C565588||epidermolysis bullosa with diaphragmatic hernia C567755|613097||tooth agenesis selective 6 C567755|613097||sthag6 C565584||epithelial squamous dysplasia keratinizing desquamative of urinary tract C565585||epiphyseal dysplasia of femoral head myopia and deafness C565587||epilepsy photogenic with spastic diplegia and mental retardation 145250||hyperpigmentation familial progressive 2 145250||fph 145250||fph2 145250|266140|C563004||hpp 145250|C564163||melanosis universalis hereditaria 145250||muh D065008||scorpion stings D065008||scorpionism D065008||scorpionisms D065008||scorpion sting D065008||sting scorpion D065008||stings scorpion C566466|610508||maturity onset diabetes of the young type 7 C566466|610508||mody7 C567393|612225||maturity onset diabetes of the young type 9 C567393|612225||mody9 C567842|612955||long qt syndrome 12 C567842|612955||lqt12 C567296|115300||hypercarotenemia and vitamin a deficiency autosomal dominant C567296|115300||carotenoids plasma level of quantitative trait locus 1 included C565591||endothelial dystrophy congenital hereditary with nail hypoplasia D001819||bluetongue D001819||blue tongue D001819||tongue blue C565592||endocardial fibroelastosis and coarctation of abdominal aorta C565594||encephalopathy with intracranial calcification growth hormone deficiency microcephaly and retinal degeneration C564263||craniosynostosis with ocular abnormalities and hallucal defects C564262||scimitar anomaly multiple cardiac malformations and craniofacial and central nervous system abnormalities C564262||anomalous pulmonary venous return multiple cardiac malformations and craniofacial and central nervous system abnormalities D055677||refeeding syndrome D055677||syndrome refeeding C564261||lelis syndrome C564261||ectodermal dysplasia hypohidrotic with acanthosis nigricans D053018||pyonephrosis D053018||hydronephrosis infected D053018||infected hydronephrosis C564267||mandibulofacial dysostosis with ptosis autosomal dominant C564264||growth failure microcephaly mental retardation cataracts large joint contractures osteoporosis cortical dysplasia and cerebellar atrophy 613162||spastic paraplegia 45 autosomal recessive 613162||spg45 C565596||encephalopathy axonal with necrotizing myopathy cardiomyopathy and cataracts C565597||encephalomalacia multilocular 270400|D019082||smith lemli opitz syndrome 270400|D019082||7 dehydrocholesterol reductase deficiencies 270400|D019082||7 dehydrocholesterol reductase deficiency 270400|D019082||acrodysgenital syndrome lethal 270400|D019082||acrodysgenital syndromes lethal 270400|D019082||deficiencies 7 dehydrocholesterol reductase 270400|D019082||deficiency 7 dehydrocholesterol reductase 270400|D019082||hyperotosis corticalis generalisata familiaris 270400|D019082||lethal acrodysgenital syndrome 270400|D019082||lethal acrodysgenital syndromes 270400|D019082||polydactyly sex reversal renal hypoplasia and unilobar lung 270400|D019082||reductase deficiencies 7 dehydrocholesterol 270400|D019082||reductase deficiency 7 dehydrocholesterol 270400|D019082||rsh slo syndrome 270400|D019082||rsh slo syndromes 270400|D019082||rsh syndrome 270400|D019082||rsh syndromes 270400|D019082||rutledge friedman harrod syndrome 270400|D019082||rutledge lethal multiple congenital anomaly syndrome 270400|D019082||slos 270400|D019082||slo syndrome 270400|D019082||slo syndromes 270400|D019082||smith lemli opitz syndrome type 1 270400|D019082||smith lemli opitz syndrome type 2 270400|D019082||smith lemli opitz syndrome type i 270400|D019082||smith lemli opitz syndrome type ii 270400|D019082||syndrome lethal acrodysgenital 270400|D019082||syndrome rsh 270400|D019082||syndrome slo 270400|D019082||syndromes rsh 270400|D019082||syndromes slo C565598||elliptocytosis atypical C535421|604563||charcot marie tooth disease type 4b2 C535421|604563||charcot marie tooth disease with focally folded myelin sheaths autosomal recessive type 4b2 C535421|604563||charcot marie tooth neuropathy type 4b2 C535421|604563||charcot marie tooth neuropathy type 4b2 charcot marie tooth disease type 4b2 with early onset glaucoma included C535421|604563||charcot marie tooth neuropathy type 4b2 with early onset glaucoma included C535421|604563||cmt4b2 D016080||arachnoid cysts D016080||arachnoid cyst intracranial D016080||arachnoid cysts intracranial D016080||arachnoid diverticula D016080||arachnoid diverticulas D016080||cyst arachnoid D016080||cyst intracranial arachnoid D016080||cyst leptomeningeal D016080||cysts arachnoid D016080||cysts intracranial arachnoid D016080||cysts leptomeningeal D016080||diverticula arachnoid D016080||diverticulas arachnoid D016080||intracranial arachnoid cyst D016080||intracranial arachnoid cysts D016080||leptomeningeal cyst D016080||leptomeningeal cysts D030361||papillomavirus infections D030361||papillomavirus infection D013801||theileriasis D013801||coast fever east D013801||corridor disease D013801||disease corridor D013801||east coast fever D013801||fever east coast D013801||theileriases D013801||theilerioses D013801||theileriosis C564271||craniofacial abnormalities cataracts congenital heart disease sacral neural tube defects and growth and developmental retardation C565567||fibromatosis gingival with distinctive facies C566898||peripapillary atrophy beta type C566898||beta ppa C566898||peripapillary chorioretinal atrophy beta type C564233||glaucoma 1 open angle e C565568||myofibromatosis juvenile C564232||glaucoma and sleep apnea C|D004194||diseases C565569||fever familial lifelong persistent D016055||urinary retention D016055||retention urinary 613150||muscular dystrophy dystroglycanopathy congenital with brain and eye anomalies type a 2 613150||mddga2 613150||walker warburg syndrome or muscle eye brain disease pomt2 related C565562||fraser like syndrome C565562||fused eyelids airway anomalies ovarian cysts and digital anomalies C566893||gangliosidosis generalized gm1 late infantile type 613151||muscular dystrophy dystroglycanopathy congenital with mental retardation type b 3 613151||mddgb3 613151||muscular dystrophy congenital pomgnt1 related C565563||ehlers danlos syndrome vi phenotype with macrocephaly D017380||hypertrophy right ventricular D017380||hypertrophies right ventricular D017380||right ventricular hypertrophies D017380||right ventricular hypertrophy D017380||ventricular hypertrophies right D017380||ventricular hypertrophy right C564237||giant platelet syndrome with thrombocytopenia 613152||muscular dystrophy dystroglycanopathy congenital without mental retardation type b 4 613152||mddgb4 613152||muscular dystrophy congenital fktn related C565564||fleck retina familial benign C566895||gangliosidosis generalized gm1 type i with cardiac involvement C566895||gm1 gangliosidosis type i with cardiac involvement 613153||muscular dystrophy dystroglycanopathy congenital with brain and eye anomalies type a 5 613153||mddga5 613153||walker warburg syndrome or muscle eye brain disease fkrp related C566896||myopathy congenital with excess of muscle spindles C564235||glaucoma with elevated episcleral venous pressure 613154||muscular dystrophy dystroglycanopathy congenital with brain and eye anomalies type a 6 613154||mddga6 613154||walker warburg syndrome or muscle eye brain disease large related 613155||muscular dystrophy dystroglycanopathy congenital with mental retardation type b 1 613155||mddgb1 613155||muscular dystrophy congenital pomt1 related 613156||muscular dystrophy dystroglycanopathy congenital with mental retardation type b 2 613156||mddgb2 613156||muscular dystrophy congenital pomt2 related 613157||muscular dystrophy dystroglycanopathy limb girdle type c 3 613157||lgmd2o 613157||mddgc3 613157||muscular dystrophy dystroglycanopathy limb girdle pomgnt1 related 613157||muscular dystrophy limb girdle type 2o C564239||geographic tongue and fissured tongue 613158||muscular dystrophy dystroglycanopathy limb girdle type c 2 613158||lgmd2n 613158||mddgc2 613158||muscular dystrophy dystroglycanopathy limb girdle pomt2 related 613158||muscular dystrophy limb girdle type 2n D004067||digestive system neoplasms D004067||cancer digestive system D004067||cancer of digestive system D004067||cancer of the digestive system D004067||cancers digestive system D004067||digestive system cancer D004067||digestive system cancers D004067||digestive system neoplasm D004067||neoplasm digestive system D004067||neoplasms digestive system 613159||nephronophthisis like nephropathy 1 613159||nphpl1 C565114|125350||failure of tooth eruption primary C565114|125350||dental noneruption C565114|125350||pfe C565114|125350||posterior openbite familial C565114|125350||primary failure of eruption nonsyndromic C565114|125350||primary retention of teeth C565114|125350||unerupted second primary molar D004066||digestive system diseases D004066||digestive system disease D004066||disease digestive system D004066||diseases digestive system D004066||system disease digestive D004066||system diseases digestive C567559|612796||inflammatory bowel disease 27 C567559|612796||ibd27 D017092|263700||porphyria erythropoietic D017092|263700||cep D017092|263700||congenital erythropoietic porphyria D017092|263700||congenital erythropoietic porphyrias D017092|263700||deficiency of uroporphyrinogen iii synthase D017092|263700||erythropoietic porphyria D017092|263700||erythropoietic porphyria congenital D017092|263700||erythropoietic porphyrias D017092|263700||erythropoietic porphyrias congenital D017092|263700||gunther disease D017092|263700||gunther apos s disease D017092|263700||gunthers disease D017092|263700||porphyria congenital erythropoietic D017092|263700||porphyria erythropoietic congenital D017092|263700||porphyrias congenital erythropoietic D017092|263700||porphyrias erythropoietic D017092|263700||uroporphyrinogen iii synthase deficiency D017092|263700||uroporphyrinogen iii synthase deficiency of D017092|263700||uros deficiency C536447|604931||cortisone reductase deficiency C536447|604931||11 beta hydroxysteroid dehydrogenase type i deficiency of C536447|604931||cortisone reductase deficiency 1 C536447|604931||cortrd1 C535708||manouvrier syndrome C535708||lung agenesis heart defect thumb anomalies C535708||pulmonary aplasia and triphalangia of the thumb C563699|609558||prostate cancer hereditary 6 C563699|609558||hpc6 C535709||manz syndrome C535709||familial hypomagnesemia hypercalciuria D054364||solitary fibrous tumors D054364||fibrous tumor solitary D054364||fibrous tumors solitary D054364||solitary fibrous tumor D054364||tumor solitary fibrous D054364||tumors solitary fibrous C566983|611252||spastic paraplegia 32 autosomal recessive C566983|611252||spg32 D054363||solitary fibrous tumor pleural D054363||benign fibrous mesothelioma D054363||benign fibrous mesotheliomas D054363||fibromas submesothelial D054363||fibroma submesothelial D054363||fibrous mesothelioma D054363||fibrous mesothelioma benign D054363||fibrous mesothelioma localized D054363||fibrous mesotheliomas D054363||fibrous mesotheliomas benign D054363||fibrous mesotheliomas localized D054363||fibrous mesothelioma solitary D054363||fibrous mesotheliomas solitary D054363||localized fibrous mesothelioma D054363||localized fibrous mesotheliomas D054363||localized mesothelioma D054363||localized mesotheliomas D054363||mesothelioma benign fibrous D054363||mesothelioma fibrous D054363||mesothelioma localized D054363||mesothelioma localized fibrous D054363||mesotheliomas benign fibrous D054363||mesotheliomas fibrous D054363||mesotheliomas localized D054363||mesotheliomas localized fibrous D054363||mesothelioma solitary fibrous D054363||mesotheliomas solitary fibrous D054363||solitary fibrous mesothelioma D054363||solitary fibrous mesotheliomas D054363||solitary fibrous tumor of the pleura D054363||submesothelial fibroma D054363||submesothelial fibromas C535700||malignant mesenchymal tumor C535700||malignant mesenchymoma C565572||estren dameshek variant of fanconi anemia C565572||fanconi anemia estren dameshek variant C564241||craniosynostosis calcification of basal ganglia and facial dysmorphism C535701||malignant teratocarcinosarcoma C535701||paranasal sinus teratocarcinosarcoma C535701||paranasal sinus teratocarcinosarcoma type C535701||sinonasal teratocarcinosarcoma C535701||sinonasal teratocarcinosarcoma type C535704||malpuech facial clefting syndrome C535704||facial clefting syndrome gypsy type C535704||malpuech syndrome D017379||hypertrophy left ventricular D017379||hypertrophies left ventricular D017379||left ventricular hypertrophies D017379||left ventricular hypertrophy D017379||ventricular hypertrophies left D017379||ventricular hypertrophy left C535703||malouf syndrome C535703||cardiomyopathy congestive with hypergonadotropic hypogonadism C535703||congestive cardiomyopathy hypergonadotropic hypogonadism syndrome C535703||congestive or dilated cardiomyopathy with hypergonadotropic hypogonadism D053039||ureterolithiasis D053039||ureterolithiases C565577|227300||familial multiple coagulation factor deficiency i C565577||f5f8d C565577||factor v and factor viii combined deficiency of C565577||factor v and factor viii combined deficiency of with normal protein c and protein c inhibitor C565577|227300||fmfd1 C565577|227300||fmfd i C565577|227300||mcfd1 C565577|227300||multiple coagulation factor deficiency i D016063||blood loss surgical D016063||hemorrhage surgical D016063||surgical blood loss D016063||surgical blood losses D016063||surgical hemorrhage D016063||surgical hemorrhages C565578||faciocardiomelic dysplasia lethal C564244||vater like defects with pulmonary hypertension laryngeal webs and growth deficiency C565579||facial dysmorphism with multiple malformations D016066||pleural effusion malignant D016066||effusion malignant pleural D016066||effusions malignant pleural D016066||malignant pleural effusion D016066||malignant pleural effusions D016066||pleural effusions malignant C565573||estren dameshek variant of fanconi pancytopenia C564247||microcephaly primary autosomal recessive 6 C563824|608957||cd8 deficiency familial D053040||nephrolithiasis D030341||nidovirales infections C535719||duker weiss siber syndrome C535718||dubowitz syndrome C535718||dwarfism eczema peculiar facies syndrome C536414|259900||primary hyperoxaluria type 1 C536414|259900||alanine glyoxylate aminotransferase deficiency C536414|259900||glycolic aciduria C536414|259900||hepatic agt deficiency C536414|259900||hp1 C536414|259900||hyperoxaluria primary type i C536414|259900||oxalosis 1 C536414|259900||oxalosis i C536414|259900||peroxisomal alanine glyoxylate aminotransferase deficiency C536414|259900||serine pyruvate aminotransferase deficiency C565580||facial abnormalities kyphoscoliosis and mental retardation D019305|117100||epilepsy rolandic D019305|117100||bcects D019305|117100||bects D019305|117100||benign childhood epilepsy with centro temporal spikes D019305|117100||benign epilepsy of childhood with centrotemporal spikes D019305|117100||benign epilepsy with centrotemporal spikes D019305|117100||benign rolandic epilepsy D019305|117100||benign rolandic epilepsy of childhood D019305|117100||centralopathic epilepsies D019305|117100||centralopathic epilepsy D019305|117100||centrotemporal epilepsies D019305|117100||centrotemporal epilepsy D019305|117100||ect D019305|117100||epilepsies centralopathic D019305|117100||epilepsies centrotemporal D019305|117100||epilepsies rolandic D019305|117100||epilepsy benign rolandic D019305|117100||epilepsy centralopathic D019305|117100||epilepsy centrotemporal D019305|117100||epilepsy rolands D019305|117100||epilepsy sylvian D019305|117100||rolandic epilepsies D019305|117100||rolandic epilepsy D019305|117100||rolandic epilepsy benign D019305|117100||rolands epilepsy D019305|117100||sylvian epilepsy D019305|117100||temporal central focal epilepsy C535711||maple syrup urine disease type 1b C567710|613195||weill marchesani like syndrome C535710||maple syrup urine disease type 1a C535713||opitz reynolds fitzgerald syndrome D030342||genetic diseases inborn D030342||defect single gene D030342||defects single gene D030342||disease hereditary D030342||disease inborn genetic D030342||diseases hereditary D030342||diseases inborn genetic D030342||genetic disease inborn D030342||hereditary disease D030342||hereditary diseases D030342||inborn genetic disease D030342||inborn genetic diseases D030342||single gene defect D030342||single gene defects C535712||maple syrup urine disease type 2 C535714||neuropathy congenital with arthrogryposis multiplex C535714||congenital non progressive peripheral neuropathy with arthrogryposis multiplex C565544||gsd iv neuromuscular form adult with isolated myopathy C567045|610947||coronary artery disease autosomal dominant 2 C567045|610947||adcad2 C566876|C566875|300055||mental retardation x linked 79 C564211||granddad syndrome C564211||growth retardation aged facies normal development decreased subcutaneous fat autosomal dominant inheritance C566877|C566875|300055||mental retardation x linked with spasticity C567316|612422||cardiomyopathy familial restrictive 3 C567316|612422||rcm3 C564210||granulomatous disease chronic autosomal dominant type D013262|608579||stevens johnson syndrome D013262|608579||drug induced stevens johnson syndrome D013262|608579||drug induced stevens johnson syndromes D013262|608579||epidermal necrolyses toxic D013262|608579||epidermal necrolysis toxic D013262|608579||hypersensitivity syndrome carbamazepine induced susceptibility to included D013262|608579||lyell apos s syndrome D013262|608579||lyell apos s syndromes D013262|608579||lyell syndrome D013262|608579||mycoplasma induced stevens johnson syndrome D013262|608579||necrolyses toxic epidermal D013262|608579||necrolysis toxic epidermal D013262|608579||nonstaphylococcal scalded skin syndrome D013262|608579||scalded skin syndrome nonstaphylococcal D013262|608579||severe cutaneous adverse reaction susceptibility to D013262|608579||stevens johnson syndrome drug induced D013262|608579||stevens johnson syndrome mycoplasma induced D013262|608579||stevens johnson syndromes drug induced D013262|608579||stevens johnson syndrome susceptibility to included D013262|608579||stevens johnson syndrome toxic epidermal necrolysis D013262|608579||stevens johnson syndrome toxic epidermal necrolysis spectrum D013262|608579||syndrome lyell apos s D013262|608579||syndrome mycoplasma induced stevens johnson D013262|608579||syndromes lyell apos s D013262|608579||toxic epidermal necrolyses D013262|608579||toxic epidermal necrolysis D013262|608579||toxic epidermal necrolysis stevens johnson syndrome D013262|608579||toxic epidermal necrolysis stevens johnson syndrome spectrum D013262|608579||toxic epidermal necrolysis susceptibility to included C565540||gsd iv nonprogressive hepatic C565541||gsd iv neuromuscular form fatal perinatal C566872||dilution pigmentary C566872||albinoidism oculocutaneous autosomal dominant C564215||glyoxalase ii deficiency C565542||gsd iv neuromuscular form congenital C566873||hereditary bundle branch system defect C566873|113900||cardiac conduction defect progressive C566873||heart block progressive familial C566873||heart block progressive familial type 1 C566873|113900||heart block progressive familial type i C566873|113900||lenegre lev disease C566873|113900||pfhb1a C566873|113900||pfhbi C566873|113900||pfhbia C566873|113900||progressive familial heart block type ia C564214||goniodysgenesis mental retardation short stature syndrome C564214||gms syndrome C565543||gsd iv neuromuscular form childhood C564218||glutathione reductase hemolytic anemia due to deficiency of in red cells 607677|C535416||charcot marie tooth disease type 2i 607677|C535416|608673||charcot marie tooth disease axonal autosomal dominant type 2l 607677|C535416||charcot marie tooth disease axonal type 2i 607677|C535416|608673||charcot marie tooth neuropathy axonal type 2l 607677|C535416||charcot marie tooth neuropathy type 2i 607677|C535416||cmt2i 607677|C535416||cmt 2i 607677|C535416|608673||cmt2l C564217||glutathione peroxidase deficiency hemolytic anemia possibly due to C565548||bernard soulier syndrome type a C566879||xeroderma pigmentosum type g cockayne syndrome C566879||xpg cs C565549||bernard soulier syndrome type b D005383||finger injuries D005383||finger injury D005383||injuries finger D005383||injury finger 602481|C537246||migraine familial hemiplegic 2 602481||fhm2 602481||mhp2 migraine familial basilar included 602482|C535679||axenfeld rieger syndrome type 3 602482|C535679||anterior chamber cleavage syndrome 602482|107250|C537775||anterior segment mesenchymal dysgenesis 602482||axenfeld rieger anomaly included 602482|C535679||axenfeld rieger anomaly with or without cardiac defects and or sensorineural hearing loss 602482||rieg3 602482||rieger anomaly included 602482||rieger syndrome type 3 axenfeld anomaly included D017359||hellp syndrome D017359||hemolysis elevated liver enzymes lowered platelets D017359||syndrome hellp C566880||tachycardia hypertension microphthalmia and hyperglycinuria C565550||bernard soulier syndrome type c C565715|610155||diabetes mellitus insulin dependent 19 C565715|610155||iddm19 C565555||gaucher disease type iiib C564292|608097||heterotopia periventricular autosomal recessive C564292|608097||arphm C564292|608097||periventricular heterotopia with microcephaly autosomal recessive C564292|608097||periventricular nodular heterotopia 2 C564292|608097||pvnh2 C565556||gaucher disease norrbottnian type C566888||humeroradial synostosis with craniofacial anomalies C564221||glucocorticoid receptor deficiency C564221||body composition beneficial C564221||cortisol resistance from glucocorticoid receptor defect C564221||gccr deficiency C564221||gcr deficiency C564221||glucocorticoid resistance C564221||pseudohermaphroditism female with hypokalemia due to glucocorticoid resistance C565558||fructose and galactose intolerance C566889||glycogen storage disease iiia C566889||gsd iiia C566878|300673||encephalopathy neonatal severe due to mecp2 mutations C566878|300673||mecp2 related severe neonatal encephalopathy D013915|273800||thrombasthenia D013915|273800||bdplt2 D013915|273800||bleeding disorder platelet type 2 D013915|273800||deficiency of gp 2b 3a complex D013915|273800||glanzmann thrombasthenia D013915|273800||glanzmann thrombasthenia type a D013915|273800||glycoprotein complex iib iiia deficiency of D013915|273800||gp iib iiia complex deficiency of D013915|273800||gt D013915|273800||platelet fibrinogen receptor deficiency of D013915|273800||platelet glycoprotein 2b 3a deficiency D013915|273800||platelet glycoprotein iib iiia deficiency D013915|273800||thrombasthenia glanzmann D013915|273800||thrombasthenia of glanzmann and naegeli D013915|273800||thrombasthenias C565239|606282||deafness autosomal dominant 24 C565239|606282||dfna24 C566884||microphthalmia with hyperopia retinal degeneration macrophakia and dental anomalies C565554||gaucher disease type iiia C566885||lactic acidosis fatal infantile C564229||globulin anomaly involving beta 2a globulin D004057||hyperostosis diffuse idiopathic skeletal D004057||ankylosing hyperostoses vertebral D004057||ankylosing hyperostosis vertebral D004057||ankylosing vertebral hyperostosis with tylosis D004057||diffuse idiopathic skeletal hyperostosis D004057||disease forestier D004057||disease forestier rotes D004057||disease forestier apos s D004057||forestier disease D004057||forestier rotes disease D004057||forestier apos s disease D004057||forestiers disease D004057||hyperostoses vertebral ankylosing D004057||hyperostosis vertebral ankylosing D004057||vertebral ankylosing hyperostoses D004057||vertebral ankylosing hyperostosis 246650|C535904||lipase deficiency combined 246650|C535904||lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency 246650|C535904||lpl and hl deficiency 246650|C535904||lpl and htgl deficiency D005393||fish diseases D005393||disease fish D005393||diseases fish D005393||fish disease C536133|249000||meckel syndrome type 1 C536133|249000||dysencephalia splachnocystica C536133|249000||dysencephalia splanchnocystica C536133|249000||gruber syndrome C536133|249000||meckel gruber syndrome C536133|249000||meckel gruber syndrome type 1 C536133|249000||meckel syndrome C536133|249000||meckel syndrome type1 C536133|249000||mes C536133|249000||mks C536133|249000||mks1 C567780|114200||camptodactyly 1 C567780|114200||campd1 C567780|114200||camptodactyly and knuckle pads C567780|114200||camptodactyly and knuckle pads streblodactyly included D004065||digestive system abnormalities D004065||abnormalities digestive system D004065||abnormality digestive system D004065||digestive system abnormality D054391||lymphoma extranodal nk t cell D054391||extranodal nk t cell lymphoma D054391||extranodal nk t cell lymphoma nasal D054391||extranodal nk t cell lymphoma nasal and nasal type D054391||extranodal nk t cell lymphoma nasal type D054391||extranodal nk t cell lymphomas D054391||lymphomas extranodal nk t cell D054391||nk t cell lymphoma extranodal D054391||nk t cell lymphomas extranodal 208100|C536614||arthrogryposis multiplex congenita neurogenic type 208100|C536614||amcn 208100|C536614||amc neurogenic type 208100|C536614||neurogenic type of amc C576203||alcohol fetopathy D005391||firesetting behavior D005391||arson D005391||arsons D005391||behavior firesetting D005391||behaviors firesetting D005391||firesetting behaviors D005391||pyromania D005391||pyromanias C566890||glycogen storage disease iiib C566890||gsd iiib C566891||glycogen storage disease iiic C566891||gsd iiic C566892||glycogen storage disease iiid C566892||gsd iiid C564230||glioma of brain familial C565522||hemolytic anemia with thermal sensitivity of red cells C541598||chromosome 11p deletion syndrome C541598||11p deletion syndrome C563683|610329||aicardi goutieres syndrome 3 C563683|610329||ags3 C565521||hemolytic uremic syndrome typical D050805||wandering spleen D050805||displaced spleen D050805||displaced spleens D050805||drifting spleen D050805||drifting spleens D050805||floating spleen D050805||floating spleens D050805||ptoses splenic D050805||ptosis splenic D050805||spleen displaced D050805||spleen drifting D050805||spleen floating D050805||spleens displaced D050805||spleens drifting D050805||spleens floating D050805||spleens wandering D050805||spleen wandering D050805||splenic ptoses D050805||splenic ptosis D050805||splenoptoses D050805||splenoptosis D050805||wandering spleens D005358||fibrous dysplasia monostotic D005358||dysplasia monostotic fibrous D005358||dysplasias monostotic fibrous D005358||fibrous dysplasias monostotic D005358||monostotic fibrous dysplasia D005358||monostotic fibrous dysplasias D005357||fibrous dysplasia of bone D005357||bone fibrous dysplasia D005357||bone fibrous dysplasias D005357||osteitis fibrosa disseminata D005354||fibrosarcoma D005354||fibrosarcomas C566858||copper overload cirrhosis D004022||dictyocaulus infections D004022||dictyocauliases D004022||dictyocauliasis D004022||dictyocaulus infection D004022||infection dictyocaulus D004022||infections dictyocaulus C565528||growth retardation small and puffy hands and feet and eczema D005356||fibromyalgia D005356||diffuse myofascial pain syndrome D005356||fibromyalgia fibromyositis syndrome D005356||fibromyalgia fibromyositis syndromes D005356||fibromyalgia primary D005356||fibromyalgias D005356||fibromyalgia secondary D005356||fibromyalgias primary D005356||fibromyalgias secondary D005356||fibromyositis fibromyalgia syndrome D005356||fibromyositis fibromyalgia syndromes D005356||fibrositides D005356||fibrositis D005356||muscular rheumatism D005356||myofascial pain syndrome diffuse D005356||primary fibromyalgia D005356||primary fibromyalgias D005356||rheumatism muscular D005356||secondary fibromyalgia D005356||secondary fibromyalgias D005356||syndrome fibromyalgia fibromyositis D005356||syndrome fibromyositis fibromyalgia D005356||syndromes fibromyalgia fibromyositis D005356||syndromes fibromyositis fibromyalgia C565529||growth factors combined defect of C565529||insulin insulin like growth factor i and epidermal growth factor deficiency C565529||werner like syndrome due to combined growth factor deficiency D005355||fibrosis D005355|D008103||cirrhosis D005355||fibroses C563462|600649||carnitine palmitoyltransferase ii deficiency infantile C563462|600649||carnitine palmitoyltransferase ii deficiency hepatocardiomuscular C563462|600649||carnitine palmitoyltransferase ii deficiency with hypoketotic hypoglycemia C563462|600649||cpt2 deficiency infantile C563462|600649||cpt ii deficiency hepatic D006685||hoarseness D006685||hoarsenesses D006685||hoarseness neurogenic D006685||hoarseness of voice D006685||hoarseness voice D006685||neurogenic hoarseness D006685||neurogenic hoarsenesses D006685||voice hoarseness D004030||dientamoebiasis D004030||dientamoebiases C535819|177170||pseudoachondroplasia C535819|177170||psach C535819|177170||pseudoachondroplastic dysplasia C535819|177170||pseudoachondroplastic spondyloepiphyseal dysplasia C535819|177170||pseudoachondroplastic spondyloepiphyseal dysplasia syndrome C535819|177170||spondyloepiphyseal dysplasia pseudoachondroplastic D006691||classical swine fever D006691||cholera hog D006691||hog cholera D006691||swine fever D006691||swine fever classical C566864||heterotaxy visceroatrial autosomal recessive C564201||hemangiomas of small intestine C565534||granulomatous disease with defect in neutrophil chemotaxis C566865||ataxia telangiectasia variant C564200||heme oxygenase 1 deficiency C565535||granulocytopenia with immunoglobulin abnormality C565196|610698||macular degeneration age related 4 C565196|610698||armd4 C565536||gonadal dysgenesis xy type with associated anomalies D050815||fractures compression D050815||compression fracture D050815||compression fractures D050815||fracture compression C565530||grouped pigmentation of the macula C565530||grouped pigmentation of retinal pigment epithelium C566861||cataract microcephaly arthrogryposis kyphosis syndrome C566861||camak syndrome C566862||polyasplenia C566862||asplenia with cardiovascular abnormalities C564202||progressive familial heart block type ii C564202||pfhb2 C564202||pfhbii C564209||graying of hair precocious C564209||white hair premature D005368||filariasis D005368||elaeophoriases D005368||elaeophoriasis D005368||filariases D005368||filarioidea infection D005368||filarioidea infections D005368||infection filarioidea D005368||infections filarioidea C564207||prolonged bleeding time brachydactyly and mental retardation C564206||achromatopsia 4 C565538||glycoprotein storage disease C565539||gsd iv classic hepatic C564699|606545||ichthyosis lamellar 5 C564699|606545||arci3 C564699|606545|C538603|242100|D017490|242300||collodion baby self healing C564699|606545||ichthyosis congenital autosomal recessive 3 C564699|606545||ichthyosis lamellar 5 formerly C564699|606545||lamellar ichthyosis type 5 C564699|606545||li5 formerly 230400||galactosemia galactose 1 phosphate uridylyltransferase deficiency 230400|D005693|230200||galt deficiency 230400|D005693|230200||galactosemia classic galactosemia duarte variant C567507|611878||cardiomyopathy dilated 1y C567507|611878||cmd1y C567507|611878||left ventricular noncompaction 9 included C567507|611878||lvnc9 included C536778|212140||systemic carnitine deficiency C536778|212140||carnitine deficiency primary C536778|212140||carnitine deficiency systemic due to defect in renal reabsorption of carnitine C536778|212140||carnitine deficiency systemic primary C536778|212140||carnitine transporter deficiency C536778|212140||carnitine transporter plasma membrane deficiency of C536778|212140||carnitine uptake defect C536778|212140||carnitine uptake deficiency C536778|212140||cdsp C536778|212140||cud C536778|212140||primary carnitine deficiency C536778|212140||renal carnitine transport defect C536778|212140||scd D013132|248800||spinocerebellar degenerations D013132|248800||ataxia hereditary D013132|248800||ataxias hereditary D013132|248800||cerebellar ataxia early onset D013132|248800||cerebellar ataxia late onset D013132|248800||cerebellar ataxia marie D013132|248800||cerebellar ataxia marie apos s D013132|248800||cerebellar degeneration primary D013132|248800||cerebellar degenerations primary D013132|248800||corticostriatal spinal degeneration D013132|248800||corticostriatal spinal degenerations D013132|248800||degeneration corticostriatal spinal D013132|248800||degeneration familial spinocerebellar D013132|248800||degeneration hereditary spinocerebellar D013132|248800||degeneration inherited spinocerebellar D013132|248800||degeneration primary cerebellar D013132|248800||degenerations corticostriatal spinal D013132|248800||degenerations familial spinocerebellar D013132|248800||degenerations hereditary spinocerebellar D013132|248800||degenerations inherited spinocerebellar D013132|248800||degeneration spinocerebellar D013132|248800||degeneration spino cerebellar D013132|248800||degenerations primary cerebellar D013132|248800||degenerations spinocerebellar D013132|248800||degenerations spino cerebellar D013132|248800||early onset cerebellar ataxia D013132|248800||familial spinocerebellar degeneration D013132|248800||familial spinocerebellar degenerations D013132|248800||garland moorhouse syndrome D013132|248800||hereditary ataxia D013132|248800||hereditary ataxias D013132|248800||hereditary oligophrenic cerebello lental degeneration D013132|248800||hereditary spinocerebellar degeneration D013132|248800||hereditary spinocerebellar degenerations D013132|248800||hypogonadism marinesco sjogren syndrome hypergonadotrophic D013132|248800||inherited spinocerebellar degeneration D013132|248800||inherited spinocerebellar degenerations D013132|248800||late onset cerebellar ataxia D013132|248800||marie cerebellar ataxia D013132|248800||marie apos s cerebellar ataxia D013132|248800||marinesco garland syndrome D013132|248800||marinesco sjogren garland syndrome D013132|248800||marinesco sjogren syndrome D013132|248800||marinesco sj 246 gren syndrome D013132|248800||marinesco sjogren syndrome hypergonadotrophic hypogonadism D013132|248800||marinesco sjogren syndrome myopathy D013132|248800||mss D013132|248800||primary cerebellar degeneration D013132|248800||primary cerebellar degenerations D013132|248800||spinocerebellar degeneration D013132|248800||spino cerebellar degeneration D013132|248800||spinocerebellar degeneration familial D013132|248800||spinocerebellar degeneration hereditary D013132|248800||spinocerebellar degeneration inherited D013132|248800||spino cerebellar degenerations D013132|248800||spinocerebellar degenerations familial D013132|248800||spinocerebellar degenerations hereditary D013132|248800||spinocerebellar degenerations inherited D013132|248800||spinocerebellar disease D013132|248800||spinocerebellar diseases D013132|248800||syndrome garland moorhouse D013132|248800||syndrome hypergonadotrophic hypogonadism marinesco sjogren D013132|248800||syndrome marinesco garland D013132|248800||syndrome marinesco sjogren D013132|248800||syndrome marinesco sj 246 gren D013132|248800||syndrome marinesco sjogren garland D013132|248800||syndrome myopathy marinesco sjogren C535695|154275||malignant hyperthermia susceptibility type 2 C535695|154275||malignant hyperpyrexia susceptibility type 2 C535695|154275||malignant hyperthermia susceptibility to 2 C535695|154275||mhs2 D018677||tooth injuries D018677||injuries teeth D018677||injuries tooth D018677||injury teeth D018677||injury tooth D018677||teeth injuries D018677||teeth injury D018677||tooth injury C565500||hyperlexia C565500||compulsive reading C565500||precocious reading C566831||paragangliomas with sensorineural hearing loss C565501||breastfeeding jaundice C566832||papillomatosis familial cutaneous C562903|243060||male infertility with large headed multiflagellar polyploid spermatozoa C562903|243060||infertility associated with multi tailed spermatozoa and excessive dna C562903|243060||spermatogenic failure 5 C562903|243060||spgf5 C565502||hydroxylysinuria C566834||panic disorder with bladder conditions C562924|179850||dowling degos disease C562924|179850||dark dot disease C562924|179850||ddd C562924|179850||ddd1 C562924|179850||dowling degos disease 1 C562924|179850||dowling degos kitamura disease C562924|179850||kitamura reticulate acropigmentation C562924|179850||reticular pigment anomaly of flexures C562924|179850||reticulate acropigmentation of kitamura C565509||humeroradial multiple synostosis syndrome D005335||fever of unknown origin D005335||unknown origin fever D005335||unknown origin fevers 606408|C536193||ehlers danlos syndrome caused by tenascin x deficiency 606408|C536193||eds due to tnx deficiency 606408|C536193||ehlers danlos like syndrome due to tenascin x deficiency 606408|C536193||tnx deficiency 167000|D010051||ovarian neoplasms 167000|D010051||cancer of ovary 167000|D010051||cancer of the ovary 167000|D010051||cancer ovarian 167000|D010051||cancer ovary 167000|D010051||cancers ovarian 167000|D010051||cancers ovary 167000|D010051||neoplasm ovarian 167000|D010051||neoplasm ovary 167000|D010051||neoplasms ovarian 167000|D010051||neoplasms ovary 167000|D010051||ovarian cancer 167000|D010051||ovarian cancer epithelial included 167000|D010051||ovarian cancers 167000|D010051||ovarian cancer susceptibility to 1 167000|D010051||ovarian neoplasm 167000|D010051||ovary cancer 167000|D010051||ovary cancers 167000|D010051||ovary neoplasm 167000|D010051||ovary neoplasms 167000|D010051||ovcas1 C566835||panic disorder with joint laxity D016584|167870||panic disorder D016584|167870||attack panic D016584|167870||attacks panic D016584|167870||disorder panic D016584|167870||disorders panic D016584|167870||pand1 D016584|167870||pand2 D016584|167870||pand3 D016584|167870||panic attack D016584|167870||panic attacks D016584|167870||panic disorder 1 D016584|167870||panic disorder 2 D016584|167870||panic disorder 3 D016584|167870||panic disorder panic disorder with bladder conditions included D016584|167870||panic disorders D016584|167870||panic disorder susceptibility locus chromosome 13q related D016584|167870||panic disorder susceptibility locus chromosome 4q related D016584|167870||panic disorder susceptibility locus chromosome 9q related D016584|167870||panic disorder with joint laxity included C565505||muscular dystrophy congenital plus mental retardation C565485|240600||glycogen storage disease 0 liver C565485|240600||gsd 0a C565485|240600||gsd0a C565485|240600||hypoglycemia with deficiency of glycogen synthetase in the liver C565485|240600||liver glycogen storage disease 0 C565485|240600||liver glycogen synthase deficiency D005331||fetomaternal transfusion D005331||fetomaternal hemorrhage D005331||fetomaternal hemorrhages D005331||fetomaternal transfusions D005331||hemorrhage fetomaternal D005331||hemorrhages fetomaternal D005331||transfusion fetomaternal D005331||transfusions fetomaternal C566836||pancytopenia and occlusive vascular disease 277730|D020915||korsakoff syndrome 277730|D020915|C538669||alcohol induced encephalopathy 277730|D020915||korsakoff psychoses 277730|D020915||korsakoff psychosis 277730|D020915||psychoses korsakoff 277730|D020915||psychosis korsakoff 277730|D020915||syndrome korsakoff 277730|D020915||syndromes wernicke korsakoff 277730|D020915||syndrome wernicke korsakoff 277730|D020915|C538669||transketolase defect 277730|D020915||wernicke korsakoff syndrome 277730|D020915||wernicke korsakoff syndromes C565506||muscular dystrophy congenital associated with calf hypertrophy microcephaly and severe mental retardation D005334||fever D005334||fevers D005334||hyperthermia D005334||hyperthermias D005334||pyrexia D005334||pyrexias C566837||pancreatitis calcific C565507||hydranencephaly with renal aplasia dysplasia C567371|612279||generalized epilepsy with febrile seizures plus type 6 C567371|612279||gefs 6 C567371|612279||gefsp6 C567371|612279||gefs type 6 D053099||azotemia D019973||alcohol related disorders D019973||alcohol related disorder D019973||disorder alcohol related D019973||disorders alcohol related C565512||mthfr deficiency thermolabile type 274150|D011697||purpura thrombotic thrombocytopenic 274150|D011697||congenital thrombotic thrombocytopenic purpura 274150|D011697||disease moschcowitz 274150|D011697||disease moschkowitz 274150|D011697||familial thrombotic microangiopathy 274150|D011697||familial thrombotic thrombocytopenia purpura 274150|D011697||familial thrombotic thrombocytopenic purpura 274150|D011697|D000743||microangiopathic hemolytic anemia 274150|D011697||microangiopathic hemolytic anemia congenital 274150|D011697||microangiopathy familial thrombotic 274150|D011697||moschcowitz disease 274150|D011697||moschkowitz disease 274150|D011697||purpura thrombotic thrombopenic 274150|D011697||schulman upshaw syndrome 274150|D011697||syndrome schulman upshaw 274150|D011697||syndrome upshaw schulman 274150|D011697||thrombocytopenic purpura thrombotic 274150|D011697||thrombopenic purpura thrombotic 274150|D011697||thrombotic microangiopathy familial 274150|D011697||thrombotic thrombocytopenic purpura 274150|D011697||thrombotic thrombocytopenic purpura congenital 274150|D011697||thrombotic thrombocytopenic purpura familial 274150|D011697||thrombotic thrombopenic purpura 274150|D011697||ttp 274150|D011697||upshaw factor deficiency of 274150|D011697||upshaw schulman syndrome 274150|D011697||uss C565513||homocystinuria pyridoxine responsive C566844||thanatophoric dysplasia type i C566844||lethal short limbed platyspondylic dwarfism san diego type C566844||platyspondylic lethal skeletal dysplasia san diego type C565514||holoprosencephaly 1 C563321|601412||deafness autosomal dominant 7 C563321|601412||dfna7 304790|C562780||immunodysregulation polyendocrinopathy and enteropathy x linked 304790|C562780||autoimmunity immunodeficiency syndrome x linked 304790|C562780||diabetes mellitus congenital insulin dependent with fatal secretory diarrhea 304790|C562780||diarrhea polyendocrinopathy fatal infection syndrome x linked 304790|C562780||dmsd 304790|C562780||enteropathy autoimmune with hemolytic anemia and polyendocrinopathy 304790|C562780||iddm secretory diarrhea syndrome 304790|C562780||immunodeficiency polyendocrinopathy and enteropathy x linked formerly islets of langerhans absence of included 304790|C562780||ipex 304790|C562780||polyendocrinopathy immune dysfunction and diarrhea x linked 304790|C562780||xlaad 304790|C562780||x linked autoimmunity allergic dysregulation syndrome 304790|C562780||xpid 107250|C537775||anterior segment ocular dysgenesis 107250|C537775||asmd 107250|C537775||asod D020966||muscular disorders atrophic D020966||atrophic muscular disorder D020966||atrophic muscular disorders D020966||atrophies disuse D020966||atrophies spinobulbar D020966||atrophies spinobulbar muscular D020966||atrophies spinopontine D020966||atrophy disuse D020966||atrophy muscular spinobulbar D020966||atrophy spinobulbar D020966||atrophy spinobulbar muscular D020966||atrophy spinopontine D020966||disorder atrophic muscular D020966||disorders atrophic muscular D020966||disuse atrophies D020966||disuse atrophy D020966||muscular atrophies spinobulbar D020966||muscular atrophy spinobulbar D020966||muscular disorder atrophic D020966|C537017|313200||spinal and bulbar muscular atrophy D020966||spinobulbar atrophies D020966||spinobulbar atrophy D020966||spinobulbar muscular atrophies D020966||spinobulbar muscular atrophy D020966||spinopontine atrophies D020966|D017827|109150||spinopontine atrophy C537464|309800||microphthalmia syndromic 1 C537464|309800||lenz dysmorphogenic syndrome C537464|309800||lenz dysplasia C537464|309800||lenz microphthalmia syndrome C537464|309800||lenz syndrome C537464|309800||maa formerly C537464|309800||mcops1 C537464|309800||microphthalmia or anophthalmos with associated anomalies C537464|309800||microphthalmia or anophthalmos with associated anomalies formerly D006679||hiv seropositivity D006679||aids seroconversion D006679||aids seroconversions D006679||aids seropositivities D006679||aids seropositivity D006679||antibody positivities hiv D006679||antibody positivity hiv D006679||anti hiv positivities D006679||anti hiv positivity D006679||hiv antibody positivities D006679||hiv antibody positivity D006679||hiv seroconversion D006679||hiv seroconversions D006679||hiv seropositivities D006679||htlv iii seroconversion D006679||htlv iii seroconversions D006679||htlv iii seropositivities D006679||htlv iii seropositivity D006679||positivities anti hiv D006679||positivities hiv antibody D006679||positivity anti hiv D006679||positivity hiv antibody D006679||seroconversion aids D006679||seroconversion hiv D006679||seroconversion htlv iii D006679||seroconversions aids D006679||seroconversions hiv D006679||seroconversions htlv iii D006679||seropositivities aids D006679||seropositivities hiv D006679||seropositivities htlv iii D006679||seropositivity aids D006679||seropositivity hiv D006679||seropositivity htlv iii D020964||embryo loss D020964||blastocyst disintegration D020964||death embryo D020964||disintegration blastocyst D020964||disintegration of blastocyst D020964||disintegration of embryo D020964||embryo death D020964||embryo deaths D020964||embryo disintegration D020964||embryo resorption D020964||resorption embryo D006677||histrionic personality disorder D006677||disorder histrionic personality D006677||disorders histrionic personality D006677||histrionic personality disorders D006677||hysterical personalities D006677||hysterical personality D006677||personalities hysterical D006677||personality disorder histrionic D006677||personality disorders histrionic D006677||personality hysterical D005348||fibrocystic breast disease D005348||adenoses microglandular D005348||adenosis microglandular D005348||adenosis of breast D005348||breast adenosis D005348||breast cystic disease D005348||breast cystic diseases D005348||breast disease cystic D005348||breast disease fibrocystic D005348||breast dysplasia D005348||breast fibrocystic change D005348||breast fibrocystic changes D005348||breast fibrocystic disease D005348||chronic cystic mastitis D005348||cystic breast disease D005348||cystic disease of breast D005348||cystic mastitis chronic D005348||disease cystic breast D005348||disease fibrocystic breast D005348||dysplasia breast D005348||dysplasia mammary D005348||fibrocystic changes of breast D005348||fibrocystic disease of breast D005348||fibrocystic mastopathy D005348||mammary dysplasia D005348||mastopathy fibrocystic D005348||microglandular adenoses D005348||microglandular adenosis D004011||dicrocoeliasis D004011||dicrocoeliases C565517||hirschsprung disease with ulnar polydactyly polysyndactyly of big toes and ventricular septal defect 612782|C557826||immune dysfunction with t cell inactivation due to calcium entry defect 1 612782|C557826||imd9 612782|C557826||immunodeficiency 9 C565518||hirschsprung disease with polydactyly renal agenesis and deafness D005350||fibroma D005350||fibromas D005350||fibromatoses D005350||fibromatosis D005350||fibromyxoma D005350||fibromyxomas D005350||myxofibroma D005350||myxofibromas C564423|305800||membranoproliferative glomerulonephritis x linked C564423|305800||mesangiocapillary glomerulonephritis x linked D005352||fibromuscular dysplasia D005352||dysplasia fibromuscular D005352||dysplasias fibromuscular D005352||fibromuscular dysplasias D005351||fibromatosis gingival D005351||fibromatoses gingival D005351||fibromatosis gingivae D005351||gingival fibromatoses D005351||gingival fibromatosis D020969||disease attributes D020969||attribute disease D020969||attributes disease D020969||disease attribute D020967||myotonic disorders D020967||congenita paramyotonia D020967||disease eulenburg D020967||disease eulenburg apos s D020967||disorder myotonic D020967||disorders myotonic D020967||eulenburg disease D020967||eulenburg apos s disease D020967||eulenburgs disease D020967||fluctuans myotonia D020967||myopathies myotonic D020967||myopathies proximal myotonic D020967||myopathy myotonic D020967||myopathy proximal myotonic D020967|C538353|608390||myotonia fluctuans D020967||myotonic disorder D020967||myotonic myopathies D020967||myotonic myopathies proximal D020967||myotonic myopathy D020967|602668|C538009||myotonic myopathy proximal D020967||paramyotonia congenita D020967||paramyotonia congenitas D020967||promm proximal myotonic myopathy D020967||promms proximal myotonic myopathy D020967||proximal myotonic myopathies D020967|602668|C538009||proximal myotonic myopathy 609981||natural killer cell and glucocorticoid deficiency with dna repair defect 609981|C566492||natural killer cell deficiency familial isolated 609981||nkcd 609981||nkgcd C566452|610048||corneal dystrophy congenital stromal C566452|610048||congenital hereditary stromal dystrophy of the cornea C566452|610048||congenital stromal corneal dystrophy C566452|610048||congenital stromal dystrophy of the cornea C566452|610048||cscd C566452|610048||decorin associated congenital stromal corneal dystrophy C566452|610048||dystrophia corneae parenchymatosa congenita D018658||ventricular septal rupture D018658||septal ruptures ventricular D018658||septal rupture ventricular D018658||ventricular septal perforation D018658||ventricular septal ruptures C563785|609153||pseudohyperkalemia familial 2 due to red cell leak C563785|609153||pseudohyperkalemia chiswick C563785|609153||pseudohyperkalemia falkirk C563785|609153||pseudohyperkalemia lille C563785|609153||pshk2 C566810||wegener like granulomatosis C566811||pelvis shoulder dysplasia C566811||kosenow syndrome C566811||scapuloiliac dysostosis 144200|D053546||keratoderma palmoplantar epidermolytic 144200|D053546||epidermolytic hyperkeratoses localized 144200|D053546||epidermolytic hyperkeratosis localized 144200|D053546||epidermolytic palmoplantar keratoderma 144200|D053546||epidermolytic palmoplantar keratodermas 144200|D053546||epidermolytic palmoplantar keratoderma vorner type 144200|D053546||epidermolytic thost unna disease 144200|D053546||epidermolytic unna thost disease 144200|D053546||eppk 144200|D053546||eppk epidermolytic palmoplantar keratoderma 144200|D053546||eppks epidermolytic palmoplantar keratoderma 144200|D053546||greither keratosis 144200|D053546||hyperkeratoses localized epidermolytic 144200|D053546||hyperkeratosis localized epidermolytic 144200|D053546||keratoderma epidermolytic palmoplantar 144200|D053546||keratodermas epidermolytic palmoplantar 144200|D053546||keratosis of greither 144200|D053546||keratosis of greither palmoplantar keratoderma epidermolytic with knuckle pads included 144200|D053546|D015776||keratosis palmaris et plantaris familiaris 144200|D053546||localized epidermolytic hyperkeratoses 144200|D053546||localized epidermolytic hyperkeratosis 144200|D053546||palmoplantar keratoderma epidermolytic 144200|D053546||palmoplantar keratodermas epidermolytic 144200|D053546|C567914||palmoplantar keratoderma vorner type 144200|D053546||thost unna disease epidermolytic 144200|D053546|C563422|600962|D015776||tylosis 144200|D053546||unna thost disease epidermolytic D019960||elimination disorders D019960||disorder elimination D019960||disorders elimination D019960||elimination disorder C536943|186570||nog related symphalangism spectrum disorder C536943|186570|184460||ankylosis of stapes hyperopia broad thumbs broad first toes and syndactyly C536943|186570|611377||brachydactyly type b2 C536943|186570|186500||deafness symphalangism syndrome of herrmann C536943|186570|186500||facioaudiosymphalangism syndrome C536943|186570|186500||multiple synostoses syndrome 1 C536943|186570|184460||stapes ankylosis syndrome without symphalangism C536943|186570|184460||stapes ankylosis with broad thumb and toes C536943|186570|186500||symphalangism brachydactyly syndrome C536943|186570|186500||synostoses multiple with brachydactyly C536943|186570||synostosis of talus and calcaneus with short stature included C536943|186570||tarsal carpal coalition syndrome C536943|186570||tcc C536943|186570|184460||teunissen cremers syndrome C566812||pelvic lipomatosis with crossed renal ectopia D005317||fetal growth retardation D005317||growth retardation fetal D005317||growth retardation intrauterine D005317||intrauterine growth retardation D005317||iugr D005317||retardation fetal growth D005317||retardation intrauterine growth D007979||levocardia D007979||isolated levocardia D007979||levocardia isolated D007979||situs inversus with levocardia C566817||paroxysmal tonic upgaze benign childhood with ataxia D020955||striatonigral degeneration D020955||atrophies striatonigral D020955||atrophy striatonigral D020955||degeneration striatonigral D020955||striatonigral atrophies D020955||striatonigral atrophy D020955||striatonigral degenerations D006646||histiocytosis langerhans cell D006646||aleukemic reticuloendothelioses systemic D006646||aleukemic reticuloendotheliosis systemic D006646||cell granulomatoses langerhans D006646||cell granulomatosis langerhans D006646||cell histiocytoses langerhans D006646||cell histiocytosis langerhans D006646||disease hand schueller christian D006646||disease hand sch 252 ller christian D006646||disease letterer siwe D006646||disease schueller christian D006646||generalized histiocytoses D006646||generalized histiocytosis D006646||granulomatoses langerhans cell D006646||granulomatosis langerhans cell D006646||hand schueller christian disease D006646||hand schueller christian syndrome D006646||hand sch 252 ller christian disease D006646||hand sch 252 ller christian syndrome D006646||hashimoto pritzger disease D006646||histiocytoses generalized D006646||histiocytoses langerhans cell D006646||histiocytoses type 2 D006646||histiocytosis generalized D006646||histiocytosis type 2 D006646||histiocytosis x D006646||histiocytosis x pulmonary D006646||langerhans cell granulomatoses D006646||langerhans cell granulomatosis D006646||langerhans cell granulomatosis pulmonary D006646||langerhans cell histiocytoses D006646||langerhans cell histiocytosis D006646||letterer siwe disease D006646||non lipid reticuloendothelioses D006646||non lipid reticuloendotheliosis D006646||pulmonary histiocytosis x D006646||pulmonary langerhans cell granulomatosis D006646||reticuloendothelioses non lipid D006646||reticuloendothelioses systemic aleukemic D006646||reticuloendotheliosis non lipid D006646||reticuloendotheliosis systemic aleukemic D006646||schueller christian disease D006646||syndrome hand schueller christian D006646||syndrome hand sch 252 ller christian D006646||systemic aleukemic reticuloendothelioses D006646||systemic aleukemic reticuloendotheliosis D006646||type 2 histiocytoses D006646||type 2 histiocytosis D005313||fetal death D005313||death fetal D005313||fetal deaths D005313||fetal mummification D005313||fetal mummifications D005313||mummification fetal D005313||mummifications fetal D005316||fetal distress D005316||fetal status nonreassuring D005316||nonreassuring fetal status D020953||neuroaspergillosis D020953||aspergillosis nervous system invasive D020953||nervous system invasive aspergillosis D020953||neuroaspergilloses D005315||fetal diseases D005315||disease fetal D005315||diseases fetal D005315||embryopathies D005315||embryopathy D005315||fetal disease C538320|235800||histidinemia C538320|235800||deficiency in histidase C538320|235800||hal deficiency C538320|235800||his deficiency C538320|235800||histidase deficiency C538320|235800||histidine ammonia lyase deficiency C538320|235800||hyperhistidinemia C566813|D020371|169500||leukodystrophy demyelinating adult onset autosomal dominant C566813||multiple sclerosis like disorder C566813||pelizaeus merzbacher disease autosomal dominant or late onset type D007973||leukorrhea D007973||leukorrheas C566814||pechet factor deficiency C566814||dynia factor deficiency C565377|251600||microphthalmia isolated 1 C565377|251600|C566446|610093||anophthalmia clinical isolated C565377|251600||mcop C565377|251600||mcop1 C565377|251600||microphthalmos autosomal recessive D007971||leukoplakia D007971||lesion leukoplakic D007971||lesions leukoplakic D007971||leukokeratoses D007971||leukokeratosis D007971||leukoplakias D007971||leukoplakic lesion D007971||leukoplakic lesions D005311||fetal hypoxia D005311||anoxia fetal D005311||fetal anoxia D005311||hypoxia fetal C566816||patella familial recurrent dislocation of D007972||leukoplakia oral D007972||keratosis oral D007972||leukokeratoses oral D007972||leukokeratosis oral D007972||leukoplakias oral D007972||oral leukokeratoses D007972||oral leukokeratosis D007972||oral leukoplakia D007972||oral leukoplakias D019959||feeding and eating disorders of childhood D019959||childhood eating and feeding disorders D019959||disorder rumination D019959||rumination disorder D019959||rumination disorders D019958||attention deficit and disruptive behavior disorders D019958||behavior disorder disruptive D019958||defiant disorder oppositional D019958||disruptive behavior disorder D019958||oppositional defiant disorder D019955||conduct disorder D019955||conduct disorders D019954||neurobehavioral manifestations D019954||cognitive manifestation D019954||cognitive manifestations D019954||cognitive symptom D019954||cognitive symptoms D019954||manifestation cognitive D019954||manifestation neurobehavioral D019954||manifestations cognitive D019954||manifestations neurobehavioral D019954||neurobehavioral manifestation D019954||neurobehavioral signs and symptoms D019954||signs and symptoms neurobehavioral D019954||symptom cognitive D019954||symptoms cognitive D019957||motor skills disorders D019957||coordination disorder developmental D019957||developmental coordination disorder D019957||developmental coordination disorders D019957||motor skills disorder D019956||stereotypic movement disorder D019956||body rocking D019956||head banging D019956||movement disorder stereotypic D019956||stereotypic movement disorders 605841|D009290||narcolepsy 605841|D009290||gelineau apos s syndrome 605841|D009290||gelineaus syndrome 605841|D009290||gelineau apos s syndromes 605841|D009290||gelineau syndrome 605841|D009290||narcolepsy 2 susceptibility to 605841|D009290||narcolepsy 3 605841|D009290||narcolepsy 4 susceptibility to 605841|D009290||narcolepsy 5 susceptibility to 605841|D009290||narcolepsy 6 susceptibility to 605841|D009290||narcolepsy cataplexy syndrome 605841|D009290||narcolepsy cataplexy syndromes 605841|D009290||narcoleptic syndrome 605841|D009290||narcoleptic syndromes 605841|D009290||nrclp2 605841|D009290||nrclp3 605841|D009290||nrclp4 605841|D009290||nrclp5 605841|D009290||nrclp6 605841|D009290||paroxysmal sleep 605841|D009290||sleep paroxysmal 605841|D009290||syndrome gelineau 605841|D009290||syndrome gelineau apos s 605841|D009290||syndrome narcolepsy cataplexy 605841|D009290||syndrome narcoleptic 605841|D009290||syndromes gelineau apos s 605841|D009290||syndromes narcolepsy cataplexy 605841|D009290||syndromes narcoleptic D002583|603956||uterine cervical neoplasms D002583|603956||cancer cervix D002583|603956||cancer of cervix D002583|603956||cancer of the cervix D002583|603956||cancer of the uterine cervix D002583|603956||cancers cervix D002583|603956||cancers uterine cervical D002583|603956||cancer uterine cervical D002583|603956||cervical cancer D002583|603956||cervical cancers uterine D002583|603956||cervical cancer uterine D002583|603956||cervical neoplasm D002583|603956||cervical neoplasms D002583|603956||cervical neoplasms uterine D002583|603956||cervical neoplasm uterine D002583|603956||cervix cancer D002583|603956||cervix neoplasm D002583|603956||cervix neoplasms D002583|603956||neoplasm cervical D002583|603956||neoplasm cervix D002583|603956||neoplasms cervical D002583|603956||neoplasms cervix D002583|603956||neoplasms uterine cervical D002583|603956||neoplasm uterine cervical D002583|603956||uterine cervical cancer D002583|603956||uterine cervical cancers D002583|603956||uterine cervical neoplasm D019952||mental disorders diagnosed in childhood D019952||child mental disorder D019952||child mental disorders D019952||disorder child mental D019952||disorders child mental D019952||disorders usually diagnosed in infancy childhood or adolescence D019952||mental disorder child D019952||mental disorders child C566820||passovoy factor C566821||parotidomegaly hereditary bilateral D018640||stomatognathic system abnormalities D018640||abnormalities stomatognathic system D018640||abnormality stomatognathic system D018640||stomatognathic system abnormality C566823||parkinson disease familial type 1 C566823||atypical parkinson disease C566823||lewy body parkinsonism C566823||parkinson disease autosomal dominant D019970||cocaine related disorders D019970||abuse cocaine D019970||addiction cocaine D019970||cocaine abuse D019970||cocaine addiction D019970||cocaine dependence D019970||cocaine related disorder D019970||dependence cocaine D019970||dependences cocaine D019970||disorder cocaine related D019970||disorders cocaine related D005329||fetishism psychiatric D005329||fetishisms psychiatric 607154|C567078||allergic rhinitis 607154|C567078||alrh D020943||aids arteritis central nervous system D020943||aids associated cerebral aneurysmal arteriopathy D020943||central nervous system aids arteritis D020943||cerebral aneurysmal arteriopathy aids associated D020943||cns vasculitides hiv 1 associated D020943||cns vasculitides hiv associated D020943||cns vasculitis hiv 1 associated D020943||cns vasculitis hiv associated D020943||hiv 1 associated cns vasculitides D020943||hiv 1 associated cns vasculitis D020943||hiv associated cns vasculitides D020943||hiv associated cns vasculitis D020943||hiv associated vasculitis of the central nervous system D020943||vasculitides hiv 1 associated cns D020943||vasculitides hiv associated cns D020943||vasculitis hiv 1 associated cns D020943||vasculitis hiv associated cns D020943||vasculitis of the central nervous system hiv associated D005327||fetal resorption D005327||fetal resorptions D005327||resorption fetal D005327||resorptions fetal D020941||myasthenia gravis neonatal D020941||antenatal myasthenia gravis D020941||myasthenia gravis antenatal D020941||myasthenia gravis neonatal persistent D020941||myasthenia gravis neonatal transient D020941||myasthenia gravis persistent neonatal D020941||myasthenia gravis transient neonatal D020941||neonatal myasthenia gravis D020941||neonatal myasthenia gravis persistent D020941||neonatal myasthenia gravis transient D020941||persistent neonatal myasthenia gravis D020941||transient neonatal myasthenia gravis D007984||leydig cell tumor D007984||interstitial cell tumor D007984||interstitial cell tumors D007984||tumor interstitial cell D007984||tumor leydig cell D007984||tumors interstitial cell D005320||fetal macrosomia D005320||fetal macrosomias D005320||macrosomia fetal D005320||macrosomias fetal C538322|602782||histiocytosis with joint contractures and sensorineural deafness C538322|602782||faisalabad histiocytosis C538322|602782||histiocytosis and lymphadenopathy with or without cutaneous cardiac and or endocrine features joint contractures and or deafness C538322|602782||histiocytosis lymphadenopathy plus syndrome C538322|602782||hjcd C538322|602782||h syndrome C538322|602782||hyperpigmentation cutaneous with hypertrichosis hepatosplenomegaly heart anomalies and hypogonadism with or without hearing loss C538322|602782||phid C538322|602782||pigmented hypertrichosis with insulin dependent diabetes mellitus C538322|602782||pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome C538322|602782||rosai dorfman disease familial C538322|602782||shml C538322|602782||sinus histiocytosis and massive lymphadenopathy D005322||fetal membranes premature rupture D005322||membrane premature rupture pregnancy D005322||membrane premature ruptures pregnancy D005322||premature rupture of fetal membranes D005322||premature rupture of membrane pregnancy D005322||preterm premature rupture of fetal membranes D005322||preterm prom pregnancy D005322||prom pregnancy D005322||prom preterm pregnancy C566827||parietal foramina 1 D006660||histoplasmosis D006660||histoplasmoses C566465|609636||alzheimer disease 10 C566465|609636||ad10 C566465|609636||alzheimer disease familial 10 D005330||fetofetal transfusion D005330||cross transfusion intrauterine D005330||cross transfusions intrauterine D005330||fetal transfusion syndrome D005330||fetal transfusion syndromes D005330||fetofetal transfusions D005330||fetofetal transfusion syndrome D005330||fetofetal transfusion syndromes D005330||intrauterine cross transfusion D005330||intrauterine cross transfusions D005330||syndrome fetal transfusion D005330||syndrome fetofetal transfusion D005330||syndromes fetal transfusion D005330||syndromes fetofetal transfusion D005330||syndromes twin to twin transfusion D005330||syndromes twin transfusion D005330||syndrome twin to twin transfusion D005330||syndrome twin transfusion D005330||transfusion fetofetal D005330||transfusions fetofetal D005330||transfusions twin D005330||transfusion syndrome fetal D005330||transfusion syndrome fetofetal D005330||transfusion syndromes fetal D005330||transfusion syndromes fetofetal D005330||transfusion syndromes twin D005330||transfusion syndromes twin to twin D005330||transfusion syndrome twin D005330||transfusion syndrome twin to twin D005330||transfusion twin D005330||twin to twin transfusion syndrome D005330||twin to twin transfusion syndromes D005330||twin transfusion D005330||twin transfusions D005330||twin transfusion syndrome D005330||twin transfusion syndromes D005330||twin twin transfusion syndrome D019969||amphetamine related disorders D019969||abuse amphetamine D019969||addiction amphetamine D019969||amphetamine abuse D019969||amphetamine addiction D019969||amphetamine dependence D019969||dependence amphetamine D019969||disorder amphetamine related D019969||disorders amphetamine related C567134|220290||deafness autosomal recessive 1a C567134|220290||deafness digenic gjb2 gjb3 C567134|220290||deafness digenic gjb2 gjb3 included C567134|220290||deafness digenic gjb2 gjb6 C567134|220290||deafness digenic gjb2 gjb6 included C567134|220290||dfnb1a D020945||lupus vasculitis central nervous system D020945||central nervous system lupus D020945||central nervous system lupus vasculitis D020945||central nervous system systemic lupus erythematosis D020945||lupus meningoencephalitides D020945||lupus meningoencephalitis D020945||meningoencephalitides lupus D020945||meningoencephalitis lupus D020945||neuropsychiatric systemic lupus erythematosus D020945||systemic lupus erythematosis central nervous system D019966||substance related disorders D019966||abuse drug D019966||abuses substance D019966||abuse substance D019966||addiction drug D019966||addiction substance D019966||dependence drug D019966||dependence substance D019966||disorder drug use D019966||disorder substance use D019966||drug abuse D019966||drug addiction D019966||drug dependence D019966||drug habituation D019966||drug use disorder D019966||drug use disorders D019966||habituation drug D019966||organic mental disorders substance induced D019966||substance abuse D019966||substance abuses D019966||substance addiction D019966||substance dependence D019966||substance use disorder D019966||substance use disorders D019965||delirium dementia amnestic cognitive disorders D019965||clerambault syndrome D019965||disorders organic mental D019965||kandinsky syndrome D019965||mental disorder organic D019965||mental disorders organic D019965||nonpsychotic organic brain syndrome D019965||organic brain syndrome nonpsychotic D019965||organic mental disorder D019965||organic mental disorders D019965||organic mental disorders psychotic D019965||psychoses traumatic D019965||traumatic psychoses D019968||sexual and gender disorders D019967||schizophrenia and disorders with psychotic features 138110||glucose 6 phosphate dehydrogenase like 138110||g6pdl D019962||reactive attachment disorder D019962||attachment disorder reactive D019962||attachment disorders reactive D019962||disorder reactive attachment D019962||disorders reactive attachment D019962||reactive attachment disorders D018630||vitreoretinopathy proliferative D018630||inflammatories vitreoretinopathy neovascular D018630||inflammatory vitreoretinopathy neovascular D018630||neovascular inflammatories vitreoretinopathy D018630||neovascular inflammatory vitreoretinopathy D018630||proliferative vitreoretinopathies D018630|193235||proliferative vitreoretinopathy D018630||vitreoretinopathies proliferative D018630||vitreoretinopathy neovascular inflammatories D018630|193235||vitreoretinopathy neovascular inflammatory D019964||mood disorders D019964||affective disorder D019964||affective disorders D019964||disorder affective D019964||disorder mood D019964||disorders affective D019964||disorders mood D019964||mood disorder D018633||pulmonary atresia D018633||atresia pulmonary D018633||atresia pulmonary valve D018633||atresias pulmonary D018633||atresias pulmonary valve D018633||pulmonary atresias D018633||pulmonary valve atresia D018633||pulmonary valve atresias D018633||valve atresia pulmonary D018633||valve atresias pulmonary 136680|D052159||frasier syndrome 136680|D052159||syndrome frasier D006628||hirsutism C565537|233420||46 xy gonadal dysgenesis complete or partial dhh related C565537|233420||46 xy sex reversal 7 C565537|233420||46 xy sex reversal partial or complete dhh related C565537|233420||gdxym C565537|233420||gonadal dysgenesis xy male limited C565537|233420||srxy7 203200|C537730||oculocutaneous albinism type 2 203200|C537730||albinism 2 203200|C537730||albinism ii 203200|C537730||albinism ii albinism brown oculocutaneous included 203200|C537730||albinism oculocutaneous type 2 203200|C537730||albinism oculocutaneous type ii 203200|C537730||albinoidism 203200|C537730||boca included 203200|C537730||brown oculocutaneous albinism included 203200|C537730||oca2 203200|C537730||oculocutaneous albinism type ii 203200|C537730||oculocutaneous albinism tyrosinase positive 203200|C537730||tyrosinase positive oculocutaneous albinism D007955||leukemoid reaction D007955||leukemoid reactions D007955||reaction leukemoid D007955||reactions leukemoid C537415|166700||buschke ollendorff syndrome C537415|166700||bos C537415|166700||dermatofibrosis disseminated with osteopoikilosis C537415|166700||dermatofibrosis lenticularis disseminata isolated included C537415|166700||dermatofibrosis lenticularis disseminata with osteopoikilosis C537415|166700||dermatoosteopoikilosis C537415|166700||osteopathia condensans disseminata C537415|166700||osteopathia condensans disseminata osteopoikilosis isolated included C537415|166700||osteopoikilosis with melorheostosis included D007953||leukemia radiation induced D007953||leukemias radiation induced D007953||radiation induced leukemia D007953||radiation induced leukemias C565611|224230||dyskeratosis congenita autosomal recessive C565611|224230||dkcb1 C565611|224230||dyskeratosis congenita autosomal recessive 1 D007951||leukemia myeloid D007951||chronic monocytic leukemia D007951||chronic monocytic leukemias D007951||granulocytic leukemia D007951||granulocytic leukemias D007951||leukemia chronic monocytic D007951||leukemia granulocytic D007951||leukemia monocytic chronic D007951||leukemia myelocytic D007951||leukemia myelogenous D007951||leukemias chronic monocytic D007951||leukemias granulocytic D007951||leukemias myelocytic D007951||leukemias myelogenous D007951||leukemias myeloid D007951||monocytic leukemia chronic D007951||monocytic leukemias chronic D007951||myelocytic leukemia D007951||myelocytic leukemias D007951||myelogenous leukemia D007951||myelogenous leukemias D007951||myeloid leukemia D007951||myeloid leukemias D006620||hip fractures D006620||fractures hip D006620||fractures intertrochanteric D006620||fractures subtrochanteric D006620||fractures trochanteric D006620||intertrochanteric fractures D006620||subtrochanteric fractures D006620||trochanteric fractures D007952||leukemia plasma cell D007952||leukemia plasmacytic D007952||leukemias plasma cell D007952||leukemias plasmacytic D007952||plasma cell leukemia D007952||plasma cell leukemias D007952||plasmacytic leukemia D007952||plasmacytic leukemias D020938||epilepsy partial motor D020938||clonic seizures focal D020938||epilepsy focal motor D020938||epilepsy hemimotor D020938||epilepsy motor partial D020938||focal clonic seizure D020938||focal clonic seizures D020938||focal motor epilepsy D020938||focal tonic seizure D020938||focal tonic seizures D020938||hemimotor epilepsies D020938||hemimotor epilepsy D020938||hemimotor seizure disorder D020938||hemimotor seizure disorders D020938||motor epilepsy focal D020938||motor partial seizure disorder D020938||motor seizure disorder D020938||motor seizure disorders D020938||partial epilepsy motor D020938||partial seizure disorder motor D020938||seizure disorder hemimotor D020938||seizure disorder motor D020938||seizure disorder partial motor D020938||seizure disorders hemimotor D020938||seizure disorders motor D020938||seizure focal clonic D020938||seizures versive D020938||seizure versive D020938||tonic seizure focal D020938||tonic seizures focal D020938||versive seizure D020938||versive seizures D020937||epilepsy partial sensory D020937||epilepsy sensory D020937||epilepsy sensory partial D020937||focal seizure disorder sensory D020937||focal sensory seizure D020937||focal sensory seizures D020937||gustatory partial seizure D020937||gustatory partial seizures D020937||olfactory partial seizure D020937||olfactory partial seizures D020937||partial epilepsy sensory D020937||partial seizure gustatory D020937||partial seizure olfactory D020937||partial seizures gustatory D020937||partial seizures olfactory D020937||partial seizures vertiginous D020937||partial seizures visual D020937||partial seizure vertiginous D020937||partial seizure visual D020937||partial sensory seizure D020937||partial sensory seizures D020937||seizure disorder partial sensory D020937||seizure disorder sensory D020937||seizure disorder sensory focal D020937||seizure disorders sensory D020937||seizure focal sensory D020937||seizure gustatory partial D020937||seizure olfactory partial D020937||seizure partial sensory D020937||seizures focal sensory D020937||seizures olfactory partial D020937||seizures partial sensory D020937||seizures simple partial special sensory symptoms D020937||seizures vertiginous partial D020937||seizure vertiginous partial D020937||seizure visual partial D020937||sensory epilepsy D020937||sensory focal seizure disorder D020937||sensory partial epilepsy D020937||sensory partial seizure disorder D020937||sensory seizure disorder D020937||sensory seizure disorders D020937||sensory seizure focal D020937||sensory seizure partial D020937||sensory seizures focal D020937||sensory seizures partial D020937||simple partial seizures special sensory symptoms D020937||vertiginous partial seizure D020937||vertiginous partial seizures D020937||visual partial seizure D020937||visual partial seizures C567653|613287||charcot marie tooth disease axonal type 2n C567653|613287||charcot marie tooth disease axonal autosomal dominant type 2n C567653|613287||charcot marie tooth neuropathy axonal type 2n C567653|613287||cmt2n D018602||milk sickness D018602||sickness milk 609958||asthma related traits susceptibility to 3 609958||asrt3 D018601||king apos s evil D018601||evil king apos s D018601||kings evil 611102|C567010||deafness sensorineural and male infertility 611102|C567010||chromosome 15q15 3 deletion syndrome 611102|C567010||deafness infertility syndrome 611102|C567010||sensorineural deafness and male infertility C566800||platelet aggregation spontaneous D007968||leukoencephalopathy progressive multifocal D007968||encephalitis jc polyomavirus D007968||encephalopathies jc polyomavirus D007968||encephalopathy jc polyomavirus D007968||jc polyomavirus encephalitis D007968||jc polyomavirus encephalopathy D007968||leukoencephalopathies progressive multifocal D007968||multifocal leukoencephalopathies progressive D007968||multifocal leukoencephalopathy progressive D007968||progressive multifocal leukoencephalopathies D007968||progressive multifocal leukoencephalopathy 211980|D008175||lung neoplasms 211980|D008175||adenocarcinoma of lung included 211980|D008175||adenocarcinoma of lung susceptibility to 211980|D008175||alveolar cell carcinoma included 211980|D008175||cancer lung 211980|D008175||cancer of lung 211980|D008175||cancer of the lung 211980|D008175||cancer pulmonary 211980|D008175||cancers lung 211980|D008175||cancers pulmonary 211980|D008175||lncr1 211980|D008175||lncr2 included 211980|D008175||lncr3 211980|D008175||lncr4 211980|D008175||lncr5 211980|D008175||lung cancer 211980|D008175||lung cancer protection against included 211980|D008175||lung cancers 211980|D008175||lung cancer susceptibility 1 211980|D008175||lung cancer susceptibility 3 211980|D008175||lung cancer susceptibility 4 211980|D008175||lung cancer susceptibility 5 211980|D008175||lung neoplasm 211980|D008175||neoplasm lung 211980|D008175||neoplasm pulmonary 211980|D008175||neoplasms lung 211980|D008175||neoplasms pulmonary 211980|D008175||nicotine dependence susceptibility to lung cancer susceptibility 2 included 211980|D008175||nonsmall cell lung cancer included 211980|D008175||pulmonary cancer 211980|D008175||pulmonary cancers 211980|D008175||pulmonary neoplasm 211980|D008175||pulmonary neoplasms 211980|D008175||smoking as a quantitative trait locus 3 211980|D008175||sqtl3 D048550||hepatic insufficiency D048550||insufficiency hepatic D048550||insufficiency liver D048550||liver insufficiency D007969||leukomalacia periventricular D007969||cerebral leukomalacia neonatal D007969||cerebral leukomalacias neonatal D007969||cystic periventricular leukomalacia D007969||cystic periventricular leukomalacias D007969||encephalomalacia periventricular D007969||encephalomalacias periventricular D007969||leucomalacia periventricular D007969||leucomalacias periventricular D007969||leukomalacia cystic periventricular D007969||leukomalacia neonatal cerebral D007969||leukomalacias cystic periventricular D007969||leukomalacias neonatal cerebral D007969||leukomalacias periventricular D007969||neonatal cerebral leukomalacia D007969||neonatal cerebral leukomalacias D007969||periventricular encephalomalacia D007969||periventricular encephalomalacias D007969||periventricular leucomalacia D007969||periventricular leucomalacias D007969||periventricular leukomalacia D007969||periventricular leukomalacia cystic D007969||periventricular leukomalacias D007969||periventricular leukomalacias cystic C566806||phlebectasia of lips D020922||sleep wake transition disorders D020922||cramp nocturnal leg D020922||cramps nocturnal leg D020922||jactatio capitis nocturna D020922||leg cramp nocturnal D020922||leg cramps nocturnal D020922||movement disorders rhythmic nocturnal D020922||nocturna jactatio capitis D020922||nocturnal leg cramp D020922||nocturnal leg cramps D020922||nocturnal sleep head banging D020922||rhythmic movement disorders nocturnal D020922||sleep starts D020922||sleep talking D020922||sleep wake transitional disorder D020922||sleep wake transitional disorders D020922||sleep wake transition disorder D020922||somnolescent starts D020922||starts sleep D020922||starts somnolescent D020922||talking sleep D020922||transitional disorder sleep wake D020922||transitional disorders sleep wake D020922||transition disorder sleep wake D020922||transition disorders sleep wake 253310|C537194||lethal congenital contracture syndrome 1 253310|C537194||lccs 253310|C537194||lccs1 253310|C537194||lethal autosomal recessive syndrome of multiple congenital contractures 253310|C537194||multiple contracture syndrome finnish type C566807||pheochromocytoma islet cell tumor syndrome D007967||leukoedema oral D007967||leukoedemas oral D007967||oral leukoedema D007967||oral leukoedemas D020921||sleep arousal disorders D020921||arousal confusional D020921||arousal disorder sleep D020921||arousal disorders sleep D020921||arousals confusional D020921||confusional arousal D020921||confusional arousals D020921||sleep arousal disorder C566808||phagocytosis plasma related defect in D007964||leukocytosis D007964||leukocytoses D007964||pleocytoses D007964||pleocytosis D020920||dyssomnias D020920||adjustment sleep disorder D020920||adjustment sleep disorders D020920||dyssomnia D020920||eating drinking syndrome nocturnal D020920||eating drinking syndromes nocturnal D020920||environmental sleep disorder D020920||environmental sleep disorders D020920||extrinsic sleep disorder D020920||extrinsic sleep disorders D020920||inadequate sleep hygiene D020920||limit setting sleep disorder D020920||limit setting sleep disorders D020920||nocturnal eating drinking syndrome D020920||nocturnal eating drinking syndromes D020920||sleep disorder adjustment D020920||sleep disorder environmental D020920||sleep disorder extrinsic D020920||sleep disorder limit setting D020920||sleep disorders adjustment D020920||sleep disorders environmental D020920||sleep disorders extrinsic D020920||sleep disorders limit setting D020920||sleep hygiene inadequate D020920||syndrome nocturnal eating drinking D020920||syndromes nocturnal eating drinking C566809||normokalemic periodic paralysis potassium sensitive 270420|C562576||diarrhea 3 secretory sodium congenital 270420|C562576||diar3 270420|C562576||sodium diarrhea congenital 270420|C562576||sodium diarrhea congenital csd diarrhea 3 secretory sodium congenital syndromic included C566803||6 phosphogluconolactonase deficiency C566803||6pgl deficiency D007960||leukocyte disorders D007960||disorder leukocyte D007960||disorders leukocyte D007960||leukocyte disorder 159001|C535898||limb girdle muscular dystrophy type 1b 159001|C535898||lgmd1b 159001|C535898||muscular dystrophy limb girdle type 1b 159001|C535898||muscular dystrophy proximal type 1b D007970||leukopenia D007970||leukocytopenia D007970||leukocytopenias D007970||leukopenias C537348|600383||mesomelia synostoses syndrome C537348|600383||chromosome 8q13 deletion syndrome C537348|600383||mesomelia synostoses C537348|600383||mesomelic dysplasia syndromic C537348|600383||mesomelic dysplasia with acral synostoses verloes david pfeiffer type C537348|600383||verloes david syndrome D062846||non filarial lymphedema D062846||lymphedema non filarial D062846||lymphedemas non filarial D062846||non filarial lymphedemas C567214|612644||deafness autosomal dominant 2b C567214|612644||dfna2b D020925||hypoxia ischemia brain D020925||anoxia ischemia brain D020925||anoxia ischemia cerebral D020925||anoxia ischemias brain D020925||anoxia ischemias cerebral D020925||anoxic ischemic encephalopathies D020925||anoxic ischemic encephalopathy D020925||brain anoxia ischemia D020925||brain anoxia ischemias D020925||brain hypoxia ischemia D020925||brain hypoxia ischemias D020925||brain ischemia anoxia D020925||brain ischemia anoxias D020925||brain ischemia hypoxia D020925||brain ischemia hypoxias D020925||cerebral anoxia ischemia D020925||cerebral anoxia ischemias D020925||cerebral hypoxia ischemia D020925||cerebral hypoxia ischemias D020925||cerebral ischemia anoxia D020925||cerebral ischemia anoxias D020925||cerebral ischemia hypoxia D020925||cerebral ischemia hypoxias D020925||encephalopathies anoxic ischemic D020925||encephalopathies hypoxic ischemic D020925||encephalopathies ischemic hypoxic D020925||encephalopathy anoxic ischemic D020925||encephalopathy hypoxic ischemic D020925||encephalopathy ischemic hypoxic D020925||hypoxia ischemia cerebral D020925||hypoxia ischemias brain D020925||hypoxia ischemias cerebral D020925||hypoxic ischemic encephalopathies D020925||hypoxic ischemic encephalopathy D020925||ischemia anoxia brain D020925||ischemia anoxia cerebral D020925||ischemia anoxias brain D020925||ischemia anoxias cerebral D020925||ischemia hypoxia brain D020925||ischemia hypoxia cerebral D020925||ischemia hypoxias brain D020925||ischemia hypoxias cerebral D020925||ischemic hypoxic encephalopathies D020925||ischemic hypoxic encephalopathy D020924||urological manifestations D020924||manifestations urological D020924||manifestation urological D020924||urological manifestation D020923||rem sleep parasomnias D020923||erection sleep related painful D020923||erections sleep related painful D020923||painful erection sleep related D020923||painful erections sleep related D020923||parasomnia rem sleep D020923||parasomnias rem sleep D020923||rapid eye movement sleep parasomnias D020923||rem sleep parasomnia D020923||rem sleep related sinus arrest D020923||sinus arrest rem sleep related D020923||sleep related painful erection D020923||sleep related painful erections D020923||sleep rem parasomnias C537365|308200||ichthyosis and male hypogonadism C537365|308200||ichthyosis bilateral cryptorchidism hypogenitalism and mental retardation C537365|308200||ruds included C537365|308200||rud syndrome included D018614||sweating sickness D018614||english sweating sickness D018614||sickness sweating D018614||sudor anglicus C537307|608768||spinocerebellar ataxia 8 C537307|608768||sca8 D007939||leukemia l1210 D007939||l 1210 leukemia D007939||l1210 leukemia D007939||leukemia l 1210 613194|C567712||retinitis pigmentosa 50 613194||retinitis pigmentosa concentric included 613194||rp50 D006606||hiccup D006606||hiccough D006606||hiccoughs D006606||hiccups C536560|275630||triglyceride storage disease with impaired long chain fatty acid oxidation C536560|275630||cds C536560|275630||chanarin dorfman disease C536560|275630||chanarin dorfman syndrome C536560|275630||dcs C536560|275630||dorfman chanarin syndrome C536560|275630||ichthyosiform erythroderma with leukocyte vacuolation C536560|275630||ichthyotic neutral lipid storage disease C536560|275630||neutral lipid storage disease with ichthyosis C536560|275630||neutral lipid storage myopathy C536560|275630||nlsdi C536560|275630||triglyceride storage disease with ichthyosis D007938||leukemia D007938||leucocythaemia D007938||leucocythaemias D007938||leucocythemia D007938||leucocythemias D007938||leukemias D006607||adenoma sweat gland D006607||adenomas sweat gland D006607||sweat gland adenoma D006607||sweat gland adenomas D006607||syringadenoma D006607||syringadenomas C538254|105563||anal sphincter dysplasia C538254|105563||asdp C563790|609129||auditory neuropathy autosomal dominant 1 C563790|609129||auditory neuropathy nonsyndromic dominant C563790|609129||auna1 C563790|609129||nsdan C535397|601536||athabaskan brainstem dysgenesis C535397|601536||abds C535397|601536||athabaskan brainstem dysgenesis syndrome C535397|601536||bosley salih alorainy syndrome C535397|601536||bsas included C535397|601536||navajo brainstem syndrome C535397|601536||navajo brainstem syndrome bosley salih alorainy syndrome included C564616|607136||spinocerebellar ataxia 17 C564616|607136||hdl4 C564616|607136||huntington disease like 4 C564616|607136||sca17 D020919||sleep disorders intrinsic D020919||hypersomnia posttraumatic D020919||hypersomnia post traumatic D020919||hypersomnias posttraumatic D020919||hypersomnias post traumatic D020919||intrinsic sleep disorder D020919||intrinsic sleep disorders D020919||posttraumatic hypersomnia D020919||post traumatic hypersomnia D020919||posttraumatic hypersomnias D020919||post traumatic hypersomnias D020919||sleep disorder intrinsic D020919||sleep state misperception D020919||sleep state misperceptions D020918||complex regional pain syndromes D020918||crps complex regional pain syndromes D020918||pain syndromes regional complex D005271|608805||femur head necrosis D005271|608805||anfh D005271|608805||aseptic necrosis of femur head D005271|608805||avascular necrosis of femoral head primary D005271|608805||avascular necrosis of femur head D005271|608805||femoral head aseptic necrosis of D005271|608805||femoral head avascular necrosis of D005271|608805||femur head necroses D005271|608805||head necrosis femur D005271|608805||ischemic necrosis of femoral head D005271|608805||necrosis aseptic of femur head D005271|608805||necrosis avascular of femur head D005271|608805||necrosis femur head D005271|608805||osteonecrosis of femoral head C564510|300471||cubitus valgus with mental retardation and unusual facies D020914||myopathies structural congenital D020914||aggregate myopathies tubular D020914||aggregate myopathy tubular D020914||autosomal dominant myotubular myopathy D020914||autosomal recessive centronuclear myopathy D020914||centronuclear myopathies D020914||centronuclear myopathies x linked D020914||centronuclear myopathy D020914||centronuclear myopathy x linked D020914|C580011||congenital fiber type disproportion D020914||congenital non progressive myopathies D020914||congenital non progressive myopathy D020914||congenital structural myopathies D020914||congenital structural myopathy D020914|255310||fiber type disproportion myopathy congenital D020914||myopathies centronuclear D020914||myopathies congenital non progressive D020914||myopathies congenital structural D020914||myopathies myotubular D020914||myopathies tubular aggregate D020914||myopathies x linked centronuclear D020914||myopathies x linked myotubular D020914||myopathy 1 myotubular D020914||myopathy 1s myotubular D020914||myopathy centronuclear D020914||myopathy congenital non progressive D020914||myopathy congenital structural D020914|255310||myopathy congenital with fiber type disproportion D020914||myopathy myotubular D020914||myopathy tubular aggregate D020914||myopathy x linked centronuclear D020914||myopathy x linked myotubular D020914||myotubular myopathies D020914||myotubular myopathies x linked D020914||myotubular myopathy D020914|310400||myotubular myopathy 1 D020914||myotubular myopathy 1s D020914||non progressive myopathies congenital D020914||non progressive myopathy congenital D020914||structural myopathies congenital D020914||structural myopathy congenital D020914||tubular aggregate myopathies D020914||tubular aggregate myopathy D020914||x linked centronuclear myopathies D020914||x linked centronuclear myopathy D020914||x linked myotubular myopathies D020914||x linked myotubular myopathy D020914|310400||xlmtm C567675|613270||corneal dystrophy fuchs endothelial 6 C567675|613270|C567674|613271|C567676|613269|C567677|613268|C535479|610158|C567678|613267||corneal dystrophy fuchs endothelial late onset C567675|613270||fecd6 D006619||hip dysplasia canine D006619||canine hip dysplasia D006619||dysplasia canine hip D012497|268800||sandhoff disease D012497|268800||adult sandhoff disease D012497|268800||beta hexosaminidase beta subunit deficiencies D012497|268800||beta hexosaminidase beta subunit deficiency D012497|268800||deficiencies beta hexosaminidase beta subunit D012497|268800||deficiencies total hexosaminidase D012497|268800||deficiency beta hexosaminidase beta subunit D012497|268800||deficiency disease hexosaminidase a and b D012497|268800||deficiency total hexosaminidase D012497|268800||disease sandhoff jatzkewitz pilz D012497|268800||gangliosidosis g m2 type ii D012497|268800||gangliosidosis gm2 type ii D012497|268800||gm2 gangliosidoses type ii D012497|268800||gm2 gangliosidosis type 2 D012497|268800||g m2 gangliosidosis type ii D012497|268800||gm2 gangliosidosis type ii D012497|268800||hexosaminidase a and b deficiency disease D012497|268800||hexosaminidase deficiencies total D012497|268800||hexosaminidase deficiency total D012497|268800||hexosaminidases a and b deficiency D012497|268800||hexosaminidases a and b deficiency sandhoff disease adult type included D012497|268800||infantile sandhoff disease D012497|268800||juvenile sandhoff disease D012497|268800||sandhoff disease adult D012497|268800||sandhoff disease infantile D012497|268800||sandhoff disease infantile type included D012497|268800||sandhoff disease juvenile D012497|268800||sandhoff disease juvenile type included D012497|268800||sandhoff jatzkewitz pilz disease D012497|268800||sandhoff apos s disease D012497|268800||sandhoffs disease D012497|268800||total hexosaminidase deficiencies D012497|268800||total hexosaminidase deficiency D012497|268800||type ii gm2 gangliosidoses D012497|268800||type ii gm2 gangliosidosis 610906||asthma related traits susceptibility to 4 610906||asrt4 610906||asthma and allergic rhinitis susceptibility to D007948||leukemia monocytic acute D007948||acute monoblastic leukemia D007948||acute monoblastic leukemias D007948||acute monocytic leukemia D007948||acute monocytic leukemias D007948||leukemia acute monocytic D007948||leukemia monoblastic acute D007948||leukemia myeloid acute m5 D007948||leukemia myeloid schilling type D007948||leukemias acute monoblastic D007948||leukemias acute monocytic D007948||leukemia schilling type myeloid D007948||monoblastic leukemia acute D007948||monoblastic leukemias acute D007948||monocytic leukemia acute D007948||monocytic leukemias acute D007948||myeloid leukemia acute m5 D007948||myeloid leukemia schilling type D007948||schilling type myeloid leukemia D006617||hip dislocation D006617||dislocation hip D006617||dislocations hip D006617||displacement hip D006617||displacements hip D006617||hip dislocations D006617||hip displacement D006617||hip displacements D006617|D006618||hip dysplasia D006618||hip dislocation congenital D006618||congenital dysplasia of the hip D006618||congenital hip dislocation D006618||congenital hip dislocations D006618||congenital hip displacement D006618||congenital hip displacements D006618||congenital hip dysplasia D006618||congenital hip dysplasias D006618||dislocation congenital hip D006618||dislocation of hip congenital D006618||dislocations congenital hip D006618||displacement congenital hip D006618||displacements congenital hip D006618||dysplasia congenital hip D006618||dysplasias congenital hip D006618||hip dislocation of congenital D006618||hip dislocations congenital D006618||hip displacement congenital D006618||hip displacements congenital D006618|142700||hip dysplasia congenital D006618||hip dysplasia congenital nonsyndromic D006618||hip dysplasias congenital D007946||leukemia mast cell D007946||leukemias mast cell D007946||mast cell leukemia D007946||mast cell leukemias D007947||leukemia megakaryoblastic acute D007947||acute megakaryoblastic leukemia D007947||acute megakaryoblastic leukemias D007947||acute megakaryocytic leukemia D007947||acute megakaryocytic leukemias D007947||leukemia acute megakaryoblastic D007947||leukemia acute megakaryocytic D007947||leukemia megakaryocytic D007947||leukemia megakaryocytic acute D007947||leukemia myeloid acute m7 D007947||leukemias acute megakaryoblastic D007947||leukemias acute megakaryocytic D007947||leukemias megakaryocytic D007947||megakaryoblastic leukemia acute D007947||megakaryoblastic leukemias acute D007947||megakaryocytic leukemia D007947||megakaryocytic leukemia acute D007947||megakaryocytic leukemias D007947||megakaryocytic leukemias acute D007947||myeloid leukemia acute m7 D006616||hip contracture D006616||contracture hip D006616||contractures hip D006616||hip contractures D007945||leukemia lymphoid D007945||leukemia lymphocytic D007945||leukemias lymphocytic D007945||leukemias lymphoid D007945||lymphocytic leukemia D007945||lymphocytic leukemias D007945||lymphoid leukemia D007945||lymphoid leukemias D007942||leukemia experimental D007942||animal leukemia model D007942||animal leukemia models D007942||experimental leukemia D007942||experimental leukemias D007942||leukemia model animal D007942||leukemia models animal D007942||leukemias experimental D007943||leukemia hairy cell D007943||hairy cell leukemia D007943||hairy cell leukemias D007943||leukemias hairy cell D007943||leukemic reticuloendothelioses D007943||leukemic reticuloendotheliosis D007943||reticuloendothelioses leukemic D007943||reticuloendotheliosis leukemic D007940||leukemia l5178 D007940||l5178 leukemia D007940||l5178 lymphoma D007940||lymphoma l5178 D007941||leukemia p388 D007941||p388d 1 leukemia D007941||p388 leukemia D006610||high pressure neurological syndrome D006610||experimental high pressure neurological syndrome D006610||high pressure nervous syndrome D006610||high pressure neural syndrome D006610||high pressure neurological syndrome experimental D006610||hpns D006610||hpnss C566910|611590||renal tubular acidosis distal with hemolytic anemia C566910|611590||rta distal autosomal recessive with hemolytic anemia C566910|611590||rta distal autosomal recessive with hemolytic anemia renal tubular acidosis distal with normal red cell morphology included D059226||nociceptive pain D059226||nociceptive pains D059226||pain nociceptive D059226||pains nociceptive D059226||pain somatic D059226||pains somatic D059226||pains tissue D059226||pain tissue D059226||somatic pain D059226||somatic pains D059226||tissue pain D059226||tissue pains D059228||renal nutcracker syndrome D059228||nutcracker phenomenon renal D059228||nutcracker phenomenons renal D059228||nutcracker syndrome renal D059228||nutcracker syndromes renal D059228||phenomenon renal nutcracker D059228||phenomenons renal nutcracker D059228||renal nutcracker phenomenon D059228||renal nutcracker phenomenons D059228||renal nutcracker syndromes D059228||renal vein entrapment syndrome 153670||bernard soulier syndrome type a2 autosomal dominant 153670||bssa2 C565299|605746||anisomastia C567558|612813||spondyloepimetaphyseal dysplasia aggrecan type C567558|612813||semd aggrecan type C536333|174700||polydactyly preaxial 4 C536333|174700||cp1 included C536333|174700||polydactyly preaxial iv C536333|174700||polysyndactyly uncomplicated C536333|174700||polysyndactyly uncomplicated crossed polydactyly type i included D001606|231200||bernard soulier syndrome D001606|231200||bdplt1 D001606|231200||bernard soulier syndrome type b included D001606|231200||bernard soulier syndrome type c included D001606|231200||bleeding disorder platelet type 1 D001606|231200|C536611|132700||bss D001606|231200||deficiency of platelet glycoprotein 1b D001606|231200||giant platelet syndrome D001606|231200||glycoprotein ib platelet deficiency of D001606|231200||platelet glycoprotein 1b deficiency of D001606|231200||platelet glycoprotein ib deficiency D001606|231200||platelet syndromes giant D001606|231200||syndrome bernard soulier D001606|231200||syndrome giant platelet D001606|231200||syndromes giant platelet D001606|231200||von willebrand factor receptor deficiency D001606|231200||von willebrand factor receptor deficiency bernard soulier syndrome type a1 included C536227|162800||cyclic neutropenia C536227|162800||cyclic hematopoesis C536227|162800||cyclic hematopoiesis C536227|162800||cyclic leucopenia C536227|162800||neutropenia cyclic C536227|162800||periodic neutropenia C538346|601214||naxos disease C538346|601214||keratosis palmoplantaris with arrhythmogenic cardiomyopathy C538346|601214||mal de naxos C538346|601214||palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair C538346|601214||woolly hair palmoplantar keratoderma and cardiac abnormalities D011293||premenstrual syndrome D011293||premenstrual syndromes D011293||premenstrual tension D011293||premenstrual tensions D011293||syndrome premenstrual D011293||syndromes premenstrual D011293||tension premenstrual D011293||tensions premenstrual D011297||prenatal exposure delayed effects D011297||delayed effects prenatal exposure D011297||late effects prenatal exposure D006014|232800||glycogen storage disease type vii D006014|232800||deficiencies muscle phosphofructokinase D006014|232800||deficiencies pfkm D006014|232800||deficiency muscle phosphofructokinase D006014|232800||deficiency pfkm D006014|232800||disease tarui D006014|232800||disease tarui apos s D006014|232800||glycogenosis 7 D006014|232800||glycogen storage disease vii D006014|232800||gsd7 D006014|232800||gsd vii D006014|232800||muscle phosphofructokinase deficiencies D006014|232800||muscle phosphofructokinase deficiency D006014|232800||pfkm deficiencies D006014|232800||pfkm deficiency D006014|232800||phosphofructokinase deficiencies muscle D006014|232800||phosphofructokinase deficiency muscle D006014|232800||tarui disease D006014|232800||tarui apos s disease D006014|232800||taruis disease D020162|207800||hyperargininemia D020162|207800||arg1 deficiencies D020162|207800||arg1 deficiency D020162|207800||arginase deficiencies D020162|207800||arginase deficiency D020162|207800||arginase deficiency disease D020162|207800||arginase deficiency diseases D020162|207800||argininemia D020162|207800||deficiencies arg1 D020162|207800||deficiencies arginase D020162|207800||deficiency arg1 D020162|207800||deficiency arginase D020162|207800||deficiency disease arginase D020162|207800||deficiency diseases arginase D020162|207800||hyperargininemias 215300|D002813||chondrosarcoma 215300|D002813||chondrosarcomas D050798||sunct syndrome D050798||sunct syndromes D050798||syndromes sunct D050798||syndrome sunct C536137|174000||medullary cystic kidney disease 1 C536137|174000||admckd1 C536137|174000||mckd C536137|174000||mckd1 C536137|174000||medullary cystic kidney disease autosomal dominant C536137|174000||polycystic kidneys medullary type C536861|608220||spastic paraplegia 25 autosomal recessive C536861|608220||disc herniation with spastic paraplegia autosomal recessive C536861|608220||spg25 C536861|608220||spinal disc herniation with autosomal recessive spastic paraplegia C567343|612347||jervell and lange nielsen syndrome 2 C567343|612347||jlns2 607279||systemic lupus erythematosus with hemolytic anemia susceptibility to 1 607279||sleh1 607279||systemic lupus erythematosus hemolytic anemia related 607277||asthma related traits susceptibility to 1 607277||as1 607277||asrt1 D011271||pregnancy ectopic D011271||ectopic pregnancies D011271||ectopic pregnancy D011271||ovarian pregnancies D011271||ovarian pregnancy D011271||pregnancies ectopic D011271||pregnancies ovarian D011271||pregnancy ovarian D011274||pregnancy tubal D011274||pregnancies tubal D011274||tubal pregnancies D011274||tubal pregnancy D011273||pregnancy prolonged D011273||pregnancies prolonged D011273||prolonged pregnancies D011273||prolonged pregnancy C535803|271980||succinic semialdehyde dehydrogenase deficiency C535803|271980||4 hydroxybutyric aciduria C535803|271980||4 hydroxybutyricaciduria C535803|271980||gaba metabolic defect C535803|271980||gamma hydroxybutyric acidemia C535803|271980||gamma hydroxybutyric aciduria C535803|271980||ssadhd C535803|271980||ssadh deficiency C564675|606705||deafness autosomal dominant 36 C564675|606705||dfna36 163000||capillary malformations congenital 163000|C562760||capillary malformations 163000||cmal 163000||cmc 163000|C535816||nevi flammei familial multiple 163000|D019339||port wine stain 602629|C538003||dystonia 6 torsion 602629|C538003||dyt6 602629|C538003||torsion dystonia adult onset mixed type D062787||drug overdose D062787||drug overdoses D062787||overdose drug D062787||overdoses drug D062788||adenomyosis D062788||adenomyoses C566490|609994||myopia 11 C566490|609994||myopia 11 autosomal dominant C566490|609994||myp11 605275|C548081||noonan syndrome 2 605275|C548081||noonan syndrome autosomal recessive 605275|C548081||ns2 C564300|608031||amyotrophic lateral sclerosis 7 C564300|608031||als7 D011289||preleukemia D011289||preleukemias 612780|C557674||sesame syndrome 612780|C557674||east syndrome 612780|C557674||epilepsy ataxia sensorineural deafness and tubulopathy 612780|C557674||seizures sensorineural deafness ataxia mental retardation and electrolyte imbalance 612780|C557674||sesames 191900|607115|D056587||muckle wells syndrome 191900||caps2 191900||cryopyrin associated periodic syndrome 2 191900||mws 191900|607115|D056587||uda syndrome 191900|607115|D056587||urticaria deafness amyloidosis syndrome C567680|613265||waardenburg syndrome type 4b C567680|613265||waardenburg syndrome type 4b with hirschsprung disease C567680|613265||waardenburg syndrome type ivb C567680|613265||ws4b D044904||mannosidase deficiency diseases D044904||deficiency disease mannosidase D044904||deficiency diseases mannosidase D044904||deficiency syndrome mannosidase D044904||deficiency syndromes mannosidase D044904||diseases mannosidase deficiency D044904||mannosidase deficiency disease D044904||mannosidase deficiency syndrome D044904||mannosidase deficiency syndromes D044904||mannosidoses D044904||mannosidosis D015160|236750||hydrops fetalis D015160|236750||edema fetal D015160|236750||familial non immune hydrops fetalis D015160|236750||fetal edema D015160|236750||fetal hydrops D015160|236750||fetali idiopathic hydrops D015160|236750||fetalis idiopathic hydrops D015160|236750||fetalis nonimmune hydrops D015160|236750||fetalis nonimmunes hydrops D015160|236750||hemoglobin h hydrops fetalis syndrome included D015160|236750||hydrops fetal D015160|236750||hydrops fetali idiopathic D015160|236750||hydrops fetali nonimmune D015160|236750||hydrops fetalis alpha thalassemia related included D015160|236750||hydrops fetalis idiopathic D015160|236750||hydrops fetalis immune D015160|236750||hydrops fetalis nonimmune D015160|236750||hydrops fetalis non immune D015160|236750||hydrops fetalis nonimmunes D015160|236750||idiopathic hydrops fetali D015160|236750||idiopathic hydrops fetalis D015160|236750||immune hydrops fetalis D015160|236750||nihf D015160|236750||nonimmune hydrops fetali D015160|236750||nonimmune hydrops fetalis D015160|236750||non immune hydrops fetalis D015160|236750||nonimmunes hydrops fetalis 608584||asthma related traits susceptibility to 2 608584||asrt2 D044905|248510|C538599||beta mannosidosis D044905||beta mannosidase deficiencies D044905|248510|C538599||beta mannosidase deficiency D044905||beta mannosidoses D044905||deficiency beta mannosidase D044905||lysosomal beta a mannosidosis D044905|248510|C538599||mannosidosis beta a lysosomal D011250||pregnancy complications hematologic D011250||complication hematological pregnancy D011250||complication hematologic pregnancy D011250||complications hematological pregnancy D011250||complications hematologic pregnancy D011250||hematological pregnancy complication D011250||hematological pregnancy complications D011250||hematologic pregnancy complication D011250||hematologic pregnancy complications D011250||pregnancies hematologic complications D011250||pregnancy complication hematologic D011250||pregnancy complication hematological D011250||pregnancy complications hematological D011250||pregnancy hematologic complications D011252||pregnancy complications neoplastic D011252||complication neoplastic pregnancy D011252||complications neoplastic pregnancy D011252||neoplastic pregnancy complication D011252||neoplastic pregnancy complications D011252||pregnancies neoplastic complications D011252||pregnancy complication neoplastic D011252||pregnancy neoplastic complications D011251||pregnancy complications infectious D011251||complication infectious pregnancy D011251||complications infectious pregnancy D011251||infectious pregnancy complication D011251||infectious pregnancy complications D011251||pregnancies infectious complications D011251||pregnancy complication infectious D011251||pregnancy infectious complications D011254||pregnancy in diabetics D011254||pregnancy in diabete D011254||pregnancy in diabetes D011254||pregnancy in diabetic D012585||sciatica D012585||bilateral sciatica D012585||bilateral sciaticas D012585||neuralgia sciatic D012585||neuralgias sciatic D012585||sciatica bilateral D012585||sciatic neuralgia D012585||sciatic neuralgias C564621|607131||macrocephaly with multiple epiphyseal dysplasia and distinctive facies C564621|607131||mmedf C537915|200700||chondrodysplasia grebe type C537915|200700||achondrogenesis brazilian C537915|200700||achondrogenesis type ii formerly C537915|200700||acromesomelic dysplasia grebe type C537915|200700||amdg C537915|200700||brazilian achondrogenesis C537915|200700||grebe chondrodysplasia C537915|200700||grebe dysplasia C537915|200700||grebe syndrome 610504|C563032||preterm premature rupture of the membranes 610504|C563032||pprom 611031|C567026||episodic kinesigenic dyskinesia 2 611031|C567026||dystonia 19 611031|C567026||dyt19 611031|C567026||ekd2 D011269||pregnancy abdominal D011269||abdominal pregnancies D011269||abdominal pregnancy D011269||pregnancies abdominal 187300|D013683||telangiectasia hereditary hemorrhagic 187300|D013683||disease osler apos s 187300|D013683||hemorrhagic telangiectasia hereditary 187300|D013683||hereditary hemorrhagic telangiectasia 187300|D013683||hht 187300|D013683||hht1 included 187300|D013683||orw disease telangiectasia hereditary hemorrhagic type 1 included 187300|D013683||osler disease 187300|D013683||osler rendu disease 187300|D013683||osler rendu weber disease 187300|D013683||osler apos s disease 187300|D013683||osler weber rendu syndrome 187300|D013683||rendu osler weber 187300|D013683||telangiectasia hereditary hemorrhagic of rendu osler and weber 187300|D013683||telangiectasia hereditary hemorrhagic type 1 187300|D013683||weber osler D012593||sclerema neonatorum D012594||scleroderma localized D012594||circumscribed scleroderma D012594||dermatosclerosis D012594||frontal linear scleroderma en coup de sabre D012594||linear scleroderma D012594||localized scleroderma D012594||morphea D012594||morpheas D012594||scleroderma circumscribed D012594||scleroderma linear D012594||sclerodermas localized D012592||scleredema adultorum D012592||buschke scleredema D012592||buschke scleredema adultorum D012592||buschke scleredema diabeticorum D012592||buschke apos s scleredema D012592||buschkes scleredema D012592||diabeticorum scleredema D012592||diabeticorums scleredema D012592||scleredema D012592||scleredema adultorum of buschke D012592||scleredema buschke apos s D012592||scleredema diabeticorum D012592||scleredema diabeticorum of buschke D012592||scleredema diabeticorums D012592||scleredemas D012598||sclerosis D012598||scleroses D012595||scleroderma systemic D012595||sclerosis systemic D012595||systemic scleroderma D012595||systemic sclerosis C536390|222448||donnai barrow syndrome C536390|222448||dbs foar syndrome C536390|222448||diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia and sensorineural deafness C536390|222448||diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria C536390|222448||diaphragmatic hernia exomphalos corpus callosum agenesis C536390|222448||diaphragmatic hernia exomphalos hypertelorism syndrome C536390|222448||faciooculoacousticorenal syndrome C536390|222448||facio oculo acoustico renal syndrome C536390|222448||foar syndrome 609040|C563808||arrhythmogenic right ventricular dysplasia familial 9 609040|C563808||arrhythmogenic right ventricular cardiomyopathy 9 609040|C563808||arvc9 609040|C563808||arvd9 C566447|610092||microphthalmia isolated with coloboma 3 C566447|610092||mcopcb3 C566447|610092||microphthalmia colobomatous isolated 3 C566447|610092||microphthalmia colobomatous isolated 3 microphthalmia cataracts and iris abnormalities included C566980|136630||mental retardation fra12a type C565510|236270||homocystinuria megaloblastic anemia due to defect in cobalamin metabolism cble complementation type C565510|236270||hmae C565510|236270||homocystinuria megaloblastic anemia cble complementation type C565510|236270||methylcobalamin deficiency cble type C565510|236270||vitamin b12 responsive homocystinuria cble type D013899||thoracic neoplasms D013899||neoplasms thoracic D013899||neoplasm thoracic D013899||thoracic neoplasm D011236||prediabetic state D011236||prediabetes D011236||prediabetic states D011236||state prediabetic D011236||states prediabetic D012569||schizotypal personality disorder D012569||borderline schizophrenia D012569||borderline schizophrenias D012569||disorder schizotypal personality D012569||disorders schizotypal personality D012569||incipient schizophrenia D012569||incipient schizophrenias D012569||latent schizophrenia D012569||latent schizophrenias D012569||personality disorder schizotypal D012569||personality disorders schizotypal D012569||pseudoneurotic schizophrenia D012569||pseudoneurotic schizophrenias D012569||pseudopsychopathic schizophrenia D012569||pseudopsychopathic schizophrenias D012569||schizophrenia borderline D012569||schizophrenia incipient D012569||schizophrenia latent D012569||schizophrenia pseudoneurotic D012569||schizophrenia pseudopsychopathic D012569||schizophrenias borderline D012569||schizophrenias incipient D012569||schizophrenias latent D012569||schizophrenias pseudoneurotic D012569||schizophrenias pseudopsychopathic D012569||schizotypal personality disorders D013898||thoracic injuries D013898||chest injuries D013898||chest injury D013898||injuries chest D013898||injuries thoracic D013898||injury chest D013898||injury thoracic D013898||thoracic injury 192600|C566005||cardiomyopathy familial hypertrophic 1 192600|C566005||ash 192600|C566005|D002312||asymmetric septal hypertrophy 192600|C566005||cmh 192600|C566005||cmh1 192600|C566005|D024741||hypertrophic subaortic stenosis idiopathic 192600|C566005|D024741||ventricular hypertrophy hereditary C566591|133200||erythrokeratodermia progressive symmetric C566591|133200||ekv C566591|133200||ekvp C566591|133200|C536154||erythrokeratodermia figurata congenital familial in plaques C566591|133200|D056266||erythrokeratodermia variabilis C566591|133200||erythrokeratodermia variabilis et progressiva C566591|133200||erythrokeratodermia variabilis with erythema gyratum repens greither disease included C566591|133200||keratosis palmoplantaris transgrediens et progrediens included C566591|133200||psek D007966|250100||leukodystrophy metachromatic D007966|250100||adult metachromatic leukodystrophies D007966|250100||adult metachromatic leukodystrophy D007966|250100||adult type metachromatic leukodystrophies D007966|250100||adult type metachromatic leukodystrophy D007966|250100||arsa deficiencies D007966|250100||arsa deficiency D007966|250100||arylsulfatase a deficiencies D007966|250100||arylsulfatase a deficiency D007966|250100||arylsulfatase a deficiency disease D007966|250100||cerebral sclerosis diffuse metachromatic form D007966|250100||cerebroside sulfatase deficiencies D007966|250100||cerebroside sulfatase deficiency D007966|250100||cerebroside sulfatase deficiency pseudoarylsulfatase a deficiency included D007966|250100||cerebroside sulphatase deficiency disease D007966|250100||deficiencies arsa D007966|250100||deficiencies arylsulfatase a D007966|250100||deficiencies cerebroside sulfatase D007966|250100||deficiency arsa D007966|250100||deficiency arylsulfatase a D007966|250100||deficiency cerebroside sulfatase D007966|250100||greenfield disease D007966|250100||greenfield apos s disease D007966|250100||infant metachromatic leukodystrophies D007966|250100||infant metachromatic leukodystrophy D007966|250100||infant type metachromatic leukodystrophies D007966|250100||infant type metachromatic leukodystrophy D007966|250100||juvenile metachromatic leukodystrophies D007966|250100||juvenile metachromatic leukodystrophy D007966|250100||juvenile type metachromatic leukodystrophies D007966|250100||juvenile type metachromatic leukodystrophy D007966|250100||leukodystrophies adult metachromatic D007966|250100||leukodystrophies adult type metachromatic D007966|250100||leukodystrophies juvenile metachromatic D007966|250100||leukodystrophies juvenile type metachromatic D007966|250100||leukodystrophies metachromatic D007966|250100||leukodystrophy adult metachromatic D007966|250100||leukodystrophy adult type metachromatic D007966|250100||leukodystrophy juvenile metachromatic D007966|250100||leukodystrophy juvenile type metachromatic D007966|250100||leukodystrophy metachromatic adult D007966|250100||leukodystrophy metachromatic juvenile D007966|250100||leukoencephalopathies metachromatic D007966|250100||leukoencephalopathy metachromatic D007966|250100||lipidosis sulfatide D007966|250100||metachromatic leukodystrophies D007966|250100||metachromatic leukodystrophies adult D007966|250100||metachromatic leukodystrophies adult type D007966|250100||metachromatic leukodystrophies infant D007966|250100||metachromatic leukodystrophies infant type D007966|250100||metachromatic leukodystrophies juvenile D007966|250100||metachromatic leukodystrophies juvenile type D007966|250100||metachromatic leukodystrophy D007966|250100||metachromatic leukodystrophy adult D007966|250100||metachromatic leukodystrophy adult included D007966|250100||metachromatic leukodystrophy adult type D007966|250100||metachromatic leukodystrophy infant D007966|250100||metachromatic leukodystrophy infant type D007966|250100||metachromatic leukodystrophy juvenile D007966|250100||metachromatic leukodystrophy juvenile included D007966|250100||metachromatic leukodystrophy juvenile type D007966|250100||metachromatic leukodystrophy late infantile D007966|250100||metachromatic leukodystrophy late infantile included D007966|250100||metachromatic leukoencephalopathies D007966|250100||metachromatic leukoencephalopathy D007966|250100||mld D007966|250100||sulfatase deficiencies cerebroside D007966|250100||sulfatase deficiency cerebroside D007966|250100||sulfatide lipidosis D012561||schizophrenia childhood D012561||childhood onset schizophrenia D012561||childhood schizophrenia D012561||schizophrenia childhood onset D011230||precancerous conditions D011230||condition precancerous D011230||condition preneoplastic D011230||conditions precancerous D011230||conditions preneoplastic D011230||precancerous condition D011230||preneoplastic condition D011230||preneoplastic conditions D013896||thoracic diseases D013896||diseases thoracic D013896||disease thoracic D013896||thoracic disease D012562||schizophrenia disorganized D012562||disorganized schizophrenia D012562||disorganized schizophrenias D012562||hebephrenic schizophrenia D012562||hebephrenic schizophrenias D012562||schizophrenia hebephrenic D012562||schizophrenias disorganized D012562||schizophrenias hebephrenic D012563||schizophrenia paranoid D012563||delusional disorder D012563||delusional disorders D012563||disorder delusional D012563||disorders delusional D012563||paranoid schizophrenia D012563||paranoid schizophrenias D012563||schizophrenias paranoid C567050|610898||supranuclear palsy progressive 3 C567050|610898||psnp3 C563897|608622||hypertension diastolic resistance to C563740|609311||charcot marie tooth disease type 4h C563740|609311||charcot marie tooth disease autosomal recessive type 4h C563740|609311||charcot marie tooth disease demyelinating autosomal recessive type 4h C563740|609311||charcot marie tooth neuropathy type 4h C563740|609311||cmt4h C567564|612781||isolated growth hormone deficiency type ib C567564|612781||dwarfism of sindh C567564|612781||ighd1b C567564|612781||ighd ib C567419|612098||cardiomyopathy familial hypertrophic 11 C567419|612098||cmh11 D000592||amino acid metabolism inborn errors D000592||amino acid metabolism disorders inborn D000592||amino acid metabolism inborn error D000592||amino acid metabolism inherited disorders D000592||amino acidopathies congenital D000592||amino acidopathies inborn D000592||amino acidopathy congenital D000592||amino acidopathy inborn D000592||congenital amino acidopathies D000592||congenital amino acidopathy D000592||inborn amino acidopathies D000592||inborn amino acidopathy D000592||inborn errors amino acid metabolism D000592||inherited errors of amino acid metabolism C563906|608569||cardiomyopathy dilated 1o C563906|608569||cardiomyopathy dilated with ventricular tachycardia C563906|608569||cmd1o D043604||glomus tympanicum tumor D043604||glomus tympanicum tumors D043604||tumor glomus tympanicum D043604||tumors glomus tympanicum D011249||pregnancy complications cardiovascular D011249||cardiovascular pregnancy complication D011249||cardiovascular pregnancy complications D011249||complication cardiovascular pregnancy D011249||complications cardiovascular pregnancy D011249||pregnancies cardiovascular complications D011249||pregnancy cardiovascular complications D011249||pregnancy complication cardiovascular C565195|610706||deafness congenital with inner ear agenesis microtia and microdontia C565195|610706||deafness congenital with labyrinthine aplasia microtia and microdontia C565195|610706|C580009||deafness with lamm D011248||pregnancy complications D011248||complication pregnancy D011248||complications pregnancy D011248||pregnancy complication D011561|177850||pseudoxanthoma elasticum D011561|177850||elasticum incomplete pseudoxanthoma D011561|177850||elasticums incomplete pseudoxanthoma D011561|177850||groenblad strandberg syndrome D011561|177850||gronblad strandberg syndrome D011561|177850||gronblad strandberg syndrome pseudoxanthoma elasticum modifier of severity of included D011561|177850||incomplete pseudoxanthoma elasticum D011561|177850||incomplete pseudoxanthoma elasticums D011561|177850||pseudoxanthoma elasticum autosomal dominant D011561|177850||pseudoxanthoma elasticum forme fruste D011561|177850||pseudoxanthoma elasticum heterozygous included D011561|177850||pseudoxanthoma elasticum incomplete D011561|177850||pseudoxanthoma elasticums incomplete D011561|177850||pxe D011561|177850||pxe modifier of severity of included D011561|177850||syndrome gronblad strandberg D056912||binge eating disorder D056912||binge eating disorders D056912||disorder binge eating D056912||disorders binge eating C563758|609259||myopia 10 C563758|609259||myp10 D019280|113620||branchio oto renal syndrome D019280|113620||bofs D019280|113620||bof syndrome D019280|113620||bor1 D019280|113620||bor2 D019280|113620||bor syndrome D019280|113620||branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging D019280|113620||branchiooculofacial syndrome D019280|113620||branchio oculo facial syndrome D019280|113620||branchiootorenal dysplasia D019280|113620||branchio otorenal dysplasia D019280|113620||branchio otorenal syndrome D019280|113620||branchiootorenal syndrome 1 D019280|113620||branchiootorenal syndrome 2 D019280|113620||dysplasia branchiootorenal D019280|113620||hemangiomatous branchial clefts lip pseudocleft syndrome D019280|113620||lee root fenske syndrome D019280|113620||lip pseudocleft hemangiomatous branchial cyst syndrome D019280|113620||melnick fraser syndrome D019280|113620||syndrome bof D019280|113620||syndrome bor D019280|113620||syndrome branchiooculofacial D019280|113620||syndrome branchio oculo facial D019280|113620||syndrome branchio oto renal D019280|113620||syndrome melnick fraser 214150|C562434||cerebrooculofacioskeletal syndrome 1 214150|C562434||cofs 214150|C562434||cofs1 214150|C562434||cofs syndrome 214150|C562434||pena shokeir syndrome type ii 160800|255300|D009224||myotonia congenita autosomal dominant 160800||thomsen disease thd myotonia levior included 303900||colorblindness partial protan series 303900||cbp 303900||protanopia 303900||red colorblindness protanomaly included D000568||amenorrhea D000568||amenorrhea postpartum D000568||postpartum amenorrhea D000568||postpartum amenorrheas D001899||borrelia infections D001899||borrelia infection D001899||infection borrelia D001899||infections borrelia D000567||amelogenesis imperfecta D000567||congenital enamel hypoplasia C536128|216900||achromatopsia 2 C536128|216900||achm2 C536128|216900||colorblindness total C536128|216900||rmch2 C536128|216900||rod monochromacy 2 C536128|216900||rod monochromatism 2 C536128|216900||total color blindness C535771||dandy walker malformation postaxial polydactyly C535771||dandy walker malformation with postaxial polydactyly C535771||dwm with postaxial polydactyly C564528|300355||mental retardation x linked 73 C564528|300355||mrx73 C535770||daish hardman lamont syndrome C535770||hydrocephalus tall stature joint laxity and kyphoscoliosis C535772||dandy walker variant C572568|610984||complement factor i deficiency C572568|610984||c3 inactivator deficiency C572568|610984||cfid C572568|610984||complement component 3 inactivator deficiency D001890||borna disease C536131|603194||meckel syndrome type 2 C536131|603194||meckel gruber syndrome type 2 C536131|603194||mks2 D000564||ameloblastoma D000564||ameloblastomas D025861||blood coagulation disorders inherited D025861||coagulation disorder hereditary D025861||coagulation disorder inherited D025861||coagulation disorders hereditary D025861||coagulation disorders inherited D025861||hereditary blood coagulation disorders D025861||hereditary coagulation disorder D025861||hereditary coagulation disorders D025861||inherited blood coagulation disorders D025861||inherited coagulation disorder D025861||inherited coagulation disorders D000562||amebiasis D000562||abscess amebic D000562||abscesses amebic D000562||amebiases D000562||amebic abscess D000562||amebic abscesses D000562||ameboma D000562||amebomas D000562||amoebiases D000562||amoebiasis D000562||iodamoebiases D000562||iodamoebiasis D011213||poxviridae infections D011213||infection poxviridae D011213||infection poxvirus D011213||infections poxviridae D011213||infections poxvirus D011213||milker nodes D011213||milker apos s node D011213||milker apos s nodes D011213||milkers nodes D011213||node milker apos s D011213||nodes milker apos s D011213||poxviridae infection D011213||poxvirus infection D011213||poxvirus infections 607174|C537443||meningioma familial 607174|C537443||familial meningioma 607174|C537443||meningioma familial susceptibility to C537182|603829||paroxysmal ventricular fibrillation C537182|603829||idiopathic ventricular fibrillation C537182|603829||paroxysmal familial ventricular fibrillation C537182|603829||ventricular fibrillation during myocardial infarction susceptibility to C537182|603829||ventricular fibrillation paroxysmal familial C537182|603829|C567851||ventricular fibrillation paroxysmal familial 1 C537182|603829|C567841||ventricular fibrillation paroxysmal familial 2 C537182|603829||vf1 C537182|603829||vf2 C535763||euhidrotic ectodermal dysplasia C535763||kopysc barczyk krol syndrome C535763||pilodental dysplasia with refractive errors C535763||trichodental dysplasia with hyperopia 600510|C563184||glaucoma related pigment dispersion syndrome 600510|C563184||glaucoma pigment dispersion type 600510|C563184||gpds1 600510|C563184|C536648|274600||pds 600510|C563184||pigment dispersion syndrome C535766||czech dysplasia metatarsal type C535766||czech dysplasia C535766||progressive pseudorheumatoid dysplasia with hypoplastic toes C535766||pseudorheumatoid dysplasia progressive with hypoplastic toes C535766||spondyloarthropathy with short third and fourth toes C535396|108720||atelosteogenesis type 1 C535396|108720||ao1 C535396|108720||aoi C535396|108720||atelosteogenesis type i C535396|108720||giant cell chondrodysplasia C535396|108720||spondylohumerofemoral hypoplasia C538157|186580||synovitis granulomatous with uveitis and cranial neuropathies C538157|186580||acug C538157|186580||arthrocutaneouveal granulomatosis C538157|186580||blau syndrome C538157|186580||early onset sarcoidosis C538157|186580||familial granulomatosis blau type C538157|186580||familial juvenile systemic granulomatosis C538157|186580||granulomatosis familial blau type C538157|186580||granulomatosis familial blau type synovitis granulomatous with uveitis and cranial neuropathies included C538157|186580||granulomatosis familial juvenile systemic C538157|186580||granulomatous inflammatory arthritis dermatitis and uveitis familial C538157|186580||jabs syndrome C538157|186580||pediatric granulomatous arthritis C535768||daentl towsend siegel syndrome C535768||familial nephrosis hydrocephalus thin skin blue sclerae syndrome C535768||hydrocephalus blue sclera nephropathy C535767||d glycericacidemia C535767||d glycerate kinase deficiency C535767||d glyceric acidemia C535767||glycerate kinase deficiency C535767||non ketotic hyperglycinemia syndrome D012541||scarlet fever D012541||fever scarlet D012541||fevers scarlet D012541||scarlet fevers C535769||dahlberg borer newcomer syndrome C535769||hypoparathyroidism lymphedema syndrome C535769||lymphedema hypoparathyroidism syndrome C567400|612201||atrial fibrillation familial 6 C567400|612201||atfb6 C535782||spondyloenchondrodysplasia C535782||spondyloenchondromatosis C535782||spondylometaphyseal dysplasia with enchondromatous changes C535781||spondylocostal dysostosis autosomal recessive C535781||autosomal recessive spondylocostal dysostosis C535781|608681||spondylocostal dysostosis 2 autosomal recessive C535781|609813||spondylocostal dysostosis 3 autosomal recessive C535784||spondyloepimetaphyseal dysplasia with multiple dislocations C535784||spondyloepimetaphyseal dysplasia with multiple dislocations hall type C535784||spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type C535783||spondyloepimetaphyseal dysplasia with hypotrichosis C535783||whyte petersen mcalister syndrome C535783||whyte syndrome D012557||schizoid personality disorder D012557||disorder schizoid personality D012557||disorders schizoid personality D012557||personalities schizoid D012557||personality disorder schizoid D012557||personality disorders schizoid D012557||personality schizoid D012557||schizoid personalities D012557||schizoid personality D012557||schizoid personality disorders C565634|221820||gliosis familial progressive subcortical C565634|221820||dementia familial neumann type C565634|221820||gpsc C565634|221820||hdls C565634|221820||leukoencephalopathy diffuse hereditary with spheroids C565634|221820||leukoencephalopathy with neuroaxonal spheroids autosomal dominant C565634|221820||subcortical gliosis of neumann C041229||bot heavy chain disease protein human D011227||pre excitation mahaim type D011227||mahaim type preexcitation D011227||mahaim type pre excitation D011227||mahaim type pre excitation nodofascicular D011227||mahaim type pre excitation nodoventricular D011227||nodofascicular mahaim type pre excitation D011227||nodoventricular mahaim type pre excitation D011227||preexcitation mahaim type D011227||pre excitation nodofascicular mahaim type D011227||pre excitation nodoventricular mahaim type C563679|610353||epilepsy nocturnal frontal lobe type 4 C563679|610353||enfl4 C563679|610353||epilepsy familial with nocturnal wandering and ictal fear C563679|610353||epilepsy nocturnal frontal lobe 4 D011226||pre excitation syndromes D011226||preexcitation syndrome D011226||pre excitation syndrome D011226||preexcitation syndromes C563929|608443||mental retardation autosomal recessive 3 C563929|608443||mrt3 C535775||pierre robin sequence with pectus excavatum and rib and scapular anomalies C535775||campomelic dysplasia mild C535774||piepkorn karp hickok syndrome C535777||split hand foot deformity D012553||schistosomiasis haematobia D012553||schistosomiases urinary D012553||schistosomiases urogenital D012553||schistosomiasis haematobium D012553||schistosomiasis urinary D012553||schistosomiasis urogenital D012553||urinary schistosomiases D012553||urinary schistosomiasis D012553||urogenital schistosomiases D012553||urogenital schistosomiasis C535779||spondylocamptodactyly C535779||camptodactyly with cervical platyspondyly C535779||spondylo camptodactyly syndrome D012554||schistosomiasis japonica D012554||schistosomiasis japonicum D012552||schistosomiasis D012552||bilharziases D012552||bilharziasis D012552||fever katayama D012552||katayama fever D012552||schistosomiases 133239|D004938||esophageal neoplasms 133239|D004938||aerodigestive tract cancer susceptibility to included 133239|D004938||cancer esophageal 133239|D004938||cancer esophagus 133239|D004938||cancer of esophagus 133239|D004938||cancer of the esophagus 133239|D004938||cancers esophageal 133239|D004938||cancers esophagus 133239|D004938||escc susceptibility to included 133239|D004938||esophageal cancer 133239|D004938||esophageal cancers 133239|D004938||esophageal neoplasm 133239|D004938||esophageal squamous cell carcinoma susceptibility to included 133239|D004938||esophagus cancer 133239|D004938||esophagus cancers 133239|D004938||esophagus neoplasm 133239|D004938||esophagus neoplasms 133239|D004938||gastric cardia adenocarcinoma susceptibility to included 133239|D004938||neoplasm esophageal 133239|D004938||neoplasm esophagus 133239|D004938||neoplasms esophageal 133239|D004938||neoplasms esophagus C535791||spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism C535791||smd with bowed forearms and facial dysmorphism C535790||spondylohypoplasia arthrogryposis and popliteal pterygium C535793||spondylometaphyseal dysplasia apos corner fracture apos type C535793||spondylometaphyseal dysplasia corner fracture type C535793||spondylometaphyseal dysplasia sutcliffe type C566541|602477||febrile convulsions familial 2 C566541|602477||convulsions familial febrile 2 C566541|602477||feb2 C566541|602477||febrile seizures familial 2 C566541|602477||seizures familial febrile 2 D003410|123450||cri du chat syndrome D003410|123450||5p deletion syndrome D003410|123450||5p deletion syndromes D003410|123450||5p minus syndrome D003410|123450||5p minus syndromes D003410|123450||5p syndrome D003410|123450||5p syndrome chromosome D003410|123450||5p syndromes D003410|123450||5p syndromes chromosome D003410|123450||cat cry syndrome D003410|123450||cat cry syndromes D003410|123450||chromosome 5p deletion syndrome D003410|123450|C537648||chromosome 5p syndrome D003410|123450||chromosome 5p syndromes D003410|123450||chromosome 5 short arm deletion syndrome D003410|123450||cri du chat syndromes D003410|123450||crying cat syndrome D003410|123450||crying cat syndromes D003410|123450||deletion of short arm of chromosome 5 syndrome D003410|123450||deletion syndrome 5p D003410|123450||deletion syndromes 5p D003410|123450||minus syndrome 5p D003410|123450||minus syndromes 5p D003410|123450||syndrome 5p D003410|123450||syndrome 5p deletion D003410|123450||syndrome 5p minus D003410|123450||syndrome cat cry D003410|123450||syndrome chromosome 5p D003410|123450||syndrome cri du chat D003410|123450||syndrome crying cat D003410|123450||syndromes 5p D003410|123450||syndromes 5p deletion D003410|123450||syndromes 5p minus D003410|123450||syndromes cat cry D003410|123450||syndromes chromosome 5p D003410|123450||syndromes cri du chat D003410|123450||syndromes crying cat C535792||spondylometaphyseal dysplasia with dentinogenesis imperfecta C535792||odontochondrodysplasia C535795||spondylometaphyseal dysplasia axial C535795||axial smd C535795||smd axial C535794||spondylometaphyseal dysplasia algerian type C535794||spondylometaphyseal dysplasia schmidt type C535794||spondylometaphyseal dysplasia with severe genu valgum D006211|234200||pantothenate kinase associated neurodegeneration D006211|234200||degeneration pigmentary pallidal D006211|234200||dystrophies juvenile onset neuroaxonal D006211|234200||dystrophy juvenile onset neuroaxonal D006211|234200||hallervorden spatz disease D006211|234200||hallervorden spatz syndrome D006211|234200||juvenile onset neuroaxonal dystrophies D006211|234200||juvenile onset neuroaxonal dystrophy D006211|234200||nbia1 D006211|234200||neuroaxonal dystrophies juvenile onset D006211|234200||neuroaxonal dystrophy juvenile onset D006211|234200||neurodegeneration pantothenate kinase associated D006211|234200||neurodegeneration with brain iron accumulation 1 D006211|234200||neurodegeneration with brain iron accumulation type 1 D006211|234200||pallidal atrophy pigmentary D006211|234200||pigmentary pallidal atrophy D006211|234200||pigmentary pallidal degeneration D006211|234200||pkan D006211|234200||pkan neuroaxonal dystrophy juvenile onset D000542||alveolitis extrinsic allergic D000542||allergic alveolitides extrinsic D000542||allergic alveolitis extrinsic D000542||alveolitides extrinsic allergic D000542||extrinsic allergic alveolitides D000542||extrinsic allergic alveolitis D000542||hypersensitivity pneumonitides D000542||hypersensitivity pneumonitis D000542||pneumonitides hypersensitivity D000542||pneumonitis hypersensitivity 167800|C537262||hereditary pancreatitis 167800|C537262||autosomal dominant hereditary pancreatitis 167800|C537262||familial pancreatitis 167800|C537262||hereditary chronic pancreatitis 167800|C537262||hp 167800|C537262||hpc 167800|C537262||pancreatitis calcific included 167800|C537262||pancreatitis chronic pancreatitis chronic susceptibility to included 167800|C537262||pancreatitis chronic protection against included 167800|C537262||pancreatitis hereditary 167800|C537262||pctt D012523||sarcocystosis D012523||sarcocystoses D012523||sarcosporidioses D012523||sarcosporidiosis D055613||multiple pulmonary nodules D055613||multiple pulmonary nodule D055613||pulmonary nodule multiple D055613||pulmonary nodules multiple C535786||spondyloepimetaphyseal dysplasia sponastrime type C535786||sponastrime dysplasia C535786||spondylar and nasal alterations with striated metaphyses C535785||spondyloepimetaphyseal dysplasia genevieve type C535785||semd genevieve type C535787||spondyloepiphyseal dysplasia tarda toledo type C535787||brachyolmia toledo type C535787||brachyolmia type 1 toledo type C535787||paps chondroitin sulfate sulfotransferase deficiency C535787||sed chondroitin sulfate type C535787||spondyloepiphyseal dysplasia chondroitin sulfate type C535787||toledo type brachyolmia D013851||thinness D013851||leanness D013851||underweight C535789|143095||spondyloepiphyseal dysplasia omani type C535789|143095||chondrodysplasia with multiple dislocations C535789||chst3 related skeletal dysplasia C535789|143095||humerospinal dysostosis C535789||humero spinal dysostosis C535789||humero spinal dysostosis with congenital heart disease C535789||kozlowski celermajer tink syndrome C535789||omani type of spondyloepiphyseal dysplasia C535789||sed omani type C535789||sed with luxations chst3 type C535789||spondyloepiphyseal dysplasia chst3 related C535789|143095||spondyloepiphyseal dysplasia with congenital joint dislocations D008059|607014||mucopolysaccharidosis i D008059|607014||alpha l iduronidase deficiencies D008059|607014||alpha l iduronidase deficiency D008059|607014||deficiencies alpha l iduronidase D008059|607014||deficiency alpha l iduronidase D008059|607014||disease hurler D008059|607014||disease hurler apos s D008059|607014||gargoylism D008059|607014||gargoylism hurler syndrome D008059|607014||gargoylisms D008059|607014||hurler disease D008059|607014||hurler scheie syndrome D008059|607014||hurler apos s disease D008059|607014||hurlers disease D008059|607014||hurler apos s syndrome D008059|607014||hurlers syndrome D008059|607014||hurler syndrome D008059|607014||hurler syndrome gargoylism D008059|607014||lipochondrodystrophies D008059|607014||lipochondrodystrophy D008059|607014||mps1 h D008059|607014||mps1 hs D008059|607014||mps1 s D008059|607014||mps5 formerly D008059|607014||mps v formerly D008059|607014||mucopolysaccharidosis 1 D008059|607014||mucopolysaccharidosis 5 D008059|607014||mucopolysaccharidosis is D008059|607014||mucopolysaccharidosis i s D008059|607014||mucopolysaccharidosis type i D008059|607014||mucopolysaccharidosis type ih D008059|607014||mucopolysaccharidosis type ihs D008059|607014||mucopolysaccharidosis type ih s D008059|607014||mucopolysaccharidosis type ih ss D008059|607014||mucopolysaccharidosis type is D008059|607014||mucopolysaccharidosis type v formerly D008059|607014||mucopolysaccharidosis v D008059|607014||pfaundler hurler syndrome D008059|607014||scheie apos s syndrome D008059|607014||scheie syndrome D008059|607014||syndrome hurler D008059|607014||syndrome hurler apos s D008059|607014||syndrome hurler scheie D008059|607014||syndrome pfaundler hurler D008059|607014||syndrome scheie D008059|607014||syndrome scheie apos s D008059|607014||type ih mucopolysaccharidosis D008059|607014||type ihs mucopolysaccharidosis D008059|607014||type ih s mucopolysaccharidosis D008059|607014||type ih ss mucopolysaccharidosis D001885||bordetella infections D001885||bordetella infection D001885||infection bordetella D001885||infections bordetella C538353|608390||potassium aggravated myotonia C538353|608390||myotonia congenita acetazolamide responsive C538353|608390||myotonia congenita atypical C538353|608390||myotonia congenita atypical laryngospasm severe neonatal episodic included C538353|608390||myotonia permanens C538353|608390||myotonia potassium aggravated C538353|608390||snel included C538353|608390|D020513|170500||sodium channel muscle disease C538353|608390||sodium channel myotonia D001883||borderline personality disorder D001883||borderline personality disorders D001883||disorder borderline personality D001883||disorders borderline personality D001883||personality disorder borderline D001883||personality disorders borderline D001882||border disease D001882||border diseases D000550||amblyopia D000550||amblyopia anisometropic D000550||amblyopia developmental D000550||amblyopias D000550||amblyopias anisometropic D000550||amblyopias developmental D000550||amblyopias stimulus deprivation induced D000550||amblyopias suppression D000550||amblyopia stimulus deprivation induced D000550||amblyopia suppression D000550||anisometropic amblyopia D000550||anisometropic amblyopias D000550||deprivation induced amblyopias stimulus D000550||deprivation induced amblyopia stimulus D000550||developmental amblyopia D000550||developmental amblyopias D000550||eye lazy D000550||eyes lazy D000550||lazy eye D000550||lazy eyes D000550||stimulus deprivation induced amblyopia D000550||stimulus deprivation induced amblyopias D000550||suppression amblyopia D000550||suppression amblyopias C567733|613122||cardiomyopathy dilated 1cc C567733|613122||cmd1cc D012536||scalp dermatoses D012536||dermatoses scalp D012536||dermatosis scalp D012536||scalp dermatosis C565276|605909||parkinson disease 6 autosomal recessive early onset C565276|605909||park6 C565276|605909||parkinson disease 6 early onset C565276|605909||parkinson disease 6 early onset park6 parkinson disease 6 late onset susceptibility to included C565276|605909||parkinson disease autosomal recessive early onset digenic pink1 dj1 C565276|605909||parkinson disease autosomal recessive early onset digenic pink1 dj1 included 146520||hypotrichosis 2 146520||htss 146520||htss1 146520||hypotrichosis simplex of the scalp 1 146520|C564143||hypotrichosis spanish type 146520||hypt2 241800|C537158||hypothalamic hamartomas 241800|C537158||chhs included 241800|C537158||congenital hypothalamic hamartoma syndrome 241800|C537158||congenital hypothalamic hamartoma syndrome included 241800|C537158||hamartoma of the hypothalamus C535796||spondylometaphyseal dysplasia east african type C535799||spondyloperipheral dysplasia short ulna C535799||familial spondyloepiphyseal dysplasia C535799|271700||spondyloperipheral dysplasia C535799|271700||spondyloperipheral dysplasia with short ulna C535798||spondylometaphyseal dysplasia sedaghatian type C535798||lethal metaphyseal dysplasia C535798||metaphyseal chondrodysplasia congenital lethal C535798||sedaghatian chondrodysplasia 194190|D054877||wolf hirschhorn syndrome 194190|D054877||4p deletion syndrome 194190|D054877||4p syndrome 194190|D054877||4p syndrome chromosome 194190|D054877||4p syndromes chromosome 194190|D054877||chromosome 4p16 3 deletion syndrome 194190|D054877||chromosome 4p deletion syndrome 194190|D054877||chromosome 4p monosomy 194190|D054877||chromosome 4p syndrome 194190|D054877||chromosome 4p syndromes 194190|D054877||del 4p syndrome 194190|D054877||mental retardation unusual facies and intrauterine growth retardation 194190|D054877||partial monosomy 4p 194190|D054877||pitt rogers danks syndrome 194190|D054877||pitt syndrome 194190|D054877||pitt syndromes 194190|D054877||prds 194190|D054877||syndrome chromosome 4p 194190|D054877||syndrome pitt 194190|D054877||syndrome pitt rogers danks 194190|D054877||syndromes chromosome 4p 194190|D054877||syndromes pitt 194190|D054877||syndrome wolf 194190|D054877||syndrome wolf hirchhorn 194190|D054877||syndrome wolf hirschhorn 194190|D054877||whs 194190|D054877||wolf hirchhorn syndrome 194190|D054877||wolf syndrome D012532||scabies D012532||mange sarcoptic D012532||sarcoptic mange D055622||orbital myositis D055622||myositides orbital D055622||myositis orbital D055622||orbital myositides D011201||poultry diseases D011201||disease poultry D011201||diseases poultry D011201||poultry disease D055623||keratosis actinic D055623||actinic keratoses D055623||actinic keratosis D055623||keratoses actinic D001855||bone marrow diseases D001855||bone marrow disease D001855||disease bone marrow D001855||diseases bone marrow D001855||marrow disease bone D001855||marrow diseases bone C564298||bile and pancreatic ducts complete absence of D001859||bone neoplasms D001859||bone cancer D001859||bone neoplasm D001859||cancer of bone D001859||cancer of the bone D001859||neoplasm bone D001859||neoplasms bone D012509||sarcoma D012509||epithelioid sarcoma D012509||epithelioid sarcomas D012509||sarcoma epithelioid D012509||sarcomas D012509||sarcomas epithelioid D012509||sarcoma soft tissue D012509||sarcoma spindle cell D012509||sarcomas soft tissue D012509||sarcomas spindle cell D012509||soft tissue sarcoma D012509||soft tissue sarcomas D012509||spindle cell sarcoma D012509||spindle cell sarcomas D001851||bone diseases metabolic D001851||bone disease metabolic D001851||disease metabolic bone D001851||diseases metabolic bone D001851||metabolic bone disease D001851||metabolic bone diseases D001851||osteopenia D001851||osteopenias D001850||bone diseases infectious D001850||bone disease infectious D001850||disease infectious bone D001850||diseases infectious bone D001850||infectious bone disease D001850||infectious bone diseases C535728||dysautonomia like disorder D037801||hammer toe syndrome D037801||clawtoe D037801||claw toe D037801||clawtoes D037801||claw toes D037801||hammer toe D037801||hammer toes D037801||hammertoe syndrome D037801||hammertoe syndromes D037801||mallet toe D037801||mallet toes D037801||syndrome hammertoe D037801||syndrome hammer toe D037801||syndromes hammertoe D037801||toe claw D037801||toe hammer D037801||toe mallet D037801||toes claw D037801||toes hammer D037801||toes mallet C535727||dykes markes harper syndrome C535727||ichthyosis hepatosplenomegaly and cerebellar degeneration C535727||ichthyosis hepatosplenomegaly cerebellar degeneration D013832||thiamine deficiency D013832||deficiencies thiamine D013832||deficiency thiamine D013832||thiamine deficiencies 131760|D016110||epidermolysis bullosa simplex 131760|D016110||acral form ebs 131760|D016110||acral form ebss 131760|D016110||bullosa simplices epidermolysis 131760|D016110||ebs acral form 131760|D016110||ebs dm 131760|D016110||ebs generalized 131760|D016110||ebss acral form 131760|D016110||ebss generalized 131760|D016110||epidermolysis bullosa herpetiformis dowling meara 131760|D016110||epidermolysis bullosa herpetiformis dowling meara type 131760|D016110||epidermolysis bullosa of hands and feet 131760|D016110||epidermolysis bullosa simplex cockayne touraine type 131760|D016110||epidermolysis bullosa simplex dowling meara type 131760|D016110||epidermolysis bullosa simplex generalized 131760|D016110||epidermolysis bullosa simplex kobner 131760|D016110||epidermolysis bullosa simplex koebner type 131760|D016110||epidermolysis bullosa simplex localized 131760|D016110||epidermolysis bullosa simplex weber cockayne type 131760|D016110||epidermolysis bullosa simplices 131760|D016110||generalized ebs 131760|D016110||generalized ebss 131760|D016110||weber cockayne syndrome 131760|D016110||weber cockayne type epidermolysis bullosa simplex 193000|D014718||vesico ureteral reflux 193000|D014718||reflux vesicoureteral 193000|D014718||reflux vesico ureteral 193000|D014718||vesicoureteral reflux 193000|D014718||vesicoureteral reflux 1 193000|D014718||vur 193000|D014718||vur1 C535720||familial duodenal atresia C535720||duodenal atresia C535720||duodenal stenosis C535395|256050||atelosteogenesis type 2 C535395|256050||ao2 C535395|256050||aoii C535395|256050||atelosteogenesis de la chapelle type C535395|256050||atelosteogenesis type ii C535395|256050||de la chapelle dysplasia C535395|256050||dlcd included C535395|256050||mcalister dysplasia C535395|256050||neonatal osseous dysplasia 1 C535395|256050||neonatal osseous dysplasia i C535395|256050||neonatal osseous dysplasia i de la chapelle dysplasia included C535722||duodenojejunal atresia with volvulus absent dorsal mesentery and absent superior mesenteric artery C535722||duodenojejunal atresia volvulus absent dorsal mesentery and absent superior mesenteric artery C535721||duodenal ulcer due to antral g cell hyperfunction C535721||hypergastrinemic hyperpepsinogenemic duodenal ulcer C535724||dwarfism stiff joint ocular abnormalities C535724||dwarfism with stiff joints and ocular abnormalities C535724||moore federman syndrome 607626|C564365||ichthyosis leukocyte vacuoles alopecia and sclerosing cholangitis 607626|C564365||ichthyosis sclerosing cholangitis syndrome 607626|C564365||ilvasc 607626|C564365||neonatal ichthyosis sclerosing cholangitis syndrome 607626|C564365||nisch syndrome C535723||subungual exostoses C535723||dupuytren subungual exostosis C535723||exostosis dupuytren subungual 602400||ichthyosis congenital autosomal recessive 11 602400||arci11 602400||arih 602400||ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis 602400|C536273||ichthyosis with hypotrichosis autosomal recessive 602400||ifah C538263|607941||atrial septal defect 2 C538263|607941||asd2 C535725||dwarfism tall vertebrae C535725||dwarfism with disproportionately high vertebral bodies C535725||dwarfism with tall vertebrae C535725||short stature and tall vertebrae 607225|C537217||hereditary spastic paralysis infantile onset ascending 607225|C537217||iahsp 607225|C537217||infantile onset ascending hereditary spastic paralysis 607225|C537217||spastic paralysis infantile onset ascending C567339|607728|612353||porokeratosis disseminated superficial actinic 4 C567339|607728||dsap2 C567339|607728||porok4 C567339|607728||porokeratosis 4 disseminated superficial actinic type C567339|607728|D017499||porokeratosis disseminated superficial actinic 2 C567838|612964||premature ovarian failure 7 C567838|612964||pof7 C565337|605362||cardiomyopathy dilated 1j C565337|605362||cardiomyopathy dilated with sensorineural hearing loss autosomal dominant C565337|605362||cmd1j D000532||altitude sickness D000532||altitude sicknesses D000532||mountain sickness D000532||mountain sicknesses D000532||sickness altitude D000532||sicknesses altitude D000532||sicknesses mountain D000532||sickness mountain D054319||marchiafava bignami disease D054319||marchiafava bignami syndrome C538380|238970||hhh syndrome C538380|238970||hhh C538380|238970||hhhs C538380|238970||hyperornithinemia hyperammonemia homocitrullinemia syndrome C538380|238970||hyperornithinemia hyperammonemia homocitrullinuria C538380|238970||hyperornithinemia hyperammonemia homocitrullinuria syndrome C538380|238970||ornithine translocase deficiency C538380|238970||triple h syndrome D001862||bone resorption D001862||bone losses osteoclastic D001862||bone loss osteoclastic D001862||bone resorptions D001862||losses osteoclastic bone D001862||loss osteoclastic bone D001862||osteoclastic bone loss D001862||osteoclastic bone losses D001862||resorption bone D001862||resorptions bone D012513||sarcoma experimental D012513||ehs tumor D012513||engelbreth holm swarm sarcoma D012513||experimental sarcoma D012513||experimental sarcomas D012513||jensen sarcoma D012513||sarcoma engelbreth holm swarm D012513||sarcoma jensen D012513||sarcomas experimental D012513||tumor ehs C535738||erythrokeratodermia with ataxia C535738||erythrokeratodermia ataxia C535738||giroux barbeau syndrome D012511||sarcoma 37 D009477|256800||hereditary sensory and autonomic neuropathies D009477|256800||acroosteolyses neurogenic D009477|256800|201300||acroosteolysis giaccai type D009477|256800|201300||acroosteolysis neurogenic D009477|256800||cipa D009477|256800||congenital insensitivity to pain with anhidrosis D009477|256800||congenital sensory neuropathies D009477|256800||congenital sensory neuropathy D009477|256800||familial dysautonomia type 2 D009477|256800||familial dysautonomia type ii D009477|256800||giaccai type acroosteolysis D009477|256800||hereditary sensory and autonomic neuropathy 4 D009477|256800||hereditary sensory and autonomic neuropathy iv D009477|256800||hereditary sensory and autonomic neuropathy type 1 D009477|256800||hereditary sensory and autonomic neuropathy type 2 D009477|256800||hereditary sensory and autonomic neuropathy type 4 D009477|256800||hereditary sensory and autonomic neuropathy type 5 D009477|256800||hereditary sensory and autonomic neuropathy type i D009477|256800||hereditary sensory and autonomic neuropathy type ii D009477|256800||hereditary sensory and autonomic neuropathy type iv D009477|256800||hereditary sensory and autonomic neuropathy type v D009477|256800||hereditary sensory autonomic neuropathy type 1 D009477|256800||hereditary sensory autonomic neuropathy type 2 D009477|256800||hereditary sensory autonomic neuropathy type 4 D009477|256800||hereditary sensory autonomic neuropathy type 5 D009477|256800||hereditary sensory neuropathies D009477|256800||hereditary sensory neuropathy D009477|256800||hereditary sensory neuropathy type 1 D009477|256800||hereditary sensory neuropathy type i D009477|256800||hereditary sensory neuropathy type ia D009477|256800||hereditary sensory radicular neuropathy D009477|256800||hereditary sensory radicular neuropathy recessive form D009477|256800||hsan D009477|256800||hsan 1 D009477|256800||hsan2 D009477|256800||hsan4 D009477|256800||hsan 4 D009477|256800||hsan5 D009477|256800||hsan 5 D009477|256800||hsan hereditary sensory autonomic neuropathy D009477|256800||hsan i D009477|256800||hsanii D009477|256800||hsan iv D009477|256800||hsans hereditary sensory autonomic neuropathy D009477|256800||hsan type i D009477|256800||hsan type ii D009477|256800||hsan type iv D009477|256800||hsan type v D009477|256800||hsan v D009477|256800||hsn type i D009477|256800||hsn type ii D009477|256800||hsn type iis D009477|256800|D000699||insensitivity to pain congenital D009477|256800||insensitivity to pain congenital with anhidrosis D009477|256800||insensitivity to pain with anhidrosis congenital D009477|256800||neurogenic acroosteolyses D009477|256800||neurogenic acroosteolysis D009477|256800||neuropathies congenital sensory D009477|256800||neuropathies hereditary sensory D009477|256800||neuropathies hereditary sensory and autonomic D009477|256800|201300||neuropathy congenital sensory D009477|256800||neuropathy congenital sensory with anhidrosis D009477|256800||neuropathy hereditary sensory D009477|256800||neuropathy hereditary sensory and autonomic type 1 D009477|256800||neuropathy hereditary sensory and autonomic type i D009477|256800||neuropathy hereditary sensory and autonomic type v D009477|256800||neuropathy hereditary sensory radicular autosomal dominant D009477|256800|201300||neuropathy hereditary sensory radicular autosomal recessive D009477|256800||neuropathy hereditary sensory type i D009477|256800|201300||neuropathy progressive sensory of children D009477|256800||pain insensitivity with anhidrosis congenital D009477|256800||sensory and autonomic neuropathies hereditary D009477|256800||sensory neuropathies congenital D009477|256800||sensory neuropathies hereditary D009477|256800||sensory neuropathy congenital D009477|256800||sensory neuropathy hereditary D009477|256800||type i hsan D009477|256800||type i hsn D009477|256800||type iv hsan D012517||sarcoma yoshida D012517||reticulum cell like sarcoma yoshida D012517||yoshida sarcoma D012515||mast cell sarcoma D012515||malignant mastocytoma D012515||malignant mastocytomas D012515||mast cell sarcomas D012515||mastocytoma malignant D012515||mastocytomas malignant D012515||sarcoma mast cell D012515||sarcomas mast cell C535730||dyschromatosis universalis hereditaria C535735||congenital lobar emphysema C535735||emphysema congenital lobar D054318||no reflow phenomenon D054318||phenomenon slow flow D054318||slow flow phenomenon D012510||sarcoma 180 D012510||crocker sarcoma 180 D012510||sarcoma 180 crocker C535734||muscular dystrophy tardive emery dreifuss type with contractures C535736||encephalocraniocutaneous lipomatosis C535736||fishman syndrome C564277||immunodeficiency with hyper igm type 4 C564277||hyper igm syndrome 4 D016097||simian acquired immunodeficiency syndrome D016097||aids simian D016097||aidss simian D016097||saids D016097||simian acquired immune deficiency syndrome D016097||simian acquired immuno deficiency syndrome D016097||simian aids D016097||simian aidss D001832||body temperature changes D001832||body temperature change D001832||change body temperature D001832||changes body temperature D001832||temperature change body D001832||temperature changes body D007340|606960||insulinoma D007340|606960||adenoma beta cell D007340|606960||adenomas beta cell D007340|606960||beta cell adenoma D007340|606960||beta cell adenomas D007340|606960||beta cell tumor D007340|606960||beta cell tumors D007340|606960||insulinomas D007340|606960||insulinoma tumor suppressor gene locus D007340|606960||insuloma D007340|606960||insulomas D007340|606960||tumor beta cell D007340|606960||tumors beta cell D000506||alopecia areata D000506||alopecia circumscripta C563875|608691||major depressive disorder 2 C563875|608691||mdd2 C563875|608691||unipolar depression 2 D001836||body weight changes D001836||body weight change D001836||change body weight D001836||changes body weight D001836||weight change body D001836||weight changes body C535751||congenital disorder of glycosylation type 1x D001835||body weight D001835||body weights D001835||weight body D001835||weights body C563534|161400||narcolepsy 1 C563534|161400||narcoleptic syndrome 1 C563534|161400||narcoleptic syndrome 1 cataplexy included C563534|161400||nrclp1 C536603|608553||amaurosis congenita of leber type 9 C536603|608553||lca9 C536603|608553||leber congenital amaurosis 9 C536603|608553||leber congenital amaurosis type 9 D055652||gray platelet syndrome D055652||alpha granule deficiencies platelet D055652||alpha granule deficiency platelet D055652||gray platelet syndromes D055652||grey platelet syndrome D055652||grey platelet syndromes D055652||platelet alpha granule deficiencies D055652||platelet alpha granule deficiency D055652||platelet syndromes grey D055652||syndrome gray platelet D055652||syndrome grey platelet D055652||syndromes gray platelet C565785|604364||epilepsy partial with variable foci C565785|604364||epilepsy familial focal with variable foci C565785|604364||ffevf C565785|604364||fpevf D056988||anterior wall myocardial infarction D056988||acute anterior wall myocardial infarction D056988||anterolateral myocardial infarction D056988||anterolateral myocardial infarctions D056988||anteroseptal myocardial infarction D056988||anteroseptal myocardial infarctions D056988||infarction anterolateral myocardial D056988||infarction anteroseptal myocardial D056988||infarctions anterolateral myocardial D056988||infarctions anteroseptal myocardial D056988||myocardial infarction anterior wall D056988||myocardial infarction anterolateral D056988||myocardial infarction anteroseptal D056988||myocardial infarctions anterolateral D056988||myocardial infarctions anteroseptal D056989||inferior wall myocardial infarction D056989||acute inferior myocardial infarction D056989||diaphragmatic myocardial infarction D056989||diaphragmatic myocardial infarctions D056989||infarction diaphragmatic myocardial D056989||infarction inferior myocardial D056989||infarctions diaphragmatic myocardial D056989||infarctions inferior myocardial D056989||inferior myocardial infarction D056989||inferior myocardial infarctions D056989||myocardial infarction diaphragmatic D056989||myocardial infarction inferior D056989||myocardial infarction inferior wall D056989||myocardial infarctions diaphragmatic D056989||myocardial infarctions inferior C535683|602771||rigid spine syndrome C535683|602771||desmin related myopathies with mallory bodies C535683|602771||desmin related myopathy with mallory bodies C535683|602771||mdrs1 C535683|602771||minicore myopathy severe classic form C535683|602771||multicore myopathy severe classic form C535683|602771||multiminicore disease severe classic form C535683|602771||muscular dystrophy congenital eichsfeld type C535683|602771||muscular dystrophy congenital merosin positive with early spine rigidity C535683|602771||myopathy sepn1 related C535683|602771||rigid spine muscular dystrophy 1 C535683|602771||rsmd1 C535683|602771|D056730|180860||rss D000507||mucinosis follicular D000507||alopecia mucinosa D000507||follicular mucinoses D000507||follicular mucinosis D000507||mucinoses follicular C564285||pseudoxanthoma elasticum modifier of severity of D056986||euglenozoa infections D056986||euglenozoa infection D056986||infection euglenozoa D056986||infections euglenozoa C564283||lipodystrophy generalized with mental retardation deafness short stature and slender bones D056987||vasoplegia D056987||post operative vasoplegic syndrome D056987||postoperative vasoplegic syndrome D056987||post operative vasoplegic syndromes D056987||syndrome post operative vasoplegic D056987||syndromes post operative vasoplegic D056987||vasoplegias D056987||vasoplegic syndrome D056987||vasoplegic syndrome post operative D056987||vasoplegic syndromes post operative C564282||campomelic dysplasia with autosomal sex reversal C564288|612126||dystonia 18 C564288||paroxysmal exercise induced dystonia C564288||paroxysmal exertion induced dyskinesia C563903|608988||atrial fibrillation familial 2 C563903|608988||atfb2 C564286||zinc deficiency neonatal due to low breast milk zinc 261630|D010661|261600||hyperphenylalaninemia bh4 deficient c 261630|D010661|261600||dhpr deficiency 261630|D010661|261600||dihydropteridine reductase deficiency 261630|D010661|261600||hpabh4c 261630|D010661|261600||hyperphenylalaninemia tetrahydrobiopterin deficient due to dhpr deficiency 261630|D010661|261600||qdpr deficiency 261630|D010661|261600||quinoid dihydropteridine reductase deficiency D001848||bone diseases developmental D001848||bone disease developmental D001848||bone dysplasia D001848||bone dysplasias D001848||developmental bone disease D001848||developmental bone diseases D001848||dysplasia bone D001848||dysplasias bone C538246|609924||aminoacylase 1 deficiency C538246|609924||acy1d C538246|609924||deficiency of the aminoacylase 1 enzyme D001847||bone diseases D001847||bone disease D001847||disease bone D001847||diseases bone 183900|C535788||spondyloepiphyseal dysplasia congenita 183900|C535788||sedc 183900|C535788||sed congenita 183900|C535788||sed congenital type 183900|C535788||spondyloepiphyseal dysplasia congenital type C535762||congenital pseudoarthrosis D001845||bone cysts D001845||bone cyst D001845||cyst bone D001845||cysts bone D001845||cyst solitary D001845||cysts solitary D001845||cysts subchondral D001845||cyst subchondral D001845||ganglia intraosseous D001845||ganglia intra osseous D001845||ganglias intraosseous D001845||ganglias intra osseous D001845||ganglion intraosseous D001845||ganglion intra osseous D001845||ganglions intra osseous D001845||intraosseous ganglia D001845||intra osseous ganglia D001845||intraosseous ganglias D001845||intra osseous ganglias D001845||intraosseous ganglion D001845||intra osseous ganglion D001845||intraosseous ganglions D001845||intra osseous ganglions D001845||solitary cyst D001845||solitary cysts D001845||subchondral cyst D001845||subchondral cysts C536163|607654||keratosis palmoplantaris striata 3 C536163|607654||keratoderma palmoplantar striate form 3 C536163|607654||keratoderma palmoplantar striate form iii C536163|607654||keratosis palmoplantaris striata iii C536163|607654||kpps3 C536163|607654||ppks3 C536163|607654||sppk3 C536163|607654||striate palmoplantar keratoderma 3 C536163|607654||striate palmoplantar keratoderma iii C537521|254090||scleroatonic muscular dystrophy C537521|254090||late onset scleroatonic familial myopathy C537521|254090||muscular dystrophy scleroatonic C537521|254090||ucmd C537521|254090||ullrich congenital muscular dystrophy C537521|254090||ullrich disease C537521|254090||ullrich scleroatonic muscular dystrophy D015212|266600||inflammatory bowel diseases D015212|266600||bowel diseases inflammatory D015212|266600||crohn disease associated growth failure susceptibility to included D015212|266600||crohn disease included D015212|266600||ibd1 D015212|266600||inflammatory bowel disease D015212|266600|D003424||inflammatory bowel disease 1 D015212|266600||regional enteritis included D015212|266600||ulcerative colitis included 121201||seizures benign familial neonatal 2 121201||bfnc2 121201||bfns2 121201|C535466||convulsions benign familial neonatal 2 C536277|604288||idiopathic dilation cardiomyopathy C536277|604288||cardiomyopathy dilated 1h C536277|604288||cardiomyopathy dilated with conduction defect C536277|604288||cmd1h C536277|604288||dilated cardiomyopathy with conduction defect 121200||seizures benign familial neonatal 1 121200||bfns1 121200||epilepsy benign neonatal 1 and or myokymia included 121200||seizures benign familial neonatal 1 and or myokymia included D019871|305000||dyskeratosis congenita D019871|305000||cerebellar hypoplasia with pancytopenia included D019871|305000||congenita x linked dyskeratosis D019871|305000||dkcx D019871|305000||dyskeratosis congenita x linked D019871|305000||growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia included D019871|305000||hhs included D019871|305000||syndrome zinsser cole engman D019871|305000||x linked dyskeratosis congenita D019871|305000||x linked dyskeratosis congenitas D019871|305000||zinsser cole engman syndrome D019871|305000||zinsser cole engman syndrome hoyeraal hreidarsson syndrome included D001849||bone diseases endocrine D001849||bone disease endocrine D001849||disease endocrine bone D001849||diseases endocrine bone D001849||endocrine bone disease D001849||endocrine bone diseases C535757||congenital ectodermal dysplasia with hearing loss C535757||mikaelian syndrome C537014|611775||infantile polyarteritis C537014|611775|D009080||kawasaki disease C537014|611775|C537017|313200||kd C537014|611775|D009080||mucocutaneous lymph node syndrome D055665||purpura fulminans D055665||fulminans purpura C536645|169610||pemphigus vulgaris familial C536645|169610||familial pemphigus vulgaris C535758||congenital heart block C535758||congenital complete heart block C535758||familial congenital heart block C535758||heart block congenital C566798||platelet factor 3 deficiency C564135||immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine 1 antagonist 224690|C538012||meier gorlin syndrome 224690|C538012||ear patella short stature syndrome 224690|C538012||eps 224690|C538012||meier gorlin syndrome 1 224690|C538012||meier gorlin syndrome 2 224690|C538012||meier gorlin syndrome 3 224690|C538012||meier gorlin syndrome 4 224690|C538012||meier gorlin syndrome 5 224690|C538012||mgors1 224690|C538012||mgors2 224690|C538012||mgors3 224690|C538012||mgors4 224690|C538012||mgors5 224690|C538012||microtia absent patellae micrognathia syndrome D001932||brain neoplasms D001932||benign brain neoplasm D001932||benign brain neoplasms D001932||benign neoplasm brain D001932||benign neoplasms brain D001932||brain benign neoplasm D001932||brain benign neoplasms D001932||brain cancer D001932||brain cancers D001932||brain malignant neoplasm D001932||brain malignant neoplasms D001932||brain neoplasm D001932||brain neoplasm benign D001932||brain neoplasm malignant D001932||brain neoplasm primary D001932||brain neoplasms benign D001932||brain neoplasms malignant D001932||brain neoplasms malignant primary D001932||brain neoplasms primary D001932||brain neoplasms primary malignant D001932||brain tumor D001932||brain tumor primary D001932||brain tumor recurrent D001932||brain tumors D001932||brain tumors primary D001932||brain tumors recurrent D001932||cancer brain D001932||cancer of brain D001932||cancer of the brain D001932||cancers brain D001932||intracranial neoplasm D001932||intracranial neoplasms D001932||malignant brain neoplasm D001932||malignant brain neoplasms D001932||malignant neoplasm brain D001932||malignant neoplasms brain D001932||malignant primary brain neoplasms D001932||malignant primary brain tumors D001932||neoplasm brain D001932||neoplasm intracranial D001932||neoplasms brain D001932||neoplasms brain benign D001932||neoplasms brain malignant D001932||neoplasms brain primary D001932||neoplasms intracranial D001932||primary brain neoplasm D001932||primary brain neoplasms D001932||primary brain tumor D001932||primary brain tumors D001932||primary malignant brain neoplasms D001932||primary malignant brain tumors D001932||recurrent brain tumor D001932||recurrent brain tumors D001932||tumor brain D001932||tumors brain C536866|600363||spastic paraplegia 6 autosomal dominant C536866|600363||familial spastic paraplegia autosomal dominant 3 C536866|600363||fsp3 C536866|600363||spg6 C565468||immunodeficiency partial combined with absence of hla determinants and beta 2 microglobulin from lymphocytes C566799||platelet disorder undefined 614380|C565167||complement component 4a deficiency 614380||c4ad 614380||c4a deficiency C565469||immune deficiency disease D001930||brain injuries D001930||acute brain injuries D001930||acute brain injury D001930||brain contusion D001930||brain contusions D001930||brain injuries acute D001930||brain injuries diffuse D001930||brain injuries focal D001930||brain injuries traumatic D001930||brain injury D001930||brain injury acute D001930||brain injury diffuse D001930||brain injury focal D001930||brain injury traumatic D001930||brain laceration D001930||brain lacerations D001930||brain trauma D001930||brain traumas D001930||contusion brain D001930||contusion cortical D001930||contusions brain D001930||contusions cortical D001930||cortical contusion D001930||cortical contusions D001930||diffuse brain injuries D001930||diffuse brain injury D001930||encephalopathies post concussive D001930||encephalopathies post traumatic D001930||encephalopathies traumatic D001930||encephalopathy post concussive D001930||encephalopathy post traumatic D001930||encephalopathy traumatic D001930||focal brain injuries D001930||focal brain injury D001930||injuries acute brain D001930||injuries brain D001930||injuries diffuse brain D001930||injuries focal brain D001930||injuries traumatic brain D001930||injury acute brain D001930||injury brain D001930||injury brain traumatic D001930||injury brain traumatic mild D001930||injury diffuse brain D001930||injury focal brain D001930||injury traumatic brain D001930||laceration brain D001930||lacerations brain D001930||mild traumatic brain injury D001930||post concussive encephalopathies D001930||post concussive encephalopathy D001930||post traumatic encephalopathies D001930||post traumatic encephalopathy D001930||tbis traumatic brain injury D001930||tbi traumatic brain injury D001930||trauma brain D001930||traumas brain D001930||traumatic brain injuries D001930||traumatic brain injury D001930||traumatic encephalopathies D001930||traumatic encephalopathy C566954|611407||cardiomyopathy dilated 1w C566954|611407||cmd1w C566794||platelet alpha delta storage pool deficiency D001935||branchioma D001935||branchial cleft cyst D001935||branchial cleft cysts D001935||branchial cyst D001935||branchial cysts D001935||branchiomas D001935||cleft cyst branchial D001935||cleft cysts branchial D001935||cyst branchial D001935||cyst branchial cleft D001935||cysts branchial D001935||cysts branchial cleft C565465||inosine phosphorylase deficiency immune defect due to C566796||platelet signal processing defect C565466||indolylacroyl glycinuria with mental retardation C564136||immune deficiency familial variable D013919||thromboangiitis obliterans D013919||buerger disease D013919||buerger apos s disease D013919||buergers disease D013919||disease buerger D013919||disease buerger apos s D013919||thromboangitis obliterans D001249|600807||asthma D001249|600807||asthma bronchial D001249|600807||asthma diminished response to antileukotriene treatment in included D001249|600807||asthma related traits susceptibility to asthma protection against included D001249|600807||asthmas D001249|600807||asthma susceptibility to D001249|600807||bronchial asthma 605027|D008228||lymphoma non hodgkin 605027|D008228||diffuse lymphoma 605027|D008228||diffuse lymphomas 605027|D008228||diffuse mixed cell lymphoma 605027|D008228||diffuse mixed cell lymphomas 605027|D008228||diffuse mixed small and large cell lymphoma 605027|D008228||diffuse small cleaved cell lymphoma 605027|D008228||diffuse undifferentiated lymphoma 605027|D008228||diffuse undifferentiated lymphomas 605027|D008228||high grade lymphoma 605027|D008228||high grade lymphomas 605027|D008228||intermediate grade lymphoma 605027|D008228||intermediate grade lymphomas 605027|D008228||low grade lymphoma 605027|D008228||low grade lymphomas 605027|D008228||lymphatic sarcoma 605027|D008228||lymphatic sarcomas 605027|D008228||lymphocytic histiocytic lymphoma mixed 605027|D008228||lymphocytic histiocytic lymphomas mixed 605027|D008228||lymphoma atypical diffuse small lymphoid 605027|D008228||lymphoma diffuse 605027|D008228||lymphoma diffuse mixed cell 605027|D008228||lymphoma diffuse mixed lymphocytic histiocytic 605027|D008228||lymphoma diffuse undifferentiated 605027|D008228||lymphoma high grade 605027|D008228||lymphoma intermediate grade 605027|D008228||lymphoma low grade 605027|D008228||lymphoma mixed 605027|D008228||lymphoma mixed cell 605027|D008228||lymphoma mixed cell diffuse 605027|D008228||lymphoma mixed lymphocytic histiocytic 605027|D008228||lymphoma mixed small and large cell diffuse 605027|D008228||lymphoma nonhodgkin 605027|D008228||lymphoma non hodgkin familial 605027|D008228||lymphoma nonhodgkins 605027|D008228||lymphoma nonhodgkin apos s 605027|D008228||lymphoma non hodgkins 605027|D008228||lymphoma non hodgkin apos s 605027|D008228||lymphoma pleomorphic 605027|D008228||lymphomas diffuse 605027|D008228||lymphomas diffuse mixed cell 605027|D008228||lymphomas diffuse undifferentiated 605027|D008228||lymphomas high grade 605027|D008228||lymphomas intermediate grade 605027|D008228||lymphomas low grade 605027|D008228||lymphoma small and large cleaved cell diffuse 605027|D008228||lymphoma small cleaved cell diffuse 605027|D008228||lymphoma small noncleaved cell 605027|D008228||lymphoma small non cleaved cell 605027|D008228||lymphomas mixed 605027|D008228||lymphomas mixed cell 605027|D008228||lymphomas mixed lymphocytic histiocytic 605027|D008228||lymphomas pleomorphic 605027|D008228||lymphomas small noncleaved cell 605027|D008228||lymphomas small non cleaved cell 605027|D008228||lymphomas undifferentiated 605027|D008228||lymphoma undifferentiated 605027|D008228||lymphoma undifferentiated diffuse 605027|D008228||lymphosarcoma 605027|D008228||lymphosarcomas 605027|D008228||mixed cell lymphoma 605027|D008228||mixed cell lymphoma diffuse 605027|D008228||mixed cell lymphomas 605027|D008228||mixed cell lymphomas diffuse 605027|D008228||mixed lymphocytic histiocytic lymphoma 605027|D008228||mixed lymphocytic histiocytic lymphomas 605027|D008228||mixed lymphoma 605027|D008228||mixed lymphomas 605027|D008228||mixed small and large cell lymphoma diffuse 605027|D008228||nhl 605027|D008228||noncleaved cell lymphoma small 605027|D008228||non cleaved cell lymphoma small 605027|D008228||noncleaved cell lymphomas small 605027|D008228||non cleaved cell lymphomas small 605027|D008228||non hodgkin lymphoma 605027|D008228||nonhodgkin apos s lymphoma 605027|D008228||nonhodgkins lymphoma 605027|D008228||non hodgkin apos s lymphoma 605027|D008228||non hodgkins lymphoma 605027|D008228||pleomorphic lymphoma 605027|D008228||pleomorphic lymphomas 605027|D008228||reticulosarcoma 605027|D008228||reticulosarcomas 605027|D008228||reticulum cell sarcoma 605027|D008228||reticulum cell sarcomas 605027|D008228||sarcoma lymphatic 605027|D008228||sarcoma reticulum cell 605027|D008228||sarcomas lymphatic 605027|D008228||sarcomas reticulum cell 605027|D008228||small cleaved cell lymphoma diffuse 605027|D008228||small noncleaved cell lymphoma 605027|D008228||small non cleaved cell lymphoma 605027|D008228||small noncleaved cell lymphomas 605027|D008228||small non cleaved cell lymphomas 605027|D008228||undifferentiated lymphoma 605027|D008228||undifferentiated lymphoma diffuse 605027|D008228||undifferentiated lymphomas 605027|D008228||undifferentiated lymphomas diffuse D056733|160980||carney complex D056733|160980||car D056733|160980||carney complex type 1 D056733|160980||carney complex type 2 D056733|160980||carney complex type i D056733|160980||carney complex type ii D056733|160980||carney myxoma endocrine complex D056733|160980||carney myxoma endocrine complex type 2 D056733|160980||carney myxoma endocrine complex type ii D056733|160980||carney syndrome D056733|160980||cnc1 D056733|160980||cnc2 D056733|160980||complex carney D056733|160980||complex carney myxoma endocrine D056733|160980||lamb lentigines atrial myxoma mucocutaneous myoma blue nevus syndrome D056733|160980||lamb syndrome D056733|160980||lamb syndromes D056733|160980||myxoma endocrine complex carney D056733|160980||myxoma spotty pigmentation and endocrine overactivity D056733|160980||name syndrome D056733|160980||name syndromes D056733|160980||nevi atrial myxoma skin myxoma ephelides syndrome D056733|160980||syndrome carney D056733|160980||syndrome lamb D056733|160980||syndromes lamb C562602|606824||glucose galactose malabsorption C562602|606824||carbohydrate intolerance C562602|606824||complex carbohydrate intolerance C562602|606824||ggm C562602|606824||gm C562602|606824||monosaccharide malabsorption 601072||deafness autosomal recessive 8 601072|C565341||deafness autosomal recessive 10 601072|C563395||deafness childhood onset neurosensory autosomal recessive 8 601072|C565341||dfnb10 601072||dfnb8 601072|C563395||neurosensory nonsyndromic recessive deafness 8 601072||nsrd8 C565471||ichthyosis split hairs and amino aciduria D000608||renal aminoacidurias D000608||aminoaciduria renal D000608||aminoacidurias renal D000608||renal aminoaciduria C567063|300676||mental retardation x linked syndromic 14 C567063|300676||mrxs14 C565473||self healing collodion baby 154500|D008342||mandibulofacial dysostosis 154500|D008342||collins syndrome treacher 154500|D008342||dysostoses mandibulofacial 154500|D008342||dysostosis mandibulofacial 154500|D008342||franceschetti zwahlen klein syndrome 154500|D008342||mandibulofacial dysostoses 154500|D008342||mandibulofacial dysostosis mfd1 154500|D008342||mfd1 154500|D008342||syndrome treacher collins 154500|D008342||tcof 154500|D008342||tcs 154500|D008342||tcs1 154500|D008342||treacher collins franceschetti syndrome 154500|D008342||treacher collins syndrome 154500|D008342||treacher collins syndrome 1 C537834|217800||macular dystrophy corneal type 1 C537834|217800||corneal dystrophy macular type C537834|217800||groenouw type ii corneal dystrophy C537834|217800||macular corneal dystrophy type 1 C537834|217800||macular corneal dystrophy type i C537834|217800||macular corneal dystrophy type i macular corneal dystrophy type ii included C537834|217800||macular dystrophy corneal 1 C537834|217800||mcd C537834|217800||mcdc1 C564140||leber congenital amaurosis 11 C565478||hypophosphatemia renal with intracerebral calcifications C564146||odontohypophosphatasia D041441|312700||retinoschisis D041441|312700||congenital x linked retinoschisis D041441|312700||degenerative retinoschises D041441|312700||degenerative retinoschisis D041441|312700||juvenile retinoschises D041441|312700||juvenile retinoschises x linked D041441|312700||juvenile retinoschisis D041441|312700||juvenile retinoschisis x linked D041441|312700||juveniles retinoschisis x linked D041441|312700||retinoschises D041441|312700||retinoschises degenerative D041441|312700||retinoschises juvenile D041441|312700||retinoschises x linked D041441|312700||retinoschises x linked juvenile D041441|312700||retinoschisis 1 x linked juvenile D041441|312700||retinoschisis degenerative D041441|312700||retinoschisis juvenile D041441|312700||retinoschisis juvenile x chromosome linked D041441|312700||retinoschisis juvenile x linked D041441|312700||retinoschisis x linked D041441|312700||retinoschisis x linked juvenile D041441|312700||retinoschisis x linked juveniles D041441|312700||rs D041441|312700||rs1 D041441|312700||x linked juvenile retinoschises D041441|312700||x linked juvenile retinoschisis D041441|312700||x linked juveniles retinoschisis D041441|312700||x linked retinoschises D041441|312700||x linked retinoschisis D041441|312700||xlrs1 C564144||hypoplasia of teeth roots D001941||breast diseases D001941||breast disease D001941||breast disease endocrine D001941||breast diseases endocrine D001941||disease breast D001941||disease endocrine breast D001941||diseases breast D001941||diseases endocrine breast D001941||endocrine breast disease D001941||endocrine breast diseases C564143||hypotrichosis simplex of scalp C565475||hypouricemia hypercalcinuria and decreased bone density D001946||breech presentation D001946||breech complete D001946||breech fetal presentation D001946||breech incomplete D001946||breech labor presentation D001946||breech presentation frank D001946||complete breech D001946||fetal presentation breech D001946||frank breech presentation D001946||incomplete breech D001946||labor presentation breech D001946||presentation breech D001946||presentation breech fetal D001946||presentation breech labor D001946||presentation frank breech C564148||hypoparathyroidism autosomal recessive C565477||hypopituitarism congenital with central diabetes insipidus D013927||thrombosis D013927||thromboses D013927||thrombus 614379||complement component 4b deficiency 614379||c4bd 614379||c4b deficiency D013921||thrombocytopenia D013921||thrombocytopenias D013921||thrombopenia D013921||thrombopenias D013922||thrombocytosis D013922||thrombocythemia D013922||thrombocythemias D013922||thrombocytoses C536907||thymic renal anal lung dysplasia C536904||thumb deformity alopecia pigmentation anomaly C536904||congenital deformity of the thumb and congenital alopecia C536904||hypotrichosis associated with congenital hypoplasia of the thumb C536905||thymic epithelial tumor C536905||epithelial tumor of thymus C536905||thymoma adult D013923||thromboembolism D013923||thromboembolisms C536908||thyrocerebral retinal syndrome C536908||thyrocerebroretinal syndrome D013924||thrombophlebitis D013924||dolens phlegmasia alba D013924||phlegmasia alba dolens D013924||thrombophlebitides C536909||thyroglossal tract cyst C536909||familial thyroglossal duct cyst C536909||hereditary thyroglossal duct cysts C536909||thyroglossal duct cyst familial C536909||thyroglossal duct cysts familial C565481||hypohidrosis aith abnormal palmar dermal ridges C565481||sweat gland hypoplasia C565482||hypogonadism with low grade mental deficiency and microcephaly C565484||hypoglycemia neonatal simulating foetopathia diabetica D001948||brenner tumor D001948||benign brenner tumor D001948||brenner tumor benign D001948||brenner tumor malignant D001948||brenner tumor of ovary D001948||brenner tumor proliferative D001948||malignant brenner tumor D001948||ovarian brenner tumor D001948||ovary brenner tumor D001948||proliferative brenner tumor C536903||thumb deformity C536903||thumb absent or hypoplastic C536903||thumb hypoplastic C564152||hypertrophia musculorum vera C536900||thrombomodulin anomalies familial C564151||hypocalciuric hypercalcemia acquired C536901||thrombotic thrombocytopenic purpura acquired C536901||idiopathic thrombotic thrombocytopenic purpura C536901||moschowitz syndrome 611283|C535541||isobutyryl coa dehydrogenase deficiency 611283|C535541||acad8 deficiency 611283|C535541||acyl coa dehydrogenase family member 8 deficiency of 611283|C535541||ibd deficiency 611283|C535541||isobutyryl coenzyme a dehydrogenase deficiency C566776||polyposis intestinal with multiple exostoses C565446||lactic aciduria due to d lactic acid C564112||leukemia acute x linked C566778||adenomatous polyposis coli attenuated C566778||brain tumor polyposis syndrome 2 260350||pancreatic cancer pancreatic carcinoma 260350|D010190|260350|C562463||pancreatic acinar carcinoma C564110||macular dystrophy x linked C565441||leukemia acute myelocytic with polyposis coli and colon cancer C565442||leg absence deformity of with congenital cataract C566773||polysyndactyly crossed D016170||accelerated idioventricular rhythm D016170||accelerated idioventricular rhythms D016170||aivr D016170||idioventricular rhythm accelerated D016170||idioventricular rhythms accelerated D016170||slow ventricular tachycardia D016170||slow ventricular tachycardias D016170||ventricular tachycardia slow D016170||ventricular tachycardias slow D001913||bowen apos s disease D001913||bowen disease D001913||bowens disease D001913||disease bowen D001913||disease bowen apos s C566774||polyps multiple and recurrent inflammatory fibroid gastrointestinal D016171||torsades de pointes D016171||de pointes torsade D016171||de pointes torsades D016171||pointes torsade de D016171||pointes torsades de D016171||torsade de pointes D001912||bovine virus diarrhea mucosal disease D001912||mucosal disease bovine viral diarrhea C566775||polyposis of gastric fundus without polyposis coli C566775||fundic gland polyposis C564118||jaundice familial obstructive of infancy C562490|115080||cardiac conduction defect C562490|115080||familial sudden death included C562490|115080||scd included C562490|115080||sudden cardiac death included D004195||disease models animal D004195||animal disease model D004195||animal disease models D004195||disease model animal C536918||tibia absent polydactyly arachnoid cyst C567652|613291||bile acid malabsorption primary C567652|613291||pbam D004194||disease C536916||thyroid hormone plasma membrane transport defect C536916||hyperthyroxinemia eumetabolic due to t4 plasma membrane transport C536916||thyroid hormone resistance due to t4 plasma membrane transport defect D053159||dysuria C536910||thyroid cancer anaplastic C536910||anaplastic thyroid cancer C536910||anaplastic thyroid carcinoma C536910||thyroid carcinoma anaplastic C566780||actinic prurigo C566780||polymorphic light eruption hereditary D053158||nocturia D053158||nycturia C566781||juvenile spring eruption of ears D017497||hidradenitis suppurativa D017497||acne inversa D017497||acne inversas D017497||hidradenitides suppurative D017497||hidradenitis suppurative D017497||inversa acne D017497||inversas acne D017497||suppurative hidradenitides D017497||suppurative hidradenitis C564120||immunodeficiency x linked with deficiency of 115 000 dalton surface glycoprotein C564120||gpl115 deficiency C536914||thyroid cancer medullary C536914||medullary thyroid cancer mtc C536914||thyroid carcinoma medullary D017499||porokeratosis D017499||disseminated superficial actinic porokeratosis D017499||keratoderma palmoplantar punctate type 2 D017499||linear porokeratosis D017499||mibelli porokeratosis D017499||palmoplantar porokeratosis D017499||porokeratosis disseminated superficial actinic D017499||porokeratosis linear D017499||porokeratosis mibelli D017499||porokeratosis of mibelli D017499|C536338|175850||porokeratosis palmaris et plantaris disseminata D017499|C536338|175850||porokeratosis palmar plantar and disseminated 1 D017499||porokeratosis palmoplantar D017499|C536338|175850||porokeratosis plantaris palmaris et disseminata D017499||porokeratosis punctate D017499||punctate porokeratosis D017499||type 2 punctate ppk D001919||bradycardia D001919||bradyarrhythmia D001919||bradyarrhythmias D001919||bradycardias C565456||keratoconus and congenital hip dysplasia C564122||hyperthyroxinemia due to decreased peripheral conversion of t4 C564122||5 prime deiodinase deficiency generalized causing euthyroid hyperthyroxinemia C565452||kniest like dysplasia with pursed lips and ectopia lentis C565452||burton syndrome C566783||crossed polydactyly type i C564128||indifference to pain congenital autosomal dominant C564128||congenital analgesia autosomal dominant D016180||lentivirus infections D016180||infection lentivirus D016180||infections lentivirus D016180||lentivirus infection D001925||brain damage chronic D001925||chronic brain damage D001925||chronic encephalopathy D001925||encephalopathy chronic C565453||ketoadipicaciduria C566784||polydactyly preaxial iii C566784||index finger polydactyly C564127||inosine triphosphatase deficiency D016181||feline acquired immunodeficiency syndrome D016181||aids feline D016181||faids D016181||feline acquired immune deficiency syndrome D016181||feline acquired immuno deficiency syndrome D016181||feline aids D001924||brain concussion D001924||brain concussions D001924||cerebral concussion D001924||cerebral concussions D001924||commotio cerebri D001924||concussion brain D001924||concussion cerebral D001924||concussion intermediate D001924||concussion mild D001924||concussion severe D001924||intermediate concussion D001924||intermediate concussions D001924||mild concussion D001924||mild concussions D001924||severe concussion D001924||severe concussions C565454||keratoderma palmoplantar norrbotten recessive type D016182||visna D016182||encephalomyelitides ovine D016182||encephalomyelitis ovine D016182||ovine encephalomyelitides D016182||ovine encephalomyelitis D016182||visnas C565455||keratoconus posticus circumscriptus with associated malformations C565455||kpc with associated malformations C564125||internal carotid artery spontaneous dissection of D016183||murine acquired immunodeficiency syndrome D016183||aids murine D016183||aidss murine D016183||maids D016183||murine acquired immune deficiency syndrome D016183||murine acquired immuno deficiency syndrome D016183||murine aids D016183||murine aidss D001922||brain abscess D001922||abscess brain D001922||abscess cerebral D001922||abscess child brain D001922||abscesses cerebral D001922||abscesses multiple brain D001922||abscess multiple brain D001922||abscess pyogenic brain D001922||brain abscess child D001922||brain abscesses D001922||brain abscesses multiple D001922||brain abscesses pyogenic D001922||brain abscesses sterile D001922||brain abscess multiple D001922||brain abscess pyogenic D001922||brain abscess sterile D001922||cerebral abscess D001922||cerebral abscesses D001922||child brain abscess D001922||multiple brain abscess D001922||multiple brain abscesses D001922||pyogenic brain abscess D001922||pyogenic brain abscesses D001922||sterile brain abscess D001922||sterile brain abscesses D004198||disease susceptibility D004198||diatheses D004198||diathesis D004198||disease susceptibilities D004198||susceptibilities disease D004198||susceptibility disease C563869|608728||spondyloepimetaphyseal dysplasia matrilin 3 related C563869|608728||semd matn3 related D029481||bronchitis chronic D029481||chronic bronchitis C536927||tunglang savage bellman syndrome C536927||hearing loss and familial salivary gland insensitivity to aldosterone C536927||hearing loss insensitivity to aldosterone D013901||thoracic outlet syndrome D013901||aperture syndrome thoracic outlet D013901||arterial thoracic outlet syndrome D013901||costoclavicular syndrome D013901||costoclavicular syndromes D013901||nerve compression syndrome thoracic outlet D013901||neurogenic thoracic outlet syndrome D013901||neurologic syndrome thoracic outlet D013901||neurovascular syndrome thoracic outlet D013901||outlet syndromes thoracic D013901||outlet syndrome thoracic D013901||scalenus anticus syndrome D013901||superior thoracic aperture syndrome D013901||syndrome costoclavicular D013901||syndrome scalenus anticus D013901||syndromes costoclavicular D013901||syndromes thoracic outlet D013901||syndrome thoracic outlet D013901||thoracic outlet nerve compression syndrome D013901||thoracic outlet neurologic syndrome D013901||thoracic outlet neurovascular syndrome D013901||thoracic outlet syndrome neurogenic D013901||thoracic outlet syndromes D013901||venous thoracic outlet syndrome C563786|609152||hyperthyroidism nonautoimmune C563786|609152||hyperthyroidism congenital nonautoimmune C563786|609152||hyperthyroidism nonautoimmune autosomal dominant C563786|609152||toxic thyroid hyperplasia autosomal dominant D001929||brain edema D001929||brain edema cytotoxic D001929||brain edema vasogenic D001929||brain swelling D001929||brain swellings D001929||cerebral edema D001929||cerebral edema cytotoxic D001929||cerebral edemas vasogenic D001929||cerebral edema vasogenic D001929||cytotoxic brain edema D001929||cytotoxic cerebral edema D001929||edema brain D001929||edema cerebral D001929||edema cytotoxic brain D001929||edema cytotoxic cerebral D001929||edema intracranial D001929||edema vasogenic brain D001929||edema vasogenic cerebral D001929||intracranial edema D001929||swelling brain D001929||vasogenic brain edema D001929||vasogenic cerebral edema C536921||tiglic acidemia C536921||disorder of isoleucine metabolism C565460||jejunal atresia with microcephaly and ocular anomalies C565460||apple peel syndrome with microcephaly and ocular anomalies C565460||stromme syndrome D001928||brain diseases metabolic D001928||acquired metabolic diseases brain D001928||acquired metabolic diseases nervous system D001928||acquired metabolic encephalopathies D001928||acquired metabolic encephalopathy D001928||brain disease metabolic D001928||brain diseases metabolic acquired D001928||brain disorder metabolic D001928||brain disorders metabolic D001928||brain disorders metabolic acquired D001928||brain metabolic disorder D001928||brain metabolic disorders D001928||brain syndrome metabolic D001928||brain syndrome metabolic acquired D001928||central nervous system metabolic disorders D001928||cns metabolic disorder D001928||cns metabolic disorders D001928||cns metabolic disorders acquired D001928||encephalopathies acquired metabolic D001928||encephalopathies metabolic D001928||encephalopathy acquired metabolic D001928||encephalopathy metabolic D001928||encephalopathy metabolic acquired D001928||metabolic brain disease D001928||metabolic brain diseases D001928||metabolic brain diseases acquired D001928||metabolic brain disorder D001928||metabolic brain disorders D001928||metabolic brain syndrome D001928||metabolic brain syndrome acquired D001928||metabolic brain syndromes D001928||metabolic brain syndromes acquired D001928||metabolic diseases acquired nervous system D001928||metabolic disorder brain D001928||metabolic disorder central nervous system acquired D001928||metabolic disorder cns D001928||metabolic disorders brain D001928||metabolic disorders central nervous system D001928||metabolic disorders cns D001928||metabolic disorders cns acquired D001928||metabolic encephalopathies D001928||metabolic encephalopathies acquired D001928||metabolic encephalopathy D001928||metabolic encephalopathy acquired D001928||nervous system acquired metabolic diseases C565461||intrinsic factor and r binder combined congenital deficiency of C566792||potter type iii polycystic kidney disease D001927||brain diseases D001927||brain disease D001927||brain disorder D001927||brain disorders D001927||brain pathology D001927||central nervous system disorders intracranial D001927||central nervous system intracranial disorders D001927||cns disorder intracranial D001927||cns disorders intracranial D001927||encephalon disease D001927||encephalon diseases D001927||intracranial central nervous system disorders D001927||intracranial cns disorder D001927||intracranial cns disorders D001927||pathology brain C565462||iris coloboma with ptosis hypertelorism and mental retardation C566793||pectoralis muscle absence of C535556|300262||abidi x linked mental retardation syndrome C535556|300262||mental retardation x linked abidi type C535556|300262||mental retardation x linked syndromic abidi type C535556|300262||mrxsab C535556|300262||short stature small head circumference sloping forehead hearing loss cupped ears and small testes D001926||brain death D001926||brain dead D001926||brain deads D001926||coma depasse D001926||coma irreversible D001926||death brain D001926||irreversible coma C536924||tufted angioma C536924||angioma tufted C564131||kappa chain deficiency 604715|D054971||orthostatic intolerance 604715|D054971||intolerance orthostatic 604715|D054971|C531763||irritable heart 604715|D054971|D008945||mitral valve prolapse syndrome 604715|D054971|D009449||neurocirculatory asthenia 604715|D054971|C531763||soldiers heart C536922||tubulointerstitial nephritis and uveitis C536922||tubulointerstitial nephritis with uveitis C536923||tucker syndrome C536923||congenital bilateral recurrent nerve paralysis and ptosis C536923||ptosis vocal cord paralysis C536923||vocal cord paralysis and ptosis C566754||pruritus hereditary localized C566755||hyperprothrombinemia C566755||prothrombin g20210a thrombophilia C566755||prothrombin thrombophilia C565021|134610||familial mediterranean fever autosomal dominant C565021|134610||fmf autosomal dominant C565425||macrosomia adiposa congenita D017484||dermatitis phototoxic D017484||contact dermatitides phototoxic D017484||contact dermatitis phototoxic D017484||dermatitides phototoxic D017484||dermatitides phototoxic contact D017484||dermatitis contact phototoxic D017484||dermatitis phototoxic contact D017484||phototoxic contact dermatitides D017484||phototoxic contact dermatitis D017484||phototoxic dermatitides D017484||phototoxic dermatitis D017484||phototoxicity C566757||pronation supination of the forearm impairment of D016154||digestive system fistula D016154||digestive system fistulas D016154||fistula digestive system D016154||fistulas digestive system C566750||acholinesterasemia C565420||mandibulofacial dysostosis with mental deficiency C566751||butyrylcholinesterase deficiency fluoride resistant japanese type C566751||hypocholinesterasemia fluoride resistant japanese type C565421||malocclusion and short stature C566753||pseudoarthrogryposis C566753||ankylosis at elbow and knee C566753||hereditary congenital rigidity of elbows and knees D004169||diphyllobothriasis D004169||diphyllobothriases 116600||cataract 6 multiple types 116600|C567814||arcc2 116600|C567814||cataract age related cortical 2 116600|C535339||cataract posterior polar 1 116600||ctpp1 116600||ctrct6 160900|C538008||dystrophia myotonica 1 160900|C538008|D009223||dm 160900|C538008||dm1 160900|C538008|D009223||dystrophia myotonica 160900|C538008||myotonic dystrophy 1 160900|C538008|D009223||steinert disease 160900|C538008||steinert myotonic dystrophy D005497||follicular cyst D005497||cyst follicular D005497||cysts follicular D005497||follicular cysts C565427||lymphopenic hypergammaglobulinemia antibody deficiency autoimmune hemolytic anemia and glomerulonephritis D049914||dna repair deficiency disorders D049914||chromosome instability syndrome D049914||chromosome instability syndromes D049914||deficient dna repair D049914||deficient dna repairs D049914||disorder dna repair deficiency D049914||disorders dna repair deficiency D049914||dna repair deficiencies D049914||dna repair deficiency D049914||dna repair deficiency disorder D049914||dna repair deficient D049914||dna repairs deficient D049914||repair deficient dna D049914||repairs deficient dna D049914||syndrome chromosome instability D049914||syndromes chromosome instability C565428||lymphokine deficiency D004165||diphtheria D004165||diphtherias C566759||primary release disorder of platelets D005499||folliculitis D005499||folliculitides D005499||sycoses D005499||sycosis 256850|D056768||giant axonal neuropathy 256850|D056768||axonal neuropathy giant 256850|D056768||axonal neuropathy giant gan 256850|D056768||gan 256850|D056768||gan1 256850|D056768||giant axonal neuropathy 1 256850|D056768||giant axonal neuropathy 1 autosomal recessive 256850|D056768||giant axonal neuropathy 1 gan1 256850|D056768||giant axonal neuropathy gan 256850|D056768||neuropathy giant axonal 256850|D056768||neuropathy giant axonal autosomal recessive 256850|D056768||neuropathy giant axonal gan D004172||diplopia D004172||cortical diplopia D004172||cortical diplopias D004172||diplopia cortical D004172||diplopia horizontal D004172||diplopia intermittent D004172||diplopia monocular D004172||diplopia refractive D004172||diplopias D004172||diplopias cortical D004172||diplopias horizontal D004172||diplopias intermittent D004172||diplopias monocular D004172||diplopias refractive D004172||diplopias unilateral D004172||diplopias vertical D004172||diplopia unilateral D004172||diplopia vertical D004172||double vision D004172||horizontal diplopia D004172||horizontal diplopias D004172||intermittent diplopia D004172||intermittent diplopias D004172||monocular diplopia D004172||monocular diplopias D004172||polyopsia D004172||polyopsias D004172||refractive diplopia D004172||refractive diplopias D004172||unilateral diplopia D004172||unilateral diplopias D004172||vertical diplopia D004172||vertical diplopias D004172||vision double C535407|613163||gamma aminobutyric acid transaminase deficiency C535407|613163||4 alpha aminobutyrate transaminase deficiency C535407|613163||gaba transaminase deficiency C535407|613163||gamma aminobutyrate transaminase deficiency C536465|600193||waardenburg syndrome type 2b C536465|600193||waardenburg syndrome type iib C536465|600193||ws2b C566765||long qt syndrome 2 5 C565436||fibular aplasia tibial campomelia and oligosyndactyly syndrome C565436||fatco syndrome C566767||postaxial oligodactyly tetramelic D017495||hyperpigmentation D017495||hypermelanoses D017495||hypermelanosis C564100|309630||metacarpal 4 5 fusion C565437|246560||limb deficiencies distal with micrognathia C565437|246560||split hand foot malformation 3 C566768||porphyria cutanea tarda type i C566768||pct sporadic type C566768||pct type i D017496||hypopigmentation D017496||hypomelanoses D017496||hypomelanosis C565430||lymphoid system deterioration progressive C565431||lymphoblastic transformation intrinsic defect in C566762||sacral agenesis syndrome C566762||sacral agenesis hereditary with presacral mass anterior meningocele and or teratoma and anorectal malformation D018192|606690||lymphangioleiomyomatosis D018192|606690||lam D018192|606690||lymphangioleiomyomatoses D018192|606690||lymphangiomyomatoses D018192|606690||lymphangiomyomatosis C565432||lymphedema congenital recessive C565433||lymphoblastic transformation inhibition of C566764||prader willi like syndrome associated with chromosome 6 613000|C538682||palmoplantar keratoderma nonepidermolytic focal 613000|C538682||fneppk 613000|C538682||focal nonepidermolytic palmoplantar keratoderma 613000|C538682||keratoderma focal nonepidermolytic palmoplantar 607115|D056587||cryopyrin associated periodic syndromes 607115|D056587||caps3 607115|D056587||chronic infantile neurological cutaneous and articular syndrome 607115|D056587||chronic infantile neurological cutaneous articular syndrome 607115|D056587||chronic infantile neurologic cutaneous and articular syndrome 607115|D056587||chronic neurologic cutaneous and articular syndrome 607115|D056587||cinca 607115|D056587||cinca syndrome 607115|D056587|120100||cold induced autoinflammatory syndrome familial 607115|D056587|120100||cold urticaria familial 607115|D056587||cold urticarias familial 607115|D056587||cryopyrin associated periodic syndrome 607115|D056587||cryopyrin associated periodic syndrome 3 607115|D056587||cryopyrinopathies 607115|D056587||cryopyrinopathy 607115|D056587||familial cold autoinflammatory syndrome 607115|D056587|120100||familial cold autoinflammatory syndrome 1 607115|D056587||familial cold induced autoinflammatory syndrome 607115|D056587||familial cold urticaria 607115|D056587||familial cold urticarias 607115|D056587|120100||fcas1 607115|D056587||infantile onset multisystem inflammatory disease 607115|D056587||iomid 607115|D056587||iomid syndrome 607115|D056587||iomid syndromes 607115|D056587||multisystem inflammatory disease neonatal onset 607115|D056587||neonatal onset multisystem inflammatory disease 607115|D056587||nomid 607115|D056587||periodic syndrome cryopyrin associated 607115|D056587||periodic syndromes cryopyrin associated 607115|D056587||prieur griscelli syndrome 607115|D056587||prieur griscelli syndromes 607115|D056587||syndrome cryopyrin associated periodic 607115|D056587||syndrome iomid 607115|D056587||syndrome muckle wells 607115|D056587||syndrome prieur griscelli 607115|D056587||syndromes cryopyrin associated periodic 607115|D056587||syndromes iomid 607115|D056587||syndromes prieur griscelli 607115|D056587||syndromes uda 607115|D056587||syndromes urticaria deafness amyloidosis 607115|D056587||syndrome uda 607115|D056587||syndrome urticaria deafness amyloidosis 607115|D056587||uda syndromes 607115|D056587||urticaria deafness amyloidosis syndromes 607115|D056587||urticaria deafness and amyloidosis 607115|D056587||urticaria familial cold 607115|D056587||urticarias familial cold C564109||male pseudohermaphroditism due to deficiency of testicular 17 20 desmolase C567389|612240||atrial fibrillation familial 7 C567389|612240||atfb7 C564107||mental retardation associated with psoriasis C567273|127500||dyschromatosis universalis hereditaria 1 C567273|127500||duh1 C565438||limb defects distal transverse with mental retardation and spasticity C566769||porphyria acute intermittent nonerythroid variant C565439||leukotriene c4 synthase deficiency C565439||ltc4 synthase deficiency C567315|612437||epilepsy progressive myoclonic 1b C567315|612437|C580388||epm1b D004184||dirofilariasis D004184||dirofilariases D004184||disease heartworm D004184||heartworm disease D010214|245000||papillon lefevre disease D010214|245000||haim monk syndrome D010214|245000||keratosis palmoplantaris with periodontopathia D010214|245000||keratosis palmoplantar periodontopathies D010214|245000||keratosis palmoplantar periodontopathy D010214|245000||palmoplantar periodontopathies keratosis D010214|245000||pals D010214|245000||papillon lefevre syndrome D010214|245000||pls D001907||boutonneuse fever D001907||boutonneuse fevers D001907||fever boutonneuse D001907||fever mediterranean spotted D001907||fevers boutonneuse D001907||mediterranean spotted fever D001907||spotted fever mediterranean D001906||botulism D001906||botulism foodborne D001906||botulism infant D001906||botulism infantile D001906||botulisms foodborne D001906||botulisms infant D001906||botulisms wound D001906||botulism toxico infectious D001906||botulism wound D001906||foodborne botulism D001906||foodborne botulisms D001906||infant botulism D001906||infant botulisms D001906||infantile botulism D001906||toxico infectious botulism D001906||wound botulism D001906||wound botulisms C565440||leukomelanoderma infantilism mental retardation hypodontia hypotrichosis D017486||acneiform eruptions D017486||acneiform eruption D017486||eruption acneiform D017486||eruptions acneiform D016155||oral fistula D016155||fistula oral D016155||fistulas oral D016155||oral fistulas D016156||respiratory tract fistula D016156||fistula respiratory tract D016156||fistulas respiratory tract D016156||respiratory tract fistulas C567465|300750||spastic paraplegia 34 x linked C567465|300750||spg34 184900|C566112||stiff skin syndrome 184900|C566112||ssks 611431|C548032||legius syndrome 611431|C548032||neurofibromatosis type 1 like syndrome 611431|C548032||nfls D016157||vascular fistula D016157||fistulas vascular D016157||fistula vascular D016157||vascular fistulas 603688||prostate cancer brain cancer susceptibility 603688||capb 603688||pcbc D018792||encephalitis viral D018792||encephalomyelitis infectious viral D018792||encephalomyelitis viral infectious D018792||infectious encephalomyelitis viral D018792||viral encephalitis D018792||viral infectious encephalomyelitis C566733||ciuffo syndrome C566733||pulmonic stenosis atrial septal defect and unique electrocardiographic abnormalities C565403||pseudoarylsulfatase a deficiency C565404||mesomelic limb shortening and bowing C566961|611369||lethal congenital contractural syndrome 3 C566961|611369||lccs3 C566961|611369||lethal congenital contracture syndrome 3 C566961|611369||multiple contractural syndrome israeli bedouin type b C566961|611369||multiple contracture syndrome israeli bedouin type b C566735||pubic bone dysplasia 312080|D020371|169500||pelizaeus merzbacher disease 312080||pmd leukodystrophy hypomyelinating 1 312080|D020371|169500||hld1 C566730|179010||pyloric stenosis infantile hypertrophic 1 C566730|179010||pyloric stenosis infantile C566730|179010||pyloric stenosis infantile hypertrophic 607458|C537197||sensorimotor neuropathy with ataxia autosomal dominant 607458|C537197||sca18 607458|C537197||smna 607458|C537197||spinocerebellar ataxia 18 C565400||metaphyseal chondrodysplasia kaitila type C566731||pupil egg shaped C536687|277590||weaver syndrome C536687|277590||weaver smith syndrome C536687|277590||weaver smith syndrome wss weaver like syndrome included C536687|277590||wvs C565405||mesangial sclerosis diffuse renal with ocular abnormalities C564505|300491||epilepsy x linked with variable learning disabilities and behavior disorders C566736||ptosis strabismus and ectopic pupils C566738||pterygium antecubital C565408||megalencephaly with dysmyelination C565408||megalencephaly with diffuse white matter hypodensity C566739||multiple pterygium syndrome autosomal dominant C566739||arthrogryposis distal type 8 C566739||pterygium syndrome multiple autosomal dominant D005483||flushing D005483||flushings D016127||heart valve prolapse D016127||heart valve prolapses D016127||prolapse heart valve D016127||prolapses heart valve D016127||valve prolapse heart D016127||valve prolapses heart D011087|263300||polycythemia vera D011087|263300||disease osler vaquez D011087|263300||erythremia D011087|263300||erythremias D011087|263300||osler vaquez disease D011087|263300||polycythemia ruba vera D011087|263300||polycythemia rubra vera D011087|263300||polycythemia rubra veras D011087|263300||primary polycythemia D011087|263300||prv D011087|263300||pv D011087|263300||vera polycythemia rubra D011087|263300||veras polycythemia rubra 600059|C564008||retinitis pigmentosa 13 600059|C564008||rp13 D017453||dermatitis irritant D017453||dermatitides irritant D017453||dermatitides primary irritant D017453||dermatitis primary irritant D017453||irritant dermatitides D017453||irritant dermatitides primary D017453||irritant dermatitis D017453||irritant dermatitis primary D017453||primary irritant dermatitides D017453||primary irritant dermatitis D017454||dermatitis photoallergic D017454||contact dermatitides photoallergic D017454||contact dermatitides photosensitive D017454||contact dermatitis photoallergic D017454||contact dermatitis photosensitive D017454||dermatitides photoallergic D017454||dermatitides photoallergic contact D017454||dermatitides photocontact D017454||dermatitides photosensitive contact D017454||dermatitis contact photoallergic D017454||dermatitis contact photosensitive D017454||dermatitis photoallergic contact D017454||dermatitis photocontact D017454||dermatitis photosensitive contact D017454||photoallergic contact dermatitides D017454||photoallergic contact dermatitis D017454||photoallergic dermatitides D017454||photoallergic dermatitis D017454||photoallergies D017454||photoallergy D017454||photocontact dermatitides D017454||photocontact dermatitis D017454||photosensitive contact dermatitides D017454||photosensitive contact dermatitis D018784||abdominal abscess D018784||abdominal abscesses D018784||abscess abdominal D018784||abscesses abdominal D018784||abscesses intra abdominal D018784||abscess intra abdominal D018784||intra abdominal abscess D018784||intra abdominal abscesses C565412||maple syrup urine disease e3 deficient with lactic acidosis C563410|600994||deafness autosomal dominant 5 C563410|600994||dfna5 C565413||maple syrup urine disease type ia C565413||msud1a C566744||pseudoxanthoma elasticum heterozygous C565414||maple syrup urine disease type ib C565414||msud1b 612518|C567287||ciliary dyskinesia primary 10 612518|C567287||cild10 C565415||maple syrup urine disease type ii C565948|206900||microphthalmia syndromic 3 C565948|206900||aeg syndrome C565948|206900||aeg syndrome optic nerve hypoplasia and abnormalities of the central nervous system included C565948|206900||anophthalmia clinical with associated anomalies C565948|206900||anophthalmia esophageal genital syndrome C565948|206900||mcops3 C565948|206900||microphthalmia and esophageal atresia syndrome C565948|206900||sox2 anophthalmia syndrome C565948|206900||sox2 related eye disorders C565948|206900||syndromic microphthalmia 3 607598|C564369||lethal congenital contracture syndrome 2 607598|C564369||lccs2 607598|C564369||multiple contracture syndrome israeli bedouin type a C565336|605365||breast cancer 3 C565336|605365||brca3 C565336|605365||brcax C565410||marfanoid mental retardation syndrome autosomal C566741||pterygium colli isolated D044542|151100||leopard syndrome D044542|151100||cardio cutaneous syndrome D044542|151100||cardio cutaneous syndromes D044542|151100||cardiomyopathic lentiginoses D044542|151100||cardiomyopathic lentiginoses progressive D044542|151100||cardiomyopathic lentiginosis D044542|151100||cardiomyopathic lentiginosis progressive D044542|151100||cardiomyopathics lentiginosis D044542|151100||lentigines syndrome multiple D044542|151100||lentigines syndromes multiple D044542|151100||lentiginoses cardiomyopathic D044542|151100||lentiginoses progressive cardiomyopathic D044542|151100||lentiginosis cardiomyopathic D044542|151100||lentiginosis cardiomyopathics D044542|151100||lentiginosis progressive cardiomyopathic D044542|151100||leopard syndrome 1 D044542|151100||leopard syndrome 1s D044542|151100||leopard syndromes D044542|151100||leopard syndromes 1 D044542|151100||multiple lentigines syndrome D044542|151100||multiple lentigines syndromes D044542|151100||noonan syndrome with multiple lentigines D044542|151100||progressive cardiomyopathic lentiginoses D044542|151100||progressive cardiomyopathic lentiginosis D044542|151100||syndrome cardio cutaneous D044542|151100||syndrome leopard D044542|151100||syndrome multiple lentigines D044542|151100||syndromes 1 leopard D044542|151100||syndromes cardio cutaneous D044542|151100||syndromes leopard D044542|151100||syndromes multiple lentigines C565411||marfanoid habitus with microcephaly and glomerulonephritis D006527|277900||hepatolenticular degeneration D006527|277900||cerebral pseudoscleroses D006527|277900||cerebral pseudosclerosis D006527|277900||copper storage disease D006527|277900||degeneration hepatocerebral D006527|277900||degeneration hepatolenticular D006527|277900||degeneration neurohepatic D006527|277900||degeneration progressive lenticular D006527|277900||degenerations hepatocerebral D006527|277900||degenerations neurohepatic D006527|277900||diseases hepato neurologic wilson D006527|277900||diseases kinnier wilson D006527|277900||hepatic form of wilson disease D006527|277900||hepatocerebral degeneration D006527|277900||hepatocerebral degenerations D006527|277900||hepatolenticular degeneration syndrome D006527|277900||hepato neurologic wilson disease D006527|277900||hepato neurologic wilson diseases D006527|277900||kinnier wilson disease D006527|277900||kinnier wilson diseases D006527|277900||lenticular degeneration progressive D006527|277900||neurohepatic degeneration D006527|277900||neurohepatic degenerations D006527|277900||progressive lenticular degeneration D006527|277900||pseudoscleroses cerebral D006527|277900||pseudosclerosis D006527|277900||pseudosclerosis cerebral D006527|277900||wd D006527|277900||westphal strumpell syndrome D006527|277900||westphal strumpell syndromes D006527|277900||wilson disease D006527|277900||wilson disease hepatic form D006527|277900||wilson disease hepato neurologic D006527|277900||wilson diseases hepato neurologic D006527|277900||wilson apos s disease D006527|277900||wilsons disease D006527|277900||wnd C535278|608644||primary ciliary dyskinesia 3 C535278|608644||cild3 C535278|608644||ciliary dyskinesia primary 3 C535278|608644||ciliary dyskinesia primary 3 with or without situs inversus D004154||dipetalonema infections D004154||dipetalonema infection D004154||dipetalonemiases D004154||dipetalonemiasis D004154||infection dipetalonema D004154||infections dipetalonema C566748||pseudoglaucoma C565418||alpha mannosidosis type ii C566467|610505||combined oxidative phosphorylation deficiency 3 C566467|610505||concentric cardiomyopathy hypotonia and lactic acidosis C566467|610505||coxpd3 C566467|610505||encephalomyopathy respiratory failure and lactic acidosis 255800|239100|D010009||schwartz jampel syndrome type 1 255800||sjs1 schwartz jampel syndrome 255800|239100|D010009||sjs 255800|239100|D010009||myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities 255800|239100|D010009||schwartz jampel aberfeld syndrome 255800|239100|D010009||sja syndrome 255800|239100|D010009||chondrodystrophic myotonia D005494||folic acid deficiency D005494||acid deficiencies folic D005494||acid deficiency folic D005494||deficiencies folic acid D005494||deficiency folic acid D005494||folic acid deficiencies D005491||focal infection dental D005491||dental focal infection D005491||dental focal infections D005491||focal infections dental D005491||infection dental focal D005491||infections dental focal D005490||focal infection D005490||focal infections D005490||infection focal D005490||infections focal 603663||mental health wellness 1 603663||mhw1 D016137||spina bifida cystica D016137||open spina bifida D016137||spina bifida aperta D016137||spina bifida manifesta D016137||spina bifida open 603664||mental health wellness 2 603664||mhw2 C536708|309585||wilson turner x linked mental retardation syndrome C536708|309585||mental retardation x linked syndromic 6 C536708|309585||mental retardation x linked with gynecomastia and obesity C536708|309585||mrxs6 C536708|309585||wilson turner mental retardation syndrome C536708|309585||wts D016135||spinal dysraphism D016135||bifida spina D016135||cleft spine D016135||dysraphia spinal D016135||dysraphias spinal D016135||dysraphicus status D016135||dysraphism spinal D016135||dysraphisms spinal D016135||open spine D016135||rachischises D016135||rachischisis D016135||schistorrhachis D016135||spina bifida D016135||spina bifidas D016135||spinal dysraphia D016135||spinal dysraphias D016135||spinal dysraphisms D016135||status dysraphicus D018798||anemia iron deficiency D018798||anemias iron deficiency D018798||iron deficiency anemia D018798||iron deficiency anemias D016136||spina bifida occulta D016136||closed spinal bifida D016136||dermal sinus D016136||occult spina bifida D016136||sinus dermal D016136||spina bifida occult D016136||spinal bifida closed C566711||retinol binding protein deficiency C566711||familial hypo rbp C566713||retinopathy pericentral pigmentary dominant D017441||necrobiotic disorders D017441||disorder necrobiotic D017441||disorders necrobiotic D017441||necrobioses D017441||necrobiosis D017441||necrobiotic disorder D018771||arthralgia D018771||arthralgias D018771||joint pain D018771||joint pains D018771||pain joint D018771||pains joint D018771||polyarthralgia D018771||polyarthralgias D049950||hyperparathyroidism primary D049950||hyperparathyroidisms primary D049950||primary hyperparathyroidism D049950||primary hyperparathyroidisms C537047|300523||allan herndon dudley syndrome C537047|300523||ahds C537047|300523||allan herndon syndrome C537047|300523||mct8 slc16a2 specific thyroid hormone cell transporter deficiency C537047|300523||mental retardation and muscular atrophy C537047|300523||mental retardation x linked with hypotonia C537047|300523||monocarboxylate transporter 8 deficiency C537047|300523||monocarboxylate transporter 8 mct8 deficiency C537047|300523||t3 resistance C537047|300523||triiodothyronine resistance C537047|300523||x linked mental retardation with hypotonia C566718||retinitis pigmentosa 20 D048629||micronuclei chromosome defective D048629||chromosome defective micronuclei D048629||chromosome defective micronucleus D048629||genotoxicant induced micronuclei D048629||genotoxicant induced micronucleus D048629||micronuclei genotoxicant induced D048629||micronucleus chromosome defective D048629||micronucleus genotoxicant induced D005458||fluoride poisoning D005458||fluoride poisonings D005458||poisoning fluoride D005458||poisonings fluoride C567935|609893||hypothyroidism congenital nongoitrous 3 C567935|609893||chng3 C567935|609893||congenital hypothyroidism nongoitrous 3 C567935|609893|218700|C566852||resistance to thyrotropin C567935|609893|218700|C566852||rtsh C567935|609893|218700|C566852||thyrotropin resistance C566714||osteosarcoma retinoblastoma related 612521|C567285||diabetes mellitus insulin dependent 21 612521|C567285||iddm21 C566717||retinal nonattachment and falciform detachment C564511|300454||mental retardation x linked 77 C564511|300454||mrx77 D017439||cicatrix hypertrophic D017439||cicatrices hypertrophic D017439||hypertrophic cicatrices D017439||hypertrophic cicatrix D017439||hypertrophic scar D017439||hypertrophic scars D017439||scar hypertrophic D017439||scars hypertrophic 300082||cognitive function 1 social 300082||cgf1 300082||social cognition D016104||oligohydramnios D017437||skin and connective tissue diseases D016107||epidermolysis bullosa acquisita D016107||acquired epidermolysis bullosa D016107||acquired form of epidermolysis bullosa D016107||epidermolysis bullosa acquired D016103||spinal fractures D016103||fracture spinal D016103||fractures spinal D016103||spinal fracture C566721||reticular dystrophy of retinal pigment epithelium D018781||tension type headache D018781||headache idiopathic D018781||headache psychogenic D018781||headaches idiopathic D018781||headaches psychogenic D018781||headaches stress D018781||headaches tension D018781||headaches tension type D018781||headaches tension vascular D018781||headache stress D018781||headache tension D018781||headache tension type D018781||headache tension vascular D018781||idiopathic headache D018781||idiopathic headaches D018781||psychogenic headache D018781||psychogenic headaches D018781||stress headache D018781||stress headaches D018781||tension headache D018781||tension headaches D018781||tension type headaches D018781||tension vascular headache D018781||tension vascular headaches D018783||impotence vasculogenic D018783||arteriogenic impotence D018783||impotence arteriogenic D018783||impotence venogenic D018783||leakage penile venous D018783||penile venous leakage D018783||vasculogenic impotence D018783||venogenic impotence D018783||venous leakage penile C566724||raindrop hypopigmentation C566720||retinal aplasia C566720||amaurosis congenita C566729||pyruvate dehydrogenase e1 beta deficiency C566728||radial heads posterior dislocation of C566728||congenital posterior dislocation of the radial head 146550|C535912||marie unna congenital hypotrichosis 146550|C535912|C567718||hypotrichosis 4 146550|C535912||hypotrichosis marie unna type 146550|C535912|C567718||hypotrichosis marie unna type 1 146550|C535912||hypt4 146550|C535912||marie unna hereditary hypotrichosis 146550|C535912|C567718||marie unna hereditary hypotrichosis 1 146550|C535912||muhh1 115310|C565335|605373||paragangliomas 4 115310|C565335|605373||carotid body tumors and multiple extraadrenal pheochromocytomas 115310|C565335|605373||paraganglioma familial malignant 115310|C565335|605373||paragangliomas hereditary extraadrenal 115310||pgl4 115310|C565335|605373||pheochromocytoma extraadrenal and cervical paraganglioma 115310|C565335|605373||pheochromocytoma familial extraadrenal D016115||albinism oculocutaneous D016115||albinism tyrosinase negative D016115||albinism tyrosinase positive D016115||albinism yellow mutant D016115||mutant albinisms yellow D016115||mutant albinism yellow D016115||oculocutaneous albinism D016115||tyrosinase negative albinism D016115||tyrosinase positive albinism D016115||yellow mutant albinism D018778||hantavirus infections D018778||hantavirus infection D018778||infections hantavirus D018777||multiple chemical sensitivity D018777||chemical sensitivities multiple D018777||chemical sensitivity multiple D018777||environmental intolerance idiopathic D018777||environmental intolerances idiopathic D018777||idiopathic environmental intolerance D018777||idiopathic environmental intolerances D018777||intolerance idiopathic environmental D018777||intolerances idiopathic environmental D018777||multiple chemical sensitivities D018777||multiple chemical sensitivity syndrome D018777||sensitivities multiple chemical D018777||sensitivity multiple chemical D016117||albinism ocular D016117||ocular albinism C567674|613271||corneal dystrophy fuchs endothelial 7 C567674|613271||fcd4 locus C567674|613271||fecd7 D017449||dermatitis allergic contact D017449||allergic contact dermatitides D017449||allergic contact dermatitis D017449||allergic eczematous dermatitides D017449||allergic eczematous dermatitis D017449||contact dermatitides allergic D017449||contact dermatitis allergic D017449||dermatitides allergic contact D017449||dermatitides allergic eczematous D017449||dermatitis allergic eczematous D017449||dermatitis contact allergic D017449||eczematous dermatitides allergic D017449||eczematous dermatitis allergic D017443||skin diseases eczematous D017443||disease eczematous skin D017443||diseases eczematous skin D017443||disorder eczematous D017443||disorders eczematous D017443||eczematous disorder D017443||eczematous disorders D017443||eczematous skin disease D017443||eczematous skin diseases D017443||skin disease eczematous D017444||skin diseases papulosquamous D017444||disease papulosquamous skin D017444||diseases papulosquamous skin D017444||disorder papulosquamous D017444||disorders papulosquamous D017444||papulosquamous disorder D017444||papulosquamous disorders D017444||papulosquamous skin disease D017444||papulosquamous skin diseases D017444||skin disease papulosquamous D016113||ichthyosiform erythroderma congenital D016113||congenital ichthyosiform erythroderma D016113||congenital ichthyosiform erythroderma dry type D016113||congenital ichthyosiform erythrodermas D016113||congenital ichthyosiform erythroderma wet type D016113||erythroderma congenital ichthyosiform D016113||erythrodermas congenital ichthyosiform D016113||ichthyosiform erythrodermas congenital D017445||skin diseases vascular D017445||diseases vascular skin D017445||disease vascular skin D017445||skin disease vascular D017445||vascular skin disease D017445||vascular skin diseases D004108||dilatation pathologic D004108||dilatation pathological D004108||dilatations pathologic D004108||dilatations pathological D004108||ectasia D004108||pathological dilatation D004108||pathological dilatations D004108||pathologic dilatation D004108||pathologic dilatations D049970||graves ophthalmopathy D049970||congestive ophthalmopathies D049970||congestive ophthalmopathy D049970||dysthyroid ophthalmopathies D049970||dysthyroid ophthalmopathy D049970||edematous ophthalmopathies D049970||edematous ophthalmopathy D049970||infiltrative ophthalmopathies D049970||infiltrative ophthalmopathy D049970||myopathic ophthalmopathies D049970||myopathic ophthalmopathy D049970||ophthalmopathies congestive D049970||ophthalmopathies dysthyroid D049970||ophthalmopathies edematous D049970||ophthalmopathies infiltrative D049970||ophthalmopathies myopathic D049970||ophthalmopathies thyroid associated D049970||ophthalmopathy congestive D049970||ophthalmopathy dysthyroid D049970||ophthalmopathy edematous D049970||ophthalmopathy graves D049970||ophthalmopathy infiltrative D049970||ophthalmopathy myopathic D049970||ophthalmopathy thyroid associated D049970||thyroid associated ophthalmopathies D049970||thyroid associated ophthalmopathy C536091|601462||myasthenic syndrome congenital postsynaptic slow channel C536091|601462||cms2a C536091|601462||cms iia C536091|601462|D020294||myasthenic syndrome congenital slow channel C536091|601462||myasthenic syndrome congenital type iia C536091|601462||sccms 603471|C538053||adult onset citrullinemia type 2 603471|C538053||autosomal dominant retinoschisis 603471|C538053||citrin deficiency 603471|C538053||citrullinemia type ii adult onset 603471|C538053||ctln2 603471|C538053||retinoschisis autosomal dominant 300310|C538057||agammaglobulinemia x linked type 2 300310|C538057||agmx2 300310|C538057||xla2 D004314|190685||down syndrome D004314|190685||47 xx 21 D004314|190685||47 xy 21 D004314|190685||dcr included D004314|190685||down apos s syndrome D004314|190685||downs syndrome D004314|190685||down syndrome chromosome region included D004314|190685||down syndrome critical region included D004314|190685||down syndrome partial trisomy 21 D004314|190685||dscr included D004314|190685||leukemia megakaryoblastic of down syndrome included D004314|190685||mongolism D004314|190685||partial trisomy 21 down syndrome D004314|190685||syndrome down D004314|190685||syndrome down apos s D004314|190685||transient myeloproliferative disorder of down syndrome included D004314|190685||trisomy 21 D004314|190685||trisomy 21 included D004314|190685||trisomy 21 meiotic nondisjunction D004314|190685||trisomy 21 mitotic nondisjunction D004314|190685||trisomy g C567423|612089||hypophosphatemic rickets and hyperparathyroidism C567449|611955||prostate cancer hereditary 11 C567449|611955||hpc11 C562746|608051||macular dystrophy retinal 2 C562746|608051||mcdr2 D018746||systemic inflammatory response syndrome D018746||inflammatory response syndrome systemic D018746||sepsis syndrome D018746||sepsis syndromes D018746||syndrome sepsis D018746||syndromes sepsis C566700||hypermethioninemia with deficiency of s adenosylhomocysteine hydrolase C566702||parotid aplasia or hypoplasia C566708||rhiny C566709||rhabdomyosarcoma embryonal 2 C566703||lacrimal puncta absence of C564590|607324||polydactyly postaxial type a3 C564590|607324||papa3 C564590|607324||postaxial polydactyly type a3 D017436|147950||kallmann syndrome D017436|147950||anosmic hypogonadism D017436|147950||anosmic hypogonadisms D017436|147950||anosmic idiopathic hypogonadotropic hypogonadism D017436|147950||autosomal dominant form of kallmann syndrome D017436|147950||autosomal recessive form of kallmann syndrome D017436|147950||dysplasia olfactogenitalis of de morsier D017436|147950||hh1 D017436|147950||hh2 D017436|147950||hh3 D017436|147950||hh4 D017436|147950||hh5 D017436|147950||hh6 D017436|147950||hha D017436|147950||hypogonadism anosmic D017436|147950||hypogonadisms anosmic D017436|147950||hypogonadotropic hypogonadism 1 with or without anosmia D017436|147950||hypogonadotropic hypogonadism 2 with or without anosmia D017436|147950||hypogonadotropic hypogonadism 3 with or without anosmia D017436|147950||hypogonadotropic hypogonadism 4 with or without anosmia D017436|147950||hypogonadotropic hypogonadism 5 with or without anosmia D017436|147950||hypogonadotropic hypogonadism 6 with or without anosmia D017436|147950||hypogonadotropic hypogonadism and anosmia D017436|147950||hypogonadotropic hypogonadism anosmia and midline cranial anomalies cleft lip cleft palate and imperfect fusion D017436|147950||hypogonadotropic hypogonadism anosmia syndrome D017436|147950||kal1 D017436|147950||kal2 D017436|147950||kallmann apos s syndrome D017436|147950||kallmanns syndrome D017436|147950||kallmann syndrome 1 D017436|147950||kallmann syndrome 2 D017436|147950||kallmann syndrome 3 D017436|147950||kallmann syndrome type 1 x linked D017436|147950||kallmann syndrome type 3 recessive D017436|147950|C537705|147920||kms D017436|147950||syndrome kallmann D017436|147950||syndrome kallmann apos s C565342|605309||macrocephaly autism syndrome 300071|C536122||night blindness congenital stationary type 2a 300071|C536122||csnb2 300071|C536122||csnb2a 300071|C536122||csnb incomplete x linked 300071|C536122||night blindness congenital stationary type 2 D054198|613065||precursor cell lymphoblastic leukemia lymphoma D054198|613065||acute lymphoblastic leukemia D054198|613065||acute lymphocytic leukemia D054198|613065||acute lymphoid leukemia D054198|613065||all D054198|613065||all1 included D054198|613065||all2 D054198|613065||all childhood D054198|613065||childhood all D054198|613065||l1 lymphocytic leukemia D054198|613065||l2 lymphocytic leukemia D054198|613065||leukemia acute lymphoblastic D054198|613065||leukemia acute lymphoblastic b hyperdiploid susceptibility to included D054198|613065||leukemia acute lymphoblastic susceptibility to 1 included D054198|613065||leukemia acute lymphoblastic susceptibility to 2 D054198|613065||leukemia acute lymphocytic D054198|613065||leukemia acute lymphocytic susceptibility to 1 included D054198|613065||leukemia acute lymphocytic susceptibility to 2 D054198|613065||leukemia acute lymphoid D054198|613065||leukemia b cell acute lymphoblastic susceptibility to included D054198|613065||leukemia l1 lymphocytic D054198|613065||leukemia l2 lymphocytic D054198|613065||leukemia lymphoblastic D054198|613065||leukemia lymphoblastic acute D054198|613065||leukemia lymphoblastic acute l1 D054198|613065||leukemia lymphoblastic acute l2 D054198|613065||leukemia lymphoblastic acute philadelphia positive D054198|613065||leukemia lymphocytic acute D054198|613065||leukemia lymphocytic acute l1 D054198|613065||leukemia lymphocytic acute l2 D054198|613065||leukemia lymphoid acute D054198|613065||leukemia t cell acute lymphoblastic susceptibility to included D054198|613065||lymphoblastic leukemia D054198|613065||lymphoblastic leukemia acute D054198|613065||lymphoblastic leukemia acute adult D054198|613065||lymphoblastic leukemia acute childhood D054198|613065||lymphoblastic leukemia acute l1 D054198|613065||lymphoblastic leukemia acute l2 D054198|613065||lymphoblastic lymphoma D054198|613065||lymphocytic leukemia acute D054198|613065||lymphocytic leukemia l1 D054198|613065||lymphocytic leukemia l2 D054198|613065||lymphoid leukemia acute D054198|613065||lymphoma lymphoblastic C563763|609254||senior loken syndrome 5 C563763|609254||slsn5 D018754||ventricular dysfunction D018754||dysfunctions ventricular D018754||dysfunction ventricular D018754||ventricular dysfunctions 613091||short rib thoracic dysplasia 3 with or without polydactyly 613091|C567761||asphyxiating thoracic dystrophy 3 613091||atd3 613091|D012779|263520||polydactyly with neonatal chondrodystrophy type i 613091|C537602||polydactyly with neonatal chondrodystrophy type iii 613091|D012779|263520||saldino noonan syndrome 613091|D012779|263520||short rib polydactyly syndrome type i 613091||short rib polydactyly syndrome type iib 613091|C537602||short rib polydactyly syndrome type iii 613091||srps1 613091||srps2b 613091||srps3 613091||srtd3 613091|C537602||verma naumoff syndrome 613092|C567760||hyperuricemic nephropathy familial juvenile 2 613092|C567760||early onset hyperuricemia anemia and progressive kidney failure 613092|C567760||hnfj2 604168|C565822||congenital cataracts facial dysmorphism and neuropathy 604168|C565822||cataract congenital with facial dysmorphism and neuropathy 604168|C565822||ccfdn 613099||melanoma cutaneous malignant susceptibility to 5 613099||cmm5 D005413||flatfoot D005413||feet flat D005413||flatfeet D005413||flat feet D005413||flat foot D005413||foot flat D005413||pes planus 313350|C564056||split hand foot malformation 2 313350||shfd2 313350||shfm2 313350||shsf2 313350|C564056||split hand foot deformity 2 313350|C564056||split hand split foot anomaly x linked 214100|D015211||zellweger syndrome 214100|D015211||cerebrohepatorenal syndrome 214100|D015211||cerebro hepato renal syndrome 214100|D015211||cerebrohepatorenal syndrome chr peroxisome biogenesis disorder complementation group 1 included 214100|D015211||cg1 included 214100|D015211||cge included 214100|D015211||pbd1a 214100|D015211||pbd zss 214100|D015211||peroxisome biogenesis disorder 1a zellweger 214100|D015211||peroxisome biogenesis disorder complementation group e included 214100|D015211||peroxisome biogenesis disorders zellweger syndrome spectrum 214100|D015211||spectrum zellweger 214100|D015211||zellweger disease 214100|D015211||zellweger like syndrome 214100|D015211||zellweger spectrum 214100|D015211||zellweger apos s syndrome 214100|D015211||zellweger syndrome spectrum 214100|D015211||zs 214100|D015211||zws D005414||flatulence D005414||flatus D017827|109150||machado joseph disease D017827|109150||3 spinocerebellar ataxia D017827|109150||3s spinocerebellar ataxia D017827|109150||ataxia 3 spinocerebellar D017827|109150||ataxia 3s spinocerebellar D017827|109150||atrophy iii spinocerebellar D017827|109150||atrophy iiis spinocerebellar D017827|109150||autosomal dominant striatonigral degeneration D017827|109150||azorean ataxia D017827|109150||azorean disease D017827|109150||azorean disease machado joseph D017827|109150||azorean disease nervous system D017827|109150||azorean neurologic disease D017827|109150||degeneration nigrospinodentatal D017827|109150||degenerations nigrospinodentatal D017827|109150||disease azorean D017827|109150||disease azorean machado joseph D017827|109150||disease azorean neurologic D017827|109150||disease joseph D017827|109150||disease joseph azorean D017827|109150||disease machado joseph D017827|109150||disease machado joseph azorean D017827|109150||iii spinocerebellar atrophy D017827|109150||iiis spinocerebellar atrophy D017827|109150||joseph azorean disease D017827|109150||joseph disease D017827|109150||machado joseph azorean disease D017827|109150||machado joseph disease type i D017827|109150||machado joseph disease type ii D017827|109150||machado joseph disease type iii D017827|109150||machado joseph disease type iv D017827|109150||mjd D017827|109150||nervous system azorean disease D017827|109150||neurologic disease azorean D017827|109150||nigrospinodentatal degeneration D017827|109150||nigrospinodentatal degenerations D017827|109150||sca3 D017827|109150||spinocerebellar ataxia 3 D017827|109150||spinocerebellar ataxia 3s D017827|109150||spinocerebellar ataxia type 3 D017827|109150||spinocerebellar atrophy iii D017827|109150||spinocerebellar atrophy iiis D017827|109150||spinocerebellar atrophy type 3 D017827|109150||striatonigral degeneration autosomal dominant D017827|109150||type 3 spinocerebellar ataxia D017827|109150||type iii machado joseph disease D017827|109150||type ii machado joseph disease D017827|109150||type i machado joseph disease D017827|109150||type iv machado joseph disease C565207|610265||deafness autosomal recessive 67 C565207|610265||dfnb67 C567338|612354||inflammatory bowel disease 21 C567338|612354||ibd21 C537758|602722||renal tubular acidosis distal autosomal recessive C537758|602722||autosomal recessive distal renal tubular acidosis C537758|602722||renal tubular acidosis autosomal recessive with preserved hearing C537758|602722||renal tubular acidosis autosomal recessive with preserved hearing renal tubular acidosis distal autosomal recessive with late onset sensorineural hearing loss included C537758|602722||rta distal autosomal recessive C537758|602722||rtadr 142669|C564185||hip dysplasia beukes type 142669|C564185||beukes familial hip dysplasia 142669|C564185||bfhd 142669|C564185|135150|D058249||bhd 142669|C564185||osteoarthropathy premature degenerative of hip C562625|130060||ehlers danlos syndrome type vii autosomal dominant C562625|130060||arthrochalasis multiplex congenita C562625|130060||eds7a C562625|130060||eds7b included C562625|130060||eds viia C562625|130060||eds vii mutant procollagen type C562625|130060||eds vii mutant procollagen type eds viib included C562625|130060||ehlers danlos syndrome arthrochalasia type 610253|C563043||kleefstra syndrome 610253|C563043||9q34 3 deletion syndrome 610253|C563043||9q34 3 microdeletion syndrome 610253|C563043||9q subtelomeric deletion syndrome 610253|C563043||9q syndrome 610253|C563043||chromosome 9q34 3 deletion syndrome 300049|D054091||heterotopia periventricular x linked dominant 300049||bpnh heterotopia periventricular nodular with frontometaphyseal dysplasia included 300049|D054091||heterotopia familial nodular 300049||nhbp 300049|D054091||nodular heterotopia bilateral periventricular 300049|D054091||periventricular nodular heterotopia 1 300049||pvnh1 C566932|611494||atrial fibrillation familial 5 C566932|611494||atfb5 613085||glaucoma 3 primary congenital c 613085||glc3c 300510|C564499||ovarian dysgenesis 2 300510|C564499||odg2 300510|C564499||ovarian dysgenesis hypergonadotropic x linked 300510|C564499||ovarian failure hypergonadotropic due to ovarian dysgenesis 300510|C564499||ovarian failure hypergonadotropic due to ovarian dysgenesis premature ovarian failure 4 included 300510|C564499||pof4 included 300510|C564499||premature ovarian failure 4 C566593|602014||hypomagnesemia 1 intestinal C566593|602014||homg C566593|602014||homg1 C566593|602014||hsh C566593|602014||hypomagnesemia intestinal with secondary hypocalcemia C566593|602014||hypomagnesemia with secondary hypocalcemia C566593|602014||hypomagnesemic tetany C565386|251120||methylmalonyl coa epimerase deficiency C565386|251120||methylmalonic aciduria iii formerly methylmalonyl coa epimerase deficiency with sepiapterin reductase deficiency included C565386|251120||methylmalonyl coa racemase deficiency C563757|609260||charcot marie tooth disease axonal type 2a2 C563757|609260||charcot marie tooth disease axonal autosomal dominant type 2a2 C563757|609260||charcot marie tooth disease neuronal type 2a2 C563757|609260||charcot marie tooth neuropathy type 2a2 C563757|609260||cmt2a2 C563757|609260||hereditary motor and sensory neuropathy iia2 C563757|609260||hmsn2a2 C563757|609260||hmsniia2 C563757|609260||hmsn iia2 D001506|130650||beckwith wiedemann syndrome D001506|130650||bwcr included D001506|130650||bws D001506|130650||emg syndrome D001506|130650||emg syndromes D001506|130650||exomphalos macroglossia gigantism syndrome D001506|130650||syndrome beckwith wiedemann D001506|130650||syndrome emg D001506|130650||syndromes emg D001506|130650||syndromes wiedemann beckwith wbs D001506|130650||syndrome wiedemann beckwith D001506|130650||syndrome wiedemann beckwith wbs D001506|130650||wiedemann beckwith syndrome D001506|130650||wiedemann beckwith syndromes wbs D001506|130650||wiedemann beckwith syndrome wbs D001506|130650||wiedemann beckwith syndrome wbs beckwith wiedemann syndrome chromosome region included C535697|600467||malignant hyperthermia susceptibility type 4 C535697|600467||malignant hyperpyrexia susceptibility type 4 C535697|600467||malignant hyperthermia susceptibility to 4 C535697|600467||mhs4 D059325||intra abdominal hypertension D059325||abdominal compartment syndrome D059325||abdominal compartment syndromes D059325||compartment syndrome abdominal D059325||compartment syndromes abdominal D059325||hypertension intraabdominal D059325||hypertension intra abdominal D059325||hypertensions intraabdominal D059325||hypertensions intra abdominal D059325||intraabdominal hypertension D059325||intraabdominal hypertensions D059325||intra abdominal hypertensions D059325||syndrome abdominal compartment D059325||syndromes abdominal compartment C567508|611876||brugada syndrome 4 C567508|611876||brgda4 D056889|302060||barth syndrome D056889|302060||3 methylglutaconicaciduria type 2 D056889|302060||3 methylglutaconicaciduria type 2s D056889|302060||3 methylglutaconicaciduria type ii D056889|302060||3 methylglutaconic aciduria type ii D056889|302060||3 methylglutaconicaciduria type iis D056889|302060||bths D056889|302060||cardioskeletal myopathy with neutropenia and abnormal mitochondria D056889|302060||mga2 D056889|302060||mga type 2 D056889|302060||mga type 2s D056889|302060||mga type ii D056889|302060||mga type iis D056889|302060||mgca2 D056889|302060||syndrome barth D056889|302060||type 2 3 methylglutaconicaciduria D056889|302060||type 2 mga D056889|302060||type 2s mga D056889|302060||type ii mga D056889|302060||type iis mga 612526|C567282||lipodystrophy congenital generalized type 3 612526|C567282||berardinelli seip congenital lipodystrophy type 3 612526|C567282||bscl3 612526|C567282||cgl3 612526|C567282||lipodystrophy berardinelli seip congenital type 3 609821||bleeding disorder platelet type 8 609821||bdplt8 609821||bleeding disorder due to p2ry12 defect bleeding disorder due to p2rx1 defect somatic included D059327||brachydactyly D059327||brachydactylia D059327||brachydactylias D059327||brachydactylies D059327||brachydactylism D059327||brachydactylisms 613070||liver failure infantile transient 613070||lfit D000141|179800||acidosis renal tubular D000141|179800||acidosis renal tubular type i D000141|179800||acidosis renal tubular type ii D000141|179800||autosomal dominant distal renal tubular acidosis D000141|179800||classic distal renal tubular acidosis D000141|179800||classic type rta D000141|179800||classic type rtas D000141|179800||distal renal tubular acidosis D000141|179800||gradient type rta D000141|179800||gradient type rtas D000141|179800||proximal renal tubular acidosis D000141|179800||proximal type rta D000141|179800||proximal type rtas D000141|179800||renal tubular acidosis D000141|179800||renal tubular acidosis 1 D000141|179800||renal tubular acidosis distal autosomal dominant D000141|179800||renal tubular acidosis i D000141|179800||renal tubular acidosis ii D000141|179800||renal tubular acidosis proximal D000141|179800||renal tubular acidosis proximal with ocular abnormalities D000141|179800||renal tubular acidosis type i D000141|179800||renal tubular acidosis type ii D000141|179800||rta classic type D000141|179800||rta distal type autosomal dominant D000141|179800||rta gradient type D000141|179800||rta proximal type D000141|179800||rtas classic type D000141|179800||rtas gradient type D000141|179800||rtas proximal type D000141|179800||type ii renal tubular acidosis D000141|179800||type i renal tubular acidosis 613074||deafness autosomal dominant 50 613074||dfna50 D006725||hookworm infections D006725||bunostomiases D006725||bunostomiasis D006725||hookworm infection D006725||infection hookworm D006725||infections hookworm D006726||hordeolum D006726||stye D006726||styes 270600|C537481||spastic diplegia infantile type 270600|C537481||hereditary spastic diplegia with mental retardation C565206|610282||retinitis pigmentosa 35 C565206|610282||rp35 C564652|606854||polymicrogyria bilateral frontoparietal C564652|606854||bfpp C564652|606854||cerebellar ataxia with neuronal migration defect C536648|274600||pendred syndrome C536648|274600||autosomal recessive sensorineural hearing impairment and goiter C536648|274600||deafness with goiter C536648|274600||goiter deafness syndrome C536648|274600||hypothyroidism congenital due to dyshormonogenesis 2b C536648|274600||pendred apos s syndrome C536648|274600||tdh2b C536648|274600||thyroid dyshormonogenesis 2b C536648|274600||thyroid hormonogenesis genetic defect in 2b C567208|612653||spherocytosis type 4 C567208|612653||hs4 C567208|612653||sph4 C567208|612653||spherocytosis hereditary 4 D018701||mononegavirales infections D018701||infection mononegavirales D018701||infections mononegavirales D018701||mononegavirales infection 162100|D020968||brachial plexus neuritis 162100|D020968||amyotrophic neuralgia 162100|D020968||amyotrophic neuralgias 162100|D020968||amyotrophies hereditary neuralgic 162100|D020968||amyotrophies neuralgic 162100|D020968||amyotrophy hereditary neuralgic 162100|D020968||amyotrophy hereditary neuralgic with predilection for brachial plexus 162100|D020968||amyotrophy neuralgic 162100|D020968||brachial neuralgia 162100|D020968||brachial neuralgias 162100|D020968||brachial neuritides 162100|D020968||brachial neuritis 162100|D020968||brachial plexus neuritides 162100|D020968||brachial plexus neuropathy hereditary 162100|D020968||cervicobrachial neuralgia 162100|D020968||cervico brachial neuralgia 162100|D020968||cervicobrachial neuralgias 162100|D020968||cervico brachial neuralgias 162100|D020968||familial brachial plexus neuritis 162100|D020968||girdle neuropathies shoulder 162100|D020968||girdle neuropathy shoulder 162100|D020968||hereditary brachial plexus neuropathy 162100|D020968||hereditary neuralgic amyotrophies 162100|D020968||hereditary neuralgic amyotrophy 162100|D020968||heredofamilial neuritis with brachial plexus predilection 162100|D020968||hna 162100|D020968||napb 162100|D020968||neuralgia amyotrophic 162100|D020968||neuralgia brachial 162100|D020968||neuralgia cervicobrachial 162100|D020968||neuralgia cervico brachial 162100|D020968||neuralgias amyotrophic 162100|D020968||neuralgias brachial 162100|D020968||neuralgias cervicobrachial 162100|D020968||neuralgias cervico brachial 162100|D020968||neuralgic amyotrophies 162100|D020968||neuralgic amyotrophies hereditary 162100|D020968||neuralgic amyotrophy 162100|D020968||neuralgic amyotrophy hereditary 162100|D020968||neuritides brachial 162100|D020968||neuritides brachial plexus 162100|D020968||neuritis brachial 162100|D020968||neuritis brachial plexus 162100|D020968||neuritis with brachial predilection 162100|D020968||neuropathies shoulder girdle 162100|D020968||neuropathy shoulder girdle 162100|D020968||parsonage aldren turner syndrome 162100|D020968||parsonage turner syndrome 162100|D020968||shoulder girdle neuropathies 162100|D020968||shoulder girdle neuropathy 162100|D020968||syndrome parsonage aldren turner 162100|D020968||syndrome parsonage turner D018702||filoviridae infections D018702||filoviridae infection D018702||infection filoviridae D018702||infections filoviridae 609813||scdo3 D005409||flail chest D005409||chest flail D005409||chest stove in D005409||stove in chest D005402||fistula D005402||fistulas D006734||horse diseases D006734||disease equine D006734||disease horse D006734||diseases equine D006734||diseases horse D006734||equine disease D006734||equine diseases D006734||horse disease D005401||fissure in ano D005401||anal fissure D005401||anal ulcer D005401||anal ulcers D005401||fissure anal D005401||ulcer anal D005401||ulcers anal D006732||horner syndrome D006732||acquired horner syndrome D006732||bernard apos s syndrome D006732||bernards syndrome D006732||bernard syndrome D006732||bernard syndromes D006732||central horner syndrome D006732||claude bernard horner syndrome D006732||horner apos s syndrome D006732||horners syndrome D006732||horner apos s syndrome pupil D006732||horners syndrome pupil D006732||horner syndrome acquired D006732||horner syndrome central D006732||horner syndrome pupil D006732||miosis innervational defect D006732||ocular ophthalmoplegias sympathetic D006732||ocular ophthalmoplegia sympathetic D006732||oculosympathetic syndrome D006732||oculosympathetic syndromes D006732||ophthalmoplegias sympathetic ocular D006732||ophthalmoplegia sympathetic ocular D006732||ptosis sympathetic D006732||pupil horner apos s syndrome D006732||sympathetic ocular ophthalmoplegia D006732||sympathetic ocular ophthalmoplegias D006732||syndrome acquired horner D006732||syndrome bernard D006732||syndrome bernard apos s D006732||syndrome central horner D006732||syndrome claude bernard horner D006732||syndrome horner D006732||syndrome horner apos s D006732||syndrome oculosympathetic D006732||syndrome pupil horner apos s D006732||syndromes bernard D006732||syndromes oculosympathetic D059350||chronic pain D059350||chronic pains D059350||chronic pains widespread D059350||chronic pain widespread D059350||pain chronic D059350||pains chronic D059350||pains widespread chronic D059350||pain widespread chronic D059350||widespread chronic pain D059350||widespread chronic pains D059345||cerebral small vessel diseases D059345||cerebral microangiopathies D059345||cerebral microangiopathy D059345||cerebral small vessel disease D059345||microangiopathies cerebral D059345||microangiopathy cerebral D059348||peripheral nerve injuries D059348||injuries peripheral nerve D059348||injury peripheral nerve D059348||nerve injuries peripheral D059348||nerve injury peripheral D059348||peripheral nerve injury D059347||cardio renal syndrome D059347||cardiorenal syndrome D059347||cardiorenal syndromes D059347||cardio renal syndromes D059347||renocardiac syndrome D059347||reno cardiac syndrome D059347||renocardiac syndromes D059347||reno cardiac syndromes D059347||syndrome cardiorenal D059347||syndrome cardio renal D059347||syndrome renocardiac D059347||syndrome reno cardiac D059347||syndromes cardiorenal D059347||syndromes cardio renal D059347||syndromes renocardiac D059347||syndromes reno cardiac D056728|613554||von willebrand disease type 2 D056728|613554||type 2a von willebrand disease D056728|613554||type 2b von willebrand disease D056728|613554||type 2m von willebrand disease D056728|613554||type 2n von willebrand disease D056728|613554||type 2 von willebrand disease D056728|613554||type iia von willebrand disease D056728|613554||type iib von willebrand disease D056728|613554||type iim von willebrand disease D056728|613554||type iin von willebrand disease D056728|613554||type ii von willebrand disease D056728|613554||von willebrand disease type 2a D056728|613554||von willebrand disease type 2b D056728|613554||von willebrand disease type 2b included D056728|613554||von willebrand disease type 2m D056728|613554||von willebrand disease type 2m included D056728|613554||von willebrand disease type 2n D056728|613554||von willebrand disease type 2n included D056728|613554||von willebrand disease type ii D056728|613554||von willebrand disease type iia D056728|613554||von willebrand disease type iib D056728|613554||von willebrand disease type iim D056728|613554||von willebrand disease type iin D056728|613554||vwd2 D056728|613554||vwd2a included D056728|613554||vwd2b included D056728|613554||vwd2m included D056728|613554||vwd2n included D056728|613554||vwd type 2 von willebrand disease type 2a included 209880|C536209||congenital central hypoventilation syndrome 209880|C536209||autonomic control congenital failure of 209880|C536209||cchs 209880|C536209||cchs with hirschsprung disease 209880|C536209||cchs with hirschsprung disease included 209880|C536209||central hypoventilation syndrome congenital 209880|C536209||congenital failure of autonomic control 209880|C536209||congenital ondine curse 209880|C536209||haddad syndrome 209880|C536209||haddad syndrome included 209880|C536209||idiopathic congenital central alveolar hypoventilation 209880|C536209||ohd included 209880|C536209||ondine curse congenital 209880|C536209||ondine curse congenital ondine hirschsprung disease included 209880|C536209||ondine hirschsprung disease 209880|C536209||primary alveolar hypoventilation 300114||mental retardation x linked 49 300114||mrx49 C537333|300263||siderius x linked mental retardation syndrome C537333|300263||mental retardation x linked siderius type C537333|300263||mental retardation x linked syndromic siderius type C537333|300263||mrxssd C537333|300263||siderius hamel syndrome C536398|605814||neonatal onset citrullinemia type 2 C536398|605814||cholestasis neonatal intrahepatic caused by citrin deficiency C536398|605814||citrullinemia type ii neonatal onset C536398|605814||neonatal intrahepatic cholestasis caused by citrin deficiency C536398|605814||neonatal onset citrullinemia type ii C536398|605814||niccd C564258|608320||coronary artery disease autosomal dominant 1 C564258|608320||adcad1 C564258|608320||coronary artery disease with myocardial infarction 248510|C538599||lysosomal beta mannosidase deficiency 248510|C538599||mansb C536253|604416||pyogenic arthritis pyoderma gangrenosum and acne C536253|604416||familial recurrent arthritis C536253|604416||fra C536253|604416||papas C536253|604416||papa syndrome C536253|604416||pyogenic arthritis pyoderma gangrenosum and severe cystic acne C536253|604416||pyogenic sterile arthritis pyoderma gangrenosum and acne D018804||hantavirus pulmonary syndrome D018804||hantavirus associated respiratory distress syndrome D018804||hantavirus pulmonary syndromes D018804||hards C567372|612278||inflammatory bowel disease 19 C567372|612278||ibd19 D018805||sepsis D018805||blood poisoning D018805||blood poisonings D018805||poisoning blood D018805||poisonings blood D018805||pyaemia D018805||pyaemias D018805||pyemia D018805||pyemias D018805||pyohemia D018805||pyohemias D018805||sepsis severe D018805||septicemia D018805||septicemias D018805||severe sepsis D017889|177650||exfoliation syndrome D017889|177650||exfoliation glaucoma D017889|177650||exfoliation syndromes D017889|177650||exfoliative syndrome D017889|177650||exfoliative syndromes D017889|177650||glaucoma capsulare D017889|177650||pexg D017889|177650||pexs D017889|177650||pseudoexfoliation glaucoma D017889|177650||pseudoexfoliation of the lens D017889|177650||pseudoexfoliation syndrome D017889|177650||pseudo exfoliation syndrome D017889|177650||pseudoexfoliation syndromes D017889|177650||pseudo exfoliation syndromes D017889|177650||syndrome exfoliation D017889|177650||syndrome exfoliative D017889|177650||syndrome pseudoexfoliation D017889|177650||syndrome pseudo exfoliation D017889|177650||syndromes exfoliation D017889|177650||syndromes exfoliative D017889|177650||syndromes pseudoexfoliation D017889|177650||syndromes pseudo exfoliation D017889|177650||xfg D017889|177650||xfs C536088|146590||ichthyosis hystrix curth macklin type C536088|146590||curth macklin type ichthyosis hystrix C536088|146590||ihcm D047268||lingual goiter D047268||goiter lingual D047268||goiters lingual D047268||lingual goiters 300125||migraine familial typical susceptibility to 2 300125||mfts 300125||mgr2 D006837||hydroa vacciniforme D006833||hydrarthrosis D006833||hydrarthroses D006831||polyhydramnios D006831||hydramnios D006832||hydranencephaly D006832||absence of cerebral hemispheres congenital D006832||cerebral hemispheres absence congenital D006832||congenital absence of cerebral hemispheres D006832||hemihydranencephalies D006832||hemihydranencephaly D006832||hydranencephalies D006832||hydranencephaly with proliferative vasculopathy C567728|613148||inflammatory bowel disease 28 autosomal recessive C567728|613148||ibd28 C567728|613148|612567|C567251||inflammatory bowel disease early onset autosomal recessive 253290|C537377|265000||multiple pterygium syndrome lethal type 253290||lmps 253290|C537377|265000||pterygium syndrome multiple lethal type C565312|605635||hyperaldosteronism familial type ii C565312|605635||fh ii C564715|300088||epilepsy female restricted with mental retardation C564715|300088||convulsive disorder and mental retardation C564715|300088||efmr C564715|300088||eiee9 C564715|300088||epileptic encephalopathy early infantile 9 C564715|300088||juberg hellman syndrome D059246||tachypnea D059246||tachypneas D059249||otomycosis D059249||otomycoses C563144|300046||mental retardation x linked 23 C563144|300046||mrx23 D029461|269920||sialic acid storage disease D029461|269920||finnish type sialuria D029461|269920||finnish type sialurias D029461|269920||french type sialuria D029461|269920||infantile form sialuria D029461|269920||infantile form sialurias D029461|269920||infantile sialic acid storage disease D029461|269920||infantile sialic acid storage disorder D029461|269920||infantile sialic acid storage disorder issd D029461|269920||issd D029461|269920|C535525||n acetylneuraminic acid storage disease D029461|269920|C535525||nana storage disease D029461|269920||nsd D029461|269920||salla disease D029461|269920||sd D029461|269920||sialic acid storage disease finnish type D029461|269920||sialic acid storage disease infantile form D029461|269920||sialuria D029461|269920||sialuria finnish type D029461|269920|C537332||sialuria french type D029461|269920||sialuria infantile form D029461|269920||sialurias D029461|269920||sialurias finnish type D029461|269920||sialurias infantile form D059245||transient tachypnea of the newborn D059245||newborn transient tachypnea D059245||newborn transient tachypneas D059245||transient tachypnea of newborn C566451|610069||polyposis syndrome hereditary mixed 2 C566451|610069||hmps2 C566337|603776||hypercholesterolemia autosomal dominant 3 C566337|603776||fh3 C566337|603776||fh3 low density lipoprotein cholesterol level quantitative trait locus 1 included C566337|603776||hchola3 C566337|603776||ldlcq1 included D006800||deltaretrovirus infections D006800||blv infection D006800||blv infections D006800||deltaretrovirus infection D006800||htlv blv infection D006800||htlv blv infections D006800||htlv infection D006800||htlv infections D006800||infection deltaretrovirus D006800||infections deltaretrovirus C535740|602579||congenital disorder of glycosylation type 1b C535740|602579||carbohydrate deficient glycoprotein syndrome type 1b C535740|602579||cdg1b C535740|602579||cdg gastrointestinal type C535740|602579||cdgib C535740|602579||cdg ib C535740|602579||congenital disorder of glycosylation type ib C535740|602579||mannosephosphate isomerase deficiency C535740|602579||mpi deficiency C535740|602579||protein losing enteropathy hepatic fibrosis syndrome C535740|602579||saguenay lac saint jean syndrome C535740|602579||slsj syndrome C536917|275100||hypothyroidism congenital nongoitrous 4 C536917|275100||chng4 C536917|275100||congenital nongoitrous hypothyroidism 4 C536917|275100||pituitary cretinism C536917|275100||pituitary cretinism thyrotropin biologically inactive included C536917|275100||thyroid stimulating hormone deficiency C536917|275100||thyroid stimulating hormone deficiency of C536917|275100||thyrotropin deficiency isolated C536917|275100||tsh deficiency C565876|212550||microphthalmia isolated with cataract 2 C565876|212550||mcopct2 C565876|212550||microphthalmia and cataract 2 C565876|212550||microphthalmia cataract and nystagmus C562889|161900||renal failure progressive with hypertension C562889|161900||aorf C562889|161900||nephritis familial without deafness or ocular defect C562889|161900||nephropathy familial C562889|161900||renal failure adult onset C562889|161900||rfh1 607155||muscular dystrophy dystroglycanopathy limb girdle type c 5 607155|C564612||lgmd2i 607155||mddgc5 607155||muscular dystrophy dystroglycanopathy limb girdle frkp related 607155|C564612||muscular dystrophy limb girdle type 2i D009083||mucopolysaccharidoses D009083||mucopolysaccharidosis D009080||kawasaki syndrome D009080||lymph node syndrome mucocutaneous D006819||hyaline membrane disease D006819||disease hyaline membrane D006819||diseases hyaline membrane D006819||hyaline membrane diseases 606812|C538191||fumaric aciduria 606812|C538191||fumarase deficiency 606812|C538191||fumarate hydratase deficiency 606812|C538191||fumaricaciduria C562649|226200||enterokinase deficiency C562649|226200||enteropeptidase deficiency C567388|612241||inflammatory bowel disease 12 C567388|612241||ibd12 C566946|608526||periodontitis aggressive 2 C563320|601414||retinitis pigmentosa 18 C563320|601414||rp18 126200|D009103||multiple sclerosis 126200|D009103||disseminated sclerosis 126200|D009103||disseminated sclerosis multiple sclerosis susceptibility to 1 included 126200|D009103||ms 126200|D009103||ms1 included 126200|D009103||ms2 126200|D009103||ms3 126200|D009103||ms4 126200|D009103||ms multiple sclerosis 126200|D009103||multiple sclerosis acute fulminating 126200|D009103||multiple sclerosis susceptibility to 126200|D009103||multiple sclerosis susceptibility to 2 126200|D009103||multiple sclerosis susceptibility to 3 126200|D009103||multiple sclerosis susceptibility to 4 126200|D009103||sclerosis disseminated 126200|D009103||sclerosis multiple C564533|300324||mental retardation x linked 53 C564533|300324||mrx53 D006810||humeral fractures D006810||fracture humeral D006810||fractures humeral D006810||humeral fracture D059270||petrositis D059270||apicitides petrous D059270||apicitis petrous D059270||gradenigo lannois syndrome D059270||gradenigo apos s syndrome D059270||gradenigos syndrome D059270||gradenigo syndrome D059270||petrositides D059270||petrous apicitides D059270||petrous apicitis D059270||syndrome gradenigo D059270||syndrome gradenigo lannois D059270||syndrome gradenigo apos s D059269||chilaiditi syndrome D059269||anomaly chilaiditi D059269||anomaly chilaiditi apos s D059269||chilaiditi anomaly D059269||chilaiditi apos s anomaly D059269||chilaiditis anomaly D059269||chilaiditi apos s syndrome D059269||chilaiditis syndrome D059269||syndrome chilaiditi D059269||syndrome chilaiditi apos s D010004|119900||osteoarthropathy primary hypertrophic D010004|119900||acropachies hereditary D010004|119900||acropachy hereditary D010004|119900||autosomal dominant pachydermoperiostoses D010004|119900||autosomal dominant pachydermoperiostosis D010004|119900||autosomal recessive pachydermoperiostosis D010004|119900||clubbing of digits D010004|119900||cranioosteoarthropathies D010004|119900||cranioosteoarthropathy D010004|119900||currarino idiopathic osteoarthropathy D010004|119900||digital clubbing isolated congenital D010004|119900||familial idiopathic osteoarthropathy of childhood D010004|119900||hereditary acropachies D010004|119900||hereditary acropachy D010004|119900||hypertrophic osteoarthropathy idiopathic D010004|119900||hypertrophic osteoarthropathy primary D010004|119900||hypertrophic osteoarthropathy primary autosomal dominant D010004|119900||hypertrophic osteoarthropathy primary autosomal recessive D010004|119900||idiopathic hypertrophic osteoarthropathy D010004|119900||osteoarthropathy currarino idiopathic D010004|119900||osteoarthropathy idiopathic hypertrophic D010004|119900||pachydermoperiostoses autosomal dominant D010004|119900||pachydermoperiostosis D010004|119900||pachydermoperiostosis autosomal dominant D010004|119900|259100||pachydermoperiostosis autosomal recessive D010004|119900||primary hypertrophic osteoarthropathy D010004|119900||primary hypertrophic osteoarthropathy autosomal dominant D010004|119900||recessive pachydermoperiostosis autosomal D010004|119900||touraine solente gole syndrome D059268||atrophic vaginitis D059268||atrophic vaginitides D059268||vaginitides atrophic D059268||vaginitis atrophic D059265||visceral pain D059265||pains visceral D059265||pain visceral D059265||visceral pains D059266||bisphosphonate associated osteonecrosis of the jaw D059266||bisphosphonate associated osteonecroses D059266||bisphosphonate associated osteonecrosis D059266||bisphosphonate associated osteonecrosis of the jaws D059266||bisphosphonate induced osteonecrosis of the jaw D059266||bisphosphonate induced osteonecrosis of the jaws D059266||bisphosphonate osteonecroses D059266||bisphosphonate osteonecrosis D059266||bisphosphonate related osteonecrosis of the jaw D059266||osteonecroses bisphosphonate D059266||osteonecroses bisphosphonate associated D059266||osteonecrosis bisphosphonate D059266||osteonecrosis bisphosphonate associated D059266||osteonecrosis of the jaw bisphosphonate associated D059266||osteonecrosis of the jaw bisphosphonate induced D059266||osteonecrosis of the jaw bisphosphonate related D059266||osteonecrosis of the jaws bisphosphonate associated D059266||osteonecrosis of the jaws bisphosphonate induced D059266||osteonecrosis of the jaws bisphosphonate related D009091||mucormycosis D009091||mucormycoses C535690||long chain acyl coa dehydrogenase deficiency C535690||acyl coa dehydrogenase long chain deficiency of C565267|606012||deafness autosomal dominant 18 C565267|606012||dfna18 C535692||male pseudohermaphroditism due to defective lh molecule C535693||male pseudohermaphroditism mental retardation syndrome verloes type C535693||verloes syndrome C567859|612934||glycogen storage disease xiv C567859|612934||gsd14 C567859|612934||gsd xiv C567859|612934||moved to 614921 C567859|612934||pgm1 deficiency C567859|612934||phosphoglucomutase 1 deficiency D010048||ovarian cysts D010048||corpus luteum cyst D010048||corpus luteum cysts D010048||cyst corpus luteum D010048||cyst ovarian D010048||cysts corpus luteum D010048||cysts ovarian D010048||ovarian cyst D009069||movement disorders D009069||dyskinesia lingual facial buccal D009069||dyskinesia linguofacial D009069||dyskinesia oral D009069||dyskinesia oral facial D009069||dyskinesia orofacial D009069||dyskinesias lingual facial buccal D009069||dyskinesias linguofacial D009069||dyskinesias oral D009069||dyskinesias oral facial D009069||dyskinesias orofacial D009069||dyskinesias tardive D009069||dyskinesia syndrome D009069||dyskinesia syndromes D009069||dyskinesia tardive D009069||dystonias tardive D009069||dystonia tardive D009069||etat marbre D009069||lingual facial buccal dyskinesia D009069||lingual facial buccal dyskinesias D009069||linguofacial dyskinesia D009069||linguofacial dyskinesias D009069||movement disorder D009069||movement disorder syndrome D009069||movement disorder syndromes D009069||oral dyskinesia D009069||oral dyskinesias D009069||oral facial dyskinesia D009069||oral facial dyskinesias D009069||orofacial dyskinesia D009069||orofacial dyskinesias D009069||status marmoratus D009069||tardive dyskinesia D009069||tardive dyskinesias D009069||tardive dystonia D009069||tardive dystonias D009069||tardive oral dyskinesia D009069||tardive oral dyskinesias D011378||prognathism D011378||prognathisms D010049||ovarian diseases D010049||disease ovarian D010049||diseases ovarian D010049||ovarian disease D009066||mouth edentulous D009066||edentulous mouth D009066||edentulous mouths D009066||mouth toothless D009066||toothless mouth 607134||specific language impairment 3 607134||sli3 607134||specific language impairment quantitative trait locus on chromosome 13 D009062||mouth neoplasms D009062||cancer mouth D009062||cancer of mouth D009062||cancer of the mouth D009062||cancer oral D009062||cancers mouth D009062||cancers oral D009062||mouth cancer D009062||mouth cancers D009062||mouth neoplasm D009062||neoplasm mouth D009062||neoplasm oral D009062||neoplasms mouth D009062||neoplasms oral D009062||oral cancer D009062||oral cancers D009062||oral neoplasm D009062||oral neoplasms C535688||robin sequence and oligodactyly C535688||pierre robin syndrome and oligodactyly C483996||for heavy chain disease protein human C483996||gamma 1 heavy chain disease protein for human C483997||wis heavy chain disease protein human C483997||gamma 3 heavy chain disease protein wis human C483997||myeloma protein wis human C483997||protein wis human 241520|C562792||hypophosphatemic rickets autosomal recessive 1 241520|C562792||arhp 241520|C562792||arhr 241520|C562792||arhr1 241520|C562792||hypophosphatemia autosomal recessive D011391||prolapse D011391||prolapses C483999||cha heavy chain disease protein human C483999||gamma heavy chain disease protein cha human C566955|611391||cataract cortical juvenile onset C566955|611391||cataract 33 C566955|611391||cataract 33 cortical C566955|611391||ctrct33 D009078||mucocele D009078||mucoceles 609782|C565229||aortic aneurysm familial abdominal 2 609782||aaa2 C536353|201475||vlcad deficiency C536353|201475||acadvl C536353|201475||acadvld C536353|201475||acyl coa dehydrogenase very long chain deficiency C536353|201475||acyl coa dehydrogenase very long chain deficiency of C536353|201475||pearson marrow pancreas syndrome C536353|201475||pearson apos s marrow pancreas syndrome C536353|201475||sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction C536353|201475||very long chain acyl coa dehydrogenase deficiency C536353|201475||very long chain acyl coenzyme a dehydrogenase deficiency C536353|201475||vlcad c C536353|201475||vlcad h D009072|C536991|252350||moyamoya disease D009072||cerebrovascular moyamoya disease D009072||classic moyamoya disease D009072||disease classic moyamoya D009072||disease moya moya D009072||disease primary moyamoya D009072||moya moya disease D009072||moyamoya disease classic D009072||moyamoya disease primary D009072||moyamoya disease secondary D009072||moyamoya diseases primary D009072||moyamoya syndrome D009072||primary moyamoya disease D009072||primary moyamoya diseases D009072||progressive intracranial occlusive arteropathy moyamoya D009072||secondary moyamoya disease 217080|C536604||amaurosis hypertrichosis 217080|C536604||amaurosis congenita cone rod type with congenital hypertrichosis 217080|C536604||cone rod congenital amaurosis associated with congenital hypertrichosis 217080|C536604||cone rod dystrophy and amelogenesis imperfecta 217080|C536604||congenital amaurosis cone rod type with congenital hypertrichosis 217080|C536604||jalili syndrome 149000|D007715||klippel trenaunay weber syndrome 149000|D007715||angioosteohypertrophy syndrome 149000|D007715||angio osteohypertrophy syndrome 149000|D007715||angioosteohypertrophy syndromes 149000|D007715||angio osteohypertrophy syndromes 149000|D007715||angiopathies congenital dysplastic 149000|D007715||angiopathy congenital dysplastic 149000|D007715||congenital dysplastic angiopathies 149000|D007715||congenital dysplastic angiopathy 149000|D007715||disease klippel trenaunay 149000|D007715||dysplastic angiopathies congenital 149000|D007715||dysplastic angiopathy congenital 149000|D007715||klippel trenaunay disease 149000|D007715||klippel trenaunay syndrome 149000|D007715||klippel trenaunay syndromes 149000|D007715||klippel tr 233 naunay weber syndrome 149000|D007715||kts 149000|D007715||ktw syndrome 149000|D007715||ktw syndromes 149000|D007715||syndrome angioosteohypertrophy 149000|D007715||syndrome angio osteohypertrophy 149000|D007715||syndrome klippel trenaunay 149000|D007715||syndrome klippel trenaunay weber 149000|D007715||syndrome klippel tr 233 naunay weber 149000|D007715||syndrome ktw 149000|D007715||syndromes angioosteohypertrophy 149000|D007715||syndromes angio osteohypertrophy 149000|D007715||syndromes klippel trenaunay 149000|D007715||syndromes ktw C536015|200600||achondrogenesis type 1a C536015|200600||acg1a C536015|200600||achondrogenesis houston harris type C536015|200600||achondrogenesis type ia C536015|200600||houston harris achondrogenesis D020158|605899||hyperglycinemia nonketotic D020158|605899||encephalopathies glycine D020158|605899||encephalopathy glycine D020158|605899||gce D020158|605899||glycine encephalopathies D020158|605899||glycine encephalopathy D020158|605899||hyperglycinemia non ketotic D020158|605899||hyperglycinemia nonketotic nkh hyperglycinemia transient neonatal included D020158|605899||hyperglycinemia nonketotic type i D020158|605899||hyperglycinemia nonketotic type ii D020158|605899||hyperglycinemia nonketotic type iii D020158|605899||hyperglycinemias nonketotic D020158|605899||hyperglycinemias non ketotic D020158|605899||non ketotic hyperglycinemia D020158|605899||nonketotic hyperglycinemia D020158|605899||non ketotic hyperglycinemias D020158|605899||nonketotic hyperglycinemias D020158|605899||nonketotic hyperglycinemia type i D020158|605899||nonketotic hyperglycinemia type ii D020158|605899||nonketotic hyperglycinemia type iii D020158|605899||tnh included D020158|605899||type iii nonketotic hyperglycinemia D020158|605899||type ii nonketotic hyperglycinemia D020158|605899||type i nonketotic hyperglycinemia C567499|611895||amyotrophic lateral sclerosis 9 C567499|611895||als9 D011038|268400||rothmund thomson syndrome D011038|268400||congenitale poikiloderma D011038|268400||congenitales poikiloderma D011038|268400||congenital poikiloderma D011038|268400||poikiloderma atrophicans and cataract D011038|268400||poikiloderma congenitale D011038|268400||poikiloderma congenitale of rothmund thomson D011038|268400||poikiloderma congenitales D011038|268400||poikiloderma of rothmund thomson D011038|268400||rothmund thomson poikiloderma D011038|268400||rothmund thomson poikilodermas D011038|268400|D015518|312750||rts D011038|268400||syndrome rothmund thomson D023341||chills 610762||high density lipoprotein cholesterol level quantitative trait locus 6 610762||hdlcq6 D010026||osteosclerosis D010026||osteoscleroses D010025||osteoradionecrosis D010025||osteoradionecroses D006938|144010|143890||hyperlipoproteinemia type ii D006938|144010||apolipoprotein b 100 familial defective D006938|144010||apolipoprotein b 100 familial ligand defective D006938|144010||autosomal dominant hypercholesterolemia D006938|144010||autosomal dominant hypercholesterolemias D006938|144010||combined hyperlipoproteinemia familial D006938|144010||combined hyperlipoproteinemias familial D006938|144010||density lipoproteinemia hyper low D006938|144010||density lipoproteinemias hyper low D006938|144010||disorder ldl receptor D006938|144010||disorders ldl receptor D006938|144010||dominant hypercholesterolemia autosomal D006938|144010||dominant hypercholesterolemias autosomal D006938|144010||essential hypercholesterolemia D006938|144010||essential hypercholesterolemias D006938|144010||familial combined hyperlipoproteinemia D006938|144010||familial combined hyperlipoproteinemias D006938|144010||familial hypercholesterolemia D006938|144010||familial hypercholesterolemias D006938|144010||familial hypercholesterolemic xanthomatoses D006938|144010||familial hypercholesterolemic xanthomatosis D006938|144010||hyperbetalipoproteinemia D006938|144010||hyper beta lipoproteinemia D006938|144010||hyperbetalipoproteinemias D006938|144010||hyper beta lipoproteinemias D006938|144010||hypercholesterolemia autosomal dominant D006938|144010||hypercholesterolemia autosomal dominant type b D006938|144010||hypercholesterolemia essential D006938|144010|143890||hypercholesterolemia familial D006938|144010|C536083||hypercholesterolemia familial due to ligand defective apolipoprotein b D006938|144010||hypercholesterolemias autosomal dominant D006938|144010||hypercholesterolemias essential D006938|144010||hypercholesterolemias familial D006938|144010||hypercholesterolemic xanthomatoses familial D006938|144010|143890||hypercholesterolemic xanthomatosis familial D006938|144010||hyperlipoproteinemia familial combined D006938|144010||hyperlipoproteinemias familial combined D006938|144010||hyperlipoproteinemias type ii D006938|144010||hyperlipoproteinemias type iia D006938|144010||hyperlipoproteinemia type 2 D006938|144010||hyperlipoproteinemia type 2s D006938|144010|143890||hyperlipoproteinemia type iia D006938|144010||hyperlipoproteinemia type iias D006938|144010||hyperlipoproteinemia type iib D006938|144010||hyperlipoproteinemia type iibs D006938|144010||hyperlipoproteinemia type iis D006938|144010|143890||hyper low density lipoproteinemia D006938|144010||hyper low density lipoproteinemias D006938|144010||ldl receptor disorder D006938|144010||ldl receptor disorders D006938|144010||lipoproteinemia hyper low density D006938|144010||lipoproteinemias hyper low density D006938|144010||receptor disorder ldl D006938|144010||receptor disorders ldl D006938|144010||type 2 hyperlipoproteinemia D006938|144010||type iia hyperlipoproteinemia D006938|144010||type iia hyperlipoproteinemias D006938|144010||type ii hyperlipoproteinemia D006938|144010||type ii hyperlipoproteinemias D006938|144010||xanthomatoses familial hypercholesterolemic D006938|144010||xanthomatosis familial hypercholesterolemic 610761||high density lipoprotein cholesterol level quantitative trait locus 5 610761||hdlcq5 D010029||ostertagiasis D010029||ostertagiases 611092|C567017||mental retardation autosomal recessive 6 611092|C567017||mrt6 D009041||motion sickness D009041||airsickness D009041||air sickness D009041||carsickness D009041||car sickness D009041||seasickness D009041||sea sickness D009041||sickness air D009041||sickness car D009041||sickness motion D009041||sickness sea D010020||osteonecrosis D010020||aseptic necrosis of bone D010020||avascular necrosis of bone D010020||bone aseptic necrosis D010020||bone avascular necrosis D010020||kienbock disease D010020||kienbock apos s disease D010020||kienboeck disease D010020||kienboeck apos s disease D010020||kienboecks disease D010020||necrosis aseptic of bone D010020||necrosis avascular of bone D010020||osteonecroses D011350||proctocolitis D011350||hemorrhagic proctocolitis D011350||hemorrhagic rectocolitis D011350||proctocolitides ulcerative D011350||proctocolitis hemorrhagic D011350||proctocolitis ulcerative D011350||proctosigmoiditis D011350||rectocolitides ulcerative D011350||rectocolitis D011350||rectocolitis hemorrhagic D011350||rectocolitis ulcerative D011350||rectosigmoiditis D011350||ulcerative proctocolitides D011350||ulcerative proctocolitis D011350||ulcerative rectocolitides D011350||ulcerative rectocolitis 608447||carotid intimal medial thickness 2 608447||carotid intimal medial thickness quantitative trait locus on chromosome 12 608447||cimt2 214400|C535419||charcot marie tooth disease type 4a 214400|C535419||charcot marie tooth disease demyelinating autosomal recessive 214400|C535419||charcot marie tooth neuropathy type 4a 214400|C535419||cmt4a D010023||osteopoikilosis D010023||osteopoikiloses 264700|C562688||vitamin d hydroxylation deficient rickets type 1a 264700|C562688||1 alpha 25 hydroxyvitamin d3 deficiency selective 264700|C562688||1 alpha hydroxylase deficiency 264700|C562688||25 hydroxycholecalciferol 1 hydroxylase deficiency 264700|C562688||pddr1a 264700|C562688||pddr ia 264700|C562688||pseudovitamin d deficiency rickets type ia 264700|C562688||vdd1 264700|C562688||vddr1a 264700|C562688||vitamin d dependency type 1 264700|C562688||vitamin d dependent rickets type 1a 256500|D056770||netherton syndrome 256500|D056770||disease netherton 256500|D056770||erythroderma ichthyosiform with hypotrichosis and hyper ige 256500|D056770||neth 256500|D056770||netherton disease 256500|D056770||ns 256500|D056770||syndrome netherton C535306|236792||2 hydroxyglutaricaciduria C535306|236792||2 hga C535306|236792||2 hydroxyglutaric aciduria C535306|236792||combined d 2 and l 2 hydroxyglutaric aciduria C535306|236792||d2hga C535306|236792||d2hga1 C535306|236792||d2hga2 C535306|236792||d 2 hydroxyglutaric aciduria C535306|236792||d 2 hydroxyglutaric aciduria 1 C535306|236792||d 2 hydroxyglutaric aciduria 2 C535306|236792||l 2 hydroxyglutaric acidemia C535306|236792||l 2 hydroxyglutaric aciduria D009059||mouth diseases D009059||disease mouth D009059||diseases mouth D009059||mouth disease D009058||mouth breathing D009058||breathing mouth D009058||breathings mouth D009058||mouth breathings D010039||otorhinolaryngologic neoplasms D010039||cancer otorhinolaryngeal D010039||cancers otorhinolaryngeal D010039||neoplasm ootorhinolaryngeal D010039||neoplasm otorhinolaryngologic D010039||neoplasm otorhinolaryngological D010039||neoplasms ootorhinolaryngeal D010039||neoplasms otorhinolaryngologic D010039||neoplasms otorhinolaryngological D010039||ootorhinolaryngeal neoplasm D010039||ootorhinolaryngeal neoplasms D010039||otorhinolaryngeal cancer D010039||otorhinolaryngeal cancers D010039||otorhinolaryngological neoplasm D010039||otorhinolaryngological neoplasms D010039||otorhinolaryngologic neoplasm D009057||stomatognathic diseases D009057||dental disease D009057||dental diseases D009057||disease dental D009057||diseases dental D009057||diseases stomatognathic D009057||disease stomatognathic D009057||mouth and tooth diseases D009057||stomatognathic disease D010038||otorhinolaryngologic diseases D010038||disease ent D010038||disease otolaryngologic D010038||disease otolaryngological D010038||disease otorhinolaryngologic D010038||disease otorhinolaryngological D010038||diseases ent D010038||diseases otolaryngologic D010038||diseases otolaryngological D010038||diseases otorhinolaryngologic D010038||diseases otorhinolaryngological D010038||ent disease D010038||ent diseases D010038||otolaryngological disease D010038||otolaryngological diseases D010038||otolaryngologic disease D010038||otolaryngologic diseases D010038||otorhinolaryngological disease D010038||otorhinolaryngological diseases D010038||otorhinolaryngologic disease D009056||mouth abnormalities D009056||abnormalities mouth D009056||abnormality mouth D009056||mouth abnormality 150600|D007873||legg calve perthes disease 150600|D007873||coxa plana 150600|D007873||disease legg calve perthes 150600|D007873||disease legg calv 233 perthes 150600|D007873||disease legg perthes 150600|D007873||disease perthes 150600|D007873||lcp 150600|D007873||lcpd 150600|D007873||legg calv 233 perthes disease 150600|D007873||legg calve perthes syndrome 150600|D007873||legg calv 233 perthes syndrome 150600|D007873||legg perthes disease 150600|D007873||osteochondritis deforman 150600|D007873||osteochondritis deformans 150600|D007873||perthes disease 150600|D007873||syndrome legg calve perthes 150600|D007873||syndrome legg calv 233 perthes C536266|606190||radiation induced meningioma C536266|606190||meningioma radiation induced C536266|606190||mnri D001008|607834||anxiety disorders D001008|607834||anxiety D001008|607834||anxiety disorder D001008|607834||anxiety neuroses D001008|607834||anxiety state neurotic D001008|607834||anxiety states neurotic D001008|607834||disorder anxiety D001008|607834||disorders anxiety D001008|607834||harm avoidance included D001008|607834||neuroses anxiety D001008|607834||neurotic anxiety state D001008|607834||neurotic anxiety states D001008|607834||state neurotic anxiety D001008|607834||states neurotic anxiety D009050||fluorosis dental D009050||dental fluoroses D009050||dental fluorosis D009050||enamel mottled D009050||enamels mottled D009050||fluoroses dental D009050||mottled enamel D009050||mottled enamels D010031||otitis D010031||ear inflammation D010031||ear inflammations D010031||inflammation ear D010031||inflammations ear D010031||otitides C535538|308500||iris hypoplasia and glaucoma C535538|308500||ihg C535538|308500||iris hypoplasia with glaucoma D010032||otitis externa D010032||external otitides D010032||external otitis D010032||externa otitis D010032||otitides external D010032||otitis external D010035||otitis media suppurative D010035||otitis media purulent D010035||purulent otitis media D010035||suppurative otitis media C564766|274400||thyroid dyshormonogenesis 1 C564766|274400||hypothyroidism congenital due to dyshormonogenesis 1 C564766|274400||iodine accumulation transport or trapping defect C564766|274400||tdh1 C564766|274400||thyroid hormonogenesis genetic defect in 1 D010034||otitis media with effusion D010034||ear effusion middle D010034||ear effusions middle D010034||effusion middle ear D010034||effusions middle ear D010034||middle ear effusion D010034||middle ear effusions D010034||otitis media secretory D010034||otitis media serous D010034||secretory otitis media D010034||serous otitis media D000686||amyloidosis D000686||amyloidoses C535650||gastro enteropancreatic neuroendocrine tumor C536983||morillo cucci passarge syndrome C565343|605293||optic atrophy 4 C565343|605293||opa4 C535652||bellini chiumello rimoldi syndrome C535651||gastrocutaneous syndrome C563371|601208||diabetes mellitus insulin dependent 11 C563371|601208||iddm11 C563371|601208||insulin dependent diabetes mellitus 11 C535924|610448||chilblain lupus C535924|610448||chbl1 C535924|610448||chilblain lupus 1 D025981||hip injuries D025981||injuries hip D010005||osteoarthropathy secondary hypertrophic D010005||clubbed finger D010005||clubbed fingers D010005||disease marie bamberger D010005||finger clubbed D010005||fingers clubbed D010005||hypertrophic osteoarthropathies secondary D010005||hypertrophic osteoarthropathy secondary D010005||marie bamberger disease D010005||osteoarthropathies secondary hypertrophic D010005||secondary hypertrophic osteoarthropathies D010005||secondary hypertrophic osteoarthropathy D010008||osteochondritis dissecans D010008||dissecans osteochondritis D010007||osteochondritis D010007||osteochondritides D009021||morphine dependence D009021||abuse morphine D009021||addiction morphine D009021||dependence morphine D009021||morphine abuse D009021||morphine addiction C536975||tracheal agenesis C536975||congenital tracheal agenesis C536975||congenital tracheal stenosis C535643||gardner morrisson abbot syndrome C535643||thrombocytopenia multiple congenital anomaly C536976||tracheal agenesis without tracheoesophageal fistula C536976||type 2 tracheal agenesis D013991||tietze apos s syndrome D013991||chondritides costal D013991||chondritis costal D013991||costal chondritides D013991||costal chondritis D013991||syndrome tietze apos s D013991||tietzes syndrome D013991||tietze syndrome C535642||growth retardation alopecia pseudoanodontia and optic atrophy C535642||gapo syndrome C535642||odontotrichomelic syndrome C535642||tetramelic deficiencies ectodermal dysplasia deformed ears and other abnormalities C536973||total hypotrichosis mari type C536973||alopecia universalis congenita mari type C536973|278150|D007039||hypotrichosis autosomal recessive C536973|278150|D007039||hypotrichosis localized autosomal recessive 2 C536973||hypotrichosis total mari type C536973||mari type alopecia universalis congenita C535645||gardner diamond syndrome C535645||autoerythrocyte sensitization C535645||psychogenic purpura C536210|214700||congenital chloride diarrhea C536210|214700||chloride diarrhea congenital finnish type C536210|214700||chloridorrhea congenital C536210|214700||congenital chloridorrhea C536210|214700||darrow gamble disease C536210|214700||diar1 C536210|214700||diarrhea 1 secretory chloride congenital C535644||intestinal polyposis osteomas sebaceous cysts C535644||polyposis coli and multiple hard and soft tissue tumors D010000||osteitis D010000||bone inflammation D010000||inflammation bone C535647||gas bloat syndrome C535647||post fundoplication syndrome 185800|C536223||cushing apos s symphalangism 185800|C536223||cushing symphalangism 185800|C536223||hereditary absence of proximal interphalangeal joints 185800|C536223||hereditary absence of the proximal interphalangeal joints 185800|C536223||strasburger hawkins eldridge hargrave mckusick syndrome 185800|C536223||strasburger hawkins eldridge syndrome 185800|C536223||sym1 185800|C536223||sym1a 185800|C536223||symphalangism proximal 185800|C536223||symphalangism proximal 1a 185800|C536223||vessel apos s syndrome C566706|613731||retinitis pigmentosa 4 C566706|613731||retinitis pigmentosa rhodopsin related C566706|613731||rp4 C535646||garret tripp syndrome C535646||mental retardation with postaxial polydactyly congenital absence of hair severe seborrhoeic dermatitis and perthes apos disease of the hip C536977||tracheobronchopathia osteoplastica C536977||cartilaginous or bony projections into the tracheobronchial lumen C536977||tracheobronchopathia osteochondroplastica C536977||tracheopathia osteoplastica D010002||osteitis fibrosa cystica D010002||recklinghausen disease bone D010002||recklinghausen disease of bone D010002||recklinghausens disease bone D010002||recklinghausen apos s disease of bone C536978||tranebjaerg svejgaard syndrome C536978||mental retardation x linked tranebjaerg type seizures and psoriasis C536978||x linked mental retardation associated with psoriasis C535648||familial primary gastric lymphoma C535648||gastric lymphoma C535648||gastric lymphoma primary C535648||primary gastric lymphoma C535852|610140||heart hand syndrome slovenian type D000699||pain insensitivity congenital D000699||analgesia congenital D000699||channelopathy associated insensitivity to pain D000699||congenital analgesia D000699||congenital indifference to pain D000699||congenital insensitivity to pain D000699||congenital pain indifference D000699||congenital pain indifferences D000699||congenital pain insensitivity D000699||insensitivity congenital pain D000699||pain indifference congenital C537996|202650||dysgnathia complex C537996|202650||agnathia holoprosencephaly C537996|202650||agnathia otocephaly complex C537996|202650||agotc C537996|202650||dysgnathia complex agnathia holoprosencephaly C537996|202650||holoprosencephaly agnathia C537996|202650|C562503||otocephaly C535663||acroosteolysis dominant type C535662||acromicric dysplasia C535662||acromicric skeletal dysplasia C535662||geleophysic dwarfism C535662||geleophysic dysplasia D000690||amyotrophic lateral sclerosis D000690||als amyotrophic lateral sclerosis D000690||amyotrophic lateral sclerosis guam form D000690|105500||amyotrophic lateral sclerosis parkinsonism dementia complex 1 D000690|105500||amyotrophic lateral sclerosis parkinsonism dementia complex of guam D000690||amyotrophic lateral sclerosis with dementia D000690||charcot disease D000690||dementia with amyotrophic lateral sclerosis D000690||disease guam D000690||disease lou gehrigs D000690||gehrig disease D000690||gehrig apos s disease D000690||gehrigs disease D000690|105500||guam disease D000690||guam form of amyotrophic lateral sclerosis D000690||lou gehrig disease D000690||lou gehrig apos s disease D000690||lou gehrigs disease D000690||motor neuron disease amyotrophic lateral sclerosis D000690||sclerosis amyotrophic lateral C535661|602875||acromesomelic dysplasia maroteaux type C535661|602875||amdm C535661|602875||st helena dysplasia included C565133|604307||cataract coppock like C565133|604307||cataract 2 multiple types C565133|604307||cataract 2 multiple types with or without microcornea C565133|604307||cataract embryonic nuclear C565133|604307||ccl C565133|604307||ctrct2 C535540|147891||ischiopatellar dysplasia C535540|147891||coxopodopatellar syndrome C535540|147891||scott taor syndrome C535540|147891||small patella syndrome C535540|147891|184850|D016750||sps D000694||anal gland neoplasms D000694||anal gland neoplasm D000694||circumanal gland neoplasm D000694||circumanal gland neoplasms D000694||neoplasm anal gland D000694||neoplasm circumanal gland D000694||neoplasm perianal gland D000694||neoplasms anal gland D000694||neoplasms circumanal gland D000694||neoplasms perianal gland D000694||perianal gland neoplasm D000694||perianal gland neoplasms D012678||sensation disorders D012678||sensation disorder D012678||senses disorder special D012678||senses disorders special D012678||sensory disorder D012678||sensory disorders D012678||special senses disorder D012678||special senses disorders D010015||osteolysis essential D010015||bone disease disappearing D010015||cystic angiomatosis of bone diffuse D010015||disappearing bone disease D010015||essential osteolyses D010015||essential osteolysis D010015||gorham disease D010015||gorham stout disease D010015||idiopathic multicentric osteolyses D010015||idiopathic multicentric osteolysis D010015||massive osteolyses D010015||massive osteolysis D010015||multicentric osteolyses idiopathic D010015||multicentric osteolysis idiopathic D010015||osteolyses essential D010015||osteolyses idiopathic multicentric D010015||osteolyses massive D010015||osteolysis idiopathic multicentric D010015||osteolysis massive D010014||osteolysis D010014||osteolyses D010017||osteoma osteoid D010017||osteoid osteoma D010017||osteoid osteomas D010017||osteomas osteoid D010016||osteoma D010016||osteomas D010019||osteomyelitis D010019||osteomyelitides D010018||osteomalacia D010018||adult rickets D010018||rickets adult D011349||proctitis D011349||proctitides C535654||rosenthal kloepfer syndrome C535654||acromegaloid changes cutis verticis gyrata and corneal leukoma C535653||acrokeratoelastoidosis of costa C535653||collagenous plaques of hand and feet C535653||collagenous plaques of hands and feet C535653||palmoplantar keratoderma punctate type 3 C535655||acromegaloid facial appearance syndrome C535655||thick lips and oral mucosa C535658||acromesomelic dysplasia C535658|201250||acromesomelic dwarfism C535658||acromesomelic dwarfism maroteux type C535658|201250||acromesomelic dysplasia hunter thompson type C535658||st helena dysplasia C566984|611228||charcot marie tooth disease type 4j C566984|611228||charcot marie tooth disease autosomal recessive type 4j C566984|611228||cmt4j C535657||acromelic frontonasal dysplasia C536988||motor neuropathy peripheral with dysautonomia C536988||lisker garcia ramos syndrome C536988||peripheral motor neuropathy associated with autonomic dysfunction C566883|259720||osteopetrosis autosomal recessive 5 C566883|259720||optb5 C566883|259720||osteopetrosis infantile malignant 3 C536989||mousa al din al nassar syndrome C536989||bedouin spastic ataxia syndrome C535659||acromesomelic dysplasia campailla martinelli type C535659||mesomelic dwarfism campailla martinelli type D001998||bronchopulmonary sequestration D001998||bronchopulmonary sequestrations D001998||pulmonary sequestration D001998||pulmonary sequestrations D001998||sequestration bronchopulmonary D001998||sequestration pulmonary D001998||sequestrations bronchopulmonary D001998||sequestrations pulmonary D001997||bronchopulmonary dysplasia D001997||dysplasia bronchopulmonary C564199||hemifacial hyperplasia with strabismus C564199||bencze syndrome C535670||accutane embryopathy C535670||accutane exposed pregnancies C535670||isotretinoin embryopathy C535670||isotretinoin roaccutane embryopathy D001996||bronchopneumonia D001996||bronchial pneumonia D001996||bronchial pneumonias D001996||bronchopneumonias D001996||pneumonia bronchial D001996||pneumonias bronchial C564198||hemifacial spasm familial C535338|302200||cataract congenital with microcornea or slight microphthalmia C535338|302200||cataract 40 C535338|302200||cataract 40 with or without microcornea C535338|302200||cataract congenital total C535338|302200||cataract congenital total with posterior sutural opacities in heterozygotes C535338|302200||cataract congenital x linked C535338|302200||cataract total congenital C535338|302200||cataract total congenital with posterior sutural opacities in heterozygotes C535338|302200||cct C535338|302200||ctrct40 C535338|302200||cxn C535672||acute cholinergic dysautonomia C535674||richards rundle syndrome C535674||ataxia deafness retardation syndrome with ketoaciduria C535674||familial ataxia hypogonadism syndrome C535674||ketoaciduria mental deficiency syndrome C535674||ketoaciduria with mental deficiency and other features C535673||acute erythroleukemia C535673||acute erythroleukemia m6a subtype C535673||acute erythroleukemia m6b subtype C535673||acute myeloid leukemia fab m6 D001990||bronchiolitis viral D001990||bronchiolitides viral D001990||viral bronchiolitides D001990||viral bronchiolitis D001994||bronchogenic cyst D001994||bronchial cyst D001994||bronchial cysts D001994||bronchogenic cysts D001994||cyst bronchial D001994||cyst bronchogenic D001994||cysts bronchial D001994||cysts bronchogenic 216550|C536438||cohen syndrome 216550|C536438||chs1 formerly 216550|C536438||coh 216550|C536438||coh1 216550|C536438||hypotonia obesity and prominent incisors 216550|C536438||norio syndrome 216550|C536438||obesity hypotonia syndrome 216550|C536438||pepper syndrome 216550|C536438||prominent incisors obesity hypotonia syndrome D025962||septo optic dysplasia D025962||de morsier syndrome D025962||dysplasia septooptic D025962||dysplasias septooptic D025962||morsier syndrome de D025962|182230|C531815||septooptic dysplasia D025962||septooptic dysplasias D025962||septo optic dysplasia with growth hormone deficiency D025962||syndrome de morsier D001991||bronchitis D001991||bronchitides C567784|605911||3 hydroxy 3 methylglutaryl coa synthase 2 deficiency C567784|605911||hmgcs2 deficiency C567784|605911||mitochondrial hmg coa synthase deficiency D011317||priapism D011317||priapisms D013978||tibial fractures D013978||fractures tibial D013978||fracture tibial D013978||tibial fracture C536997||le marec bracq picaud syndrome C536997||complex malformation syndrome with brachymesomelia C536231|600884||familial dilated cardiomyopathy C536231|600884||cardiomyopathy dilated 1b C536231|600884||cardiomyopathy familial dilated C536231|600884||cardiomyopathy familial dilated 1 C536231|600884||cmd1b C536231|600884|D055036|114290||cmpd1 C536231|600884||dilated cardiomyopathy familial C536231|600884||fdc C536231|600884||hypokinetic dilated cardiomyopathy familial C535665||acrorenal mandibular syndrome C535665||acro renal uterine mandibular syndrome C535665||acrorenal uterine mandibular syndrome C535665||split hand and split foot with mandibular hypoplasia C536998||leber congenital amaurosis type 3 C536998||amaurosis congenita of leber 3 C535666||acrorenal syndrome recessive C535666||acrorenal syndrome autosomal recessive C535666||curran syndrome C563898|608615||oligodontia colorectal cancer syndrome C563898|608615||odcrcs C563898|608615||tooth agenesis colorectal cancer syndrome C535669||actinic cheilitis C535669||actinic cheilosis C535668|C562707|201400||adrenocorticotropic hormone deficiency D055732||pulmonary aspergillosis D055732||aspergillose bronchopulmonary D055732||aspergilloses bronchopulmonary D055732||aspergilloses lung D055732||aspergillosis bronchopulmonary D055732||aspergillosis lung D055732||aspergillosis pulmonary D055732||bronchopulmonary aspergillose D055732||bronchopulmonary aspergilloses D055732||bronchopulmonary aspergillosis D055732||lung aspergillosis D055732||pulmonary aspergilloses C536999||leber congenital amaurosis type 4 C536999||amaurosis congenita of leber 4 C563172|262600||pituitary hormone deficiency combined 2 C563172|262600||ateliotic dwarfism with hypogonadism C563172|262600||cphd2 C563172|262600||hanhart dwarfism C563172|262600|C580003||panhypopituitarism C563172|262600||pituitary dwarfism iii D012640||seizures D012640||auditory seizure D012640||auditory seizures D012640||clonic seizure D012640||clonic seizures D012640||convulsion D012640||convulsion non epileptic D012640||convulsions D012640||convulsions non epileptic D012640||convulsive seizure D012640||convulsive seizures D012640||focal seizure D012640||focal seizures D012640||generalized seizure D012640||generalized seizures D012640||gustatory seizure D012640||gustatory seizures D012640||jacksonian seizure D012640||motor seizure D012640||motor seizures D012640||non epileptic convulsion D012640||non epileptic convulsions D012640||olfactory seizure D012640||olfactory seizures D012640||seizure D012640||seizure auditory D012640||seizure clonic D012640||seizure convulsive D012640||seizure focal D012640||seizure generalized D012640||seizure gustatory D012640||seizure jacksonian D012640||seizure motor D012640||seizure olfactory D012640||seizures auditory D012640||seizures clonic D012640||seizures convulsive D012640||seizure sensory D012640||seizures focal D012640||seizures generalized D012640||seizures gustatory D012640||seizures motor D012640||seizures olfactory D012640||seizure somatosensory D012640||seizures sensory D012640||seizures somatosensory D012640||seizures tonic D012640||seizures tonic clonic D012640||seizures vertiginous D012640||seizures vestibular D012640||seizures visual D012640||seizure tonic D012640||seizure tonic clonic D012640||seizure vertiginous D012640||seizure vestibular D012640||seizure visual D012640||sensory seizure D012640||sensory seizures D012640||somatosensory seizure D012640||somatosensory seizures D012640||tonic clonic seizure D012640||tonic clonic seizures D012640||tonic seizure D012640||tonic seizures D012640||vertiginous seizure D012640||vertiginous seizures D012640||vestibular seizure D012640||vestibular seizures D012640||visual seizure D012640||visual seizures D013971|D006111|275000||thyrotoxicosis D013971||thyrotoxicoses D054403||leukemia prolymphocytic b cell D054403||b cell prolymphocytic leukemia D054403||b cell prolymphocytic leukemias D054403||leukemia b cell prolymphocytic D054403||leukemias b cell prolymphocytic D054403||prolymphocytic leukemia b cell D054403||prolymphocytic leukemias b cell C538333|605779||nail dysplasia isolated congenital C538333|605779||congenital isolated nail dysplasia C538333|605779||isolated congenital nail dysplasia C538333|605779||nail disorder nonsyndromic congenital 7 C538333|605779||ndnc7 C538333|605779||onychodysplasia isolated congenital C536678|309583||snyder robinson syndrome C536678|309583||mental retardation x linked snyder robinson type C536678|309583||mental retardation x linked syndromic snyder robinson type C536678|309583||mrxssr C536678|309583||snyder robinson mental retardation syndrome C536678|309583|D056730|180860||srs C536678|309583||x linked mental retardation snyder robinson type C535681||familial anomalous origin of right pulmonary artery C535681||arpa familial C535681||right pulmonary artery anomalous origin of familial C535680||rieger syndrome 2 C535680|601499||axenfeld rieger syndrome type 2 C535680|601499||rieger syndrome type 2 C535682||right ventricle hypoplasia C535682||hypoplasia of the right ventricle C535682||isolated hypoplasia of the right ventricle C535682||isolated right ventricular hypoplasia C535682||right ventricular hypoplasia C535682||right ventricular hypoplasia isolated D009008||abnormalities severe teratoid D009008||abnormality severe teratoid D009008||severe teratoid abnormalities D009008||severe teratoid abnormality D009008||teratoid abnormalities severe D009008||teratoid abnormality severe D000673||amputation traumatic D000673||amputations traumatic D000673||traumatic amputation D000673||traumatic amputations D009006||monosomy D009006||monosomies D013985||tick paralysis D013985||paralyses tick D013985||paralysis tick D013985||tick paralyses D013986||tick toxicoses D013986||toxicoses tick 123700||cutis laxa autosomal dominant 1 123700||adcl1 D009011||monteggia apos s fracture D009011||fracture monteggia apos s D009011||monteggia fracture D009011||monteggias fracture C535676||richieri costa guion almeida syndrome C535676||acrofacial dysostosis richieri costa guion almeida type C535676||richieri costa guion almeida cohen syndrome C535676||richieri costa guion almeida dwarfism C535675||richieri costa da silva syndrome C535675||tibial hemimelia split hand foot syndrome C535677||richieri costa pereira syndrome C535677||richieri costa and pereira form of acrofacial dysostosis C535677||robin sequence with cleft mandible and limb anomalies D012652||self mutilation D012652||mutilation self C535568|168860||absent patella C535568|168860||familial absence of the patella C535568|168860||familial aplasia of the patella C535568|168860||patella aplasia hypoplasia C535568|168860||ptlah D013984||tick infestations D013984||infestations tick D013984||infestation tick D013984||tick infestation C535679||axenfeld rieger syndrome C535679||axenfeld anomaly C535679||axenfeld rieger anomaly C535679|180500||axenfeld rieger syndrome type 1 C535679||axenfeld syndrome C535679||iridogoniodysgenesis with somatic anomalies C535679||rieger syndrome C535679|180500||rieger syndrome type 1 C535679||rieger syndrome type 3 D013981||tic disorders D013981||childhood tic disorder D013981||childhood tic disorders D013981||chronic motor or vocal tic disorder D013981||motor or vocal tic disorder chronic D013981||motor tic disorder D013981||motor tic disorders D013981||post traumatic tic disorder D013981||post traumatic tic disorders D013981||tic disorder D013981||tic disorder childhood D013981||tic disorder chronic motor or vocal D013981||tic disorder motor D013981||tic disorder post traumatic D013981||tic disorders childhood D013981||tic disorders motor D013981||tic disorders post traumatic D013981||tic disorders transient D013981||tic disorders vocal D013981||tic disorder transient D013981||tic disorder vocal D013981||transient tic disorder D013981||transient tic disorders D013981||vocal tic disorder D013981||vocal tic disorders D055744||invasive pulmonary aspergillosis D055744||allergic bronchopulmonary mycoses D055744||allergic bronchopulmonary mycosis D055744||aspergillosis invasive pulmonary D055744||bronchopulmonary mycoses allergic D055744||bronchopulmonary mycosis allergic D055744||chronic necrotizing pulmonary aspergillosis D055744||mycoses allergic bronchopulmonary D055744||mycosis allergic bronchopulmonary D055744||pulmonary aspergilloses invasive D055744||pulmonary aspergillosis invasive C564179||charcot marie tooth disease foot deformity of C564178||horner syndrome congenital 607088|C564626||spinal muscular atrophy distal autosomal recessive 3 607088|C564626||dhmn3 607088|C564626||dhmn4 607088|C564626||dsma3 607088|C564626||hmn3 607088|C564626||hmn4 607088|C564626||hmn iii 607088|C564626||hmn iv 607088|C564626||neuronopathy distal hereditary motor type iii 607088|C564626||neuronopathy distal hereditary motor type iv 607088|C564626||neuropathy distal hereditary motor type iv D000648||amnesia retrograde D000648||amnesia pre ictal D000648||amnesias pre ictal D000648||amnesias retrograde D000648||memory losses pre ictal D000648||memory losses retrograde D000648||memory loss pre ictal D000648||memory loss retrograde D000648||pre ictal amnesia D000648||pre ictal amnesias D000648||pre ictal memory loss D000648||pre ictal memory losses D000648||retrograde amnesia D000648||retrograde amnesias D000648||retrograde memory loss D000648||retrograde memory losses D000647||amnesia D000647||amnesia dissociative D000647||amnesia global D000647||amnesia hysterical D000647||amnesia memory loss D000647||amnesia memory losses D000647||amnesias D000647||amnesias dissociative D000647||amnesias global D000647||amnesias hysterical D000647||amnesias tactile D000647||amnesias temporary D000647||amnesia tactile D000647||amnesia temporary D000647||amnestic state D000647||amnestic states D000647||dissociative amnesia D000647||dissociative amnesias D000647||global amnesia D000647||global amnesias D000647||hysterical amnesia D000647||hysterical amnesias D000647||state amnestic D000647||states amnestic D000647||tactile amnesia D000647||tactile amnesias D000647||temporary amnesia D000647||temporary amnesias C536391|158900||facioscapulohumeral muscular dystrophy 1a C536391|158900||facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles C536391|158900||facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles included C536391|158900|D020391||facioscapulohumeral muscular dystrophy C536391|158900||facioscapulohumeral muscular dystrophy 1 C536391|158900||facioscapulohumeral muscular dystrophy infantile C536391|158900|C538064|305620||fmd C536391|158900||fshd C536391|158900||fshd1 C536391|158900||fshd1a C536391|158900||fshmd1a C536391|158900||landouzy dejerine muscular dystrophy C536391|158900||landouzy dejerine muscular dystrophy facioscapulohumeral muscular dystrophy infantile included C536391|158900||muscular dystrophy facioscapulohumeral type 1 C536391|158900||muscular dystrophy facioscapulohumeral type 1a C536939||uncombable hair syndrome C536939||cheveux incoiffables C536939||pili trianguli et canaliculi C536939||unmanageable hair syndrome D013955||thyroglossal cyst D013955||cysts thyroglossal D013955||cysts thyroglossal duct D013955||cysts thyrolingual D013955||cyst thyroglossal D013955||cyst thyroglossal duct D013955||cyst thyrolingual D013955||thyroglossal cysts D013955||thyroglossal duct cyst D013955||thyroglossal duct cysts D013955||thyrolingual cyst D013955||thyrolingual cysts D013952||thymus hyperplasia D013952||gland hyperplasias thymus D013952||gland hyperplasia thymus D013952||hyperplasia of thymus gland D013952||hyperplasias thymic D013952||hyperplasia thymic D013952||hyperplasia thymus D013952||thymic hyperplasia D013952||thymic hyperplasias D013952||thymus gland hyperplasia D013952||thymus gland hyperplasias C535609||akaba hayasaka syndrome C536938||umbilical cord ulceration and intestinal atresia C536938||umbilical cord ulcer with intestinal atresia C536938||umbilical ulceration and intestinal atresia D013953||thymus neoplasms D013953||cancer of the thymus D013953||cancer of thymus D013953||cancers thymic D013953||cancers thymus D013953||cancer thymic D013953||cancer thymus D013953||neoplasms thymic D013953||neoplasms thymus D013953||neoplasm thymic D013953||neoplasm thymus D013953||thymic cancer D013953||thymic cancers D013953||thymic neoplasm D013953||thymic neoplasms D013953||thymic tumor D013953||thymic tumors D013953||thymus cancer D013953||thymus cancers D013953||thymus neoplasm D013953||thymus tumor D013953||thymus tumors D013953||tumors thymic D013953||tumors thymus D013953||tumor thymic D013953||tumor thymus 607644|C564361||candidiasis familial 3 607644|C564361||candf3 607644|C564361||candidiasis familial chronic nail with icam1 deficiency 607644|C564361||candn1 607644|C564361||fcnc D013958||thyroid crisis D013958||crisis thyroid D013958||crisis thyrotoxic D013958||storm thyroid D013958||storm thyrotoxic D013958||thyroid storm D013958||thyrotoxic crisis D013958||thyrotoxic storm D012628||dermatitis seborrheic D012628||dermatitides seborrheic D012628||dermatitis seborrheica D012628||seborrhea D012628||seborrheic dermatitides D012628||seborrheic dermatitis D013959||thyroid diseases D013959||diseases thyroid D013959||disease thyroid D013959||thyroid disease D012625||sebaceous gland diseases D012625||disease sebaceous gland D012625||diseases sebaceous gland D012625||gland disease sebaceous D012625||gland diseases sebaceous D012625||sebaceous gland disease D012626||sebaceous gland neoplasms D012626||neoplasm sebaceous gland D012626||neoplasms sebaceous gland D012626||sebaceous gland neoplasm D055756||meningeal carcinomatosis D055756||carcinomatoses leptomeningeal D055756||carcinomatoses meningeal D055756||carcinomatosis leptomeningeal D055756||carcinomatosis meningeal D055756||carcinomatous meningitides D055756||carcinomatous meningitis D055756||leptomeningeal carcinomatoses D055756||leptomeningeal carcinomatosis D055756||meningeal carcinomatoses D055756||meningitides carcinomatous D055756||meningitis carcinomatous C536932||uhl anomaly C536932||parchment right ventricle C536932||uhl apos s anomaly D055752||small cell lung carcinoma D055752||carcinoma small cell lung D055752||oat cell carcinoma of lung D055752||oat cell lung cancer D055752|D018288|182280||small cell cancer of the lung D055752||small cell lung cancer C536935||ulna metaphyseal dysplasia syndrome C536935||hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna C536935||metaphyseal chondrodysplasia rosenberg type C536935||metaphyseal chondroplasia rosenberg type C536935||rosenberg lohr syndrome C564186||histiocytosis progressive mucinous C535603||drachtman weinblatt sitarz syndrome C535603||marrow hypoplasia associated with congenital neurologic anomalies C536936||ulnar hypoplasia lobster claw deformity of feet C536936||familial ulnar aplasia and lobster claw syndrome C536936||severe ulnar aplasia and lobster claw feet C536936||ulnar hypoplasia with lobster claw deformity of feet C536936||van den berghe dequeker syndrome C536934||ulna hypoplasia with mental retardation C536934||bilateral ulnar hypoplasia and mental retardation C536934||mesomelia of the upper limbs absent nails clubfeet and mental retardation C564183||histiocytic dermatoarthritis D001987||bronchiectasis D001987||bronchiectases C564189||diaphragm complete agenesis of D001986||bronchial spasm D001986||bronchial spasms D001986||bronchospasm D001986||bronchospasms D001986||spasm bronchial D001986||spasms bronchial C564188||diaphragmatic hernia 1 D001984||bronchial neoplasms D001984||bronchial neoplasm D001984||neoplasm bronchial D001984||neoplasms bronchial D055036|114290||campomelic dysplasia D055036|114290||acampomelic campomelic dysplasia D055036|114290||acampomelic campomelic dysplasia included D055036|114290||acampomelic campomelic dysplasias D055036|114290||acampomelic campomelic dysplasia with autosomal sex reversal included D055036|114290||campomelic dwarfism D055036|114290||campomelic dysplasia acampomelic D055036|114290||campomelic dysplasias D055036|114290||campomelic dysplasias acampomelic D055036|114290||campomelic syndrome D055036|114290||camptomelic dysplasia D055036|114290||camptomelic dysplasia included D055036|114290||camptomelic dysplasias D055036|114290||cmd1 D055036|114290||cmpd D055036|114290||cmpd1 sra1 D055036|114290||cmpd1 sra1 campomelic dysplasia with autosomal sex reversal included D055036|114290||dysplasia acampomelic campomelic D055036|114290||dysplasia campomelic D055036|114290||dysplasia camptomelic D055036|114290||dysplasias acampomelic campomelic D055036|114290||dysplasias campomelic D055036|114290||dysplasias camptomelic C536950||teebi shaltout syndrome C536950||craniofacial anomalies abnormal hair camptodactyly and caudal appendage D001989||bronchiolitis obliterans D001989||bronchiolitides constrictive D001989||bronchiolitides exudative D001989||bronchiolitides proliferative D001989||bronchiolitis constrictive D001989||bronchiolitis exudative D001989||bronchiolitis proliferative D001989||constrictive bronchiolitides D001989||constrictive bronchiolitis D001989||exudative bronchiolitides D001989||exudative bronchiolitis D001989||proliferative bronchiolitides D001989||proliferative bronchiolitis D001988||bronchiolitis D001988||bronchiolitides D000652||amniotic band syndrome D000652||amniotic band D000652||amniotic bands D000652||amputation intrauterine D000652||amputations intrauterine D000652||annular groove D000652||annular grooves D000652||band amniotic D000652||bands amniotic D000652||constriction intrauterine ring D000652||constrictions intrauterine ring D000652||groove annular D000652||grooves annular D000652||intrauterine amputation D000652||intrauterine amputations D000652||intrauterine ring constriction D000652||intrauterine ring constrictions D000652||ring constriction intrauterine D000652||ring constrictions intrauterine D000652||streeter syndrome D000652||syndrome amniotic band D000652||syndrome streeter D001983||bronchial fistula D001983||bronchial fistulas D001983||fistula bronchial D001983||fistulas bronchial D001982||bronchial diseases D001982||bronchial disease D001982||disease bronchial D001982||diseases bronchial C563907|608567||sick sinus syndrome 1 autosomal recessive C563907|608567||sick sinus syndrome congenital C563907|608567||sinus bradycardia syndrome familial C563907|608567||sinus node disease familial autosomal recessive C563907|608567||sinus rhythm congenital absence of C563907|608567||sss1 C535618||hairy elbows C535618||hypertrichosis cubiti C535618||hypertrichosis cubiti short stature C535618||macdermot patton williams syndrome D013966||thyroiditis D013966||thyroiditides C535617||al gazali sabrinathan nair syndrome D055761||reticuloendotheliosis avian D055761||avian reticuloendothelioses D055761||avian reticuloendotheliosis D055761||reticuloendothelioses avian C536948||teebi kaurah syndrome C535934|601847||cholestasis progressive familial intrahepatic 2 C535934|601847||benign recurrent intrahepatic cholestasis 2 bric2 C535934|601847|605479||cholestasis benign recurrent intrahepatic 2 C535934|601847||pfic2 C535934|601847||progressive familial intrahepatic cholestasis 2 D011304||presbycusis D011304||presbycuses C536949||teebi naguib al awadi syndrome C536949||al awadi teebi farag syndrome C536949||profound limb deficiency thoracic dystrophy unusual facies and normal intelligence D013964||thyroid neoplasms D013964||adenoma thyroid D013964||cancer of the thyroid D013964||cancer of thyroid D013964||cancer thyroid D013964||carcinoma thyroid D013964||neoplasms thyroid D013964||neoplasm thyroid D013964||thyroid adenoma D013964||thyroid cancer D013964||thyroid carcinoma D013964||thyroid neoplasm C535619||hairy nose tip D013969||thyroiditis suppurative D013969||acute infectious thyroiditides D013969||acute infectious thyroiditis D013969||acute suppurative thyroiditides D013969||acute suppurative thyroiditis D013969||infectious thyroiditides D013969||infectious thyroiditides acute D013969||infectious thyroiditis D013969||infectious thyroiditis acute D013969||suppurative thyroiditides D013969||suppurative thyroiditides acute D013969||suppurative thyroiditis D013969||suppurative thyroiditis acute D013969||thyroiditides acute infectious D013969||thyroiditides acute suppurative D013969||thyroiditides infectious D013969||thyroiditides suppurative D013969||thyroiditis acute infectious D013969||thyroiditis acute suppurative D013969||thyroiditis infectious C566393|603285||cerebral cavernous malformations 3 C566393|603285||ccm3 D011305||presbyopia D011305||presbyopias D013968||thyroiditis subacute D013968||cell thyroiditides giant D013968||cell thyroiditis giant D013968||de quervain thyroiditis D013968||giant cell thyroiditides D013968||giant cell thyroiditis D013968||granulomatous thyroiditides D013968||granulomatous thyroiditis D013968||nonsuppurative thyroiditides subacute D013968||nonsuppurative thyroiditis subacute D013968||painful thyroiditides subacute D013968||painful thyroiditis subacute D013968||subacute nonsuppurative thyroiditides D013968||subacute nonsuppurative thyroiditis D013968||subacute painful thyroiditides D013968||subacute painful thyroiditis D013968||subacute thyroiditides D013968||subacute thyroiditis D013968||thyroiditides giant cell D013968||thyroiditides granulomatous D013968||thyroiditides subacute D013968||thyroiditides subacute nonsuppurative D013968||thyroiditides subacute painful D013968||thyroiditis de quervain D013968||thyroiditis giant cell D013968||thyroiditis granulomatous D013968||thyroiditis subacute nonsuppurative D013968||thyroiditis subacute painful 304500|C564433||deafness x linked 1 304500|C564433||deafness x linked 2 sensorineural congenital 304500|C564433||dfn2 304500|C564433||dfnx1 C564193||erythremia beta globin type 611209|C535756||congenital disorder of glycosylation type 2g 611209|C535756||cdg2g 611209|C535756||cdgii cog1 cerebrocostomandibular like syndrome 611209|C535756||cdgiig 611209|C535756||cdg iig 611209|C535756||congenital disorder of glycosylation type iig C535610||akesson syndrome C535610||cutis verticis gyrata thyroaplasia and mental deficiency syndrome C535610||cutis verticis gyrata thyroid aplasia and mental retardation C535610||cutis verticis gyrata thyroid aplasia mental retardation syndrome C564192||methemoglobinemia beta globin type C535611||aksu von stockhausen syndrome C535611||hereditary branchial arch defects C536946||taurodontism C536946||bull teeth C536946||large pulp chambers in the molars C564197||hemolytic poikilocytic anemia due to reduced ankyrin binding sites C536947||taurodontism microdontia and dens invaginatus C537436|139300||aromatase deficiency C537436|139300||aexs C537436|139300||aromatase activity increased C537436|139300||aromatase activity increased gynecomastia familial due to increased aromatase activity included C537436|139300||aromatase excess syndrome C537436|139300||familial gynecomastia due to increased aromatase activity C537436|139300||gynecomastia familial due to increased aromatase activity C537436|139300||gynecomastia hereditary C537436|139300||gynecomastia hereditary included C537436|139300||increased aromatase activity C537436|139300||pseudohermaphroditism female due to placental aromatase deficiency D054438||leukemia myeloid chronic atypical bcr abl negative D054438||atypical chronic myeloid leukemia D054438||chronic myeloid leukemia atypical D054438||leukemia myelogenous ph1 negative D054438||leukemia myeloid chronic atypical D054438||leukemia myeloid ph1 negative D054438||leukemia myeloid philadelphia negative D054438||leukemia ph1 negative myelogenous D054438||leukemia ph1 negative myeloid D054438||leukemia philadelphia negative myeloid D054438||leukemias ph1 negative myelogenous D054438||leukemias ph1 negative myeloid D054438||leukemias philadelphia negative myeloid D054438||myelogenous leukemia ph1 negative D054438||myelogenous leukemias ph1 negative D054438||myeloid leukemia ph1 negative D054438||myeloid leukemia philadelphia negative D054438||myeloid leukemias ph1 negative D054438||myeloid leukemias philadelphia negative D054438||ph1 negative myelogenous leukemia D054438||ph1 negative myelogenous leukemias D054438||ph1 negative myeloid leukemia D054438||ph1 negative myeloid leukemias D054438||philadelphia negative myeloid leukemia D054438||philadelphia negative myeloid leukemias C535613||al gazali aziz salem syndrome C536944||thrombocytopenia absent ulnar syndrome C564195||erythremia alpha globin type D054437||myelodysplastic myeloproliferative diseases D054437||disease myelodysplastic myeloproliferative D054437||disease myeloproliferative myelodisplastic D054437||diseases myelodysplastic myeloproliferative D054437||diseases myeloproliferative myelodisplastic D054437||myelodysplastic myeloproliferative disease D054437||myeloproliferative myelodisplastic disease D054437||myeloproliferative myelodisplastic diseases C535616||al gazali khidr prem chandran syndrome C535616||cherubism optic atrophy and short stature C536945||taurodontia absent teeth sparse hair C536945||taurodontia absent teeth and sparse hair C536945||teeth congenital absence of with taurodontia and sparse hair C564194||methemoglobinemia alpha globin type C535615||al gazali hirschsprung syndrome C535615||al gazali donnai mueller syndrome C535615||hirschsprung disease with hypoplastic nails and dysmorphic facial features C535615||hirschsprung apos s disease hypoplastic nails and dysmorphic facial features C535615||hirschsprung apos s disease hypoplastic nails and minor dysmorphic features C565489||hyperuricemia infantile with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase C564157||hypertaurinuric cardiomyopathy 270685|C536644||spastic paraplegia 17 270685|C536644||silver spastic paraplegia syndrome 270685|C536644||silver syndrome 270685|C536644||spastic paraplegia 17 autosomal dominant 270685|C536644||spastic paraplegia with amyotrophy of hands and feet 270685|C536644||spg17 C564156||hyperthermia cutaneous with headaches and nausea C564156||farmer syndrome C536960||hapnes boman skeie syndrome C564681|606674||inflammatory bowel disease 6 C564681|606674||ibd6 C565486||l gulonolactone oxidase nonfunctional C565486||gulo nonfunctional C564159||hyperproglucagonemia C564159||glucagon large molecular weight species of C535630||hantavirosis C535630||hantavirus fever D012607||scotoma D012607||altitudinal scotoma D012607||altitudinal scotomas D012607||arcuate scotoma D012607||arcuate scotomas D012607||bjerrum scotoma D012607||bjerrum scotomas D012607||central scotoma D012607||central scotomas D012607||centrocecal scotoma D012607||centrocecal scotomas D012607||paracecal scotoma D012607||paracecal scotomas D012607||paracentral scotoma D012607||paracentral scotomas D012607||peripheral scotoma D012607||peripheral scotomas D012607||ring scotoma D012607||ring scotomas D012607||scintillating scotoma D012607||scintillating scotomas D012607||scotoma altitudinal D012607||scotoma arcuate D012607||scotoma bjerrum D012607||scotoma central D012607||scotoma centrocecal D012607||scotoma paracecal D012607||scotoma paracentral D012607||scotoma peripheral D012607||scotoma ring D012607||scotomas D012607||scotomas altitudinal D012607||scotomas arcuate D012607||scotomas bjerrum D012607||scotomas central D012607||scotomas centrocecal D012607||scotoma scintillating D012607||scotoma sector D012607||scotomas paracecal D012607||scotomas paracentral D012607||scotomas peripheral D012607||scotomas ring D012607||scotomas scintillating D012607||scotomas sector D012607||sector scotoma D012607||sector scotomas 108120||arthrogryposis distal type 1a 108120|C535378||amcd1 108120|C535378||arthrogryposis distal type 1 108120|C535378||arthrogryposis multiplex congenita distal type i 108120||da1 108120||da1a 212750|D002446||celiac disease 212750|D002446||ais5 included 212750|D002446|153480|D006223||cd 212750|D002446||celiac10 212750|D002446||celiac11 212750|D002446||celiac12 212750|D002446||celiac13 212750|D002446||celiac1 included 212750|D002446||celiac2 212750|D002446||celiac3 212750|D002446||celiac4 212750|D002446||celiac5 212750|D002446||celiac6 212750|D002446||celiac7 212750|D002446||celiac8 212750|D002446||celiac9 212750|D002446||celiac disease susceptibility to 10 212750|D002446||celiac disease susceptibility to 11 212750|D002446||celiac disease susceptibility to 12 212750|D002446||celiac disease susceptibility to 13 212750|D002446||celiac disease susceptibility to 2 212750|D002446||celiac disease susceptibility to 3 212750|D002446||celiac disease susceptibility to 4 212750|D002446||celiac disease susceptibility to 5 212750|D002446||celiac disease susceptibility to 6 212750|D002446||celiac disease susceptibility to 7 212750|D002446||celiac disease susceptibility to 8 212750|D002446||celiac disease susceptibility to 9 212750|D002446||celiac sprue 212750|D002446||disease celiac 212750|D002446||enteropathies gluten 212750|D002446||enteropathies gluten sensitive 212750|D002446||enteropathy gluten 212750|D002446||enteropathy gluten sensitive 212750|D002446||gluten enteropathies 212750|D002446||gluten enteropathy 212750|D002446||gluten sensitive enteropathies 212750|D002446||gluten sensitive enteropathy 212750|D002446||gluten sensitive enteropathy gse celiac disease susceptibility to 1 included 212750|D002446||gluten sensitive enteropathy susceptibility to 10 212750|D002446||gluten sensitive enteropathy susceptibility to 11 212750|D002446||gluten sensitive enteropathy susceptibility to 12 212750|D002446||gluten sensitive enteropathy susceptibility to 13 212750|D002446||gluten sensitive enteropathy susceptibility to 2 212750|D002446||gluten sensitive enteropathy susceptibility to 3 212750|D002446||gluten sensitive enteropathy susceptibility to 4 212750|D002446||gluten sensitive enteropathy susceptibility to 5 212750|D002446||gluten sensitive enteropathy susceptibility to 6 autoimmune disease susceptibility to 5 included 212750|D002446||gluten sensitive enteropathy susceptibility to 7 212750|D002446||gluten sensitive enteropathy susceptibility to 8 212750|D002446||gluten sensitive enteropathy susceptibility to 9 212750|D002446||gses 212750|D002446||nontropical sprue 212750|D002446||sprue 212750|D002446||sprue celiac 212750|D002446||sprue nontropical D012608||scrapie D012608||rida D004410|127700||dyslexia D004410|127700||alexia D004410|127700||alexias D004410|127700||blindnesses word D004410|127700||blindness word D004410|127700||developmental dyslexia D004410|127700||developmental dyslexias D004410|127700||developmental reading disabilities D004410|127700||developmental reading disability D004410|127700||developmental reading disorder D004410|127700||developmental reading disorders D004410|127700||disabilities developmental reading D004410|127700||disability developmental reading D004410|127700||disorder developmental reading D004410|127700||disorder reading D004410|127700||disorders developmental reading D004410|127700||disorders reading D004410|127700||dyslexia developmental D004410|127700||dyslexias D004410|127700||dyslexias developmental D004410|127700||dyslexia susceptibility to 1 D004410|127700||dyslexia susceptibility to 2 D004410|127700||dyslexia susceptibility to 3 D004410|127700||dyslexia susceptibility to 5 D004410|127700||dyslexia susceptibility to 6 D004410|127700||dyslexia susceptibility to 7 included D004410|127700||dyslexia susceptibility to 8 D004410|127700||dyslexia susceptibility to 9 D004410|127700||dyx1 D004410|127700||dyx2 D004410|127700||dyx3 D004410|127700||dyx4 included D004410|127700||dyx5 D004410|127700||dyx6 D004410|127700||dyx7 included D004410|127700||dyx8 D004410|127700||dyx9 D004410|127700||reading disabilities developmental D004410|127700||reading disability developmental D004410|127700||reading disability specific 1 dyslexia susceptibility to 4 included D004410|127700||reading disability specific 2 D004410|127700||reading disorder D004410|127700||reading disorder developmental D004410|127700||reading disorders D004410|127700||reading disorders developmental D004410|127700||word blindness D004410|127700||word blindness congenital D004410|127700||word blindnesses C535629||hanhart syndrome C535629||oromandibular limb hypogenesis complex C536959||temtamy syndrome C536959||craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation C536959||dysmorphism corpus callosum agenesis and colobomas D012600||scoliosis D012600||scolioses C536953||tel hashomer camptodactyly syndrome C565492||hypertrichosis congenital anterior cervical with peripheral sensory and motor neuropathy C564160|D011546|145260||pseudohypoaldosteronism type iia D054446||lymphoma primary cutaneous anaplastic large cell D054446||primary cutaneous anaplastic large cell lymphoma D054446||primary cutaneous cd30 positive large t cell lymphoma C535621||halal setton wang syndrome C535621||hidrotic ectodermal dysplasia halal type C536954||telencephalic leukoencephalopathy C535620||hairy palms and soles C535620||circumscribed hairy dysembryoplasia of palms C535620||hairy cutaneous malformations of palms and soles C535620||thickened hair bearing skin on the palms of both hands C536951||teebi syndrome C565494||hyperphosphatemia polyuria and seizures C535623||hall riggs mental retardation syndrome C536952||teeth noneruption of with maxillary hypoplasia and genu valgum C565495||hyperphosphatasia with mental retardation C535622||halal syndrome C535622||microcephaly cleft palate autosomal dominant C536957||temporomandibular ankylosis C536957||ankylosis of the temporomandibular joint tmj C564164||hyperpigmentation of fuldauer and kuijpers C535625||hamano tsukamoto syndrome C536958||temtamy preaxial brachydactyly syndrome C536958||preaxial brachydactyly syndrome temtamy type C564163||hyperpigmentation familial progressive C535624||hamanishi ueba tsuji syndrome C535624||congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy C536955||telfer sugar jaeger syndrome C536955||piebald trait neurologic defects C536955||white forelock and leukoderma with neurological impairment C565490||hypertrophic neuropathy and cataract C564162||pseudohypoaldosteronism type iic C536956||temporal epilepsy familial C536956||epilepsy familial temporal lobe C536956||familial temporal lobe epilepsy C564161||pseudohypoaldosteronism type iib C535626||hand and foot deformity with flat facies C564168||hyperostosis cranialis interna 241500|C562646||hypophosphatasia infantile 241500|C562646||hops 241500|C562646||phosphoethanolaminuria 241500|C562646||phosphoethanolaminuria hypophosphatasia perinatal lethal included C564165||parathyroid adenomatosis familial cystic C564291|608098||heterotopia periventricular associated with chromosome 5p anomalies C564291|608098||periventricular nodular heterotopia 3 C564291|608098||pvnh3 C565496||hyperparathyroidism neonatal self limited primary with hypercalciuria C536972||torulopsis C536972||neonatal torulopsis glabrata fungemia C565497||hyperopia high C565498||hypermetabolism due to defect in mitochondria C565499||hyperlysinemia due to defect in lysine transport into mitochondria C565831|603965||focal segmental glomerulosclerosis 2 C565831|603965||fsgs2 C565831|603965||glomerulosclerosis focal segmental 2 C564169||hereditary renal cancer associated 1 C564169||renal carcinoma familial associated 1 C535640||fried goldberg mundel syndrome C565280|605844||dermatitis atopic 5 C565280|605844||atod5 D012612||scrub typhus D012612||diseases tsutsugamushi D012612||disease tsutsugamushi D012612||fevers tsutsugamushi D012612||fever tsutsugamushi D012612||tsutsugamushi disease D012612||tsutsugamushi diseases D012612||tsutsugamushi fever D012612||tsutsugamushi fevers D012612||typhus scrub C535639||frias syndrome C535639||growth deficiency facial anomalies and brachydactyly D012610||screw worm infection D012610||infection screw worm D012610||infections screw worm D012610||screw worm infections D013945||thymoma D013945||carcinomas thymic D013945||carcinoma thymic D013945||thymic carcinoma D013945||thymic carcinomas D013945||thymomas D053120||respiratory aspiration D053120||aspiration respiratory D018813|171400||multiple endocrine neoplasia type 2a D018813|171400||mea 2a D018813|171400||mea ii D018813|171400||mea iia D018813|171400||men 2 D018813|171400||men2a D018813|171400||men 2a D018813|171400||men 2a syndrome D018813|171400||men 2a syndromes D018813|171400||men ii D018813|171400||men iia D018813|171400||multiple endocrine neoplasia type 2 D018813|171400||multiple endocrine neoplasia type iia D018813|171400||multiple endocrine neoplasms type 2a D018813|171400||neoplasia multiple endocrine type 2a D018813|171400||neoplasms multiple endocrine type 2a D018813|171400||pheochromocytoma and amyloid producing medullary thyroid carcinoma D018813|171400||ptc syndrome D018813|171400||sipple syndrome D018813|171400||sipple syndrome thyroid carcinoma familial medullary included 607250|C537313||spinocerebellar ataxia autosomal recessive with axonal neuropathy 607250|C537313||scan1 C536964||tollner horst manzke syndrome C536964||heptacarpo octatarso dactyly combined with multiple malformation C564171||palmoplantar keratoderma epidermolytic with knuckle pads C535632||hardikar syndrome C535632||cholestasis pigmentary retinopathy cleft palate syndrome C564170||hyperlipoproteinemia type ii and deafness C535631||cod cerebroocular dysgenesis C535634||harlequin syndrome C535634||sudden onset of unilateral flushing and sweating C535634||unilateral loss of facial flushing and sweating with contralateral anhidrosis C535633||harding ataxia C535633||ataxia harding type C535633||cerebellar ataxia early onset with retained tendon reflex C535633||cerebellar ataxia early onset with retained tendon reflexes C535636||freiberg apos s disease C535636||freiberg kohler syndrome C535636||freiberg apos s infraction C535636||kohler apos s second disease C535636||second metatarsal osteochondrosis C536969||torsion dystonia with onset in infancy C536969||autosomal dominant torsion dystonia with onset in infancy C535635||harrod doman keele syndrome C535635||craniofacial digital genital anomalies C535635||harrod syndrome C535638||frenkel russe syndrome C535638||retinal telangiectasia and hypogammaglobulinemia C535638||retinal telangiectasia associated with hypogammaglobulinemia C536967||tonoki syndrome C536967||short stature brachydactyly nail dysplasia and mental retardation C563250|181030||salivary gland adenoma pleomorphic C563250|181030||psa C563250|181030||sgpa C564172||hyperkeratosis hyperpigmentation syndrome C535637||freire maia odontotrichomelic syndrome C535637||odontotrichomelic hypohidrotic dysplasia C563167||exostoses of heel C563164||hernia double inguinal D000724||ancylostomiasis D000724||ancylostomiases C563168||askin tumor D039141|164300||muscular dystrophy oculopharyngeal D039141|164300||dystrophies oculopharyngeal muscular D039141|164300||dystrophy oculopharyngeal muscular D039141|164300||muscular dystrophies oculopharyngeal D039141|164300||oculopharyngeal dystrophy D039141|164300||oculopharyngeal muscular dystrophies D039141|164300||oculopharyngeal muscular dystrophy D039141|164300||opmd D039141|164300||progressive muscular dystrophy oculopharyngeal type C566403|603174||homocysteinemia C566403|603174|D020138||hyperhomocysteinemia D012707||sertoli cell tumor D012707||tumor sertoli cell D056684|153300||yellow nail syndrome D056684|153300||lymphedema and yellow nails D056684|153300||nail syndromes yellow D056684|153300||nail syndrome yellow D056684|153300||syndromes yellow nail D056684|153300||syndrome yellow nail D056684|153300||yellow nail syndromes D056684|153300||yns D012700||serositis D012700||serositides 605280|C537485||spastic paraplegia 13 autosomal dominant 605280|C537485||spg13 C535926||chitayat meunier hodgkinson syndrome C535926||robin sequence with facial and digital anomalies C536030|604308||mass syndrome C536030|604308||mass phenotype C536030|604308||octd C536030|604308||overlap connective tissue disease C535928||chitty hall baraitser syndrome C535928||deafness femoral epiphyseal dysplasia short stature and developmental delay C535928||growth retardation deafness femoral epiphyseal dysplasia and lacrimal duct obstruction C535927||chitayat moore del bigio syndrome C535929||chitty hall webb syndrome 103600||albumin 103600||alb dysalbuminemic hyperthyroxinemia included 103600||hyperthyroxinemia dysalbuminemic included 103600||analbuminemia included 103600||bisalbuminemia included C535922||chemke oliver mallek syndrome C535922||multiple ophthalmic anomalies and digital hypoplasia C536479|276880||urocanase deficiency C535921||cheilitis glandularis C563171||methemoglobin reductase deficiency C563171||nadph dependent methemoglobin reductase deficiency C563171||tpnh methemoglobin reductase deficiency C535923||chikungunya virus infection C535923||arbovirus a chikungunya type C535923||chikungunya C535923||chikungunya fever C563178|109730||aortic valve disease D012719||setariasis D012719||setariases 612528|C567280||diamond blackfan anemia 5 612528|C567280||dba5 C535937||cholesterol pneumonia C535937||familiaere cholesterin pneumonie 122100|D053559||corneal dystrophy juvenile epithelial of meesmann 122100|D053559||corneal dystrophies meesmann 122100|D053559||corneal dystrophy meesmann 122100|D053559||corneal dystrophy meesmann epithelial 122100|D053559||dystrophies meesmann corneal 122100|D053559||juvenile hereditary epithelial dystrophy 122100|D053559||mecd 122100|D053559||meesmann corneal dystrophies 122100|D053559||meesmann corneal dystrophy 122100|D053559||meesmann corneal epithelial dystrophy 122100|D053559||meesmann epithelial corneal dystrophy 607476|C564391||newfoundland rod cone dystrophy 607476|C564391||nfrcd C567453|611943||riddle syndrome C567453|611943||radiosensitivity immunodeficiency dysmorphic features and learning difficulties C535939||chondrocalcinosis due to apatite crystal deposition C535939||familial apatite disease C563764|609253||febrile convulsions familial 6 C563764|609253||convulsions familial febrile 6 C563764|609253||feb6 C563764|609253||febrile seizures familial 6 C563764|609253||seizures familial febrile 6 D012713||serum sickness D012713||serum sicknesses D012713||sicknesses serum D012713||sickness serum C563142|300047||mental retardation x linked 20 C563142|300047||mrx20 C563185||hyperhidrosis palmaris et plantaris C564527|300360||mental retardation x linked with short stature C564527|300360||mrss 121820|C535477||corneal dystrophy epithelial basement membrane 121820|C535477||cogan corneal dystrophy 121820|C535477||corneal dystrophy anterior basement membrane 121820|C535477||corneal dystrophy cogan type 121820|C535477||corneal dystrophy map dot fingerprint type 121820|C535477||corneal dystrophy microcystic 121820|C535477||ebmd 121820|C535477||map dot fingerprint dystrophy of cornea 121820|C535477||microcystic dystrophy of the cornea D010244|211500||bulbar palsy progressive D010244|211500||bulbar palsies D010244|211500||bulbar palsies progressive D010244|211500||bulbar palsy D010244|211500||bulbar palsy progressive of childhood D010244|211500||bulbar paralyses D010244|211500||bulbar paralysis D010244|211500||childhood progressive bulbar palsy D010244|211500||fazio londe disease D010244|211500||fazio londe syndrome D010244|211500||palsies bulbar D010244|211500||palsies progressive bulbar D010244|211500||palsy bulbar D010244|211500||palsy progressive bulbar D010244|211500||paralysis bulbar D010244|211500||progressive bulbar palsies D010244|211500||progressive bulbar palsy D010244|211500||progressive bulbar palsy of childhood D010244|211500||syndrome fazio londe C537975|610474||catshl syndrome C537975|610474||camptodactyly tall stature and hearing loss syndrome C563148|300143||mental retardation x linked 34 C563147|300705|C563140||mental retardation x linked 31 C564478||nystagmus 5 infantile periodic alternating C564478||nystagmus infantile periodic alternating x linked C566449|610090||pyridoxamine 5 prime phosphate oxidase deficiency C566449|610090||epileptic encephalopathy neonatal pnpo related C566449|610090||pnpo deficiency C566449|610090||pnpo related neonatal epileptic encephalopathy C566449|610090||pyridoxal 5 apos phosphate dependent epilepsy C566449|610090||pyridoxine 5 apos phosphate oxidase deficiency C566449|610090||seizures pyridoxine resistant plp sensitive C535947||devriendt syndrome D000544|104300||alzheimer disease D000544|104300||acute confusional senile dementia D000544|104300||ad D000544|104300||ad1 included D000544|104300||alzheimer dementia ad D000544|104300||alzheimer disease early onset D000544|104300||alzheimer disease early onset with cerebral amyloid angiopathy included D000544|104300||alzheimer disease late onset D000544|104300||alzheimer disease protection against included D000544|104300||alzheimer sclerosis D000544|104300||alzheimer apos s disease D000544|104300||alzheimer apos s disease focal onset D000544|104300||alzheimer syndrome D000544|104300||alzheimer type dementia D000544|104300||alzheimer type dementia atd D000544|104300||alzheimer type senile dementia D000544|104300||dementia alzheimer ad D000544|104300||dementia alzheimer type D000544|104300||dementia alzheimer type atd D000544|104300||dementia presenile D000544|104300||dementia primary senile degenerative D000544|104300||dementia senile D000544|104300||disease alzheimer D000544|104300||disease alzheimer apos s D000544|104300||early onset alzheimer disease D000544|104300||familial alzheimer disease fad D000544|104300||focal onset alzheimer apos s disease D000544|104300||late onset alzheimer disease D000544|104300||presenile alzheimer dementia D000544|104300||presenile and senile dementia alzheimer disease familial 1 included D000544|104300||presenile dementia D000544|104300||primary senile degenerative dementia D000544|104300||sclerosis alzheimer D000544|104300||senile dementia D000544|104300||senile dementia acute confusional D000544|104300||senile dementia alzheimer type D000544|104300||syndrome alzheimer C535949||schofer beetz bohl syndrome D000708||anaplasia D000708||anaplasias C536862|609195||spastic paraplegia 26 autosomal recessive C536862|609195||spg26 D000707||anaphylaxis D000707||anaphylactic reaction D000707||anaphylactic reactions D000707||anaphylactic shock D000707||reaction anaphylactic D000707||reactions anaphylactic D000707||shock anaphylactic C564483||mental retardation x linked 92 C563705|609533||deafness autosomal recessive 23 C563705|609533||dfnb23 C563151|300558|C563146||mental retardation x linked 47 C563151|300558|C563146||mrx47 C535945||desmoplastic cerebral astrocytoma of infancy C566303|104000||alopecia areata 1 C566303|104000||aa1 alopecia universalis included C566303|104000||au included D000711||anaplasmataceae infections D000711||anaplasmataceae infection D000711||haemobartonelloses D000711||haemobartonellosis D000711||infection anaplasmataceae D000711||infections anaplasmataceae C563154||brooks wisniewski brown syndrome C564484||holoprosencephaly ectrodactyly and bilateral cleft lip palate C564484||hartsfield syndrome C563159||acrorenal syndrome C567562|612789||deafness autosomal recessive 71 C567562|612789||dfnb71 614230||chromosome 8q21 11 deletion syndrome D000712||anaplasmosis D000712||anaplasmoses C535958||epidermolysis bullosa inversa dystrophica C535958||junctional epidermolysis bullosa inversa C564490||mental retardation x linked nonsyndromic C535950||dianzani autoimmune lymphoproliferative syndrome C535950||autoimmune lymphoproliferative disease without fas mutations C535950||autoimmune lymphoproliferative syndrome without fas mutations C535950||dianzani autoimmune lymphoproliferative disease C535950||dianzani form of autoimmune lymphoproliferative disease C535953||eosinophilic pustular folliculitis C535953||eosinophilic folliculitis pustular C535953||ofuji disease C535953||ofuji apos s disease C535952||eosinophilic enteropathy C535952||eosinophilic enteritis C535952||eosinophilic gastritis C535952||eosinophilic gastroenteritis C535952||eosinophilic gastroenteropathy C563163||stridor congenital C535954||eosinophilic synovitis C535954||idiopathic eosinophilic synovitis C535954||shulman syndrome C567839|612961||multiple synostoses syndrome 3 C567839|612961||syns3 C565786||myoclonic epilepsy congenital deafness macular dystrophy and psychiatric disorders C537265|604777||lamellar ichthyosis type 3 C537265|604777||arci5 C537265|604777||ichthyosis congenita 3 C537265|604777||ichthyosis congenita iii C537265|604777||ichthyosis congenital autosomal recessive 5 C537265|604777||ichthyosis lamellar 3 C537265|604777||ichthyosis lamellar 3 formerly C537265|604777|C565749||ichthyosis nonlamellar and nonerythrodermic congenital autosomal recessive C537265|604777||li3 formerly C537265|604777||nnci C537265|604777||type 3 lamellar ichthyosis C538165||achromatopsia incomplete x linked C538165||incomplete achromatopsia x linked C538165||x linked achromatopsia incomplete C564452||microphthalmia isolated with cataract 3 C564452||cataract congenital with microcornea and microphthalmia C564452||mcopct3 C564452||microphthalmia and cataract 3 C538164||bowen syndrome C538164||bowen syndrome of multiple malformations C565782||patent ductus arteriosus and bicuspid aortic valve with hand anomalies C563127||corpus callosum agenesis of with facial anomalies and robin sequence C563127||toriello carey syndrome C565783||ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia C538169||acitretin embryopathy C538169||acitretine embryofetopathy C563124||spondylometaphyseal dysplasia x linked C563124||spondylometaphyseal dysplasia richmond type C567212|612649||ciliary dyskinesia primary 11 C567212|612649||cild11 C567212|612649||ciliary dyskinesia primary 11 without situs inversus C563129||van den bosch syndrome C536198|225400||ehlers danlos syndrome type 6 C536198|225400||eds6 C536198|225400||eds6a formerly C536198|225400||eds vi C536198|225400||ehlers danlos syndrome kyphoscoliotic type C536198|225400||ehlers danlos syndrome ocular scoliotic type C536198|225400||ehlers danlos syndrome oculoscoliotic type C536198|225400||ehlers danlos syndrome type 6 a C536198|225400||ehlers danlos syndrome type vi C536198|225400||ehlers danlos syndrome type via C536198|225400||ehlers danlos syndrome type via formerly C536198|225400|C536113||nevo syndrome C564459||spina bifida x linked 614227||hyperuricemic nephropathy familial juvenile 3 614227||hnfj3 C538161||mcpherson robertson cammarano syndrome C538161||dominantly inherited ptosis strabismus and ectopic pupils C538160||mcpherson clemens syndrome C538160||cleft lip cleft palate characteristic facies intestinal malrotation and lethal congenital heart disease C538160||cleft lip palate with characteristic facies intestinal malrotation and lethal congenital heart disease C537314|302600||spinocerebellar ataxia x linked 2 C537314|302600||cerebellar ataxia with extrapyramidal involvement early onset C537314|302600||scax2 170400||hypokalemic periodic paralysis type 1 170400|D020514||hokpp 170400||hokpp1 170400|D020514||hypokalemic periodic paralysis C567337|612359||cowden like syndrome C567337|612359||cowden syndrome 2 C567337|612359||cws2 D016269||milk hypersensitivity D016269||allergies milk D016269||allergy milk D016269||hypersensitivities milk D016269||hypersensitivity milk D016269||milk allergies D016269||milk allergy D016269||milk hypersensitivities 241530|C562793||hypophosphatemic rickets with hypercalciuria hereditary 241530|C562793||hhrh 241530|C562793||hypercalciuric rickets C562901|310468||nephrolithiasis x linked recessive with renal failure C562901|310468||nephrolithiasis 1 C562901|310468||nephrolithiasis x linked recessive type 1 C562901|310468||nphl1 C562901|310468||urolithiasis x linked recessive type 1 C562901|310468||xrn C565791||acne adult C565792||microcephaly primary autosomal recessive 4 D017118|176000||porphyria acute intermittent D017118|176000||acute intermittent porphyria D017118|176000||acute intermittent porphyrias D017118|176000||acute porphyria D017118|176000||acute porphyrias D017118|176000||aip D017118|176000||deaminase deficiencies porphobilinogen D017118|176000||deaminase deficiency porphobilinogen D017118|176000||deficiencies hydroxymethylbilane synthase D017118|176000||deficiencies pbgd D017118|176000||deficiencies porphobilinogen deaminase D017118|176000||deficiencies ups D017118|176000||deficiencies uroporphyrinogen synthase D017118|176000||deficiency hydroxymethylbilane synthase D017118|176000||deficiency pbgd D017118|176000||deficiency porphobilinogen deaminase D017118|176000||deficiency ups D017118|176000||deficiency uroporphyrinogen synthase D017118|176000||hydroxymethylbilane synthase deficiencies D017118|176000||hydroxymethylbilane synthase deficiency D017118|176000||intermittent porphyria acute D017118|176000||intermittent porphyrias acute D017118|176000||pbgd deficiencies D017118|176000||pbgd deficiency D017118|176000||porc included D017118|176000||porphobilinogen deaminase deficiencies D017118|176000||porphobilinogen deaminase deficiency D017118|176000||porphyria acute D017118|176000||porphyria chester type included D017118|176000||porphyrias acute D017118|176000||porphyrias acute intermittent D017118|176000||porphyrias swedish type D017118|176000||porphyria swedish type D017118|176000||swedish type porphyria D017118|176000||swedish type porphyrias D017118|176000||synthase deficiencies hydroxymethylbilane D017118|176000||synthase deficiencies uroporphyrinogen D017118|176000||synthase deficiency hydroxymethylbilane D017118|176000||synthase deficiency uroporphyrinogen D017118|176000||type porphyrias swedish D017118|176000||type porphyria swedish D017118|176000||ups deficiencies D017118|176000||ups deficiency D017118|176000||ups deficiency porphyria acute intermittent nonerythroid variant included D017118|176000||uroporphyrinogen synthase deficiencies D017118|176000||uroporphyrinogen synthase deficiency D017599||neuroectodermal tumors D017599||neuroectodermal tumor D017599||tumor neuroectodermal D017599||tumors neuroectodermal C565797||blepharophimosis with facial and genital anomalies and mental retardation C538177||acrocallosal syndrome schinzel type C538177||schinzel acrocallosal syndrome C538177||schinzel syndrome 1 C538176||acquired pure megakaryocytic aplasia C564463|C538243|301200||amelogenesis imperfecta hypomaturation type with snow capped teeth C538175||acquired ichthyosis C538175||fish scale disease acquired C538175||ichthyosis acquisita C567126|611719||combined oxidative phosphorylation deficiency 5 C567126|611719||coxpd5 C565794||microcephaly primary autosomal recessive 2 C538179||acrodysostosis C538179||acrodysplasia C538179||arkless graham syndrome C538179||maroteaux malamut syndrome C538179||nasal hypoplasia peripheral dysostosis mental retardation syndrome C538179||peripheral dysostosis C538179||peripheral dysostosis nasal hypoplasia mental retardation pnm syndrome C565796||anemia congenital hypoplastic with multiple congenital anomalies mental retardation syndrome C538170||ackerman syndrome C538170||glaucoma juvenile with unusual upper lip and dental roots C538170||juvenile glaucoma with unusual upper lip and dental roots C538170||molar roots pyramidal with juvenile glaucoma and unusual upper lip C538170||pyramidal molars glaucoma abnormal upper lip 614211||deafness autosomal dominant 33 614211||dfna33 151623|C538639||sarcoma family syndrome of li and fraumeni 151623|C538639||lfl included 151623|C538639||lfs1 151623|C538639||li fraumeni syndrome 1 151623|C538639||sarcoma breast leukemia and adrenal gland sbla syndrome 151623|C538639||sbla syndrome li fraumeni like syndrome included C563139|C566875|300055||mental retardation x linked 16 C538174||acquired hypoprothrombinemia C538174||hypoprothrombinemia acquired C538173||acquired angioedema 600060|C564007||deafness autosomal recessive 2 600060|C564007||dfnb2 600060|C564007||neurosensory nonsyndromic recessive deafness 2 600060|C564007||nsrd2 C538172||acquired amegakaryocytic thrombocytopenia C538171||acquired agranulocytosis C538171||agranulocytic angina C538171||granulocytopenia primary C538171||neutropenia malignant 614207||hyperphosphatasia with mental retardation syndrome 3 614207||hpmrs3 614207||mental retardation autosomal recessive 17 614207||mental retardation autosomal recessive 21 614207||mrt17 614207||mrt21 614208||mental retardation autosomal recessive 16 614208||mrt16 C567753|613100||glaucoma 1 open angle o C567753|613100||glc1o C567753|613100||primary open angle glaucoma 1o C536857|312920||spastic paraplegia 2 x linked C536857|312920||spg2 C536857|312920||sppx2 D058490|612965||46 xy disorders of sex development D058490|612965||46 xy dsd D058490|612965||46 xy dsds D058490|612965||46 xy gonadal dysgenesis complete or partial with or without adrenal failure D058490|612965||46 xy sex reversal 3 D058490|612965||46 xy sex reversal partial or complete nr5a1 related D058490|612965||disorder of sex development 46 xy D058490|612965||dsd 46 xy D058490|612965||dsds 46 xy D058490|612965||male pseudohermaphroditism D058490|612965||male pseudohermaphroditisms D058490|612965||pseudohermaphroditism male D058490|612965||pseudohermaphroditisms male D058490|612965||sex reversal xy with or without adrenal failure D058490|612965||srxy3 C563141||mental retardation x linked 19 C564470|300630||mental retardation x linked 59 C567064|300661||phosphoribosylpyrophosphate synthetase superactivity C567064|300661||gout prps related C567064|300661||prps1 superactivity gout prps related included C564432||deafness high frequency sensorineural x linked C565765||hypoglobulinemia and absent b cells C538187||acrogeria gottron type C538187||acrometageria C538187||metageria C565766|D006950|144250||hyperlipidemia combined 2 C565766|D006950|144250||fchl2 C565766|D006950|144250||hyperlipidemia familial combined 2 C565766|D006950|144250||hyplip2 C564430||epidermodysplasia verruciformis x linked C538186||acrofrontofacionasal dysostosis syndrome C538186||acro fronto facio nasal dysostosis C538186||acrofrontofacionasal dysostosis 1 C538186||cleft lip palate with frontonasal dysostosis and postaxial polysyndactyly C538186||polysyndactyly postaxial frontonasal dysostosis and cleft lip palate C565767||vdac deficiency C566468|610498||combined oxidative phosphorylation deficiency 2 C566468|610498||corpus callosum agenesis of with dysmorphism and fatal lactic acidosis C566468|610498||coxpd2 C565761||charcot marie tooth neuropathy type 4b2 with early onset glaucoma C563104||orofaciodigital syndrome vii C563104||ofd7 C563104||ofds vii C563104||oral facial digital syndrome type vii C563104||whelan syndrome C564435||deafness hypogonadism syndrome 162200|D009456||neurofibromatosis 1 162200|D009456|193520||cafe au lait spots with pulmonic stenosis 162200|D009456||i neurofibromatosis type 162200|D009456||molluscum fibrosum 162200|D009456||neurofibromatoses peripheral 162200|D009456||neurofibromatoses type i 162200|D009456||neurofibromatosis i 162200|D009456||neurofibromatosis peripheral 162200|D009456||neurofibromatosis peripheral nf1 162200|D009456||neurofibromatosis peripheral nf 1 162200|D009456||neurofibromatosis peripheral type 162200|D009456||neurofibromatosis type 1 162200|D009456||neurofibromatosis type i 162200|D009456||nf1 162200|D009456||nf1 neurofibromatosis 1 162200|D009456||peripheral neurofibromatoses 162200|D009456||peripheral neurofibromatosis 162200|D009456|193520||pulmonic stenosis with cafe au lait spots 162200|D009456||recklinghausen disease nerve 162200|D009456||recklinghausen disease of nerve 162200|D009456||recklinghausen apos s disease of nerve 162200|D009456||recklinghausens disease of nerve 162200|D009456||syndrome watson 162200|D009456||type 1 neurofibromatosis 162200|D009456||type i neurofibromatoses 162200|D009456||type i neurofibromatosis 162200|D009456||von recklinghausen disease 162200|D009456||von recklinghausen apos s disease 162200|D009456||von recklinghausens disease 162200|D009456|193520||watson syndrome C535726|223800||dyggve melchior clausen syndrome C535726|223800||dmc C535726|223800||dyggve melchior clausen disease C535726|223800||dyggve melchior clausen syndrome x linked C535726|223800||x linked dyggve melchior clausen syndrome C538181||acrodysplasia with ossification abnormalities short stature and fibular hypoplasia C538180||acrodysplasia scoliosis D005599||fractures ununited D005599||fracture ununited D005599||ununited fracture D005599||ununited fractures C564439||cone dystrophy x linked 1 C564438||cone rod dystrophy x linked type 1 C564438|304020||cordx1 C538185||acrofacial dysostosis palagonia type C538185||palagonia type of acrofacial dysostosis C565768||alpha methylacyl coa racemase deficiency D005596||fractures closed D005596||closed fracture D005596||closed fractures D005596||fracture closed D005596||fracture occult D005596||fractures occult D005596||occult fracture D005596||occult fractures C538183||acrofacial dysostosis rodriguez type C538183||acrofacial dysostosis syndrome of rodriguez C538183||rodriguez lethal acrofacial dysostosis syndrome C567936|274300||thyroid hormone resistance generalized autosomal recessive C567936|274300|C567934|188570||grth C567936|274300|C567934|188570||gthr C567936|274300|D018382||refetoff syndrome C567936|274300|C567934|188570||thyroid hormone unresponsiveness D005598||fractures spontaneous D005598||fracture pathologic D005598||fracture pathological D005598||fractures pathologic D005598||fractures pathological D005598||fracture spontaneous D005598||pathological fracture D005598||pathological fractures D005598||pathologic fracture D005598||pathologic fractures D005598||spontaneous fracture D005598||spontaneous fractures C538182||acrofacial dysostosis catania form C538182||acrofacial dysostosis catania type C538182||opitz mollica sorge syndrome D004266||dna virus infections D004266||dna virus infection D004266||infection dna virus D004266||infections dna virus D004266||virus infection dna D004266||virus infections dna D005597||fractures open D005597||compound fracture D005597||compound fractures D005597||fracture compound D005597||fracture open D005597||fractures compound D005597||open fracture D005597||open fractures C536498|273395||tetra amelia autosomal recessive C536498|273395||autosomal recessive tetra amelia C536498|273395||tetra amelia C536498|273395||tetraamelia autosomal recessive C536498|273395||tetra amelia syndrome C535905||lipoatrophy with diabetes hepatic steatosis cardiomyopathy and leukomelanodermic papules C535908||marcus gunn phenomenon C535908||familial marcus gunn phenomenon C535908||jaw winking C535908||maxillopalpebral synkinesis C535909||marden walker like syndrome C535909||blepharophimosis arachnodactyly and congenital contractures C535909||marden walker like syndrome without psychomotor retardation C535909||van den ende gupta syndrome C535909||vdegs C536801|606232||telomeric 22q13 monosomy syndrome C536801|606232||22q13 3 deletion syndrome C536801|606232||22q13 deletion syndrome C536801|606232||chromosome 22q13 3 deletion syndrome C536801|606232||deletion 22q13 3 syndrome C536801|606232||deletion 22q13 syndrome C536801|606232||monosomy 22q13 C536801|606232||phelan mcdermid syndrome D017574||parasystole D017574||parasystoles D017577||cutaneous fistula D017577||cutaneous fistulas D017577||external fistula D017577||external fistulas D017577||fistula cutaneous D017577||fistula external D017577||fistulas cutaneous D017577||fistulas external D017577||fistula skin D017577||fistulas skin D017577||skin fistula D017577||skin fistulas 115200|D002311|C580047||cardiomyopathy dilated 115200|D002311|C580047||1a dilated cardiomyopathy 115200|D002311|C580047||1as dilated cardiomyopathy 115200|D002311|C580047||cardiomyopathies congestive 115200|D002311|C580047||cardiomyopathies dilated 115200|D002311|C580047||cardiomyopathies familial idiopathic 115200|D002311|C580047||cardiomyopathies idiopathic dilated 115200|D002311|C580047||cardiomyopathy 1a dilated 115200|D002311|C580047||cardiomyopathy 1as dilated 115200|D002311|C580047||cardiomyopathy congestive 115200|D002311|C580047||cardiomyopathy dilated 1a 115200|D002311|C580047||cardiomyopathy dilated 1gg 115200|D002311|C580047||cardiomyopathy dilated 1r 115200|D002311|C580047|C567505|611880||cardiomyopathy dilated autosomal recessive 115200|D002311|C580047||cardiomyopathy dilated cmd1a 115200|D002311|C580047||cardiomyopathy dilated lmna 115200|D002311|C580047||cardiomyopathy dilated with conduction defect 1 115200|D002311|C580047||cardiomyopathy dilated with conduction deffect1 115200|D002311|C580047||cardiomyopathy familial idiopathic 115200|D002311|C580047||cardiomyopathy idiopathic dilated 115200|D002311|C580047||cdcd1 115200|D002311|C580047||cmd1a 115200|D002311|C580047||cmd1gg 115200|D002311|C580047||cmd1r 115200|D002311|C580047||congestive cardiomyopathies 115200|D002311|C580047||congestive cardiomyopathy 115200|D002311|C580047||dilated cardiomyopathies 115200|D002311|C580047||dilated cardiomyopathies idiopathic 115200|D002311|C580047||dilated cardiomyopathy 115200|D002311|C580047||dilated cardiomyopathy 1a 115200|D002311|C580047||dilated cardiomyopathy 1as 115200|D002311|C580047||dilated cardiomyopathy idiopathic 115200|D002311|C580047||familial idiopathic cardiomyopathies 115200|D002311|C580047||familial idiopathic cardiomyopathy 115200|D002311|C580047||idiopathic cardiomyopathies familial 115200|D002311|C580047||idiopathic cardiomyopathy familial 115200|D002311|C580047||idiopathic dilated cardiomyopathies 115200|D002311|C580047|C536277||idiopathic dilated cardiomyopathy 115200|D002311|C580047||left ventricular noncompaction 4 included 115200|D002311|C580047||lvnc4 included 115200|D002311|C580047||dmd associated dilated cardiomyopathy 115200|D002311|C580047|302045||cmd3b 115200|D002311|C580047||dilated cardiomyopathy 3b 115200|D002311|C580047||dmd related dilated cardiomyopathy 115200|D002311|C580047||x linked dilated cardiomyopathy C538199||deafness autosomal dominant nonsyndromic sensorineural 24 C563111||absent eyebrows and eyelashes with mental retardation C563111||pseudoprogeria syndrome D016262||postpoliomyelitis syndrome D016262||muscular atrophies postpoliomyelitis D016262||muscular atrophies post poliomyelitis D016262||muscular atrophy postpoliomyelitis D016262||muscular atrophy post poliomyelitis D016262||postpoliomyelitis muscular atrophies D016262||post poliomyelitis muscular atrophies D016262||postpoliomyelitis muscular atrophy D016262||post poliomyelitis muscular atrophy D016262||post poliomyelitis syndrome D016262||post polio syndrome D016262||post polio syndromes D017593||kleine levin syndrome D017593||familial hibernation kleine levin syndrome D017593||familial kleine levin syndrome D017593||hibernation syndrome kleine levin D017593||hypersomnia periodic D017593||kleine levin critchley syndrome D017593||kleine levin hibernation syndrome D017593||kleine levin syndrome familial D017593||periodic hypersomnia D017593||periodic hypersomnias D017593||syndrome familial kleine levin D017593||syndrome kleine levin D017593||syndrome kleine levin critchley D017593||syndrome kleine levin hibernation C564442||cleft palate with ankyloglossia C538198||deafness autosomal dominant nonsyndromic sensorineural 23 C565777||colorectal cancer hereditary nonpolyposis type 7 C565777||hnpcc7 D016263||aids associated nephropathy D016263||aids associated nephropathies D016263||aids nephropathies D016263||aids nephropathy D016263||hiv associated nephropathies D016263||hiv associated nephropathy D016263||hiv related nephropathies D016263||hiv related nephropathy D016263||human immunodeficiency virus associated nephropathy D016263||nephropathies aids D016263||nephropathies aids associated D016263||nephropathies hiv associated D016263||nephropathies hiv related D016263||nephropathy aids D016263||nephropathy aids associated D016263||nephropathy hiv associated D016263||nephropathy hiv related C538197||deafness autosomal dominant nonsyndromic sensorineural 22 C538197||deafness autosomal dominant 22 C538197||dfna22 C538197||dfna 22 C564440||colorblindness partial tritanomaly C564440||tritanomalous colorblindness C565771||human herpesvirus type 6 integrated C564446||charcot marie tooth peroneal muscular atrophy and friedreich ataxia combined C565773||polyneuropathy lethal neonatal axonal sensorimotor autosomal recessive D017590||myelinolysis central pontine D017590||central pontine myelinoclasis D017590||central pontine myelinolysis D017590||extrapontine myelinoclases D017590||extrapontine myelinoclasis D017590||extrapontine myelinolyses D017590||extrapontine myelinolysis D017590||myelinoclases extrapontine D017590||myelinoclasis central pontine D017590||myelinoclasis extrapontine D017590||myelinolyses extrapontine D017590||myelinolysis extrapontine D017590||pontine myelinolysis central C538192|D055947|609192||furlong syndrome C538192||marfanoid disorder with craniosynostosis type 2 C563119||sao paulo mca mr syndrome C538190||muscular dystrophy congenital with central nervous system involvement C538190||muscular dystrophy congenital progressive with mental retardation C564449||cerebral sclerosis diffuse scholz type C538196||atlanto axial fusion C538196||atlantoaxial fusion C538196||atlantoaxial joint fusion C565779|604391||ataxia telangiectasia like disorder C538195||atkin syndrome C538195||atkin flaitz patil smith syndrome C538195||atkin flaitz syndrome C538195|300143||mental retardation x linked 21 C538195||mental retardation x linked atkin type C538195||mental retardation x linked nonspecific C538195||mental retardation x linked nonspecific type 1 C538195|300143||mrx21 C538195||x linked mental retardation syndrome atkin type C538194||furunculous myiasis C538194||furuncular myiasis D028227||amyloid neuropathies familial D028227||amyloid neuropathy familial D028227||amyloid neuropathy type 1 D028227||amyloidoses hereditary neuropathic D028227||amyloidoses portuguese polyneuritic D028227||amyloidosis hereditary neuropathic D028227||amyloidosis portuguese polyneuritic D028227||amyloid polyneuropathies familial D028227||amyloid polyneuropathy british type D028227||amyloid polyneuropathy familial D028227||amyloid polyneuropathy iowa type D028227||amyloid polyneuropathy swiss type D028227||amyloid syndrome neuropathic D028227||amyloid syndromes neuropathic D028227||appalachian type familial amyloid polyneuropathy D028227||british type amyloid polyneuropathy D028227||familial amyloid neuropathies D028227||familial amyloid neuropathy D028227||familial amyloid neuropathy andrade type D028227||familial amyloid neuropathy finnish type D028227||familial amyloid neuropathy portuguese type D028227||familial amyloid polyneuropathies D028227||familial amyloid polyneuropathy D028227||familial amyloid polyneuropathy appalachian type D028227||familial amyloid polyneuropathy jewish type D028227||familial amyloid polyneuropathy type i D028227||familial amyloid polyneuropathy type ii D028227||familial amyloid polyneuropathy type iii D028227|105120|C537459||familial amyloid polyneuropathy type iv D028227||familial amyloid polyneuropathy type v D028227||familial amyloid polyneuropathy type vi D028227||familial portuguese polyneuritic amyloidosis D028227||finnish type familial amyloid neuropathy D028227||hereditary neuropathic amyloidoses D028227||hereditary neuropathic amyloidosis D028227||iowa type amyloid polyneuropathy D028227||jewish type familial amyloid polyneuropathy D028227||neuropathic amyloidoses hereditary D028227||neuropathic amyloidosis hereditary D028227||neuropathic amyloid syndrome D028227||neuropathic amyloid syndromes D028227||neuropathies familial amyloid D028227||neuropathy familial amyloid D028227||polyneuritic amyloidoses portuguese D028227||polyneuritic amyloidosis portuguese D028227||polyneuropathies familial amyloid D028227||polyneuropathy familial amyloid D028227||portuguese polyneuritic amyloidoses D028227||portuguese polyneuritic amyloidosis D028227||portuguese type familial amyloid neuropathy D028227||swiss type amyloid polyneuropathy D028227||syndrome neuropathic amyloid D028227||syndromes neuropathic amyloid D028227||syndrome wohlwill andrade D028227||syndrome wohlwill corino andrade D028227||type i familial amyloid polyneuropathy D028227||type ii familial amyloid polyneuropathy D028227||type iii familial amyloid polyneuropathy D028227||type iv familial amyloid polyneuropathy D028227||type v familial amyloid polyneuropathy D028227||type vi familial amyloid polyneuropathy D028227||wohlwill andrade syndrome D028227||wohlwill corino andrade syndrome C538193||furukawa takagi nakao syndrome D028226||amyloidosis familial D028226||amyloidoses familial D028226||amyloidoses hereditary D028226||amyloidosis hereditaries D028226||amyloidosis hereditary D028226||familial amyloidoses D028226||familial amyloidosis D028226||hereditary amyloidoses D028226||hereditary amyloidosis D004283||dog diseases D004283||canine disease D004283||canine diseases D004283||disease canine D004283||disease dog D004283||diseases canine D004283||diseases dog D004283||dog disease C535915||cartilage hair hypoplasia like syndrome C535914||mononen karnes senac syndrome C535917||cartwright nelson fryns syndrome C565781||lissencephaly familial with cleft palate and cerebellar hypoplasia C535911||marfan syndrome type 2 C535911||marfan like connective tissue disorder C535910||marden walker syndrome C535910||blepharophimosis micrognathia immobile facies kyphoscoliosis limb contractures pigeon breast and arachnodactyly C535910||connective tissue disorder marden walker type C535910||generalized connective tissue syndrome C535913||marinesco sjogren like syndrome msls D017588||hyperandrogenism C565742||hyaluronan metabolism defect in C538121||hirschsprung disease type 3 C565744||mandibulofacial dysostosis syndrome bauru type C538120||hirschsprung disease polydactyly heart disease D017562||postcholecystectomy syndrome D017562||post cholecystectomy syndrome D017562||postcholecystectomy syndromes D017562||post cholecystectomy syndromes D017562||postcholedochoduodenostomy syndrome D017562||post choledochoduodenostomy syndrome D017562||postcholedochoduodenostomy syndromes D017562||post choledochoduodenostomy syndromes D017562||postcholedochojejunostomy syndrome D017562||post choledochojejunostomy syndrome D017562||postcholedochojejunostomy syndromes D017562||post choledochojejunostomy syndromes D017562||postcholedochostomy syndrome D017562||post choledochostomy syndrome D017562||postcholedochostomy syndromes D017562||post choledochostomy syndromes D017562||sump syndrome D017562||sump syndromes D017562||syndrome postcholecystectomy D017562||syndrome post cholecystectomy D017562||syndrome postcholedochoduodenostomy D017562||syndrome post choledochoduodenostomy D017562||syndrome postcholedochojejunostomy D017562||syndrome post choledochojejunostomy D017562||syndrome postcholedochostomy D017562||syndrome post choledochostomy D017562||syndromes postcholecystectomy D017562||syndromes post cholecystectomy D017562||syndromes postcholedochoduodenostomy D017562||syndromes post choledochoduodenostomy D017562||syndromes postcholedochojejunostomy D017562||syndromes post choledochojejunostomy D017562||syndromes postcholedochostomy D017562||syndromes post choledochostomy D017562||syndromes sump D017562||syndrome sump C538126||kuster syndrome C564413||hernia anterior diaphragmatic C538125||kuster majewski hammerstein syndrome C538125||alopecia macular degeneration and growth retardation C538125||alopecia macular degeneration growth retardation 129750|C536185||ectopia pupillae 129750|C536185||familial ectopic pupil C538124||kuskokwim disease C538124||arthrogryposis like disorder C565741||retinal dystrophy early onset severe C564411||hhhh syndrome C564411||hereditary hemihypotrophy hemiparesis hemiathetosis syndrome C563256|121850||corneal dystrophy fleck C563256|121850||cfd C563256|121850||corneal dystrophy francois neetens speckled or flecked C563256|121850||fcd C563256|121850||fleck corneal dystrophy C564416||gynecomastia familial C564415||hemophilia a with vascular abnormality C565746||microcephaly primary autosomal recessive 3 C566589|603511||muscular dystrophy limb girdle type 1e C566589|603511||lgmd1d formerly C566589|603511||lgmd1e C566589|603511||muscular dystrophy limb girdle type 1d formerly D004244||dizziness D004244||dizzyness D004244||lightheadedness D004244||light headedness D004244||orthostasis D011504|226300||protein losing enteropathies D011504|226300||enteropathies exudative D011504|226300||enteropathies protein losing D011504|226300||enteropathy exudative D011504|226300||enteropathy protein losing D011504|226300||exudative enteropathies D011504|226300||exudative enteropathy D011504|226300||hypercatabolic hypoproteinemia idiopathic D011504|226300||hypercatabolic hypoproteinemias idiopathic D011504|226300||hypoproteinemia idiopathic hypercatabolic D011504|226300||hypoproteinemias idiopathic hypercatabolic D011504|226300||idiopathic hypercatabolic hypoproteinemia D011504|226300||idiopathic hypercatabolic hypoproteinemias D011504|226300||protein losing enteropathy 301050|D009394||alport syndrome x linked 301050|208050|C565942|D050030|170390||ats 301050||nephropathy and deafness x linked D018888||aphasia primary progressive D018888||aphasias primary progressive D018888||mesulam apos s syndrome D018888||mesulam syndrome D018888||primary progressive aphasia D018888||primary progressive aphasias D018888||progressive aphasia primary D018888||progressive aphasias primary D018888||syndrome mesulam D018888||syndrome mesulam apos s C538119||hirschsprung disease ganglioneuroblastoma C538119||neuroblastoma with hirschsprung disease D018887||landau kleffner syndrome D018887||acquired aphasia with convulsive disorder D018887||acquired childhoood aphasia with convulsive disorder D018887||acquired epileptic aphasia D018887||acquired epileptic aphasias D018887||acquired epileptiform aphasia D018887||acquired epileptiform aphasias D018887||aphasia acquired epileptic D018887||aphasia acquired with convulsive disorder D018887||aphasia epileptic acquired D018887||epileptic aphasia acquired D018887||epileptic aphasias acquired D018887||epileptiform aphasia acquired D018887||epileptiform aphasias acquired D018887||landau kleffner acquired epileptiform aphasia D018887||syndrome landau kleffner C538117||human herpesvirus 6 encephalitis 231550|C536008||achalasia addisonianism alacrimia syndrome 231550|C536008||aaas 231550|C536008||aaa syndrome 231550|C536008||achalasia addisonianism alacrima syndrome 231550|C536008||achalasia addisonian syndrome 231550|C536008||achalasia alacrima syndrome 231550|C536008||achalasia alacrimia syndrome 231550|C536008||acth resistant adrenal insufficiency achalasia and alacrima 231550|C536008||acth resistant adrenal insufficiency achalasia and alacrima achalasia alacrima syndrome included 231550|C536008||addisonian achalasia syndrome 231550|C536008||alacrima achalasia addisonianism 231550|C536008||alacrima achalasia adrenal insufficiency neurologic disorder 231550|C536008||allgrove syndrome 231550|C536008||glucocorticoid deficiency and achalasia 231550|C536008||hypoadrenalism with achalasia 231550|C536008||infantile achalasia with alacrima 231550|C536008||triple a syndrome D018883||heat stroke D018883||heatstroke D018883||heatstrokes D018883||heat strokes D018883||stroke heat D018883||strokes heat D018886||aphasia conduction D018886||aphasia associative D018886||aphasias associative D018886||aphasias conduction D018886||associative aphasia D018886||associative aphasias D018886||associative dysphasia D018886||associative dysphasias D018886||conduction aphasia D018886||conduction aphasias D018886||conduction dysphasia D018886||conduction dysphasias D018886||dysphasia associative D018886||dysphasia conduction D018886||dysphasias associative D018886||dysphasias conduction C538134||lactic acidosis congenital infantile C564421||liver glycogenosis x linked type ii C535664|605967||acropectoral syndrome C535664|605967||acrps C535664|605967||acrp syndrome C535664|605967||syndactyly preaxial polydactyly and sternal deformity C565755||growth and developmental retardation ocular ptosis cardiac defect and anal atresia C565755||roca syndrome C565755||roca weidemann syndrome C538131||lachiewicz sibley syndrome C538131||hereditary renal disease and preauricular pits D017573||focal epithelial hyperplasia D017573||disease heck D017573||disease heck apos s D017573||epithelial hyperplasia focal D017573||epithelial hyperplasias focal D017573||focal epithelial hyperplasia oral D017573||focal epithelial hyperplasias D017573||heck disease D017573||heck apos s disease D017573||hecks disease D017573||hyperplasia focal epithelial D017573||hyperplasias focal epithelial C564425||fingerprint body myopathy C564424||genitourinary tract anomalies 190900||tritanopia 190900||blue colorblindness 190900||cbt 190900||colorblindness tritan 190900||colorblindness tritanopic C538135||ladda zonana ramer syndrome C538135|C535465||arthrogryposis ectodermal dysplasia cleft lip palate and developmental delay C538135||congenital contractures ectodermal dysplasia cleft lip palate and developmental impairment C564422||glutamyl ribose 5 phosphate storage disease C564422||adp ribose protein hydrolase deficiency C564429||anemia x linked without thrombocytopenia D005588||fox fordyce disease D005588||apocrine miliaria D005588||disease fox fordyce D005588||fox fordyce syndrome D005588||miliaria apocrine D005588||syndrome fox fordyce C564428||exudative vitreoretinopathy familial x linked recessive C564428|305390||exudative vitreoretinopathy familial 2 C564428|305390||fevr x linked C564427||faciogenital dysplasia with attention deficit hyperactivity disorder 610725|C535761|256300||nephrotic syndrome type 3 610725|C535761|256300||nephrotic syndrome early onset type 3 610725|C535761|256300||nphs3 C538130||kyrle disease C538130||hyperkeratosis follicularis et parafollicularis in cutem penetrans C538130||kyrle apos s disease D005585||influenza in birds D005585||avian flu D005585||avian influenza D005585||avian influenzas D005585||flu avian D005585||fowl plague D005585||influenza avian D005585||influenza in bird D005585||influenzas avian D005585||plague fowl C565758||aortic aneurysm giant congenital D005586||fowlpox D005586||birdpox D005586||bird pox D005586||diphtheria fowl D005586||diphtherias fowl D005586||epithelioma contagiosum D005586||fowl diphtheria D005586||fowl diphtherias D005586||fowl pox D005586||pox bird D005586||pox fowl D005586||variola avium 608410||body mass index quantitative trait locus 7 608410||bmiq7 608410|602025|603188|612362|607514|607447|300306||obesity susceptibility to C537201|610245||spinocerebellar ataxia 23 C537201|610245||sca23 C537841|250800||nadh cytochrome b5 reductase deficiency C537841|250800||diaphorase deficiency C537841|250800||methemoglobinemia congenital autosomal recessive C537841|250800||methemoglobinemia congenital autosomal recessive methemoglobinemia type i included C537841|250800||methemoglobinemia due to deficiency of methemoglobin reductase C537841|250800||methemoglobinemia type i C537841|250800||methemoglobinemia type ii C537841|250800||methemoglobinemia type ii included C537841|250800||nadh cytochrome b5 reductase deficiency type i C537841|250800||nadh cytochrome b5 reductase deficiency type ii C537841|250800||nadh cytochrome b5 reductase deficiency type ii included C537841|250800||nadh cytochrome b5 reductase deficiency type i included C537841|250800||nadh dependent methemoglobin reductase deficiency C537841|250800||nadh diaphorase deficiency C537841|250800||nadh methemoglobin reductase deficiency 250460|C563574||metaphyseal dysplasia without hypotrichosis 250460|C563574||cartilage hair hypoplasia like skeletal dysplasia without hypotrichosis or immunodeficiency 250460|C563574||cartilage hair hypoplasia variant skeletal manifestations only 250460|C563574||chhv C567129|611705||myopathy early onset with fatal cardiomyopathy C567129|611705||eomfc D059409||stroke lacunar D059409||infarction lacunar D059409||infarctions lacunar D059409||infarct lacunar D059409||infarcts lacunar D059409||lacunar infarct D059409||lacunar infarction D059409||lacunar infarctions D059409||lacunar infarcts D059409||lacunar stroke D059409||lacunar strokes D059409||lacunar syndrome D059409||lacunar syndromes D059409||strokes lacunar D059409||syndrome lacunar D059409||syndromes lacunar C565309|605670||late onset retinal degeneration C565309|605670||lord C565309|605670||retinal degeneration late onset autosomal dominant C538128||kyphomelic dysplasia C538128||bowing congenital with short bones D017563||lung diseases interstitial D017563||diffuse parenchymal lung diseases D017563||interstitial lung disease D017563||interstitial lung diseases D017563||interstitial pneumonia D017563||interstitial pneumonias D017563||interstitial pneumonitides D017563||interstitial pneumonitis D017563||lung disease interstitial D017563||pneumonia interstitial D017563||pneumonias interstitial D017563||pneumonitides interstitial D017563||pneumonitis interstitial D017564||radiation pneumonitis D017564||fibrosis radiation D017564||pneumonia radiation D017564||pneumonias radiation D017564||pneumonitides radiation D017564||pneumonitis radiation D017564||radiation fibrosis D017564||radiation pneumonia D017564||radiation pneumonias D017564||radiation pneumonitides D059407||pinguecula D059407||pingueculas D017565||sarcoidosis pulmonary D017565||pulmonary sarcoidoses D017565||pulmonary sarcoidosis D017565||sarcoidoses pulmonary D017566||microvascular angina D017566||angina microvascular D017566||angina pectoris with normal coronary arteriogram D017566||angina syndrome x D017566||angina syndrome xs D017566||angina x syndrome D017566||angina x syndromes D017566||cardiac syndrome x D017566||syndrome angina x D017566||syndrome x angina D017566||syndrome x cardiac D017566||syndrome xs angina D017566||x syndrome angina C538145||sutton disease 2 C538145||aphthous stomatitis recurrent C538145||aphthous ulcer recurrent C538145||major aphthous ulcer C538145||major canker sore C538145||recurrent scarring aphthae C538144||supraumbilical midabdominal raphe and facial cavernous hemangiomas C538144||hemangiomas cavernous of face and supraumbilical midline raphe C538144||hemangiomas cavernous of face supraumbilical midline raphe C538144||raphe supraumbilical midline with cavernous facial hemangiomas C538144||sternal nonunion with supraumbilical raphe C565722||encephalopathy spastic tetraparesis and hypogonadism C538142||summitt syndrome C538142||recessive acrocephalosyndactyly with normal intelligence C538142||summitt apos s acrocephalosyndactyly C538148||symphalangism distal with microdontia dental pulp stones and narrowed zygomatic arch C538148||distal symphalangism hypoplastic carpal bones microdontia dental pulp stones and narrowing of the zygomatic arch C566418|603010||deafness autosomal recessive 17 C566418|603010||dfnb17 C538147||symmastia C538147||medial confluence of the breasts 612463|D011556||pseudopseudohypoparathyroidism 612463|D011556||albright hereditary osteodystrophy without multiple hormone resistance 612463|D011556||pphp 612463|D011556||pseudopseudo hypoparathyroidism 612463|D011556||pseudo pseudohypoparathyroidism 612463|D011556||pseudopseudohypoparathyroidisms 612463|D011556||pseudopseudo hypoparathyroidisms 612463|D011556||pseudo pseudohypoparathyroidisms C565728||alzheimer disease familial early onset with coexisting amyloid and prion pathology C565729||clavicular hypoplasia zygomatic arch hypoplasia and micrognathia 250790|C567102||methemoglobinemia type iv 250790|C567102||methemoglobinemia due to deficiency of cytochrome b5 D059411||lower urinary tract symptoms D059413||intraabdominal infections D059413||infection intraabdominal D059413||infection intra abdominal D059413||infections intraabdominal D059413||infections intra abdominal D059413||intraabdominal infection D059413||intra abdominal infection D059413||intra abdominal infections C567456|611928||prostate cancer hereditary 13 C567456|611928||hpc13 194470||zinc elevated plasma 194470||albumin binding of zinc elevated 194470||hyperzincemia familial dysalbuminemic hyperzincemia and hypercalprotectinemia included D031845||hajdu cheney syndrome D031845||acroosteolysis with osteoporosis and changes in skull and mandible D031845||arthrodentoosteodysplasia D031845||arthrodentoosteodysplasias D031845||cheney syndrome D031845||multicentric osteolyses D031845||multicentric osteolysis D031845||osteolyses multicentric D031845||osteolysis multicentric C566605|613705||orofacial cleft 10 C566605|613705||cleft lip with or without cleft palate nonsyndromic 10 C566605|613705||ofc10 C566612|601868||deafness autosomal dominant 13 C566612|601868||dfna13 C538156||synostoses tarsal carpal and digital C538156||calcaneonavicular coalition C565731||craniofacial anomalies empty sella turcica corneal endothelial changes and abnormal retinal and auditory bipolar cells D018880||atrial premature complexes D018880||atrial beat premature D018880||atrial beats premature D018880||atrial complex premature D018880||atrial complices premature D018880||atrial contraction premature D018880||atrial contractions premature D018880||atrial ectopic beat D018880||atrial ectopic beats D018880||atrial extrasystole D018880||atrial extrasystoles D018880||atrial premature complex D018880||atrial premature complices D018880||ectopic beat atrial D018880||ectopic beats atrial D018880||extrasystole atrial D018880||extrasystoles atrial D018880||premature atrial beat D018880||premature atrial beats D018880||premature atrial complex D018880||premature atrial complices D018880||premature atrial contraction D018880||premature atrial contractions D018880||premature complex atrial D018880||premature complexes atrial D018880||premature complices atrial D018880||premature supraventricular beat D018880||premature supraventricular beats D018880||supraventricular beat premature D018880||supraventricular beats premature D000742|105600||anemia dyserythropoietic congenital D000742|105600||anemia congenital dyserythropoietic D000742|105600||anemia congenital dyserythropoietic type i D000742|105600||anemia congenital dyserythropoietic type ia D000742|105600||anemia congenital dyserythropoietic type ii D000742|105600||anemia congenital dyserythropoietic type iii D000742|105600||anemia congenital dyserythropoietic type iv D000742|105600||anemia dyserythropoietic congenital type 1 D000742|105600||anemia dyserythropoietic congenital type 2 D000742|105600||anemia dyserythropoietic congenital type i D000742|105600||anemia dyserythropoietic congenital type ii D000742|105600||anemia dyserythropoietic congenital type iii D000742|105600||anemias congenital dyserythropoietic D000742|105600||anemia with multinucleated erythroblasts D000742|105600||cda ia D000742|105600||cda ii D000742|105600||cda iii D000742|105600||cdan1a D000742|105600||cdan2 D000742|105600||cdan3 D000742|105600||cdan4 D000742|105600||cda type iv D000742|105600||congenital dyserythropoietic anemia D000742|105600||congenital dyserythropoietic anemias D000742|105600||congenital dyserythropoietic anemia type 1 D000742|105600||congenital dyserythropoietic anemia type i D000742|105600||congenital dyserythropoietic anemia type ii D000742|105600||congenital dyserythropoietic anemia type iii D000742|105600||dyserythropoietic anemia congenital D000742|105600||dyserythropoietic anemia congenital type 1 D000742|105600||dyserythropoietic anemia congenital type 2 D000742|105600||dyserythropoietic anemia congenital type i D000742|105600||dyserythropoietic anemia congenital type ia D000742|105600||dyserythropoietic anemia congenital type ii D000742|105600||dyserythropoietic anemia congenital type iii D000742|105600||dyserythropoietic anemia hempas type D000742|105600||dyserythropoietic anemias congenital D000742|105600|C566285||erythroreticulosis hereditary benign D000742|105600||hempas D000742|105600||hempas anemia D000742|105600||hempas anemias D000742|105600||hereditary erythroblastic multinuclearity with positive acidified serum test D000742|105600||hereditary erythroblast multinuclearity with positive acidified serum D000742|105600||type i congenital dyserythropoietic anemia D018882||heat stress disorders D018882||cramp heat D018882||cramps heat D018882||disorder heat stress D018882||disorders heat stress D018882||heat cramp D018882||heat cramps D018882||heat stress disorder D018882||heat stress syndrome D018882||heat stress syndromes D018882||stress disorder heat D018882||stress disorders heat D018882||stress syndrome heat D018882||stress syndromes heat D018882||syndrome heat stress D018882||syndromes heat stress C538153||syndactyly type 2 C538153||synpolydactyly C565734||cortical defects wormian bones and dentinogenesis imperfecta D046110||hypertension pregnancy induced D046110||gestational hypertension D046110||hypertension gestational D046110||hypertension pregnancy transient D046110||hypertensions pregnancy induced D046110||induced hypertension pregnancy D046110||induced hypertensions pregnancy D046110||pregnancy induced hypertension D046110||pregnancy transient hypertension D046110||transient hypertension pregnancy C564403||coenzyme q10 deficiency C564403||coenzyme q deficiency C564403||coq10 deficiency primary C564403||coq deficiency C564403||ubiquinone deficiency D004239||diverticulitis colonic D004239||colonic diverticulitis C538158||mcdonough syndrome C538158||mental retardation peculiar facies kyphoscoliosis diastasis recti cryptorchidism and congenital heart defect C567403|612165||retinitis pigmentosa 29 C567403|612165||rp29 C565730||diabetes mellitus congenital autoimmune C565739||asthma and nasal polyps C564407||hydrocephalus with cerebellar agenesis C564406||hypogonadism male with mental retardation and skeletal anomalies D004238||diverticulitis D004238||diverticulitides C564405||hypouricemia familial renal due to tubular hypersecretion 190351|C566033||trichorhinophalangeal syndrome type iii 190351|C566033||sugio kajii syndrome 190351|C566033||trps3 C538152||filippi syndrome C538152||syndactyly type i with microcephaly and mental retardation C565735||becker nevus syndrome C565736||hydronephrosis congenital with cleft palate characteristic facies hypotonia and mental retardation C565736||okamoto syndrome C536159|308800||keratosis follicularis spinulosa decalvans x linked C536159|308800||keratosis follicularis spinulosa decalvans C536159|308800||keratosis follicularis spinulosa decalvans cum ophiasi C536159|308800||kfsdx C566284|105800||aneurysm intracranial berry 1 C566284|105800||aneurysmal subarachnoid hemorrhage familial C566284|105800||anib1 C564409||holoprosencephaly with fetal akinesia hypokinesia sequence C565738||bardet biedl syndrome 6 C564408||hydrocephalus x linked with congenital idiopathic intestinal pseudoobstruction 256810||mitochondrial dna depletion syndrome 6 hepatocerebral type 256810|C538344||mtdps6 256810|C538344||navajo neurohepatopathy 256810||navajo neuropathy nn navajo familial neurogenic arthropathy included 256810||nnh D004241||diverticulum colon D004241||colon diverticula D004241||colon diverticulum D004241||colonic diverticula D004241||colonic diverticulum D004241||diverticula colon D004241||diverticula colonic D004241||diverticulum colonic D004240||diverticulum D004240||diverticula D004240||diverticulosis 115650||cataract 32 multiple types 115650||cap 115650|C538282||cataract anterior polar 115650|C538282||cataract anterior polar 1 115650|C535340||cataract posterior polar 5 115650||ctaa1 115650||ctpp5 115650||ctrct32 D017545||aortic aneurysm thoracic D017545||aneurysms thoracoabdominal aortic D017545||aneurysm thoracic aortic D017545||aneurysm thoracoabdominal aortic D017545||aortic aneurysms thoracic D017545||aortic aneurysms thoracoabdominal D017545||aortic aneurysm thoracoabdominal D017545||thoracic aortic aneurysm D017545||thoracic aortic aneurysms D017545||thoracoabdominal aortic aneurysm D017545||thoracoabdominal aortic aneurysms D018877||sick building syndrome D018877||syndrome sick building C535739|212065||congenital disorder of glycosylation type 1a C535739|212065||carbohydrate deficient glycoprotein syndrome type 1a C535739|212065||carbohydrate deficient glycoprotein syndrome type ia C535739|212065||carbohydrate deficient glycoprotein syndrome type ia formerly C535739|212065||cdg1a C535739|212065||cdgia C535739|212065||cdg ia C535739|212065||congenital disorder of glycosylation type ia C535739|212065||jaeken syndrome C535739|212065||phosphomannomutase 2 deficiency D018876||environmental illness D018876||environmental hypersensitivities D018876||environmental hypersensitivity D018876||environmental illnesses D018876||hypersensitivities environmental D018876||hypersensitivity environmental D018876||illness environmental D018876||illnesses environmental D018879||ventricular premature complexes D018879||ectopic beats ventricular D018879||ectopic beat ventricular D018879||extrasystole ventricular D018879||premature ventricular beat D018879||premature ventricular beats D018879||premature ventricular complex D018879||premature ventricular contraction D018879||premature ventricular contractions D018879||ventricular beat premature D018879||ventricular beats premature D018879||ventricular complex premature D018879||ventricular contraction premature D018879||ventricular contractions premature D018879||ventricular ectopic beat D018879||ventricular ectopic beats D018879||ventricular extrasystole D018879||ventricular extrasystoles D018879||ventricular premature complex D017541||aneurysm false D017541||aneurysms false D017541||false aneurysm D017541||false aneurysms D017541||pseudoaneurysm D017541||pseudoaneurysms D017542||aneurysm ruptured D017542||aneurysms ruptured D017542||ruptured aneurysm D017542||ruptured aneurysms D017543||iliac aneurysm D017543||aneurysm iliac D017543||aneurysms iliac D017543||iliac aneurysms D017544||aortic aneurysm abdominal D017544|100070||abdominal aortic aneurysm D017544||abdominal aortic aneurysms D017544|100070||aneurysm abdominal aortic D017544||aneurysms abdominal aortic D017544||aortic aneurysms abdominal C536457|124500||vohwinkel syndrome C536457|124500||congenital deafness with keratopachydermia and constrictions of fingers and toes C536457|124500||deafness congenital with keratopachydermia and constrictions of fingers and toes C536457|124500||keratoderma hereditarium mutilans C536457|124500||khm C536457|124500||mutilating keratoderma C536457|124500||palmoplantar keratoderma mutilans C536457|124500||palmoplantar keratoderma mutilans vohwinkel C536457|124500||ppk mutilans vohwinkel C535380|301830||arthrogryposis multiplex congenita distal x linked C535380|301830||amc distal x linked C535380|301830||amcx1 C535380|301830||arthrogryposis x linked type i C535380|301830||smax2 C535380|301830||spinal muscular atrophy infantile x linked C535380|301830||spinal muscular atrophy x linked 2 C535380|301830||spinal muscular atrophy x linked lethal infantile C535380|301830||xlsma D006869||hydronephrosis D006869||hydronephroses D005534||foot diseases D005534||disease foot D005534||diseases foot D005534||foot disease D005533||foot dermatoses D005533||dermatoses foot D005533||dermatosis foot D005533||foot dermatosis D005536||foot and mouth disease D005536||disease foot and mouth D005536||diseases foot and mouth D005536||foot and mouth diseases D004204||dislocations D004204||dislocation 217300|C565677||cornea plana 2 217300|C565677||cna2 D005535||foot rot D005535||foot rots D005535||rot foot D005535||rots foot D005530||foot deformities D005530||cavus deformities D005530||cavus deformity D005530||deformities cavus D005530||deformities foot D005530||deformities metatarsal D005530||deformity cavus D005530||deformity foot D005530||deformity metatarsal D005530||foot deformity D005530||metatarsal deformities D005530||metatarsal deformity D005530||pes cavus D005530||talipes cavus D060426||anti n methyl d aspartate receptor encephalitis D060426||anti nmda receptor encephalitides D060426||anti nmda receptor encephalitis D060426||anti nmdar encephalitides D060426||anti nmdar encephalitides non paraneoplastic D060426||anti nmdar encephalitides paraneoplastic D060426||anti nmdar encephalitis D060426||anti nmdar encephalitis non paraneoplastic D060426||anti nmdar encephalitis paraneoplastic D060426||anti n methyl d aspartate receptor encephalitides D060426||encephalitides anti nmdar D060426||encephalitides anti nmda receptor D060426||encephalitides anti n methyl d aspartate receptor D060426||encephalitides non paraneoplastic anti nmdar D060426||encephalitides paraneoplastic anti nmdar D060426||encephalitis anti nmdar D060426||encephalitis anti nmda receptor D060426||encephalitis anti n methyl d aspartate receptor D060426||encephalitis non paraneoplastic anti nmdar D060426||encephalitis paraneoplastic anti nmdar D060426||non paraneoplastic anti nmda receptor encephalitis D060426||non paraneoplastic anti nmdar encephalitides D060426||non paraneoplastic anti nmdar encephalitis D060426||non paraneoplastic anti n methyl d aspartate receptor encephalitis D060426||paraneoplastic anti nmda receptor encephalitis D060426||paraneoplastic anti nmdar encephalitides D060426||paraneoplastic anti nmdar encephalitis D060426||paraneoplastic anti n methyl d aspartate receptor encephalitis D060426||receptor encephalitides anti nmda D060426||receptor encephalitis anti nmda D005532||foot deformities congenital D005532||congenital foot deformities D005532||congenital foot deformity D005532||deformities congenital foot D005532||deformity congenital foot D005532||foot deformity congenital D060425||cerebral phaeohyphomycosis D060425||central nervous system phaeohyphomycosis D060425||central nervous system phaeohyphomycosis primary D060425||cerebral phaeohyphomycoses D060425||phaeohyphomycoses cerebral D060425||phaeohyphomycosis central nervous system D060425||phaeohyphomycosis central nervous system primary D060425||phaeohyphomycosis cerebral D060425||primary central nervous system phaeohyphomycosis D004200||diseases in twins D004200||diseases in twin D004200||in twin diseases D004200||in twins diseases D004200||twin diseases in D004200||twins diseases in D005531||foot deformities acquired D005531||acquired foot deformities D005531||acquired foot deformity D005531||deformities acquired foot D005531||deformity acquired foot D005531||foot deformity acquired D029502|D029503|105650||anemia hypoplastic congenital D029502||anemia congenital hypoplastic D029502||anemias congenital hypoplastic D029502||congenital hypoplastic anemia D029502||congenital hypoplastic anemias D029502||hypoplastic anemia congenital D029502||hypoplastic anemias congenital C563538|613426||cardiomyopathy dilated 1s C563538|613426||cmd1s C563538|613426||left ventricular noncompaction 5 included C563538|613426||lvnc5 included D017512||lichenoid eruptions D017512||eruption licheniform D017512||eruption lichenoid D017512||eruptions licheniform D017512||eruptions lichenoid D017512||licheniform eruption D017512||licheniform eruptions D017512||lichenoid eruption D017513||lichen nitidus D017514||pityriasis lichenoides D017514||acute pityriasis lichenoides D017514||chronic pityriasis lichenoides D017514||disease habermann D017514||disease habermann apos s D017514||disease mucha habermann D017514||habermann disease D017514||habermann apos s disease D017514||habermanns disease D017514||mucha habermann disease D017514||pityriasis lichenoides acute D017514||pityriasis lichenoides chronic D017514||pityriasis lichenoides chronica D017514||pityriasis lichenoides et varioliformis acuta 172700|D020774||pick disease of the brain 172700|D020774||atrophies lobar brain 172700|D020774||atrophy lobar brain 172700|D020774||brain atrophy circumscribed lobar 172700|D020774||circumscribed lobar atrophy of the brain 172700|D020774||dementia with lobar atrophy and neuronal cytoplasmic inclusions 172700|D020774||disease pick 172700|D020774||disease pick apos s 172700|D020774||lobar atrophies brain 172700|D020774||lobar atrophy brain 172700|D020774||lobar atrophy of brain 172700|D020774||lobar atrophy of the brain 172700|D020774||pick disease 172700|D020774||pick disease of brain 172700|D020774||pick apos s disease 172700|D020774||picks disease 172700|D020774||picks disease of brain D017515||pityriasis rosea 153600|D008258||waldenstrom macroglobulinemia 153600|D008258||familial waldenstrom macroglobulinaemia 153600|D008258||familial waldenstrom apos s macroglobulinaemia 153600|D008258||familial waldenstroms macroglobulinaemia 153600|D008258||lymphoma lymphocytic plasmacytoid 153600|D008258||lymphoma lymphoplasmacytoid 153600|D008258||lymphomas lymphoplasmacytoid 153600|D008258||lymphoplasmacytoid lymphoma 153600|D008258||lymphoplasmacytoid lymphomas 153600|D008258||macroglobulinaemia familial waldenstrom apos s 153600|D008258||macroglobulinaemia waldenstrom apos s 153600|D008258||macroglobulinemia 153600|D008258||macroglobulinemia primary 153600|D008258||macroglobulinemia waldenstrom 153600|D008258||macroglobulinemia waldenstrom apos s 153600|D008258||macroglobulinemia waldenstrom somatic included 153600|D008258||macroglobulinemia waldenstrom susceptibility to 1 153600|D008258||macroglobulinemia waldenstrom susceptibility to 2 153600|D008258||primary macroglobulinemia 153600|D008258||waldenstrom macroglobulinaemia 153600|D008258||waldenstrom apos s macroglobulinaemia 153600|D008258||waldenstroms macroglobulinaemia 153600|D008258||waldenstrom apos s macroglobulinaemia familial 153600|D008258||waldenstrom apos s macroglobulinemia 153600|D008258||waldenstroms macroglobulinemia 153600|D008258||wm1 153600|D008258||wm2 C536174|604809||diffuse panbronchiolitis C536174|604809||dpb C536174|604809||panbronchiolitis diffuse C536174|604809||pblt C563975|600209||exostoses multiple type iii C563975|600209||ext3 D017511||pyoderma gangrenosum 251260|D049932||nijmegen breakage syndrome 251260|D049932||ataxia telangiectasia variant 1 251260|D049932||ataxia telangiectasia variant 1s 251260|D049932||ataxia telangiectasia variant v1 251260|D049932||ataxia telangiectasia variant v1s 251260|D049932||ataxia telangiectasia variant v2 included 251260|D049932||at v1 251260|D049932||at v2 included 251260|D049932||bbs included 251260|D049932||berlin breakage syndrome 251260|D049932||breakage syndrome berlin 251260|D049932||breakage syndrome nijmegen 251260|D049932||immunodeficiency microcephaly and chromosomal instability 251260|D049932||immunodeficiency microcephaly and chromosomal instability berlin breakage syndrome included 251260|D049932||microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies 251260|D049932||nbs 251260|D049932||nonsyndromal microcephaly autosomal recessive with normal intelligence 251260|D049932||seemanova syndrome 2 251260|D049932||seemanova syndrome ii 251260|D049932||syndrome berlin breakage 251260|D049932||syndrome nijmegen breakage 251260|D049932||variant 1s ataxia telangiectasia 251260|D049932||variant v1 ataxia telangiectasia 251260|D049932||variant v1s ataxia telangiectasia D013274|137215||stomach neoplasms D013274|137215||cancer gastric D013274|137215||cancer of stomach D013274|137215||cancer of the stomach D013274|137215||cancers gastric D013274|137215||cancers stomach D013274|137215||cancer stomach D013274|137215||gastric cancer D013274|137215||gastric cancer familial diffuse D013274|137215||gastric cancer familial diffuse and cleft lip with or without cleft palate included D013274|137215||gastric cancer familial diffuse breast cancer lobular included D013274|137215||gastric cancer hereditary diffuse D013274|137215||gastric cancer intestinal included D013274|137215||gastric cancers D013274|137215||gastric neoplasm D013274|137215||gastric neoplasms D013274|137215||hdgc D013274|137215||lbc included D013274|137215||neoplasm gastric D013274|137215||neoplasms gastric D013274|137215||neoplasms stomach D013274|137215||neoplasm stomach D013274|137215||stomach cancer D013274|137215||stomach cancers D013274|137215||stomach neoplasm D018860||sneddon syndrome D018860||livedo reticularis and cerebrovascular accidents D018860||livedo reticularis systemic involvement D018860||sneddon champion syndrome D018860||syndrome sneddon D018860||syndrome sneddon champion D005549||foreign body reaction D005549||reaction foreign body D005548||foreign body migration D005548||foreign body migrations D005548||migration foreign body D005548||migrations foreign body C537627|245010||keratosis palmoplantaris with periodontopathia and onychogryposis C537627|245010||cochin jewish disorder C537627|245010||haim munk syndrome C537627|245010||hms D004213||dissociative disorders D004213||disorder dissociative D004213||disorders dissociative D004213||dissociation D004213||dissociative disorder D004213||dissociative hysteria D004213||dissociative reaction D004213||dissociative reactions D004213||fugue D004213||hysteria dissociative D004213||hysterias dissociative D004213||reaction dissociative D004213||reactions dissociative D004216||distemper D004216||canine distemper D004216||canine distempers D004216||distemper canine D004216||distempers D004216||distempers canine D005547||foreign bodies D005547||bodies foreign D005547||body foreign D005547||foreign body 313000||spatial visualization aptitude for 313000||visuospatial perceptual abilities vspa turner syndrome associated neurocognitive phenotype included D006876||hydrothorax D060437||artificial lens implant migration D060437||artificial intra ocular implant dislocation D060437||artificial lens implant dislocation 607731|C535415||charcot marie tooth disease type 2h 607731|C535415||charcot marie tooth disease axonal type 2h 607731|C535415||charcot marie tooth disease axonal with pyramidal features autosomal recessive 607731|C535415||charcot marie tooth neuropathy axonal with pyramidal features autosomal recessive 607731|C535415||cmt2h D005543||forearm injuries D005543||forearm injury D005543||injuries forearm D005543||injury forearm D006871||hydrophthalmos D006871||buphthalmos D004211||disseminated intravascular coagulation D004211||coagulation disseminated intravascular D004211||coagulation intravascular disseminated D004211||coagulations disseminated intravascular D004211||coagulations intravascular disseminated D004211||coagulopathies consumption D004211||coagulopathy consumption D004211||consumption coagulopathies D004211||consumption coagulopathy D004211||disseminated coagulation intravascular D004211||disseminated coagulations intravascular D004211||disseminated intravascular coagulations D004211||intravascular coagulation disseminated D004211||intravascular coagulations disseminated D004211||intravascular disseminated coagulation D004211||intravascular disseminated coagulations D006872||hydropneumothorax D059445||anhedonia D059445||anhedonia physical D059445||anhedonias D059445||anhedonia social D059445||anhedonias physical D059445||anhedonias social D059445||physical anhedonia D059445||physical anhedonias D059445||social anhedonia D059445||social anhedonias 144120|C564173||hyperimmunoglobulin g1 a1 syndrome 144120|C564173||ighr 144120|C564173||immunoglobulin heavy chain regulator included D018856||cystitis interstitial D018856||chronic interstitial cystitides D018856||chronic interstitial cystitis D018856||cystitides chronic interstitial D018856||cystitides interstitial D018856||cystitis chronic interstitial D018856||interstitial cystitides D018856||interstitial cystitides chronic D018856||interstitial cystitis D018856||interstitial cystitis chronic D018856||painful bladder syndrome D017520||mucinoses D017520||mucinosis C538100||pagon stephan syndrome C538100||septo optic dysplasia with digital anomalies C538105||pallister killian syndrome C538105||hexasomy 12p mosaic C538105||isochromosome 12p syndrome C538105||pallister killian mosaic syndrome C538105||teschler nicola killian syndrome C538105||tetrasomy 12p mosaic D006848||testicular hydrocele D006848||hydrocele scrotal D006848||hydroceles scrotal D006848||hydroceles testicular D006848||hydroceles vaginal D006848||hydrocele testicular D006848||hydrocele vaginal D006848||scrotal hydrocele D006848||scrotal hydroceles D006848||testicular hydroceles D006848||vaginal hydrocele D006848||vaginal hydroceles C538103||palindromic rheumatism C538103||palindromic rheumatism syndrome C538102||palant cleft palate syndrome C538102||unusual facies cleft palate mental retardation and limb abnormalities D005517||foodborne diseases D005517||disease foodborne D005517||disease food borne D005517||diseases foodborne D005517||diseases food borne D005517||food borne disease D005517||foodborne disease D005517||food borne diseases D005517||food borne illnesses D005517||foodborne illnesses D005517||food poisoning D005517||food poisonings D005517||illnesses foodborne D005517||illnesses food borne D005517||poisoning food D005517||poisonings food D005512||food hypersensitivity D005512||allergies food D005512||allergy food D005512||food allergies D005512||food allergy D005512||food hypersensitivities D005512||hypersensitivities food D005512||hypersensitivity food 600740|C537147||familial benign hypercalcemia type 3 600740|C537147||familial benign hypercalcemia oklahoma variant 600740|C537147||familial benign hypercalcemia type iii 600740|C537147||fbh3 600740|C537147||hhc3 600740|C537147||hypercalcemia familial benign oklahoma type 600740|C537147||hypercalcemia familial benign type 3 600740|C537147||hypercalcemia familial benign type iii 600740|C537147||hypocalciuric hypercalcemia familial type 3 600740|C537147||hypocalciuric hypercalcemia familial type iii C566446|610093||microphthalmia isolated 2 C566446|610093||mcop2 D034081||wasting disease chronic D034081||chronic wasting disease D060446||phaeohyphomycosis D060446||cutaneous phaeohyphomycoses D060446||cutaneous phaeohyphomycosis D060446||phaeohyphomycoses D060446||phaeohyphomycoses cutaneous D060446||phaeohyphomycoses subcutaneous D060446||phaeohyphomycosis cutaneous D060446||phaeohyphomycosis subcutaneous D060446||subcutaneous phaeohyphomycoses D060446||subcutaneous phaeohyphomycosis C537686|601349||microcephaly microphthalmia ectrodactyly of lower limbs and prognathism C537686|601349||mcops8 C537686|601349||microphthalmia syndromic 8 C537686|601349||mmep C537111|211530||brown vialetto van laere syndrome C537111|211530||brown vialetto van laere syndrome 1 C537111|211530||bulbar palsy progressive with sensorineural deafness C537111|211530||bvvls1 C537111|211530||pontobulbar palsy and neurosensory deafness C537111|211530||pontobulbar palsy with deafness C537111|211530||progressive bulbar palsy with sensorineural deafness C564622|607116||alzheimer disease 8 C564622|607116||ad8 C564622|607116||alzheimer disease familial 8 D018827||carcinoma lewis lung D018827||lewis lung carcinoma D018827||lung carcinoma lewis 611107|C567008||mental retardation autosomal recessive 4 611107|C567008||mrt4 D046151||lingual thyroid D046151||lingual thyroids D046151||thyroid lingual D046151||thyroids lingual D047489||preconception injuries D047489||injuries preconception D047489||injury preconception D047489||preconception injury C538112||hernandez aguirre negrete syndrome C538112||ehlers danlos syndrome with progeroid facies and mild mental retardation C538112||hern 225 ndez aguirre negrete syndrome C538110||pancreatic adenoma C538115||heterochromia iridis C538115||asymmetry in the pigmentation of the irides C538115||pigmentary abnormality of the anterior segment of the eye C537394|243180||neuronal intestinal pseudoobstruction C537394|243180||argyrophil myenteric plexus deficiency of C537394|243180||intestinal pseudoobstruction due to neuronal disease C537394|243180||neuronal intestinal dysplasia type a C537394|243180||neuronal intestinal dysplasia type b C537394|243180||nid a included C537394|243180||nid b C537394|243180||pseudoobstruction chronic idiopathic intestinal neuronal type C537394|243180||pseudoobstruction chronic idiopathic intestinal neuronal type neuronal intestinal dysplasia type a included C537394|243180||visceral neuropathy familial autosomal recessive C538114||hersh podruch weisskopk syndrome C538114||toluene embryopathy C538113||herrmann syndrome C538113||photomyoclonus diabetes mellitus deafness nephropathy and cerebral dysfunction C564461|301220||pigmentary disorder reticulate with systemic manifestations C564461|301220||amyloidosis familial cutaneous C564461|301220||pdr C567681|613255||cardiomyopathy familial hypertrophic 15 C567681|613255||cmh15 D059466||white coat hypertension D059466||clinic hypertension isolated D059466||hypertension isolated clinic D059466||hypertension white coat D059466||isolated clinic hypertension D059466||syndrome white coat D059466||white coat syndrome C535941|302950||chondrodysplasia punctata brachytelephalangic C535941|302950||brachytelephalangic chondrodysplasia punctata C535941|302950|C580533||cdpx1 C535941|302950||chondrodysplasia punctata 1 x linked recessive C535941|302950||chondrodysplasia punctata brachytelephalangic autosomal C535941|302950||cpxr D059468||masked hypertension D059468||hypertension masked D059468||hypertensions masked D059468||masked hypertensions C538109||pancreas agenesis dorsal C538109||agenesis of the dorsal pancreas C538109||pancreas dorsal agenesis of C538107||palmer pagon syndrome C536690|604454||welander distal myopathy swedish type C536690|604454||distal myopathy swedish type C536690|604454|D049310|160500||muscular dystrophy distal late onset autosomal dominant C536690|604454|D049310|160500||myopathy distal swedish C536690|604454||wdm C536690|604454|D049310|160500||welander distal myopathy C538106||pallister w syndrome C538106||median cleft upper lip mental retardation and pugilistic facies C538106||w syndrome D006949||hyperlipidemias D006949||hyperlipemia D006949||hyperlipemias D006949||hyperlipidemia D006949||lipemia D006949||lipemias D006949||lipidemia D006949||lipidemias D006947||hyperkalemia D006947||hyperkalemias D006947||hyperpotassemia D006947||hyperpotassemias D006948||hyperkinesis D006948||generalized hyperkinesia D006948||generalized hyperkinesias D006948||hyperactivity motor D006948||hyperkinesia D006948||hyperkinesia generalized D006948||hyperkinesias generalized D006948||hyperkinetic movement D006948||hyperkinetic movements D006948||motor hyperactivity D006948||movement hyperkinetic D006948||movements hyperkinetic D031901|D006828|231090||gestational trophoblastic disease D031901||disease gestational trophoblastic D031901||diseases gestational trophoblastic D031901||gestational trophoblastic diseases D031901||gestational trophoblastic neoplasia D031901||gestational trophoblastic neoplasm D031901||gestational trophoblastic neoplasms D031901||neoplasia gestational trophoblastic D031901||neoplasm gestational trophoblastic D031901||neoplasms gestational trophoblastic D031901||trophoblastic disease gestational D031901||trophoblastic diseases gestational D031901||trophoblastic neoplasia gestational D031901||trophoblastic neoplasm gestational D031901||trophoblastic neoplasms gestational D006945||hyperhidrosis D006946||hyperinsulinism D006946||compensatory hyperinsulinemia D006946||endogenous hyperinsulinism D006946||exogenous hyperinsulinism D006946||hyperinsulinemia D006946||hyperinsulinemia compensatory D006946||hyperinsulinism endogenous D006946||hyperinsulinism exogenous C570377||benign pseudohypertrophic muscular dystrophy D005611||freemartinism D006943||hyperglycemia D006943||hyperglycemia postprandial D006943||hyperglycemias D006943||hyperglycemias postprandial D006943||postprandial hyperglycemia D006943||postprandial hyperglycemias D006944||hyperglycemic hyperosmolar nonketotic coma D006944||coma hyperglycemic hyperosmolar nonketotic D006944||coma nonketotic hyperglycemic D006944||hyperglycemic coma nonketotic D006944||hyperosmolar hyperglycemic nonketotic coma D006944||nonketotic hyperglycemic coma D006941||hyperesthesia D006941||hyperesthesias D006941||hyperesthesias tactile D006941||hyperesthesias thermal D006941||hyperesthesia tactile D006941||hyperesthesia thermal D006941||hyperesthetic sensation D006941||hyperesthetic sensations D006941||oxyesthesia D006941||oxyesthesias D006941||sensation hyperesthetic D006941||sensations hyperesthetic D006941||tactile hyperesthesia D006941||tactile hyperesthesias D006941||thermal hyperesthesia D006941||thermal hyperesthesias C562787|176400||precocious puberty central C562787|176400||cppb1 C562787|176400||precocious puberty central 1 D006942||hypergammaglobulinemia D006942||hypergammaglobulinemias D006942||hyperimmunoglobulinemia D006942||hyperimmunoglobulinemias C537168|120330||papillorenal syndrome C537168|120330||cakut with ocular abnormalities C537168|120330||coloboma of optic nerve with renal disease C537168|120330||coloboma ureteral renal syndrome C537168|120330||congenital anomalies of the kidney and urinary tract with ocular abnormalities C537168|120330||optic coloboma vesicoureteral reflux and renal anomalies C537168|120330||optic nerve coloboma renal syndrome C537168|120330||optic nerve coloboma with renal disease C537168|120330||paprs C537168|120330||renal coloboma syndrome C537168|120330||renal coloboma syndrome with macular abnormalities C537168|120330||renal hypoplasia isolated D006940||hyperemia D006940||active hyperemia D006940||arterial hyperemia D006940||congestion venous D006940||engorgement venous D006940||hyperemia active D006940||hyperemia arterial D006940||hyperemia passive D006940||hyperemia reactive D006940||hyperemias D006940||hyperemias reactive D006940||passive hyperemia D006940||reactive hyperemia D006940||reactive hyperemias D006940||venous congestion D006940||venous engorgement D061686||premature ejaculation D061686||ejaculation premature D061686||ejaculations premature D061686||ejaculatio praecox D061686||ejaculatio praecoxs D061686||praecox ejaculatio D061686||praecoxs ejaculatio D061686||premature ejaculations C567470|300716||mental retardation x linked 95 C567470|300716||mrx95 607053||high density lipoprotein cholesterol level quantitative trait locus 2 607053||hdlcq2 D014897|158600||spinal muscular atrophies of childhood D014897|158600||atrophies infantile muscular D014897|158600||atrophies juvenile muscular D014897|158600||atrophy infantile muscular D014897|158600||atrophy juvenile muscular D014897|158600||hmn hereditary motor neuropathy proximal type i D014897|158600||hoffman diseases werdnig D014897|158600||hoffman disease werdnig D014897|158600||infantile muscular atrophies D014897|158600||infantile muscular atrophy D014897|158600||infantile spinal muscular atrophy D014897|158600||juvenile muscular atrophies D014897|158600||juvenile muscular atrophy D014897|158600||juvenile spinal muscular atrophy D014897|158600||kugelberg welander disease D014897|158600||kugelberg welander syndrome D014897|158600|C563560||kugelberg welander syndrome autosomal dominant D014897|158600||kugelberg welander syndromes D014897|158600||kws D014897|158600||muscular atrophies juvenile D014897|158600||muscular atrophy infantile D014897|158600||muscular atrophy juvenile D014897|158600||muscular atrophy spinal infantile D014897|158600|C536879||muscular atrophy spinal infantile chronic form D014897|158600|C536879||muscular atrophy spinal intermediate type D014897|158600||muscular atrophy spinal type i D014897|158600||muscular atrophy spinal type ii D014897|158600||muscular atrophy spinal type iii D014897|158600||proximal hereditary motor neuropathy type i D014897|158600||sma1 D014897|158600||sma2 D014897|158600||sma3 D014897|158600||sma i D014897|158600||sma ii D014897|158600||sma iii D014897|158600||sma infantile acute form D014897|158600||sma led D014897|158600||smaled1 D014897|158600||spinal muscular atrophy 1 D014897|158600|C563560||spinal muscular atrophy childhood proximal autosomal dominant D014897|158600||spinal muscular atrophy infantile D014897|158600||spinal muscular atrophy juvenile D014897|158600|C563560||spinal muscular atrophy juvenile proximal autosomal dominant D014897|158600||spinal muscular atrophy lower extremity predominant 1 autosomal dominant D014897|158600||spinal muscular atrophy mild childhood and adolescent form D014897|158600||spinal muscular atrophy type 2 D014897|158600||spinal muscular atrophy type 3 D014897|158600||spinal muscular atrophy type i D014897|158600||spinal muscular atrophy type ii D014897|158600||spinal muscular atrophy type iii D014897|158600||type iii spinal muscular atrophy D014897|158600||type ii spinal muscular atrophy D014897|158600||type i spinal muscular atrophy D014897|158600||werdnig hoffman disease D014897|158600||werdnig hoffman diseases D014897|158600||werdnig hoffmann disease D006828|231090||hydatidiform mole D006828|231090|303100|D015794||chm D006828|231090||complete hydatidiform mole D006828|231090||complete hydatidiform moles D006828|231090||hydatidiform mole complete D006828|231090||hydatidiform mole partial D006828|231090||hydatidiform mole recurrent 1 D006828|231090||hydatidiform moles D006828|231090||hydatidiform moles complete D006828|231090||hydatidiform moles partial D006828|231090||hydatid mole D006828|231090||hydatid moles D006828|231090||hydm D006828|231090||hydm1 D006828|231090||molar pregnancies D006828|231090||molar pregnancy D006828|231090||mole complete hydatidiform D006828|231090||mole hydatid D006828|231090||mole hydatidiform D006828|231090||mole partial hydatidiform D006828|231090||moles complete hydatidiform D006828|231090||moles hydatid D006828|231090||moles hydatidiform D006828|231090||moles partial hydatidiform D006828|231090||partial hydatidiform mole D006828|231090||partial hydatidiform moles D006828|231090||pregnancies molar D006828|231090||pregnancy molar D006210|234100||hallermann apos s syndrome D006210|234100||dyscephalic syndrome francois D006210|234100||dyscephalic syndromes francois D006210|234100||francois dyscephalic syndrome D006210|234100||francois dyscephalic syndromes D006210|234100||hallermanns syndrome D006210|234100||hallermann streiff francois syndrome D006210|234100||hallermann streiff syndrome D006210|234100||hallermann syndrome D006210|234100||hss D006210|234100||syndrome francois dyscephalic D006210|234100||syndrome hallermann apos s D006210|234100||syndrome hallermann streiff D006210|234100||syndromes francois dyscephalic D059352||musculoskeletal pain D059352||musculoskeletal pains D059352||pain musculoskeletal D059352||pains musculoskeletal 178300|C566737||ptosis hereditary congenital 1 178300|C566737||ptos1 D018921||leukostasis D018921||leukostases D018921||leukostasis syndrome D018921||leukostasis syndromes D018921||syndrome leukostasis D018921||syndromes leukostasis C566429|602685||mental retardation severe with spasticity and pigmentary tapetoretinal degeneration C566429|602685||mrst D018923||persian gulf syndrome D018923||gulf war syndrome D018923||syndrome gulf war D018923||syndrome persian gulf C535414|608591||charcot marie tooth disease type 2g C535414|608591||charcot marie tooth disease axonal type 2g C535414|608591|607706||charcot marie tooth disease axonal with vocal cord paresis autosomal recessive C535414|608591||charcot marie tooth neuropathy type 2g C535414|608591||cmt2g C535414|608591||cmt 2g C564706|606451||deafness autosomal dominant 30 C564706|606451||dfna30 D006959||hyperoxaluria D006959||oxalosis D006959||oxaluria D006956||hyperopia D006956||farsightedness D006956||hypermetropia D005627||frostbite D005627||frostbites D006957||hyperostosis frontalis interna D006957||leontiasis ossium D006957||morgagni stewart morel syndrome D006957||syndrome morgagni stewart morel D005621||friedreich ataxia D005621||ataxia friedreich D005621||ataxia friedreich familial D005621||ataxia friedreich hereditary D005621||ataxia friedreich apos s D005621||ataxia friedreich apos s familial D005621||ataxia friedreich apos s hereditary D005621||ataxia friedreich spinocerebellar D005621||ataxias friedreich D005621||ataxias friedreich apos s hereditary D005621||disease friedreich D005621||disease friedreich apos s D005621||familial ataxia friedreich D005621||familial ataxia friedreich apos s D005621||friedreich ataxias D005621||friedreich disease D005621||friedreich familial ataxia D005621||friedreich hereditary ataxia D005621||friedreich hereditary spinal ataxia D005621||friedreich apos s ataxia D005621||friedreich apos s disease D005621||friedreich apos s familial ataxia D005621||friedreichs familial ataxia D005621||friedreich apos s hereditary ataxia D005621||friedreichs hereditary ataxia D005621||friedreich apos s hereditary ataxias D005621||friedreich apos s hereditary spinal ataxia D005621||friedreich spinocerebellar ataxia D005621||hereditary ataxia friedreich D005621||hereditary ataxia friedreich apos s D005621||hereditary ataxias friedreich apos s D005621||hereditary spinal ataxia friedreich D005621||hereditary spinal ataxia friedreich apos s D005621||hereditary spinal scleroses D005621||hereditary spinal sclerosis D005621||scleroses hereditary spinal D005621||sclerosis hereditary spinal D005621||spinal scleroses hereditary D005621||spinal sclerosis hereditary D005621||spinocerebellar ataxia friedreich D006955||hypernatremia D006955||hypernatremias D059373||mastodynia D059373||breast pain D059373||breast pains D059373||mammalgia D059373||mammalgias D059373||mastalgia D059373||mastalgias D059373||mastodynias D059373||pain breast D059373||pains breast D006952||hyperlipoproteinemia type iii D006952||broad beta disease D006952||broad beta hyperlipoproteinemia D006952||dysbetalipoproteinemia D006952||dysbetalipoproteinemia familial D006952||familial dysbetalipoproteinemia D006952||familial hypercholesterolemia with hyperlipemia D006952||hyperlipoproteinemia broad beta D006952||hyperlipoproteinemias type iii D006952||type iii hyperlipoproteinemia D006952||type iii hyperlipoproteinemias C566470|610478||retinal cone dystrophy 4 C566470|610478||rcd4 D006951||hyperlipoproteinemias D006951||hyperlipoproteinemia C563881|608664||seckel syndrome 3 C563881|608664||sckl3 D059369||pott puffy tumor D059369||pott apos s puffy tumor D059369||potts puffy tumor D059369||puffy tumor pott D059369||puffy tumor pott apos s D059369||tumor pott puffy D059369||tumor pott apos s puffy D059366||asthma occupational D059366||asthmas occupational D059366||occupational asthma D059366||occupational asthmas C565344|605289||split hand foot malformation 4 C565344|605289||shfm4 D017600||neuroectodermal tumor melanotic D017600||anlage tumor retinal D017600||anlage tumors retinal D017600||melanoameloblastoma D017600||melanoameloblastomas D017600||melanotic neuroectodermal tumor D017600||melanotic neuroectodermal tumors D017600||melanotic progonoma D017600||melanotic progonomas D017600||neuroectodermal tumors melanotic D017600||progonoma melanotic D017600||progonomas melanotic D017600||retinal anlage tumor D017600||retinal anlage tumors D017600||tumor melanotic neuroectodermal D017600||tumor retinal anlage D017600||tumors melanotic neuroectodermal D017600||tumors retinal anlage D018934||fournier gangrene D018934||fournier disease D018934||fournier apos s disease D018934||fourniers disease D018934||fournier apos s gangrene D018934||fourniers gangrene D018934||gangrene fournier D018934||gangrene fournier apos s D006929||hyperaldosteronism D006929||aldosteronism D006929||conn apos s syndrome D006929||conns syndrome D006929||conn syndrome D006929||hyperaldosteronism primary D006929||primary hyperaldosteronism D006929||syndrome conn D006929||syndrome conn apos s C538329|600737||inclusion body myopathy autosomal recessive C538329|600737|C536816|605820||ibm2 C538329|600737||inclusion body myopathy 2 autosomal recessive C538329|600737||inclusion body myopathy quadriceps sparing C538329|600737||qsm D006925||hymenolepiasis D006925||hymenolepiases D006925||hymenolepis infection D006925||hymenolepis infections D006925||infection hymenolepis D006925||infections hymenolepis D010192||pancreatic pseudocyst D010192||pancreatic pseudocysts D010192||pseudocyst pancreatic D010192||pseudocysts pancreatic D034161||pelvic infection D034161||infection pelvic D034161||infections pelvic D034161||pelvic infections C567505|611880||cardiomyopathy dilated 2a C567505|611880||cardiomyopathy congestive autosomal recessive C567505|611880||cmd2a C565223|609815||zygodactyly 1 C565223|609815||zd1 D060368||lobomycosis D060368||blastomycoses keloidal D060368||blastomycosis keloidal D060368||disease jorge lobo D060368||disease jorge lobo apos s D060368||jorge lobo disease D060368||jorge lobo apos s disease D060368||jorge lobos disease D060368||keloidal blastomycoses D060368||keloidal blastomycosis D060368||lacazioses D060368||lacaziosis D060368||lobomycoses D018908||muscle weakness D018908||muscle weaknesses D018908||muscular weakness D018908||muscular weaknesses D018908||weaknesses muscle D018908||weaknesses muscular D018908||weakness muscle D018908||weakness muscular 300537|C564492||heterotopia periventricular ehlers danlos variant 300537|C564492||periventricular nodular heterotopia 4 300537|C564492||pvnh4 D018902||chondrodysplasia punctata rhizomelic D018902|215100|C531651||chondrodysplasia punctata rhizomelic form D018902||chondrodysplasia punctatas rhizomelic D018902||punctata rhizomelic chondrodysplasia D018902||punctatas rhizomelic chondrodysplasia D018902||rhizomelic chondrodysplasia punctata D018902||rhizomelic chondrodysplasia punctatas D010182||pancreatic diseases D010182||disease pancreatic D010182||diseases pancreatic D010182||pancreatic disease D018901||peroxisomal disorders D018901||acidemia hyperpipecolic D018901||acidemias hyperpipecolic D018901||adrenoleukodystrophies neonatal D018901||adrenoleukodystrophy autosomal neonatal form D018901||adrenoleukodystrophy neonatal D018901||dysfunction general peroxisomal D018901||dysfunction multiple peroxisomal D018901||dysfunctions general peroxisomal D018901||dysfunction single peroxisomal D018901||dysfunctions multiple peroxisomal D018901||dysfunctions single peroxisomal D018901||general peroxisomal dysfunction D018901||general peroxisomal dysfunctions D018901||hyperpipecolatemia D018901||hyperpipecolic acidemia D018901||hyperpipecolic acidemias D018901||multiple peroxisomal dysfunction D018901||multiple peroxisomal dysfunctions D018901||neonatal adrenoleukodystrophies D018901|202370||neonatal adrenoleukodystrophy D018901||peroxisomal disorder D018901||peroxisomal dysfunction general D018901||peroxisomal dysfunction multiple D018901||peroxisomal dysfunctions general D018901||peroxisomal dysfunction single D018901||peroxisomal dysfunctions multiple D018901||peroxisomal dysfunctions single D018901||single peroxisomal dysfunction D018901||single peroxisomal dysfunctions D010185||pancreatic fistula D010185||fistula pancreatic D010185||fistulas pancreatic D010185||pancreatic fistulas 300581|C564480||fg syndrome 5 300581|C564480||fgs5 D010188||exocrine pancreatic insufficiency D010188||exocrine pancreatic insufficiencies D010188||insufficiencies exocrine pancreatic D010188||insufficiencies pancreatic D010188||insufficiency exocrine pancreatic D010188||insufficiency pancreatic D010188||pancreatic insufficiencies D010188||pancreatic insufficiencies exocrine D010188||pancreatic insufficiency D010188||pancreatic insufficiency exocrine 167200|D053549||pachyonychia congenita 167200|D053549||congenital pachyonychia 167200|D053549||congenital pachyonychias 167200|D053549||congenita pachyonychia 167200|D053549||congenita syndrome pachyonychia 167200|D053549||congenita syndromes pachyonychia 167200|D053549||jackson lawler syndrome pc 2 167200|D053549||jackson lawler type pachyonychia congenita 167200|D053549||jadassohn lewandowski syndrome pc 1 167200|D053549||jadassohn lewandowsky syndrome 167200|D053549||jadassohn lewandowsky syndrome formerly 167200|D053549||pachyonychia congenita 1 167200|D053549||pachyonychia congenita 2 167200|D053549||pachyonychia congenita jackson lawler type 167200|D053549||pachyonychia congenita jackson lawler type formerly 167200|D053549||pachyonychia congenita jadassohn lewandowsky type 167200|D053549||pachyonychia congenita jadassohn lewandowsky type formerly 167200|D053549||pachyonychia congenital 167200|D053549||pachyonychia congenita syndrome 167200|D053549||pachyonychia congenita syndromes 167200|D053549||pachyonychia congenita tarda type 1 167200|D053549||pachyonychia congenita type 1 167200|D053549||pachyonychia congenita type 2 167200|D053549||pachyonychias congenital 167200|D053549||pc1 167200|D053549||pc2 167200|D053549||syndrome pachyonychia congenita 167200|D053549||syndromes pachyonychia congenita 167200|D053549||type 1 pachyonychia congenita 167200|D053549||type 2 pachyonychia congenita D006939||hyperemesis gravidarum D006939||pernicious vomiting of pregnancy D006939||pregnancy pernicious vomiting D006936||hypercementosis D006936||hypercementoses D006937||hypercholesterolemia D006937||elevated cholesterol D006937||hypercholesteremia D006937||hypercholesteremias D006937||hypercholesterolemias D006934||hypercalcemia D006934||hypercalcemias D006934||milk alkali syndrome D006934||syndrome milk alkali D006935||hypercapnia D006932||hyperbilirubinemia D006932||bilirubinemia D006932||bilirubinemias D006932||hyperbilirubinemias D006933||hyperbilirubinemia hereditary D006933||hereditary hyperbilirubinemia D006933||hereditary hyperbilirubinemias D006933||hyperbilirubinemia rotor type D006933||hyperbilirubinemias hereditary D006933||rotor syndrome D006933||rotor type hyperbilirubinemia D006933||syndrome rotor D006930||hyperalgesia D006930||allodynia D006930||allodynia mechanical D006930||allodynias mechanical D006930||allodynias tactile D006930||allodynias thermal D006930||allodynia tactile D006930||allodynia thermal D006930||hyperalgesia mechanical D006930||hyperalgesia primary D006930||hyperalgesias D006930||hyperalgesia secondary D006930||hyperalgesias mechanical D006930||hyperalgesias primary D006930||hyperalgesias secondary D006930||hyperalgesias tactile D006930||hyperalgesias thermal D006930||hyperalgesia tactile D006930||hyperalgesia thermal D006930||hyperalgesic sensations D006930||mechanical allodynia D006930||mechanical hyperalgesia D006930||tactile allodynia D006930||thermal allodynia D006930||thermal hyperalgesia D059390||breakthrough pain D059390||breakthrough pains D059390||pain breakthrough D059390||pains breakthrough D018917||optic neuropathy ischemic D018917||anterior ischemic optic neuropathy D018917||ischemia optic nerve D018917||ischemias optic nerve D018917||ischemic optic neuropathies D018917||ischemic optic neuropathy D018917||nerve ischemia optic D018917||nerve ischemias optic D018917||neuropathies ischemic optic D018917||neuropathy ischemic optic D018917||optic nerve ischemia D018917||optic nerve ischemias D018917||optic neuropathies ischemic D018917||optic neuropathy anterior ischemic D018917||optic neuropathy posterior ischemic D018917||posterior ischemic optic neuropathy 201750||antley bixler syndrome with genital anomalies and disordered steroidogenesis 201750||abs1 234050|D054463||trichothiodystrophy syndromes 234050|D054463||abhs 234050|D054463||amish brittle hair brain syndrome 234050|D054463||amish brittle hair syndrome 234050|D054463||bids syndrome 234050|D054463||bids syndromes 234050|D054463||brittle hair intellectual impairment decreased fertility short stature syndrome 234050|D054463||hair brain syndrome 234050|D054463||hair brain syndromes 234050|D054463||ibids syndrome 234050|D054463||ibids syndromes 234050|D054463||ichthyosiform erythroderma with hair abnormality and mental and growth retardation 234050|D054463||ichthyosis brittle hair intellectual impairment decreased fertility and short stature 234050|D054463||nonphotosensitive 1 trichothiodystrophies 234050|D054463||nonphotosensitive 1 trichothiodystrophy 234050|D054463||photosensitive trichothiodystrophies 234050|D054463||photosensitive trichothiodystrophy 234050|D054463||pibids syndrome 234050|D054463||pibids syndromes 234050|D054463||tay syndrome 234050|D054463||trichothiodystrophies 234050|D054463||trichothiodystrophies nonphotosensitive 1 234050|D054463||trichothiodystrophies photosensitive 234050|D054463||trichothiodystrophy 234050|D054463||trichothiodystrophy nonphotosensitive 1 234050|D054463||trichothiodystrophy photosensitive 234050|D054463||trichothiodystrophy syndrome 234050|D054463||trichothiodystrophy with congenital ichtyosis 234050|D054463||ttdn1 D034141||hypoalbuminemia D059388||pelvic girdle pain D059388||dysfunctions symphysis pubis D059388||dysfunction symphysis pubis D059388||girdle pain pelvic D059388||girdle pains pelvic D059388||pain pelvic girdle D059388||pains pelvic girdle D059388||pelvic girdle pains D059388||pubis dysfunctions symphysis D059388||pubis dysfunction symphysis D059388||symphysis pubis dysfunction D059388||symphysis pubis dysfunctions C563461|255110||carnitine palmitoyltransferase ii deficiency late onset C563461|255110||carnitine palmitoyltransferase ii deficiency adult onset C563461|255110||carnitine palmitoyltransferase ii deficiency myopathic C563461|255110||cpt2 deficiency late onset C563461|255110||cpt ii deficiency myopathic D010195||pancreatitis D010195||pancreatitides D010198||pancytopenia D010198||pancytopenias C535461|603523||chylothorax congenital C535461|603523||hydrothorax congenital C536409|601634||neural tube defect folate sensitive C536409|601634||neural tube defects folate sensitive C536409|601634||ntd folate sensitive spina bifida folate sensitive included D046088||hearing loss unilateral D046088||unilateral hearing loss 609060|C563797||combined oxidative phosphorylation deficiency 1 609060|C563797||coxpd1 609060|C563797||hepatoencephalopathy early fatal progressive D046089||hearing loss mixed conductive sensorineural D046089||hearing loss mixed D046089||losses mixed hearing D046089||loss mixed hearing D046089||mixed hearing loss 108420||spermatogenic failure 2 108420||asg 108420||aspermiogenesis factor 108420||spgf2 D058070||asymptomatic diseases D058070||asymptomatic condition D058070||asymptomatic conditions D058070||asymptomatic disease D058070||asymptomatic state D058070||asymptomatic states D058070||condition asymptomatic D058070||conditions asymptomatic D058070||disease asymptomatic D058070||disease presymptomatic D058070||disease pre symptomatic D058070||diseases asymptomatic D058070||diseases presymptomatic D058070||diseases pre symptomatic D058070||presymptomatic disease D058070||pre symptomatic disease D058070||presymptomatic diseases D058070||pre symptomatic diseases D058069||neglected diseases D058069||disease neglected D058069||diseases neglected D058069||neglected disease 142945|C564181||holoprosencephaly 3 142945|C564181||hlp3 142945|C564181||hpe3 D009188||myelitis transverse D009188||acute transverse myelitis D009188||demyelinative myelitis D009188||myelitides subacute transverse D009188||myelitis acute transverse D009188||myelitis demyelinative D009188||myelitis necrotizing D009188||myelitis paraneoplastic D009188||myelitis postinfectious D009188||myelitis postvaccinal D009188||myelitis subacute transverse D009188||necrotizing myelitis D009188||paraneoplastic myelitis D009188||postinfectious myelitis D009188||postvaccinal myelitis D009188||subacute transverse myelitis D009188||transverse myelitis D009188||transverse myelitis acute D009188||transverse myelitis subacute D009188||transverse myelopathy syndrome D009188||transverse myelopathy syndromes D058066||digital dermatitis D058066||bovine digital dermatitides D058066||bovine digital dermatitis D058066||bovine foot wart D058066||bovine foot warts D058066||bovine hairy footwart D058066||bovine hairy footwarts D058066||dermatitides bovine digital D058066||dermatitides digital D058066||dermatitis bovine digital D058066||dermatitis digital D058066||digital dermatitides D058066||digital dermatitides bovine D058066||digital dermatitides ovine D058066||digital dermatitides papillomatous D058066||digital dermatitis bovine D058066||digital dermatitis ovine D058066||digital dermatitis papillomatous D058066||digital papillomatoses D058066||digital papillomatosis D058066||foot wart bovine D058066||footwart bovine hairy D058066||foot warts bovine D058066||footwarts bovine hairy D058066||hairy footwart bovine D058066||hairy footwarts bovine D058066||ovine digital dermatitides D058066||ovine digital dermatitis D058066||papillomatoses digital D058066||papillomatosis digital D058066||papillomatous digital dermatitides D058066||papillomatous digital dermatitis D058066||wart bovine foot D058066||warts bovine foot D009187||myelitis D009187||infectious myelitis D009187||inflammation spinal cord D009187||inflammations spinal cord D009187||inflammatory myelopathies D009187||inflammatory myelopathy D009187||myelitides D009187||myelitis infectious D009187||myelitis subacute necrotising D009187||myelopathies inflammatory D009187||myelopathy inflammatory D009187||necrotising myelitis subacute D009187||spinal cord inflammation D009187||spinal cord inflammations D009187||subacute necrotising myelitis D058065||diabetic cardiomyopathies D058065||cardiomyopathies diabetic D058065||cardiomyopathy diabetic D058065||diabetic cardiomyopathy D009182||mycosis fungoides D009181||mycoses D009181||disease fungus D009181||diseases fungus D009181||fungus disease D009181||fungus diseases D009180||mycoplasmatales infections D009180||infection mycoplasmatales D009180||infections mycoplasmatales D009180||mycoplasmatales infection D010167||pallor D010167||pallors C565832|603964||deafness autosomal dominant 16 C565832|603964||dfna16 D010181||pancreatic cyst D010181||cyst pancreatic D010181||cysts pancreatic D010181||pancreatic cysts 610644||palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46 xx sex reversal 610644||palmoplantar hyperkeratosis and true hermaphroditism included 267010|C537756||renal hepatic pancreatic dysplasia dandy walker cyst 267010|C537756||goldston syndrome 267010|C537756||meckel like syndrome 267010|C537756||meckel syndrome type 7 267010|C537756||mks7 267010|C537756||renal hepatic pancreatic dysplasia with dandy walker cyst D009198||myiasis D009198||infestation maggot D009198||infestations maggot D009198||maggot infestation D009198||maggot infestations D009198||myiases D009196||myeloproliferative disorders D009196||disorder myeloproliferative D009196||disorders myeloproliferative D009196||myeloproliferative disorder D009190||myelodysplastic syndromes D009190||dysmyelopoietic syndrome D009190||dysmyelopoietic syndromes D009190||hematopoetic myelodysplasia D009190||hematopoetic myelodysplasias D009190||myelodysplasia hematopoetic D009190||myelodysplasias hematopoetic D009190||myelodysplastic syndrome D009190||syndrome dysmyelopoietic D009190||syndrome myelodysplastic D009190||syndromes dysmyelopoietic D009190||syndromes myelodysplastic C536841|604218||familial encephalopathy with neuroserpin inclusion bodies C536841|604218||encephalopathy familial with collins bodies C536841|604218||encephalopathy familial with neuroserpin inclusion bodies C536841|604218||familial dementia with neuroserpin inclusion bodies C536841|604218||fenib D010178||pancoast syndrome D010178||pancoast apos s syndrome D010178||pancoasts syndrome D010178||pancoast tumor D010178||syndrome pancoast D010178||syndrome pancoast apos s D010178||tumor pancoast 600634|D015175||prolactinoma 600634|D015175||adenoma lactotroph 600634|D015175||adenoma prolactin secreting pituitary 600634|D015175||adenomas lactotroph 600634|D015175||lactotroph adenoma 600634|D015175||lactotroph adenomas 600634|D015175||macroprolactinoma 600634|D015175||macroprolactinomas 600634|D015175||microprolactinoma 600634|D015175||microprolactinomas 600634|D015175||pituitary adenoma prl secreting 600634|D015175||pituitary adenoma prolactin producing 600634|D015175||pituitary adenoma prolactin secreting 600634|D015175||pituitary adenomas prl secreting 600634|D015175||pituitary adenomas prolactin producing 600634|D015175||pituitary adenomas prolactin secreting 600634|D015175||prl secreting pituitary adenoma 600634|D015175||prl secreting pituitary adenomas 600634|D015175||prolactinoma familial 600634|D015175||prolactinomas 600634|D015175||prolactin producing pituitary adenoma 600634|D015175||prolactin producing pituitary adenomas 600634|D015175||prolactin secreting pituitary adenoma 600634|D015175||prolactin secreting pituitary adenomas 109730||aortic valve disease 1 109730|C562942||aortic stenosis calcific 109730|C562388||aortic valve bicuspid 109730|C562942||aortic valve calcification of 109730||aovd1 109730||bav 109730|C562388||bicuspid aortic valve 608415|C564243||prolonged electroretinal response suppression 608415|C564243||bradyopsia 608415|C564243||perrs C567932|300000||opitz gbbb syndrome x linked C567932|300000||bbbg1 C567932|300000||gggb1 C567932|300000|C538387|145410||hypertelorism hypospadias syndrome C567932|300000|C538387|145410||hypertelorism with esophageal abnormality and hypospadias C567932|300000||ogs1 C567932|300000||opitz bbbg syndrome type i C567932|300000||opitz gbbb syndrome type i C567932|300000||opitz g syndrome type i C567932|300000||opitz syndrome C567932|300000||opitz syndrome x linked C567932|300000||os C567932|300000||osx C567932|300000|C538387|145410||telecanthus hypospadias syndrome C567932|300000||x linked opitz syndrome xlos D010146||pain D010146||ache D010146||aches D010146||burning pain D010146||burning pains D010146||crushing pain D010146||crushing pains D010146||migratory pain D010146||migratory pains D010146||pain burning D010146||pain crushing D010146||pain migratory D010146||pain radiating D010146||pains burning D010146||pains crushing D010146||pains migratory D010146||pain splitting D010146||pains radiating D010146||pains splitting D010146||physical suffering D010146||physical sufferings D010146||radiating pain D010146||radiating pains D010146||splitting pain D010146||splitting pains D010146||suffering physical D010146||sufferings physical D010149||pain postoperative D010149||postoperative pain D010149||postoperative pains C567448|611958||prostate cancer hereditary 14 C567448|611958||hpc14 D010148||pain intractable D010148||intractable pain D010148||intractable pains D010148||pain refractory D010148||pains intractable D010148||pains refractory D010148||refractory pain D010148||refractory pains D009164||mycobacterium infections D009164||infection mycobacterium D009164||infections mycobacterium D009164||mycobacterium infection D011470||prostatic hyperplasia D011470||adenoma prostatic D011470||adenomas prostatic D011470||benign prostatic hyperplasia D011470||benign prostatic hypertrophy D011470||hyperplasia prostatic D011470||hypertrophy benign prostatic D011470||prostatic adenoma D011470||prostatic adenomas D011470||prostatic hyperplasia benign D011470||prostatic hypertrophy D011470||prostatic hypertrophy benign C537592|610738||neutropenia severe congenital autosomal recessive 3 C537592|610738||agranulocytosis infantile C537592|610738||agranulocytosis infantile genetic C537592|610738||autosomal dominant or sporadic congenital neutropenia C537592|610738||congenital agranulocytosis C537592|610738||congenital neutropenia C537592|610738||infantile genetic agranulocytosis C537592|610738||kostmann disease C537592|610738||kostmann apos s agranulocytosis C537592|610738||kostmann apos s syndrome C537592|610738||kostmann syndrome C537592|610738||neutropenia severe congenital 3 autosomal recessive C537592|610738||scn3 C537592|610738||severe congenital neutropenia C537592|610738||severe infantile genetic neutropenia D011472||prostatitis D011472||acute bacterial prostatitides D011472||acute bacterial prostatitis D011472||asymptomatic inflammatory prostatitides D011472||asymptomatic inflammatory prostatitis D011472||bacterial prostatitides acute D011472||bacterial prostatitides chronic D011472||bacterial prostatitis acute D011472||bacterial prostatitis chronic D011472||chronic bacterial prostatitides D011472||chronic bacterial prostatitis D011472||chronic prostatitis with chronic pelvic pain syndrome D011472||inflammatory prostatitis asymptomatic D011472||prostatitides D011472||prostatitides chronic bacterial D010145||paget disease extramammary D010145||extramammary paget disease D010145||extra mammary paget disease D010145||extramammary paget apos s disease D010145||extramammary pagets disease D010145||extra mammary paget apos s disease D010145||extra mammary pagets disease D010145||paget disease extra mammary D010145||paget apos s disease extramammary D010145||pagets disease extramammary D010145||paget apos s disease extra mammary D010145||pagets disease extra mammary D011475||prosthesis failure D011475||durabilities prosthesis D011475||durability prosthesis D011475||failure prosthesis D011475||failures prosthesis D011475||loosening prosthesis D011475||loosenings prosthesis D011475||migration prosthesis D011475||migrations prosthesis D011475||prosthesis durabilities D011475||prosthesis durability D011475||prosthesis failures D011475||prosthesis loosening D011475||prosthesis loosenings D011475||prosthesis migration D011475||prosthesis migrations D011475||prosthesis survival D011475||prosthesis survivals D011475||survival prosthesis D011475||survivals prosthesis D010144||paget apos s disease mammary D010144||disease mammary paget D010144||disease mammary paget apos s D010144||mammary paget disease D010144||mammary paget apos s disease D010144||mammary pagets disease D010144||paget disease breast D010144||paget disease mammary D010144||paget disease of breast D010144||pagets disease breast D010144||pagets disease mammary D010144||paget apos s disease of breast D010144||paget apos s disease of the breast D010144||paget apos s disease of the nipple D010144||paget apos s disease of the nipple and areola D022125||lacerations D022125||laceration 607483|C537658||basal ganglia disease biotin responsive 607483|C537658||bbgd 607483|C537658||biotin responsive basal ganglia disease 607483|C537658||encephalopathy thiamine responsive 607483|C537658||thiamine metabolism dysfunction syndrome 2 biotin or thiamine responsive type 607483|C537658||thmd2 C563761|609256||myopia 7 C563761|609256||myp7 612587|C567237||aneurysm intracranial berry 10 612587|C567237||anib10 D006850|236690||hydrocephalus normal pressure D006850|236690||hakim apos s syndrome D006850|236690||hakims syndrome D006850|236690||hakim apos s syndromes D006850|236690||hakim syndrome D006850|236690||hakim syndromes D006850|236690||normal pressure hydrocephalus D006850|236690||nph normal pressure hydrocephalus D006850|236690||nphs normal pressure hydrocephalus D006850|236690||syndrome hakim D006850|236690||syndrome hakim apos s D006850|236690||syndromes hakim D006850|236690||syndromes hakim apos s D022124||hyperammonemia D011488||protein deficiency D011488||deficiencies protein D011488||deficiency protein D011488||protein deficiencies D010157||palatal neoplasms D010157||neoplasm palatal D010157||neoplasms palatal D010157||palatal neoplasm 611960||asthma related traits susceptibility to 7 611960||asrt7 D009175||mycoplasma infections D009175||eperythrozoonoses D009175||eperythrozoonosis D009175||infection mycoplasma D009175||infections mycoplasma D009175||mycoplasma infection 607778|C564334||acrocapitofemoral dysplasia 607778|C564334||acfd C536850|175780||familial porencephaly C536850|175780||adt1p C536850|175780||autosomal dominant porencephaly type 1 C536850|175780||familial porencephalic white matter disease C536850|175780||hemiplegia infantile with porencephaly C536850|175780||hemiplegia infantile with porencephaly porencephaly type 1 C536850|175780||infantile hemiplegia with porencephaly C536850|175780||poren1 C536850|175780||porencephaly 1 C536850|175780||porencephaly familial C536850|175780||porencephaly type 1 C536850|175780||porencephaly type 1 autosomal dominant C536850|175780||t1p C548084|613224||noonan syndrome 6 C548084|613224||ns6 C567215|612643||deafness autosomal dominant 3b C567215|612643||dfna3b D054508||acute radiation syndrome D054508||acute radiation syndromes D054508||radiation syndrome acute D054508||radiation syndromes acute D054506||chloracne D054506||acne chlorine D054506||acnes chlorine D054506||chloracnes D054506||chlorine acne D054506||chlorine acnes C565359|605115||hypertension early onset autosomal dominant with severe exacerbation in pregnancy D009139||musculoskeletal abnormalities D009139||abnormalities musculoskeletal D009139||abnormality musculoskeletal D009139||musculoskeletal abnormality 129500|D004476||ectodermal dysplasia 129500|D004476||anhidrotic ectodermal dysplasia 129500|D004476||anhidrotic ectodermal dysplasias 129500|D004476||anhidrotics ectodermal dysplasia 129500|D004476||anhydrotic ectodermal dysplasia 129500|D004476||anhydrotic ectodermal dysplasias 129500|D004476||aplasia cutis congenita 129500|D004476||aplasia cutis congenita nonsyndromic 129500|D004476||autosomal dominant hidrotic ectodermal dysplasia 129500|D004476||clouston hidrotic ectodermal dysplasia 129500|D004476||clouston apos s hidrotic ectodermal dysplasia 129500|D004476||clouston apos s syndrome 129500|D004476||cloustons syndrome 129500|D004476||clouston syndrome 129500|D004476||congenital ectodermal defect 129500|D004476||congenital ectodermal defects 129500|D004476||defect congenital ectodermal 129500|D004476||defects congenital ectodermal 129500|D004476||dysplasia anhidrotic ectodermal 129500|D004476||dysplasia anhidrotics ectodermal 129500|D004476||dysplasia anhydrotic ectodermal 129500|D004476||dysplasia ectodermal 129500|D004476||dysplasia hidrotic ectodermal 129500|D004476||dysplasia hydrotic ectodermal 129500|D004476||dysplasias anhidrotic ectodermal 129500|D004476||dysplasias anhydrotic ectodermal 129500|D004476||dysplasias ectodermal 129500|D004476||dysplasias hidrotic ectodermal 129500|D004476||dysplasias hydrotic ectodermal 129500|D004476||ectd2 129500|D004476||ectodermal defect congenital 129500|D004476||ectodermal defects congenital 129500|D004476||ectodermal dysplasia 2 clouston type 129500|D004476||ectodermal dysplasia 2 hidrotic 129500|D004476|224900|D053360||ectodermal dysplasia anhidrotic 129500|D004476||ectodermal dysplasia anhydrotic 129500|D004476||ectodermal dysplasia hidrotic 129500|D004476||ectodermal dysplasia hidrotic 2 formerly 129500|D004476||ectodermal dysplasia hidrotic autosomal dominant 129500|D004476||ectodermal dysplasia hydrotic 129500|D004476||ectodermal dysplasias 129500|D004476||ectodermal dysplasias anhidrotic 129500|D004476||ectodermal dysplasias anhydrotic 129500|D004476||ectodermal dysplasias hydrotic 129500|D004476||hed2 formerly 129500|D004476||hidrotic ectodermal dysplasia 129500|D004476||hidrotic ectodermal dysplasia autosomal dominant 129500|D004476||hidrotic ectodermal dysplasias 129500|D004476||hydrotic ectodermal dysplasia 129500|D004476||hydrotic ectodermal dysplasias 129500|D004476||syndrome clouston 129500|D004476||syndrome clouston apos s D009137||muscular dystrophy animal D009137||animal muscular dystrophies D009137||animal muscular dystrophy D009137||dystrophies animal muscular D009137||dystrophy animal muscular D009137||muscular dystrophies animal D009145||mushroom poisoning D009145||mushroom poisonings D009145||poisoning mushroom D009145||poisonings mushroom C567373|612274||ciliary dyskinesia primary 8 C567373|612274||cild8 C567373|612274||ciliary dyskinesia primary 8 with or without situs inversus D055653|158320||muir torre syndrome D055653|158320||cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas D055653|158320||mrtes D055653|158320||syndrome muir torre 120100||caps1 120100|C569627||cold hypersensitivity 120100||cryopyrin associated periodic syndrome 1 120100||fcas 120100||fcu D009140||musculoskeletal diseases D009140||disease musculoskeletal D009140||diseases musculoskeletal D009140||musculoskeletal disease C535699|601888||malignant hyperthermia susceptibility type 6 C535699|601888||malignant hyperpyrexia susceptibility type 6 C535699|601888||malignant hyperthermia susceptibility to 6 C535699|601888||mhs6 252150|C535811||molybdenum cofactor deficiency 252150|C535811||mocoda 252150|C535811|C565372||molybdenum cofactor deficiency complementation group a 252150|C535811||sulfite oxidase xanthine dehydrogenase and aldehyde oxidase combined deficiency of D012784||shoulder fractures D012784||fracture proximal humeral D012784||fracture shoulder D012784||fractures proximal humeral D012784||fractures shoulder D012784||humeral fracture proximal D012784||humeral fractures proximal D012784||proximal humeral fracture D012784||proximal humeral fractures D012784||shoulder fracture D010123||oxyuriasis D010123||aspiculariases D010123||aspiculariasis D010123||oxyuriases D012783||shoulder dislocation D012783||dislocation glenohumeral D012783||dislocations glenohumeral D012783||dislocation shoulder D012783||dislocations shoulder D012783||glenohumeral dislocation D012783||glenohumeral dislocations D012783||glenohumeral subluxation D012783||glenohumeral subluxations D012783||shoulder dislocations D012783||subluxation glenohumeral D012783||subluxations glenohumeral 239500|C538384||hyperprolinemia 239500|C538384||hpi 239500|C538384||hyperprolinemia type 1 239500|C538384||hyperprolinemia type i 239500|C538384||proline hydrogenase deficiency 239500|C538384||prolinemia 239500|C538384||proline oxidase deficiency 239500|C538384||pyrroline 5 carboxylate dehydrogenase deficiency 239500|C538384||pyrroline carboxylate dehydrogenase deficiency 132100||photoparoxysmal response 1 132100|D020195||epilepsy photogenic 132100||photoconvulsive reaction 132100||photosensitivity 132100||ppr 132100||ppr1 D054517||orbital cellulitis D054517||cellulitides orbital D054517||cellulitis orbital D054517||orbital cellulitides 225753|C536716||pontocerebellar hypoplasia type 4 225753|C536716||encephalopathy fatal infantile with olivopontocerebellar hypoplasia 225753||pch4 C563677|610357||spastic paraplegia 30 autosomal recessive C563677|610357||spg30 D009157||myasthenia gravis D009157||generalized myasthenia gravis D009157||myasthenia gravis generalized D009157||myasthenia gravis ocular D009157||ocular myasthenia gravis D012797||sialometaplasia necrotizing D012797||necrotizing sialometaplasia D012797||necrotizing sialometaplasias D012797||sialometaplasias necrotizing C537449|300218||mental retardation x linked syndromic 7 C537449|300218||ahmad x linked mental retardation syndrome C537449|300218||mrxs7 D011469||prostatic diseases D011469||disease prostatic D011469||diseases prostatic D011469||prostatic disease C565274|605934||holoprosencephaly 6 C565274|605934||hpe6 D012798||sialorrhea D012798||drooling D012798||hypersalivation D009155||mutism D009155||aphasia kussmaul D009155||aphasia kussmaul apos s D009155||conversion mutism D009155||conversion mutisms D009155||elective mutism D009155||elective mutisms D009155||kussmaul aphasia D009155||kussmaul apos s aphasia D009155||kussmauls aphasia D009155||mutism conversion D009155||mutism elective D009155||mutism organic D009155||mutisms D009155||mutisms conversion D009155||mutisms elective D009155||mutism selective D009155||mutisms organic D009155||mutisms voluntary D009155||mutism voluntary D009155||organic mutism D009155||organic mutisms D009155||selective mutism D009155||voluntary mutism D009155||voluntary mutisms D005199|227650||fanconi anemia D005199|227650||anemia fanconi D005199|227650||anemia fanconi apos s D005199|227650||anemias fanconi D005199|227650||estren dameshek variant of fanconi anemia included D005199|227650||estren dameshek variant of fanconi pancytopenia included D005199|227650||fanca D005199|227650||fanconi anemia complementation group a D005199|227650||fanconi anemia fa fanconi anemia estren dameshek variant included D005199|227650||fanconi anemias D005199|227650||fanconi hypoplastic anemia D005199|227650||fanconi pancytopenia D005199|227650||fanconi panmyelopathy D005199|227650||fanconi apos s anemia D012791||shy drager syndrome D012791||autonomic failure progressive D012791||autonomic failures progressive D012791||dysautonomia orthostatic hypotension syndrome D012791||dysautonomia orthostatic hypotension syndromes D012791||dysautonomic orthostatic hypotension D012791||dysautonomic orthostatic hypotensions D012791||failure progressive autonomic D012791||failures progressive autonomic D012791||hypotension dysautonomic orthostatic D012791||hypotensions dysautonomic orthostatic D012791||hypotension syndrome dysautonomia orthostatic D012791||hypotension syndromes dysautonomia orthostatic D012791||idiopathic orthostatic hypotension shy drager type D012791||orthostatic hypotension dysautonomic D012791||orthostatic hypotensions dysautonomic D012791||progressive autonomic failure D012791||progressive autonomic failures D012791||syndrome dysautonomia orthostatic hypotension D012791||syndromes dysautonomia orthostatic hypotension D012791||syndrome shy drager 605389|C537160||hypotrichosis simplex 605389|C537160||hereditary hypotrichosis simplex 605389|C537160|C566870|211900|D058747|214800||hhs 605389|C537160||hts 605389|C537160||hypotrichosis 1 605389|C537160||hypotrichosis simplex generalized hereditary 605389|C537160||hypt1 D012790||shwartzman phenomenon D012790||phenomenon schwartzman D012790||phenomenon shwartzman D012790||schwartzman phenomenon D012790||schwartzman reaction D012790||schwartzman reactions D012790||shwartzman reaction D054515||vulvar vestibulitis D054515||vestibulitides vulvar D054515||vestibulitis vulvar D054515||vulvar vestibulitides D054515||vulvar vestibulitis syndrome D012793||sialadenitis D012793||adenitides salivary gland D012793||adenitis salivary gland D012793||chronic sialadenitides D012793||chronic sialadenitis D012793||inflammation salivary gland D012793||inflammations salivary gland D012793||irradiation induced sialadenitides D012793||irradiation induced sialadenitis D012793||salivary gland adenitides D012793||salivary gland adenitis D012793||salivary gland inflammation D012793||salivary gland inflammations D012793||sialadenitides D012793||sialadenitides chronic D012793||sialadenitides irradiation induced D012793||sialadenitis chronic D012793||sialadenitis irradiation induced D012793||sialitides D012793||sialitis D012793||sialoadenitides D012793||sialoadenitis D054514||persistent hyperplastic primary vitreous D054514||persistent fetal vasculature syndrome D054514||persistent hyaloid arteries D054514||persistent hyaloid artery D054514||persistent hyaloid vasculature D054514||persistent hyaloid vasculatures C537839|609628||majeed syndrome C537839|609628||chronic recurrent multifocal osteomyelitis congenital C537839|609628||chronic recurrent multifocal osteomyelitis congenital dyserythropoietic anemia and neutrophilic dermatosis C537839|609628||congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis C537839|609628||dyserythropoietic anemia and neutrophilic dermatosis D000788||angina pectoris variant D000788||angina prinzmetal D000788||angina prinzmetal apos s D000788||prinzmetal angina D000788||prinzmetal apos s angina D000788||prinzmetals angina D000788||variant angina pectoris C536833|231670||glutaric aciduria 1 C536833|231670||ga i C536833|231670||glutaric acidemia 1 C536833|231670||glutaric acidemia i C536833|231670||glutaric acidemia type 1 C536833|231670||glutaric acidemia type i C536833|231670||glutaric aciduria i C536833|231670||glutaryl coa dehydrogenase deficiency D000787||angina pectoris D000787||angor pectoris D000787||stenocardia D000787||stenocardias C564563|300215||lissencephaly x linked 2 C564563|300215||hydranencephaly and abnormal genitalia C564563|300215||lissencephaly x linked with ambiguous genitalia C564563|300215||lisx2 C564563|300215||xlag C564563|300215||xlisg hydranencephaly and abnormal genitalia included C541083|613282||non alcoholic fatty liver disease C541083|613282||fatty liver disease nonalcoholic susceptibility to 1 C541083|613282||fatty liver disease nonalcoholic susceptibility to 2 C541083|613282||fatty liver nonalcoholic C541083|613282||liver disease alcoholic susceptibility to 1 included C541083|613282||nafld C541083|613282||nafld1 C541083|613282||nafld2 C541083|613282||nonalcoholic fatty liver disease D000785||aneurysm infected D000785||aneurysm bacterial D000785||aneurysm fungal D000785||aneurysm mycotic D000785||aneurysms bacterial D000785||aneurysms fungal D000785||aneurysms infected D000785||aneurysms mycotic D000785||bacterial aneurysm D000785||bacterial aneurysms D000785||fungal aneurysm D000785||fungal aneurysms D000785||infected aneurysm D000785||infected aneurysms D000785||mycotic aneurysm D000785||mycotic aneurysms D000789||angina unstable D000789||angina at rest D000789||angina pectoris unstable D000789||angina pectori unstable D000789||angina preinfarction D000789||anginas preinfarction D000789||anginas unstable D000789||myocardial preinfarction syndrome D000789||myocardial preinfarction syndromes D000789||preinfarction angina D000789||preinfarction anginas D000789||preinfarction syndrome myocardial D000789||preinfarction syndromes myocardial D000789||syndrome myocardial preinfarction D000789||syndromes myocardial preinfarction D000789||unstable angina D000789||unstable angina pectori D000789||unstable angina pectoris D000789||unstable anginas C563278|160120||episodic ataxia type 1 C563278|160120||aem C563278|160120||aemk C563278|160120||ataxia episodic with myokymia C563278|160120||continuous muscle fiber activity hereditary included C563278|160120||ea1 C563278|160120||eam C563278|160120||episodic ataxia with myokymia C563278|160120||isaacs mertens syndrome included C563278|160120||myokymia 1 with or without hypomagnesemia C563278|160120||myokymia 1 with or without hypomagnesemia included C563278|160120||myokymia with periodic ataxia C563278|160120||myokymia with periodic ataxia myokymia 1 included C563278|160120||paroxysmal ataxia with neuromyotonia hereditary D000784||aneurysm dissecting D000784||aneurysms dissecting D000784||dissecting aneurysm D000784||dissecting aneurysms D000783||aneurysm D000783||aneurysm fusiform D000783||aneurysms D000783||aneurysms fusiform D000783||fusiform aneurysm D000783||fusiform aneurysms D000783||saccular aneurysm D000782||aneuploidy D000782||aneuploid D000782||aneuploid cell D000782||aneuploid cells D000782||aneuploidies D000782||aneuploids D000782||cell aneuploid D000782||cells aneuploid C566450|610071||hyperparathyroidism 3 C566450|610071||hrpt3 C566450|610071||hyperparathyroidism familial isolated D012766||pasteurellosis pneumonic D012766||fever shipping D012766||pneumonic pasteurellosis D012766||shipping fever D012614|240400||scurvy D012614|240400||gulo nonfunctional included D012614|240400||gulop included D012614|240400||hypoascorbemia D012614|240400||hypoascorbemias D012614|240400||l gulonolactone oxidase nonfunctional included D012614|240400||scorbutus D012614|240400||scurvies D012614|240400||vitamin c inability to synthesize l gulonolactone oxidase pseudogene included D009123||muscle hypotonia D009123||decreased muscle tone D009123||flaccidity muscle D009123||flaccidity muscular D009123||flaccid muscle tone D009123||floppy muscle D009123||floppy muscles D009123||hypomyotonia D009123||hypotonia D009123||hypotonia muscle D009123||hypotonia muscular D009123||hypotonia neonatal D009123||hypotonias neonatal D009123||hypotonias unilateral D009123||hypotonia unilateral D009123||hypotony muscle D009123||muscle flaccidity D009123||muscle floppy D009123||muscle hypotony D009123||muscles floppy D009123||muscle tone atonic D009123||muscle tone atonics D009123||muscle tone decreased D009123||muscle tone flaccid D009123||muscle tone poor D009123||muscular flaccidities D009123||muscular flaccidity D009123||muscular hypotonia D009123||neonatal hypotonia D009123||neonatal hypotonias D009123||tone atonic muscle D009123||tone poor muscle D009123||unilateral hypotonia D009122||muscle hypertonia D009122||detrusor muscle hypertonia D009122||detrusor muscle hypertonias D009122||hypermyotonia D009122||hypermyotonias D009122||hypertonia detrusor muscle D009122||hypertonia infantile D009122||hypertonia muscle D009122||hypertonia neonatal D009122||hypertonias detrusor muscle D009122||hypertonias infantile D009122||hypertonias muscle D009122||hypertonias neonatal D009122||hypertonia sphincter D009122||hypertonias sphincter D009122||hypertonias transient D009122||hypertonia transient D009122||hypertonicities muscular D009122||hypertonicity muscular D009122||increased muscle tone D009122||infantile hypertonia D009122||infantile hypertonias D009122||muscle hypertonia detrusor D009122||muscle hypertonias D009122||muscle hypertonias detrusor D009122||muscle tone increased D009122||muscular hypertonicities D009122||muscular hypertonicity D009122||neonatal hypertonia D009122||neonatal hypertonias D009122||sphincter hypertonia D009122||sphincter hypertonias D009122||tone increased muscle D009122||transient hypertonia D009122||transient hypertonias D009120||muscle cramp D009120||cramp D009120||cramp limb D009120||cramp muscle D009120||cramp muscular D009120||cramps D009120||cramps limb D009120||cramps muscle D009120||cramps muscular D009120||limb cramp D009120||limb cramps D009120||muscle cramps D009120||muscular cramp D009120||muscular cramps D012769||shock D012769||circulatory collapse D012769||circulatory failure D012769||collapse circulatory D012769||failure circulatory D012769||hypovolemic shock D012769||shock hypovolemic 145900|D015417||hereditary sensory and motor neuropathy 145900|D015417||alpha methylacyl coa racemase 145900|D015417||amacr 145900|D015417||charcot marie tooth disease demyelinating type 4f 145900|D015417||charcot marie tooth disease type 3 145900|D015417||cmt3 145900|D015417||cmt4f 145900|D015417||dejerine sottas disease 145900|D015417||dejerine sottas hypertrophic neuropathy 145900|D015417||dejerine sottas neuropathy 145900|D015417|C538392||dejerine sottas syndrome 145900|D015417||disease dejerine sottas 145900|D015417||dsn 145900|D015417|C535601|300018||dss 145900|D015417||herditary sensory and motor neuropathy 145900|D015417||hereditary motor and sensory neuropathies 145900|D015417||hereditary motor and sensory neuropathy 145900|D015417||hereditary motor and sensory neuropathy 3 145900|D015417||hereditary motor and sensory neuropathy type iii 145900|D015417||hereditary type iii motor and sensory neuropathy 145900|D015417||hereditary type vii motor and sensory neuropathy 145900|D015417||hmsn 145900|D015417||hmsn3 145900|D015417||hmsn type iii 145900|D015417||hmsn type iiis 145900|D015417||hmsn type vii 145900|D015417||hmsn type viis 145900|D015417||hypertrophic neuropathy of dejerine sottas 145900|D015417||neuropathies hereditary motor and sensory 145900|D015417||neuropathy dejerine sottas 145900|D015417||syndrome dejerine sottas 145900|D015417||type vii hmsn 608219|C564273||deafness autosomal recessive 38 608219|C564273||dfnb38 D000799||angioedema D000799||angioedemas D000799||angioneurotic edema D000799||angioneurotic edemas D000799||edema angioneurotic D000799||edema quincke apos s D000799||edemas angioneurotic D000799||giant urticaria D000799||giant urticarias D000799||quincke edema D000799||quincke apos s edema D000799||quinckes edema D000799||urticaria giant D000799||urticarias giant D000798||angiomatosis D000798||angiomatoses D054882|613571||antley bixler syndrome phenotype D054882|613571||adrenal hyperplasia congenital due to cytochrome p450 oxidoreductase deficiency D054882|613571||antley bixler syndrome D054882|613571||antley bixler syndrome autosomal dominant D054882|613571||antley bixler syndrome like phenotype with disordered steroidogenesis D054882|613571||antley bixler syndrome with disordered steroidogenesis D054882|613571||combined partial deficiency of 17 hydroxylase and 21 hydroxylase D054882|613571||congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 deficiency D054882|613571||cytochrome p450 oxidoreductase deficiency D054882|613571||disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency D054882|613571||disordered steroidogenesis due to por deficiency D054882|613571||multisynostotic osteodysgenesis D054882|613571|207410||multisynostotic osteodysgenesis with long bone fractures D054882|613571||osteodysgenesis multisynostotic D054882|613571|207410||osteodysgenesis multisynostotic with fractures D054882|613571||phenotype antley bixler syndrome D054882|613571||por deficiency D054882|613571||syndrome antley bixler D054882|613571||syndrome phenotype antley bixler D054882|613571||syndromes trapezoidocephaly synostosis D054882|613571||syndrome trapezoidocephaly synostosis D054882|613571|207410||trapezoidocephaly synostosis syndrome D054882|613571||trapezoidocephaly synostosis syndromes C566603|601941||diabetes mellitus insulin dependent 6 C566603|601941||aitd5 included C566603|601941||iddm6 C566603|601941||insulin dependent diabetes mellitus 6 C566603|601941||insulin dependent diabetes mellitus 6 autoimmune thyroid disease susceptibility to 5 included C565311|605637||inclusion body myopathy 3 autosomal dominant C565311|605637||ibm3 C565311|605637||myopathy with congenital joint contractures ophthalmoplegia and rimmed vacuoles D000796||angiolymphoid hyperplasia with eosinophilia D000796||disease kimura D000796||eosinophilic granuloma of soft tissue D000796||eosinophilic hyperplastic lymphogranuloma D000796||eosinophilic hyperplastic lymphogranulomas D000796||eosinophilic lymphofollicular granuloma D000796||eosinophilic lymphofollicular granulomas D000796||eosinophilic lymphofolliculoses D000796||eosinophilic lymphofolliculosis D000796||granuloma eosinophilic lymphofollicular D000796||granuloma pseudopyogenic D000796||granulomas eosinophilic lymphofollicular D000796||granulomas pseudopyogenic D000796||hyperplastic lymphogranuloma eosinophilic D000796||hyperplastic lymphogranulomas eosinophilic D000796||kimura disease D000796||lymphofollicular granuloma eosinophilic D000796||lymphofollicular granulomas eosinophilic D000796||lymphofolliculoses eosinophilic D000796||lymphofolliculosis eosinophilic D000796||lymphogranuloma eosinophilic hyperplastic D000796||lymphogranulomas eosinophilic hyperplastic D000796||pseudopyogenic granuloma D000796||pseudopyogenic granulomas C537706|259690||kaler garrity stern syndrome C537706|259690||osteopenia and sparse hair C537706|259690||osteopenia mental retardation sparse hair D009128||muscle spasticity D009128||clasp knife spasticity D009128||spastic D009128||spasticity clasp knife D009128||spasticity muscle D000794||angiokeratoma D000794||angiokeratomas D009127||muscle rigidity D009127||catatonic rigidity D009127||cogwheel rigidities D009127||cogwheel rigidity D009127||extensor rigidity D009127||extrapyramidal rigidity D009127||gegenhalten D009127||gegenhaltens D009127||muscular rigidity D009127||nuchal rigidity D009127||rigidities cogwheel D009127||rigidity catatonic D009127||rigidity cogwheel D009127||rigidity extensor D009127||rigidity extrapyramidal D009127||rigidity muscle D009127||rigidity muscular D009127||rigidity nuchal D000793||angioid streaks D000793||angioid streak D000793||streak angioid D000793||streaks angioid D024741||cardiomyopathy hypertrophic familial D024741||asymmetric septal hypertrophy familial D024741||cardiomyopathies familial hypertrophic D024741||cardiomyopathy familial hypertrophic D024741||familial hypertrophic cardiomyopathies D024741||familial hypertrophic cardiomyopathy D024741||familial ventricular hypertrophies D024741||familial ventricular hypertrophy D024741||hereditary ventricular hypertrophies D024741||hereditary ventricular hypertrophy D024741||hypertrophic cardiomyopathies familial D024741||hypertrophic cardiomyopathy familial D024741||hypertrophies hereditary ventricular D024741||hypertrophy familial ventricular D024741||hypertrophy hereditary ventricular D024741||obstructive asymmetric septal hypertrophy D024741||ventricular hypertrophies familial D024741||ventricular hypertrophies hereditary D024741||ventricular hypertrophy familial D009136||muscular dystrophies D009136||dystrophies muscular D009136||dystrophy muscular D009136||muscular dystrophy D009136||myodystrophica D009136||myodystrophicas D009136||myodystrophies D009136||myodystrophy D012778||short bowel syndrome D012778||bowel syndrome short D012778||bowel syndromes short D012778||short bowel syndromes D012778||syndrome short bowel D012778||syndromes short bowel D009135||muscular diseases D009135||muscle disorder D009135||muscle disorders D009135||muscular disease D009135||myopathic condition D009135||myopathic conditions D009135||myopathies D009135||myopathy D009134||muscular atrophy spinal D009134||adult onset spinal muscular atrophy D009134||adult spinal muscular atrophy D009134||amyotrophies spinal D009134|181405||amyotrophy neurogenic scapuloperoneal new england type D009134||amyotrophy spinal D009134||atrophies progressive muscular D009134||atrophy myelopathic muscular D009134||atrophy progressive muscular D009134||atrophy spinal muscular D009134||bulbospinal neuronopathies D009134||bulbospinal neuronopathy D009134||distal spinal muscular atrophy D009134||hereditary motor neuronopathies D009134||hereditary motor neuronopathy D009134||motor neuronopathies hereditary D009134||motor neuronopathy hereditary D009134||muscular atrophies progressive D009134||muscular atrophy adult spinal D009134||muscular atrophy myelopathic D009134||muscular atrophy progressive D009134||myelopathic muscular atrophy D009134||myelopathic muscular atrophy progressive D009134||neuronopathies bulbospinal D009134||neuronopathies hereditary motor D009134||neuronopathy bulbospinal D009134||neuronopathy hereditary motor D009134||oculopharyngeal spinal muscular atrophy D009134||progressive muscular atrophies D009134||progressive muscular atrophy D009134||progressive myelopathic muscular atrophy D009134||progressive proximal myelopathic muscular atrophy D009134||proximal myelopathic muscular atrophy progressive D009134||scapuloperoneal form of spinal muscular atrophy D009134|181405||scapuloperoneal spinal muscular atrophy D009134||spinal amyotrophies D009134||spinal amyotrophy D009134||spinal muscular atrophy D009134||spinal muscular atrophy distal D009134||spinal muscular atrophy oculopharyngeal D009134||spinal muscular atrophy scapuloperoneal D009134||spinal muscular atrophy scapuloperoneal form D009133||muscular atrophy D009133||atrophies muscle D009133||atrophies muscular D009133||atrophies neurogenic muscular D009133||atrophies neurotrophic muscular D009133||atrophy muscle D009133||atrophy muscular D009133||atrophy neurogenic muscular D009133||atrophy neurotrophic muscular D009133||muscle atrophies D009133||muscle atrophy D009133||muscular atrophies D009133||muscular atrophies neurogenic D009133||muscular atrophies neurotrophic D009133||muscular atrophy neurogenic D009133||muscular atrophy neurotrophic D009133||neurogenic muscular atrophies D009133||neurogenic muscular atrophy D009133||neurotrophic muscular atrophies D009133||neurotrophic muscular atrophy 246200|D056731||donohue syndrome 246200|D056731||leprechaunism 246200|D056731||leprechaunism insulin receptor defect in included 246200|D056731||leprechaunisms 246200|D056731||mendenhall syndrome 246200|D056731||pineal hyperplasia insulin resistant diabetes mellitus and somatic abnormalities 246200|D056731||rabson mendenhall syndrome 246200|D056731||syndrome donohue 246200|D056731||syndrome mendenhall 246200|D056731||syndrome rabson mendenhall D012770||shock cardiogenic D012770||cardiogenic shock D053202||urinary incontinence urge D053202||incontinence urge D053202||incontinence urinary reflex D053202||urge incontinence D053202||urinary reflex incontinence D053202||urinary urge incontinence D053201||urinary bladder overactive D053201||bladder overactive D053201||detrusor function overactive D053201||detrusor overactive D053201||overactive bladder D053201||overactive detrusor D053201||overactive detrusor function D053201||overactive urinary bladder D012773||shock surgical D012773||surgical shock D012773||surgical shocks D053207||diurnal enuresis D053207||daytime urinary incontinence D053207||daytime wetting D053207||enuresis diurnal D053207||incontinence daytime urinary D053207||urinary incontinence daytime D053207||wetting daytime D012774||shock traumatic D012774||traumatic shock D054537||atrioventricular block D054537||atrioventricular blocks D054537||atrioventricular conduction block D054537||atrioventricular conduction blocks D054537||av block D054537||av blocks D054537||block av D054537||blocks av D054537||conduction block atrioventricular D054537||conduction blocks atrioventricular D012771||shock hemorrhagic D012771||hemorrhagic shock D008527|155255||medulloblastoma D008527|155255||adult medulloblastoma D008527|155255||adult medulloblastomas D008527|155255||arachnoidal cerebellar sarcoma circumscribed D008527|155255||childhood medulloblastoma D008527|155255||childhood medulloblastomas D008527|155255||desmoplastic medulloblastoma D008527|155255||desmoplastic medulloblastomas D008527|155255||mben included D008527|155255||mdb D008527|155255||medulloblastoma adult D008527|155255||medulloblastoma childhood D008527|155255||medulloblastoma desmoplastic D008527|155255||medulloblastoma desmoplastic included D008527|155255||medulloblastoma melanocytic D008527|155255||medulloblastomas D008527|155255||medulloblastomas adult D008527|155255||medulloblastomas childhood D008527|155255||medulloblastomas desmoplastic D008527|155255||medulloblastomas melanocytic D008527|155255||medulloblastoma with extensive nodularity included D008527|155255||medullomyoblastoma D008527|155255||medullomyoblastomas D008527|155255||melanocytic medulloblastoma D008527|155255||melanocytic medulloblastomas D008527|155255||sarcoma cerebellar circumscribed arachnoidal D012772||shock septic D012772||endotoxic shock D012772||septic shock D012772||shock endotoxic D012772||shock syndromes toxic D012772||shock syndrome toxic D012772||shock toxic D012772||syndromes toxic shock D012772||syndrome toxic shock D012772||toxic shock D012772||toxic shock syndrome D012772||toxic shock syndromes C538215|125400||dentin dysplasia type 1 C538215|125400||dentin dysplasia shields type i C538215|125400||dentin dysplasia type i C538215|125400||dtdp1 C538215|125400||radicular dentin dysplasia C538215|125400||radicular dentin dysplasia dentin dysplasia type i with extreme microdontia and misshapen teeth included C538215|125400||rootless teeth D046150|262500||laron syndrome D046150|262500||dwarfism ii pituitary D046150|262500||dwarfism iis pituitary D046150|262500||dwarfism laron D046150|262500||gh resistance primary D046150|262500||growth hormone insensitivity syndrome D046150|262500||growth hormone receptor defect D046150|262500||growth hormone receptor deficiency D046150|262500||laron dwarfism D046150|262500||laron type dwarfism i D046150|262500||pituitary dwarfism ii D046150|262500||pituitary dwarfism iis D046150|262500||primary gh resistance D046150|262500||primary growth hormone resistance D046150|262500||severe gh insensitivity D046150|262500||syndrome laron D013661|272800||tay sachs disease D013661|272800||amaurotic familial idiocy D013661|272800||amaurotic idiocy familial D013661|272800||b variant gm2 gangliosidoses D013661|272800||b variant gm2 gangliosidosis D013661|272800||deficiency disease hexosaminidase a D013661|272800||deficiency hexosaminidase a D013661|272800||deficiency hexosaminidase alpha subunit variant b D013661|272800||familial amaurotic idiocy D013661|272800||gangliosidosis gm2 b variant D013661|272800||gangliosidosis gm2 type 1 D013661|272800||gangliosidosis g m2 type i D013661|272800||gangliosidosis gm2 type i D013661|272800||gm2 gangliosidosis adult chronic type included D013661|272800||gm2 gangliosidosis b variant D013661|272800||gm2 gangliosidosis type 1 D013661|272800||g m2 gangliosidosis type i D013661|272800||gm2 gangliosidosis type i D013661|272800||gm2 gangliosidosis variant b1 included D013661|272800||hexa deficiency D013661|272800||hexa deficiency tay sachs disease juvenile included D013661|272800||hexosaminidase a deficiency D013661|272800||hexosaminidase a deficiency adult type included D013661|272800||hexosaminidase a deficiency disease D013661|272800||hexosaminidase alpha subunit deficiency variant b D013661|272800||sphingolipidosis tay sachs D013661|272800||tay sachs disease b variant D013661|272800||tay sachs disease pseudo ab variant included D013661|272800||tay sachs disease variant b1 included D013661|272800||tay sachs sphingolipidosis D013661|272800||tsd D013661|272800||type i gm2 gangliosidosis 226700|D016109||epidermolysis bullosa junctional 226700|D016109||bullosa herlitz pearson type epidermolysis 226700|D016109||bullosa letali epidermolysis 226700|D016109||bullosa letalis epidermolysis 226700|D016109||disease herlitz 226700|D016109||disease herlitz apos s 226700|D016109||epidermolysis bullosa generalized atrophic benign 226700|D016109||epidermolysis bullosa herlitz pearson type 226700|D016109||epidermolysis bullosa junctional herlitz pearson type 226700|D016109||epidermolysis bullosa junctional herlitz type 226700|D016109|226650|C562639||epidermolysis bullosa junctionalis disentis type 226700|D016109||epidermolysis bullosa junctionalis herlitz type 226700|D016109|226650|C562639||epidermolysis bullosa junctionalis progressive 226700|D016109|226650|C562639||epidermolysis bullosa junctionalis severe nonlethal 226700|D016109||epidermolysis bullosa letali 226700|D016109||epidermolysis bullosa letalis 226700|D016109||epidermolysis bullosa progressiva 226700|D016109||herlitz disease 226700|D016109||herlitz pearson type epidermolysis bullosa 226700|D016109||herlitz apos s disease 226700|D016109||herlitzs disease 226700|D016109||jeb herlitz type 226700|D016109||junctional epidermolysis bullosa 226700|D016109||letali epidermolysis bullosa 226700|D016109||letalis epidermolysis bullosa 226700|D016109||lethal junctional epidermolysis bullosa C535971||coloboma cleft lip palate and mental retardation syndrome C535971||coloboma microphthalmos syndrome C535971||coloboma microphthalmos syndrome associated with sensorineural hearing loss hematuria and cleft lip palate C535971||uveal coloboma cleft lip palate mental retardation syndrome C536093|600080||myelocytic leukemia like syndrome familial chronic C536093|600080||cml like syndrome familial 259100||hypertrophic osteoarthropathy primary autosomal recessive 1 259100||cio included 259100||coa included 259100||currarino idiopathic osteoarthropathy included 259100||familial idiopathic osteoarthropathy of childhood included 259100||pdp autosomal recessive 259100||phoar1 259100||pho autosomal recessive 259100||touraine solente gole syndrome cranioosteoarthropathy included 188580||thyrotoxic periodic paralysis susceptibility to 1 188580||ttpp1 D009102||multiple organ failure D009102||failure multiple organ D009102||mods D009102||multiple organ dysfunction syndrome D009102||multiple organ failures D009102||organ dysfunction syndrome multiple D009102||organ failure multiple C535969||coloboma of macula type b brachydactyly C535969||coloboma of macula with type b brachydactyly C535969||sorsby syndrome D009100||multiple carboxylase deficiency D009100||carboxylase deficiencies combined D009100||carboxylase deficiencies multiple D009100||carboxylase deficiency combined D009100||carboxylase deficiency multiple D009100||combined carboxylase deficiencies D009100||combined carboxylase deficiency D009100||deficiencies combined carboxylase D009100||deficiencies multiple carboxylase D009100||deficiency combined carboxylase D009100||deficiency multiple carboxylase D009100||multiple carboxylase deficiencies D010022|166600||osteopetrosis D010022|166600||albers schoenberg disease D010022|166600||albers schonberg disease D010022|166600||albers sch 246 nberg disease D010022|166600||albers schonberg disease autosomal dominant D010022|166600||autosomal dominant osteopetrosis type 2 D010022|166600||congenital osteopetrosis D010022|166600||disease albers schoenberg D010022|166600||disease albers schonberg D010022|166600||disease albers sch 246 nberg D010022|166600||disease marble bone D010022|166600||marble bone disease D010022|166600||marble bones autosomal dominant D010022|166600||opta2 D010022|166600||osteopetroses D010022|166600||osteopetrosis autosomal dominant 2 D010022|166600||osteopetrosis autosomal dominant type 2 D010022|166600||osteopetrosis autosomal dominant type ii D010022|166600||osteosclerosis fragilis D010022|166600||osteosclerosis fragilis generalisata D010022|166600||osteosclerosis fragilis generalisatas D012749||sexually transmitted diseases D012749||disease sexually transmitted D012749||diseases sexually transmitted D012749||diseases venereal D012749||disease venereal D012749||sexually transmitted disease D012749||stds D012749||venereal disease D012749||venereal diseases C537472|309605||miles carpenter x linked mental retardation syndrome C537472|309605||mcs C537472|309605||mental retardation x linked syndromic 4 C537472|309605||mental retardation x linked with congenital contractures and low fingertip arches C537472|309605||mrxs4 C564507|300476||cone rod dystrophy x linked 3 C564507|300476||cordx3 C535964||collagenopathy type 2 alpha 1 C535964||cartilage collagen C535963||cole carpenter syndrome C535966||colloid cysts of third ventricle C535966||neuroepithelial cysts of third ventricle D054549||takotsubo cardiomyopathy D054549||apical ballooning syndrome D054549||broken heart syndrome D054549||cardiomyopathy stress D054549||cardiomyopathy takotsubo D054549||cardiomyopathy tako tsubo D054549||left ventricular apical ballooning syndrome D054549||stress cardiomyopathy D054549||syndrome apical ballooning D054549||syndrome broken heart D054549||syndromes broken heart D054549||syndromes tako tsubo D054549||syndrome tako tsubo D054549||tako tsubo cardiomyopathy D054549||tako tsubo syndrome D054549||takotsubo syndrome D054549||tako tsubo syndromes D054549||transient apical ballooning syndrome C535968||hereditary macular coloboma C535968||agenesis of macula C535968||coloboma of macula C535968||macular coloboma C535967||coloboma of alar nasal cartilages with telecanthus C535967||alar nasal cartilages coloboma of with telecanthus C535967||frontonasal dysplasia with alar clefts C566501|609633||major affective disorder 3 C566501|609633||bipolar affective disorder early onset C566501|609633||bpeo C566501|609633||mafd3 604804||microcephaly 3 primary autosomal recessive 604804||mcph3 C536534|192350||vater association C536534|192350||vacterl association included C536534|192350||vertebral defects anal atresia tracheoesophageal fistula with esophageal atresia and radial dysplasia 277180|C535984||congenital bilateral aplasia of vas deferens 277180|C535984||absence of vas deferens 277180|C535984||absent vasa 277180|C535984||cavd 277180|C535984||cbavd 277180|C535984||congenital absence of vas deferens 277180|C535984||congenital aplasia of vas deferens 277180|C535984||congenital bilateral absence of the vas deferens 277180|C535984||congenital bilateral absence of vas deferens 277180|C535984||vas deferens congenital bilateral aplasia of C535981||congenital alopecia x linked C535981||alopecia congenital C535981||congenital alopecia 606764|D046152||gastrointestinal stromal tumors 606764|D046152||gastrointestinal stromal neoplasm 606764|D046152||gastrointestinal stromal neoplasms 606764|D046152||gastrointestinal stromal sarcoma 606764|D046152||gastrointestinal stromal tumor 606764|D046152|C564650|606864||gist 606764|D046152||neoplasm gastrointestinal stromal 606764|D046152||neoplasms gastrointestinal stromal 606764|D046152||stromal neoplasm gastrointestinal 606764|D046152||stromal neoplasms gastrointestinal 606764|D046152||stromal tumor gastrointestinal 606764|D046152||stromal tumors gastrointestinal 606764|D046152||tumor gastrointestinal stromal 606764|D046152||tumors gastrointestinal stromal D009107||mumps D009107||epidemic parotitides D009107||epidemic parotitis D009107||parotitides epidemic D009107||parotitis epidemic C565504|236680||hydrolethalus syndrome 1 C565504|236680||hls1 D009105||multiple personality disorder D009105||disorder dissociative identity D009105||disorder multiple identity D009105||disorder multiple personality D009105||dissociative identity disorder D009105||dual personality D009105||identity disorder dissociative D009105||identity disorder multiple D009105||multiple identity disorder D009105||multiple identity disorders D009105||multiple personalities D009105||multiple personality D009105||multiple personality disorders D009105||personalities dual D009105||personalities multiple D009105||personality disorder multiple D009105||personality disorders multiple D009105||personality dual D009105||personality multiple D009104||multiple trauma D009104||injuries multiple D009104||injury multiple D009104||multiple injuries D009104||multiple injury D009104||multiple traumas D009104||multiple wound D009104||multiple wounds D009104||polytrauma D009104||polytraumas D009104||trauma multiple D009104||traumas multiple D009104||wound multiple D009104||wounds multiple D055882||nevus halo D055882||halo nevi D055882||halo nevus D055882||leukoderma acquisitum centrifugum of sutton D055882||nevi halo D012753||shared paranoid disorder D012753||disorder shared paranoid D012753||disorder shared psychotic D012753||disorders shared paranoid D012753||disorders shared psychotic D012753||folie a deux D012753||folie a trois D012753||paranoid disorder shared D012753||paranoid disorders shared D012753||psychotic disorder shared D012753||psychotic disorders shared D012753||shared paranoid disorders D012753||shared psychotic disorder D012753||shared psychotic disorders 249420|C537274||ter haar syndrome 249420|C537274||frank ter haar syndrome 249420|C537274||fths 249420|C537274||megalocornea multiple skeletal anomalies and developmental delay 249420|C537274||melnick needles syndrome autosomal recessive formerly D009110||munchausen syndrome D009110||hospital addiction syndrome D009110||hospital addiction syndromes D009110||munchhausen syndrome D009110||syndrome hospital addiction D009110||syndrome munchausen D009110||syndrome munchhausen D009110||syndromes hospital addiction D012757||sheep diseases D012757||disease ovine D012757||disease sheep D012757||diseases ovine D012757||diseases sheep D012757||ovine disease D012757||ovine diseases D012757||sheep disease C562465|608251||phobia specific C562465|608251||phobia simple 208530|D059446||heterotaxy syndrome 208530|D059446||ambiguus situs 208530|D059446||ambiguus viscerum situs 208530|D059446||ambiguus viscerums situs 208530|D059446||asplenia syndrome 208530|D059446||asplenia syndromes 208530|D059446||asplenia with cardiovascular anomalies 208530|D059446||atrial isomerism left 208530|D059446||atrial isomerism right 208530|D059446||atrial isomerisms left 208530|D059446||atrial isomerisms right 208530|D059446||heterotaxies visceral 208530|D059446||heterotaxy syndromes 208530|D059446||heterotaxy visceral 208530|D059446||heterotaxy visceroatrial autosomal recessive included 208530|D059446||isomerism left atrial 208530|D059446||isomerism right atrial 208530|D059446||isomerisms left atrial 208530|D059446||isomerisms right atrial 208530|D059446||ivemark syndrome 208530|D059446||ivemark syndrome polysplenia syndrome included 208530|D059446||left atrial isomerism 208530|D059446||left atrial isomerisms 208530|D059446||left atrial isomerism with polysplenia 208530|D059446||polyasplenia included 208530|D059446||polysplenia syndrome 208530|D059446||polysplenia syndromes 208530|D059446||rai 208530|D059446||right atrial isomerism 208530|D059446||right atrial isomerisms 208530|D059446||right atrial isomerism with asplenia 208530|D059446||situs ambiguus 208530|D059446||situs ambiguus viscerum 208530|D059446||situs ambiguus viscerums 208530|D059446||situs ambiguus with asplenia 208530|D059446||situs ambiguus with polysplenia 208530|D059446||syndrome asplenia 208530|D059446||syndrome heterotaxy 208530|D059446||syndrome ivemark 208530|D059446||syndrome polysplenia 208530|D059446||syndromes asplenia 208530|D059446||syndromes heterotaxy 208530|D059446||syndromes polysplenia 208530|D059446||vah autosomal recessive included 208530|D059446||visceral heterotaxies 208530|D059446||visceral heterotaxy 208530|D059446||viscerum situs ambiguus 208530|D059446||viscerums situs ambiguus 215100|C531651||rhizomelic chondrodysplasia punctata type 1 215100|C531651||cdpr 215100|C531651||chondrodystrophia calcificans punctata 215100|C531651||pbd9 215100|C531651||peroxisome biogenesis disorder 9 215100|C531651||rcdp1 C535973||colpocephaly D054556||venous thromboembolism D054556||thromboembolism venous C535972|120435|C537261||colorectal cancer hereditary nonpolyposis type 1 C535972|120435|C537261||colon cancer familial nonpolyposis type 1 C535975||cone dystrophy x linked with tapetal like sheen C535974||complete atrioventricular septal defect C535974||common atrioventricular canal C535974||complete atrioventricular canal D012751||sezary syndrome D012751||erythroderma sezary D012751||lymphoma sezary apos s D012751||sezary erythroderma D012751||sezary lymphoma D012751||sezary apos s lymphoma D012751||sezarys lymphoma D012751||syndrome sezary C535977||congenital absence of the sternocleidomastoid muscle C535976||cone rod dystrophy amelogenesis imperfecta D054559||hyperphosphatemia D054559||hyperphosphatemias D000743||anemia hemolytic D000743||acquired hemolytic anemia D000743||anemia acquired hemolytic D000743||anemia hemolytic acquired D000743||anemia microangiopathic D000743||hemolytic anemia D000743||hemolytic anemia acquired D000743||microangiopathic anemia C535991||de hauwere leroy adriaenssens syndrome C535991||iris dysplasia orbital hypertelorism and psychomotor retardation D000748||anemia macrocytic D000748||anemias macrocytic D000748||macrocytic anemia D000748||macrocytic anemias C535990||de barsy syndrome C535990||corneal clouding cutis laxa mental retardation C535990||cutis laxa corneal clouding and mental retardation C535990||de barsy moens diercks syndrome C535990||progeroid syndrome of de barsy D000747|C536761|300751||anemia hypochromic D000747||anemias hypochromic D000747||chloroses D000747||chlorosis D000747||hypochromic anemia D000747||hypochromic anemias C535993||deafness conductive ptosis skeletal anomalies C535993||deafness conductive with ptosis and skeletal anomalies C535993||jackson barr syndrome D000746||anemia hemolytic congenital nonspherocytic D000746||anemia congenital nonspherocytic hemolytic D000746||congenital nonspherocytic hemolytic anemia D000746||hemolytic anemia congenital nonspherocytic D000745||anemia hemolytic congenital D000745||anemia congenital hemolytic D000745||anemia hemolytic hereditary D000745||anemia hereditary hemolytic D000745||anemias congenital hemolytic D000745||anemias hereditary hemolytic D000745||congenital hemolytic anemia D000745||congenital hemolytic anemias D000745||hemolytic anemia congenital D000745||hemolytic anemia hereditary D000745||hemolytic anemias congenital D000745||hemolytic anemias hereditary D000745||hereditary hemolytic anemia D000745||hereditary hemolytic anemias D012729||sex chromosome aberrations D012729||aberration sex chromosome D012729||aberrations sex chromosome D012729||abnormalities sex chromosome D012729||abnormality sex chromosome D012729||chromosome aberration sex D012729||chromosome aberrations sex D012729||chromosome abnormalities sex D012729||chromosome abnormality sex D012729||sex chromosome aberration D012729||sex chromosome abnormalities D012729||sex chromosome abnormality C562479|153800||macular degeneration age related 2 C562479|153800||armd2 C562479|153800||macular degeneration senile C562479|153800||maculopathy age related 2 D000740||anemia D000740||anemias C565697|610612||leber congenital amaurosis 12 C565697|610612||lca12 C535986||daneman davy mancer syndrome C535986||goiter multinodular cystic renal disease and digital anomalies C535986||multinodular goiter cystic renal disease and digital anomalies C535986||multinodular goiter cystic renal disease digital anomalies C566925|611528||arrhythmogenic right ventricular dysplasia familial 12 C566925|611528||arrhythmogenic right ventricular cardiomyopathy 12 C566925|611528||arvc12 C566925|611528||arvd12 C535985||dandy walker malformation with mental retardation macrocephaly myopia and brachytelephalangy C535985||facial dysmorphism macrocephaly myopia and dandy walker malformation D000749||anemia megaloblastic D000749||anemias megaloblastic D000749||megaloblastic anemia D000749||megaloblastic anemias C535988||davenport donlan syndrome C535988||dominant hearing loss white hair contractures hyperkeratotic papillomata and depressed chemotaxis D006013|232700||glycogen storage disease type vi D006013|232700||disease hers D006013|232700||disease hers apos D006013|232700||glycogenosis 6 D006013|232700||glycogenosis type vi D006013|232700||glycogenosis vi D006013|232700||glycogen storage disease vi D006013|232700||gsd6 D006013|232700||gsd vi D006013|232700||hepatic glycogen phosphorylase deficiency D006013|232700||her disease D006013|232700||hers disease D006013|232700||hers apos disease D006013|232700||liver phosphorylase deficiency syndrome D006013|232700||phosphorylase deficiency glycogen storage disease of liver D006013|232700||type vi glycogenosis C535989||davis lafer syndrome C535989||lafer davis syndrome C535989||mental retardation unusual facies davis lafer type D000754||anemia refractory with excess of blasts D000754||leukemia smoldering D000754||leukemia smouldering D000754||leukemias smoldering D000754||raeb D000754||raem D000754||refractory anemia with excess of blasts D000754||smoldering leukemia D000754||smoldering leukemias D000754||smouldering leukemia C564832|268200||myoglobinuria acute recurrent autosomal recessive C564832|268200||myoglobinuria familial paroxysmal paralytic C564832|268200||rhabdomyolysis acute recurrent D000753||anemia refractory D000753||anemias refractory D000753||refractory anemia D000753||refractory anemias D000752||anemia pernicious D000752||addison anemia D000752||addison apos s anemia D000752||addisons anemia D000752||anemia addison D000752||anemia addisons D000752||anemia addison apos s D000752||pernicious anemia D000756||anemia sideroblastic D000756||anemias sideroblastic D000756||sideroblastic anemia D000756||sideroblastic anemias C537027|201710||lipoid congenital adrenal hyperplasia C537027|201710||adrenal hyperplasia 1 C537027|201710||adrenal hyperplasia i C537027|201710||lcah C537027|201710||lipoid hyperplasia congenital of adrenal cortex with male pseudohermaphroditism 608391||autoimmune disease susceptibility to 2 608391||ais2 608391||autoimmune disease susceptibility locus chromosome 7 related 608391||vamas3 608391||vitiligo associated multiple autoimmune disease susceptibility 3 608392||autoimmune disease susceptibility to 3 608392||ais3 608392||autoimmune disease susceptibility locus chromosome 8 related 608392||vamas4 608392||vitiligo associated multiple autoimmune disease susceptibility 4 608393||microcephaly 6 primary autosomal recessive 608393||mcph6 C537580|266900||senior loken syndrome C537580|266900||juvenile nephronophthisis with leber amaurosis C537580|266900||loken senior syndrome C537580|266900||renal dysplasia and retinal aplasia C537580|266900||renal dysplasia retinal aplasia C537580|266900||renal retinal syndrome C537580|266900||senior l 248 ken syndrome C537580|266900||senior loken syndrome 1 C537580|266900||slsn1 D000751||anemia neonatal D000751||anemia neonatorum D000751||anemias neonatal D000751||neonatal anemia D000751||neonatal anemias D000750||anemia myelophthisic D000750||anemia leukoerythroblastic D000750||anemias leukoerythroblastic D000750||anemias myelophthisic D000750||leukoerythroblastic anemia D000750||leukoerythroblastic anemias D000750||myelophthisic anemia D000750||myelophthisic anemias 607060||parkinson disease 8 autosomal dominant 607060||park8 C536643|300266||spastic paraplegia 16 x linked C536643|300266||spg16 D012734||disorders of sex development D012734||ambiguities genital D012734||ambiguity genital D012734||ambiguous genitalia D012734||condition intersex D012734||conditions intersex D012734||differentiation disorder sex D012734||differentiation disorder sexual D012734||differentiation disorders sex D012734||differentiation disorders sexual D012734||disorder sex differentiation D012734||disorder sexual differentiation D012734||disorders of sexual development D012734||disorders sex differentiation D012734||disorders sexual differentiation D012734||genital ambiguities D012734||genital ambiguity D012734||genitalia ambiguous D012734||hermaphroditism D012734||intersex condition D012734||intersex conditions D012734||intersexualities D012734||intersexuality D012734||pseudohermaphroditism D012734||sex development disorder D012734||sex development disorders D012734||sex differentiation disorder D012734||sex differentiation disorders D012734||sexual development disorder D012734||sexual development disorders D012734||sexual differentiation disorder D012734||sexual differentiation disorders D012735||sexual dysfunction physiological D012735||physiological sexual disorder D012735||physiological sexual disorders D012735||physiological sexual dysfunction D012735||physiological sexual dysfunctions D012735||sex disorders D012735||sexual disorder physiological D012735||sexual disorders physiological D012735||sexual dysfunctions physiological 606369|C535500||epileptic encephalopathy lennox gastaut type 606369|C535500||childhood epileptic encephalopathy with diffuse slow spikes and waves 606369|C535500||encephalopathy of childhood 606369|C535500||lennox gastaut syndrome 606369|C535500||macrocephaly and epileptic encephalopathy C535995||deafness hyperuricemia neurologic ataxia C535994||deafness enamel hypoplasia nail defects C535994||bilateral sensorineural hearing loss enamel hypoplasia and nail defects C535994||hearing loss sensorineural with enamel hypoplasia and nail defects C535994||heimler syndrome C535994||sensorineural hearing loss enamel hypoplasia and nail abnormalities C535996||deafness nephritis ano rectal malformation C535996||dominant ano rectal malformation nephritis and nerve deafness C535998||galactocele C535998||galactocoele C535998||galactocoele of childhood C535998||lacteal cyst C535998||lactocele C564377||myopathy distal with early respiratory failure autosomal dominant C538209|117300||dementia familial danish C538209|117300||cerebellar ataxia cataract deafness and dementia or psychosis C538209|117300||cerebral amyloid angiopathy itm2b related 2 C538209|117300||familial danish dementia C538209|117300||fdd C538209|117300||heredopathia ophthalmootoencephalica C538209|117300||hooe C538088||oculocerebrocutaneous syndrome C538088||delleman syndrome C538088||oculo cerebro cutaneous syndrome C538088||orbital cyst with cerebral and focal dermal malformations C564375|C536860|607584||spastic paraplegia 24 autosomal recessive C538087||distal trisomy 10q syndrome C538087||chromosome 10 distal trisomy 10q C538087||chromosome 10 partial trisomy 10q24 qter C538087||chromosome 10 trisomy 10q2 C538087||distal duplication 10q C563047||cleft palate lateral synechia syndrome C563047||cpls syndrome C564378||spastic paraplegia ataxia and mental retardation D000844||ankylosis D000844||ankyloses D012829||silicosis D012829||silicoses C538082||chromosome 1 q42 11 q42 12 duplication C538082||duplication 1q42 11 q42 12 C538082||trisomy 1q42 11 q42 12 C564717|300085||cone rod dystrophy x linked 2 C564717|300085||cod2 C564717|300085||cone dystrophy 2 x linked C564717|300085||cone dystrophy x linked 2 C564717|300085||cordx2 C538081||congenital dislocation of the patella C538081||congenital patellar dislocation D016518|101000||neurofibromatosis 2 D016518|101000||2 neurofibromatosis type D016518|101000||acn D016518|101000||acoustic neurinoma bilateral D016518|101000||acoustic neurinomas bilateral D016518|101000||acoustic neurofibromatoses bilateral D016518|101000||acoustic neurofibromatosis bilateral D016518|101000||acoustic neuroma familial D016518|101000||acoustic neuromas familial D016518|101000||acoustic schwannoma bilateral D016518|101000||acoustic schwannomas bilateral D016518|101000||banf D016518|101000||bilateral acoustic neurinoma D016518|101000||bilateral acoustic neurinomas D016518|101000||bilateral acoustic neurofibromatoses D016518|101000||bilateral acoustic neurofibromatosis D016518|101000||bilateral acoustic schwannoma D016518|101000||bilateral acoustic schwannomas D016518|101000||central neurofibromatoses D016518|101000||central neurofibromatosis D016518|101000||central nf2 neurofibromatoses D016518|101000||central nf2 neurofibromatosis D016518|101000||familial acoustic neuroma D016518|101000||familial acoustic neuromas D016518|101000||neurinoma bilateral acoustic D016518|101000||neurinomas bilateral acoustic D016518|101000||neurofibromatoses bilateral acoustic D016518|101000||neurofibromatoses central D016518|101000||neurofibromatoses central nf2 D016518|101000||neurofibromatoses type 2 D016518|101000||neurofibromatoses type ii D016518|101000||neurofibromatosis acoustic bilateral D016518|101000||neurofibromatosis bilateral acoustic D016518|101000||neurofibromatosis central D016518|101000||neurofibromatosis central nf2 D016518|101000||neurofibromatosis central nf 2 D016518|101000||neurofibromatosis central type D016518|101000||neurofibromatosis ii D016518|101000||neurofibromatosis iis D016518|101000||neurofibromatosis type 2 D016518|101000||neurofibromatosis type ii D016518|101000||neuroma acoustic bilateral D016518|101000||neuroma familial acoustic D016518|101000||neuromas familial acoustic D016518|101000||nf2 D016518|101000||nf2 neurofibromatosis 2 D016518|101000||nf2s neurofibromatosis 2 D016518|101000||schwannoma acoustic bilateral D016518|101000||schwannoma bilateral acoustic D016518|101000||schwannomas bilateral acoustic D016518|101000||type 2 neurofibromatoses D016518|101000||type 2 neurofibromatosis D016518|101000||type ii neurofibromatoses D016518|101000||type ii neurofibromatosis C538086||chromosome 10 ring C538086||ring chromosome 10 614149||nail disorder nonsyndromic congenital 9 614149||anonychia onycholysis isolated 614149||nail dysplasia 614149||ndnc9 614149||onychodystrophy C538085||chromosome 1 uniparental disomy 1q12 q21 C538085||mosaic trisomy 1q12 q21 C538085||uniparental disomy 1q12 q21 C538084||chromosome 1 trisomy 1q42 qter C538084||duplication 1q42 qter C538084||trisomy 1q42 qter C538083||chromosome 1 trisomy 1q32 qter C538083||duplication 1q32 qter C538083||trisomy 1q32 qter C564597|610283||cone rod dystrophy 10 C564597|610283||cord10 C535806||moebius axonal neuropathy hypogonadism C535809||mollica pavone antener syndrome C535809||dwarfism mental retardation and eye abnormality C535809||mollica syndrome C535809||short stature mental retardation and ocular alterations D000849||anomia D000849||amnesic aphasia D000849||anomia color D000849||anomias color D000849||anomic aphasia D000849||anomic dysphasia D000849||anomic dysphasias D000849||aphasia amnesic D000849||aphasia anomic D000849||aphasia nominal D000849||color anomia D000849||color anomias D000849||dysnomia D000849||dysnomias D000849||dysphasia anomic D000849||dysphasia nominal D000849||dysphasias anomic D000849||dysphasias nominal D000849||nominal aphasia D000849||nominal dysphasia D000849||nominal dysphasias C563655|610840||mitral valve prolapse myxomatous 3 C563655|610840||mmvp3 C563655|610840||myxomatous mitral valve prolapse 3 125853|D003924||diabetes mellitus type 2 125853|D003924||adult onset diabetes mellitus 125853|D003924||diabetes mellitus adult onset 125853|D003924||diabetes mellitus ketosis resistant 125853|D003924||diabetes mellitus maturity onset 125853|D003924||diabetes mellitus noninsulin dependent 125853|D003924||diabetes mellitus non insulin dependent 125853|D003924||diabetes mellitus slow onset 125853|D003924||diabetes mellitus stable 125853|D003924||diabetes mellitus type ii 125853|D003924||ketosis resistant diabetes mellitus 125853|D003924||maturity onset diabetes 125853|D003924||maturity onset diabetes insulin resistance susceptibility to included 125853|D003924||maturity onset diabetes mellitus 125853|D003924|606391|C562772||mody 125853|D003924||niddm 125853|D003924||noninsulin dependent diabetes mellitus 125853|D003924||non insulin dependent diabetes mellitus 125853|D003924||slow onset diabetes mellitus 125853|D003924||stable diabetes mellitus 125853|D003924||t2d 125853|D003924||type 2 diabetes mellitus C535801||spranger schinzel myers syndrome C535801||arthromyodysplasia dyscephaly sacral agenesis and hypoplastic digits C535801||cerebroarthrodigital syndrome C563052||digitorenocerebral syndrome C563052||brachydactyly due to absence of distal phalanges C563052||deafness onychodystrophy osteodystrophy and mental retardation syndrome C563052||door syndrome C563052||eronen syndrome C564383||camptosynpolydactyly complex C564383||camptopolydactyly disorganization type C535800|137440|D016098||amyloidosis cerebral with spongiform encephalopathy C535800|137440|D016098||cerebellar ataxia progressive dementia and amyloid deposits in cns C535800||prion dementia C563051||edinburgh malformation syndrome C564382||secretory diarrhea myopathy and deafness C535802||sprengel deformity C535802||high scapula C535802||maladie de sprengel familiale C535802||sprengel apos s shoulder C562718|611881||glycogen storage disease xii C562718|611881||aldoa deficiency C562718|611881||aldolase a deficiency C562718|611881||aldolase deficiency red cell C562718|611881||gsd12 C562718|611881||gsd xii C562718|611881||red cell aldolase deficiency D000853||anophthalmos D000853||anophthalmia D000853||anophthalmias D024801||tauopathies D024801||tauopathy C538098||familial paget apos s disease of bone C538098||paget disease of bone type 1 C564385||migraine familial hemiplegic 4 D000858||anovulation D000858||anovulations D000857||olfaction disorders D000857||anosmia D000857||cacosmia D000857||cacosmias D000857||dysosmia D000857||dysosmias D000857||olfaction disorder D000857||paraosmia D000857||paraosmias D000857||smell disorder D000857||smell disorders C564560|300220||mental retardation x linked syndromic 10 C564560|300220||camr C564560|300220||chorioathetosis with mental retardation and abnormal behavior C564560|300220||mental retardation with chorioathetosis and abnormal behavior C564560|300220||mrxs10 D000855||anorexia D000855||anorexias C538092||pachygyria frontotemporal C538092||autosomal recessive frontotemporal pachygyria D011507||proteinuria D011507||proteinurias C538091||kuzniecky syndrome C538091||pachygyria mental retardation and epilepsy C538091|600176||pachygyria with mental retardation and seizures C536089|254300||congenital myasthenic syndrome ib C536089|254300||cms1b C536089|254300||cms ib C536089|254300||congenital myasthenic syndrome type ib C536089|254300||lgm C536089|254300||myasthenia familial limb girdle C536089|254300||myasthenia limb girdle familial C536089|254300||myasthenic myopathy formerly C538090||ovarian epithelial cancer C538090||epithelial ovarian cancer C538090||ovarian cancer epithelial C538095||pacman dysplasia C538095||epiphyseal stippling with osteoclastic hyperplasia C538095||pacman syndrome C538094||pachyonychia congenita recessive C538094||autosomal recessive pachyonychia congenita D012832||silo filler apos s disease D012832||disease silo filler D012832||disease silo fillers D012832||disease silo filler apos s D012832||disease silo fillers apos D012832||silo filler disease D012832||silo fillers disease D012832||silo fillers apos disease C535816||port wine stain familial multiple C566902|611631||epilepsy familial temporal lobe 4 C566902|611631||epilepsy occipitotemporal lobe and migraine with aura C566902|611631||epolm C566902|611631||etl4 C535815||neutropenia severe chronic C535815||leukopenia benign familial C535815||neutropenia chronic familial D012830||silicotuberculosis D012830||silicotuberculoses D011502||protein energy malnutrition D011502||malnutrition protein calorie D011502||malnutrition protein energy D011502||malnutritions protein energy D011502||marasmus D011502||protein calorie malnutrition C535818||pseudo zellweger syndrome C535818||pseudo zellweger syndrome leukodystrophy C535817||pruritic urticarial papules plaques of pregnancy C535817||polymorphic eruption of pregnancy C535817||pruritic urticarial papules and plaques of pregnancy C535817||pruritic urticarial papules and plaques of pregnancy familial 182290|D058496||smith magenis syndrome 182290|D058496||17p11 2 monosomy 182290|D058496||chromosome 17p11 2 deletion syndrome 182290|D058496||chromosome 17p11 2 deletion syndrome smith magenis chromosome region included 182290|D058496||smcr included 182290|D058496||sms 182290|D058496||syndrome smith magenis 612371|C567529||major affective disorder 7 612371|C567529|C565111|125480|C567530|612357|C567074|611535|612372|C567531|611247|C567073|309200|C564108|C567075|611536|D001714||bipolar affective disorder 612371|C567529||mafd7 C564650|606864||carney stratakis syndrome C564650|606864||paraganglioma and gastric stromal sarcoma C564650|606864||paraganglioma and gastrointestinal stromal tumor C566342|603694||diabetes mellitus noninsulin dependent 3 C566342|603694||niddm3 C566342|603694||noninsulin dependent diabetes mellitus 3 C535810||moloney syndrome C535810||choroidal atrophy alopecia C535810||regional choroidal atrophy and alopecia C564395||spinocerebellar ataxia with epilepsy C564395||myoclonic epilepsy myopathy sensory ataxia C535812||macrosomia obesity macrocephaly ocular abnormalities C535812||macrocrania obesity ocular abnormalities retinal coloboma and nystagmus C535812||macrosomia obesity macrocephaly and ocular abnormalities C535812||momo syndrome 194300||woolly hair autosomal dominant 194300||adwh C564393||vitamin k dependent clotting factors combined deficiency of type 2 C564393|607473||vkcfd2 C538202|609941||deafness autosomal recessive 51 C538202|609941||dfnb51 C535814||neurosarcoidosis C535814||nervous system sarcoidosis 202010|C535978||congenital adrenal hyperplasia due to 11 beta hydroxylase deficiency 202010|C535978||11 beta hydroxylase deficiency 202010|C535978||11b hydroxylase deficiency 202010|C535978||adrenal hyperplasia 4 202010|C535978||adrenal hyperplasia congenital due to 11 beta hydroxylase deficiency 202010|C535978||adrenal hyperplasia congenital due to steroid 11 beta hydroxylase deficiency 202010|C535978||adrenal hyperplasia hypertensive form 202010|C535978||adrenal hyperplasia iv 202010|C535978||congenital adrenal hyperplasia type 4 202010|C535978||hypertensive form of adrenal hyperplasia 202010|C535978||p450c11b1 deficiency 202010|C535978||steroid 11 beta hydroxylase deficiency C565687||collagenosis familial reactive perforating C563024||spastic pseudosclerosis C563024||corticopallidodegeneration C563024||disseminated encephalomyelopathy D000820||animal diseases D000820||diseases animal C564353||cataract congenital with mental impairment and dentate gyrus atrophy C565279|605845||dermatitis atopic 6 C565279|605845||atod6 C563028||splenic hypoplasia C563028||asplenia familial C563028||hyposplenia isolated congenital C565684||combined inflammatory and immunologic defect C564357||hypotrichosis osteolysis periodontitis palmoplantar keratoderma syndrome C565686||coloboma of macula and skeletal anomalies C564356||acute tubulointerstitial nephritis 120050||coxsackievirus b3 susceptibility 120050||cb3s 120050||cxb3s D012805||sickle cell trait D012805||cell trait sickle D012805||cell traits sickle D012805||sickle cell traits D012805||trait sickle cell D012805||traits sickle cell D012806||siderosis D012806||sideroses 611094|C567015||mental retardation autosomal recessive 8 611094|C567015||mrt8 C564256|608340||charcot marie tooth disease recessive intermediate a C564256|608340||charcot marie tooth neuropathy recessive intermediate a C564256|608340||cmtria C564256|608340||ri cmta 614129||perrault syndrome 3 614129||deafness autosomal recessive 81 formerly 614129||dfnb81 formerly 614129||prlts3 D051359|267700||lymphohistiocytosis hemophagocytic D051359|267700||erythrophagocytic lymphohistiocytoses familial D051359|267700||erythrophagocytic lymphohistiocytosis familial D051359|267700||familial erythrophagocytic lymphohistiocytoses D051359|267700||familial erythrophagocytic lymphohistiocytosis D051359|267700||familial hemophagocytic histiocytoses D051359|267700||familial hemophagocytic histiocytosis D051359|267700||familial hemophagocytic lymphocytoses D051359|267700||familial hemophagocytic lymphocytosis D051359|267700||familial hemophagocytic lymphohistiocytoses D051359|267700||familial hemophagocytic lymphohistiocytosis D051359|267700||familial hemophagocytic reticuloses D051359|267700||familial hemophagocytic reticulosis D051359|267700||familial histiocytic reticuloses D051359|267700||familial histiocytic reticulosis D051359|267700||fel D051359|267700||fhl D051359|267700||fhl1 D051359|267700||fhlh D051359|267700||hemophagocytic histiocytoses familial D051359|267700||hemophagocytic histiocytosis familial D051359|267700||hemophagocytic hymphohistiocytoses primary D051359|267700||hemophagocytic hymphohistiocytosis primary D051359|267700||hemophagocytic lymphocytoses familial D051359|267700||hemophagocytic lymphocytosis familial D051359|267700||hemophagocytic lymphohistiocytoses D051359|267700||hemophagocytic lymphohistiocytoses familial D051359|267700||hemophagocytic lymphohistiocytoses primary D051359|267700||hemophagocytic lymphohistiocytosis D051359|267700||hemophagocytic lymphohistiocytosis familial D051359|267700||hemophagocytic lymphohistiocytosis familial 1 D051359|267700||hemophagocytic lymphohistiocytosis primary D051359|267700||hemophagocytic reticuloses familial D051359|267700||hemophagocytic reticulosis familial D051359|267700||hemophagocytic syndrome D051359|267700||hemophagocytic syndrome infection associated D051359|267700||hemophagocytic syndrome reactive D051359|267700||hemophagocytic syndromes D051359|267700||histiocytic reticuloses familial D051359|267700||histiocytic reticulosis familial D051359|267700||histiocytoses familial hemophagocytic D051359|267700||histiocytosis familial hemophagocytic D051359|267700||hlh1 D051359|267700||hplh D051359|267700||hplh1 D051359|267700||hymphohistiocytoses primary hemophagocytic D051359|267700||hymphohistiocytosis primary hemophagocytic D051359|267700||infection associated hemophagocytic syndrome D051359|267700||lymphocytoses familial hemophagocytic D051359|267700||lymphocytosis familial hemophagocytic D051359|267700||lymphohistiocytoses familial erythrophagocytic D051359|267700||lymphohistiocytoses familial hemophagocytic D051359|267700||lymphohistiocytoses hemophagocytic D051359|267700||lymphohistiocytoses primary hemophagocytic D051359|267700||lymphohistiocytosis familial erythrophagocytic D051359|267700||lymphohistiocytosis familial hemophagocytic D051359|267700||lymphohistiocytosis primary hemophagocytic D051359|267700||primary hemophagocytic hymphohistiocytoses D051359|267700||primary hemophagocytic hymphohistiocytosis D051359|267700||primary hemophagocytic lymphohistiocytoses D051359|267700||primary hemophagocytic lymphohistiocytosis D051359|267700||reactive hemophagocytic syndrome D051359|267700||reticuloses familial hemophagocytic D051359|267700||reticuloses familial histiocytic D051359|267700||reticulosis familial hemophagocytic D051359|267700||reticulosis familial histiocytic C535827||pseudohyperkalemia cardiff C535827||cryohydrocytosis C535827||stomatocytosis cold sensitive C535826||pseudodiastrophic dysplasia C535826||pseudodiastrophic dwarfism C535829||pseudotrisomy 13 syndrome C535829||holoprosencephaly polydactyly syndrome C535829||pseudo trisomy 13 syndrome C566472|610475||pigmented nodular adrenocortical disease primary 2 C566472|610475||cushing syndrome adrenal due to ppnad2 C566472|610475||pigmented micronodular adrenocortical disease primary 2 C566472|610475||ppnad2 C535828||pseudoinflammatory fundus dystrophy finnish type C535828||fundus dystrophy pseudoinflammatory recessive form C535828||pseudoinflammatory fundus dystrophy C535828||pseudoinflammatory fundus dystrophy lavia type D052065||vaginismus D012804||sick sinus syndrome D012804||dysfunction sinus node D012804||dysfunctions sinus node D012804||sick sinus node syndrome D012804||sinus node disease D012804||sinus node diseases D012804||sinus node dysfunction D012804||syndrome sick sinus 146350|C564145||hypophosphatemic bone disease 146350|C564145||hbd C535821||pseudoainhum C565693||palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal C535820||pseudoachondroplastic dysplasia 2 C535820||recessive pseudoachondroplasia C535820||spondyloepiphyseal dysplasia pseudoachondroplastic 2 C535823||pseudoaminopterin syndrome C535823||aminopterin syndrome sine aminopterin C566928|611521||tyrosine kinase 2 deficiency C566928|611521||hies with atypical mycobacteriosis autosomal recessive C566928|611521||hyper ige syndrome with atypical mycobacteriosis autosomal recessive C566928|611521||tyk2 deficiency C535824||pseudoangiomatous stromal hyperplasia C535824||mammary pseudoangiomatous stromal hyperplasia C535824||pseudoangiomatous stromal hyperplasia of the breast C564366||niemann pick disease type f C565699|610217||nbia2b C565699||neuroaxonal dystrophy atypical C565699|610217||neurodegeneration with brain iron accumulation 2b C565699|610217||neurodegeneration with brain iron accumulation pla2g6 related C565696||kallmann syndrome 4 C563037||arthritis sacroiliac C564368||epidermolysis bullosa simplex superficialis C535575|275355||carcinoma squamous cell of head and neck C535575|275355||hnscc C535575|275355||squamous cell carcinoma head and neck C535575|275355||squamous cell carcinoma of the head and neck D012818||signs and symptoms respiratory 604173|C565820||poikiloderma with neutropenia 604173|C565820||pn 604173|C565820||poikiloderma with neutropenia clericuzio type D012816||signs and symptoms D012816||symptoms and signs D012817||signs and symptoms digestive C563908|608565||deafness autosomal recessive 35 C563908|608565||dfnb35 D012810||sigmoid diseases D012810||colon disease sigmoid D012810||colon diseases sigmoid D012810||disease sigmoid D012810||disease sigmoid colon D012810||diseases sigmoid D012810||diseases sigmoid colon D012810||sigmoid colon disease D012810||sigmoid colon diseases D012810||sigmoid disease C535838||pancreatic islet cell tumors C535838||islet of langerhans tumor D012811||sigmoid neoplasms D012811||cancer of sigmoid D012811||cancer of the sigmoid D012811||cancer sigmoid D012811||cancer sigmoid colon D012811||colon cancer sigmoid D012811||colon neoplasms sigmoid D012811||neoplasm sigmoid D012811||neoplasm sigmoid colon D012811||neoplasms sigmoid D012811||neoplasms sigmoid colon D012811||sigmoidal cancer D012811||sigmoid cancer D012811||sigmoid colon cancer D012811||sigmoid colon neoplasm D012811||sigmoid colon neoplasms D012811||sigmoid neoplasm C535837||pancreatic carcinoma familial C535837||familial pancreatic carcinoma C535839||pancreatic lipomatosis duodenal stenosis C535839||pancreatic lipomatosis and duodenal atresia D012544|181440||scheuermann disease D012544|181440||adolescent kyphoses D012544|181440||adolescent kyphosis D012544|181440||juvenile kyphoses D012544|181440||juvenile kyphoses scheuermann D012544|181440||juvenile kyphosis D012544|181440||juvenile kyphosis scheuermann D012544|181440||juvenile osteochondrosis of spine D012544|181440||kyphoses adolescent D012544|181440||kyphoses juvenile D012544|181440||kyphoses scheuermann D012544|181440||kyphoses scheuermann juvenile D012544|181440||kyphoses scheuermann apos s D012544|181440||kyphosis adolescent D012544|181440||kyphosis juvenile D012544|181440||kyphosis scheuermann D012544|181440||kyphosis scheuermann juvenile D012544|181440||kyphosis scheuermann apos s D012544|181440||scheuermann juvenile kyphoses D012544|181440||scheuermann juvenile kyphosis D012544|181440||scheuermann kyphoses D012544|181440||scheuermann kyphosis D012544|181440||scheuermann apos s disease D012544|181440||scheuermanns disease D012544|181440||scheuermann apos s kyphoses D012544|181440||scheuermann apos s kyphosis D012544|181440||scheuermanns kyphosis D012544|181440|D055035||spinal osteochondrosis D012544|181440||spine juvenile osteochondroses D012544|181440||spine juvenile osteochondrosis C566400|603204||epilepsy nocturnal frontal lobe type 2 C566400|603204||enfl2 C566400|603204||epilepsy nocturnal frontal lobe 2 D000839||aniseikonia C535832||pulmonary alveolar proteinosis congenital C535832||congenital pulmonary alveolar proteinosis C535831||pterygium colli mental retardation digital anomalies C535831||khalifa graham syndrome C535831||pterygium colli and mental retardation with facial and digital anomalies C535833||pulmonary edema of mountaineers C535833||high altitude pulmonary hypertension 603467||fanconi anemia complementation group f 603467||fancf C535836||pancreatic cancer adult C564370||microphthalmia with cyst bilateral facial clefts and limb anomalies C535835||schwartz cohen addad lambert syndrome C535835||congenital melanocytosis with myelomeningocele and hydrocephalus C538046||chromosome 17 ring C538046||ring chromosome 17 C565665||craniosynostosis with fibular aplasia C563002||opticocochleodentate degeneration D016393||lymphoma b cell D016393||b cell lymphoma D016393||b cell lymphomas D016393||lymphomas b cell D018500|125800||diabetes insipidus nephrogenic D018500|125800||acquired nephrogenic diabetes insipidus D018500|125800||adh resistant diabetes insipidus D018500|125800||congenital nephrogenic diabetes insipidus D018500|125800||diabetes insipidus nephrogenic autosomal D018500|125800||diabetes insipidus nephrogenic type 1 D018500|125800||diabetes insipidus nephrogenic type i D018500|125800||diabetes insipidus nephrogenic type ii D018500|125800||diabetes insipidus nephrogenic x linked D018500|125800||diabetes insipidus renalis D018500|125800||ndi D018500|125800||nephrogenic diabetes insipidus D018500|125800||nephrogenic diabetes insipidus type i D018500|125800||nephrogenic diabetes insipidus type ii D018500|125800||vasopressin resistant diabetes insipidus C538045||chromosome 17 deletion C538045||17p syndrome C538045||chromosome 17p deletion syndrome C538045||deletion 17p syndrome C538045||interstitial deletion 17p C538045||partial monosomy 17p C566997||aplasia cutis congenita congenital heart defect and frontonasal cysts C565666||craniosynostosis with anomalies of the cranial base and digits C538044||chromosome 17 trisomy C538044||chromosome 17 duplication C538044||trisomy 17 C538044||trisomy 17 mosaicism C562594|232220||glycogen storage disease ib C562594|232220||glucose 6 phosphate transport defect C562594|232220||gsd1b C562594|232220||gsd ib C565667||craniosynostosis microcephaly with chromosomal breakage and other abnormalities C538043||chromosome 16 uniparental disomy C538043||uniparental disomy of 16 C567857|612937||congenital disorder of glycosylation type io C567857|612937||cdg1 dpm3 C567857|612937||cdg1o C567857|612937||cdgio C567857|612937||cdg io C565661||cutis verticis gyrata and mental deficiency C538049||deafness oligodontia syndrome C538049||autosomal recessive sensorineural hearing impairment dizziness and hypodontia C538049||congenital profound sensorineural deafness and oligodontia C566993||ataxia spastic 1 autosomal dominant C538048||chromosome 17 trisomy 17p C538048||duplication 17p C538048||trisomy 17p C566994||tooth agenesis selective with orofacial cleft C565663||craniosynostosis mental retardation clefting syndrome C538047||chromosome 17 deletion 17q23 q24 C538047||deletion 17q23 q24 C538047||monosomy 17q23 q24 C566995||hypodontia oligodontia with orofacial cleft C565664||craniosynostosis mental retardation syndrome of lin and gettig C563003||pallidopontonigral degeneration C563009|138500||glycinuria with or without oxalate urolithiasis C563009|138500||glycinuria with or without oxalate nephrolithiasis C563009|138500||iminoglycinuria type ii 145000|C564166||hyperparathyroidism 1 145000|C564166||familial isolated hyperparathyroidism 145000|C564166||hrpt1 145000|C564166||hyperparathyroidism familial isolated primary 145000|C564166||hyperparathyroidism familial isolated primary fihp parathyroid adenoma familial included 145000|C564166||parathyroid adenoma familial C563007||hypochondrogenesis 263000|C562470||interstitial pneumonitis desquamative familial 263000|C562470||dip 263000|C562470||ild desquamative 263000|C562470||interstitial lung disease desquamative 263000|C562470||pneumonia desquamative interstitial familial 263000|C562470||pneumonitis desquamative interstitial familial C538042||chromosome 16 trisomy 16q C538042||duplication 16q C538042||trisomy 16q C538041||chromosome 16 trisomy C538041||mosaic trisomy 16 C538041||trisomy 16 C538040||chromosome 15q trisomy C538040||duplication 15q C538040||trisomy 15q C566815|169100||char syndrome C566815|169100||char C566815|169100||patent ductus arteriosus with facial dysmorphism and abnormal fifth digits D056807|207900||argininosuccinic aciduria D056807|207900||acidemia argininosuccinate D056807|207900||acidemias argininosuccinate D056807|207900||aciduria argininosuccinic D056807|207900||acidurias argininosuccinic D056807|207900||arginino succinase deficiencies D056807|207900||argininosuccinase deficiency D056807|207900||arginino succinase deficiency D056807|207900||argininosuccinate acidemia D056807|207900||argininosuccinate acidemias D056807|207900||argininosuccinate lyase deficiencies D056807|207900||argininosuccinate lyase deficiency D056807|207900||argininosuccinic acidemia D056807|207900||argininosuccinic acid lyase deficiency D056807|207900||argininosuccinicaciduria D056807|207900||argininosuccinicacidurias D056807|207900||argininosuccinic acidurias D056807|207900||argininosuccinyl coa lyase deficiency D056807|207900||arginosuccinase deficiency D056807|207900||asa deficiencies D056807|207900||asa deficiency D056807|207900||asauria D056807|207900||asl deficiencies D056807|207900||asl deficiency D056807|207900||deficiencies arginino succinase D056807|207900||deficiencies argininosuccinate lyase D056807|207900||deficiencies asa D056807|207900||deficiencies asl D056807|207900||deficiency arginino succinase D056807|207900||deficiency argininosuccinate lyase D056807|207900||deficiency asa D056807|207900||deficiency asl D056807|207900||inborn error of urea synthesis arginino succinic type D056807|207900||urea cycle disorder arginino succinase type D003085||colic D003085||abdominal cramp D003085||abdominal cramps D003085||colic infantile D003085||colicky pain D003085||cramp abdominal D003085||cramps abdominal D003085||infantile colic D003085||pain colicky C567650|613308||diamond blackfan anemia 9 C567650|613308||dba9 261800|D010855||pierre robin syndrome 261800|D010855||glossoptosis micrognathia and cleft palate 261800|D010855||pierre robin sequence 261800|D010855||pierre robin apos s sequence 261800|D010855||pierre robins sequence 261800|D010855||robin syndrome pierre 261800|D010855||sequence pierre robin 261800|D010855||sequence pierre robin apos s 261800|D010855||syndrome pierre robin 612554|C567259||myopia 16 612554|C567259||myopia 16 autosomal dominant 612554|C567259||myp16 D016388||tooth loss D016388||loss tooth C564683|606664||glycine n methyltransferase deficiency C564683|606664||deficiency of methionine adenosyltransferase C564683|606664||gnmt deficiency C564683|606664||hepatic methionine adenosyltransferase deficiency C564683|606664||hypermethioninemia C564683|606664||methioninemia C564683|606664||s adenosylhomocysteine hydrolase deficiency C563013||membranous obstruction of inferior vena cava C536017|200610||achondrogenesis type 2 C536017|200610||acg2 C536017|200610||achondrogenesis langer saldino type C536017|200610||achondrogenesis type ib formerly hypochondrogenesis included C536017|200610||achondrogenesis type ii C536017|200610||chondrogenesis imperfecta C536017|200610||langer saldino achondrogenesis C564344||leukodystrophy dysmyelinating with oligodontia C564344||dentoleukoencephalopathy C538056||agammaglobulinemia non bruton type C538056||agammaglobulinemia autosomal recessive C538056||agammaglobulinemia due to early prob cell defect C538056||agammaglobulinemia non bruton type autosomal recessive C538055||agammaglobulinemia microcephaly and severe dermatitis C565678||convulsive disorder familial with prenatal or early onset C564342||noonan like syndrome with loose anagen hair C538054||aerobic actinomyces infection C565679||contractures congenital torticollis and malignant hyperthermia C565672||cranial nerves recurrent paresis of C563017||gigantiform cementoma familial C563017||cemental dysplasia periapical C563017||cementomas familial multiple C565673||cranial nerves congenital paresis of C538059||agnathia microstomia synotia C538059||agnathia microstomia synotia and cardiac and pulmonary maldevelopment C538059||plurimalformative syndrome C565674||cortical blindness retardation and postaxial polydactyly C538058||aganglionosis total intestinal C538058||near total intestinal aganglionosis C563014||facial hemihypertrophy C563014||hemifacial hyperplasia C564345||parkinson disease 11 C564345|607688||park11 D047508||massive hepatic necrosis D047508||acute yellow atrophies D047508||acute yellow atrophy D047508||acute yellow atrophy of liver D047508||hepatic necrosis massive D047508||yellow atrophy acute D064068||collagenous sprue D064068||collagenous sprues D064068||sprue collagenous D064068||sprues collagenous D038921|303600||coffin lowry syndrome D038921|303600||cls D038921|303600||coffin syndrome D038921|303600||mental retardation with osteocartilaginous abnormalities D038921|303600||syndrome coffin D038921|303600||syndrome coffin lowry D003398|123100||craniosynostoses D003398|123100||acrocephaly D003398|123100||anterior plagiocephalies synostotic D003398|123100||anterior plagiocephaly synostotic D003398|123100||brachycephalies D003398|123100||brachycephaly D003398|123100||coronal synostoses unilateral D003398|123100||coronal synostosis unilateral D003398|123100||craniostenoses D003398|123100||craniostenosis D003398|123100||craniosynostoses lambdoidal D003398|123100||craniosynostosis D003398|123100||craniosynostosis 1 D003398|123100||craniosynostosis 4 D003398|123100||craniosynostosis lambdoidal D003398|123100||craniosynostosis plagiocephalies D003398|123100||craniosynostosis plagiocephaly D003398|123100||craniosynostosis type 1 D003398|123100||crs D003398|123100||crs1 D003398|123100||crs4 D003398|123100||lambdoidal craniosynostoses D003398|123100||lambdoidal craniosynostosis D003398|123100||lambdoid synostoses D003398|123100||lambdoid synostosis D003398|123100||metopic synostoses D003398|123100||metopic synostosis D003398|123100||oxycephaly D003398|123100||plagiocephalies craniosynostosis D003398|123100||plagiocephalies synostotic D003398|123100||plagiocephalies synostotic anterior D003398|123100||plagiocephalies synostotic posterior D003398|123100||plagiocephaly craniosynostosis D003398|123100||plagiocephaly synostotic D003398|123100||plagiocephaly synostotic anterior D003398|123100||plagiocephaly synostotic posterior D003398|123100||posterior plagiocephalies synostotic D003398|123100||posterior plagiocephaly synostotic D003398|123100||sagittal synostoses D003398|123100||sagittal synostosis D003398|123100||scaphocephalies D003398|123100||scaphocephaly D003398|123100||synostoses lambdoid D003398|123100||synostoses metopic D003398|123100||synostoses sagittal D003398|123100||synostoses unilateral coronal D003398|123100||synostosis lambdoid D003398|123100||synostosis metopic D003398|123100||synostosis sagittal D003398|123100||synostosis unilateral coronal D003398|123100||synostotic anterior plagiocephalies D003398|123100||synostotic anterior plagiocephaly D003398|123100||synostotic plagiocephalies D003398|123100||synostotic plagiocephaly D003398|123100||synostotic posterior plagiocephalies D003398|123100||synostotic posterior plagiocephaly D003398|123100||trigonocephalies D003398|123100||trigonocephaly D003398|123100||unilateral coronal synostoses D003398|123100||unilateral coronal synostosis C535424|176860||congenital thrombotic disease due to protein c deficiency C535424|176860||proc deficiency C535424|176860||proc deficiency autosomal dominant protein c deficiency acquired included C535424|176860|C567163||protein c deficiency autosomal dominant C535424|176860||thph3 C535424|176860||thrombophilia due to protein c deficiency autosomal dominant C535424|176860||thrombophilia hereditary due to pc deficiency C536771|601706||yemenite deaf blind hypopigmentation syndrome C536771|601706||warburg thomsen syndrome C536771|601706||yemenite warburg deaf blind hypopigmentation syndrome C538051||adrenomyodystrophy D003095||collagen diseases D003095||collagen disease D003095||disease collagen D003095||diseases collagen D003092||colitis D003092||colitides 604772||ventricular tachycardia catecholaminergic polymorphic 1 with or without atrial dysfunction and or dilated cardiomyopathy 604772||cpvt1 604772|611938||ventricular tachycardia stress induced polymorphic 604772|611938||vtsip C565681||terminal transverse defects of arm C565682||amputation congenital 121050|C536211||congenital contractural arachnodactyly 121050|C536211||arachnodactyly contractural beals type 121050|C536211||arthrogryposis distal type 9 121050|C536211||beals hecht syndrome 121050|C536211||beals syndrome 121050|C536211||cca 121050|C536211||contractural arachnodactyly congenital 121050|C536211||contractures multiple with arachnodactyly 121050|C536211||da9 121050|C536211||ear anomalies contractures dysplasia of bone with kyphoscoliosis C566930|611498||nephronophthisis 7 C566930|611498||nphp7 D016399||lymphoma t cell D016399||lymphomas t cell D016399||t cell lymphoma D016399||t cell lymphomas C566975||febrile convulsions familial 8 C565644||deafness conductive with malformed external ear C565645||deafness cochlear with myopia and intellectual impairment C566557|613313||hemochromatosis type 2b C566557|613313||hfe2b C563854|608807||muscular dystrophy limb girdle type 2j C563854|608807||lgmd2j C538065|136760||frontonasal dysplasia C538065|136760||frontonasal malformation C538065|136760||frontorhiny C538065|136760||median facial cleft syndrome C565646||deafness congenital with total albinism D015043||zollinger ellison syndrome D015043||syndrome zollinger ellison C565640||deafness neural congenital moderate C564680|606675||inflammatory bowel disease 4 C564680|606675||ibd4 C564313||epilepsy myoclonic benign adult familial type 2 C564313|607876||bafme2 C564313|607876||benign adult familial myoclonic epilepsy 2 C564313|607876||cortical myoclonus and epilepsy autosomal dominant C564313|607876||epilepsy familial adult myoclonic 2 C564313|607876||fame2 C538069||fryns hofkens fabry syndrome C538069||ulna hypoplasia C538069||ulnar hypoplasia C538069||upper limb mesomelic dysplasia C566973||dystonia focal task specific C566973||focal hand dystonia C566973||focal task specific dystonia C566973||occupational cramp C566973||occupational dystonia C566973||task specific dystonia C566973||task specific focal dystonia C565642||deafness congenital with vitiligo and achalasia C564312|278150|D007039||hypotrichosis localized autosomal recessive 1 C564312|278150|D007039||hypotrichosis localized autosomal recessive C564317||muscular dystrophy congenital due to partial lama2 deficiency C566978||copd severe early onset C538063||fronto facio nasal dysplasia C538063||fronto facio nasal dysostosis C538063||frontofacionasal dysostosis C538063||frontofacionasal dysplasia C538062||frints de smet fabry fryns syndrome C538062||symbrachydactyly of the hand and foot C565649||deafness congenital and familial myoclonic epilepsy C538061||friedreich ataxia congenital glaucoma C538061||congenital glaucoma and friedreich ataxia C538061||friedreich ataxia and congenital glaucoma D004393||dwarfism pituitary D004393||dwarfism growth hormone deficiency D004393||growth hormone deficiency dwarfism D004393||hypophysial dwarf D004393||hyposomatotrophic dwarfism D004393||isolated gh deficiency D004393||isolated growth hormone deficiency D004393||isolated hgh deficiency D004393||isolated human growth hormone deficiency D004393||isolated somatotropin deficiency D004393||isolated somatotropin deficiency disorder D004393||nanism pituitary D004393||pituitary dwarf D004393||pituitary dwarfism D004393||pituitary nanism D004392||dwarfism D004392||nanism C536048|610682||osteogenesis imperfecta type 7 C536048|610682||oi2b formerly C536048|610682|C565200||oi7 C536048|610682|C565200||oi type vii C536048|610682||osteogenesis imperfecta type iib formerly C536048|610682|C565200||osteogenesis imperfecta type vii C536213|606785||crigler najjar syndrome type 2 C536213|606785||crigler najjar syndrome type ii C536213|606785||hblrcn2 C536213|606785||hyperbilirubinemia crigler najjar type ii D028361||mitochondrial diseases D028361||deficiencies oxidative phosphorylation D028361||deficiencies respiratory chain D028361||deficiency oxidative phosphorylation D028361||deficiency respiratory chain D028361||disease mitochondrial D028361||disorder mitochondrial D028361||disorders mitochondrial D028361||electron transport chain deficiencies mitochondrial D028361||mitochondrial disease D028361||mitochondrial disorder D028361||mitochondrial disorders D028361||mitochondrial electron transport chain deficiencies D028361||mitochondrial respiratory chain deficiencies D028361||oxidative phosphorylation deficiencies D028361||oxidative phosphorylation deficiency D028361||phosphorylation deficiencies oxidative D028361||phosphorylation deficiency oxidative D028361||respiratory chain deficiencies mitochondrial D028361||respiratory chain deficiency D017699||pelvic pain D017699||pain pelvic D017699||pains pelvic D017699||pelvic pains D016369||smear layer D016369||layer smear D017695||soft tissue injuries D017695||injuries soft tissue D017695||injury soft tissue D017695||soft tissue injury D017696||myopathies nemaline D017696||adult onset nemaline myopathy D017696||autosomal dominant nemaline myopathy D017696||autosomal recessive nemaline myopathy D017696||childhood onset nemaline myopathy D017696||late onset nemaline myopathy D017696||myopathies rod D017696||myopathies rod body D017696||myopathy nemaline D017696||myopathy rod D017696||myopathy rod body D017696||nemaline body disease D017696||nemaline myopathies D017696||nemaline myopathy D017696||nemaline myopathy adult onset D017696||nemaline myopathy autosomal dominant D017696||nemaline myopathy autosomal recessive D017696||nemaline myopathy childhood onset D017696||nemaline myopathy late onset D017696||nemaline rod disease D017696||rod body disease D017696||rod body myopathies D017696||rod body myopathy D017696||rod myopathies D017696||rod myopathy C538079||charcot marie tooth disease with ptosis and parkinsonism C566985||microphthalmia syndromic 10 C566985||mcops10 C566985||microphthalmia and brain atrophy C538078|C566136|118300||charcot marie tooth disease and deafness C538078||deafness with charcot marie tooth disease C538078||neuropathy hereditary motor and sensory with deafness mental retardation and absent sensory large myelinated fibers C565655||cystinosis infantile nephropathic C538077||charcot marie tooth type 1 aplasia cutis congenita C538077||charcot marie tooth peroneal muscular atrophy x linked with aplasia cutis congenita C566988||hypertelorism severe with midface prominence myopia mental retardation and bone fragility C565657||cystic kidney disease with ventriculomegaly 142330|C564190||hepatic adenomas familial 142330|C564190||liver cell adenomas familial C566981||creutzfeldt jakob disease heidenhain variant C564325||charcot marie tooth disease autosomal dominant type 2k C565652||cystinuria type a C565652||cystinuria type a b C565652||cystinuria type b D015051||zygomatic fractures D015051||fractures zygomatic D015051||fracture zygomatic D015051||zygomatic fracture C564323||neuroticism C538071||fuchs atrophia gyrata chorioideae et retinae C538071||fuchs gyrate atrophy C538071||fuchs gyrate atrophy of the choroid and retina C538070||fryns syndrome C538070||diaphragmatic hernia abnormal face and distal limb anomalies C538070||moerman van den berghe fryns syndrome C564329||alzheimer disease familial 3 with spastic paraparesis and unusual plaques C538075||chang davidson carlson syndrome C566989||short stature mental retardation callosal agenesis heminasal hypoplasia microphthalmia and atypical clefting C565658||cystic fibrosis with helicobacter pylori gastritis megaloblastic anemia and subnormal mentality C538074||curly hair ankyloblepharon nail dysplasia syndrome C538074||chands C565659||cysteine peptiduria 182230|C531815||hypopituitarism and septooptic apos dysplasia apos 182230|C531815||cphd5 included 182230|C531815||de morsier syndrome pituitary hormone deficiency combined 5 included 182230|C531815||growth hormone deficiency with pituitary anomalies included C538072||cervical ribs sprengel anomaly anal atresia urethral obstruction C538072||cervical ribs sprengel anomaly anal atresia and urethral obstruction C538072||cervical ribs sprengel anomaly preaxial polydactyly anal atresia and urethral obstruction D003072||cognition disorders D003072||disorder cognition D003072||disorders cognition D003072||overinclusion D003074||solitary pulmonary nodule D003074||coin lesion pulmonary D003074||coin lesions pulmonary D003074||lesion pulmonary coin D003074||lesions pulmonary coin D003074||nodule solitary pulmonary D003074||nodules solitary pulmonary D003074||pulmonary coin lesion D003074||pulmonary coin lesions D003074||pulmonary nodule solitary D003074||pulmonary nodules solitary D003074||solitary pulmonary nodules C565633|221900||retinal nonattachment nonsyndromic congenital C565633|221900||detachment of retina congenital C565633|221900||ncrna C565633|221900||retinal detachment congenital C565633|221900||rnanc D015047||zoonoses D015047||diseases zoonotic D015047||diseases zoonotic infectious D015047||disease zoonotic D015047||disease zoonotic infectious D015047||infections zoonotic D015047||infection zoonotic D015047||infectious diseases zoonotic D015047||infectious disease zoonotic D015047||zoonotic disease D015047||zoonotic diseases D015047||zoonotic infection D015047||zoonotic infections D015047||zoonotic infectious disease D015047||zoonotic infectious diseases C565660||cyanosis and hepatic disease D064090||intraocular lymphoma D064090||intraocular lymphomas D064090||lymphoma intraocular D064090||lymphomas intraocular 611277|C565811||generalized epilepsy with febrile seizures plus type 3 611277|C565811||feb8 included 611277|C565811||gefsp3 611277|C565811||gefs type 3 611277|C565811||gefs type 3 gefs 3 febrile seizures familial 8 included C567097|611722||krabbe disease atypical due to saposin a deficiency C567097|611722||saposin a deficiency C540322||hemorrhagic jaundice C540322||icterohemorrhagic fever C565621||disseminated sclerosis with narcolepsy C538000||dystelephalangy C538000||kirner deformity D017682||myocardial stunning D017682||hibernation myocardial D017682||myocardial hibernation D017682||myocardium stunned D017682||stunned myocardium D017682||stunning myocardial C565624||2 4 dienoyl coa reductase deficiency C538004|128101|C536698||dystonia musculorum deformans 4 C538004|128101|C536698||dystonia 4 torsion autosomal dominant C538004||torsion dystonia 4 autosomal dominant type C566950||hypotrichosis localized autosomal recessive 3 C565620||diverticulosis small intestinal D004368||dry socket D004368||alveolalgia D004368||alveolalgias D004368||alveolar osteitides D004368||alveolar osteitis D004368||alveolar periostitides D004368||alveolar periostitis D004368||alveolitis sicca dolorosa D004368||dry sockets D004368||osteitides alveolar D004368||osteitis alveolar D004368||periostitides alveolar D004368||periostitis alveolar D004368||socket dry D004368||sockets dry C566956||ataxia spastic 3 autosomal recessive C566956|611390||autosomal recessive spastic ataxia with leukoencephalopathy C565626||diastrophic dysplasia broad bone platyspondylic variant 600628|D058247||loose anagen hair syndrome 600628|D058247||anagen syndrome loose 600628|D058247||anagen syndromes loose 600628|D058247||loose anagen syndrome 600628|D058247||loose anagen syndromes 600628|D058247||syndrome loose anagen 600628|D058247||syndromes loose anagen C565627||trichohepatoenteric syndrome C565627||diarrhea fatal infantile with trichorrhexis nodosa C565627||diarrhea syndromic 304400|C536424||progressive hearing loss stapes fixation 304400|C536424||deafness 3 conductive with stapes fixation 304400|C536424||deafness conductive with stapes fixation 304400|C536424||deafness mixed with perilymphatic gusher 304400|C536424||deafness x linked 2 304400|C536424||dfn3 304400|C536424||dfnx2 304400|C536424||nance deafness 304400|C536424||perilymphatic gusher deafness syndrome 304400|C536424||sensorineural deafness profound with or without a conductive component 304400|C536424||sensorineural deafness profound with or without a conductive component associated with a unique developmental abnormality of the ear C538374|602485||hyperinsulinemic hypoglycemia familial 3 C538374|602485||hhf3 D015012||yersinia pseudotuberculosis infections D015012||infections yersinia pseudotuberculosis D015012||pasteurella pseudotuberculoses D015012||pasteurella pseudotuberculosis D015012||pseudotuberculoses pasteurella D015012||pseudotuberculosis pasteurella D017674||hypophosphatemia D017674||hypophosphatemias D017675||crest syndrome D017675||calcinosis raynaud phenomenon sclerodactyly telangiectasia D017675||calcinosis raynaud apos s phenomenon esophageal dismobility sclerodactyly telangiectasia syndrome D017675||crest syndromes D017675||crst syndrome D017675||crst syndromes D017675||phenomenon sclerodactyly telangiectasia calcinosis raynaud D017675||syndrome crest D017675||syndrome crst D017676||lichen planus oral D017676||oral lichen planus 103580|D011547||pseudohypoparathyroidism type ia 103580|D011547||albright hereditary osteodystrophy with multiple hormone resistance 103580||php1a 103580|D011547||php ia C565632||diabetes insipidus nephrogenic with mental retardation and intracerebral calcification D006502|600880||budd chiari syndrome D006502|600880||bdchs D006502|600880||chiari apos s syndrome D006502|600880||chiaris syndrome D006502|600880||chiari syndrome D006502|600880||hepatic vein thromboses D006502|600880||hepatic vein thrombosis D006502|600880||hepatic venous outflow obstruction D006502|600880||membranous obstruction of inferior vena cava included D006502|600880||movc included D006502|600880||thromboses hepatic vein D006502|600880||thrombosis hepatic vein D006502|600880||vein thromboses hepatic D006502|600880||vein thrombosis hepatic C538011||eales disease C538011||idiopathic obliterative vasculopathy C538011||idiopathic recurrent vitreal hemorrhage C538010||eagle syndrome C538010||eagle apos s syndrome C538010||elongated styloid process syndrome C538010||styloid stylohoid syndrome C566966||persistent hyperplastic primary vitreous autosomal recessive C566966||persistent hyperplastic primary vitreous autosomal dominant C538016||ectodermal dysplasia alopecia preaxial polydactyly C538016||absence of body amp scalp hair rounded nails thin dental enamel preaxial polydactyly of the feet and unusual facial appearance C564303||thai symphalangism syndrome C538015||ectodermal dysplasia adrenal cyst C538015||adrenal cyst with ectodermal dysplasia C538015||ectodermal dysplasia with adrenal cyst C565630||diaminopentanuria C565630||cystine lysinuria 165800|C580095||osteochondritis dissecans short stature and early onset osteoarthritis 165800||od 611938|C536334||ventricular tachycardia catecholaminergic polymorphic 2 611938|C536334||cpvt2 C565631||wolfram like syndrome autosomal dominant D003047||coccidioidomycosis D003047||coccidioides immitis infection D003047||coccidioides immitis infections D003047||coccidioidomycoses D003047||infection coccidioides immitis D003047||infections coccidioides immitis D003047||san joaquin valley fever D003047||valley fever D003047||valley fevers D004379||duodenal neoplasms D004379||cancer duodenal D004379||cancer of duodenum D004379||cancer of the duodenum D004379||duodenal cancer D004379||duodenal neoplasm D004379||duodenum cancer D004379||neoplasm duodenal D004379||neoplasms duodenal D003048||coccidiosis D003048||besnoitiases D003048||besnoitiasis D003048||besnoitioses D003048||besnoitiosis D003048||coccidioses D004378||duodenal diseases D004378||disease duodenal D004378||diseases duodenal D004378||duodenal disease C564307||combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia C564307||spondyloenchondrodysplasia with immune dysregulation C564305||diaphanospondylodysostosis C564305||vertebral ossification defect in with nephrogenic rests D003043||cocarcinogenesis D003043||cocarcinogeneses C565637||deafness sensorineural autosomal mitochondrial type D004377||dumping syndrome D004377||dumping syndromes D004377||syndrome dumping D004377||syndromes dumping C566969||ataxia spastic 2 autosomal recessive C565111|125480||major affective disorder 1 C565111|125480|C567074|611535|611247|C567073|309200|C564108|C567075|611536||bpad C565111|125480||mafd1 C565111|125480|D001714||manic depressive psychosis C565111|125480||manic depressive psychosis autosomal C565111|125480||md1 C565639||deafness neural with atypical atopic dermatitis C563713|609469||nephropathy progressive with deafness C563713|609469||alport focal segmental glomerulosclerosis like syndrome C563713|609469||nede D004382||duodenitis D004382||duodenitis erosive D004382||erosive duodenitis D004381||duodenal ulcer D004381||curling apos s ulcer D004381||curlings ulcer D004381||curling ulcer D004381||duodenal ulcers D004381||ulcer curling D004381||ulcer duodenal D004381||ulcers duodenal D004383||duodenogastric reflux D004383||duodenal reflux D004383||duodenal refluxs D004383||duodeno gastric reflux D004383||reflux duodenal D004383||reflux duodenogastric D004383||reflux duodeno gastric C537914|215045||chondrodysplasia blomstrand type C537914|215045||blomstrand lethal osteochondrodysplasia C537914|215045||blomstrand osteochondrodysplasia C537914|215045||blomstrand syndrome C537914|215045||bocd C537914|215045||lethal congenital dwarfism with accelerated skeletal maturation D004380||duodenal obstruction D004380||duodenal obstructions D004380||obstruction duodenal D004380||obstructions duodenal C535696|154276||malignant hyperthermia susceptibility type 3 C535696|154276||malignant hyperpyrexia susceptibility type 3 C535696|154276||malignant hyperthermia susceptibility to 3 C535696|154276||mhs3 D017688||cholera morbus D017688||choleras summer D017688||cholera summer D017688||summer cholera D017688||summer choleras D017689||polydactyly D017689||hyperdactylies D017689||hyperdactyly D017689||polydactylia D017689||polydactylias D017689||polydactylies D017689||polydactylism D017689||polydactylisms C538133|612933||lactate dehydrogenase deficiency type a C538133|612933|D005198|134600||glycogen storage disease xi C538133|612933||gsd11 C538133|612933||gsd xi C538133|612933||lactate dehydrogenase a deficiency 184252|C535797||spondylometaphyseal dysplasia kozlowski type 184252|C535797||smdk 184252|C535797||smd kozlowski type D059525||supraglottitis D059525||supraglottitides C565740|604864||osteoarthritis with mild chondrodysplasia C538024||chromosome 9p deletion syndrome C538024||chromosome 9 monosomy 9p C538024||monosomy 9p C538024||monosomy 9p syndrome C538023||chromosome 9 duplication 9q21 C538023||disomy 9q21 C538023||duplication 9q21 C565600||ehlers danlos syndrome with platelet dysfunction from fibronectin abnormality C565600||ehlers danlos syndrome dysfibronectinemic type C565600||ehlers danlos syndrome type x C538022||chromosome 9 ring C538022||ring 9 chromosome C565601||ectrodactyly polydactyly C538021||chromosome 9 inversion or duplication C538021||trisomy 9 translocation C566933|611490||osteopetrosis autosomal recessive 4 C566933|611490||osteopetrosis infantile malignant 2 C536987|257300||mosaic variegated aneuploidy syndrome C536987|257300||chromosomal mosaicism due to mitotic instability C536987|257300||instability mitotic non disjunction syndrome C536987|257300||mixoploidy familial C536987|257300||mosaicism chromosomal C536987|257300||mosaic variegated aneuploidy syndrome 1 C536987|257300||mva1 C536987|257300||mva syndrome C536987|257300||nondisjunction C538028||chromosome 9 trisomy C538028||duplication 9 C538028||trisomy 9 C538027||chromosome 9 tetrasomy 9p C538027||chromosome 9 tetrasomy 9p mosaicism C538027||mosaic tetrasomy 9p C538027||tetrasomy 9p C538027||tetrasomy short arm of chromosome 9 C538026||chromosome 9 partial trisomy 9p C538026||duplication 9p partial C538026||trisomy 9p partial C538025||chromosome 9 partial monosomy 9p C538025||9p partial monosomy C538025||9p syndrome partial C538025||deletion 9p syndrome partial C538025||distal monosomy 9p C538025||partial deletion of short arm of chromosome 9 C567463|300756||alzheimer disease 16 C567463|300756||ad16 C566938||mpgn ii with complement factor h deficiency D003015||clostridium infections D003015||clostridium infection D003015||infection clostridium D003015||infections clostridium C565334|605375||epilepsy nocturnal frontal lobe type 3 C565334|605375||enfl3 C565334|605375||epilepsy nocturnal frontal lobe 3 C566939||glomerulonephritis with isolated c3 deposits and factor h deficiency C566939||membranoproliferative glomerulonephritis type ii with complement factor h deficiency C565608||dystonia with ringbinden D004342||drug hypersensitivity D004342||allergies drug D004342||allergy drug D004342||drug allergies D004342||drug allergy D004342||drug hypersensitivities D004342||hypersensitivities drug D004342||hypersensitivity drug C538020||chromosome 8 trisomy 8q C538020||duplication 8q C538020||trisomy 8q C566934||corticosteroid binding globulin elevated C565603||cleft lip with or without cleft palate nonsyndromic 7 C565604||ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia C565605||ectodermal dysplasia hypohidrotic with hypothyroidism and agenesis of the corpus callosum C563791|609128||arthrogryposis distal type 4 C563791|609128||arthrogryposis distal type iid C563791|609128||arthrogryposis with severe scoliosis C563791|609128||da4 C563791|609128||daiid D005674||fusobacterium infections D005674||fusobacterium infection D005674||infection fusobacterium D005674||infections fusobacterium D005674||infection sphaerophorus D005674||infections sphaerophorus D005674||necrobacilloses D005674||necrobacillosis D005674||sphaerophorus infection D005674||sphaerophorus infections C565606||ectodermal dysplasia and neurosensory deafness C553654||congenital deficiency of pulmonary surfactant protein b C553654||congenital surfactant protein b deficiency C553654||pulmonary surfactant protein b deficiency of C553654||surfactant protein b deficiency 253600|C535895||limb girdle muscular dystrophy type 2a 253600|C535895||calpainopathy 253600|C535895||calpainopathy myositis eosinophilic included 253600|C535895||leyden moebius muscular dystrophy 253600|C535895||lgmd2 253600|C535895||lgmd2a 253600|C535895||limb girdle muscular dystrophy type 2 253600|C535895||muscular dystrophy limb girdle type 2 253600|C535895||muscular dystrophy limb girdle type 2a 253600|C535895||muscular dystrophy pelvofemoral 114480|D001943||breast neoplasms 114480|D001943||breast cancer 114480|D001943||breast cancer familial breast cancer familial male included 114480|D001943||breast carcinoma 114480|D001943||breast neoplasm 114480|D001943||breast tumor 114480|D001943||breast tumors 114480|D001943||cancer breast 114480|D001943||cancer of breast 114480|D001943||cancer of the breast 114480|D001943||carcinoma human mammary 114480|D001943||carcinomas human mammary 114480|D001943||human mammary carcinoma 114480|D001943||human mammary carcinomas 114480|D001943||human mammary neoplasm 114480|D001943||human mammary neoplasms 114480|D001943||malignant neoplasm of breast 114480|D001943||malignant tumor of breast 114480|D001943||mammary cancer 114480|D001943||mammary carcinoma human 114480|D001943||mammary carcinomas human 114480|D001943||mammary neoplasm human 114480|D001943||mammary neoplasms human 114480|D001943||neoplasm breast 114480|D001943||neoplasm human mammary 114480|D001943||neoplasms breast 114480|D001943||neoplasms human mammary 114480|D001943||tumor breast 114480|D001943||tumors breast C566976|611276||glaucoma 1 open angle h C566976|611276||glc1h C562704|173100||isolated growth hormone deficiency type ii C562704|173100||growth hormone deficiency isolated autosomal dominant C562704|173100||ighd2 C562704|173100||ighd ii C562704|173100||pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant C537421|114030||cafe au lait spots multiple C537421|114030||multiple cafe au lait spots C538019||chromosome 8 trisomy 8p C538019||duplication 8p C538019||trisomy 8p C567676|613269||corneal dystrophy fuchs endothelial 5 C567676|613269||fcd3 locus C567676|613269||fecd5 C538018||ectodermal dysplasia mental retardation syndactyly C538018||ectodermal dysplasia with mental retardation and syndactyly C538035||chromosome 15 ring C538035||ring 15 chromosome C538035||ring 15 chromosome mosaic pattern C565610||dysmyelination with jaundice C538034||chromosome 14q terminal duplication C538034||duplication 14qter C538034||trisomy 14qter C538033||chromosome 14q terminal deletion C538033||deletion 14qter C538033||monosomy 14qter C538032||chromosome 14q proximal duplication C538032||duplication 14q proximal C538032||trisomy 14q proximal C538039||chromosome 15q tetrasomy C538039||tetrasomy 15q C538038||chromosome 15q partial deletion C538038||deletion 15q1 C538038||deletion 15q25 C538038||monosomy 15q1 C538038||monosomy 15q25 C538037||chromosome 15 trisomy mosaicism C538037||trisomy 15 mosaicism C538037||uniparental disomy of 15 C538036||partial duplication 15q syndrome C538036||chromosome 15 distal trisomy 15q C538036||chromosome 15 trisomy 15q2 C538036||distal duplication 15q C566949||tremor hereditary essential 3 C565618||dk phocomelia syndrome C565618||phocomelia thrombocytopenia encephalocele urogenital malformations C565618||von voss cherstvoy syndrome D005687||galactorrhea D005687||galactorrheas C565619||diverticulosis of bowel hernia and retinal detachment D003027||cluster headache D003027||atypical cluster headache D003027||atypical cluster headaches D003027||cephalgia histamine D003027||cephalgias histamine D003027||chronic cluster headache D003027||chronic cluster headaches D003027||ciliary neuralgia D003027||ciliary neuralgias D003027||cluster headache atypical D003027||cluster headache chronic D003027||cluster headache episodic D003027||cluster headaches D003027||cluster headaches atypical D003027||cluster headaches chronic D003027||cluster headaches episodic D003027||cluster headache syndrome D003027||cluster headache syndromes D003027||episodic cluster headache D003027||episodic cluster headaches D003027||headache atypical cluster D003027||headache chronic cluster D003027||headache cluster D003027||headache episodic cluster D003027||headaches atypical cluster D003027||headaches chronic cluster D003027||headaches cluster D003027||headaches episodic cluster D003027||headache syndrome cluster D003027||headache syndromes cluster D003027||histamine cephalgia D003027||histamine cephalgias D003027||horton apos s syndrome D003027||hortons syndrome D003027||horton syndrome D003027||migraine neuralgic D003027||migraines neuralgic D003027||neuralgia ciliary D003027||neuralgias ciliary D003027||neuralgic migraine D003027||neuralgic migraines D003027||syndrome cluster headache D003027||syndrome horton D003027||syndrome horton apos s D003027||syndromes cluster headache C538031||chromosome 14q partial deletions C538031||deletion 14q11 C538031||deletion 14q31 C538031||monosomy 14q11 C538031||monosomy 14q31 C565614||dwarfism proportionate with hip dislocation C538030||chromosome 9 trisomy 9q C538030||duplication 9q C538030||trisomy 9q D005683||gagging D005683||pharyngeal reflex D005683||reflex pharyngeal C565615||dwarfism low birth weight type with unresponsiveness to growth hormone C566948||kallmann syndrome 2 with selective tooth agenesis C565617||dohle bodies and leukemia 610446|D054312||buruli ulcer 610446|D054312||buruli ulcer disease 610446|D054312||buruli ulcer diseases 610446|D054312||buruli ulcer susceptibility to 610446|D054312||disease buruli ulcer 610446|D054312||diseases buruli ulcer 610446|D054312||infection mycobacterium ulcerans 610446|D054312||infections mycobacterium ulcerans 610446|D054312||mycobacterium ulcerans infection 610446|D054312||mycobacterium ulcerans infections 610446|D054312||mycobacterium ulcerans susceptibility to 610446|D054312||ulcer buruli 610446|D054312||ulcer disease buruli 610446|D054312||ulcer diseases buruli D015009||yersinia infections D015009||infections yersinia D015009||infection yersinia D015009||yersinia infection D059545||paraneoplastic syndromes ocular D059545||bilateral diffuse uveal melanocytic proliferation paraneoplastic D059545||cancer associated retinopathies D059545||cancer associated retinopathy D059545||disease ocular paraneoplastic D059545||diseases ocular paraneoplastic D059545||melanocytic proliferation paraneoplastic D059545||melanocytic proliferations paraneoplastic D059545||melanoma associated retinopathies D059545||melanoma associated retinopathy D059545||ocular paraneoplastic disease D059545||ocular paraneoplastic diseases D059545||ocular paraneoplastic syndrome D059545||ocular paraneoplastic syndromes D059545||paraneoplastic disease ocular D059545||paraneoplastic diseases ocular D059545||paraneoplastic melanocytic proliferation D059545||paraneoplastic melanocytic proliferations D059545||paraneoplastic syndrome ocular D059545||retinopathies cancer associated D059545||retinopathies melanoma associated D059545||retinopathy cancer associated D059545||retinopathy melanoma associated D059545||syndrome ocular paraneoplastic D059545||syndromes ocular paraneoplastic D031954||choriocarcinoma non gestational D031954||choriocarcinomas non gestational D031954||non gestational choriocarcinoma D031954||non gestational choriocarcinomas D020165|237300||carbamoyl phosphate synthase i deficiency disease D020165|237300||carbamoyl phosphate synthase ammonia deficiency disease D020165|237300||carbamoyl phosphate synthase i deficiency disease ornithine carbamoyl phosphate deficiency D020165|237300||carbamoyl phosphate synthetase i deficiency D020165|237300||carbamoylphosphate synthetase i deficiency disease D020165|237300||carbamoyl phosphate synthetase i deficiency disease D020165|237300||carbamoyl phosphate synthetase i deficiency hyperammonemia due to D020165|237300||carbamyl phosphate synthetase cps deficiency D020165|237300||carbamyl phosphate synthetase deficiency disease D020165|237300||carbamyl phosphate synthetase i deficiency disease D020165|237300||cps 1 deficiencies D020165|237300||cps 1 deficiency D020165|237300||cps i deficiencies D020165|237300||cps i deficiency D020165|237300||deficiencies cps 1 D020165|237300||deficiencies cps i D020165|237300||deficiency cps 1 D020165|237300||deficiency cps i D020165|237300||deficiency disease carbamoyl phosphate synthase D020165|237300||deficiency disease carbamoyl phosphate synthase ammonia D020165|237300||deficiency disease carbamoylphosphate synthetase i D020165|237300||deficiency disease carbamyl phosphate synthetase D020165|237300||hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency D015001||yaws D015001||frambesia D015001||frambesias D015001||frambesia tropica D015001||frambesia tropicas C538029||chromosome 9 trisomy 9p D015004||yellow fever D015004||fevers yellow D015004||fever yellow D015004||yellow fevers C566911||renal tubular acidosis distal with normal red cell morphology D006030|233100||glycosuria renal D006030|233100||glys1 D006030|233100||renal glucosuria D006030|233100||renal glycosuria 129490|D053359||ectodermal dysplasia 3 anhidrotic 129490|D053359||ectd10a 129490|D053359||ectodermal dysplasia 10a hypohidrotic hair nail type autosomal dominant 129490|D053359||ectodermal dysplasia hypohidrotic autosomal dominant 129490|D053359|224900|D053360||hed C567317|612421||alopecia androgenetic 3 C567317|612421||aga3 614187||hypertelorism preauricular sinus punctal pits and deafness 614187||hppd C563689|609913||retinitis pigmentosa 32 C563689|609913||rp32 D006987||hypesthesia D006987||hypesthesias D006987||hypesthesias tactile D006987||hypesthesias thermal D006987||hypesthesia tactile D006987||hypesthesia thermal D006987||hypoesthesia D006987||hypoesthesias D006987||impaired sensation D006987||impaired sensations D006987||numbness D006987||reduced sensation D006987||reduced sensations D006987||sensation impaired D006987||sensation reduced D006987||sensations impaired D006987||sensations reduced D006987||tactile hypesthesia D006987||tactile hypesthesias D006987||thermal hypesthesia D006987||thermal hypesthesias C566513|602639||tooth agenesis selective 2 C566513|602639||hyd2 C566513|602639||hypodontia oligodontia 2 C566513|602639||sthag2 D006988||hyphema D006988||hyphemas C566918||renal tubular acidosis distal with nephrocalcinosis short stature mental retardation and distinctive facies D006985||hyperventilation D006985||hyperventilations D006986||hypervitaminosis a D004320||dracunculiasis D004320||disease guinea worm D004320||diseases guinea worm D004320||dracunculiases D004320||dracunculoses D004320||dracunculosis D004320||guinea worm disease D004320||guinea worm diseases D004320||guinea worm infection D004320||infection guinea worm D004320||worm disease guinea C566912|611588||muscular dystrophy limb girdle type 2m C566912|611588||lgmd2m D006983||hypertrichosis D006983||hypertrichoses D006984||hypertrophy D006984||hypertrophies D046248||pyloric stenosis hypertrophic D046248||hypertrophic pyloric stenosis D046248||stenosis hypertrophic pyloric D006981||hyperthyroxinemia D006981||hyperthyroxinemias D060545||pudendal neuralgia D060545||entrapment pudendal nerve D060545||entrapments pudendal nerve D060545||nerve entrapment pudendal D060545||nerve entrapments pudendal D060545||neuralgia pudendal D060545||neuralgias pudendal D060545||neuropathies pudendal D060545||neuropathy pudendal D060545||pudendal canal entrapment syndrome D060545||pudendal nerve entrapment D060545||pudendal nerve entrapments D060545||pudendal nerve entrapment syndrome D060545||pudendal neuralgias D060545||pudendal neuropathies D060545||pudendal neuropathy 613545|D008265||macrostomia 613545|D008265||commissural cleft isolated 613545|D008265||lateral cleft isolated 613545|D008265||macrostomia isolated 613545|D008265||macrostomias 613545|D008265||transverse cleft isolated D005660||funnel chest D005660||chest funnel D005660||chests funnel D005660||excavatum pectus D005660||funnel chests D005660||pectus excavatum D058226||plaque atherosclerotic D058226||arterial fatty streak D058226||arterial fatty streaks D058226||atheroma D058226||atheromas D058226||atheromatous plaques D058226||atherosclerotic plaque D058226||atherosclerotic plaques D058226||fatty streak arterial D058226||fatty streaks arterial D058226||fibroatheroma D058226||fibroatheromas D058226||fibroatheromatous plaque D058226||fibroatheromatous plaques D058226||plaque fibroatheromatous D058226||plaques atherosclerotic D058226||plaques fibroatheromatous D058226||streak arterial fatty D058226||streaks arterial fatty C565532|233700||granulomatous disease chronic autosomal recessive cytochrome b positive type i C565532|233700||cgd autosomal recessive cytochrome b positive type i C565532|233700||granulomatous disease chronic due to ncf1 deficiency C565532|233700||ncf1 deficiency of C565532|233700||neutrophil cytosol factor 1 deficiency of C565532|233700||p47 phox deficiency of C565532|233700||soc2 deficiency of C565532|233700||soluble oxidase component ii deficiency of D058225||plaque amyloid D058225||amyloid deposit D058225||amyloid deposits D058225||amyloid plaque D058225||amyloid plaques D058225||deposit amyloid D058225||deposits amyloid D058225||neuritic plaque D058225||neuritic plaques D058225||plaque neuritic D058225||plaques amyloid D058225||plaque senile D058225||plaques neuritic D058225||plaques senile D058225||senile plaque D058225||senile plaques C537525|269500||sclerosteosis C537525|269500||cortical hyperostosis with syndactyly C537525|269500||sclerosteosis 1 C537525|269500||sost C537525|269500||sost1 D031941||hemorrhagic septicemia viral D031941||haemorrhagic septicaemia viral D031941||septicaemia viral haemorrhagic D031941||septicemia viral hemorrhagic D031941||viral haemorrhagic septicaemia D031941||viral hemorrhagic septicemia C535303|302802||charcot marie tooth disease x linked recessive 3 C535303|302802||charcot marie tooth neuropathy x linked recessive 3 C535303|302802||cmtx3 D016301||alveolar bone loss D016301||alveolar bone atrophies D016301||alveolar bone atrophy D016301||alveolar bone losses D016301||alveolar process atrophies D016301||alveolar process atrophy D016301||alveolar resorption D016301||alveolar resorptions D016301||bone atrophies alveolar D016301||bone atrophy alveolar D016301||bone loss alveolar D016301||bone losses periodontal D016301||bone loss periodontal D016301||periodontal bone loss D016301||periodontal bone losses D016301||periodontal resorption D016301||periodontal resorptions D016301||resorption alveolar D016301||resorption periodontal D016301||resorptions alveolar D018981||congenital disorders of glycosylation D018981||carbohydrate deficient glycoprotein syndrome D018981||carbohydrate deficient glycoprotein syndromes D018981||glycoprotein syndrome carbohydrate deficient D018981||syndrome carbohydrate deficient glycoprotein D018981||syndromes carbohydrate deficient glycoprotein C564972|255125||myopathy with lactic acidosis hereditary C564972|255125||hereditary myopathy with lactic acidosis C564972|255125||hml C564972|255125||iron sulfur cluster deficiency myopathy C564972|255125||myoglobinuria due to abnormal glycolysis C564972|255125||myopathy with deficiency of iron sulfur cluster assembly enzyme C564972|255125||myopathy with deficiency of iscu C564972|255125||myopathy with deficiency of succinate dehydrogenase and aconitase C564972|255125||myopathy with exercise intolerance swedish type 304100|C564115||corpus callosum partial agenesis of x linked D003003||clonorchiasis D003003||clonorchiases D006998||hypochondriasis D006998||hypochondriacal neuroses D006998||hypochondriacal neurosis D006998||neurosis hypochondriacal D006996||hypocalcemia D006996||hypocalcemias D005667||furunculosis D005667||boils D005667||furuncle D005667||furuncles D005667||furunculoses D006994||hypoaldosteronism D006994||acidosis renal tubular type iv D006994||hypoaldosteronism hyporeninemic D006994||hyporeninemic hypoaldosteronism D006994||renal tubular acidosis type iv D006994||type iv renal tubular acidosis C563681|610333||aicardi goutieres syndrome 4 C563681|610333||ags4 D006995||hypobetalipoproteinemias D006995|D052476||familial hypobetalipoproteinemia D006995||hypobetalipoproteinemia D006995||hypo beta lipoproteinemia D006995||hypo beta lipoproteinemias D004332||drowning D004332||drownings C538398|609273||nemaline myopathy 6 C538398|609273||nem6 C535579|115150||cardiofaciocutaneous syndrome C535579|115150||cardio facio cutaneous syndrome C535579|115150||cardiofaciocutaneous syndrome 1 C535579|115150||cfc1 C535579|115150||cfcs C535579|115150||cfc syndrome D005671||fused teeth D005671||double tooth D005671||double tooths D005671||fused mandibular incisor D005671||fused mandibular incisors D005671||incisor fused mandibular D005671||incisors fused mandibular D005671||mandibular incisor fused D005671||mandibular incisors fused D005671||teeth fused D005671||tooth double D005671||tooths double 602197||cerebellar degeneration related autoantigen 3 602197||cdr3 C536865|182601||spastic paraplegia 4 autosomal dominant C536865|182601||autosomal dominant spastic paraplegia 4 C536865|182601||familial spastic paraplegia autosomal dominant 2 C536865|182601||fsp2 C536865|182601||spg4 C567365|612284||meckel syndrome type 6 C567365|612284||mks6 C563457|600674||microtia anotia C536662|264470||peroxisomal acyl coa oxidase deficiency C536662|264470||pseudoneonatal adrenoleukodystrophy C536662|264470||straight chain acyl coa oxidase deficiency 224900|D053360||ectodermal dysplasia hypohidrotic autosomal recessive 224900|D053360||anhidridic ectodermal dysplasia autosomal recessive 224900|D053360||anhidrotic ectodermal dysplasia autosomal recessive 224900|D053360||anhydridic ectodermal dysplasia autosomal recessive 224900|D053360||autosomal recessive anhidrotic ectodermal dysplasia 224900|D053360||autosomal recessive anhydrotic ectodermal dysplasia 224900|D053360||ectd10b 224900|D053360||ectodermal dysplasia 10b hypohidrotic hair tooth type autosomal recessive 224900|D053360||ectodermal dysplasia anhidrotic autosomal recessive 224900|D053360||ectodermal dysplasia hypohidrotic 224900|D053360||ectodermal dysplasia hypohydrotic autosomal recessive 224900|D053360|305100|D053358||eda D006969||hypersensitivity immediate D006969||atopic hypersensitivities D006969||atopic hypersensitivity D006969||hypersensitivities atopic D006969||hypersensitivities ige mediated D006969||hypersensitivities immediate D006969||hypersensitivities type i D006969||hypersensitivity atopic D006969||hypersensitivity ige mediated D006969||hypersensitivity type i D006969||ige mediated hypersensitivities D006969||ige mediated hypersensitivity D006969||immediate hypersensitivities D006969||immediate hypersensitivity D006969||type i hypersensitivities D006969||type i hypersensitivity 612562|C567254||diamond blackfan anemia 7 612562|C567254||dba7 D006967||hypersensitivity D006967||allergic reaction D006967||allergic reactions D006967||allergies D006967||allergy D006967||hypersensitivities D006967||reaction allergic D006967||reactions allergic D006968||hypersensitivity delayed D006968||delayed hypersensitivities D006968||delayed hypersensitivity D006968||hypersensitivities delayed D006968||hypersensitivities tuberculin type D006968||hypersensitivities type iv D006968||hypersensitivity tuberculin type D006968||hypersensitivity type iv D006968||tuberculin type hypersensitivities D006968||tuberculin type hypersensitivity D006968||type iv hypersensitivities D006968||type iv hypersensitivity 614166||myopia 20 autosomal dominant 614166||myp20 D006965||hyperplasia D006965||hyperplasias D006966||hyperprolactinemia D006966||hyperprolactinaemia D006966||hyperprolactinemias D006966||hypersecretion syndrome prolactin D006966||inappropriate prolactin secretion D006966||inappropriate prolactin secretion syndrome D006966||inappropriate secretion prolactin D006966||prolactin hypersecretion syndrome D006966||prolactin inappropriate secretion D006966||prolactin secretion inappropriate D006966||secretion inappropriate prolactin D006966||secretion prolactin inappropriate D006966||syndrome prolactin hypersecretion D006963||hyperphagia D006963||overeating C540309||abetalipoproteinemia neuropathy D006964||hyperpituitarism D006964||follicle stimulating hormone inappropriate secretion D006964||fsh hypersecretion pituitary D006964||hypersecretion pituitary fsh D006964||hypersecretion pituitary lh D006964||hypersecretion pituitary tsh D006964||inappropriate follicle stimulating hormone secretion D006964||inappropriate fsh secretion syndrome D006964||inappropriate lh secretion syndrome D006964||inappropriate luteinizing hormone secretion D006964||inappropriate thyroid stimulating hormone secretion D006964||inappropriate tsh secretion syndrome D006964||lh hypersecretion pituitary D006964||luteinizing hormone inappropriate secretion D006964||pituitary fsh hypersecretion D006964||pituitary lh hypersecretion D006964||pituitary tsh hypersecretion D006964||thyroid stimulating hormone inappropriate secretion D006964||tsh hypersecretion pituitary D006961||hyperparathyroidism D006962||hyperparathyroidism secondary D006962||hyperparathyroidisms secondary D006962||secondary hyperparathyroidism D006962||secondary hyperparathyroidisms D006960||hyperoxaluria primary D006960||hyperoxalurias primary D006960||oxaloses primary D006960||oxalosis primary D006960||oxaluria primary D006960||oxalurias primary D006960||primary hyperoxaluria D006960||primary hyperoxalurias D006960||primary oxaloses D006960||primary oxalosis D006960||primary oxaluria D006960||primary oxalurias 107970|C566254||arrhythmogenic right ventricular dysplasia familial 1 107970|C566254||arrhythmogenic right ventricular cardiomyopathy 1 107970|C566254||arrhythmogenic right ventricular cardiomyopathy 1 arvc1 uhl anomaly included 107970|C566254||arvd1 107970|C566254||cardiomyopathy right ventricular dilated included D058246||prehypertension D058246||pre hypertension D058246||prehypertensions D058246||pre hypertensions C567735|613119||brugada syndrome 6 C567735|613119||brgda6 277400|C537359||methylmalonic acidemia with homocystinuria 277400|C537359||cobalamin c methylmalonic acidemia and homocystinuria 277400|C537359||methylmalonic acidemia and homocystinemia 277400|C537359||methylmalonic acidemia and homocystinuria cblc type 277400|C537359||methylmalonic aciduria and homocystinuria cblc type 277400|C537359||methylmalonic aciduria and homocystinuria vitamin b12 responsive 277400|C537359||vitamin b12 metabolic defect with combined deficiency of methylmalonyl coa mutase and homocysteine methyltetrahydrofolate methyltransferase 193400|D056725||von willebrand disease type 1 193400|D056725||type 1 von willebrand disease 193400|D056725||type i von willebrand disease 193400|D056725||von willebrand disease type i 193400|D056725||vwd1 193400|D056725||vwd type 1 C567594|300580||myopathy congenital with fiber type disproportion x linked C567594|300580||cftdx 149400|C538136||hyperexplexia hereditary 149400|C538136|184850|D016750||congenital stiff person syndrome 149400|C538136||exagerrated startle reflex 149400|C538136||exaggerated startle reaction 149400|C538136||familial startle disease 149400|C538136||hkpx1 149400|C538136||hyperekplexia hereditary 1 149400|C538136||kok disease 149400|C538136||startle disease familial 149400|C538136||startle reaction exaggerated 149400|C538136||sthe 149400|C538136|184850|D016750||stiff baby syndrome 149400|C538136||stiff man syndrome congenital 149400|C538136||stiff person syndrome congenital D006978||hypertension renovascular D006978||goldblatt hypertension D006978||goldblatt syndrome D006978||hypertension goldblatt D006978||renovascular hypertension D006978||syndrome goldblatt D004313||dourine D004313||dourines C566906|C563661|610805||cakut C566906||congenital anomalies of kidney and urinary tract D006977||hypertension renal D006977||hypertensions renal D006977||renal hypertension D006977||renal hypertensions C565788|604352||febrile convulsions familial 4 C565788|604352||convulsions familial febrile 4 C565788|604352||feb4 C565788|604352||febrile seizures familial 4 C565788|604352||seizures familial febrile 4 D006974||hypertension malignant D006974||malignant hypertension D006975||hypertension portal D006975||cruveilhier baumgarten syndrome D006975||hypertensions portal D006975||portal hypertension D006975||portal hypertensions D006975||syndrome cruveilhier baumgarten D006972||hypertelorism D006972||hypertelorisms D006973||hypertension D006973||blood pressure high D006973||blood pressures high D006973||high blood pressure D006973||high blood pressures C566903|611630||epilepsy familial mesial temporal lobe D005642||fuchs apos endothelial dystrophy D005642||dystrophy fuch apos s endothelial D005642||dystrophy fuchs apos endothelial D005642||endothelial dystrophy fuch apos s D005642||endothelial dystrophy fuchs apos D005642||fuch endothelial dystrophy D005642||fuchs atrophy D005642||fuchs corneal dystrophy D005642||fuchs dystrophy D005642||fuchs endothelial corneal dystrophy D005642||fuch apos s endothelial dystrophy D005642||fuchs endothelial dystrophy D006970||disorders of excessive somnolence D006970||does disorders of excessive somnolence D006970||doess disorders of excessive somnolence D006970||excessive somnolence disorder D006970||excessive somnolence disorders D006970||hypersomnia D006970||hypersomnia recurrent D006970||hypersomnias D006970||hypersomnias recurrent D006970||hypersomnolence D006970||hypersomnolence disorder D006970||hypersomnolence disorder primary D006970||hypersomnolence disorders D006970||hypersomnolence disorder secondary D006970||hypersomnolence disorders primary D006970||hypersomnolence disorders secondary D006970||primary hypersomnolence disorder D006970||primary hypersomnolence disorders D006970||recurrent hypersomnia D006970||recurrent hypersomnias D006970||secondary hypersomnolence disorder D006970||secondary hypersomnolence disorders D006970||somnolence disorder excessive D006970||somnolence disorders excessive D004310||double outlet right ventricle D004310||anomaly taussig bing D004310||double outlet right ventricle noncommitted vsd D004310||double outlet right ventricle subaortic vsd D004310||double outlet right ventricle subpulmonary vsd D004310||taussig bing anomaly C566904||preauricular tag isolated autosomal dominant 1 D006971||hypersplenism D006971||anemia splenic D006971||anemias splenic D006971||splenic anemia D006971||splenic anemias D006980||hyperthyroidism D006980||hyperthyroidism primary D006980||primary hyperthyroidism D006980||primary hyperthyroidisms C565545|231900||glutathione synthetase deficiency of erythrocytes hemolytic anemia due to C565545|231900||gssde D058252||necrobiotic xanthogranuloma D058252||necrobiotic xanthogranulomas D058252||xanthogranuloma necrobiotic D058252||xanthogranulomas necrobiotic C536637|269250||schneckenbecken dysplasia C536637|269250||chondrodysplasia lethal neonatal with snail like pelvis D017622||periodontal attachment loss D017622||attachment loss periodontal D017622||loss periodontal attachment D004409||dyskinesia drug induced D004409||drug induced dyskinesia D004409||drug induced dyskinesias D004409||dyskinesia medication induced D004409||dyskinesias drug induced D004409||dyskinesias medication induced D004409||medication induced dyskinesia D004409||medication induced dyskinesias D004408||dysgeusia D004408||altered taste D004408||distorted taste D004408||dysgeusias D004408||parageusia D004408||parageusias D004408||taste altered D004408||taste distorted D005739||gas poisoning D005739||gas poisonings D005739||poisoning gas D005739||poisonings gas D004405||dysentery bacillary D004405||bacillary dysentery D004405||boydii dysenteries shigella D004405||boydii dysentery shigella D004405||dysenteriae dysenteries shigella D004405||dysenteriae dysentery shigella D004405||dysenteries shigella D004405||dysenteries shigella boydii D004405||dysenteries shigella dysenteriae D004405||dysenteries shigella flexneri D004405||dysenteries shigella sonnei D004405||dysentery shiga bacillus D004405||dysentery shigella D004405||dysentery shigella boydii D004405||dysentery shigella dysenteriae D004405||dysentery shigella dysenteriae type 1 D004405||dysentery shigella flexneri D004405||dysentery shigella sonnei D004405||flexneri dysenteries shigella D004405||flexneri dysentery shigella D004405||shiga bacillus dysentery D004405||shigella boydii dysenteries D004405||shigella boydii dysentery D004405||shigella dysenteriae dysenteries D004405||shigella dysenteriae dysentery D004405||shigella dysenteries D004405||shigella dysentery D004405||shigella flexneri dysenteries D004405||shigella flexneri dysentery D004405||shigella sonnei dysenteries D004405||shigella sonnei dysentery D004405||shigellosis D004405||sonnei dysenteries shigella D004405||sonnei dysentery shigella D005736||gardner syndrome D005736||gardner apos s syndrome D005736||gardners syndrome D005736||gardner apos s syndromes D005736||gardner syndromes D005736||syndrome gardner D005736||syndrome gardner apos s D005736||syndromes gardner D005736||syndromes gardner apos s D004404||dysentery amebic D004404||amebiases intestinal D004404||amebiasis intestinal D004404||amebic colitides D004404||amebic colitis D004404||amebic dysenteries D004404||amebic dysentery D004404||amoebiases intestinal D004404||amoebiasis intestinal D004404||amoebic colitides D004404||amoebic colitis D004404||amoebic dysenteries D004404||amoebic dysentery D004404||colitides amebic D004404||colitides amoebic D004404||colitis amebic D004404||colitis amoebic D004404||dysenteries amebic D004404||dysenteries amoebic D004404||dysentery amoebic D004404||entamoebiases intestinal D004404||entamoebiasis intestinal D004404||intestinal amebiases D004404||intestinal amebiasis D004404||intestinal amoebiases D004404||intestinal amoebiasis D004404||intestinal entamoebiases D004404||intestinal entamoebiasis D004407||dysgerminoma D004407||disgerminoma D004407||disgerminomas D004407||dysgerminomas D005738||gas gangrene D005738||gangrene gas D005738||gangrenes gas D005738||gas gangrenes D004406||dysgammaglobulinemia D004406||dysgammaglobulinemias 255300|D009224||myotonia congenita 255300|D009224||batten turner congenital myopathy 255300|D009224||becker disease 255300|D009224||becker generalized myotonia 255300|D009224||congenital myotonia 255300|D009224||disease becker 255300|D009224||disease thomsen 255300|D009224||disease thomsens 255300|D009224||disease thomsen apos s 255300|D009224||generalized myotonia 255300|D009224||generalized myotonia becker 255300|D009224||generalized myotonia of becker 255300|D009224||generalized myotonia of thomsen 255300|D009224||generalized myotonias 255300|D009224||myopathy congenital 255300|D009224||myotonia becker generalized 255300|D009224||myotonia congenita autosomal recessive 255300|D009224||myotonia generalized 255300|D009224||myotonia generalized becker 255300|D009224||myotonia levior 255300|D009224||myotonias generalized 255300|D009224||thomsen disease 255300|D009224||thomsen generalized myotonia 255300|D009224||thomsen apos s disease 255300|D009224||thomsens disease D004401||dysarthria D004401||dysarthoses D004401||dysarthosis D004401||dysarthria flaccid D004401||dysarthria guttural D004401||dysarthria mixed D004401||dysarthrias D004401||dysarthria scanning D004401||dysarthrias flaccid D004401||dysarthrias guttural D004401||dysarthrias mixed D004401||dysarthria spastic D004401||dysarthrias scanning D004401||dysarthrias spastic D004401||flaccid dysarthria D004401||flaccid dysarthrias D004401||guttural dysarthria D004401||guttural dysarthrias D004401||mixed dysarthria D004401||mixed dysarthrias D004401||scanning dysarthria D004401||scanning dysarthrias D004401||spastic dysarthria D004401||spastic dysarthrias C565214|610244||spastic paraplegia 33 autosomal dominant C565214|610244||spg33 D004403||dysentery D004403||diarrheal disease infectious D004403||infectious diarrheal disease D004403||infectious diarrheal diseases D005734||gangrene D005734||gangrenes D005733||gangliosidoses D005733||ganglioside storage disease D005733||ganglioside storage diseases D005733||ganglioside storage disorder D005733||ganglioside storage disorders D005733||gangliosidosis D005733||storage disease ganglioside D005733||storage diseases ganglioside D005733||storage disorder ganglioside D005733||storage disorders ganglioside D060467||disease resistance D060467||disease resistances D060467||resistance disease D060467||resistances disease D017719||diabetic foot D017719||diabetic feet D017719||feet diabetic D017719||foot diabetic D017719||foot ulcer diabetic D017714||community acquired infections D017714||community acquired infection D017714||infection community acquired D017714||infections community acquired C545036|308990||low molecular weight proteinuria with hypercalciuria and nephrocalcinosis C545036|308990||proteinuria low molecular weight with hypercalciuria and nephrocalcinosis C536351|228100||visceral steatosis congenital C536351|228100||fatal neonatal hepatic steatosis C536351|228100||fatty liver disease congenital C536351|228100||fatty metamorphosis of viscera C536351|228100|D005234||steatosis of liver C536351|228100||white liver disease D016532|309900||mucopolysaccharidosis ii D016532|309900||deficiency i2s D016532|309900||deficiency iduronate 2 sulfatase D016532|309900||deficiency iduronate sulfatase D016532|309900||deficiency sulfoiduronate sulfatase D016532|309900||gargoylism hunter syndrome D016532|309900||hunter apos s syndrome D016532|309900||hunters syndrome D016532|309900||hunter syndrome D016532|309900||hunter syndrome gargoylism D016532|309900||i2s deficiency D016532|309900||ids deficiency D016532|309900||iduronate 2 sulfatase deficiency D016532|309900||iduronate sulfatase deficiency D016532|309900||mps2 D016532|309900||mps ii D016532|309900||mucopolysaccharidosis 2 D016532|309900||mucopolysaccharidosis type 2 D016532|309900||mucopolysaccharidosis type ii D016532|309900||sids deficiency D016532|309900||sulfoiduronate sulfatase deficiency D016532|309900||syndrome hunter D016532|309900||syndrome hunter apos s D004416||dysplastic nevus syndrome D004416|155600||b k mole syndrome D004416||dysplastic nevi D004416||dysplastic nevus D004416||familial atypical multiple mole melanoma D004416||nevi dysplastic D004416||nevus dysplastic D004416||nevus syndrome dysplastic D004416||syndrome b k mole D004416||syndrome dysplastic nevus D005747||gastric fistula D005747||fistula gastric D005747||fistula stomach D005747||stomach fistula D004415||dyspepsia D004415||dyspepsias D004415||indigestion D004415||indigestions D004418||dyspnea paroxysmal D004418||asthma cardiac D004418||dyspnea paroxysmal nocturnal D004418||dyspneas paroxysmal D004418||paroxysmal dyspnea D004418||paroxysmal dyspneas D004417||dyspnea D004417||breath shortness D004417||breath shortnesses D004417||dyspneas D004417||shortness of breath D004412||dysmenorrhea D004412||dysmenorrheas D004412||menstrual pain D004412||menstrual pains D004412||menstruation painful D004412||menstruations painful D004412||painful menstruation D004412||painful menstruations D004412||pain menstrual D004412||pains menstrual D004411||dyslexia acquired D004411||acquired alexia D004411||acquired dyslexia D004411||acquired global dyslexia D004411||acquired reading disabilities D004411||acquired reading disability D004411||acquired spelling dyslexia D004411||acquired word blindness D004411||acquired word blindnesses D004411||alexia acquired D004411||blindness acquired word D004411||blindnesses acquired word D004411||disabilities acquired reading D004411||disability acquired reading D004411||dyslexia acquired global D004411||dyslexia acquired spelling D004411||global dyslexia acquired D004411||reading disabilities acquired D004411||reading disability acquired D004411||spelling dyslexia acquired D004411||word blindness acquired D004411||word blindnesses acquired D004414||dyspareunia D004413||dysostoses D004413||dysostosis C567572|600638||fibrosis of extraocular muscles congenital 3a with or without extraocular involvement C567572|600638||cfeom3a C567572|600638||feom3 locus 277000|C537371||mayer rokitansky kuster hauser syndrome 277000||congenital absence of uterus and vagina cauv urogenital adysplasia included 277000|C537371||mrk anomaly 277000|C537371||mrkh anomaly 277000|C537371||mrkh syndrome 277000|C537371||mullerian aplasia dysgenesis 277000|C537371||uterus bipartitus solidus rudimentarius cum vagina solida 277000|C537371||von mayer rokitansky kuster anomaly C536920|275210||tight skin contracture syndrome lethal C536920|275210||fetal hypokinesia sequence due to restrictive dermopathy C536920|275210||hyperkeratosis contracture syndrome C536920|275210||restrictive dermopathy lethal D005359|174800||fibrous dysplasia polyostotic D005359|174800||albright mccune sternberg syndrome D005359|174800||albright apos s disease D005359|174800||albright apos s disease of bone D005359|174800||albright apos s syndrome D005359|174800||albright apos s syndrome with precocious puberty D005359|174800||albright sternberg syndrome D005359|174800||albright syndrome D005359|174800||albright syndrome polyostotic fibrous dysplasia included D005359|174800||dysplasia polyostotic fibrous D005359|174800||dysplasias polyostotic fibrous D005359|174800||fibrous dysplasias polyostotic D005359|174800||fibrous dysplasia with pigmentary skin changes and precocious puberty D005359|174800||mas D005359|174800||mccune albright syndrome D005359|174800||pfd included D005359|174800||pofd included D005359|174800||polyostotic fibrous dysplasia D005359|174800||polyostotic fibrous dysplasias D005359|174800||syndrome albright D005359|174800||syndrome albright apos s D005359|174800||syndrome mccune albright C537342|147250||single upper central incisor C537342|147250||fused incisors C537342|147250||incisors fused C537342|147250||single central maxillary incisor C537342|147250||single central maxillary incisor solitary median maxillary central incisor syndrome included C537342|147250||smmci C537342|147250||smmci syndrome C537342|147250||smmci syndrome included C537342|147250||solitary median maxillary central incisor C537342|147250||solitary median maxillary central incisor syndrome D017726||cytomegalovirus retinitis D017726||cytomegaloviral retinitis D017726||retinitis cytomegaloviral D017726||retinitis cytomegalovirus D017728||lymphoma large cell anaplastic D017728||anaplastic large cell lymphoma D017728||anaplastic large cell lymphomas D017728||cd30 anaplastic large cell lymphoma D017728||cd30 positive anaplastic large cell lymphoma D017728||ki 1 lymphoma D017728||ki 1 lymphomas D017728||large cell lymphoma anaplastic D017728||large cell lymphomas anaplastic D017728||lymphoma anaplastic large cell D017728||lymphoma ki 1 D017728||lymphoma large cell ki 1 D017728||lymphomas anaplastic large cell D017728||lymphomas ki 1 D017728||systemic anaplastic large cell lymphoma C536835|266130||glutathione synthetase deficiency C536835|266130||5 oxoprolinemia C536835|266130||5 oxoprolinuria C536835|266130||deficiency of glutathione synthase C536835|266130||deficiency of glutathione synthetase C536835|266130||gssd C536835|266130||pyroglutamic acidemia C536835|266130||pyroglutamic aciduria D017241|540000||melas syndrome D017241|540000||melas D017241|540000||mitochondrial encephalomyopathy lactic acidosis and stroke like episodes D017241|540000||mitochondrial myopathy encephalopathy lactic acidosis and stroke like episodes D017241|540000||mitochondrial myopathy lactic acidosis stroke like episode D017241|540000||myopathy mitochondrial encephalopathy lactic acidosis stroke D017241|540000||syndrome melas D005715||gambling D005715||gambling pathologic D005715||gambling pathological D005715||gamblings D005715||gamblings pathological D005715||pathological gambling D005715||pathological gamblings C537724|309520||lujan fryns syndrome C537724|309520||lujan syndrome C537724|309520||marfanoid habitus mild general hypotonia hypernasal voice normal testicular size and distinct craniofacial anomalies C537724|309520||mental retardation x linked with marfanoid habitus C537724|309520||x linked intellectual deficit with marfanoid habitus C537724|309520||x linked mental retardation with marfanoid habitus C537724|309520||xlmr with marfanoid features D060487||alternariosis D060487||alternarioses D060487||alternarioses cutaneous D060487||alternarioses dermal D060487||alternarioses subcutaneous D060487||alternariosis cutaneous D060487||alternariosis dermal D060487||alternariosis subcutaneous D060487||cutaneous alternarioses D060487||cutaneous alternariosis D060487||dermal alternarioses D060487||dermal alternariosis D060487||subcutaneous alternarioses D060487||subcutaneous alternariosis D060486||ophthalmoplegic migraine D060486||migraine ophthalmoplegic D060486||migraines ophthalmoplegic D060486||migraine syndrome ophthalmoplegic D060486||migraine syndromes ophthalmoplegic D060486||ophthalmoplegic migraines D060486||ophthalmoplegic migraine syndrome D060486||ophthalmoplegic migraine syndromes D060486||syndrome ophthalmoplegic migraine D060486||syndromes ophthalmoplegic migraine D058165||22q11 deletion syndrome D058165||22q11 deletion syndromes D058165||deletion syndrome 22q11 D058165||deletion syndromes 22q11 D058165||syndrome 22q11 deletion D058165||syndromes 22q11 deletion 611891|C567501||aortic aneurysm familial abdominal 3 611891|C567501||aaa3 609572||photoparoxysmal response 2 609572||photoparoxysmal response with or without idiopathic generalized epilepsy 609572||ppr2 248390|C535707||mandibulofacial dysostosis treacher collins type autosomal recessive 248390|C535707||tcs3 248390|C535707||treacher collins syndrome 3 212500||cataract congenital or juvenile 212500||cataract juvenile hutterite type included C567207|612656||episodic ataxia type 6 C567207|612656||ea6 D005729||ganglioneuroma D005729||gangliocytoma D005729||gangliocytomas D005729||ganglioneuromas C567466|300749||mental retardation and microcephaly with pontine and cerebellar hypoplasia C567466|300749||mental retardation x linked syndromic najm type C567466|300749||micpch C567466|300749||micpch syndrome C567466|300749||mrxsna C567648|613310||exudative vitreoretinopathy 5 C567648|613310||evr5 300555|C564487||dent disease 2 D017703||retropharyngeal abscess D017703||abscesses retropharyngeal D017703||abscess retropharyngeal D017703||retropharyngeal abscesses 609560||mitochondrial dna depletion syndrome 2 myopathic type 609560||mitochondrial dna depletion myopathy tk2 related 609560||mtdps2 D017700||embolism cholesterol D017700||atheroembolism D017700||atheroembolisms D017700||cholesterol embolism D017700||cholesterol embolisms D017700||embolisms cholesterol 176430||premature chromatid separation trait 176430||pcs 176430||total premature chromatid separation trait C538514|269160||familial schizencephaly C538514|269160|D054220||schizencephaly 301201|C537412||amelogenesis imperfecta hypoplastic hypomaturation x linked 2 301201||aih3 formerly 301201||amelogenesis imperfecta 3 hypoplastic type formerly 301201|C538243|301200||enamel hypoplasia x linked D010291||paresis D010291||brachial pareses D010291||brachial paresis D010291||crural pareses D010291||crural paresis D010291||extremity pareses lower D010291||extremity pareses upper D010291||extremity paresis lower D010291||extremity paresis upper D010291||hemipareses D010291||hemiparesis D010291||lower extremity pareses D010291||lower extremity paresis D010291||monopareses D010291||monoparesis D010291||muscle pareses D010291||muscle paresis D010291||muscular pareses D010291||muscular paresis D010291||pareses D010291||pareses brachial D010291||pareses crural D010291||pareses lower extremity D010291||pareses muscle D010291||pareses muscular D010291||pareses upper extremity D010291||paresis brachial D010291||paresis crural D010291||paresis lower extremity D010291||paresis muscle D010291||paresis muscular D010291||paresis upper extremity D010291||upper extremity pareses D010291||upper extremity paresis 122600||spondylocostal dysostosis 5 autosomal dominant 122600||costovertebral segmentation anomalies polydysspondyly included 122600||scdo5 122600|C565149||spondylocostal dysplasia dominant form 122600|C565149||spondylothoracic dysostosis autosomal dominant C537236|268900||sarcosinemia C537236|268900||hypersarcosinemia C537236|268900||sarcos C537236|268900||sarcosin dehydrogenase complex deficiency of C537236|268900||sarcosine dehydrogenase complex deficiency C537236|268900||sarcosine dehydrogenase complex deficiency of C537236|268900||sard deficiency C537236|268900||sardhd C537236|268900||sardh deficiency D035583||rare diseases D035583||disease orphan D035583||disease rare D035583||diseases orphan D035583||diseases rare D035583||orphan disease D035583||orphan diseases D035583||rare disease D058186||acute kidney injury D058186||acute kidney failure D058186||acute kidney failures D058186||acute kidney injuries D058186||acute kidney insufficiencies D058186||acute kidney insufficiency D058186||acute renal failure D058186||acute renal failures D058186||acute renal injuries D058186||acute renal injury D058186||acute renal insufficiencies D058186||acute renal insufficiency D058186||kidney failure acute D058186||kidney failures acute D058186||kidney injuries acute D058186||kidney injury acute D058186||kidney insufficiencies acute D058186||kidney insufficiency acute D058186||renal failure acute D058186||renal failures acute D058186||renal injuries acute D058186||renal injury acute D058186||renal insufficiencies acute D058186||renal insufficiency acute D010284||paratyphoid fever D010284||fever paratyphoid D010284||fevers paratyphoid D010284||paratyphoid fevers D010283||paratuberculosis D010283||disease johne D010283||disease johne apos s D010283||johne disease D010283||johne apos s disease D010283||johnes disease D010283||paratuberculoses D019294|213700||xanthomatosis cerebrotendinous D019294|213700||bogaert scherer epstein disease van D019294|213700||cerebral cholesterinoses D019294|213700||cerebral cholesterinosis D019294|213700||cerebrotendinous xanthomatoses D019294|213700||cerebrotendinous xanthomatosis D019294|213700||ctx D019294|213700||disease van bogaert scherer epstein D019294|213700||van bogaert scherer epstein disease D019294|213700||xanthomatoses cerebrotendinous C565790|604326||spinocerebellar ataxia 12 C565790|604326||sca12 D005706||gallbladder neoplasms D005706||bladder cancer gall D005706||bladder cancers gall D005706||cancer gallbladder D005706||cancer gall bladder D005706||cancer of gallbladder D005706||cancer of the gallbladder D005706||cancers gallbladder D005706||cancers gall bladder D005706||gallbladder cancer D005706||gall bladder cancer D005706||gallbladder cancers D005706||gall bladder cancers D005706||gallbladder neoplasm D005706||neoplasm gallbladder D005706||neoplasms gallbladder 264600|C535830||pseudovaginal perineoscrotal hypospadias 264600|C535830||5 alpha reductase deficiency 264600|C535830||familial incomplete male pseudohermaphroditism type 2 264600|C535830||male pseudohermaphroditism due to 5 alpha reductase deficiency 264600|C535830||ppsh 264600|C535830||steroid 5 alpha reductase deficiency D005705||gallbladder diseases D005705||bladder disease gall D005705||bladder diseases gall D005705||disease gallbladder D005705||disease gall bladder D005705||diseases gallbladder D005705||diseases gall bladder D005705||gallbladder disease D005705||gall bladder disease D005705||gall bladder diseases 118200|D002607||charcot marie tooth disease 118200|D002607||areflexic dystasia hereditary 118200|D002607||areflexic dystasias hereditary 118200|D002607||atrophies peroneal muscular 118200|D002607||atrophy muscular peroneal 118200|D002607||atrophy peroneal muscular 118200|D002607||charcot marie disease 118200|D002607||charcot marie tooth disease autosomal dominant with focally folded myelin sheaths type 1a 118200|D002607||charcot marie tooth disease autosomal dominant with focally folded myelin sheaths type 1b 118200|D002607||charcot marie tooth disease demyelinating type 1a 118200|D002607||charcot marie tooth disease demyelinating type 1b 118200|D002607||charcot marie tooth disease slow nerve conduction type linked to duffy 118200|D002607||charcot marie tooth disease type 1a 118200|D002607||charcot marie tooth disease type 1b 118200|D002607||charcot marie tooth disease type i 118200|D002607||charcot marie tooth disease type ia 118200|D002607||charcot marie tooth disease type ib 118200|D002607||charcot marie tooth disease type ii 118200|D002607||charcot marie tooth hereditary neuropathy 118200|D002607||charcot marie tooth neuropathy type 1a 118200|D002607||charcot marie tooth neuropathy type 1b 118200|D002607||charcot marie tooth syndrome 118200|D002607||cmt1a 118200|D002607||cmt1b 118200|D002607||dystasia hereditary areflexic 118200|D002607||dystasias hereditary areflexic 118200|D002607||hereditary areflexic dystasia 118200|D002607||hereditary areflexic dystasias 118200|D002607||hereditary motor and sensory neuropathy 1a 118200|D002607||hereditary motor and sensory neuropathy 1b 118200|D002607||hereditary motor and sensory neuropathy i 118200|D002607||hereditary motor and sensory neuropathy ia 118200|D002607||hereditary motor and sensory neuropathy ib 118200|D002607||hereditary motor and sensory neuropathy type i 118200|D002607||hereditary motor and sensory neuropathy type ii 118200|D002607||hereditary neuropathy charcot marie tooth 118200|D002607||hereditary type i motor and sensory neuropathy 118200|D002607||hmn distal type i 118200|D002607||hmsn1 118200|D002607||hmsn1a 118200|D002607||hmsn 1a 118200|D002607||hmsn1b 118200|D002607||hmsn 1b 118200|D002607||hmsn i 118200|D002607||hmsn ia 118200|D002607||hmsn ib 118200|D002607||hmsn ii 118200|D002607||hmsn type i 118200|D002607||hmsn type ii 118200|D002607||muscular atrophies peroneal 118200|D002607||muscular atrophy peroneal 118200|D002607||neuropathy type i hereditary motor and sensory 118200|D002607||neuropathy type ii hereditary motor and sensory 118200|D002607||peroneal muscular atrophies 118200|D002607||peroneal muscular atrophy 118200|D002607||roussy levy disease 118200|D002607||roussy levy hereditary areflexic dystasia 118200|D002607||roussy levy syndrome 118200|D002607||syndrome charcot marie tooth 118200|D002607||syndrome roussy levy 211180|C537081||bowen conradi syndrome 211180|C537081||bowen conradi hutterite syndrome 211180|C537081||bowen hutterite syndrome formerly 211180|C537081||bwcns C537199|608687||spinocerebellar ataxia 20 C537199|608687||chromosome 11q12 duplication syndrome 260 kb C537199|608687||sca20 C537199|608687||spinocerebellar ataxia type 20 C537199|608687||spinocerebellar ataxia with dysphonia C537199|608687||spinocerebellar ataxia with spasmodic cough D057770|228600||hyalinosis systemic D057770|228600||fibromatosis hyalinica multiplex juvenilis D057770|228600||fibromatosis juvenile hyaline D057770|228600||fibromatosis syndrome hyaline D057770|228600||fibromatosis syndromes hyaline D057770|228600||hfs D057770|228600||hyaline fibromatosis juvenile D057770|228600||hyaline fibromatosis syndrome D057770|228600||hyaline fibromatosis syndromes D057770|228600||hyalinoses infantile systemic D057770|228600||hyalinoses juvenile D057770|228600||hyalinoses systemic D057770|228600||hyalinoses systemic juvenile D057770|228600||hyalinosis infantile systemic D057770|228600||hyalinosis juvenile D057770|228600||hyalinosis systemic juvenile D057770|228600||infantile systemic hyalinoses D057770|228600||infantile systemic hyalinosis D057770|228600||juvenile hyaline fibromatoses D057770|228600||juvenile hyaline fibromatosis D057770|228600||juvenile hyalinoses D057770|228600||juvenile hyalinoses systemic D057770|228600||juvenile hyalinosis D057770|228600||juvenile hyalinosis systemic D057770|228600||murray syndrome D057770|228600||puretic syndrome D057770|228600||puretic syndromes D057770|228600||syndrome hyaline fibromatosis D057770|228600||syndrome murray D057770|228600||syndrome puretic D057770|228600||syndromes hyaline fibromatosis D057770|228600||syndromes puretic D057770|228600||systemic hyalinoses D057770|228600||systemic hyalinoses infantile D057770|228600||systemic hyalinosis D057770|228600||systemic hyalinosis infantile D057770|228600||systemic juvenile hyalinoses D057770|228600||systemic juvenile hyalinosis D010292||paresthesia D010292||distal paresthesia D010292||distal paresthesias D010292||dysesthesia D010292||dysesthesias D010292||formication D010292||formications D010292||painful paresthesia D010292||painful paresthesias D010292||paresthesia distal D010292||paresthesia painful D010292||paresthesias D010292||paresthesias distal D010292||paresthesias painful 303800||colorblindness partial deutan series 303800||cbd 303800||dcb 303800||deutan colorblindness 303800||deuteranopia 303800||green colorblindness deuteranomaly included C567707|613206||spastic paraplegia 44 autosomal recessive C567707|613206||spg44 C536962|601005||timothy syndrome C536962|601005||long qt syndrome 8 C536962|601005||long qt syndrome with syndactyly C536962|601005||lqt8 C536962|601005|D005879|137580|C565346|191100||ts C567530|612357||major affective disorder 8 C567530|612357||mafd8 D010267||parapsoriasis D010267||dermatoses digitate D010267||dermatosis digitate D010267||digitate dermatoses D010267||digitate dermatosis D010267||erythroderma maculopapular D010267||erythrodermas maculopapular D010267||maculopapular erythroderma D010267||maculopapular erythrodermas D010267||parakeratosis variegata D010267||parapsoriases D010267||parapsoriasis en plaque D010267||parapsoriasis en plaques C564696|606574||oculocutaneous albinism type iv C564696|606574||albinism oculocutaneous type iv C564696|606574||oca4 105250|C562643||amyloidosis ix 105250|C562643||amyloidosis familial cutaneous lichen 105250|C562643||amyloidosis primary cutaneous 1 105250|C562643||amyloidosis primary localized cutaneous 1 105250|C562643||lichen amyloidosis familial 105250|C562643||pca 105250|C562643||pca1 105250|C562643||plca1 C564653|606852||parkinson disease 10 C564653|606852||aaopd C564653|606852||park10 C564653|606852||parkinson disease age at onset of D010260||paranoid personality disorder D010260||disorder paranoid personality D010260||disorders paranoid personality D010260||paranoid personalities D010260||paranoid personality D010260||paranoid personality disorders D010260||personalities paranoid D010260||personality disorder paranoid D010260||personality disorders paranoid D010260||personality paranoid D010262||paraphilias D010262||deviation sex D010262||deviations sex D010262||paraphilia D010262||sex deviation D010262||sex deviations D011595||psychomotor agitation D011595||agitation psychomotor D011595||akathisia D011595||excitement psychomotor D011595||hyperactivity psychomotor D011595||psychomotor excitement D011595||psychomotor hyperactivity D011595||psychomotor restlessness D011595||restlessness D011595||restlessness psychomotor D010264||paraplegia D010264||ataxic paraplegia D010264||ataxic paraplegias D010264||cerebral paraplegia D010264||cerebral paraplegias D010264||flaccid paraplegia D010264||flaccid paraplegias D010264||paralysis legs D010264||paralysis lower extremities D010264||paralysis lower limbs D010264||paraplegia ataxic D010264||paraplegia cerebral D010264||paraplegia flaccid D010264||paraplegias D010264||paraplegias ataxic D010264||paraplegias cerebral D010264||paraplegias flaccid D010264||paraplegia spastic D010264||paraplegia spinal D010264||paraplegias spastic D010264||paraplegias spinal D010264|312920||spastic paraplegia D010264||spastic paraplegias D010264||spinal paraplegia D010264||spinal paraplegias C536980|227050||transient erythroblastopenia of childhood C536980|227050||erythroblastopenia transient C536980|227050||familial transient erythroblastopenia of childhood C536980|227050||tec D010263||paraphimosis D010263||paraphimoses D011596||psychomotor disorders D011596||developmental psychomotor disorder D011596||developmental psychomotor disorders D011596||impairment psychomotor D011596||impairments psychomotor D011596||psychomotor disorder developmental D011596||psychomotor disorders developmental D011596||psychomotor impairment D011596||psychomotor impairments D010265||paraproteinemias D010265||cell dyscrasia plasma D010265||cell dyscrasias plasma D010265||dyscrasia plasma cell D010265||dyscrasias plasma cell D010265||gammapathies monoclonal D010265||gammapathy monoclonal D010265||gammopathies monoclonal D010265||gammopathy monoclonal D010265||monoclonal gammapathies D010265||monoclonal gammapathy D010265||monoclonal gammopathies D010265||monoclonal gammopathy D010265||paraimmunoglobulinemia D010265||paraimmunoglobulinemias D010265||paraproteinemia D010265||plasma cell dyscrasia D010265||plasma cell dyscrasias C535506|108500||episodic ataxia with nystagmus C535506|108500||acetazolamide responsive episodic ataxia syndrome C535506|108500||acetazolamide responsive hereditary paroxysmal cerebellar ataxia C535506|108500||apca C535506|108500||ataxia episodic with nystagmus C535506|108500||ataxia familial paroxysmal C535506|108500||capa C535506|108500||cerebellar ataxia paroxysmal acetazolamide responsive C535506|108500||cerebellopathy hereditary paroxysmal C535506|108500||ea2 C535506|108500||episodic ataxia nystagmus associated C535506|108500||episodic ataxia type 2 C535506|108500||nystagmus associated episodic ataxia D055948||sarcopenia D055948||sarcopenias D055949||vasa previa D055949||praevias vasa D055949||praevia vasa D055949||previas vasa D055949||previa vasa D055949||vasa praevia D055949||vasa praevias D055949||vasa previas 242500|C538424||harlequin type ichthyosis 242500|C538424||arci4b 242500|C538424||apos harlequin fetus apos 242500|C538424|D017490|242300||harlequin ichthyosis 242500|C538424||hi 242500|C538424||ichthyosis congenita harlequin fetus type 242500|C538424||ichthyosis congenital autosomal recessive 4b 242500|C538424||ichthyosis harlequin type C565238|606324||parkinson disease 7 autosomal recessive early onset C565238|606324||park7 116800|C535342||cataract zonular 116800|C535342|116860|D020786||cam 116800|C535342||cataract 5 multiple types 116800|C535342||cataract lamellar 116800|C535342||cataract marner type 116800|C535342||ctm 116800|C535342||ctrct5 116800|C535342||perinuclear cataract D043963||diverticulosis colonic D043963||colonic diverticulosis C537124|125250||optic atrophy 1 and deafness C537124|125250||doa C537124|125250||dominant optic atrophy plus syndrome C537124|125250||optic atrophy with or without deafness ophthalmoplegia myopathy ataxia and neuropathy D010279||parathyroid diseases D010279||disease parathyroid D010279||diseases parathyroid D010279||disorder parathyroid D010279||disorders parathyroid D010279||parathyroid disease D010279||parathyroid disorder D010279||parathyroid disorders D009298||nasal polyps D009298||nasal polyp D009298||polyp nasal D009298||polyps nasal C563928|608445||speech sound disorder C563928|608445||ssd C563874|608695||glaucoma 1 open angle j C563874|608695||glaucoma primary open angle juvenile onset 2 C563874|608695||glc1j C563874|608695||joag2 D010273||parasitic diseases animal D010273||animal parasitic disease D010273||animal parasitic diseases D010273||disease animal parasitic D010273||diseases animal parasitic D010273||parasitic disease animal D010272||parasitic diseases D010272||disease parasitic D010272||diseases parasitic D010272||parasitic disease C566395|603266||diabetes mellitus insulin dependent 17 C566395|603266||iddm17 C566395|603266||insulin dependent diabetes mellitus 17 C565211|610248||deafness autosomal recessive 65 C565211|610248||dfnb65 C535890||levator syndrome C535890||levator ani spasm syndrome C535890||levator ani syndrome D055958||piriformis muscle syndrome D055958||muscle syndrome piriformis D055958||muscle syndromes piriformis D055958||piriformis muscle syndromes D055958||piriformis syndrome D055958||piriformis syndromes D055958||syndrome piriformis D055958||syndrome piriformis muscle D055958||syndromes piriformis D055958||syndromes piriformis muscle C565753|604757||craniosynostosis type 2 C565753|604757||craniosynostosis 2 C565753|604757||craniosynostosis boston type C565753|604757||crs2 C565753|604757|D003057|133540||csb C535892||lichen planus follicularis C535892||follicular lichen planus tumidus C535892||lichen planus follicularis tumidus C535892||lichen planus tumidus follicularis D055959||intervertebral disc degeneration D055959||degeneration disc D055959||degeneration disk D055959||degeneration intervertebral disc D055959||degeneration intervertebral disk D055959||degenerations disc D055959||degenerations disk D055959||degenerations intervertebral disc D055959||degenerations intervertebral disk D055959||degenerative intervertebral disc D055959||degenerative intervertebral discs D055959||degenerative intervertebral disk D055959||degenerative intervertebral disks D055959||degradation disc D055959||degradation disk D055959||degradations disc D055959||degradations disk D055959||disc degeneration D055959||disc degeneration intervertebral D055959||disc degenerations D055959||disc degenerations intervertebral D055959||disc degenerative intervertebral D055959||disc degradation D055959||disc degradations D055959||discs degenerative intervertebral D055959||disk degeneration D055959||disk degeneration intervertebral D055959||disk degenerations D055959||disk degenerations intervertebral D055959||disk degenerative intervertebral D055959||disk degradation D055959||disk degradations D055959||disks degenerative intervertebral D055959||intervertebral disc degenerations D055959||intervertebral disc degenerative D055959||intervertebral discs degenerative D055959||intervertebral disk degeneration D055959||intervertebral disk degenerations D055959||intervertebral disk degenerative D055959||intervertebral disks degenerative C535891||familial popliteal pterygium syndrome C535891||lewis pashayan syndrome C535894||lichtenstein syndrome C567421|612096||otosclerosis 8 C567421|612096||otsc8 607080|C567773||46 xy gonadal dysgenesis partial with minifascicular neuropathy D010246||paralysis obstetric D010246||obstetrical paralyses D010246||obstetrical paralysis D010246||obstetric paralyses D010246||obstetric paralysis D010246||paralyses obstetric D010246||paralyses obstetrical D010246||paralysis obstetrical D010245||paralyses familial periodic D010245||familial periodic paralyses D010245||familial periodic paralysis D010245||normokalemic periodic paralyses D010245||normokalemic periodic paralysis D010245||paralyses normokalemic periodic D010245||paralysis familial periodic D010245||paralysis normokalemic periodic D010245||periodic paralyses familial D010245||periodic paralyses normokalemic D010245||periodic paralysis familial D010245||periodic paralysis normokalemic 208000|C537440||arterial calcification of infancy 208000|C537440||arterial calcification generalized of infancy 208000|C537440||arterial calcification generalized of infancy 1 208000|C537440||arterial calcification idiopathic infantile 208000|C537440||arteriopathy occlusive infantile 208000|C537440||arteriopathy occlusive infantile coronary sclerosis medial of infancy included 208000|C537440||gaci 208000|C537440||gaci1 208000|C537440||generalized arterial calcification in infancy 208000|C537440||idiopathic infantile arterial calcification 208000|C537440||iiac 208000|C537440||occlusive infantile arteriopathy D009265||nairobi sheep disease D009265||disease nairobi sheep D009265||sheep disease nairobi D009264||nails malformed D009264||abnormalities nail D009264||abnormality nail D009264||abnormal nail D009264||abnormal nails D009264||malformed nail D009264||malformed nails D009264||nail abnormal D009264||nail abnormalities D009264||nail abnormality D009264||nail malformed D009264||nails abnormal D009264||pachyonychia D009263||nails ingrown D009263||ingrown nail D009263||ingrown nails D009263||nail ingrown D010249||parametritis D010249||cellulitides pelvic D010249||cellulitis pelvic D010249||parametritides D010249||pelvic cellulitides D010249||pelvic cellulitis C536345|192950||vertical talus congenital C536345|192950||cvt C536345|192950||pes valgus congenital convex C536345|192950||rocker bottom foot C567758|613093||cone dystrophy 4 C567758|613093||achm5 included C567758|613093||achromatopsia 5 included C567758|613093||cod4 D055954||corneal endothelial cell loss D055954||corneal endothelial cell damage D055954||endothelial cell loss corneal D009260||nail diseases D009260||disease nail D009260||diseases nail D009260||nail disease C535885||jones hersh yusk syndrome C535885||aplasia cutis cleft palate epidermolysis C535885||aplasia cutis congenita cleft palate epidermolysis bullosa and ectrodactyly C535885||ptosis ectropion thin skin beaked nose D055955||susac syndrome D055955||retinocochleocerebral vasculopathies D055955||retinocochleocerebral vasculopathy D055955||susac apos s syndrome D055955||susacs syndrome D055955||syndrome susac D055955||syndrome susac apos s D055955||vasculopathies retinocochleocerebral D055955||vasculopathy retinocochleocerebral C535884||joint laxity familial C535884||articular hypermobility syndrome C535884||familial joint instability syndrome C535884||joint instability syndrome D055956||diffuse neurofibrillary tangles with calcification D055956||disease kosaka shibayama D055956||kosaka shibayama disease C535886||jones syndrome C535886||fibromatosis gingival progressive deafness C535886||fibromatosis gingival with progressive deafness C535886||gingival fibromatosis with progressive deafness C535886||gingival fibromatosis with sensorineural hearing loss C535889||leukonychia totalis C535889||hereditary white nails C535889||porcelain nails D010241||parakeratosis D010241||parakeratoses C535888||leukoencephalopathy arthritis colitis and hypogammaglobulinemia D055952||cogan syndrome D055952||cogan apos s syndrome D055952||cogans syndrome D055952||syndrome cogan D055952||syndrome cogans D055952||syndrome cogan apos s D055953||microscopic polyangiitis D055953||microscopic polyangiitides D055953||polyangiitides microscopic D055953||polyangiitis microscopic D010243||paralysis D010243||palsies D010243||palsy D010243||paralyses D010243||paralysis todd D010243||paralysis todd apos s D010243||plegia D010243||plegias D010243||todd paralysis D010243||todd apos s paralysis D010243||todds paralysis 193007|C535431||benign paroxysmal positional vertigo 193007|C535431||bppv 193007|C535431||brv 193007|C535431||brv1 included 193007|C535431||brv2 193007|C535431||familial benign recurrent vertigo 193007|C535431||familial vestibulopathy 193007|C535431||vertigo benign paroxysmal positional 193007|C535431|C562859||vertigo benign recurrent 193007|C535431|C567749||vertigo benign recurrent 2 193007|C535431||vestibulopathy familial 193007|C535431||vestibulopathy familial vertigo benign recurrent 1 included C565778|604393||leber congenital amaurosis 4 C565778|604393||cone rod dystrophy aipl1 related C565778|604393||cone rod dystrophy aipl1 related included C565778|604393||lca4 C565778|604393||retinitis pigmentosa juvenile aipl1 related C565778|604393||retinitis pigmentosa juvenile aipl1 related included D010257||paraneoplastic syndromes D010257||paraneoplastic syndrome D010257||syndrome paraneoplastic D010257||syndromes paraneoplastic D010259||paranoid disorders D010259||disorder paranoid D010259||disorders paranoid D010259||paranoia D010259||paranoias D010259||paranoid disorder D010259||paranoid psychoses D010259||psychoses paranoid D010253||respirovirus infections D010253||infections respirovirus C537985|607678||charcot marie tooth disease type 1d C537985|607678||charcot marie tooth disease demyelinating type 1d C537985|607678||charcot marie tooth neuropathy type 1d C537985|607678||cmt1d C537985|607678||hereditary motor and sensory neuropathy 1d C537985|607678||hmsn1d C537985|607678||hmsn 1d C537985|607678||hmsnid C537985|607678||hmsn id D055963||asthma aspirin induced D055963||aspirin induced asthma D055963||aspirin induced asthmas D055963||aspirin induced asthma syndrome D055963||aspirin induced asthma syndromes D055963||asthma nsaid induced D055963||asthmas aspirin induced D055963||asthmas nsaid induced D055963||asthma syndrome aspirin induced D055963||asthma syndromes aspirin induced D055963||induced asthma aspirin D055963||induced asthmas aspirin D055963||nsaid induced asthma D055963||nsaid induced asthmas D055963||syndrome aspirin induced asthma D055963||syndromes aspirin induced asthma D010255||paranasal sinus neoplasms D010255||cancer of paranasal sinus D010255||cancer paranasal sinus D010255||cancers paranasal sinus D010255||neoplasm paranasal sinus D010255||neoplasms paranasal sinus D010255||paranasal sinus cancer D010255||paranasal sinus cancers D010255||paranasal sinus neoplasm D055964||alien hand syndrome D055964||alien hand syndromes D055964||anarchic hand syndrome D055964||anarchic hand syndromes D055964||hand syndrome alien D055964||hand syndrome anarchic D055964||hand syndromes alien D055964||hand syndromes anarchic D055964||syndrome alien hand D055964||syndrome anarchic hand D055964||syndromes alien hand D055964||syndromes anarchic hand C567748|613107||neutropenia severe congenital autosomal dominant 2 C567748|613107||neutropenia severe congenital 2 autosomal dominant C567748|613107||scn2 C567748|613107||severe congenital neutropenia 2 D010254||paranasal sinus diseases D010254||disease paranasal sinus D010254||diseases paranasal sinus D010254||paranasal sinus disease D010254||sinus disease paranasal D010254||sinus diseases paranasal C566963|611363||atrial septal defect 4 C566963|611363||asd4 D009236||myxosarcoma D009236||myxosarcomas D012887||skull fractures D012887||fracture non depressed skull D012887||fracture skull D012887||fractures linear skull D012887||fractures non depressed skull D012887||fractures skull D012887||linear skull fracture D012887||linear skull fractures D012887||non depressed skull fracture D012887||non depressed skull fractures D012887||skull fracture D012887||skull fracture linear D012887||skull fracture non depressed D012887||skull fractures linear D012887||skull fractures non depressed C566146|117210||spinocerebellar ataxia 31 C566146|117210||sca31 C566146|117210||spinocerebellar ataxia 16q22 linked D012888||skull neoplasms D012888||neoplasm skull D012888||neoplasms skull D012888||skull neoplasm D011557||pseudorabies D011557||aujeszky disease D011557||aujeszky apos s disease D011557||aujeszkys disease D011559||pseudotumor cerebri D011559||benign intracranial hypertension D011559||hypertension benign intracranial D011559||hypertension idiopathic intracranial D011559||idiopathic intracranial hypertension D011559||intracranial hypertension benign D011559||intracranial hypertension idiopathic C566310|102900||adenosine triphosphate elevated of erythrocytes C566310|102900||pyruvate kinase hyperactivity 607842|C564321||aural atresia congenital 607842|C564321||caa C566458|609649||trichilemmal cyst 1 C566458|609649|D004814||pilar cyst C566458|609649||tricholemmal cyst C566458|609649||tricy1 C567787|605714||cerebral amyloid angiopathy app related C567787|605714||amyloidosis cerebroarterial app related C567787|605714|C537944||amyloidosis hereditary with cerebral hemorrhage dutch variant C567787|605714||cerebral amyloid angiopathy app related arctic variant C567787|605714||cerebral amyloid angiopathy app related dutch variant C567787|605714||cerebral amyloid angiopathy app related flemish variant C567787|605714||cerebral amyloid angiopathy app related iowa variant C567787|605714||cerebral amyloid angiopathy app related italian variant C567787|605714|C537944||hchwad D010229||paracoccidioidomycosis D010229||blastomycosis south american D010229||paracoccidioidomycoses D010229||south american blastomycosis C567512|611863||microtia with nasolacrimal duct imperforation and eye coloboma D012883||skin ulcer D012883||skin ulcers D012883||ulcer skin D012883||ulcers skin D011553||pseudomyxoma peritonei D011553||ascites gelatinous D011553||gelatinous ascites D011553||pseudomyxoma peritonei syndrome D011553||pseudomyxoma peritonei syndromes D011553||syndrome of pseudomyxoma peritonei C566999|611154||alzheimer disease 14 C566999|611154||ad14 D011552||pseudomonas infections D011552||infection pseudomonas D011552||infections pseudomonas D011552||pseudomonas infection 109660||beta amino acids renal transport of 109660||aabt 109660||taurine renal reabsorption 252900|D009084||mucopolysaccharidosis iii 252900|D009084||acetyl coa alpha glucosaminide n acetyltransferase deficiencies 252900|D009084||acetyl coa alpha glucosaminide n acetyltransferase deficiency 252900|D009084||deficiencies acetyl coa alpha glucosaminide n acetyltransferase 252900|D009084||deficiencies n acetyl alpha d glucosaminidase 252900|D009084||deficiencies n acetylglucosamine 6 sulfatase 252900|D009084||deficiencies n acetylglucosamine 6 sulfate sulfatase 252900|D009084||deficiencies naglu 252900|D009084||deficiencies sulfamidase 252900|D009084||deficiency acetyl coa alpha glucosaminide n acetyltransferase 252900|D009084||deficiency n acetyl alpha d glucosaminidase 252900|D009084||deficiency n acetylglucosamine 6 sulfatase 252900|D009084||deficiency n acetylglucosamine 6 sulfate sulfatase 252900|D009084||deficiency naglu 252900|D009084||deficiency sulfamidase 252900|D009084||heparan sulfate sulfatase deficiency 252900|D009084||iiibs mucopolysaccharidosis type 252900|D009084||mps3a 252900|D009084||mps 3 a 252900|D009084||mps3b 252900|D009084||mps 3 b 252900|D009084||mps3c 252900|D009084||mps 3 c 252900|D009084||mps3d 252900|D009084||mps 3 d 252900|D009084||mps iiia 252900|D009084||mps iii a 252900|D009084||mps iiib 252900|D009084||mps iii b 252900|D009084||mps iiic 252900|D009084||mps iii c 252900|D009084||mps iiid 252900|D009084||mps iii d 252900|D009084||mps iiids 252900|D009084||mucopolysaccharidosis 3 252900|D009084||mucopolysaccharidosis iiis 252900|D009084||mucopolysaccharidosis type 3 a 252900|D009084||mucopolysaccharidosis type 3 a sanfilippo syndrome 252900|D009084||mucopolysaccharidosis type 3 b 252900|D009084||mucopolysaccharidosis type 3 c 252900|D009084||mucopolysaccharidosis type 3 d 252900|D009084||mucopolysaccharidosis type iiia 252900|D009084||mucopolysaccharidosis type iiias 252900|D009084||mucopolysaccharidosis type iiib 252900|D009084||mucopolysaccharidosis type iiibs 252900|D009084||mucopolysaccharidosis type iiic 252900|D009084||mucopolysaccharidosis type iiics 252900|D009084||mucopolysaccharidosis type iiid 252900|D009084||mucopolysaccharidosis type iiids 252900|D009084||n acetyl alpha d glucosaminidase deficiencies 252900|D009084||n acetyl alpha d glucosaminidase deficiency 252900|D009084||n acetylglucosamine 6 sulfatase deficiencies 252900|D009084||n acetylglucosamine 6 sulfatase deficiency 252900|D009084||n acetylglucosamine 6 sulfate sulfatase deficiencies 252900|D009084||n acetylglucosamine 6 sulfate sulfatase deficiency 252900|D009084||n acetyltransferase deficiencies acetyl coa alpha glucosaminide 252900|D009084||n acetyltransferase deficiency acetyl coa alpha glucosaminide 252900|D009084||naglu deficiencies 252900|D009084||naglu deficiency 252900|D009084||oligophrenia polydystrophic 252900|D009084||oligophrenias polydystrophic 252900|D009084||polydystrophic oligophrenia 252900|D009084||polydystrophic oligophrenias 252900|D009084||sanfilippo apos s syndrome 252900|D009084||sanfilippos syndrome 252900|D009084||san filippo apos s syndrome 252900|D009084||san filippos syndrome 252900|D009084||sanfilippo syndrome 252900|D009084||san filippo syndrome 252900|D009084||sanfilippo syndrome a 252900|D009084||sanfilippo syndrome b 252900|D009084||sanfilippo syndrome c 252900|D009084||sanfilippo syndrome d 252900|D009084||sanfilippo syndromes 252900|D009084||sulfamidase deficiencies 252900|D009084||sulfamidase deficiency 252900|D009084||sulfatase deficiencies n acetylglucosamine 6 sulfate 252900|D009084||sulfatase deficiency n acetylglucosamine 6 sulfate 252900|D009084||syndrome sanfilippo 252900|D009084||syndrome sanfilippo apos s 252900|D009084||syndrome san filippo apos s 252900|D009084||syndromes sanfilippo D012899||smallpox D012899||alastrim D012899||minors variola D012899||minor variola D012899||variola D012899||variola minor D012899||variola minors D012899||variolas D010237||paragonimiasis D010237||infection paragonimus westermani D010237||infections paragonimus westermani D010237||paragonimiases D010237||paragonimus westermani infection D010237||paragonimus westermani infections D010237||westermani infection paragonimus D010237||westermani infections paragonimus D012897||slow virus diseases D012897||disease slow virus D012897||diseases slow virus D012897||slow virus disease D012897||virus disease slow D012897||virus diseases slow D010236||paraganglioma extra adrenal D010236||chemodectoma D010236|D010235|168000||chemodectomas D010236||extra adrenal paraganglioma D010236||extra adrenal paragangliomas D010236||nonchromaffin paraganglioma D010236||non chromaffin paraganglioma D010236||nonchromaffin paragangliomas D010236||non chromaffin paragangliomas D010236||paraganglioma nonchromaffin D010236||paraganglioma non chromaffin D010236||paragangliomas extra adrenal D010236||paragangliomas familial nonchromaffin 1 D010236||paragangliomas nonchromaffin D010236||paragangliomas non chromaffin D017074|240500||common variable immunodeficiency D017074|240500||acquired hypogammaglobulinemia D017074|240500||acquired hypogammaglobulinemias D017074|240500||antibody deficiency due to baffr defect D017074|240500||antibody deficiency due to cd19 defect D017074|240500||antibody deficiency due to cd20 defect D017074|240500||antibody deficiency due to cd81 defect D017074|240500||antibody deficiency due to icos defect immunodeficiency common variable included D017074|240500||antibody deficiency due to taci defect D017074|240500||common variable hypogammaglobulinemia D017074|240500||common variable hypogammaglobulinemias D017074|240500||common variable immune deficiency D017074|240500||common variable immunodeficiencies D017074|240500||cvid1 D017074|240500||cvid2 D017074|240500||cvid3 D017074|240500||cvid4 D017074|240500||cvid5 D017074|240500||cvid6 D017074|240500||cvid included D017074|240500||deficiencies late onset immunoglobulin D017074|240500||deficiency late onset immunoglobulin D017074|240500||hypogammaglobulinemia acquired D017074|240500||hypogammaglobulinemia common variable D017074|240500||hypogammaglobulinemia due to taci deficiency D017074|240500||hypogammaglobulinemias acquired D017074|240500||hypogammaglobulinemias common variable D017074|240500||immunodeficiencies common variable D017074|240500||immunodeficiency common variable D017074|240500||immunodeficiency common variable 1 D017074|240500||immunodeficiency common variable 2 D017074|240500||immunodeficiency common variable 3 D017074|240500||immunodeficiency common variable 4 D017074|240500||immunodeficiency common variable 5 D017074|240500||immunodeficiency common variable 6 D017074|240500||immunoglobulin deficiencies late onset D017074|240500||immunoglobulin deficiency late onset D017074|240500||late onset immunoglobulin deficiencies D017074|240500||late onset immunoglobulin deficiency D017074|240500||variable hypogammaglobulinemia common D017074|240500||variable hypogammaglobulinemias common D012891||sleep apnea syndromes D012891||apnea sleep D012891||apneas sleep D012891||apnea syndrome sleep D012891||apnea syndromes sleep D012891||breathing sleep disordered D012891||hypersomnia with periodic respiration D012891||hypopnea sleep D012891||hypopneas sleep D012891||mixed central and obstructive sleep apnea D012891||mixed sleep apnea D012891||mixed sleep apneas D012891||sleep apnea D012891||sleep apnea mixed D012891||sleep apnea mixed central and obstructive D012891||sleep apneas D012891||sleep apneas mixed D012891||sleep apnea syndrome D012891||sleep disordered breathing D012891||sleep hypopnea D012891||sleep hypopneas C567587|300779||corneal dystrophy endothelial x linked C567587|300779||endothelial corneal dystrophy x linked C567587|300779||xecd D012892||sleep deprivation D012892||deprivation rem sleep D012892||deprivation sleep D012892||deprivations rem sleep D012892||deprivations sleep D012892||fragmentation sleep D012892||fragmentations sleep D012892||insufficient sleep syndrome D012892||insufficient sleep syndromes D012892||rem sleep deprivation D012892||rem sleep deprivations D012892||sleep deprivation rem D012892||sleep deprivations D012892||sleep deprivations rem D012892||sleep fragmentation D012892||sleep fragmentations D012892||syndrome insufficient sleep D012892||syndromes insufficient sleep D055985||latent tuberculosis D055985||infection latent tuberculosis D055985||infections latent tuberculosis D055985||latent tuberculoses D055985||latent tuberculosis infection D055985||latent tuberculosis infections D055985||tuberculoses latent D055985||tuberculosis infection latent D055985||tuberculosis infections latent D055985||tuberculosis latent D036841||ciguatera poisoning D036841||ciguatera D036841||ciguatera fish poisoning D036841||ciguatera fish poisonings D036841||ciguatera poisonings D036841||poisoning ciguatera D036841||poisoning ciguatera fish D036841||poisonings ciguatera D036841||poisonings ciguatera fish D012893||sleep disorders D012893||long sleeper syndrome D012893||long sleeper syndromes D012893||neurogenic tachypnea sleep related D012893||neurogenic tachypneas sleep related D012893||phenotype short sleep D012893||phenotypes short sleep D012893||short sleeper syndrome D012893||short sleeper syndromes D012893||short sleep phenotype D012893||short sleep phenotypes D012893||sleep related neurogenic tachypnea D012893||sleep related neurogenic tachypneas D012893||subwakefullness syndrome D012893||subwakefullness syndromes D012893||syndrome long sleeper D012893||syndrome short sleeper D012893||syndromes long sleeper D012893||syndromes short sleeper D012893||syndromes subwakefullness D012893||syndrome subwakefullness D012893||tachypnea sleep related neurogenic D012893||tachypneas sleep related neurogenic C563087||mexican cardiomelic dysplasia C563087||mesoaxial hexadactyly and cardiac malformation C537931|228900||fibular hypoplasia and complex brachydactyly C537931|228900||du pan syndrome C535850||heart defects limb shortening C535850||cardioskeletal syndrome kuwaiti type C535850||congenital heart disease and skeletal malformations C536737|300421||wittwer syndrome C536737|300421||wtrs 607745|C564274||epilepsy benign neonatal 3 607745|C564274||bfic3 607745|C564274||bfis3 607745|C564274||bfnis 607745|C564274|601764|D020936||convulsions benign familial infantile 3 607745|C564274||convulsions benign familial neonatal 3 607745|C564274|601764|D020936||seizures benign familial infantile 3 607745|C564274|601764|D020936||seizures benign familial neonatal infantile D009217||myosarcoma D009217||myosarcomas D000881||anthrax D023521||chlamydophila infections D023521||chlamydophila infection D023521||infection chlamydophila D023521||infections chlamydophila D009214||myoma D009214||myomas D010202||panophthalmitis D010202||panophthalmitides C535849||heart defect tongue hamartoma and polysyndactyly C535849||ostravik lindemann solberg syndrome D009223||myotonic dystrophy D009223||congenital myotonic dystrophies D009223||congenital myotonic dystrophy D009223||dystrophies congenital myotonic D009223||dystrophies myotonic D009223||dystrophy congenital myotonic D009223||dystrophy myotonic D009223||myotonia atrophica D009223||myotonia dystrophica D009223||myotonic dystrophies D009223||myotonic dystrophies congenital D009223||myotonic dystrophy congenital D009223||steinert apos s disease D010201||panniculitis nodular nonsuppurative D010201||disease weber christian D010201||nodular nonsuppurative panniculitides D010201||nodular nonsuppurative panniculitis D010201||nonsuppurative panniculitides nodular D010201||nonsuppurative panniculitis nodular D010201||panniculitides nodular nonsuppurative D010201||weber christian disease D009222||myotonia D009222||myotonia percussion D009222||myotonias D009222||myotonias percussion D009222||myotonic phenomenon D009222||myotonic phenomenons D009222||percussion myotonia D009222||percussion myotonias D009222||phenomenon myotonic D009222||phenomenons myotonic D009220||myositis D009220||focal myositides D009220||focal myositis D009220||idiopathic inflammatory myopathies D009220||idiopathic inflammatory myopathy D009220||idiopathic inflammatory myositis D009220||infectious myositides D009220||infectious myositis D009220||inflammatory muscle disease D009220||inflammatory muscle diseases D009220||inflammatory myopathies D009220||inflammatory myopathies idiopathic D009220||inflammatory myopathy D009220||inflammatory myopathy idiopathic D009220||muscle disease inflammatory D009220||muscle diseases inflammatory D009220||myopathies idiopathic inflammatory D009220||myopathies inflammatory D009220||myopathy idiopathic inflammatory D009220||myopathy inflammatory D009220||myositides D009220||myositides focal D009220||myositides infectious D009220||myositides proliferative D009220||myositis focal D009220||myositis infectious D009220||myositis proliferative D009220||proliferative myositides D009220||proliferative myositis D011537||pruritus D011537||itching D011537||pruritis D011536||prurigo D011539||pruritus vulvae D012868||skin abnormalities D012868||abnormalities skin D012868||abnormality skin D012868||skin abnormality D011538||pruritus ani C537117|611554||leopard syndrome 2 D011125|175100||adenomatous polyposis coli D011125|175100||aapc included D011125|175100||adenomatous intestinal polyposes D011125|175100||adenomatous intestinal polyposis D011125|175100||adenomatous polyposes familial D011125|175100||adenomatous polyposis coli attenuated included D011125|175100||adenomatous polyposis coli familial D011125|175100||adenomatous polyposis colus D011125|175100||adenomatous polyposis familial D011125|175100||adenomatous polyposis of the colon D011125|175100||afap included D011125|175100||apc D011125|175100||brain tumor polyposis syndrome 2 included D011125|175100||btps2 included D011125|175100||coli adenomatous polyposis D011125|175100||coli familial polyposis D011125|175100||coli hereditary polyposis D011125|175100||coli polyposis D011125|175100||colus adenomatous polyposis D011125|175100||colus familial polyposis D011125|175100||colus hereditary polyposis D011125|175100||colus polyposis D011125|175100||familial adenomatous polyposes D011125|175100||familial adenomatous polyposis D011125|175100||familial adenomatous polyposis 1 D011125|175100||familial adenomatous polyposis attenuated included D011125|175100||familial adenomatous polyposis coli D011125|175100||familial adenomatous polyposis of the colon D011125|175100||familial intestinal polyposes D011125|175100||familial intestinal polyposis D011125|175100||familial multiple polyposes D011125|175100||familial multiple polyposi D011125|175100||familial multiple polyposis D011125|175100||familial multiple polyposis syndrome D011125|175100||familial multiple polyposus D011125|175100||familial polyposis coli D011125|175100||familial polyposis colus D011125|175100||familial polyposis of the colon D011125|175100||familial polyposis syndrome D011125|175100||familial polyposis syndromes D011125|175100||fap1 D011125|175100||fpc D011125|175100||gs included D011125|175100||hereditary polyposis coli D011125|175100||hereditary polyposis colus D011125|175100||intestinal polyposes familial D011125|175100||intestinal polyposis adenomatous D011125|175100||intestinal polyposis familial D011125|175100||multiple polyposes familial D011125|175100||multiple polyposi familial D011125|175100||multiple polyposis familial D011125|175100||multiple polyposus familial D011125|175100||myh associated polyposes D011125|175100||myh associated polyposis D011125|175100||polyposes familial adenomatous D011125|175100||polyposes familial multiple D011125|175100||polyposes myh associated D011125|175100||polyposi familial multiple D011125|175100||polyposis adenomatous intestinal D011125|175100||polyposis adenomatous intestinal gardner syndrome included D011125|175100||polyposis coli D011125|175100||polyposis coli adenomatous D011125|175100||polyposis coli familial D011125|175100||polyposis coli hereditary D011125|175100||polyposis colus D011125|175100||polyposis colus adenomatous D011125|175100||polyposis colus familial D011125|175100||polyposis colus hereditary D011125|175100||polyposis familial adenomatous D011125|175100||polyposis familial multiple D011125|175100||polyposis myh associated D011125|175100||polyposis syndrome familial D011125|175100||polyposus familial multiple C536601|204100||amaurosis congenita of leber type 2 C536601|204100||amaurosis congenita of leber ii C536601|204100||lca2 C536601|204100||leber congenital amaurosis 2 C536601|204100||leber congenital amaurosis type 2 C535841||hashimoto apos s encephalitis C535841||autoimmune encephalitis C535841||hashimoto apos s encephalopathy C535841||steroid responsive encephalopathy associated with autoimmune thyroiditis C535840||selig benacerraf greene syndrome C535840||renal dysplasia megalocystis and sirenomelia C535843||hashimoto pritzker syndrome C535843||hashimoto pritzker disease C535843||hashimoto pritzker histiocytosis C535842||thyroiditis chronic C565716|610154||deafness autosomal recessive 44 C565716|610154||dfnb44 C535844||haspeslagh fryns muelenaere syndrome C535844||distinctive craniofacial features with pterygia and mental retardation C535844||haspeslagh syndrome C535844||mental retardation with pterygia shortness and distinct facial appearance C535844||pterygia mental retardation and distinctive craniofacial features C563095||mental retardation buenos aires type C563095||mutchinick syndrome C563094||mucopolysaccharidosis type viii C563094||diferrante syndrome C563094||glucosamine 6 sulfate sulfatase deficiency C563094||mps viii C535846||hay wells syndrome recessive type C535846||ankyloblepharon ectodermal defects and cleft lip and palate and congenital adhesions between the upper and lower jaws alveolar synechiae C537555|605013||microhydranencephaly C537555|605013||hydranencephaly and microcephaly C537555|605013||mhac C535861||hemangiomatosis familial pulmonary capillary C535861||familial pulmonary capillary hemangiomatosis C563733|609338||carotid intimal medial thickness 1 C563733|609338||cimt1 C563733|609338||intimal medial thickness of internal carotid artery D012876||skin diseases parasitic D012876||disease parasitic skin D012876||diseases parasitic skin D012876||parasitic skin disease D012876||parasitic skin diseases D012876||skin disease parasitic D036821||endometrial stromal tumors D036821||endolymphatic stromal myoses D036821||endolymphatic stromal myosis D036821||endometrial stromal tumor D036821||myoses endolymphatic stromal D036821||myosis endolymphatic stromal D036821||sarcoma endometrial stromal low grade D036821||stromal myoses endolymphatic D036821||stromal myosis endolymphatic D036821||stromal tumor endometrial D036821||stromal tumors endometrial D036821||tumor endometrial stromal D036821||tumors endometrial stromal D012877||skin manifestations D012877||manifestation skin D012877||manifestations skin D012877||skin manifestation D009234||myxomatosis infectious D009234||infectious myxomatoses D009234||infectious myxomatosis D009234||myxomatoses infectious D010212||papilloma D010212||papillomas D010212||papilloma squamous cell D010212||papillomas squamous cell D010212||papillomatoses D010212||papillomatosis D010212||squamous cell papilloma D010212||squamous cell papillomas D012874||skin diseases infectious D012874||disease infectious skin D012874||diseases infectious skin D012874||infectious skin disease D012874||infectious skin diseases D012874||skin disease infectious C537255|235510||hennekam lymphangiectasia lymphedema syndrome C537255|235510||lymphangiectasies and lymphedema hennekam type C537255|235510||lymphatic dysplasia generalized D012875||skin diseases metabolic D012875||disease metabolic skin D012875||diseases metabolic skin D012875||metabolic skin disease D012875||metabolic skin diseases D012875||skin disease metabolic C567732|613123||brugada syndrome 8 C567732|613123||brgda8 D009232||myxoma D009232||angiomyxoma D009232||angiomyxomas D009232||myxomas D010217||phlebotomus fever D010217||pappataci fever D010217||pappataci fevers D010217||phlebotomus fevers D010217||sandfly fever D010217||sandfly fevers C563759|609258||myopia 9 C563759|609258||myp9 D009230||myxedema D009230||myxedemas D011547||pseudohypoparathyroidism D011547||phd1b D011547||phd ib D011547||phd ibs D011547||pseudohypoparathyroidisms D011547||pseudohypoparathyroidisms type ia D011547||pseudohypoparathyroidisms type ib D011547|D011546|145260||pseudohypoparathyroidism type ib D011547||type ia pseudohypoparathyroidism D011547||type ia pseudohypoparathyroidisms D011547||type ib pseudohypoparathyroidism D011547||type ib pseudohypoparathyroidisms D012878||skin neoplasms D012878||cancer of skin D012878||cancer of the skin D012878||cancer skin D012878||cancers skin D012878||neoplasm skin D012878||neoplasms skin D012878||skin cancer D012878||skin cancers D012878||skin neoplasm C535854||heavy metal toxicity C535854||chronic heavy metal poisoning C535854||heavy metal poisoning C535853||heart hand syndrome spanish type C535853||brachydactyly and intraventricular conduction defect C535853||upper limb malformations and congenital cardiac anomalies D012872||skin diseases vesiculobullous D012872||bullous dermatoses D012872||bullous skin disease D012872||bullous skin diseases D012872||dermatoses bullous D012872||dermatoses subcorneal pustular D012872||dermatoses vesiculobullous D012872||dermatosis subcorneal pustular D012872||pustular dermatoses subcorneal D012872||pustular dermatosis subcorneal D012872||skin disease bullous D012872||skin diseases bullous D012872||skin diseases vesicular D012872||skin disease vesicular D012872||skin disease vesiculobullous D012872||sneddon wilkinson disease D012872||subcorneal pustular dermatoses D012872||subcorneal pustular dermatosis D012872||vesicular skin disease D012872||vesicular skin diseases D012872||vesiculobullous dermatoses D012872||vesiculobullous skin disease D012872||vesiculobullous skin diseases C535856||hecht scott syndrome C535856||limb deficiency heart malformation syndrome D012873||skin diseases genetic D012873||disease genetic skin D012873||diseases genetic skin D012873||genetic skin disease D012873||genetic skin diseases D012873||skin disease genetic C535855||hydrocephalus endocardial fibroelastosis and cataracts C535855||communicating hydrocephalus endocardial fibroelastosis efe and congenital cataracts D052016||mucositis D052016||mucositides D011542||pseudarthrosis D011542||pseudarthroses D011542||pseudoarthroses D011542||pseudoarthrosis D010211||papilledema D010211||choked disk D010211||choked disks D010211||decreased intraocular pressure associated papilledema D010211||disk choked D010211||disks choked D010211||edema optic disk D010211||edema optic papilla D010211||edema retinal D010211||edemas optic disk D010211||edemas optic papilla D010211||edemas retinal D010211||increased intracranial pressure associated papilledema D010211||nerve papillitides optic D010211||nerve papillitis optic D010211||optic disk edema D010211||optic disk edemas D010211||optic nerve papillitides D010211||optic nerve papillitis D010211||optic papilla edema D010211||optic papilla edemas D010211||optic papillitis D010211||papilledema associated with decreased intraocular pressure D010211||papilledema associated with increased intracranial pressure D010211||papilledemas D010211||papillitides D010211||papillitides optic nerve D010211||papillitis D010211||papillitis optic D010211||papillitis optic nerve D010211||retinal edema D010211||retinal edemas C535858||hem dysplasia C535858|215140||chondrodystrophy hydropic and prenatally lethal type C535858|215140||greenberg dysplasia C535858||greenberg skeletal dysplasia C535858|215140||hem skeletal dysplasia C535858|215140||hydrops ectopic calcification moth eaten skeletal dysplasia C535858|215140||moth eaten skeletal dysplasia D012871||skin diseases D012871||dermatoses D012871||dermatosis D012871||disease skin D012871||diseases skin D012871||skin disease C563067||hypospadias mental retardation syndrome C535870||rombo syndrome D000868||anterior compartment syndrome D000868||anterior compartment syndromes D000868||anterior tibial syndrome D000868||anterior tibial syndromes D000868||compartment syndrome anterior D000868||compartment syndromes anterior D000868||syndrome anterior compartment D000868||syndrome anterior tibial D000868||syndromes anterior compartment D000868||syndromes anterior tibial D000868||tibial syndrome anterior D000868||tibial syndromes anterior C535871||rommen mueller sybert syndrome C535871||developmental delay growth deficiency congenital heart defect and multiple craniofacial anomalies C535871||short stature heart defect and craniofacial anomalies D000860||anoxia D000860||anoxemia D000860||anoxemias D000860||anoxias D000860||deficiencies oxygen D000860||deficiency oxygen D000860||hypoxemia D000860||hypoxemias D000860||hypoxia D000860||hypoxias D000860||oxygen deficiencies D000860||oxygen deficiency D009202||cardiomyopathies D009202||cardiomyopathies primary D009202||cardiomyopathies secondary D009202||cardiomyopathy D009202||cardiomyopathy primary D009202||cardiomyopathy secondary D009202||disease myocardial D009202||disease primary myocardial D009202||disease secondary myocardial D009202||diseases myocardial D009202||diseases primary myocardial D009202||diseases secondary myocardial D009202||myocardial disease D009202||myocardial disease primary D009202||myocardial diseases D009202||myocardial disease secondary D009202||myocardial diseases primary D009202||myocardial diseases secondary D009202||myocardiopathies D009202||myocardiopathy D009202||primary cardiomyopathies D009202||primary cardiomyopathy D009202||primary myocardial disease D009202||primary myocardial diseases D009202||secondary cardiomyopathies D009202||secondary cardiomyopathy D009202||secondary myocardial disease D009202||secondary myocardial diseases 306000||glycogen storage disease ixa1 306000||glycogen storage disease viii formerly 306000||gsd9a1 306000||gsd9a2 included 306000||gsd ixa2 included 306000||gsd viii formerly gsd8 formerly glycogen storage disease ixa2 included 306000||liver glycogenosis x linked type i 306000||liver glycogenosis x linked type ii included 306000||xlg1 306000||xlg2 included D011512||proteus infections D011512||infection proteus D011512||infections proteus D011512||proteus infection D012848||sinoatrial block D012848||block sinoatrial D012848||block sinoatrial exit D012848||blocks sinoatrial D012848||blocks sinoatrial exit D012848||exit block sinoatrial D012848||exit blocks sinoatrial D012848||sinoatrial blocks D012848||sinoatrial exit block D012848||sinoatrial exit blocks C535862||hemifacial myohyperplasia C535862||hypertrophy and asymmetry of the facial muscles C535865||rodrigues blindness D054685||lymphoma primary effusion D054685||effusion lymphoma primary D054685||effusion lymphomas primary D054685||lymphomas primary effusion D054685||primary effusion lymphoma D054685||primary effusion lymphomas C535864||robinson miller bensimon syndrome C535864||deafness and onychodystrophy dominant form C535869||rokitansky aschoff sinuses of the gallbladder C535869||intramural diverticulosis of the gallbladder C535869||rokitansky aschoff sinuses 415000|C564030||spermatogenic failure nonobstructive y linked 415000|C564030||azf regions included 415000|C564030||azoospermia nonobstructive y linked 415000|C564030||oligospermia nonobstructive y linked 415000|C564030||oligozoospermia nonobstructive y linked 415000|C564030||spermatogenic arrest y linked 415000|C564030||spermatogenic arrest y linked azoospermia factor regions included 415000|C564030||spermatogenic failure y linked 2 415000|C564030||spgfy2 309300|C562829||megalocornea 309300|C562829||mgc1 309300|C562829||mgcn D024821||metabolic syndrome x D024821||cardiovascular syndrome metabolic D024821||cardiovascular syndromes metabolic D024821||dysmetabolic syndrome x D024821||insulin resistance syndrome x D024821||metabolic cardiovascular syndrome D024821||metabolic x syndrome D024821||reaven syndrome x D024821||syndrome metabolic cardiovascular D024821||syndrome metabolic x D024821||syndrome x dysmetabolic D024821||syndrome x insulin resistance D024821||syndrome x metabolic D024821||syndrome x reaven D024821||x syndrome metabolic D000874||anthracosilicosis D000874||anthracosilicoses C567867|612900||cerebral palsy spastic quadriplegic 2 C567867|612900||cpsq2 C535881||johnson munson syndrome C535881||aphalangy of the hands and feet hemivertebrae and visceral malformations C535881||aphalangy with hemivertebrae C535883||johnston aarons schelley syndrome C535883||arthrogryposis with hyperkeratosis C535883||joint contractures hyperkeratosis and severe hypoplasia of the posterior columns C535882||johnson neuroectodermal syndrome C535882||aadh syndrome C535882||alopecia anosmia deafness hypogonadism syndrome C535882||johnson mcmillin syndrome D009209||myofascial pain syndromes D009209||myofascial pain syndrome D009209||myofascial trigger point pain D009209||pain syndrome myofascial D009209||pain syndromes myofascial D009209||syndrome myofascial pain D009209||syndromes myofascial pain D009209||trigger point pain myofascial D011529||protozoan infections animal D011529||animal protozoan infection D011529||animal protozoan infections D011529||infection animal protozoan D011529||infections animal protozoan D011529||protozoan infection animal C538363|601777||retinal cone dystrophy 2 C538363|601777||cone degeneration autosomal dominant progressive C538363|601777||cone rod dystrophy 6 C538363|601777||cord6 C538363|601777||rcd2 D009208||myoepithelioma D009208||myoepithelial tumor D009208||myoepithelial tumors D009208||myoepitheliomas D009208||tumor myoepithelial D009208||tumors myoepithelial D009207||myoclonus D009207||action myoclonus D009207||extremity myoclonus lower D009207||extremity myoclonus upper D009207||eyelid myoclonus D009207||intention myoclonus D009207||jerking myoclonic D009207||jerk myoclonic D009207||jerks myoclonic D009207||lower extremity myoclonus D009207||myoclonic jerk D009207||myoclonic jerking D009207||myoclonic jerks D009207||myoclonus action D009207||myoclonus eyelid D009207||myoclonus intention D009207||myoclonus lower extremity D009207||myoclonus nocturnal D009207||myoclonus oculopalatal D009207||myoclonus palatal D009207||myoclonus segmental D009207||myoclonus simplex D009207||myoclonus sleep D009207||myoclonus upper extremity D009207||nocturnal myoclonus D009207||oculopalatal myoclonus D009207||palatal myoclonus D009207||polymyoclonus D009207||segmental myoclonus D009207||simplex myoclonus D009207||sleep myoclonus D009207||upper extremity myoclonus D009205||myocarditis D009205||carditis D009205||myocarditides 261515||d bifunctional protein deficiency 261515||17 beta hydroxysteroid dehydrogenase iv deficiency 261515||dbp deficiency 261515||pbfe deficiency 261515|C537286||peroxisomal bifunctional enzyme deficiency C565733|604928||wolfram syndrome 2 C565733|604928||wfs2 D009212||myoglobinuria D009212||myoglobinurias D012852||sinusitis D012852||sinusitides C566608|601885||cataract zonular pulverulent 3 C566608|601885||cae3 C566608|601885||cataract 14 multiple types C566608|601885||ctrct14 C566608|601885||czp3 219500|C535408||gamma cystathionase deficiency 219500|C535408|C562680||cystathionase deficiency 219500|C535408||cystathioninuria D011528||protozoan infections D011528||histomoniases D011528||histomoniasis D011528||infection protozoan D011528||infections protozoan D011528||protozoan infection D012857||situs inversus D012857||inversus situs D012857|270100||situs inversus viscerum 116860|D020786||hemangioma cavernous central nervous system 116860|D020786||angioma familial cavernous 116860|D020786||angiomas familial cavernous 116860|D020786||angiomatous malformation cavernous 116860|D020786||angiomatous malformations cavernous 116860|D020786||brain cavernous hemangioma 116860|D020786||brain cavernous hemangiomas 116860|D020786||capillary malformation cerebral 116860|D020786||capillary malformations cerebral 116860|D020786||cavernous angioma central nervous system 116860|D020786||cavernous angioma familial 116860|D020786||cavernous angiomas familial 116860|D020786||cavernous angiomatous malformation 116860|D020786||cavernous angiomatous malformations 116860|D020786||cavernous hemangioma central nervous system 116860|D020786||cavernous hemangioma cerebral 116860|D020786||cavernous hemangioma extracerebral 116860|D020786||cavernous hemangioma intracerebral 116860|D020786||cavernous hemangioma of brain 116860|D020786||cavernous hemangiomas cerebral 116860|D020786||cavernous hemangiomas extracerebral 116860|D020786||cavernous hemangiomas intracerebral 116860|D020786||cavernous malformation cerebral 116860|D020786||cavernous malformation familial 116860|D020786||cavernous malformations cerebral 116860|D020786||cavernous malformations familial 116860|D020786||cavernous malformations of cns and retina included 116860|D020786||ccm 116860|D020786||ccm1 included 116860|D020786||central nervous system cavernous hemangioma 116860|D020786||cerebral capillary malformation 116860|D020786||cerebral capillary malformations 116860|D020786||cerebral capillary malformations cerebral cavernous malformations 1 included 116860|D020786||cerebral cavernous hemangioma 116860|D020786||cerebral cavernous hemangiomas 116860|D020786||cerebral cavernous malformation 116860|D020786||cerebral cavernous malformations 116860|D020786||extracerebral cavernous hemangioma 116860|D020786||extracerebral cavernous hemangiomas 116860|D020786||familial cavernous angioma 116860|D020786||familial cavernous angiomas 116860|D020786||familial cavernous malformation 116860|D020786||familial cavernous malformations 116860|D020786||hemangioma cerebral cavernous 116860|D020786||hemangioma extracerebral cavernous 116860|D020786||hemangioma intracerebral cavernous 116860|D020786||hemangiomas cerebral cavernous 116860|D020786||hemangiomas extracerebral cavernous 116860|D020786||hemangiomas intracerebral cavernous 116860|D020786||hyperkeratotic cutaneous capillary venous malformations associated with cerebral capillary malformations included 116860|D020786||intracerebral cavernous hemangioma 116860|D020786||intracerebral cavernous hemangiomas 116860|D020786||malformation cavernous angiomatous 116860|D020786||malformation cerebral capillary 116860|D020786||malformation cerebral cavernous 116860|D020786||malformation familial cavernous 116860|D020786||malformations cavernous angiomatous 116860|D020786||malformations cerebral capillary 116860|D020786||malformations cerebral cavernous 116860|D020786||malformations familial cavernous C535874||rowley rosenberg syndrome C535874||growth retardation pulmonary hypertension and aminoaciduria C535874||growth retardation pulmonary hypertension and amino aciduria C563080||lysine malabsorption syndrome C538416|302960||chondrodysplasia punctata 2 x linked dominant C538416|302960||cdpx2 C538416|302960||cdpxd C538416|302960|D002806||conradi hunermann happle syndrome C538416|302960|D002806||conradi hunermann syndrome C538416|302960||cpxd C538416|302960|D002806||happle syndrome C535876||rozin hertz goodman syndrome C535876||camptodactyly joint contractures facial skeletal defects C535876||camptodactyly myopia and fibrosis of the medial rectus muscle of eye C535875||roy maroteaux kremp syndrome C535875||metaphyseal modeling abnormality skin lesions and spastic paraplegia C563086||ataxia microcephaly cataract syndrome C563086||amc syndrome C535878||rud syndrome C535878||dwarfism ichthyosiform erythroderma mental deficiency syndrome C535878||ichthyosis hypogonadism mental retardation epilepsy syndrome C535878||ichthyosis male hypogonadism syndrome C535878||ichthyosis mental retardation epilepsy hypogonadism syndrome C535878||ichthyosis oligophrenia epilepsy syndrome C535878||neuroichthyosis hypogonadism syndrome C535878||rud apos s syndrome D012851||sinus thrombosis intracranial D012851||cranial sinus thromboses D012851||cranial sinus thrombosis D012851||intracranial sinus thrombophlebitides D012851||intracranial sinus thrombophlebitis D012851||intracranial sinus thromboses D012851||intracranial sinus thrombosis D012851||petrous sinus thrombophlebitides D012851||petrous sinus thrombophlebitis D012851||petrous sinus thromboses D012851||petrous sinus thrombosis D012851||sinus thrombophlebitides intracranial D012851||sinus thrombophlebitides petrous D012851||sinus thrombophlebitis intracranial D012851||sinus thrombophlebitis petrous D012851||sinus thromboses D012851||sinus thromboses cranial D012851||sinus thromboses intracranial D012851||sinus thromboses petrous D012851||sinus thrombosis D012851||sinus thrombosis cranial D012851||sinus thrombosis petrous D012851||thrombophlebitides intracranial sinus D012851||thrombophlebitides petrous sinus D012851||thrombophlebitis intracranial sinus D012851||thrombophlebitis petrous sinus D012851||thromboses cranial sinus D012851||thromboses intracranial sinus D012851||thromboses petrous sinus D012851||thromboses sinus D012851||thrombosis cranial sinus D012851||thrombosis intracranial sinus D012851||thrombosis petrous sinus D012851||thrombosis sinus D012851||venous sinus thrombosis cranial C563085||mercaptolactate cysteine disulfiduria C563085||disulfiduria mixed C535877||rubinstein taybi like syndrome C535879||rudd klimek syndrome C535879||caudal dysgenesis familial type C535879||familial caudal dysgenesis C563162|118600||chondrocalcinosis 2 C563162|118600||calcium gout C563162|118600||calcium pyrophosphate arthropathy C563162|118600||calcium pyrophosphate dihydrate deposition disease C563162|118600||ccal2 C563162|118600||chondrocalcinosis familial articular C563162|118600||cppdd D040181||genetic diseases x linked D040181||diseases x linked genetic D040181||disease x linked genetic D040181||genetic diseases x chromosome linked D040181||genetic disease x linked D040181||x linked genetic disease D040181||x linked genetic diseases C567763||capillary malformation of the lower lip lymphatic malformation of face and neck asymmetry of face and limbs and partial generalized overgrowth C567763||clapo C567763||lopez gutierrez syndrome C566433||chromosome 16p13 3 deletion syndrome C566433||rsts severe C566433||rubinstein taybi syndrome severe 614021||ventricular tachycardia catecholaminergic polymorphic 3 614021||cpvt3 261100|C538556||megaloblastic anemia 1 261100|C538556||enterocyte cobalamin malabsorption 261100|C538556||enterocyte intrinsic factor receptor defect of 261100||igs 261100|C538556||imerslund grasbeck syndrome 261100|250950|C562801||mga1 261100||pernicious anemia juvenile due to selective intestinal malabsorption of vitamin b12 with proteinuria C565103||dermoodontodysplasia C566434||myasthenia limb girdle with tubular aggregates C567228|612631||adenylate kinase deficiency hemolytic anemia due to D011618||psychotic disorders D011618||brief reactive psychoses D011618||brief reactive psychosis D011618||disorder psychotic D011618||disorder schizoaffective D011618||disorder schizophreniform D011618||disorders psychotic D011618||disorders schizoaffective D011618||disorders schizophreniform D011618||psychoses D011618||psychoses brief reactive D011618||psychosis D011618||psychosis brief reactive D011618||psychotic disorder D011618||reactive psychoses brief D011618||reactive psychosis brief D011618||schizoaffective disorder D011618||schizoaffective disorders D011618||schizophreniform disorder D011618||schizophreniform disorders C565109||dermal ridges patternless C566594|601992||friedreich ataxia 2 C566594|601992||frda2 C538141|272300||sulfite oxidase deficiency C538141|272300||sulfocysteinuria 174900|C537702||juvenile polyposis syndrome 174900|C537702||bmpr1a related juvenile polyposis 174900|C537702||jip 174900|C537702||jps 174900|C537702||juvenile intestinal polyposis 174900|C537702||juvenile polyposis coli 174900|C537702||juvenile polyposis coli included 174900|C537702||juvenile polyposis infantile 174900|C537702||juvenile polyposis of infancy 174900|C537702||juvenile polyposis of stomach 174900|C537702||pji 174900|C537702||polyposis familial of entire gastrointestinal tract 174900|C537702||polyposis familial of entire gastrointestinal tract juvenile polyposis of stomach included 174900|C537702||polyposis juvenile intestinal 174900|C537702||smad4 related juvenile polyposis C567074|611535||major affective disorder 5 C567074|611535||mafd5 D048909||diabetes complications D048909||complications of diabetes mellitus D048909||diabetes complication D048909||diabetes mellitus complication D048909||diabetes mellitus complications D048909||diabetes related complication D048909||diabetes related complications D048909||diabetic complication D048909||diabetic complications C565357|605192||deafness autosomal dominant 23 C565357|605192||dfna23 C566924|611543||cavitary optic disc anomalies C565110||dermal ridges nelson syndrome C566436|610535||glaucoma 1 open angle m C566436|610535||glc1m C565115||dementia parkinsonism with non alzheimer amyloid plaques C565117||optic atrophy deafness ophthalmoplegia and myopathy C566448||microphthalmia cataracts and iris abnormalities C565118||deafness craniofacial syndrome C565112||deoxyribose 5 phosphate aldolase deficiency C565221|609820||erythrocytosis familial 3 C565221|609820||ecyt3 C566444||giant axonal neuropathy autosomal dominant C566445|D049310|160500||myopathy distal 3 D064146||chemotherapy induced febrile neutropenia D064146||chemotherapy induced febrile neutropenias D064146||drug induced febrile neutropenia D064146||drug induced febrile neutropenias D064146||febrile neutropenia chemotherapy induced D064146||febrile neutropenia drug induced D064146||febrile neutropenias chemotherapy induced D064146||febrile neutropenias drug induced D064146||neutropenia chemotherapy induced febrile D064146||neutropenia drug induced febrile D064146||neutropenias chemotherapy induced febrile D064146||neutropenias drug induced febrile D011629||puberty precocious D011629||precocious puberty D011628||puberty delayed D011628||delayed puberty D064147||febrile neutropenia D064147||febrile neutropenias D064147||neutropenia febrile D064147||neutropenias febrile C565119||deafness with anhidrotic ectodermal dysplasia D009304||nasopharyngitis D009304||nasopharyngitides D009303||nasopharyngeal neoplasms D009303||cancer nasopharyngeal D009303||cancer nasopharynx D009303||cancer of nasopharynx D009303||cancer of the nasopharynx D009303||cancers nasopharyngeal D009303||cancers nasopharynx D009303||nasopharyngeal cancer D009303||nasopharyngeal cancers D009303||nasopharyngeal neoplasm D009303||nasopharynx cancer D009303||nasopharynx cancers D009303||nasopharynx neoplasm D009303||nasopharynx neoplasms D009303||neoplasm nasopharyngeal D009303||neoplasm nasopharynx D009303||neoplasms nasopharyngeal D009303||neoplasms nasopharynx D009302||nasopharyngeal diseases D009302||disease nasopharyngeal D009302||diseases nasopharyngeal D009302||diseases of nasopharynx D009302||nasopharyngeal disease D009302||nasopharynx disease D009302||nasopharynx diseases D011625||pterygium D011625||pterygiums D029424|606963||pulmonary disease chronic obstructive D029424|606963||airflow obstruction chronic D029424|606963||airflow obstructions chronic D029424|606963||chronic airflow obstruction D029424|606963||chronic airflow obstructions D029424|606963||chronic obstructive airway disease D029424|606963||chronic obstructive lung disease D029424|606963||chronic obstructive pulmonary disease D029424|606963||coad D029424|606963||copd D029424|606963||copd severe early onset included D029424|606963||pulmonary disease chronic obstructive rate of decline of lung function in included D029424|606963||pulmonary disease chronic obstructive severe early onset included C579754||abc disease 602032||ectodermal dysplasia 4 hair nail type 602032||ectd4 602032||ectodermal dysplasia apos pure apos hair nail type C567781||bifid nose autosomal dominant C535418|607831||charcot marie tooth disease type 2k C535418|607831||charcot marie tooth disease axonal autosomal recessive type 2k C535418|607831||charcot marie tooth disease axonal type 2k C535418|607831||charcot marie tooth neuropathy axonal type 2k C535418|607831||charcot marie tooth neuropathy axonal type 2k charcot marie tooth disease autosomal dominant type 2k included C535418|607831||cmt2k C535418|607831||cmt 2k C565120||deafness sensorineural with peripheral neuropathy and arterial disease D052177||kidney diseases cystic D052177||cystic kidney D052177||cystic kidney disease D052177||cystic kidney diseases D052177||cystic kidneys D052177||cystic renal disease D052177||cystic renal diseases D052177||disease cystic kidney D052177||disease cystic renal D052177||diseases cystic kidney D052177||diseases cystic renal D052177||kidney cystic D052177||kidney disease cystic D052177||kidneys cystic D052177||renal disease cystic D052177||renal diseases cystic C566574|602111||spondyloepimetaphyseal dysplasia missouri type C566574|602111||mandp1 included C566574|602111||semd missouri type C566574|602111||semd missouri type metaphyseal anadysplasia 1 included D052178||cephalopelvic disproportion D052178||disproportion cephalopelvic 254500|D009101||multiple myeloma 254500|D009101||al amyloidosis included 254500|D009101||al included 254500|D009101||amyloidosis systemic included 254500|D009101||cell myeloma plasma 254500|D009101||cell myelomas plasma 254500|D009101||disease kahler 254500|D009101||kahler disease 254500|D009101||multiple myelomas 254500|D009101||myeloma multiple 254500|D009101||myeloma multiples 254500|D009101||myeloma plasma cell 254500|D009101||myelomas multiple 254500|D009101||myelomas plasma cell 254500|D009101||myelomatoses 254500|D009101||myelomatosis 254500|D009101||plasma cell myeloma 254500|D009101||plasma cell myelomas D007184|308300||incontinentia pigmenti D007184|308300||bloch siemens sulzberger syndrome D007184|308300||bloch siemens syndrome D007184|308300||bloch sulzberger syndrome D007184|308300|C531716||incontinentia pigmenti familial male lethal type D007184|308300||incontinentia pigmenti type ii formerly D007184|308300||ip D007184|308300||ip2 formerly D007184|308300||syndrome bloch sulzberger C567745||epilepsy benign neonatal 1 atypical severe C567744||convulsions benign familial neonatal 1 and or myokymia C567746||convulsions benign familial neonatal 1 atypical severe C567743||epilepsy benign neonatal 1 and or myokymia C566417||endotoxin hyporesponsiveness C567217|612639||inflammatory bowel disease 26 C567217|612639||ibd26 145650|C564154||thyroid hormone resistance selective pituitary 145650|C564154||hyperthyroidism familial due to inappropriate thyrotropin secretion 145650|C564154||prth 602025||body mass index quantitative trait locus 9 602025||bmiq9 D018979|147421||myositis inclusion body D018979|147421||ibm D018979|147421||inclusion body myopathy sporadic D018979|147421||inclusion body myositides D018979|147421||inclusion body myositis D018979|147421||inclusion body myositis sporadic D018979|147421||myopathy inclusion body sporadic D018979|147421||myositides inclusion body D018979|147421||myositis inclusion body sporadic D018979|147421||sporadic inclusion body myositis C538348|609284||nemaline myopathy 1 C538348|609284||capm1 included C538348|609284||cap myopathy 1 included C538348|609284||cap myopathy tpm3 related C538348|609284||nem1 C538348|609284||nemaline myopathy caused by mutation in the tropomyosin 3 gene C567752||hemophagocytic lymphohistiocytosis familial 5 C567752||fhl5 208050|C565942||arterial tortuosity syndrome 208050|C565942||arterial tortuosity C537688|610188||joubert syndrome 5 C537688|610188||jbts5 C566422||peroxisome biogenesis disorder complementation group 7 C566422||peroxisome biogenesis disorder complementation group b D005166|227400||factor v deficiency D005166|227400||deficiencies factor v D005166|227400||deficiencies labile factor D005166|227400||deficiency factor v D005166|227400||deficiency labile factor D005166|227400||disease owren D005166|227400||disease owren apos s D005166|227400||factor v deficiencies D005166|227400||labile factor deficiencies D005166|227400||labile factor deficiency D005166|227400||owren disease D005166|227400||owren parahemophilia D005166|227400||owren apos s disease D005166|227400||owrens disease D005166|227400||parahemophilia D005166|227400||parahemophilia owren D005166|227400||parahemophilias C566428||renal tubular acidosis distal autosomal recessive with late onset sensorineural hearing loss 194080|D030321||denys drash syndrome 194080|D030321|304700|C535808||dds 194080|D030321||drash syndrome 194080|D030321||nephropathy wilms tumor and genital anomalies 194080|D030321||pseudohermaphroditism nephron disorder and wilms apos tumor 194080|D030321||syndrome denys drash 194080|D030321||syndrome drash 194080|D030321||wilms tumor and pseudohermaphroditism 194080|D030321||wilms tumor and pseudo or true hermaphroditism C567759||achromatopsia 5 D011602||psychophysiologic disorders D011602||psychophysiological disorder D011602||psychophysiological disorders D011602||psychophysiologic disorder D011602||psychosomatic disorder D011602||psychosomatic disorders D011605||psychoses substance induced D011605||drug psychoses D011605||psychoses drug D011605||psychoses toxic D011605||substance induced psychoses D011605||toxic psychoses D011604||psychoses alcoholic D011604||alcoholic psychoses C567683|613252||cardiomyopathy dilated 1ee C567683|613252||cmd1ee C564835|268100||enhanced s cone syndrome C564835|268100||escs C564835|268100||favre hyaloideoretinal degeneration C564835|268100||favre hyaloideoretinal degeneration included C564835|268100||goldmann favre syndrome C564835|268100||goldmann favre syndrome included C564835|268100||retinoschisis with early hemeralopia C564835|268100||retinoschisis with early hemeralopia included C536430|216360||coach syndrome C536430|216360||cerebellar vermis hypo aplasia oligophrenia ataxia congenital coloboma and hepatic fibrosis C536430|216360||cerebellar vermis hypo aplasia oligophrenia congenital ataxia ocular coloboma and hepatic fibrosis C536430|216360||joubert syndrome with congenital hepatic fibrosis D048949||labor pain D048949||obstetric pain D048949||pain labor D048949||pain obstetric C567727||walker warburg syndrome fktn related C567727||muscular dystrophy due to defective glycosylation of dystroglycan 4a C543759||juvenile onset scleroderma C543759||juvenile scleroderma C543758||juvenile linear scleroderma D012909||snake bites D012909||bite snake D012909||bites snake D012909||envenomation snake D012909||envenomations snake D012909||snakebite D012909||snake bite D012909||snakebites D012909||snake envenomation D012909||snake envenomations C531767||edema of the optic disc C531768||colangite esclerosante porracoccidiodomicose 605990||nephrolithiasis uric acid susceptibility to 605990||uan 605990||urolithiasis uric acid susceptibility to C537849|310600||norrie disease C537849|310600||anderson warburg syndrome C537849|310600||atrophia bulborum hereditaria C537849|310600||congenital progressive oculo acoustico cerebral degeneration C537849|310600||episkopi blindness C537849|310600||fetal iritis syndrome C537849|310600||nd C537849|310600||norrie apos s disease C537849|310600||norrie syndrome C537849|310600||norrie warburg syndrome C537849|310600||oligophrenia microphthalmus C537849|310600||pseudoglioma C537849|310600||pseudoglioma congenita C537849|310600||whitnall norman syndrome 144150|C538377||hyperkeratosis lenticularis perstans 144150|C538377||flegel disease 144150|C538377||flegel apos s disease 144150|C538377||hlp 144150|C538377||hyperkeratosis lenticularis perstans of flegel C531760||oro facial gangrene C531760||noma neonatorum C531760||oral gangrene C531760||oro facial noma C531762||alkaptonuric ochronosis C531762||exogenous ochronosis C531762||ocular ochronosis C531762||pseudo ochronosis C565192|610717||neutral lipid storage disease with myopathy C565192|610717||neutral lipid storage disease without ichthyosis C565192|610717||nlsdm C535302|302801||charcot marie tooth disease x linked recessive 2 C535302|302801||charcot marie tooth neuropathy x linked recessive 2 C535302|302801||cmtx2 C531766||inflammation of the whole uveal tract C566402||methylmalonate semialdehyde dehydrogenase deficiency C566402||mmsdh deficiency D015192||infratentorial neoplasms D015192||benign infratentorial neoplasm D015192||benign infratentorial neoplasms D015192||cancer infratentorial D015192||cancers infratentorial D015192||infratentorial cancer D015192||infratentorial cancers D015192||infratentorial neoplasm D015192||infratentorial neoplasm benign D015192||infratentorial neoplasm malignant D015192||infratentorial neoplasms benign D015192||infratentorial neoplasms malignant D015192||infratentorial tumor D015192||infratentorial tumors D015192||malignant infratentorial neoplasm D015192||malignant infratentorial neoplasms D015192||neoplasm benign infratentorial D015192||neoplasm infratentorial D015192||neoplasm malignant infratentorial D015192||neoplasm posterior fossa D015192||neoplasms benign infratentorial D015192||neoplasms infratentorial D015192||neoplasms malignant infratentorial D015192||neoplasms posterior fossa D015192||posterior fossa neoplasm D015192||posterior fossa neoplasms D015192||posterior fossa tumor D015192||posterior fossa tumors D015192||tumor infratentorial D015192||tumor posterior fossa D015192||tumors infratentorial D015192||tumors posterior fossa C565712|610163||immunodeficiency due to defect in cd3 zeta C566405||peroxisome biogenesis disorder complementation group 12 C536725|135500||zimmerman laband syndrome C536725|135500||fibromatosis gingival with abnormal fingers fingernails nose and ears and splenomegaly C536725|135500||laband syndrome C536725|135500||zimmermann laband syndrome C536725|135500||zls C567731||hydrops fetalis nonimmune with gracile bones and dysmorphic features C567340|612350||spondylocheirodysplasia ehlers danlos syndrome like C567340|612350||scdeds C567340|612350||scd eds C566406||peroxisome biogenesis disorder complementation group g C565081|127100||dwarfism levi type C565081|127100||snub nosed type of dwarfism C566408||dislocated elbows bowed tibias scoliosis deafness cataract microcephaly and mental retardation C566409||spastic paraplegia optic atrophy microcephaly and xy sex reversal 255500|C567606||myopia 18 autosomal recessive 255500|C567606||myopia 18 255500|C567606||myp18 D012913||snoring D012913||snorings 611152|C567000||alzheimer disease 13 611152|C567000||ad13 D012912||sneezing D012912||sneezings D059607||polydipsia psychogenic D059607||polydipsia primary D059607||polydipsias primary D059607||polydipsias psychogenic D059607||primary polydipsia D059607||primary polydipsias D059607||psychogenic polydipsia D059607||psychogenic polydipsias D059606||polydipsia D059606||polydipsias D059608||laryngocele D059608||laryngoceles C531774||familial pars planitis C564502|300504||mental retardation x linked 52 C564502|300504||mrx52 C531777||islet cell tumor syndrome C531777||bilateral pheochromocytoma and islet cell adenoma of the pancreas C531777||chromaffinoma C531777||familial islet cell tumors C531777||familial pheochromocytoma D015163||superinfection D015163||microbial superinvasion D015163||microbial superinvasions D015163||superinfections D015163||superinvasion microbial D015163||superinvasions microbial D015161||dementia multi infarct D015161||dementia lacunar D015161||dementia multiinfarct D015161||dementia multi infarcts D015161||dementias lacunar D015161||dementias multiinfarct D015161||dementias multi infarct D015161||lacunar dementia D015161||lacunar dementias D015161||multiinfarct dementia D015161||multi infarct dementia D015161||multiinfarct dementias D015161||multi infarct dementias D015161||multi infarcts dementia D016491||peripheral vascular diseases D016491||angiopathies peripheral D016491||angiopathy peripheral D016491||disease peripheral vascular D016491||diseases peripheral vascular D016491||peripheral angiopathies D016491||peripheral angiopathy D016491||peripheral vascular disease D016491||vascular disease peripheral D016491||vascular diseases peripheral D006526|609532||hepatitis c D006526|609532||hcv resistance to included D006526|609532||hcv susceptibility to hepatitis c virus resistance to included D006526|609532||hepatitis c virus infection response to therapy of included D006526|609532||hepatitis c virus susceptibility to D006526|609532||hepatitis viral non a non b parenterally transmitted D006526|609532||parenterally transmitted non a non b hepatitis D006526|609532||pt nanbh C535743|608799||congenital disorder of glycosylation type 1e C535743|608799||cdg1e C535743|608799||cdgie C535743|608799||cdg ie C535743|608799||congenital disorder of glycosylation type ie D060605||hyalohyphomycosis D060605||cutaneous hyalohyphomycoses D060605||cutaneous hyalohyphomycosis D060605||disseminated hyalohyphomycoses D060605||disseminated hyalohyphomycosis D060605||hyalohyphomycoses D060605||hyalohyphomycoses cutaneous D060605||hyalohyphomycoses disseminated D060605||hyalohyphomycoses invasive D060605||hyalohyphomycoses pulmonary D060605||hyalohyphomycoses splenic D060605||hyalohyphomycoses subcutaneous D060605||hyalohyphomycosis cutaneous D060605||hyalohyphomycosis disseminated D060605||hyalohyphomycosis invasive D060605||hyalohyphomycosis pulmonary D060605||hyalohyphomycosis splenic D060605||hyalohyphomycosis subcutaneous D060605||invasive hyalohyphomycoses D060605||invasive hyalohyphomycosis D060605||pulmonary hyalohyphomycoses D060605||pulmonary hyalohyphomycosis D060605||splenic hyalohyphomycoses D060605||splenic hyalohyphomycosis D060605||subcutaneous hyalohyphomycoses D060605||subcutaneous hyalohyphomycosis D048968||morning sickness D048968||sickness morning C567705||chromosome 17p13 3 duplication syndrome C567704|613216||csnb1c C567704|613216||night blindness congenital stationary type 1c C565158|121400||cornea plana 1 C565158|121400||cna1 C567504|611884||ciliary dyskinesia primary 7 C567504|611884||cild7 C567504|611884||ciliary dyskinesia primary 7 with or without situs inversus 136760||frontonasal dysplasia 1 136760||fnd 136760||fnd1 136760||fnm D016489||head injuries closed D016489||blunt head injuries D016489||blunt head injury D016489||closed head injuries D016489||closed head injury D016489||closed head trauma D016489||closed head traumas D016489||head injuries blunt D016489||head injuries nonpenetrating D016489||head injury blunt D016489||head injury closed D016489||head injury nonpenetrating D016489||head trauma closed D016489||head traumas closed D016489||injuries closed head D016489||nonpenetrating head injuries D016489||nonpenetrating head injury D016489||trauma closed head D016489||traumas closed head C531782||endemic treponematosis caused by treponema carateum D015155||esophageal spasm diffuse D015155||diffuse esophageal spasm D015155||diffuse esophageal spasms D015155||esophageal spasm D015155||esophageal spasms D015155||esophageal spasms diffuse D015155||spasm diffuse esophageal D015155||spasm esophageal D015155||spasms diffuse esophageal D015155||spasms esophageal D014901|610379||west nile fever D014901|610379||encephalitis west nile fever D014901|610379||west nile fever encephalitis D014901|610379||west nile fever meningitis D014901|610379||west nile fever meningoencephalitis D014901|610379||west nile fever myelitis D014901|610379||west nile virus susceptibility to D014901|610379||wnv susceptibility to C531783||hip socket neuropathy C531783||deep gluteal syndrome C531783||pseudosciatica C531783||wallet sciatica D015154||esophageal motility disorders D015154||disorder esophageal motility D015154||disorders esophageal motility D015154||dysmotilities esophageal D015154||dysmotility esophageal D015154||esophageal dysmotilities D015154||esophageal dysmotility D015154||esophageal motility disorder D015154||esophagus nutcracker D015154||motility disorder esophageal D015154||motility disorders esophageal D015154||nutcracker esophagus C531784||familial pityriasis rubra pilaris C531784||pityriasis rubra pilaris familial type 613024|D008224||lymphoma follicular 613024|D008224||brill symmers disease 613024|D008224||disease brill symmers 613024|D008224||fl1 613024|D008224||follicular large cell lymphoma 613024|D008224||follicular large cell lymphomas 613024|D008224||follicular lymphoma 613024|D008224||follicular lymphoma giant 613024|D008224||follicular lymphoma grade 1 613024|D008224||follicular lymphoma grade 2 613024|D008224||follicular lymphoma grade 3 613024|D008224||follicular lymphomas 613024|D008224||follicular lymphomas giant 613024|D008224||follicular lymphoma susceptibility to 1 613024|D008224||follicular mixed cell lymphoma 613024|D008224||follicular mixed cell lymphomas 613024|D008224||giant follicular lymphoma 613024|D008224||giant follicular lymphomas 613024|D008224||histiocytic lymphoma nodular 613024|D008224||histiocytic lymphomas nodular 613024|D008224||large cell lymphoma follicular 613024|D008224||large cell lymphomas follicular 613024|D008224||large lymphoid lymphoma nodular 613024|D008224||lymphocytic lymphoma nodular poorly differentiated 613024|D008224||lymphoma follicular grade 1 613024|D008224||lymphoma follicular grade 2 613024|D008224||lymphoma follicular grade 3 613024|D008224||lymphoma follicular large cell 613024|D008224||lymphoma follicular mixed cell 613024|D008224||lymphoma follicular mixed lymphocytic histiocytic 613024|D008224||lymphoma follicular mixed small and large lymphoid 613024|D008224||lymphoma follicular small and large cleaved cell 613024|D008224||lymphoma giant follicular 613024|D008224||lymphoma histiocytic nodular 613024|D008224||lymphoma large cell follicular 613024|D008224||lymphoma large lymphoid nodular 613024|D008224||lymphoma lymphocytic nodular poorly differentiated 613024|D008224||lymphoma mixed cell follicular 613024|D008224||lymphoma nodular 613024|D008224||lymphoma nodular histiocytic 613024|D008224||lymphoma nodular large follicular center cell 613024|D008224||lymphoma nodular mixed lymphocytic histiocytic 613024|D008224||lymphoma nodular mixed small and large cell 613024|D008224||lymphomas follicular 613024|D008224||lymphomas follicular large cell 613024|D008224||lymphomas follicular mixed cell 613024|D008224||lymphomas giant follicular 613024|D008224||lymphoma small cleaved cell follicular 613024|D008224||lymphoma small follicular center cell 613024|D008224||lymphoma small lymphoid follicular 613024|D008224||lymphomas nodular 613024|D008224||lymphomas nodular histiocytic 613024|D008224||mixed cell lymphoma follicular 613024|D008224||mixed cell lymphomas follicular 613024|D008224||nodular histiocytic lymphoma 613024|D008224||nodular histiocytic lymphomas 613024|D008224||nodular large follicular center cell lymphoma 613024|D008224||nodular lymphoma 613024|D008224||nodular lymphomas 613024|D008224||small cleaved cell lymphoma follicular 613024|D008224||small follicular center cell lymphoma C563352|601318||diabetes mellitus insulin dependent 13 C563352|601318||iddm13 C563352|601318||insulin dependent diabetes mellitus 13 C567712||retinitis pigmentosa concentric C535343|605387||cataract posterior polar 3 C535343|605387||cataract 31 multiple types C535343|605387||cpp3 C535343|605387||ctpp3 C535343|605387||ctrct31 C566987|611182||congenital disorder of glycosylation type iih C566987|611182||cdg2h C566987|611182||cdg iih C566987|611182||cdgiih C566987|611182||cdg iiih C563240|606215||atrioventricular canal defect C563240|606215|C562831||atrioventricular septal defect C563240|606215||avcd C563240|606215||avc defect C563240|606215||avsd C563240|606215||avsd1 included C563240|606215||endocardial cushion defect ecd atrioventricular septal defect susceptibility to 1 included D015174||epidural neoplasms D015174||epidural neoplasm D015174||epidural neoplasm malignant D015174||epidural neoplasms malignant D015174||epidural tumor D015174||epidural tumors D015174||malignant epidural neoplasm D015174||malignant epidural neoplasms D015174||neoplasms epidural D015173||supratentorial neoplasms D015173||benign supratentorial neoplasm D015173||benign supratentorial neoplasms D015173||cancers supratentorial D015173||cancer supratentorial D015173||malignant supratentorial neoplasm D015173||malignant supratentorial neoplasms D015173||neoplasm benign supratentorial D015173||neoplasm malignant supratentorial D015173||neoplasm primary supratentorial D015173||neoplasms benign supratentorial D015173||neoplasms malignant supratentorial D015173||neoplasms primary supratentorial D015173||neoplasms supratentorial D015173||neoplasm supratentorial D015173||primary supratentorial neoplasm D015173||primary supratentorial neoplasms D015173||supratentorial cancer D015173||supratentorial cancers D015173||supratentorial neoplasm D015173||supratentorial neoplasm benign D015173||supratentorial neoplasm malignant D015173||supratentorial neoplasm primary D015173||supratentorial neoplasms benign D015173||supratentorial neoplasms malignant D015173||supratentorial neoplasms primary D015173||supratentorial tumor D015173||supratentorial tumors D015173||tumors supratentorial D015173||tumor supratentorial 180020|C566719||retinal cone dystrophy 1 180020|C566719||cone dystrophy autosomal dominant 180020|C566719||rcd1 180020|C566719||retinal cone degeneration C563832|608930||myasthenic syndrome congenital fast channel C563832|608930||fccms C562419|110100||blepharophimosis ptosis and epicanthus inversus C562419|110100||blepharophimosis ptosis and epicanthus inversus syndrome C562419|110100||blepharophimosis ptosis and epicanthus inversus type i C562419|110100||blepharophimosis ptosis and epicanthus inversus type ii C562419|110100||blepharophimosis syndrome C562419|110100||bpes C562419|110100||bpes type i autosomal recessive included C562419|110100||bpes type ii included C562419|110100||bpes type i included C562419|110100||bpes with duane retraction syndrome included C562419|110100||bpes without ovarian failure included C562419|110100||bpes with ovarian failure included C537943|609528||cerebral dysgenesis neuropathy ichthyosis and palmoplantar keratoderma syndrome C537943|609528||cednik syndrome C567717||chromosome 5p13 duplication syndrome C567815|613011||lymphoproliferative syndrome ebv associated autosomal 1 C567815|613011||lpfs1 C567815|613011||lymphoproliferative syndrome 1 D003193||compulsive personality disorder D003193||compulsive personalities D003193||compulsive personality D003193||compulsive personality disorders D003193||disorder compulsive personality D003193||disorders compulsive personality D003193||obsessive compulsive personalities D003193||obsessive compulsive personality D003193||personalities compulsive D003193||personalities obsessive compulsive D003193||personality compulsive D003193||personality disorder compulsive D003193||personality disorders compulsive D003193||personality obsessive compulsive D015168||lightning injuries D015168||injuries lightning D015168||injury lightning D015168||lightning injury D015168||lightning stroke D015168||lightning strokes D015168||stroke lightning D015168||strokes lightning C531795||idiopathic intracranial hypertension with papilledema C535547|156232||kantaputra gorlin syndrome C535547|156232||mdk C535547|156232||mesomelic dysplasia kantaputra type C535547|156232||mesomelic dysplasia thai type C535547|156232||mesomelic dysplasia with ankle carpal and tarsal synostosis C535547|156232||mmdk 600002|C564010||eiken skeletal dysplasia 600002|C564010||bone modeling defect of hands and feet C537883|268210||rhabdomyosarcoma 1 C537883|268210||rhabdomyosarcoma chromosomal region C537883|268210||rhabdomyosarcoma embryonal 1 C537883|268210||rms1 C537883|268210||rmscr C537883|268210||rmse1 122000|C562745||corneal dystrophy posterior polymorphous 1 122000|C562745||corneal dystrophy hereditary polymorphous posterior 122000|C562745||posterior polymorphous corneal dystrophy 122000|C562745||ppcd 122000|C562745||ppcd1 D016470||bacteremia D016470||bacteremias D016472||motor neuron disease D016472||anterior horn cell disease D016472||familial motor neuron disease D016472||lateral scleroses D016472||lateral scleroses primary D016472||lateral sclerosis D016472||lateral sclerosis primary D016472||lower motor neuron disease D016472||motor neuron disease familial D016472||motor neuron disease lower D016472||motor neuron diseases D016472||motor neuron disease secondary D016472||motor neuron disease upper D016472||motor system disease D016472||motor system diseases D016472||neuron disease motor D016472||neuron diseases motor D016472||primary lateral scleroses D016472||primary lateral sclerosis D016472||scleroses lateral D016472||scleroses primary lateral D016472||sclerosis lateral D016472||sclerosis primary lateral D016472||secondary motor neuron disease D016472||upper motor neuron disease 129600||ectopia lentis 1 isolated autosomal dominant 129600||ectol1 D015140||dementia vascular D015140||acute onset vascular dementia D015140||arteriosclerotic dementia D015140||arteriosclerotic dementias D015140||arteriosclerotic encephalopathies subcortical D015140||arteriosclerotic encephalopathy subcortical D015140||binswanger disease D015140||binswanger encephalopathy D015140||binswanger apos s disease D015140||binswangers disease D015140||binswanger apos s encephalopathy D015140||chronic progressive subcortical encephalopathy D015140||dementia arteriosclerotic D015140||dementias arteriosclerotic D015140||dementias subcortical vascular D015140||dementia subcortical vascular D015140||dementias vascular D015140||disease binswanger D015140||disease binswanger apos s D015140||encephalopathies subcortical arteriosclerotic D015140||encephalopathy binswanger D015140||encephalopathy binswangers D015140||encephalopathy binswanger apos s D015140||encephalopathy chronic progressive subcortical D015140||encephalopathy subcortical arteriosclerotic D015140||encephalopathy subcortical chronic progressive D015140||leukoencephalopathies subcortical D015140||leukoencephalopathy subcortical D015140||subcortical arteriosclerotic encephalopathies D015140||subcortical arteriosclerotic encephalopathy D015140||subcortical encephalopathy chronic progressive D015140||subcortical leukoencephalopathies D015140||subcortical leukoencephalopathy D015140||subcortical vascular dementia D015140||subcortical vascular dementias D015140||vascular dementia D015140||vascular dementia acute onset D015140||vascular dementias D015140||vascular dementias subcortical D015140||vascular dementia subcortical D004489||edema cardiac D004489||cardiac edema D004489||cardiac edemas D004489||edemas cardiac D004488||edema disease of swine D004488||swine edema disease D004488||swine edema diseases 184450|D013342||stuttering familial persistent 1 184450|D013342||stammering 184450||stut1 D004485||eczema D004485||dermatitides eczematous D004485||dermatitis eczematous D004485||eczemas D004485||eczematous dermatitides D004485||eczematous dermatitis D004487||edema D004487||anasarca D004487||dropsy D004487||hydrops D003161||compartment syndromes D003161||compartment syndrome D003161||syndrome compartment D003161||syndromes compartment D050030|170390||andersen syndrome D050030|170390||andersen cardiodysrhythmic periodic paralysis D050030|170390||andersen cardiodysrythmic periodic paralysis D050030|170390||andersen tawil syndrome D050030|170390||long qt syndrome 7 D050030|170390||lqt7 D050030|170390||periodic paralysis potassium sensitive cardiodysrhythmic type D050030|170390||potassium sensitive periodic paralysis ventricular ectopy and dysmorphic features D050030|170390||syndrome andersen D050030|170390||syndrome andersen tawil C531728||canicola fever C531728||cane cutter fever C531728||mud fever C531728||rice field fever C531728||stuttgart disease C531728||swineherd apos s disease C531729||autoimmune limbic encephalitis D016469||fungemia D016469||fungemias D016463||sweet syndrome D016463||acute febrile neutrophilic dermatosis D016463||dermatosis neutrophilic febrile acute D016463||disease gomm button D016463||gomm button disease D016463||neutrophilic dermatosis acute febrile D016463||sweet apos s syndrome D016463||sweets syndrome D016463||syndrome sweet D016463||syndrome sweet apos s D016464||lysosomal storage diseases D016464||disease lysosomal storage D016464||diseases lysosomal storage D016464||disorder lysosomal enzyme D016464||disorders lysosomal enzyme D016464||enzyme disorder lysosomal D016464||enzyme disorders lysosomal D016464||lysosomal enzyme disorder D016464||lysosomal enzyme disorders D016464||lysosomal storage disease C531720||noninflammatory corneal thinning D016483||lymphoma aids related D016483||aids associated lymphoma D016483||aids associated lymphomas D016483||aids related lymphoma D016483||aids related lymphomas D016483||hiv related lymphoma D016483||hiv related lymphomas D016483||lymphoma aids associated D016483||lymphoma hiv related D016483||lymphomas aids associated D016483||lymphomas aids related D016483||lymphomas hiv related 205700|D000744||anemia hemolytic autoimmune 205700|D000744||acquired autoimmune hemolytic anemia 205700|D000744||agglutinin disease cold 205700|D000744||agglutinin diseases cold 205700|D000744||anemia autoimmune hemolytic 205700|D000744||anemia hemolytic cold antibody 205700|D000744||anemia hemolytic idiopathic acquired 205700|D000744||anemias autoimmune hemolytic 205700|D000744||autoimmune hemolytic anemia 205700|D000744||autoimmune hemolytic anemias 205700|D000744||cold agglutinin disease 205700|D000744||cold agglutinin diseases 205700|D000744||cold antibody disease 205700|D000744||cold antibody diseases 205700|D000744||cold antibody hemolytic anemia 205700|D000744||disease cold agglutinin 205700|D000744||disease cold antibody 205700|D000744||diseases cold agglutinin 205700|D000744||diseases cold antibody 205700|D000744||hemolytic anemia autoimmune 205700|D000744||hemolytic anemias autoimmune 205700|D000744||idiopathic autoimmune hemolytic anemia 611812||46 xx sex reversal with dysgenesis of kidneys adrenals and lungs 611812|C567517||serkal 611812|C567517||serkal syndrome 116920|C535887||leukocyte adhesion deficiency type 1 116920|C535887||lad 116920|C535887||lad1 116920|C535887||leukocyte adhesion deficiency type i 116920|C535887||lfa1 immunodeficiency 116920|C535887||lymphocyte function associated antigen 1 immunodeficiency C567713|613193||ciliary dyskinesia primary 13 C567713|613193||cild13 C567713|613193||ciliary dyskinesia primary 13 with or without situs inversus C531735||congenital macroglossia C531735||enlarged tongue C531735||giant tongue C531736||acute malaria C531736||chronic malaria C531737||malignant fever C531737||fulminating hyperpyrexia C531737||pharmacogenic myopathy D010580|175200||peutz jeghers syndrome D010580|175200||hamartomatous intestinal polyposes D010580|175200||hamartomatous intestinal polyposis D010580|175200||intestinal polyposes hamartomatous D010580|175200||intestinal polyposis hamartomatous D010580|175200||lentiginoses perioral D010580|175200||lentiginosis perioral D010580|175200||perioral lentiginoses D010580|175200||perioral lentiginosis D010580|175200||periorificial lentiginosis syndrome D010580|175200||periorificial lentiginosis syndromes D010580|175200||peutz jeghers polyposis D010580|175200||peutz jegher apos s syndrome D010580|175200||peutz jegher syndrome D010580|175200||pjs D010580|175200||polyposes hamartomatous intestinal D010580|175200||polyposis hamartomatous intestinal D010580|175200||polyposis peutz jeghers D010580|175200||polyps and spots syndrome D010580|175200||polyps and spots syndromes D010580|175200||syndrome periorificial lentiginosis D010580|175200||syndrome peutz jeghers D010580|175200||syndrome peutz jegher apos s D010580|175200||syndrome polyps and spots D010580|175200||syndromes periorificial lentiginosis D010580|175200||syndromes polyps and spots C564908|260370||pancreatic agenesis congenital C564908|260370||pagen C564908|260370||pancreatic hypoplasia congenital C531731||lissencephaly and agenesis of corpus callosum C531731||subcortical laminar heterotopia x linked C537581|606996||senior loken syndrome 4 C537581|606996||slsn4 C531732||ascending aortic aneurysm hypertelorism bifid uvula cleft palate and arterial tortuosity D003139||common cold D003139||acute coryza D003139||catarrh D003139||catarrhs D003139||cold common D003139||colds common D003139||common colds D003139||coryza acute C567698|608194||cone rod dystrophy 13 C567698|608194||cord13 611809||bestrophinopathy autosomal recessive 611809||arb 217000||complement component 2 deficiency 217000||c2d 217000||c2 deficiency D003137||common bile duct diseases C566901|611634||febrile convulsions familial 9 C566901|611634||feb9 C566901|611634||febrile seizures familial 9 C538603|242100||ichthyosiform erythroderma brocq congenital nonbullous form C538603|242100||arci2 C538603|242100||ichthyosiform erythroderma brocq congenital nonbullous form formerly C538603|242100||ichthyosiform erythroderma congenital nonbullous 1 C538603|242100||ichthyosiform erythroderma nonbullous congenital 1 formerly C538603|242100||ichthyosis congenital autosomal recessive 2 C538603|242100||ncie1 formerly C538603|242100||nonbullous congenital ichthyosiform erythroderma 1 D003138||common bile duct neoplasms C563206|274500||thyroid dyshormonogenesis 2a C563206|274500||hypothyroidism congenital due to dyshormonogenesis 2a C563206|274500||iodide peroxidase deficiency C563206|274500||tdh2a C563206|274500||thyroid hormonogenesis genetic defect in 2a C563206|274500||thyroid peroxidase deficiency C531747||congenital facial diplegia C531747||facial diplegia congenital D003141||communicable diseases D003141||communicable disease D003141||disease communicable D003141||disease infectious D003141||diseases communicable D003141||diseases infectious D003141||infectious disease D003141||infectious diseases 612586|C567238||aneurysm intracranial berry 9 612586|C567238||anib9 D017772||amyloid neuropathies D017772||amyloid neuropathies secondary D017772||amyloid neuropathy D017772||amyloid neuropathy secondary D017772||amyloid polyneuropathies D017772||amyloid polyneuropathy D017772||neuropathies amyloid D017772||neuropathies secondary amyloid D017772||neuropathy amyloid D017772||neuropathy secondary amyloid D017772||polyneuropathies amyloid D017772||polyneuropathy amyloid D017772||secondary amyloid neuropathies D017772||secondary amyloid neuropathy D017119|176100||porphyria cutanea tarda D017119|176100||hep included D017119|176100||pct D017119|176100||pct apos familial apos type D017119|176100||pct type ii D017119|176100||porphyria cutanea tarda type ii D017119|176100||porphyria hepatocutaneous type D017119|176100||urod deficiency porphyria hepatoerythropoietic included D017119|176100||uroporphyrinogen decarboxylase deficiency C531742||marfanoid hypermobility syndrome C531742||contractural arachnodactyly C531742||marfan syndrome type 1 C531743||cystic dilatation of renal collecting tubes C536590|265380||alveolar capillary dysplasia C536590|265380|D010547||acdmpv C536590|265380|D010547||alveolar capillary dysplasia with misalignment of pulmonary veins C536590|265380|D010547||alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies C536590|265380||congenital alveolar capillary dysplasia 115196|C566170||cardiomyopathy familial hypertrophic 3 115196|C566170||cmh3 D047688||breast cyst D047688||breast cysts D047688||cyst breast D047688||cysts breast D016460||granuloma annulare 203650|C565965||alopecia mental retardation syndrome 1 203650|C565965||amr syndrome 203650|C565965||apmr1 D046350||porphyria variegate D046350||deficiencies protoporphyrinogen oxidase D046350|C538659|176200||porphyria variegata D046350||porphyria variegates D046350||ppox deficiency D046350|C538659|176200||protoporphyrinogen oxidase deficiency D046350|C538659|176200||variegate porphyria D046350||variegates porphyria D004478||ectoparasitic infestations D004478||ectoparasitic infestation D004478||infestation ectoparasitic D004478||infestations ectoparasitic D003147||communication disorders D003147||acquired communication disorder D003147||acquired communication disorders D003147||childhood communication disorder D003147||childhood communication disorders D003147||communication disabilities D003147||communication disability D003147||communication disorder D003147||communication disorder acquired D003147||communication disorder childhood D003147||communication disorder developmental D003147||communication disorder neurogenic D003147||communication disorders acquired D003147||communication disorders childhood D003147||communication disorders developmental D003147||communication disorders neurogenic D003147||communicative disorder D003147||communicative disorders D003147||communicative dysfunction D003147||communicative dysfunctions D003147||developmental communication disorder D003147||developmental communication disorders D003147||disabilities communication D003147||disability communication D003147||dysfunction communicative D003147||dysfunctions communicative D003147||neurogenic communication disorder D003147||neurogenic communication disorders D004479||ectopia lentis D004479||lentis ectopia D004474||ecthyma contagious D004474||contagious ecthyma D004474||contagious pustular dermatitides D004474||contagious pustular dermatitis D004474||dermatitides contagious pustular D004474||dermatitis contagious pustular D004474||orf D004474||pustular dermatitides contagious D004474||pustular dermatitis contagious D004473||ecthyma D004473||ecthymas D005923|603278||glomerulosclerosis focal segmental D005923|603278||focal glomerulosclerosis D005923|603278||focal sclerosing glomerulonephritides D005923|603278||focal sclerosing glomerulonephritis D005923|603278||focal segmental glomerulosclerosis D005923|603278|C538457||focal segmental glomerulosclerosis 1 D005923|603278||focal segmental glomerulosclerosis 3 susceptibility to D005923|603278|C538457||fsgs1 D005923|603278||fsgs3 D005923|603278||glomerular hyalinosis segmental D005923|603278||glomerulonephritides focal sclerosing D005923|603278||glomerulonephritis focal sclerosing D005923|603278||glomerulosclerosis focal D005923|603278|C538457||glomerulosclerosis focal segmental 1 D005923|603278||glomerulosclerosis focal segmental 3 susceptibility to D005923|603278||hyalinosis segmental D005923|603278||hyalinosis segmental glomerular D005923|603278||sclerosing glomerulonephritides focal D005923|603278||sclerosing glomerulonephritis focal D005923|603278||segmental glomerular hyalinosis D005923|603278||segmental glomerulosclerosis focal D005923|603278||segmental hyalinosis 602092||deafness autosomal recessive 18a 602092|C566580||deafness autosomal recessive 18 602092|C566580||dfnb18 602092||dfnb18a D004480||ectromelia D004480||amelia D004480||hemimelia D004480||phocomelia D004480||sirenomelia D004483||ectropion D004483||ectropions D004482||ectromelia infectious D004482||infectious ectromelia D004482||mousepox D004482||mouse pox C566293|104510||amelogenesis imperfecta type iv C566293|104510||ai4 C566293|104510||aihht C566293|104510||amelogenesis imperfecta hypomaturation hypoplastic type with taurodontism C563985|606719||melanoma pancreatic cancer syndrome C563985|606719||familial atypical multiple mole melanoma pancreatic carcinoma syndrome C563985|606719||fammmpc C563985|606719||fammmpc syndrome D017789||granuloma pyogenic D017789||angiogranuloma D017789||angiogranulomas D017789||capillary hemangioma lobular D017789||granuloma pyogenicum D017789||granuloma telangiecticum D017789||hemangioma lobular capillary D017789||lobular capillary hemangioma D017789||pyogenic granuloma D016459||prosthesis related infections D016459||infections prosthesis related D016459||prosthesis related infection C531754||ridges off the end syndrome C531754||dermal ridges off the end C531755||kidney disorder involving deposition of calcium and oxalate or phosphate in the renal tubules C563627|151210||platyspondylic lethal skeletal dysplasia torrance type C563627|151210||lethal short limbed platyspondylic dwarfism torrance type C563627|151210||platyspondylic chondrodysplasia torrance luton type C563627|151210||platyspondylic lethal skeletal dysplasia luton type C563627|151210||platyspondylic skeletal dysplasia torrance type C563627|151210||plsdl included C563627|151210||plsdt C563627|151210||plsd t C563627|151210||plsd tl C563627|151210||thanatophoric dysplasia luton variant C563627|151210||thanatophoric dysplasia luton variant included C563627|151210||thanatophoric dysplasia torrance variant C563627|151210||thanatophoric dysplasia torrance variant platyspondylic lethal skeletal dysplasia luton type included C535294||reardon hall slaney syndrome C535293||reactive angioendotheliomatosis C535296||recombinant chromosome 8 syndrome C535296||rec 8 syndrome C535296||recombinant 8 syndrome C535296||san luis valley recombinant chromosome 8 syndrome C535296||san luis valley syndrome C535295||reardon wilson cavanagh syndrome C535295||ataxia deafness retardation syndrome C535295||ataxia hearing loss and mental retardation C535295||familial ataxia deafness and developmental delay D017760||bone malalignment D017760||bone malalignments D017760||bone malposition D017760||bone malpositions D017760||bone misalignment D017760||bone misalignments D017760||malalignment bone D017760||malposition bone D017760||misalignment bone D003117||color vision defects D003117||achromatopsia D003117||acquired color blindness D003117||blindness color D003117||blue color blindness D003117||color blindness D003117||color blindness acquired D003117||color blindness blue D003117||color blindness green D003117||color blindness inherited D003117||color blindness red D003117||color blindness red green D003117||color vision defect D003117||color vision deficiency D003117||defect color vision D003117||defect deutan D003117||defects color vision D003117||deutan defect D003117||green color blindness D003117||inherited color blindness D003117||monochromatopsia D003117||protan defect D003117||red color blindness D003117||red green color blindness D003117||tritan defect D003117||vision defect color D003117||vision defects color C535298||red cell phospholipid defect with hemolysis C535298||high red cell phosphatidylcholine hemolytic anemia C535298||leaky red cell syndrome C535298||phosphatidylcholine red cell membrane disorder C535297||recurrent respiratory papillomatosis C535297||juvenile laryngeal papilloma C535297||juvenile onset recurrent respiratory papillomatosis C535297||laryngeal papilloma recurrent C535297||respiratory papillomatosis C535299||autoimmune progesterone dermatitis D004445||echinococcosis pulmonary D004445||cyst pulmonary hydatid D004445||cysts pulmonary hydatid D004445||echinococcoses pulmonary D004445||hydatid cyst pulmonary D004445||hydatid cysts pulmonary D004445||hydatidoses pulmonary D004445||hydatidosis pulmonary D004445||pulmonary echinococcoses D004445||pulmonary echinococcosis D004445||pulmonary hydatid cyst D004445||pulmonary hydatid cysts D004445||pulmonary hydatidoses D004445||pulmonary hydatidosis D004444||echinococcosis hepatic D004444||alveolar echinococcis hepatic D004444||alveolar echinococcoses hepatic D004444||alveolar echinococcosis hepatic D004444||cyst hepatic hydatid D004444||cysts hepatic hydatid D004444||echinococcis hepatic alveolar D004444||echinococcoses hepatic D004444||echinococcoses hepatic alveolar D004444||echinococcosis hepatic alveolar D004444||hepatic alveolar echinococcis D004444||hepatic alveolar echinococcoses D004444||hepatic alveolar echinococcosis D004444||hepatic echinococcoses D004444||hepatic echinococcosis D004444||hepatic hydatid cyst D004444||hepatic hydatid cysts D004444||hepatic hydatidoses D004444||hepatic hydatidosis D004444||hydatid cyst hepatic D004444||hydatid cysts hepatic D004444||hydatidoses hepatic D004444||hydatidosis hepatic C535290||rasmussen johnsen thomsen syndrome C535290||inherited congenital bilateral atresia of the external auditory canal congenital bilateral vertical talus and increased interocular distance D003110||colonic neoplasms D003110||cancer colon D003110||cancer colonic D003110||cancer of colon D003110||cancer of the colon D003110||cancers colon D003110||cancers colonic D003110|114500|D015179||colon cancer D003110||colon cancers D003110||colonic cancer D003110||colonic cancers D003110||colonic neoplasm D003110||colon neoplasm D003110||colon neoplasms D003110||neoplasm colon D003110||neoplasm colonic D003110||neoplasms colon D003110||neoplasms colonic D004443||echinococcosis D004443||cyst hydatid D004443||cysts hydatid D004443||echinococcoses D004443||hydatid cyst D004443||hydatid cysts D004443||hydatidoses D004443||hydatidosis D003111||colonic polyps D003111||colonic polyp D003111||polyp colonic D003111||polyps colonic C535292||ray peterson scott syndrome C535292||pelvic dysplasia associated with arthrogrypotic changes in the lower extremities C535292||pelvic hypoplasia and arthrogrypotic changes in the lower limbs D003112||colonic pseudo obstruction D003112||colonic pseudoobstruction D003112||ogilvie disease D003112||ogilvie apos s syndrome D003112||ogilvie syndrome D003112||pseudoobstruction colonic D003112||pseudo obstruction colonic D003112||syndrome ogilvie C535291||rasmussen subacute encephalitis C535291||subacute focal encephalitis of rasmussen D058345||asymptomatic infections D058345||asymptomatic infection D058345||infection asymptomatic D058345||infections asymptomatic D058345||infections subclinical D058345||infection subclinical D058345||subclinical infection D058345||subclinical infections 241600|C565476||hypoproteinemia hypercatabolic 612514|C567288||specific language impairment 4 612514|C567288||sli4 602081|D001072||speech language disorder 1 602081||cas 602081||childhood apraxia of speech 602081|D001072||developmental verbal dyspraxia 602081||dvd 602081||spch1 602081|D001072||speech and language disorder with orofacial dyspraxia C536816|605820||distal myopathy nonaka type C536816|605820||distal myopathy with rimmed vacuoles C536816|605820||dmrv C536816|605820||hereditary inclusion body myopathy C536816|605820||inclusion body myopathy 2 C536816|605820||myopathy distal with rimmed vacuoles C536816|605820|C563515|162820||nm C536816|605820||nonaka distal myopathy C536816|605820||nonaka myopathy C536816|605820||rimmed vacuole myopathy D017759||fractures malunited D017759||crossunited fracture D017759||crossunited fractures D017759||fracture abnormal union D017759||fracture crossunited D017759||fracture malunited D017759||fractures abnormal union D017759||fractures crossunited D017759||malunited fracture D017759||malunited fractures C565561|229300||friedreich ataxia 1 C565561|229300||fa friedreich ataxia with retained reflexes included C565561|229300||farr included C565561|229300|D005621||frda C565561|229300||frda1 275220|C535563||absence of tibia 275220|C535563||bilateral absence of the tibia 275220|C535563||thm 275220|C535563||tibia absence of 275220|C535563||tibial hemimelia D003128|C537423|257550||coma D003128||comas D003128||comatose D003128||pseudocoma D003128||pseudocomas C537279|609460||goldberg shprintzen megacolon syndrome C537279|609460||goldberg shprintzen syndrome C537279|609460||goshs C536029|303350||masa mental retardation aphasia shuffling gait adducted thumbs syndrome C536029|303350||adducted thumb with mental retardation C536029|303350||clasped thumb and mental retardation C536029|303350||crash syndrome C536029|303350||gareis mason syndrome C536029|303350||genetic diseases x linkeds C536029|303350||l1 syndrome C536029|303350||masa syndrome C536029|303350||mental retardation aphasia shuffling gait adducted thumbs masa C536029|303350||mental retardation aphasia shuffling gait and adducted thumbs C536029|303350||spastic paraplegia 1 x linked C536029|303350||spastic paraplegia type 1 C536029|303350||spg1 C536029|303350||thumb congenital clasped with mental retardation C536029|303350||x linked complicated hereditary spastic paraplegia type 1 C536029|303350||x linked corpus callosum agenesis C536029|303350||x linked hydrocephalus with stenosis of the aqueduct of sylvius hsas C536355|610629||anemia diamond blackfan 3 C536355|610629||dba3 C536355|610629||diamond blackfan anemia 3 606159|C548080||neuroferritinopathy 606159|C548080||basal ganglia disease adult onset 606159|C548080||ferritin related neurodegeneration 606159|C548080||hereditary ferritinopathy 606159|C548080||nbia3 606159|C548080||neurodegeneration with brain iron accumulation 3 D004457||echovirus infections D004457||echovirus infection D004457||echo virus infection D004457||echo virus infections D004457||infection echovirus D004457||infection echo virus D004457||infections echovirus D004457||infections echo virus D004451||echinostomiasis D004451||echinostomiases D003121||colorado tick fever D003121||fever colorado tick D003121||tick fever colorado D004454||echolalia D004454||echophrasia D004454||echo reaction D004454||echo speech D004454||reaction echo D004454||reactions echo D004454||speech echo 612567|C567251||inflammatory bowel disease 25 autosomal recessive 612567|C567251||ibd25 D003123||colorectal neoplasms hereditary nonpolyposis D003123||colon cancer familial nonpolyposis D003123||colorectal cancer hereditary nonpolyposis D003123||familial nonpolyposis colon cancer D003123||hereditary nonpolyposis colon cancer D003123||hereditary nonpolyposis colorectal cancer D003123||hereditary nonpolyposis colorectal neoplasms D003123||lynch cancer family syndrome i D003123||lynch syndrome D003123|120435|C537261||lynch syndrome i D003123||syndrome lynch D004461||eclampsia D004461||eclampsias D003130||combat disorders D003130||combat disorder D003130||combat neuroses D003130||combat neurosis D003130||combat stress disorder D003130||combat stress disorders D003130||disorder combat D003130||disorder combat stress D003130||disorders combat D003130||disorders combat stress D003130||neuroses combat D003130||neuroses war D003130||neurosis combat D003130||neurosis war D003130||shell shock D003130||shell shocks D003130||shock shell D003130||shocks shell D003130||stress disorder combat D003130||stress disorders combat D003130||war neuroses D003130||war neurosis D017769||ulnar nerve compression syndromes D017769||compression ulnar nerve D017769||entrapments ulnar nerve D017769||entrapment syndrome ulnar nerve D017769||entrapment ulnar nerve D017769||external compression syndrome ulnar nerve D017769||guyon syndrome D017769||guyon syndromes D017769||nerve compression ulnar D017769||nerve entrapment ulnar D017769||syndrome guyon D017769||syndromes guyon D017769||ulnar nerve compression D017769||ulnar nerve compressions D017769||ulnar nerve entrapment D017769||ulnar nerve entrapment at the wrist D017769||ulnar nerve entrapments D017769||ulnar nerve entrapment syndrome D017769||ulnar nerve external compression syndrome D056732|170100||prolidase deficiency D056732|170100||deficiencies imidodipeptidase D056732|170100||deficiencies prolidase D056732|170100||deficiency imidodipeptidase D056732|170100||deficiency prolidase D056732|170100||hyperimidodipeptiduria D056732|170100||hyperimidodipeptidurias D056732|170100||imidodipeptidase deficiencies D056732|170100||imidodipeptidase deficiency D056732|170100||prolidase deficiencies C535805|600110||stargardt disease 3 C535805|600110||macular dystrophy autosomal dominant chromosome 6 linked C535805|600110||macular dystrophy with flecks type 3 C535805|600110||stargardt like macular dystrophy autosomal dominant C535805|600110||stgd3 611087|C567020||polyhydramnios megalencephaly and symptomatic epilepsy 611087|C567020||pmse 611087|C567020||pmse syndrome C562890||alport syndrome like hereditary nephritis D005758||gastritis hypertrophic D005758||disease menetrier D005758||disease menetrier apos s D005758||gastritis familial giant hypertrophic D005758||gastritis giant hypertrophic D005758||giant hypertrophic gastritis D005758||hypertrophic gastritis D005758||hypertrophic gastritis giant D005758||menetrier disease D005758||menetrier apos s disease D005758||menetriers disease D004427||ear diseases D004427||disease ear D004427||disease otologic D004427||disease otological D004427||diseases ear D004427||diseases otologic D004427||diseases otological D004427||ear disease D004427||otological disease D004427||otological diseases D004427||otologic disease D004427||otologic diseases C562895||pulmonic stenosis and congenital nephrosis D005757||gastritis atrophic D005757||atrophic gastritides D005757||atrophic gastritis D005757||gastritides atrophic D004426||ear deformities acquired D004426||acquired ear deformities D004426||acquired ear deformity D004426||deformities acquired ear D004426||deformity acquired ear D004426||ear deformity acquired D005759||gastroenteritis D005759||gastroenteritides D004428||ear neoplasms D004428||auricular cancer D004428||auricular cancers D004428||auricular neoplasms D004428||cancer auricular D004428||cancer of ear D004428||cancer of ear auricle D004428||cancer of the ear D004428||cancers auricular D004428||ear auricle cancer D004428||ear auricle cancers D004428||ear auricle neoplasm D004428||ear auricle neoplasms D004428||ear cancer D004428||ear neoplasm D004428||neoplasm ear D004428||neoplasms auricular D004428||neoplasms ear D004428||neoplasms of ear auricle C562894||prune belly syndrome with pulmonic stenosis mental retardation and deafness D004422||dystonia musculorum deformans D004422||childhood torsion disease D004422||dystonia deformans musculorum D004422||dystonia deformans progressiva D004422||dystonia idiopathic torsion D004422||dystonias idiopathic torsion D004422||dystonias torsion D004422||idiopathic torsion dystonia D004422||idiopathic torsion dystonias D004422||oppenheim ziehen disease D004422||progressive torsion spasm D004422||spasm progressive torsion D004422||torsion disease childhood D004422||torsion disease of childhood D004422||torsion dystonia D004422||torsion dystonia idiopathic D004422||torsion spasm progressive D005756||gastritis D005756||gastritides C537607|222765||rhizomelic chondrodysplasia punctata type 2 C537607|222765||chondrodysplasia punctata rhizomelic due to dhapat deficiency C537607|222765||chondrodysplasia punctata rhizomelic due to dihydroxyacetonephosphate acyltransferase deficiency C537607|222765||dhapat deficiency C537607|222765||dihydroxyacetonephosphate acyltransferase deficiency C537607|222765||glyceronephosphate acyltransferase deficiency C537607|222765||glyceronephosphate o acyltransferase deficiency C537607|222765||gnpat deficiency C537607|222765||human dihydroxyacetonephosphate acyltransferase deficiency C537607|222765||peroxisomal dihydroxyacetonephosphate acyltransferase deficiency C537607|222765||rcdp2 C537607|222765||type 2 rhizomelic chondrodysplasia punctata D004420||dystocia D004420||dystocias 612580|C567241||mental retardation autosomal dominant 3 612580|C567241||mrd3 300539|C564491||nephrogenic syndrome of inappropriate antidiuresis 300539|C564491||nsiad 256600|D019150||neurodegeneration with brain iron accumulation 2a 256600||inad 256600||inad1 256600|D019150||nbia2a 256600|D019150||neuroaxonal dystrophy infantile 256600|D019150||neurodegeneration pla2g6 associated 256600||plan 256600|D019150||seitelberger disease D058365||candidiasis invasive D058365||candidiases invasive D058365||invasive candidiases D058365||invasive candidiasis 600631|D053206||nocturnal enuresis 600631|D053206||bedwetting 600631|D053206||enur1 600631|D053206||enuresis nocturnal 600631|D053206||enuresis nocturnal 1 600631|D053206||incontinence nighttime urinary 600631|D053206||nighttime urinary incontinence 600631|D053206||urinary incontinence nighttime D017733||leukoplakia hairy D017733||hairy leukoplakia D017733||hairy leukoplakia oral D017733||hairy leukoplakias D017733||hairy leukoplakias oral D017733||leukoplakia hairy oral D017733||leukoplakia oral hairy D017733||leukoplakias hairy D017733||leukoplakias oral hairy D017733||oral hairy leukoplakia D017733||oral hairy leukoplakias C537240|260540||progressive supranuclear palsy atypical C537240|260540||atypical psp C537240|260540||parkinson dementia syndrome C537240|260540||steele richardson olszewski syndrome atypical C537240|260540||steele richardson olszewski syndrome atypical included C537240|260540||supranuclear palsy progressive 1 atypical C537240|260540||supranuclear palsy progressive 1 atypical included C537240|260540||supranuclear palsy progressive atypical D016403||lymphoma large b cell diffuse D016403||diffuse histiocytic lymphoma D016403||diffuse histiocytic lymphomas D016403||diffuse large b cell lymphoma D016403||diffuse large cell lymphoma D016403||diffuse large cell lymphomas D016403||histiocytic lymphoma D016403||histiocytic lymphoma diffuse D016403||histiocytic lymphomas D016403||histiocytic lymphomas diffuse D016403||large cell lymphoma diffuse D016403||large cell lymphomas diffuse D016403||large lymphoid lymphoma diffuse D016403||lymphoma diffuse histiocytic D016403||lymphoma diffuse large cell D016403||lymphoma histiocytic D016403||lymphoma histiocytic diffuse D016403||lymphoma large cell diffuse D016403||lymphoma large lymphoid diffuse D016403||lymphomas diffuse histiocytic D016403||lymphomas diffuse large cell D016403||lymphomas histiocytic 107200|C535983||congenital anosmia 107200|C535983||anic 107200|C535983||anosmia congenital 107200|C535983||anosmia isolated congenital 107200|C535983||isolated congenital anosmia D017731||lymphomatoid papulosis D017731||lymphomatoid papuloses D017731||papuloses lymphomatoid D017731||papulosis lymphomatoid D016400||lymphoma large cell immunoblastic D016400||diffuse immunoblastic lymphosarcoma D016400||diffuse immunoblastic lymphosarcomas D016400||immunoblastic large cell lymphoma D016400||immunoblastic large cell lymphomas D016400||immunoblastic lymphoma large cell D016400||immunoblastic lymphomas large cell D016400||immunoblastic lymphosarcoma diffuse D016400||immunoblastic lymphosarcomas diffuse D016400||immunoblastic sarcoma D016400||immunoblastic sarcomas D016400||immunoblastoma D016400||immunoblastomas D016400||large cell immunoblastic lymphoma D016400||large cell immunoblastic lymphomas D016400||large cell lymphoma immunoblastic D016400||large cell lymphomas immunoblastic D016400||lymphoma immunoblastic large cell D016400||lymphomas immunoblastic large cell D016400||lymphomas large cell immunoblastic D016400||lymphosarcoma diffuse immunoblastic D016400||lymphosarcomas diffuse immunoblastic D016400||sarcoma immunoblastic D016400||sarcomas immunoblastic C531700||diarrhea prodrome hemolytic uremic syndrome C531700||diarrhea prodrome hus D050031|140300||hashimoto disease D050031|140300||chronic lymphocytic thyroiditides D050031|140300||chronic lymphocytic thyroiditis D050031|140300||disease hashimoto D050031|140300||disease hashimoto apos s D050031|140300||hashimoto apos s disease D050031|140300||hashimotos disease D050031|140300||hashimoto apos s struma D050031|140300||hashimoto apos s syndrome D050031|140300||hashimotos syndrome D050031|140300||hashimoto apos s syndromes D050031|140300||hashimoto struma D050031|140300||hashimoto syndrome D050031|140300||hashimoto thyroiditides D050031|140300||hashimoto thyroiditis D050031|140300||ht D050031|140300||hypothyroidism autoimmune thyroid autoantibodies included D050031|140300||lymphocytic thyroiditides chronic D050031|140300||lymphocytic thyroiditis chronic D050031|140300||syndrome hashimoto apos s D050031|140300||syndromes hashimoto apos s D050031|140300||thyroiditides chronic lymphocytic D050031|140300||thyroiditides hashimoto D050031|140300||thyroiditis chronic lymphocytic D050031|140300||thyroiditis hashimoto C535521|603786||stargardt disease 4 C535521|603786||stgd4 D004438||ecchymosis D004438||ecchymoses C564684|606662||waardenburg syndrome type 2c C564684|606662||waardenburg syndrome type iic C564684|606662||ws2c D003108||colonic diseases D003108||colonic disease D003108||disease colonic D003108||diseases colonic D003109||colonic diseases functional D003109||colonic disease functional D003109||disease functional colonic D003109||diseases functional colonic D003109||functional colonic disease D003109||functional colonic diseases D004433||earache D004433||earaches D004433||otalgia D004433||otalgias D005767||gastrointestinal diseases D005767||cholera infantum D005767||disease gastrointestinal D005767||diseases gastrointestinal D005767||disorder functional gastrointestinal D005767||disorders functional gastrointestinal D005767||functional gastrointestinal disorder D005767||functional gastrointestinal disorders D005767||gastrointestinal disease D005767||gastrointestinal disorder functional D005767||gastrointestinal disorders functional D005767||infantum cholera D005761||gastroenteritis transmissible of swine D005761||gastroenteritides porcine transmissible D005761||gastroenteritides swine transmissible D005761||gastroenteritides transmissible porcine D005761||gastroenteritis porcine transmissible D005761||gastroenteritis swine transmissible D005761||gastroenteritis transmissible porcine D005761||porcine gastroenteritides transmissible D005761||porcine gastroenteritis transmissible D005761||porcine transmissible gastroenteritides D005761||porcine transmissible gastroenteritis D005761||swine transmissible gastroenteritides D005761||swine transmissible gastroenteritis D005761||transmissible gastroenteritides porcine D005761||transmissible gastroenteritides swine D005761||transmissible gastroenteritis of swine D005761||transmissible gastroenteritis porcine D005761||transmissible gastroenteritis swine D005761||transmissible porcine gastroenteritides D005761||transmissible porcine gastroenteritis D003100||colles apos fracture D003100||colles fracture D003100||fracture colles apos D005770||gastrointestinal neoplasms D005770||cancer gastrointestinal D005770||cancer of gastrointestinal tract D005770||cancer of the gastrointestinal tract D005770||cancers gastrointestinal D005770||gastrointestinal cancer D005770||gastrointestinal cancers D005770||gastrointestinal neoplasm D005770||gastrointestinal tract cancer D005770||gastrointestinal tract cancers D005770||neoplasm gastrointestinal D005770||neoplasms gastrointestinal D057049||thrombotic microangiopathies D057049||microangiopathies thrombotic D057049||microangiopathy thrombotic D057049||thrombotic microangiopathy D057045||laryngopharyngeal reflux D057045||gastric reflux supraesophageal D057045||gastric regurgitation D057045||reflux laryngopharyngeal D057045||reflux supraesophageal gastric D057045||regurgitation gastric D057045||supraesophageal gastric reflux C531719||keratitis sicca C567515|611818||long qt syndrome 9 C567515|611818||long qt syndrome 2 9 C567515|611818|C563614|613688||long qt syndrome 2 9 digenic included lqt2 9 digenic included C567515|611818||long qt syndrome 9 acquired susceptibility to included C567515|611818||lqt9 D016410||lymphoma t cell cutaneous D016410||cutaneous t cell lymphoma D016410||cutaneous t cell lymphomas D016410||granulomatous slack skin D016410||lymphoma cutaneous t cell D016410||lymphomas cutaneous t cell D016410||slack skin granulomatous D016410||t cell lymphoma cutaneous D016410||t cell lymphomas cutaneous D016411||lymphoma t cell peripheral D016411||lymphoma peripheral t cell D016411||lymphomas peripheral t cell D016411||peripheral t cell lymphoma D016411||peripheral t cell lymphomas D016411||t cell lymphoma peripheral D016411||t cell lymphomas peripheral C535371||trisomy 20p C535371||chromosome 20 duplication 20p C535371||duplication 20p C535370||chromosome 20 deletion 20p C535370||deletion 20p C535370||monosomy 20p C535373||dermatoosteolysis kirghizian type C535373||kirghizian dermatoosteolysis C535372||chromosome 20 trisomy C535372||chromosome 20 duplication C535372||trisomy 20 C535372||trisomy 20 mosaicism C535375||dermochondrocorneal dystrophy of fran 231 ois C535375||dermochondrocorneal dystrophy C535375||francois syndrome C562995||hexokinase deficiency hemolytic anemia C562992||pulmonary hypoplasia primary C562993||book syndrome C562993||phc syndrome 607361|C536132||meckel syndrome type 3 607361|C536132||meckel gruber syndrome type 3 607361|C536132||mks3 183086||spinocerebellar ataxia 6 183086||sca6 C562998|C562908|187260||telangiectasia generalized essential C536710|221750||winkelman bethge pfeiffer syndrome C536710|221750||cphd3 C536710|221750||deafness sensorineural with pituitary dwarfism C536710|221750||pituitary hormone deficiency combined 3 C536710|221750||pituitary hormone deficiency combined with rigid cervical spine C536710|221750||sensorineural deafness with pituitary dwarfism C562999||hypercalcemia infantile 609470||left ventricular noncompaction 2 609470||lvnc2 143860||hyperchlorhidrosis isolated D058267||flea infestations D058267||flea infestation D058267||infestation flea D058267||infestations flea 183090||spinocerebellar ataxia 2 183090||sca2 spinocerebellar atrophy ii 183090||olivopontocerebellar atrophy holguin type 183090||olivopontocerebellar atrophy ii 183090||opca2 183090||spinocerebellar ataxia cuban type 183090||cerebellar degeneration with slow eye movements 183090||wadia swami syndrome 183090||spinocerebellar degeneration with slow eye movements 183090||sdsem amyotrophic lateral sclerosis susceptibility to 13 included 183090||als13 included D060586||trichosporonosis D060586||disseminated trichosporonoses D060586||disseminated trichosporonosis D060586||invasive trichosporonoses D060586||invasive trichosporonosis D060586||japanese summer type hypersensitivity pneumonitis D060586||pneumonitides summer type hypersensitivity D060586||pneumonitis summer type hypersensitivity D060586||summer type hypersensitivity pneumonitides D060586||summer type hypersensitivity pneumonitis D060586||trichosporonoses D060586||trichosporonoses disseminated D060586||trichosporonoses invasive D060586||trichosporonosis disseminated D060586||trichosporonosis invasive D060585||fusariosis D060585||disseminated fusarioses D060585||disseminated fusariosis D060585||fusarioses D060585||fusarioses disseminated D060585||fusarioses invasive D060585||fusarioses invasive pulmonary D060585||fusarioses pulmonary D060585||fusariosis disseminated D060585||fusariosis invasive D060585||fusariosis invasive pulmonary D060585||fusariosis pulmonary D060585||fusarium infection D060585||fusarium infections D060585||infection fusarium D060585||infections fusarium D060585||invasive fusarioses D060585||invasive fusariosis D060585||invasive pulmonary fusarioses D060585||invasive pulmonary fusariosis D060585||pulmonary fusarioses D060585||pulmonary fusariosis 610460|C536512||thiopurine s methyltransferase deficiency 610460|C536512||thiopurines poor metabolism of 610460|C536512||tpmt deficiency 106300|D013167||spondylitis ankylosing 106300|D013167||ankylosing spondylarthritides 106300|D013167||ankylosing spondylarthritis 106300|D013167||ankylosing spondylitis 106300|D013167||ankylosing spondylitis susceptibility to 106300|D013167||ankylosing spondyloarthritides 106300|D013167||ankylosing spondyloarthritis 106300|D013167||bechterew disease 106300|D013167||bechterew apos s disease 106300|D013167||bechterews disease 106300|D013167|D025242||bechterew syndrome 106300|D013167||marie struempell disease 106300|D013167|D025242||marie strumpell spondylitis 106300|D013167||rheumatoid spondylitis 106300|D013167||spda1 106300|D013167||spondylarthritides ankylosing 106300|D013167||spondylarthritis ankylopoietica 106300|D013167||spondylarthritis ankylosing 106300|D013167||spondylitis ankylopoietica 106300|D013167||spondylitis rheumatoid 106300|D013167||spondyloarthritides ankylosing 106300|D013167||spondyloarthritis ankylopoietica 106300|D013167||spondyloarthritis ankylosing 106300|D013167||spondyloarthropathy susceptibility to 1 C535368||chromosome 2 trisomy 2q37 C535368||duplication 2q37 C535368||trisomy 2q37 C535367||chromosome 2 trisomy 2q C535367||duplication 2q C535367||trisomy 2q C536699||whistling face syndrome recessive form C535369||chromosome 20 ring D046290||liver abscess pyogenic D046290||abscesses pyogenic hepatic D046290||abscesses pyogenic liver D046290||abscess pyogenic hepatic D046290||abscess pyogenic liver D046290||hepatic abscesses pyogenic D046290||hepatic abscess pyogenic D046290||liver abscesses pyogenic D046290||pyogenic hepatic abscess D046290||pyogenic hepatic abscesses D046290||pyogenic liver abscess D046290||pyogenic liver abscesses C535381||arthrogryposis multiplex with deafness inguinal hernias and early death C535384||arthrogryposis distal type 2e C535384||contractures of fingers and jaw C535386||arthrogryposis like hand anomaly and sensorineural deafness C535386||arthrogryposis distal type 6 C535386||familial hand abnormality and sensori neural deafness C535385||arthrogryposis distal with hypopituitarism mental retardation and facial anomalies C536046|610967||osteogenesis imperfecta type 5 C536046|610967|C567042||oi5 C536046|610967|C567042||oi type v C536046|610967|C567042||osteogenesis imperfecta type v D005862||gerstmann syndrome D005862||acquired gerstmann apos s syndrome D005862||acquired gerstmann syndrome D005862||de gerstmann syndrome D005862||developmental gerstmann apos s syndrome D005862||developmental gerstmanns syndrome D005862||developmental gerstmann syndrome D005862||finger agnosia left right confusion acalculia agraphia D005862||finger agnosia left right confusion acalculia agraphias D005862||gerstmann badal syndrome D005862||gerstmann apos s syndrome D005862||gerstmann apos s syndrome acquired D005862||gerstmann apos s syndrome developmental D005862||gerstmann syndrome 2 D005862||gerstmann syndrome acquired D005862||gerstmann syndrome de D005862||gerstmann syndrome developmental D005862||syndrome acquired gerstmann D005862||syndrome acquired gerstmann apos s D005862||syndrome de gerstmann D005862||syndrome developmental gerstmann D005862||syndrome gerstmann D005862||syndrome gerstmann badal C535379||arthrogryposis multiplex congenita distal type 2 C535379||congenital contractures with major involvement of the hands and feet C535379||distal arthrogryposis type 2 270960||spermatogenic failure 4 270960|C536875||azoospermia due to perturbations of meiosis 270960|C536875||azoospermia with maturation arrest 270960||rprgl4 270960||spermatogenesis arrest pregnancy loss recurrent susceptibility to 4 270960||spgf4 D016511||severe combined immunodeficiency D016511|209920|C537079||bare lymphocyte syndrome D016511||bare lymphocyte syndromes D016511||combined immunodeficiencies severe D016511||combined immunodeficiency severe D016511||familial reticuloendothelioses D016511||familial reticuloendotheliosis D016511||immunodeficiencies severe combined D016511||immunodeficiency severe combined D016511||immunodeficiency syndrome severe combined D016511||immunologic deficiency severe combined D016511||lymphocyte syndrome bare D016511||lymphocyte syndromes bare D016511||omenn apos s syndrome D016511||omenns syndrome D016511|C538564|603554||omenn syndrome D016511||reticuloendothelioses familial D016511||reticuloendotheliosis familial D016511||severe combined immunodeficiencies D016511||severe combined immunodeficiency syndrome D016511||severe combined immunologic deficiency D016511||syndrome bare lymphocyte D016511||syndrome omenn D016511||syndrome omenn apos s D016511||syndromes bare lymphocyte C537989|600882||charcot marie tooth disease type 2b C537989|600882||charcot marie tooth disease autosomal dominant type 2b C537989|600882||charcot marie tooth disease axonal type 2b C537989|600882||charcot marie tooth disease neuronal type 2b C537989|600882||charcot marie tooth neuropathy type 2b C537989|600882||cmt2b C537989|600882||cmt 2b C537989|600882||hereditary motor and sensory neuropathy 2 b hmsn 2 b C537989|600882||hereditary motor and sensory neuropathy iib C537989|600882||hmsn2b C537989|600882||hmsn iib C537989|600882||peripheral sensory neuropathy autosomal dominant psn C535378||arthrogryposis multiplex congenita distal type 1 C535378||distal arthrogryposis type 1 D016512||ankle injuries D016512||ankle injury D016512||ankle sprain D016512||ankle sprains D016512||injuries ankle D016512||injuries syndesmotic D016512||injury ankle D016512||injury syndesmotic D016512||sprain ankle D016512||sprains ankle D016512||syndesmotic injuries D016512||syndesmotic injury D016510||corneal neovascularization D016510||angiogenesis corneal D016510||corneal angiogenesis D016510||corneal neovascularizations D016510||neovascularization corneal D016510||neovascularizations corneal C535392||astley kendall syndrome C535392||astley kendall dysplasia C535392||short limbed dwarfism with extensive stippling C563471|600593||craniosynostosis adelaide type C563471|600593||crsa D005834||genital neoplasms male D005834||genital neoplasm male D005834||male genital neoplasm D005834||male genital neoplasms D005834||neoplasm male genital D005834||neoplasms male genital C562973||dysosteosclerosis C535399||charcot marie tooth disease dominant intermediate 1 D005831||genital diseases female D005831||diseases female genital D005831||diseases gynecologic D005831||female genital disease D005831||female genital diseases D005831||genital disease female D005831||gynecologic disease D005831||gynecologic diseases D005833||genital neoplasms female D005833||female genital neoplasm D005833||female genital neoplasms D005833||genital neoplasm female D005833||gynecologic neoplasm D005833||gynecologic neoplasms D005833||neoplasm female genital D005833||neoplasm gynecologic D005833||neoplasms female genital D005833||neoplasms gynecologic C562974||craniofacial dysostosis with diaphyseal hyperplasia C562974||osteosclerosis stanescu type 608404|C564245||platelet glycoprotein iv deficiency 608404|C564245||bdplt10 608404|C564245||bleeding disorder platelet type 10 608404|C564245||cd36 deficiency D005832||genital diseases male D005832||disease male genital D005832||diseases male genital D005832||genital disease male D005832||male genital disease D005832||male genital diseases 143890||fh 143890||fhc 143890||ldlcq2 included 143890||ldl receptor disorder low density lipoprotein cholesterol level quantitative trait locus 2 included C562978||fibromatosis congenital generalized C562978||myofibromatosis infantile C535391||asrar facharzt haque syndrome C535390||aspergillus niger infection C535390||aspergillus niger infection pulmonary D058285||tungiasis D058288||sister mary joseph apos s nodule D058288||nodule sister joseph apos s D058288||nodules sister joseph apos s D058288||sister joseph nodule D058288||sister joseph apos s nodule D058288||sister josephs nodule D058288||sister joseph apos s nodules 255310||cftd 255310|C580011||cftdm 609452||myopathy myofibrillar 4 609452||mfm4 C535337|610019||cataract autosomal recessive congenital 2 C535337|610019||cataract 18 C535337|610019||catc2 C535337|610019||ctrct18 188030|D016553||purpura thrombocytopenic idiopathic 188030|D016553||aitp 188030|D016553||autoimmune thrombocytopenia 188030|D016553||autoimmune thrombocytopenias 188030|D016553||autoimmune thrombocytopenic purpura 188030|D016553||autoimmune thrombocytopenic purpuras 188030|D016553||disease werlhof 188030|D016553||disease werlhof apos s 188030|D016553||idiopathic thrombocytopenic purpura 188030|D016553||idiopathic thrombocytopenic purpuras 188030|D016553||immune thrombocytopenic purpura 188030|D016553||itp 188030|D016553||purpura autoimmune thrombocytopenic 188030|D016553||purpura idiopathic thrombocytopenic 188030|D016553||purpuras autoimmune thrombocytopenic 188030|D016553||purpuras idiopathic thrombocytopenic 188030|D016553||purpura thrombocytopenic autoimmune 188030|D016553||thrombocytopenia autoimmune 188030|D016553||thrombocytopenias autoimmune 188030|D016553||thrombocytopenic purpura autoimmune 188030|D016553||thrombocytopenic purpura idiopathic 188030|D016553||thrombocytopenic purpuras idiopathic 188030|D016553||werlhof disease 188030|D016553||werlhof apos s disease 188030|D016553||werlhofs disease C537136|258900||oroticaciduria 1 C537136|258900||oawa included C537136|258900||oprt and odc deficiency C537136|258900||orotate phosphoribosyltransferase and omp decarboxylase deficiency C537136|258900||orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency C537136|258900||orotic aciduria C537136|258900||orotic aciduria i C537136|258900||orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency C537136|258900||umps deficiency orotic aciduria without megaloblastic anemia included C537136|258900||ump synthase deficiency C537136|258900||uridine monophosphate synthase deficiency C537136|258900||uridine monophosphate synthetase deficiency D000361|613500||agammaglobulinemia D000361|613500||agammaglobulinemia 2 autosomal recessive D000361|613500||agammaglobulinemia 3 autosomal recessive D000361|613500||agammaglobulinemia 5 autosomal dominant D000361|613500||agammaglobulinemia autosomal dominant due to lrrc8a defect D000361|613500||agammaglobulinemia autosomal recessive due to cd79a defect D000361|613500||agammaglobulinemia autosomal recessive due to igll1 defect D000361|613500||agammaglobulinemias D000361|613500||agm2 D000361|613500||agm3 D000361|613500||agm5 D000361|613500||hypogammaglobulinemia D000361|613500||hypogammaglobulinemias C535748|608093||congenital disorder of glycosylation type 1j C535748|608093||cdg1j C535748|608093||cdgij C535748|608093||cdg ij C535748|608093||congenital disorder of glycosylation type ij D005489|305600||focal dermal hypoplasia D005489|305600||dermal hypoplasia focal D005489|305600||dermal hypoplasias focal D005489|305600||dhof D005489|305600||fdh D005489|305600||focal dermal hypoplasias D005489|305600||fodh D005489|305600||goltz gorlin syndrome D005489|305600||goltz apos s syndrome D005489|305600||goltzs syndrome D005489|305600||goltz syndrome D005489|305600||gorlin syndrome goltz D005489|305600||hypoplasia focal dermal D005489|305600||hypoplasias focal dermal D005489|305600||syndrome goltz D005489|305600||syndrome goltz gorlin D005489|305600||syndrome goltz apos s 231100|C536394||neonatal hemochromatosis 231100|C536394||alloimmune hepatitis congenital 231100|C536394||giant cell hepatitis formerly 231100|C536394||hemochromatosis neonatal 231100|C536394||idiopathic neonatal hemochromatosis 231100|C536394||neonatal hepatitis formerly 231100|C536394||nh 231100|C536394||nhc D005847||geotrichosis D005847||geotrichoses C562988||pseudomonilethrix 610427|C536122||night blindness congenital stationary type 2b 610427|C536122||csnb2b 610427|C536122||csnb incomplete autosomal recessive 610427|C536122||night blindness congenital stationary incomplete autosomal recessive 217095|C535464||conotruncal heart malformations 217095||cafs included 217095||conotruncal anomaly face syndrome included 217095||cthm 217095||dorv included 217095||double outlet right ventricle included 217095||interrupted aortic arch included 217095||persistent truncus arteriosus included 217095||pta included 217095||truncus arteriosus communis included 610425||cataract 23 610425||cataract 23 lamellar 610425||ctrct23 C562989||amastia C562989||amazia C535687|268300||roberts syndrome C535687|268300||appelt gerken lenz syndrome C535687|268300||hypomelia hypotrichosis facial hemangioma syndrome C535687|268300||long bone deficiencies associated with cleft lip palate C535687|268300||pseudothalidomide syndrome C535687|268300||rbs C535687|268300||roberts sc phocomelia syndrome C535687|268300||sc phocomelia syndrome C535687|268300||sc pseudothalidomide syndrome C535687|268300||sc syndrome C535687|268300||tetraphocomelia cleft palate syndrome 181600|C537526||sclerotylosis 181600|C537526||hrz 181600|C537526||huriez syndrome 181600|C537526||scleroatrophic and keratotic dermatosis of limbs 181600|C537526||tys 179450|C566725||ragweed sensitivity C565128|124000||mitochondrial complex iii deficiency C565128|124000||mc3dn1 C565128|124000||mitochondrial complex iii deficiency nuclear type 1 C535780|272460||spondylocarpotarsal synostosis C535780|272460||congenital scoliosis with unilateral unsegmented bar C535780|272460||congenital synspondylism C535780|272460||scoliosis congenital with unilateral unsegmented bar C535780|272460||sct C535780|272460||sct syndrome C535780|272460||spondylocarpotarsal syndrome C535780|272460||spondylocarpotarsal synostosis syndrome C535780|272460||synspondylism congenital C535780|272460||vertebral fusion with carpal coalition D021081||chronobiology disorders D021081||biological clock disturbance D021081||biological clock disturbances D021081||chronobiology disorder D021081||circadian dysregulation D021081||circadian rhythm disorder D021081||circadian rhythm disorders D021081||disturbance biological clock D021081||disturbances biological clock D021081||dysregulation circadian D021081||inversion of circadian rhythm psychogenic D021081||psychogenic inversion of circadian rhythm 221770|C536329||polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 221770|C536329||brain bone fat disease 221770|C536329||dementia prefrontal with bone cysts 221770|C536329||dementia progressive with lipomembranous polycystic osteodysplasia 221770|C536329||nasu hakola disease 221770|C536329||nhd 221770|C536329||plo sl 221770|C536329||plosl 221770|C536329||presenile dementia with bone cysts D017823||furcation defects D017823||defect furcation D017823||defects furcation D017823||furcation defect 217090|C566897||plasminogen deficiency type i 217090|C566897||dysplasminogenemia 217090|C566897||dysplasminogenemia included 217090|C566897||ligneous conjunctivitis 217090|C566897||ligneous conjunctivitis included C536660||perniola krajewska carnevale syndrome C536660||congenital alopecia psychomotor retardation convulsions C536660||neuroectodermosis with alopecia or hypotrichosis D054705||mastocytoma skin D054705||skin mastocytoma D054705||solitary mastocytoma of skin C562950||cleft soft palate C537995||dysferlinopathy C562951||trigonocephaly nonsyndromic C562951|190440||craniosynostosis metopic C537992||charcot marie tooth disease type 2c C537992||charcot marie tooth disease axonal type 2c C537992||hereditary motor and sensory neuropathy 2 c C564577|607398||glucocorticoid deficiency 2 C564577|607398||familial glucocorticoid deficiency 2 C564577|607398||fgd2 C564577|607398||gccd2 220400|D029593||jervell lange nielsen syndrome 220400|D029593||cardio auditory syncope syndrome 220400|D029593||cardioauditory syndrome of jervell and lange nielsen 220400|D029593||deafness congenital and functional heart disease 220400|D029593||jervell and lange nielsen syndrome 220400|D029593||jervell and lange nielsen syndrome 1 220400|D029593||jlns1 220400|D029593||prolonged qt interval in ekg and sudden death 220400|D029593||surdo cardiac syndrome 220400|D029593||surdo cardiac syndromes 220400|D029593||syndrome jervell lange nielsen 220400|D029593||syndrome surdo cardiac C535332||aase smith syndrome C535332||aase smith syndrome i C535332||hydrocephalus cleft palate joint contractures C535332||joint contractures with other abnormalities C563755|609265||li fraumeni syndrome 2 C563755|609265||lfs2 D034381||hearing loss D034381||hearing impairment D034381||hypoacuses D034381||hypoacusis D034381||loss hearing C562952||cervical vertebrae agenesis of C562958||spondyloepimetaphyseal dysplasia irapa type C562958||semdit C566384|603373||hyperthyroidism familial gestational C536656||peptide growth factors deficiency C536656||hoepffner dreyer reimers syndrome C536656||peptidic growth factors deficiency C537988||charcot marie tooth disease type 2a C537988||charcot marie tooth disease axonal type 2a C537988||charcot marie tooth disease neuronal type 2a C537988||hereditary motor and sensory neuropathy 2 a C537988||hmsn iia 607841|C564322||deafness autosomal dominant 48 607841|C564322||dfna48 C537986||charcot marie tooth disease type 1e C535327||holzgreve wagner rehder syndrome C535327||complex congenital heart defect renal agenesis and cleft lip and palate C535327||holzgreve syndrome C535329||hooft disease C536670||skeletal dysplasia san diego type C536671||sketetal dysplasia coarse facies mental retardation C536671||spondyloepimetaphyseal dysplasia x linked with mental deterioration C562961||chondrodysplasia punctata tibia metacarpal type 218600|C536788||craniosynostosis radial aplasia syndrome 218600|C536788||baller gerold syndrome 218600|C536788||bgs 218600|C536788||craniosynostosis with radial defects C536672||slavotinek pike mills hurst syndrome C536673||slti salem syndrome C536673||hypogonadism and frontoparietal alopecia C536673||hypogonadotropic hypogonadism alopecia 276600|D020176||tyrosinemias 276600|D020176||2 tyrosinemias type 276600|D020176||2 tyrosinemia type 276600|D020176||4 hydroxyphenol pyruvic acid oxidase deficiency disease 276600|D020176||4 hydroxyphenylpyruvate dioxygenase deficiency 276600|D020176||4 hydroxyphenylpyruvate dioxygenase deficiency disease 276600|D020176||4 hydroxyphenylpyruvic acid oxidase deficiency 276600|D020176||deficiencies 4 hydroxyphenylpyruvate dioxygenase 276600|D020176||deficiencies fumarylacetoacetase 276600|D020176||deficiencies tat 276600|D020176||deficiency 4 hydroxyphenylpyruvate dioxygenase 276600|D020176||deficiency disease 4 hydroxyphenol pyruvic acid oxidase 276600|D020176||deficiency disease fumarylacetoacetase 276600|D020176||deficiency diseases fumarylacetoacetase 276600|D020176||deficiency disease tyrosine transaminase 276600|D020176||deficiency fumarylacetoacetase 276600|D020176||deficiency tat 276600|D020176||dioxygenase deficiencies 4 hydroxyphenylpyruvate 276600|D020176||dioxygenase deficiency 4 hydroxyphenylpyruvate 276600|D020176||disease fumarylacetoacetase deficiency 276600|D020176||diseases fumarylacetoacetase deficiency 276600|D020176||fah deficiency 276600|D020176||fumarylacetoacetase deficiencies 276600|D020176||fumarylacetoacetase deficiency 276600|D020176||fumarylacetoacetase deficiency disease 276600|D020176||fumarylacetoacetase deficiency diseases 276600|D020176||hepatorenal tyrosinemia 276600|D020176||hepatorenal tyrosinemias 276600|D020176||hereditary tyrosinemia 276600|D020176||hereditary tyrosinemias 276600|D020176||hereditary tyrosinemia type i 276600|D020176||hereditary tyrosinemia type ii 276600|D020176||hereditary tyrosinemia type iii 276600|D020176||hypertyrosinemia 276600|D020176||hypertyrosinemias type i 276600|D020176||hypertyrosinemia type i 276600|D020176||keratosis palmoplantaris with corneal dystrophy 276600|D020176||oculocutaneous type tyrosinoses 276600|D020176||oculocutaneous type tyrosinosis 276600|D020176||oregon type tyrosinemia 276600|D020176||richner hanhart syndrome 276600|D020176||richner hanhart syndromes 276600|D020176||richner hanhart syndrome tyrosinosis oculocutaneous type 276600|D020176||syndrome richner hanhart 276600|D020176||syndromes richner hanhart 276600|D020176||tat deficiencies 276600|D020176||tat deficiency 276600|D020176||type 2 tyrosinemia 276600|D020176||type 2 tyrosinemias 276600|D020176||type i hypertyrosinemia 276600|D020176||type i hypertyrosinemias 276600|D020176||type iii tyrosinemia 276600|D020176||type iii tyrosinemias 276600|D020176||type ii tyrosinemia 276600|D020176||type ii tyrosinemias 276600|D020176||type i tyrosinemia 276600|D020176||type i tyrosinemias 276600|D020176||type tyrosinoses oculocutaneous 276600|D020176||type tyrosinosis oculocutaneous 276600|D020176||tyrosine aminotransferase deficiency 276600|D020176||tyrosinemia 276600|D020176||tyrosinemia hepatorenal 276600|D020176||tyrosinemia hereditary 276600|D020176||tyrosinemias hepatorenal 276600|D020176||tyrosinemias hereditary 276600|D020176||tyrosinemias type 2 276600|D020176||tyrosinemias type i 276600|D020176||tyrosinemias type ii 276600|D020176||tyrosinemias type iii 276600|D020176||tyrosinemia type 1 276600|D020176||tyrosinemia type 1s 276600|D020176||tyrosinemia type 2 276600|D020176||tyrosinemia type i 276600|D020176||tyrosinemia type ii 276600|D020176||tyrosinemia type iii 276600|D020176||tyrosine transaminase deficiency 276600|D020176||tyrosine transaminase deficiency disease 276600|D020176||tyrosinoses oculocutaneous type 276600|D020176||tyrosinosis oculocutaneous type 276600|D020176||tyrsn1 276600|D020176||tyrsn2 276600|D020176||tyrsn3 C562968||spondyloepimetaphyseal dysplasia with joint laxity C562968||semdjl C535325|261640||6 pyruvoyl tetrahydropterin synthase deficiency C535325|261640||hpabh4a C535325|261640||hyperphenylalaninemia bh4 deficient a C535325|261640||hyperphenylalaninemia bh4 deficient type a C535325|261640||hyperphenylalaninemia due to 6 pyruvoyltetrahydropterin synthase deficiency C535325|261640||hyperphenylalaninemia tetrahydrobiopterin deficient due to pts deficiency C535325|261640||pts deficiency C535325|261640||pts deficiency hyperphenylalaninemia bh4 deficient due to partial pts deficiency included 210720|C565898||microcephalic osteodysplastic primordial dwarfism type ii 210720|C565898||majewski osteodysplastic primordial dwarfism type ii 210720|C565898||microcephalic osteodysplastic primordial dwarfism type 2 210720|C565898||microcephalic osteodysplastic primordial dwarfism with tooth abnormalities 210720|C565898||mopd2 210720|C565898||mopdii 210720|C565898||mopd ii 210720|C565898||osteodysplastic primordial dwarfism type 2 210720|C565898||osteodysplastic primordial dwarfism type ii C535335||abderhalden kaufmann lignac syndrome C535335||abderhalden lignac kaufmann disease C537999||dyssegmental dysplasia rolland desbuquois type C537999||anisospondylic camptomicromelic dwarfism rolland desbuquois type C537999||dyssegmental dwarfism rolland desbuquois type C536668||sjogren larsson like syndrome C536668||ichthyosis sjogren larsson like without cns or eye involvement C536668||sjogren larsson like ichthyosis without cns or eye involvement C537997||dysplasia epiphysealis hemimelica C537997||trevor disease C536666||situs inversus totalis with cystic dysplasia of kidneys and pancreas C535336||cataract alopecia sclerodactyly C535336||cataract alopecia sclerodactyly syndrome C535339||posterior polar cataract 1 C536669||sj 246 gren mikulicz syndrome C536669||sjogren mikulicz syndrome C536682||warburton anyane yeboa syndrome C536682||mosaic variegated aneuplody microcephaly syndrome C535351||capos syndrome C535351||capos C535351||cerebellar ataxia areflexia pes cavus optic atrophy and sensorineural hearing loss C535351||cerebellar ataxia areflexia pes cavus optic atrophy and sensorinural hearing loss C536680||sonoda syndrome C535350||cerebellar ataxia ectodermal dysplasia C535350||cerebellar ataxia and ectodermal dysplasia C535350||ectodermal dysplasia and cerebellar ataxia C536685||fatal pneumococcal waterhouse friderichsen syndrome C535353||cerebellar hypoplasia with endosteal sclerosis C535352||cerebellar degeneration subacute C535352||subacute cerebellar degeneration C536683||warfarin syndrome C536683||congenital warfarin syndrome C536683||coumarin syndrome C536683||disala syndrome C536683||fetal anticoagulant syndrome C536683||warfarin embryopathy D010390||pemphigoid benign mucous membrane D010390||benign mucosal pemphigoid D010390||benign mucosal pemphigoids D010390||benign mucous membrane pemphigoid D010390||cicatricial pemphigoid D010390||cicatricial pemphigoid ocular D010390||cicatricial pemphigoids ocular D010390||mucosal pemphigoid benign D010390||mucosal pemphigoids benign D010390||mucous membrane pemphigoid benign D010390||ocular cicatricial pemphigoid D010390||ocular cicatricial pemphigoids D010390||pemphigoid benign mucosal D010390||pemphigoid cicatricial D010390||pemphigoid ocular cicatricial D010390||pemphigoids benign mucosal D010390||pemphigoids ocular cicatricial C535355||chorea remitting with nystagmus and cataracts C535355||chorea remitting with nystagmus and cataract C535355||familial remitting chorea nystagmus and cataracts C536684||warman mulliken hayward syndrome C535354||cerebral astrocytoma adult C535354||adult cerebral astrocytoma C536991|252350||moyamoya disease 1 C536991|252350||mymy C536991|252350||mymy1 C536991|252350||spontaneous occlusion of the circle of willis C562932||muscular dystrophy scapulohumeral C548666||mycobacterial disease mendelian susceptibility to C548666|209950|D009165||atypical mycobacterial infection familial disseminated 611726||epilepsy progressive myoclonic 3 with or without intracellular inclusions 611726||ceroid lipofuscinosis neuronal 14 611726||cln14 611726||epm3 C535503|600969||epiphyseal dysplasia multiple 3 C535503|600969||edm3 C535503|600969||epiphyseal dysplasia multiple 3 with myopathy included C535503|600969||multiple epiphyseal dysplasia 3 C562934|255200||myopathy centronuclear autosomal recessive C562934|255200||myotubular myopathy autosomal recessive C562935||myopathy with abnormal lipid metabolism C562935||lipid storage myopathy C535282|259775||raine syndrome C535282|259775||lethal osteosclerotic bone dysplasia C535282|259775||osteosclerotic bone dysplasia lethal C535282|259775||rns C535346||catatrichy C535346||forelock C536679||sohval soffer syndrome C536679||congenital testicular deficiency C535345||cataracts ataxia short stature and mental retardation C535345||casm syndrome C535345||cataract ataxia short stature and mental retardation D010383||pellagra D010383||pellagras D010382||peliosis hepatis D010382||hepatis peliosis C535347||catel manzke syndrome C535347||hyperphalangy clinodactyly of index finger with pierre robin syndrome C535347||index finger anomaly with pierre robin syndrome C535347||palatodigital syndrome catel manzke type C535347||pierre robin syndrome with hyperphalangy and clinodactyly D010386||pelvic neoplasms D010386||cancer of pelvis D010386||cancer of the pelvis D010386||cancer pelvic D010386||cancer pelvis D010386||cancers pelvic D010386||cancers pelvis D010386||neoplasm pelvic D010386||neoplasm pelvis D010386||neoplasms of pelvis D010386||neoplasms pelvic D010386||neoplasms pelvis D010386||pelvic cancer D010386||pelvic cancers D010386||pelvic neoplasm D010386||pelvis cancer D010386||pelvis cancers D010386||pelvis neoplasm D010386||pelvis neoplasms C536692||wells jankovic syndrome C536692||familial spastic paraparesis and deafness C536692||spastic paraparesis and deafness C537149|307200||hypogammaglobulinemia and isolated growth hormone deficiency x linked C537149|307200||agammaglobulinemia and isolated growth hormone deficiency x linked C537149|307200||fleisher syndrome C537149|307200||growth hormone deficiency with hypogammaglobulinemia C537149|307200||ighd3 C537149|307200||ighd iii C537149|307200||isolated growth hormone deficiency type 3 C537149|307200||isolated growth hormone deficiency type iii C537149|307200||nanism due to growth hormone isolated deficiency with x linked hypogammaglobulinemia C536693||wells syndrome C536693||bullous cellulitis with eosinophilia C536693||eosinophilic cellulitis C536693||wells apos syndrome D054739||dendritic cell sarcoma interdigitating D054739||interdigitating cell sarcoma D054739||interdigitating cell sarcomas D054739||interdigitating dendritic cell sarcoma D054739||sarcoma interdigitating cell D054739||sarcomas interdigitating cell C535362||chromosome 1p36 deletion syndrome C535362||1p36 33 deletion C535362||1p36 deletion syndrome C535362||chromosome 1 1p36 deletion syndrome C535362||deletion 1p36 33 C535362||monosomy 1p36 syndrome C536691||wellesley carmen french syndrome C536691||cataract aberrant oral frenula and growth retardation C536691||cataracts aberrant oral frenula and growth retardation C535361||chromosome 1 ring C535361||ring chromosome 1 C536696||weyers ulnar ray oligodactyly syndrome C535364||chromosome 1 duplication 1p21 p32 C535364||duplication 1p21 p32 C535364||trisomy 1p21 p32 C562940||craniodiaphyseal dysplasia C535363||chromosome 1 deletion q21 q25 C535363||deletion 1q21 q25 C535363||monosomy 1q21 q25 C536694||westphal disease C536694||westphal variant of huntington apos s disease C535366||chromosome 2 trisomy 2pter p24 C535366||duplication 2pter p24 C535366||trisomy 2pter p24 C536658|300388||perisylvian syndrome C536658|300388||bpp C536658|300388||bppx C536658|300388||cbps C536658|300388||congenital bilateral perisylvian syndrome C536658|300388||perisylvian syndrome congenital bilateral C536658|300388||pmgx C536658|300388||polymicrogyria bilateral perisylvian C536658|300388||polymicrogyria bilateral perisylvian x linked C535365||chromosome 2 trisomy 2p13 p21 C535365||duplication 2p13 p21 C535365||trisomy 2p13 p21 C562943||choroid plexus carcinoma C562941|D030342||telecanthus 609400||autoimmune disease susceptibility to 4 609400||ais4 609400||autoimmune disease susceptibility locus chromosome 4 related 609400||vamas5 609400||vitiligo associated multiple autoimmune disease susceptibility 5 607084|C564629||deafness autosomal recessive 31 607084|C564629||dfnb31 607084|C564629||whirler mouse homolog of C562949||adducted thumbs syndrome C562949||thumbs congenital clasped D008088||listeriosis D008088||infection listeria D008088||infections listeria D008088||listeria infection D008088||listeria infections D008088||listerioses 205950|C567145||anemia sideroblastic pyridoxine refractory autosomal recessive C537550|156600||microcoria congenital C537550|156600||congenital microcoria C537550|156600||congenital miosis C537550|156600||mcor C537550|156600||miosis congenital C537550|156600||pinhole pupils C566344|603678||deafness autosomal recessive 14 C566344|603678||dfnb14 D010392||pemphigus D010392||foliaceus pemphigus D010392||pemphigus foliaceus D010392||pemphigus vulgaris C535357||choroid plexus calcification with mental retardation C535357||choroido cerebral calcification syndrome with retardation C535357||choroid plexus calcification and mental retardation D010391||pemphigoid bullous D010391||bullous pemphigoid D010391||pemphigoid D010391||pemphigoids D008080||liposarcoma D008080||dedifferentiated liposarcoma D008080||dedifferentiated liposarcomas D008080||liposarcoma dedifferentiated D008080||liposarcoma pleomorphic D008080||liposarcomas D008080||liposarcomas dedifferentiated D008080||liposarcomas pleomorphic D008080||pleomorphic liposarcoma D008080||pleomorphic liposarcomas C536688||weinstein kliman scully syndrome C536688||cardiomyopathy hypogonadism and metabolic anomalies C538216|125500||dentinogenesis imperfecta shields type 3 C538216|125500||brandywine type dentinogenesis imperfecta C538216|125500||dentinogenesis imperfecta shields type iii C538216|125500||dgi iii 209900|D020788||bardet biedl syndrome 209900|D020788||bardet biedl syndrome 10 included 209900|D020788||bardet biedl syndrome 11 included 209900|D020788||bardet biedl syndrome 12 included 209900|D020788||bardet biedl syndrome 13 included 209900|D020788||bardet biedl syndrome 14 included 209900|D020788||bardet biedl syndrome 15 included 209900|D020788||bardet biedl syndrome 17 included 209900|D020788||bardet biedl syndrome 18 included 209900|D020788||bardet biedl syndrome 1 included 209900|D020788||bardet biedl syndrome 2 included 209900|D020788||bardet biedl syndrome 3 included 209900|D020788||bardet biedl syndrome 4 included 209900|D020788||bardet biedl syndrome 5 included 209900|D020788||bardet biedl syndrome 6 included 209900|D020788||bardet biedl syndrome 7 included 209900|D020788||bardet biedl syndrome 8 included 209900|D020788||bardet biedl syndrome 9 included 209900|D020788||bbs 209900|D020788||bbs10 included 209900|D020788||bbs11 included 209900|D020788||bbs12 included 209900|D020788||bbs13 included 209900|D020788||bbs14 included 209900|D020788||bbs15 included 209900|D020788||bbs17 included 209900|D020788||bbs18 included 209900|D020788||bbs1 included 209900|D020788||bbs2 included 209900|D020788||bbs3 included 209900|D020788||bbs4 included 209900|D020788||bbs5 included 209900|D020788||bbs6 included 209900|D020788||bbs7 included 209900|D020788||bbs8 included 209900|D020788||bbs9 included 209900|D020788||laurence moon bardet biedl syndrome 209900|D020788||syndrome bardet biedl 209900|D020788||syndrome laurence moon bardet biedl C567561|612794||atrial septal defect 5 C567561|612794||asd5 C536620||say meyer syndrome C536620||trigonocephaly short stature and developmental delay C536620||trigonocephaly short stature and retarded psychomotor development C536620||trigonocephaly with short stature and developmental delay C567452|611944||lymphedema hereditary ib C567452|611944||lmph1b 172800|D016116||piebaldism 172800|D016116||albinism cutaneous 172800|D016116||albinism partial 172800|D016116||cutaneous albinism 172800|D016116||partial albinism 172800|D016116||pbt 172800|D016116||piebald trait C562912||rudiger syndrome D008048||lip neoplasms D008048||cancer lip D008048||cancer of lip D008048||cancer of the lip D008048||cancers lip D008048||lip cancer D008048||lip cancers D008048||lip neoplasm D008048||neoplasm lip D008048||neoplasms lip D009379||neoplasms muscle tissue D009379||muscle tissue neoplasm D009379||muscle tissue neoplasms D009379||myoblastoma D009379||myoblastomas D009379||myofibroblastoma D009379||myofibroblastomas D009379||neoplasm muscle tissue D009389||neovascularization pathologic D009389||angiogenesis pathologic D009389||angiogenesis pathological D009389||neovascularization pathological D009389||pathological angiogenesis D009389||pathological neovascularization D009389||pathologic angiogenesis D009389||pathologic neovascularization C536618||say barber miller syndrome C536618||microcephaly hypogammaglobulinemia abnormal immunity D057180|600274||frontotemporal dementia D057180|600274||complex disinhibition dementia parkinsonism amyotrophy D057180|600274||complex disinhibition dementia parkinsonism amytrophy D057180|600274||complices disinhibition dementia parkinsonism amyotrophy D057180|600274||complices disinhibition dementia parkinsonism amytrophy D057180|600274||ddpac D057180|600274||dementia frontotemporal D057180|600274||dementia frontotemporal lobe D057180|600274||dementia frontotemporal lobe fldem D057180|600274||dementia frontotemporal with parkinsonism D057180|600274||dementia grn related frontotemporal D057180|600274||dementia hereditary dysphasic disinhibition D057180|600274||dementia semantic D057180|600274||dementias frontotemporal D057180|600274||dementias frontotemporal lobe D057180|600274||dementias frontotemporal lobe fldem D057180|600274||dementias grn related frontotemporal D057180|600274||dementias semantic D057180|600274||dementias ubiquitin positive frontotemporal D057180|600274||dementia ubiquitin positive frontotemporal D057180|600274||disease familial pick apos s D057180|600274||diseases familial pick apos s D057180|600274||diseases wilhelmsen lynch D057180|600274||disease wilhelmsen lynch D057180|600274||disinhibition dementia parkinsonism amyotrophy complex D057180|600274||disinhibition dementia parkinsonism amyotrophy complices D057180|600274||disinhibition dementia parkinsonism amytrophy complex D057180|600274||disinhibition dementia parkinsonism amytrophy complices D057180|600274||familial pick disease D057180|600274||familial pick apos s disease D057180|600274||familial picks disease D057180|600274||familial pick apos s diseases D057180|600274||fldem D057180|600274|C566288||frontotemporal dementia amyotrophic lateral sclerosis D057180|600274||frontotemporal dementia grn related D057180|600274||frontotemporal dementias D057180|600274||frontotemporal dementias grn related D057180|600274||frontotemporal dementias ubiquitin positive D057180|600274|607485||frontotemporal dementia ubiquitin positive D057180|600274||frontotemporal dementia with parkinsonism D057180|600274||frontotemporal dementia with parkinsonism 17 D057180|600274||frontotemporal lobar degeneration with tau inclusions D057180|600274|607485||frontotemporal lobar degeneration with ubiquitin positive inclusions D057180|600274||frontotemporal lobe dementia D057180|600274||frontotemporal lobe dementia fldem D057180|600274||frontotemporal lobe dementias D057180|600274||frontotemporal lobe dementias fldem D057180|600274||ftd D057180|600274||ftd als D057180|600274||ftd grn D057180|600274||ftdp17 D057180|600274||ftdp 17 D057180|600274||ftd pgrn D057180|600274||ftld 17 grn D057180|600274||ftld tdp D057180|600274||ftld with tau inclusions D057180|600274||ftld with tdp 43 pathology D057180|600274||grn related frontotemporal dementia D057180|600274||grn related frontotemporal dementias D057180|600274||hddd1 D057180|600274||hddd2 D057180|600274||hereditary dysphasic disinhibition dementia D057180|600274||lobe dementia frontotemporal D057180|600274||lobe dementias frontotemporal D057180|600274||mstd D057180|600274||multiple system tauopathy with presenile dementia D057180|600274||pallidopontonigral degeneration ppnd pick complex included D057180|600274||pick apos s disease familial D057180|600274||pick apos s diseases familial D057180|600274||semantic dementia D057180|600274||semantic dementias D057180|600274||ubiquitin positive frontotemporal dementia D057180|600274||ubiquitin positive frontotemporal dementias D057180|600274||wilhelmsen lynch disease D057180|600274||wilhelmsen lynch diseases D057180|600274||wld C536619||say field coldwell syndrome C536619||triphalangeal thumbs and dislocation of patella D009386||neoplastic syndromes hereditary D009386||cancer syndrome hereditary D009386||cancer syndromes hereditary D009386||hereditary cancer syndrome D009386||hereditary cancer syndromes D009386||hereditary neoplastic syndrome D009386||hereditary neoplastic syndromes D009386||neoplastic syndrome hereditary D009386||syndrome hereditary cancer D009386||syndrome hereditary neoplastic D009386||syndromes hereditary cancer D009386||syndromes hereditary neoplastic D009385||neoplastic processes D009385||processes neoplastic D009384||paraneoplastic endocrine syndromes D009384||ectopic hormone syndrome D009384||ectopic hormone syndromes D009384||endocrine syndrome paraneoplastic D009384||paraneoplastic endocrine syndrome D009384||syndrome ectopic hormone D009384||syndrome paraneoplastic endocrine D009384||syndromes ectopic hormone D009384||syndromes paraneoplastic endocrine D009383||neoplasms vascular tissue D009383||blood vessel tumor D009383||blood vessel tumors D009383||neoplasm vascular tissue D009383||tumor blood vessel D009383||tumors blood vessel D009383||vascular tissue neoplasm D009383||vascular tissue neoplasms D009382||neoplasms unknown primary D009382||neoplasm metastasis unknown primary D009382||neoplasm occult primary D009382||neoplasms occult primary D009382||neoplasm unknown primary D009382||occult primary neoplasm D009382||occult primary neoplasms D009382||primary neoplasm occult D009382||primary neoplasms occult D009382||primary neoplasms unknown D009382||primary neoplasm unknown D009382||primary tumors unknown D009382||primary tumor unknown D009382||tumors unknown primary D009382||tumor unknown primary D009382||unknown primary neoplasm D009382||unknown primary neoplasm metastasis D009382||unknown primary neoplasms D009382||unknown primary tumor D009382||unknown primary tumors D008052||lipid metabolism inborn errors D008052||lipid metabolism inborn error C563930|600513||epilepsy nocturnal frontal lobe type 1 C563930|600513||enfl1 C563930|600513||epilepsy nocturnal frontal lobe 1 D009381||neoplasms radiation induced D009381||cancer radiation induced D009381||cancers radiation induced D009381||neoplasm radiation induced D009381||radiation induced cancer D009381||radiation induced cancers D009381||radiation induced neoplasm D009381||radiation induced neoplasms C537944||cerebral hemorrhage with amyloidosis hereditary dutch type D009380||neoplasms nerve tissue D009380||neoplasm nerve tissue D009380||neoplasm nervous tissue D009380||neoplasms nervous tissue D009380||nerve tissue neoplasm D009380||nerve tissue neoplasms D009380||nervous tissue neoplasm D009380||nervous tissue neoplasms C537941||chromosome 8 partial trisomy C537941||partial trisomy 8 C537941||trisomy partial 8 C536610||familial cerebral cavernous malformation C536610||familial cavernous hemangioma C536610||familial cerebral cavernous angioma C537942||chromosome 8 trisomy C537942||chromosome 8 duplication C537942||trisomy 8 D054740||dendritic cell sarcoma follicular D054740||follicular dendritic cell sarcoma C537947||cerebrospinal fluid leak C537947||spinal cerebrospinal fluid leak C536616||satoyoshi syndrome C536616||komuragaeri disease C536616||muscle spasms intermittent with alopecia diarrhea and skeletal abnormalities D054747||histiocytic sarcoma D054747||histiocytic lymphomas true D054747||histiocytic lymphoma true D054747||histiocytic sarcomas D054747||histiocytoses malignant D054747||histiocytoses true malignant D054747||histiocytosis malignant D054747||histiocytosis true malignant D054747||lymphomas true histiocytic D054747||lymphoma true histiocytic D054747||malignant histiocytoses D054747||malignant histiocytoses true D054747||malignant histiocytosis D054747||malignant histiocytosis true D054747||sarcoma histiocytic D054747||sarcomas histiocytic D054747||true histiocytic lymphoma D054747||true histiocytic lymphomas D054747||true malignant histiocytoses D054747||true malignant histiocytosis D011694||purpura hyperglobulinemic D011694||benign hyperglobulinemic purpura of waldenstr 246 m D011694||hypergammaglobulinemic purpura of waldenstrom D011694||hyperglobulinemic purpura D011694||hyperglobulinemic purpura of waldenstr 246 m D011694||hyperglobulinemic purpuras D011694||hyperglobulinemic purpura waldenstrom D011694||purpuras hyperglobulinemic D011694||purpura waldenstrom hyperglobulinemic D011694||waldenstrom hypergammaglobulinemic purpura D011694||waldenstrom hyperglobulinemic purpura D011694||waldenstr 246 m hyperglobulinemic purpura C537948||ceroid lipofuscinosis neuronal 1 infantile C537948||infantile neuronal ceroid lipofuscinosis incl C537948||neuronal ceroid lipofuscinosis infantile finnish type C537948||santavuori disease C536617||saul wilkes stevenson syndrome D011693||purpura D011693||petechiae D011693||purpuras C537945||cerebral palsy spastic diplegic C537945||spastic diplegia cerebral palsy D011696||purpura thrombocytopenic D011696||purpuras thrombocytopenic D011696||purpuras thrombopenic D011696||purpura thrombopenic D011696||thrombocytopenic purpura D011696||thrombocytopenic purpuras D011696||thrombopenic purpura D011696||thrombopenic purpuras D010282|608266||parathyroid neoplasms D010282|608266||adenoma parathyroid D010282|608266||adenomas parathyroid D010282|608266||cancer of parathyroid D010282|608266||cancer of the parathyroid D010282|608266||cancer parathyroid D010282|608266||cancers parathyroid D010282|608266||carcinoma parathyroid D010282|608266||carcinomas parathyroid D010282|608266||neoplasm parathyroid D010282|608266||neoplasms parathyroid D010282|608266||parathyroid adenoma D010282|608266||parathyroid adenomas D010282|608266||parathyroid cancer D010282|608266||parathyroid cancers D010282|608266||parathyroid carcinoma D010282|608266||parathyroid carcinomas D010282|608266||parathyroid neoplasm D010282|608266||prtc C537946||cerebral sarcoma C537946||familial cerebral sarcomas D011695||purpura schoenlein henoch D011695||allergic purpura D011695||anaphylactoid purpura D011695||hemorrhagica purpura D011695||hemorrhagic vasculitis D011695||henoch purpura D011695||henoch schoenlein purpura D011695||henoch schonlein purpura D011695||henoch schonlein purpuras D011695||nonthrombocytopenic purpura D011695||nonthrombopenic purpura D011695||nonthrombopenic purpuras D011695||purpura allergic D011695||purpura anaphylactoid D011695||purpura hemorrhagica D011695||purpura henoch D011695||purpura henoch schoenlein D011695||purpura henoch schonlein D011695||purpura nonthrombocytopenic D011695||purpura nonthrombopenic D011695||purpura rheumatoid D011695||purpura schonlein henoch D011695||purpuras henoch schonlein D011695||purpuras nonthrombopenic D011695||purpuras schonlein henoch D011695||rheumatoid purpura D011695||schoenlein henoch purpura D011695||schonlein henoch purpura D011695||schonlein henoch purpuras D011695||schonlein purpura henoch D011695||schonlein purpuras henoch D011695||vasculitis hemorrhagic C537961||calcifying epithelial odontogenic tumor C537961||pindborg tumor C536630||schimke x linked mental retardation syndrome C536630||childhood onset choreoathetosis with spasticity postnatal microcephaly growth and mental retardation ophthalmoplegia and deafness C536630||choreoathetosis with mental retardation x linked C536630||progressive basal ganglion dysfunction mental and growth retardation external ophthalmoplegia postnatal microcephaly and deafness C537962||calloso genital dysplasia C537962||primary amenorrhoea with coloboma and total agenesis of the corpus callosum C535300||autosomal dominant compelling helio ophthalmic outburst syndrome C535300||autosomal dominant compelling helioophthalmic outburst syndrome C535300||peroutka sneeze C535300||photic sneeze reflex C537960||calabro syndrome C562925||collagenoma familial cutaneous C566556|602390||hemochromatosis type 2a C566556|602390||hemochromatosis juvenile included C566556|602390||hemochromatosis type 2 included C566556|602390||hfe2a C566556|602390||hfe2 included C566556|602390||jh included D012035|266500||refsum disease D012035|266500||adult refsum disease D012035|266500||adult refsum diseases D012035|266500||classic refsum disease D012035|266500||classic refsum diseases D012035|266500||disease adult refsum D012035|266500||disease classic refsum D012035|266500||disease refsum D012035|266500||disease refsum apos s D012035|266500||diseases adult refsum D012035|266500||diseases classic refsum D012035|266500||hemeralopia heredoataxia polyneuritiformis D012035|266500||hereditary motor and sensory neuropathy iv D012035|266500||hereditary motor and sensory neuropathy type iv D012035|266500||hereditary type iv motor and sensory neuropathy D012035|266500||heredoataxia polyneuritiformis hemeralopia D012035|266500||heredopathia atactica polyneuritiformis D012035|266500||hmsn 4 D012035|266500||hmsn iv D012035|266500||hmsn ivs D012035|266500||hmsn type iv D012035|266500||hsmn4 D012035|266500||neuropathy hereditary motor and sensory type iv D012035|266500||phytanic acid oxidase deficiency D012035|266500||phytanic acid storage disease D012035|266500||polyneuritiformis hemeralopia heredoataxia D012035|266500||polyneuritiformis heredopathia atactica D012035|266500||refsum disease adult D012035|266500|C567602||refsum disease adult 1 D012035|266500||refsum disease classic D012035|266500||refsum disease phytanic acid oxidase deficiency D012035|266500||refsum disease phytanoyl coa hydroxylase deficiency D012035|266500||refsum diseases adult D012035|266500||refsum diseases classic D012035|266500||refsum apos s disease D012035|266500||refsums disease D012035|266500||refsum apos s syndrome D012035|266500||refsums syndrome D012035|266500||refsum syndrome D012035|266500||refsum thiebaut syndrome D012035|266500||refsum thiebaut syndromes D012035|266500||syndrome refsum D012035|266500||syndrome refsum apos s D012035|266500||syndrome refsum thiebaut D012035|266500||syndromes refsum thiebaut D010378||pedophilia D010378||pedophilias D008068||lipomatosis D008068||lipomatoses D008069||lipomatosis multiple symmetrical D008069||cephalothoracic lipodystrophies D008069||cephalothoracic lipodystrophy D008069||circumscribed lipomatoses nodular D008069||circumscribed lipomatosis nodular D008069||disease madelung D008069||disease madelung apos s D008069||lipodystrophies cephalothoracic D008069||lipodystrophy cephalothoracic D008069||lipomatoses multiple symmetric D008069||lipomatoses multiple symmetrical D008069||lipomatoses nodular circumscribed D008069||lipomatosis familial benign cervical D008069||lipomatosis multiple symmetric D008069||lipomatosis nodular circumscribed D008069||madelung disease D008069||madelung neck D008069||madelung apos s disease D008069||madelungs disease D008069||madelung apos s neck D008069||madelungs neck D008069||multiple symmetrical lipomatoses D008069||multiple symmetrical lipomatosis D008069||multiple symmetric lipomatoses D008069||multiple symmetric lipomatosis D008069||nodular circumscribed lipomatoses D008069||nodular circumscribed lipomatosis D008069||symmetrical lipomatoses multiple D008069||symmetrical lipomatosis multiple D008069||symmetric lipomatoses multiple D008069||symmetric lipomatosis multiple D034321||hyperamylasemia D034321||macroamylasemia D009397||nephrocalcinosis D009397||nephrocalcinoses D008067|151900||lipoma D008067||atypical lipoma D008067||atypical lipomas D008067||fatty tumor D008067||fatty tumors D008067||hibernoma D008067||hibernomas D008067||lipoma atypical D008067||lipoma pleomorphic D008067||lipomas D008067||lipomas atypical D008067||lipomas pleomorphic D008067||lipomata D008067||lipomatas D008067|151900||lipomatosis multiple D008067||pleomorphic lipoma D008067||pleomorphic lipomas D008067||tumor fatty D008067||tumors fatty C538582|101600||pfeiffer type acrocephalosyndactyly C538582|101600||acrocephalosyndactyly type 5 C538582|101600|101200|D000168||acrocephalosyndactyly type v C538582|101600||acs5 C538582|101600||acs v C538582|101600||noack syndrome craniofacial skeletal dermatologic dysplasia included C538582|101600|101200|D000168||pfeiffer syndrome D008064||lipidoses D008064||lipidosis D008064||lipoidosis D009395||nephritis interstitial D009395||interstitial nephritides D009395||interstitial nephritis D009395||nephritides interstitial D009395||nephritides tubulointerstitial D009395||nephritis tubulointerstitial D009395||tubulointerstitial nephritides D009395||tubulointerstitial nephritis D014929|222300||wolfram syndrome D014929|222300||diabetes insipidus and mellitus with optic atrophy and deafness D014929|222300||diabetes insipidus diabetes mellitus optic atrophy and deafness D014929|222300||didmoad D014929|222300||didmoad syndrome D014929|222300||didmoadud D014929|222300||syndrome wolfram D014929|222300||wfs D014929|222300||wfs1 D014929|222300||wolfram syndrome 1 D004819|226400||epidermodysplasia verruciformis D004819|226400||disease lewandowsky lutz D004819|226400||disease lutz lewandowsky D004819|226400||ev D004819|226400||ever D004819|226400||lewandowsky lutz disease D004819|226400||lutz lewandowsky disease D009394||nephritis hereditary D009394||alport apos s syndrome D009394||alport syndrome D009394|C536586|104200||alport syndrome autosomal dominant D009394|C536587|203780||alport syndrome autosomal recessive D009394||congenital hereditary hematuria D009394||familial nephritis D009394||hematuria congenital hereditary D009394||hematuria nephropathy deafness syndrome D009394||hematuric hereditary nephritis D009394||hemorrhagic familial nephritis D009394||hemorrhagic hereditary nephritis D009394||hereditary familial congenital hemorrhagic nephritis D009394||hereditary hematuria syndrome D009394||hereditary interstitial pyelonephritis D009394||hereditary nephritis D009394||nephritis familial D009394||nephritis hematuric hereditary D009394||nephritis hemorrhagic familial D009394||nephritis hemorrhagic hereditary D009394||pyelonephritis hereditary interstitial D009394||syndrome alport D009394||syndrome hematuria nephropathy deafness D009394||x linked alport syndrome D009393||nephritis D009393||nephritides C536868|601162||spastic paraplegia 9 autosomal dominant C536868|601162||autosomal dominant spastic paraparesis C536868|601162||bilateral cataracts gastroesophageal reflux and spastic paraparesis with amyotrophy C536868|601162||cataracts motor neuronopathy short stature and skeletal abnormalities C536868|601162||cataracts with motor neuronopathy short stature and skeletal abnormalities C536868|601162||spastic paraparesis with amyopathy cataracts and gastroesophageal reflux C536868|601162||spg9 C536623||scalp ear nipple syndrome C536623||finlay marks syndrome C536623||hereditary syndrome of lumpy scalp odd ears and rudimentary nipples D008060||lipodystrophy D008060||lipodystrophies C536624||scapuloperoneal myopathy C536624||myopathy scapuloperoneal C536624|181430||scapuloperoneal syndrome myopathic type D008061||whipple disease D008061||disease whipple D008061||disease whipple apos s D008061||intestinal lipodystrophy D008061||lipodystrophy intestinal D008061||whipple apos s disease D008061||whipples disease C536621||say syndrome C536621||cleft palate large ears small head C536621||cleft palate microcephaly large ears and short stature C536621||say barber hobbs syndrome C537356|156530||metatropic dwarfism C537356|156530||metatropic dysplasia C537356|156530||metatropic dysplasia 1 C537356|156530||metatropic dysplasia type 1 D054752||langerhans cell sarcoma D054752||langerhans cell sarcomas D054752||sarcoma langerhans cell D054752||sarcomas langerhans cell D053421||hand arm vibration syndrome D053421||hand arm vibration syndromes D053421||syndrome hand arm vibration D053421||syndromes hand arm vibration D053421||vibration syndrome hand arm D053421||vibration syndromes hand arm C536622||scalp defects postaxial polydactyly C536622||congenital scalp defects associated with postaxial polydactyly C536622||scalp defects and postaxial polydactyly D036981||fasciitis plantar D036981||chronic plantar fasciitis D036981||fasciitis chronic plantar D036981||fasciitis plantar chronic D036981||heel spur syndrome D036981||plantar fasciitis D036981||plantar fasciitis chronic C536627||schaefer stein oshman syndrome C536627||craniodiaphyseal dysplasia dominant C536627||dominantly inherited craniodiaphyseal dysplasia D036982||heel spur D036982||calcaneal spur D036982||calcaneal spurs D036982||heel spurs D036982||spur calcaneal D036982||spur heel D036982||spurs calcaneal D036982||spurs heel C537959||cahmr syndrome C537959||cataract hypertrichosis mental retardation syndrome D010373||lice infestations D010373||infestation lice D010373||infestations lice D010373||lice infestation D010373||pediculoses D010373||pediculosis C537956||cervical hypertrichosis neuropathy C536625||scarf syndrome C536625||skeletal abnormalities cutis laxa craniostenosis ambiguous genitalia retardation and facial abnormalities C537957||acute fatty liver of pregnancy C537957||acute fatty liver gestational C536626||schaap taylor baraitser syndrome C536626||cataracts sensorineural deafness hypogonadism hypertrichosis and short stature C565166||c9 deficiency with dermatomyositis C537972||camptodactyly taurinuria C537972||camptodactyly with taurinuria C537973||camptodactyly vertebral fusion C537973||camptodactyly and sacral vertebral fusion C563855|608804||leukodystrophy hypomyelinating 2 C563855|608804||hld2 C563855|608804||pelizaeus merzbacher like disease 1 C563855|608804||pmld1 C537970||camptodactyly syndrome guadalajara type 1 C537970||camptodactyly syndrome guadalajara type i C537970||facio thoraco skeletal syndrome C537970||faciothoracoskeletal syndrome C537970||guadalajara camptodactyly syndrome C537970||guadalajara camptodactyly syndrome type 1 C565169|613779||complement component 3 deficiency autosomal recessive C565169|613779||c3 deficiency autosomal recessive C537971||camptodactyly syndrome guadalajara type 2 C537971||guadalajara camptodactyly syndrome type 2 C535440|210370||bietti crystalline dystrophy C535440|210370||bcd C535440|210370||bietti crystalline corneoretinal dystrophy C535440|210370||bietti crystalline retinopathy C535440|210370||bietti apos s crystalline corneoretinal dystrophy C535440|210370||bietti apos s crystalline dystrophy C535440|210370||bietti tapetoretinal degeneration with marginal corneal dystrophy C567319|612406||dystonia 17 torsion autosomal recessive C567319|612406||dyt17 D009358||congenital hereditary and neonatal diseases and abnormalities D009358||congenital disorder D009358||congenital disorders D009358||disorder congenital D009358||disorders congenital D009358||neonatal diseases and abnormalities D009357||neonatal abstinence syndrome D009357||abstinence syndrome neonatal D009357||abstinence syndromes neonatal D009357||addiction neonatal passive D009357||addictions neonatal passive D009357||neonatal abstinence syndromes D009357||neonatal passive addiction D009357||neonatal passive addictions D009357||neonatal substance withdrawal D009357||neonatal substance withdrawals D009357||neonatal withdrawal syndrome D009357||neonatal withdrawal syndromes D009357||passive addiction neonatal D009357||passive addictions neonatal D009357||substance withdrawal neonatal D009357||substance withdrawals neonatal D009357||syndrome neonatal abstinence D009357||syndrome neonatal withdrawal D009357||syndromes neonatal abstinence D009357||syndromes neonatal withdrawal D009357||withdrawal neonatal substance D009357||withdrawal syndrome neonatal D009357||withdrawal syndromes neonatal D009366||neoplasm seeding D009366||seeding neoplasm D009365||neoplasm regression spontaneous D009365||neoplasm remission spontaneous D009365||regression spontaneous neoplasm D009365||remission spontaneous neoplasm D009365||spontaneous neoplasm regression D009365||spontaneous neoplasm remission C562938|156250||metachondromatosis C562938|156250||metcds D009364||neoplasm recurrence local D009364||local neoplasm recurrence D009364||local neoplasm recurrences D009364||locoregional neoplasm recurrence D009364||locoregional neoplasm recurrences D009364||neoplasm recurrence locoregional D009364||neoplasm recurrences local D009364||neoplasm recurrences locoregional D009364||recurrence local neoplasm D009364||recurrence locoregional neoplasm D009364||recurrences local neoplasm D009364||recurrences locoregional neoplasm D009362||neoplasm metastasis D009362||metastases D009362||metastases neoplasm D009362||metastasis D009362||metastasis neoplasm D009362||neoplasm metastases D009361||neoplasm invasiveness D009361||invasion neoplasm D009361||invasiveness neoplasm D009361||neoplasm invasion C535308|210200||3 methylcrotonyl coa carboxylase 1 deficiency C535308|210200||3 alpha methylcrotonylglycinuria 1 C535308|210200||3 mcc deficiency C535308|210200||3 methylcrotonyl coa carboxylase deficiency C535308|210200||3 methylcrotonyl coenzyme a carboxylase deficiency C535308|210200||3 methylcrotonylglycinuria C535308|210200||3 methylcrotonylglycinuria i C535308|210200||bmcc deficiency C535308|210200||deficiency of methylcrotonoyl coa carboxylase C535308|210200||mcc1 deficiency C535308|210200||mcc deficiency C535308|210200||mccd type 1 C535308|210200||methylcrotonoyl coa carboxylase 1 deficiency C535308|210200||methylcrotonyl coa carboxylase deficiency C535308|210200||methylcrotonylglycinuria type i D009360||neoplastic cells circulating D009360||cell circulating neoplastic D009360||cell circulating tumor D009360||cell embolic tumor D009360||cell neoplasm circulating D009360||cells circulating neoplastic D009360||cells circulating tumor D009360||cells embolic tumor D009360||cells neoplasm circulating D009360||circulating cells neoplasm D009360||circulating neoplastic cell D009360||circulating neoplastic cells D009360||circulating tumor cell D009360||circulating tumor cells D009360||embolic tumor cell D009360||embolic tumor cells D009360||embolisms tumor D009360||embolism tumor D009360||neoplasm circulating cell D009360||neoplasm circulating cells D009360||neoplastic cell circulating D009360||tumor cell circulating D009360||tumor cell embolic D009360||tumor cells circulating D009360||tumor cells embolic D009360||tumor embolism D009360||tumor embolisms C565173||coloboma uveal with cleft lip and palate and mental retardation C537965||camfak syndrome C537965||cataract microcephaly failure to thrive kyphoscoliosis C537965||cataract microcephaly failure to thrive kyphoscoliosis syndrome C536634||schizotaxia C537966||campomelia cumming type C537966||cervical lymphocele with bowed long bones C537966||cumming syndrome C536635||schlegelberger grote syndrome C536635||syndrome with triphalangia of thumbs thrombasthenia glanzmann and deafness of internal ear C536635||triphalangeal thumbs thrombocytopathy deafness C537963||calvarial hyperostosis C537963||isolated hyperostosis of the calvarium C537964||camera marugo cohen syndrome C536633||schisis association C536633||midline development field defects C537969||camptodactyly joint contractures and facial skeletal dysplasia C536638||scholte syndrome C536638||early balding patella luxation acromicria and hypogonadism C565170||complement component c1s deficiency C565170||c1s deficiency C536639||schrander stumpel theunissen hulsmans syndrome C536639||vitiligo psychomotor retardation cleft palate and facial dysmorphism C536639||vitiligo vulgaris cleft palate somatic and psychomotor retardation and facial dysmorphism C535305||2 hydroxyethyl methacrylate sensitization C535305||sensitization to 2 hydroxyethyl methacrylate D011671||pulpitis D011671||endodontic inflammation D011671||endodontic inflammations D011671||inflammation endodontic D011671||inflammations endodontic D011671||pulpitides C537967||camptobrachydactyly C537967||short foot brachydactyly of toes camptodactyly brachydactyly C565172||colonic varices without portal hypertension D018288|182280||carcinoma small cell D018288|182280||carcinoma oat cell D018288|182280||carcinomas oat cell D018288|182280||carcinomas small cell D018288|182280||oat cell carcinoma D018288|182280||oat cell carcinomas D018288|182280||sccl D018288|182280||sclc D018288|182280||sclc1 D018288|182280||small cell carcinoma D018288|182280||small cell carcinomas C537968||camptocormia C537968||bent spine C537968||bent spine syndrome C537968||camptocormism C535307||2 methylacetoacetyl coa thiolase deficiency C564907|260450||pancreatic insufficiency combined exocrine C537980||canomad syndrome C565177||stickler syndrome autosomal recessive col9a1 related C565178||oi eds combined syndrome C536653||penttinen aula syndrome C536653||premature aging syndrome penttinen type C565179||vitreoretinopathy with phalangeal epiphyseal dysplasia C537981||cantalamessa baldini ambrosi syndrome C537981||primary gonadal failure short stature mitral valve prolapse and mental retardation C536650||penoscrotal transposition C536650||congenital transposition of the penis C536650||prepenile scrotum C535322||5 oxoprolinase deficiency C535322||5 alpha oxoprolinase deficiency C535322||oxoprolinuria due to 5 oxoprolinase deficiency C535322||oxoprolinuria due to oxoprolinase deficiency C535321||5 nucleotidase syndrome C535321||5 apos nucleotidase syndrome C536050|166250||osteoglophonic dwarfism C536050|166250||fairbank keats syndrome C536050|166250||ogd C536050|166250||osteoglophonic dysplasia C563914|608545||larsen like syndrome C563914|608545||lrsl C562900|C536826|137950||glomerulopathy with giant fibrillar deposits C562900|C536826|137950||glomerulopathy with fibronectin deposits 1 C562900|C536826|137950||lobular glomerulopathy familial D008039||linitis plastica D009369||neoplasms D009369||benign neoplasm D009369||benign neoplasms D009369||cancer D009369||other cancers D009369||cancers D009369||neoplasia D009369||neoplasm D009369||neoplasm benign D009369||neoplasms benign D009369||tumor D009369||tumors C562902||oligosynaptic infertility C562902||oligochiasmic infertility C562907||twenty nail dystrophy C562907||onychodystrophy totalis isolated D009378||neoplasms multiple primary D009378||multiple primary neoplasm D009378||multiple primary neoplasms D009378||multiple primary neoplasms synchronous D009378||neoplasm multiple primary D009378||neoplasms synchronous D009378||neoplasms synchronous multiple primary D009378||neoplasm synchronous D009378||primary neoplasm multiple D009378||primary neoplasms multiple D009378||synchronous multiple primary neoplasms D009378||synchronous neoplasm D009378||synchronous neoplasms D011686||purine pyrimidine metabolism inborn errors D009377||multiple endocrine neoplasia D009377||adenomatoses familial endocrine D009377||adenomatoses multiple endocrine D009377||adenomatosis familial endocrine D009377||adenomatosis multiple endocrine D009377||adenopathies multiple endocrine D009377||adenopathy multiple endocrine D009377||endocrine adenomatoses familial D009377||endocrine adenomatoses multiple D009377||endocrine adenomatosis familial D009377|131100|D018761||endocrine adenomatosis multiple D009377||endocrine adenopathies multiple D009377||endocrine adenopathy multiple D009377||endocrine neoplasia multiple D009377||endocrine neoplasms multiple D009377||familial endocrine adenomatoses D009377||familial endocrine adenomatosis D009377||multiple endocrine adenomatoses D009377||multiple endocrine adenomatosis D009377||multiple endocrine adenopathies D009377||multiple endocrine adenopathy D009377||multiple endocrine neoplasia syndromes D009377||multiple endocrine neoplasms D009377||neoplasia multiple endocrine D009377||neoplasms multiple endocrine D008047||lip diseases D008047||disease lip D008047||diseases lip D008047||lip disease D009376||neoplasms hormone dependent D009376||hormone dependent neoplasm D009376||hormone dependent neoplasms D009376||neoplasm hormone dependent D009375||neoplasms glandular and epithelial D009375||epithelial neoplasm D009375||epithelial neoplasm glandular D009375||epithelial neoplasms D009375||epithelial neoplasms glandular D009375||glandular and epithelial neoplasms D009375||glandular epithelial neoplasm D009375||glandular epithelial neoplasms D009375||glandular neoplasm D009375||glandular neoplasms D009375||neoplasm epithelial D009375||neoplasm glandular D009375||neoplasm glandular epithelial D009375||neoplasms epithelial D009375||neoplasms glandular D009375||neoplasms glandular epithelial D009374||neoplasms experimental D009374||experimental neoplasm D009374||experimental neoplasms D009374||neoplasm experimental D009373||neoplasms germ cell and embryonal D009373||cancer embryonal D009373||cancer embryonal and mixed D009373||cancer germ cell D009373||cancers embryonal D009373||cancers germ cell D009373||embryonal cancer D009373||embryonal cancers D009373||embryonal neoplasm D009373||embryonal neoplasms D009373||germ cell and embryonal neoplasms D009373||germ cell and embryonic neoplasms D009373||germ cell cancer D009373||germ cell cancers D009373||germ cell neoplasms D009373||germ cell tumor D009373||germ cell tumors D009373||neoplasm embryonal D009373||neoplasms embryonal D009373||neoplasms embryonal and mixed D009373||neoplasms germ cell D009373||neoplasms germ cell and embryonic D009373||tumor germ cell D009373||tumors germ cell C562909||pseudoatrophoderma colli D009372||neoplasms connective tissue D009372||connective tissue neoplasm D009372||connective tissue neoplasms D009372||neoplasm connective tissue D009371||neoplasms by site D009371||neoplasms by sites D009371||neoplasm site D009371||neoplasm sites D009371||site neoplasm D009371||sites neoplasm C537976||camptodactyly ichthyosis syndrome C535313||3c syndrome C535313||ccc dysplasia C535313||craniocerebellocardiac dysplasia C535313||dandy walker like malformation with atrioventricular septal defect C535313||ritscher schinzel syndrome D009370||neoplasms by histologic type D009370||histological type of neoplasm D009370||histological types of neoplasms D009370||neoplasm histological type D009370||neoplasm histological types D009370||neoplasms by histological type D009370||neoplasms histological type D009370||neoplasms histological types C537977||camptomelic syndrome long limb type C537977||campomelic syndrome long limb type C536646||pena shokeir syndrome type 2 C535312||3 hydroxyisobutyric aciduria 612529|C567279||amelogenesis imperfecta hypomaturation type iia2 612529|C567279||ai2a2 612529|C567279||amelogenesis imperfecta pigmented hypomaturation type 2 C537974||camptodactyly fibrous tissue hyperplasia and skeletal dysplasia C537974||camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia C562601|223100||lactose intolerance adult type C562601|223100||adult lactase deficiency C562601|223100||disaccharide intolerance iii C562601|223100||disaccharide intolerance iii lactase persistence included C562601|223100||hypolactasia adult type C535315||4 hydroxyphenylacetic aciduria D011681||pupil disorders D011681||abnormal pupillary function D011681||abnormal pupillary functions D011681||afferent pupillary defect D011681||afferent pupillary defects D011681||anomalies pupillary D011681||anomaly pupillary D011681||argyll robertson pupil non syphilitic D011681||deformed pupil D011681||deformed pupils D011681||ectopic pupil D011681||ectopic pupils D011681||efferent pupillary defect D011681||efferent pupillary defects D011681||fixed pupil D011681||fixed pupils D011681||hemianopic pupil wernicke D011681||hemianopic pupil wernicke apos s D011681||keyhole pupil D011681||keyhole pupils D011681||malformation pupil D011681||malformations pupil D011681||marcus gunn pupil D011681||non syphilitic argyll robertson pupil D011681||occluded pupil D011681||occluded pupils D011681||occlusion pupillary D011681||occlusions pupillary D011681||paralyses pupillary D011681||paralyses pupillary sector D011681||paralysis pupillary D011681||paralysis pupillary sector D011681||pupil deformed D011681||pupil disorder D011681||pupil ectopic D011681||pupil fixed D011681||pupil keyhole D011681||pupillary anomalies D011681||pupillary anomaly D011681||pupillary defect afferent D011681||pupillary defect efferent D011681||pupillary defects afferent D011681||pupillary defects efferent D011681||pupillary disorder D011681||pupillary disorders D011681||pupillary function abnormal D011681||pupillary functions abnormal D011681||pupillary occlusion D011681||pupillary occlusions D011681||pupillary paralyses D011681||pupillary paralysis D011681||pupillary sector paralyses D011681||pupillary sector paralysis D011681||pupillary sphincter rupture D011681||pupillary sphincter ruptures D011681||pupil malformation D011681||pupil malformations D011681||pupil marcus gunn D011681||pupil non syphilitic argyll robertson D011681||pupil occluded D011681||pupil reaction absent D011681||pupils deformed D011681||pupils ectopic D011681||pupils fixed D011681||pupils keyhole D011681||pupils occluded D011681||pupil wernicke hemianopic D011681||pupil wernicke apos s hemianopic D011681||reaction absent pupil D011681||reaction absents pupil D011681||rupture pupillary sphincter D011681||ruptures pupillary sphincter D011681||sector paralyses pupillary D011681||sector paralysis pupillary D011681||sector pupil palsy D011681||sphincter rupture pupillary D011681||sphincter ruptures pupillary D011681||wernicke hemianopic pupil D011681||wernicke apos s hemianopic pupil D011681||wernickes hemianopic pupil 189960|C531835||esophageal atresia with or without tracheoesophageal fistula 189960|C531835||ea tef 189960|C531835||esophageal atresia tracheoesophageal fistula 189960|C531835||tracheoesophageal fistula with or without esophageal atresia C536649||penis agenesis C536649||agenesis of the penis C536649||micropenis C536649||penis agenesia C535317||47 xyy syndrome C535317||jacob apos s syndrome C535317||xyy syndrome C535317||yy syndrome C535316||46 xx gonadal dysgenesis epibulbar dermoid D053448||prostatism C537978||camurati engelmann disease type 2 C537978||progressive diaphyseal dysplasia with striations of the bones C535319||49 xxxxx syndrome C535319||chromosome x pentasomy C535319||chromosome xxxxx syndrome C535319||pentasomy x C535319||pentasomy x syndrome C535319||penta x syndrome D053447||channelopathies D053447||channelopathy C535318||triple x syndrome C535318||47 xxx C535318||47 xxx syndrome C535318||super female C535318||triple x chromosome syndrome C535318||triple x female C535318||triplo x syndrome C535318||trisomy x C535318||xxx syndrome C565148||coxoauricular syndrome C565149||spondylocostal dysostosis 4 autosomal dominant C565149||costovertebral segmentation anomalies C565144||craniorhiny C566476||chromosome 17q21 31 deletion syndrome C566476||17q21 31 deletion syndrome C566476||17q21 31 microdeletion syndrome C566476||chromosome 17q21 31 microdeletion syndrome C566476||koolen de vries syndrome C566476||koolen syndrome C566476||microdeletion 17q21 31 syndrome C566476||monosomy 17q21 31 C565147||cranioacrofacial syndrome C563732|609340||spastic paraplegia 28 autosomal recessive C563732|609340||spg28 148350|C536152||keratoderma palmoplantar deafness 148350|C536152||diffuse palmoplantar keratoderma with deafness 148350|C536152||focal palmoplantar keratoderma with sensorineural deafness 148350|C536152||hereditary palmoplantar keratoderma with deafness 148350|C536152||keratoderma palmoplantar with deafness 148350|C536152||palmoplantar keratoderma and sensorineural deafness 609053|C563802||fanconi anemia complementation group i 609053|C563802||fanci D009336||necrosis D009336||necroses D009335||necrobiosis lipoidica D009335||diabeticorum necrobiosis lipoidica D009335||necrobiosis lipoidica diabeticorum D011654||pulmonary edema D011654||edema pulmonary D011654||edemas pulmonary D011654||lungs wet D011654||lung wet D011654||pulmonary edemas D011654||wet lung D011654||wet lungs D012560|605419||schizophrenia catatonic D012560|605419||catatonia periodic D012560|605419||catatonic schizophrenia D012560|605419||catatonic schizophrenias D012560|605419||schizophrenia 10 D012560|605419||schizophrenias catatonic D012560|605419||schizophrenia susceptibility locus chromosome 15q15 related D012560|605419||sczd10 C537908||barber say syndrome C537908||hypertrichosis atrophic skin ectropion and macrostomia D010322||parvoviridae infections D010322||infection parvoviridae D010322||infection parvovirus D010322||infections parvoviridae D010322||infections parvovirus D010322||parvoviridae infection D010322||parvovirus infection D010322||parvovirus infections C537905||baraitser brett piesowicz syndrome C537905||microcephaly intracranial calcification D011656||pulmonary emphysema D011656||centriacinar emphysema D011656||centriacinar emphysemas D011656||centrilobular emphysema D011656||centrilobular emphysemas D011656||emphysema centriacinar D011656||emphysema centrilobular D011656||emphysema focal D011656||emphysema panacinar D011656||emphysema panlobular D011656||emphysema pulmonary D011656||emphysemas centriacinar D011656||emphysemas centrilobular D011656||emphysemas focal D011656||emphysemas panacinar D011656||emphysemas panlobular D011656||emphysemas pulmonary D011656||focal emphysema D011656||focal emphysemas D011656||panacinar emphysema D011656||panacinar emphysemas D011656||panlobular emphysema D011656||panlobular emphysemas D011656||pulmonary emphysemas C537906||baraitser rodeck garner syndrome D010324||passive aggressive personality disorder D010324||disorder negativistic personality D010324||disorder passive aggressive personality D010324||disorders negativistic personality D010324||disorders passive aggressive personality D010324||negativistic personality disorder D010324||negativistic personality disorders D010324||passive aggressive personalities D010324||passive aggressive personality D010324||passive aggressive personality disorders D010324||personalities passive aggressive D010324||personality disorder negativistic D010324||personality disorder passive aggressive D010324||personality disorders negativistic D010324||personality disorders passive aggressive D010324||personality passive aggressive D011655||pulmonary embolism D011655||embolism pulmonary D011655||embolisms pulmonary D011655||pulmonary embolisms D011655||pulmonary thromboembolism D011655||pulmonary thromboembolisms D011655||thromboembolism pulmonary D011655||thromboembolisms pulmonary D011658||pulmonary fibrosis D011658||alveolitides fibrosing D011658||alveolitis fibrosing D011658||fibroses pulmonary D011658||fibrosing alveolitides D011658||fibrosing alveolitis D011658||fibrosis pulmonary D011658||hamman rich syndrome D011658||pulmonary fibroses D011658||syndrome hamman rich D010326||pasteurella infections D010326||infection pasteurella D010326||infections pasteurella D010326||pasteurella infection D010326||pasteurelloses D010326||pasteurellosis D011657||pulmonary eosinophilia D011657||eosinophilia pulmonary D011657||eosinophilias pulmonary D011657||eosinophilic pneumonia D011657||eosinophilic pneumonias D011657||eosinophilic pneumonias tropical D011657||eosinophilic pneumonia tropical D011657||loeffler syndrome D011657||pneumonia eosinophilic D011657||pneumonias eosinophilic D011657||pulmonary eosinophilias D011657||pulmonary eosinophilia simple D011657||simple pulmonary eosinophilia D011657||simple pulmonary eosinophilias D011657||syndrome loeffler D011657||tropical eosinophilic pneumonia D011657||tropical eosinophilic pneumonias D008010||lichen planus D008010||lichen ruber planus D008010||lichen rubra planus C537909||bardet biedl syndrome 1 604091|D052456||hypoalphalipoproteinemias 604091|D052456||alpha lipoprotein deficiency disease familial 604091|D052456||alpha lipoproteinemia hypo 604091|D052456||familial alpha lipoprotein deficiency disease 604091|D052456|C538394||familial hdl deficiency 604091|D052456||familial high density lipoprotein deficiency disease 604091|D052456||familial hypoalphalipoproteinemia 604091|D052456||familial hypoalphalipoproteinemias 604091|D052456||fha 604091|D052456||fhd 604091|D052456||hdlc 604091|D052456||hdl cholesterol low serum 604091|D052456||hdld 604091|D052456||hdl lipoprotein deficiency disease 604091|D052456|C538394||high density lipoprotein deficiency 604091|D052456||high density lipoprotein deficiency disease familial 604091|D052456||hypoalphalipoproteinemia 604091|D052456||hypo alpha lipoproteinemia 604091|D052456||hypoalphalipoproteinemia familial 604091|D052456||hypoalphalipoproteinemia primary 604091|D052456||hypo alpha lipoproteinemias 604091|D052456||hypoalphalipoproteinemias familial 604091|D052456||hypoalphalipoproteinemias primary 604091|D052456||lipoprotein deficiency disease hdl familial 604091|D052456||lipoproteinemia hypo alpha 604091|D052456||lipoproteinemias hypo alpha 604091|D052456||primary hypoalphalipoproteinemias C537900||baker winegrad disease C537900||autosomal recessive fructose 1 6 diphosphatase deficiency C567438|612004||thrombocytopenia 4 C567438|612004||thc4 C567438|612004||thrombocytopenia autosomal dominant 4 C565153||coronary artery dissection spontaneous C566484||brachydactyly coloboma and anterior segment dysgenesis C537903||banti apos s syndrome C537903||banti apos s disease C537903||idiopathic congestive splenomegaly C537903||idiopathic portal hypertension C537904||bantu siderosis C537904||african iron overload C537904||hereditary iron overload and african americans C537904||iron overload in africa D012983||soft tissue neoplasms D012983||neoplasm soft tissue D012983||neoplasms soft tissue D012983||soft tissue neoplasm C566480||microphthalmia isolated with cataract 4 C566480||mcopct4 C565150||polydysspondyly C566481||cataract lamellar 2 C537902||bangstad syndrome C565155||epithelial recurrent erosion dystrophy C565155||corneal erosions recurring hereditary C565156||corneal endothelial dystrophy 1 C565157||corneal degeneration ribbonlike with deafness C565157||band keratopathy with deafness 128230|C538007||dystonia dopa responsive 128230|C538007||dopa responsive dystonia 128230|C538007||dopa responsive dystonia autosomal dominant 128230|C538007||drd 128230|C538007||dystonia 5 128230|C538007||dystonia dopa responsive autosomal dominant 128230|C538007||dystonia parkinsonism with diurnal fluctuation 128230|C538007||dystonia progressive with diurnal variation 128230|C538007||dyt5 128230|C538007||hereditary progressive dystonia with marked diurnal fluctuation 128230|C538007||segawa syndrome autosomal dominant 193900|D053529||leukokeratosis hereditary mucosal 193900|D053529||hereditary mucosal leukokeratoses 193900|D053529||hereditary mucosal leukokeratosis 193900|D053529||leukokeratoses hereditary mucosal 193900|D053529||mucosal leukokeratoses hereditary 193900|D053529||mucosal leukokeratosis hereditary 193900|D053529||white sponge nevus 1 193900|D053529||white sponge nevus of cannon 193900|D053529||wsn1 D009349||nematode infections D009349||infection nematode D009349||infections nematode D009349||nematode infection D009347||nelson syndrome C537918||femur fibula ulna syndrome D011665||pulmonary valve insufficiency D011665||incompetence pulmonary valve D011665||insufficiency pulmonary valve D011665||pulmonary regurgitation D011665||pulmonary valve incompetence D011665||pulmonary valve regurgitation D011665||regurgitation pulmonary D011665||regurgitation pulmonary valve D011665||valve incompetence pulmonary D011665||valve insufficiency pulmonary D011665||valve regurgitation pulmonary C537916||femoral facial syndrome C537916||femoral dysgenesis bilateral C537916||femoral dysgenesis bilateral robin anomaly C537916||femoral hypoplasia unusual facies syndrome C537917||femur bifid with monodactylous ectrodactyly C537917||femur unilateral bifid with monodactylous ectrodactyly C537917||gollop wolfgang complex D010335||pathologic processes D010335||pathological processes D010335||processes pathologic D010335||processes pathological D011666||pulmonary valve stenosis D011666||pulmonary stenose D011666||pulmonary stenoses D011666||pulmonary stenosis D011666||pulmonary valve stenoses D011666||pulmonic stenoses D011666||pulmonic stenoses valvular D011666||pulmonic stenosis D011666||pulmonic stenosis valvular D011666||stenose pulmonary D011666||stenoses pulmonary D011666||stenoses pulmonary valve D011666||stenoses pulmonic D011666||stenosis pulmonary D011666||stenosis pulmonary valve D011666||stenosis pulmonic D011666||valvular pulmonic stenoses D011666||valvular pulmonic stenosis D010505|249100||familial mediterranean fever D010505|249100||benign paroxysmal peritonitides D010505|249100||benign paroxysmal peritonitis D010505|249100||disease periodic D010505|249100||diseases periodic D010505|249100||disease wolff periodic D010505|249100||disease wolff apos s periodic D010505|249100||familial mediterranean fever autosomal recessive D010505|249100||familial paroxysmal polyserositides D010505|249100||familial paroxysmal polyserositis D010505|249100||fmf D010505|249100||mediterranean fever familial D010505|249100||paroxysmal peritonitides benign D010505|249100||paroxysmal peritonitis benign D010505|249100||paroxysmal polyserositides familial D010505|249100||paroxysmal polyserositis familial D010505|249100||periodic disease D010505|249100||periodic diseases D010505|249100||periodic disease wolff D010505|249100||periodic disease wolffs D010505|249100||periodic disease wolff apos s D010505|249100||periodic peritonitides D010505|249100||periodic peritonitis D010505|249100||peritonitides benign paroxysmal D010505|249100||peritonitides periodic D010505|249100||peritonitis benign paroxysmal D010505|249100||peritonitis periodic D010505|249100||polyserositides familial paroxysmal D010505|249100||polyserositides recurrent D010505|249100||polyserositis familial paroxysmal D010505|249100||polyserositis recurrent D010505|249100||recurrent polyserositides D010505|249100||recurrent polyserositis D010505|249100||wolff periodic disease D010505|249100||wolff apos s periodic disease D010505|249100||wolffs periodic disease C537910||bardet biedl syndrome 2 C537911||bardet biedl syndrome 3 C565164||epilepsy benign neonatal 1 C565164||convulsions benign familial neonatal 1 C537303|609227||griscelli syndrome type 3 C537303|609227||gs3 C537303|609227||hypomelanosis with no immunologic or neurologic manifestations C565165|613825||c9 deficiency C565165|613825||complement component 9 deficiency D011660||pulmonary heart disease D011660||cor pulmonale D011660||disease pulmonary heart D011660||diseases pulmonary heart D011660||heart disease pulmonary D011660||heart diseases pulmonary D011660||pulmonary heart diseases C565160||delayed cranial ossification due to cbfb haploinsufficiency C537912||bardet biedl syndrome 4 C565161||coracoclavicular joint anomalous D011662||pulmonary subvalvular stenosis D011662||conus obstructive subaortic D011662||infundibular stenoses pulmonary D011662||infundibular stenosis pulmonary D011662||obstructive subaortic conus D011662||pulmonary infundibular stenoses D011662||pulmonary infundibular stenosis D011662||pulmonary stenoses subvalvular D011662||pulmonary stenosis subvalvular D011662||pulmonary subvalvular stenoses D011662||stenoses pulmonary infundibular D011662||stenoses pulmonary subvalvular D011662||stenoses subvalvular pulmonary D011662||stenosis pulmonary infundibular D011662||stenosis pulmonary subvalvular D011662||stenosis subvalvular pulmonary D011662||subaortic conus obstructive D011662||subvalvular pulmonary stenoses D011662||subvalvular pulmonary stenosis D011662||subvalvular stenoses pulmonary D011662||subvalvular stenosis pulmonary C565126||darier disease segmental C566457||short stature and facioauriculothoracic malformations C567789||basal cell carcinoma nonsyndromic C565127||phenacetin o deethylase deficiency of C563999|600105||retinitis pigmentosa 12 C563999|600105||retinitis pigmentosa with or without paraarteriolar preservation of retinal pigment epithelium C563999|600105||rp12 C563999|600105||rp with or without pprpe C563999|600105||rp with or without preserved paraarteriole retinal pigment epithelium C565122||deafness mid tone neural 218400|C536570||craniometaphyseal dysplasia autosomal recessive type 218400|C536570||cmdr 218400|C536570||craniometaphyseal dysplasia autosomal recessive C565123||deafness conductive stapedial with ear malformation and facial palsy C565125||darier disease acral hemorrhagic type C567786||prostaglandin endoperoxide synthase 1 deficiency platelet C567786||pghs1 deficiency C567786||platelet cox1 deficiency C567786||platelet cyclooxygenase 1 deficiency D000987||antisocial personality disorder D000987||antisocial personalities D000987||antisocial personality D000987||antisocial personality disorders D000987||behavior dyssocial D000987||behaviors dyssocial D000987||disorder antisocial personality D000987||disorders antisocial personality D000987||dyssocial behavior D000987||dyssocial behaviors D000987||personalities antisocial D000987||personalities psychopathic D000987||personalities sociopathic D000987||personality antisocial D000987||personality disorder antisocial D000987||personality disorders antisocial D000987||personality psychopathic D000987||personality sociopathic D000987||psychopathic personalities D000987||psychopathic personality D000987||sociopathic personalities D000987||sociopathic personality C567861|612932||glycogen storage disease xiii C567861|612932||enolase 3 deficiency C567861|612932||enolase beta deficiency C567861|612932||gsd13 C567861|612932||gsd xiii D010309||parotitis D010309||parotiditides D010309||parotiditis D010309||parotitides 272750|D049290||tay sachs disease ab variant 272750|D049290||ab variant gangliosidosis gm2 272750|D049290||ab variant gm2 gangliosidoses 272750|D049290||ab variant gm2 gangliosidosis 272750|D049290||activator deficiencies gm2 272750|D049290||activator deficiencies hexosaminidase 272750|D049290||activator deficiency gm2 272750|D049290||activator deficiency gm2 gangliosidosis 272750|D049290||activator deficiency hexosaminidase 272750|D049290||activator deficient tay sachs disease 272750|D049290||activator deficient tay sachs diseases 272750|D049290||deficiencies gm2 activator 272750|D049290||deficiencies hexosaminidase activator 272750|D049290||deficiency disease gm2 protein activator 272750|D049290||deficiency gm2 activator 272750|D049290||deficiency hexosaminidase activator 272750|D049290||disease activator deficient tay sachs 272750|D049290||diseases activator deficient tay sachs 272750|D049290||gangliosidosis gm2 ab variant 272750|D049290||gangliosidosis gm2 type ab 272750|D049290||gm2 activator deficiencies 272750|D049290||gm2 activator deficiency 272750|D049290||gm2 activator deficiency disease 272750|D049290||gm2 gangliosidoses ab variant 272750|D049290||gm2 gangliosidosis ab variant 272750|D049290||gm2 gangliosidosis type ab 272750|D049290||gm2 protein activator deficiency disease 272750|D049290||hexosaminidase activator deficiencies 272750|D049290||hexosaminidase activator deficiency 272750|D049290||hexosaminidase activator protein deficiency disease 272750|D049290||tay sachs disease activator deficient 272750|D049290||tay sachs diseases activator deficient 272750|D049290||variant gm2 gangliosidoses ab 272750|D049290||variant gm2 gangliosidosis ab C567467|300719||deafness cataract retinitis pigmentosa and sperm abnormalities C537929||fibromuscular dysplasia of arteries D010301||parkinson disease postencephalitic D010301||economo type parkinsonism postencephalitic D010301||encephalitis lethargica type parkinsonism D010301||meningoencephalitic parkinsonism viral D010301||parkinson disease post encephalitic D010301||parkinsonian syndrome postencephalitis D010301||parkinsonism postencephalitic D010301||parkinsonism postencephalitic economo type D010301||parkinsonisms viral meningoencephalitic D010301||parkinsonism viral meningoencephalitic D010301||postencephalitic economo type parkinsonism D010301||postencephalitic parkinson disease D010301||post encephalitic parkinson disease D010301||postencephalitic parkinsonism D010301||postencephalitis parkinsonian syndrome D010301||viral meningoencephalitic parkinsonism D010301||von economo encephalitis type parkinsonism D010300||parkinson disease D010300||idiopathic parkinson disease D010300||idiopathic parkinson apos s disease D010300||lewy body parkinson disease D010300||lewy body parkinson apos s disease D010300||paralysis agitans D010300||parkinson disease idiopathic D010300||parkinsonism primary D010300||parkinson apos s disease D010300||parkinson apos s disease idiopathic D010300||parkinson apos s disease lewy body D010300||primary parkinsonism 309630||mf4 C537927||fibrocartilaginous embolism C537927||embolism fibrocartilaginous D010302||parkinson disease secondary D010302||atherosclerotic parkinsonism D010302||parkinson disease secondary vascular D010302||parkinson disease symptomatic D010302||parkinsonism atherosclerotic D010302||parkinsonism secondary D010302||parkinsonism symptomatic D010302||secondary parkinson disease D010302||secondary parkinsonism D010302||secondary vascular parkinson disease D010302||symptomatic parkinson disease D010302||symptomatic parkinsonism D010305||parotid diseases D010305||disease parotid D010305||diseases parotid D010305||parotid disease D010304||paronychia D010304||paronychias D010307||parotid neoplasms D010307||cancer of parotid D010307||cancer of the parotid D010307||cancer parotid D010307||cancers parotid D010307||neoplasm parotid D010307||neoplasms parotid D010307||parotid cancer D010307||parotid cancers D010307||parotid neoplasm C538285|115665||cataract congenital volkmann type C538285|115665||cataract 8 multiple types C538285|115665||ccv C538285|115665||ctrct8 C537921||fetal akinesia syndrome x linked C537921||brain malformation growth retardation hypokinesia and polyhydramnios C537921||holmes benacerraf syndrome C537921||x linked form of fetal akinesia syndrome C565130||cataract progressive polymorphic cortical C537922||fetal hydantoin syndrome C537922||dilantin embryopathy C537922||phenytoin embryopathy C565131|115700||cataract punctate progressive juvenile onset C565132||cataract variable zonular pulverulent C536858|275900||spastic paraplegia 20 autosomal recessive C536858|275900||cross mckusick syndrome C536858|275900||spastic paraparesis childhood onset with distal muscle wasting C536858|275900||spastic paraplegia autosomal recessive troyer type C536858|275900||spastic paraplegia with distal muscle wasting C536858|275900||spg20 C536858|275900||troyer syndrome C565137||cataract autosomal dominant nuclear 241850|C537901||bamforth syndrome 241850|C537901||bamforth lazarus syndrome 241850|C537901||bamforth lazarus syndrome hypothyroidism thyroidal with spiky hair and cleft palate included 241850|C537901||hypothyroidism athyroidal with spiky hair and cleft palate 241850|C537901||hypothyroidism cleft palate 241850|C537901||hypothyroidism thyroidal with spiky hair and cleft palate C565138||cryptophthalmos unilateral or bilateral isolated C565138||ankyloblepharon simple C565138||cryptophthalmos with microphthalmia and peters anomaly C565134||cataract posterior polar 2 C537940||chromosome 8 mosaic trisomy C537940||trisomy 8 mosaicism C537940||uniparental disomy of 8 C565135||cataract zonular central nuclear C565136|604219|C565815||cataract autosomal recessive congenital 1 C566483|610024||retinal cone dystrophy 3a C566483|610024||achm6 included C566483|610024||cone dystrophy with night blindness and supernormal rod responses pde6h related C566483|610024||cone dystrophy with night blindness and supernormal rod responses pde6h related achromatopsia 6 included C566483|610024||rcd3a D010319||parturient paresis D010319||animal milk fever D010319||fever animal milk D010319||milk fever animal D010319||pareses parturient D010319||paresis parturient D010319||parturient pareses D064128||nodding syndrome D064128||nodding syndromes D064128||syndrome nodding D064128||syndromes nodding D009325||nausea D064129||prostatic neoplasms castration resistant D064129||androgen independent prostatic cancer D064129||androgen independent prostatic cancers D064129||androgen independent prostatic neoplasm D064129||androgen independent prostatic neoplasms D064129||androgen insensitive prostatic cancer D064129||androgen insensitive prostatic cancers D064129||androgen insensitive prostatic neoplasm D064129||androgen insensitive prostatic neoplasms D064129||androgen resistant prostatic cancer D064129||androgen resistant prostatic cancers D064129||androgen resistant prostatic neoplasm D064129||androgen resistant prostatic neoplasms D064129||cancer androgen independent prostatic D064129||cancer androgen insensitive prostatic D064129||cancer androgen resistant prostatic D064129||cancer castration resistant prostatic D064129||cancers androgen independent prostatic D064129||cancers androgen insensitive prostatic D064129||cancers androgen resistant prostatic D064129||cancers castration resistant prostatic D064129||castration resistant prostatic cancer D064129||castration resistant prostatic cancers D064129||castration resistant prostatic neoplasm D064129||castration resistant prostatic neoplasms D064129||hormone refractory prostatic cancer D064129||hormone refractory prostatic neoplasms D064129||neoplasm androgen independent prostatic D064129||neoplasm androgen insensitive prostatic D064129||neoplasm androgen resistant prostatic D064129||neoplasm castration resistant prostatic D064129||neoplasms androgen independent prostatic D064129||neoplasms androgen insensitive prostatic D064129||neoplasms androgen resistant prostatic D064129||neoplasms castration resistant prostatic D064129||prostatic cancer androgen independent D064129||prostatic cancer androgen insensitive D064129||prostatic cancer androgen resistant D064129||prostatic cancer castration resistant D064129||prostatic cancer hormone refractory D064129||prostatic cancers androgen independent D064129||prostatic cancers androgen insensitive D064129||prostatic cancers androgen resistant D064129||prostatic cancers castration resistant D064129||prostatic neoplasm androgen independent D064129||prostatic neoplasm androgen insensitive D064129||prostatic neoplasm androgen resistant D064129||prostatic neoplasm castration resistant D064129||prostatic neoplasms androgen independent D064129||prostatic neoplasms androgen insensitive D064129||prostatic neoplasms androgen resistant D064129||prostatic neoplasms hormone refractory C536609||familial capillaro venous leptomeningeal angiomatosis C537938||fitzsimmons guilbert syndrome C537938||fitzsimmons syndrome C537938||spastic paraplegia associated with brachydactyly type e D011645||puerperal infection D011645||infection puerperal D011645||infections puerperal D011645||puerperal infections D009332||necatoriasis D009332||necatoriases C537939||boudhina yedes khiari syndrome C536608||fallot complex with severe mental and growth retardation C536608||bindewald ulmer muller syndrome D011644||puerperal disorders D011644||disorder puerperal D011644||disorders puerperal D011644||puerperal disorder C537218|268700||saccharopinuria C537218|268700|D020167|238700||alpha aminoadipic semialdehyde synthase deficiency C537218|268700||hyperlysinemia type ii C537218|268700||saccharopine dehydrogenase deficiency C554497||non aids related kaposi sarcoma D011649||pulmonary alveolar proteinosis D011649||alveolar proteinoses pulmonary D011649||alveolar proteinosis pulmonary D011649||proteinoses pulmonary alveolar D011649||proteinosis pulmonary alveolar D011649||pulmonary alveolar proteinoses D011648||pulmonary adenomatosis ovine D011648||adenomatoses ovine pulmonary D011648||adenomatoses pulmonary ovine D011648||adenomatosis ovine pulmonary D011648||adenomatosis pulmonary ovine D011648||carcinoma ovine pulmonary D011648||carcinomas ovine pulmonary D011648||jaagsiekte D011648||ovine adenomatoses pulmonary D011648||ovine adenomatosis pulmonary D011648||ovine pulmonary adenomatoses D011648||ovine pulmonary adenomatosis D011648||ovine pulmonary carcinoma D011648||ovine pulmonary carcinomas D011648||pulmonary adenomatoses ovine D011648||pulmonary carcinoma ovine D011648||pulmonary carcinomas ovine D011648||pulmonary ovine adenomatoses D011648||pulmonary ovine adenomatosis C554498||aids related kaposi sarcoma C565140||cryptotia familial D053489||mink viral enteritis D053489||enteritides mink viral D053489||enteritis infectious of mink D053489||enteritis mink viral D053489||mink viral enteritides D053489||viral enteritides mink D053489||viral enteritis mink C565141||cryoglobulinemia familial mixed C565141||meltzer syndrome C537933||fine lubinsky syndrome C537933||brachycephaly deafness cataract and mental retardation C537933||brachycephaly deafness cataract microstomia and mental retardation C565142||cryofibrinogenemia familial primary C537930||fibular aplasia ectrodactyly C537930||brachydactyly ectrodactyly with fibular aplasia or hypoplasia C565143||creutzfeldt jakob disease sporadic C537987|607734||charcot marie tooth disease type 1f C537987|607734||charcot marie tooth disease demyelinating type 1f C537987|607734||charcot marie tooth neuropathy type 1f C537987|607734||cmt1f C537987|607734||cmt 1f C537936||fitz hugh curtis syndrome C537936||gonococcal perihepatitis C537936||perihepatitis syndrome C537937||fitzsimmons walson mellor syndrome C536606||amelogenesis imperfecta hypomaturation type D010310||parovarian cyst D010310||cyst paratubal D010310||cyst parovarian D010310||cysts paratubal D010310||cysts parovarian D010310||hydatid cyst of morgagni D010310||hydatid of morgagni D010310||morgagni hydatid D010310||morgagni hydatid cyst D010310||morgagni hydatid cysts D010310||morgagni hydatids D010310||paratubal cyst D010310||paratubal cysts D010310||parovarian cysts C566314||adenosine deaminase elevated hemolytic anemia due to C566311||adenosine triphosphatase deficiency anemia due to C531690|D053579|263800||potassium and magnesium depletion C567644||chondrodysplasia megarbane dagher melki type C531691||platelet granule deficiency disorder D010409||penile diseases D010409||disease penile D010409||disease penis D010409||diseases penile D010409||diseases penis D010409||penile disease D010409||penis disease D010409||penis diseases C566319||acropectorovertebral dysplasia f form C566319|102510||acrpv 128235|C538001||dystonia 12 128235|C538001||dystonia parkinsonism rapid onset 128235|C538001||dyt12 128235|C538001||rapid onset dystonia parkinsonism 128235|C538001||rdp D009422||nervous system diseases D009422||disease nervous system D009422||diseases nervous system D009422||disorder nervous system D009422||disorder neurologic D009422||disorder neurological D009422||disorders nervous system D009422||disorders neurologic D009422||disorders neurological D009422||nervous system disease D009422||nervous system disorder D009422||nervous system disorders D009422||neurological disorder D009422||neurological disorders D009422||neurologic disorder D009422||neurologic disorders D009421||nervous system malformations D009421||abnormalities congenital nervous system D009421||abnormalities nervous system D009421||abnormality nervous system D009421||anomalies nervous system D009421||anomaly nervous system D009421||congenital abnormalities nervous system D009421||congenital anomalies nervous system D009421||congenital malformations nervous system D009421||cranioschises D009421||cranioschisis D009421||malformation nervous system D009421||malformations nervous system D009421||malformations nervous system congenital D009421||nervous system abnormalities D009421||nervous system abnormality D009421||nervous system anomalies D009421||nervous system anomaly D009421||nervous system congenital abnormalities D009421||nervous system congenital malformations D009421||nervous system malformation D009421||nervous system malformations congenital C581942||hemoglobin m disease C536657|142680||periodic fever familial autosomal dominant C536657|142680||autosomal dominant familial periodic fever C536657|142680||familial hibernian fever C536657|142680||fhf C536657|142680||fpf C536657|142680||hibernian familial fever C536657|142680||hibernian fever familial C536657|142680||tnf receptor associated periodic syndrome C536657|142680||traps C536657|142680||tumor necrosis factor receptor associated periodic syndrome 604588||never in mitosis gene a related kinase 1 604588||kiaa1901 604588||nek1 604588||nima related kinase 1 C531684||hereditary spinal ataxia C563716|609456||muscular dystrophy congenital merosin positive C531689||acute cerebral gaucher disease C566325||saethre chotzen syndrome with eyelid anomalies C567657||pitt hopkins like syndrome 1 C567657||pthsl1 C566327||vogt cephalodactyly C567658||polymicrogyria asymmetric C566321||pituitary adenoma familial isolated C566321||pituitary adenoma predisposition C565708|610189||senior loken syndrome 6 C565708|610189||slsn6 C566322||acroleukopathy symmetric C566323||acrokeratoderma hereditary papulotranslucent C536984|610156||morm syndrome C536984|610156||mental retardation truncal obesity retinal dystrophy and micropenis C565297|605750||exudative vitreoretinopathy 3 C565297|605750||evr3 D009423||nervous system neoplasms D009423||neoplasm nervous system D009423||neoplasms nervous system D009423||nervous system neoplasm D009423||nervous system tumor D009423||nervous system tumors D009423||tumor nervous system D009423||tumors nervous system D009423||tumors of the nervous system D010411||penile induration D010411||cavernitides fibrous D010411||cavernitis fibrous D010411||fibromatosis penile D010411||fibrous cavernitides D010411||fibrous cavernitis D010411||penile fibromatosis D010411||peyronie disease D010411||peyronie apos s disease D010411||peyronies disease D010411||plastic induration of the penis D008101||liver abscess amebic D008101||abscess amebic hepatic D008101||abscess amebic liver D008101||abscess amoebic hepatic D008101||abscess amoebic liver D008101||abscesses amebic liver D008101||abscesses amoebic hepatic D008101||abscesses amoebic liver D008101||abscess hepatic amebic D008101||abscess liver amebic D008101||amebiasis hepatic D008101||amebic liver abscess D008101||amebic liver abscesses D008101||amoebiasis hepatic D008101||amoebic hepatic abscess D008101||amoebic hepatic abscesses D008101||amoebic liver abscess D008101||amoebic liver abscesses D008101||entamoebiases hepatic D008101||entamoebiasis hepatic D008101||hepatic abscess amoebic D008101||hepatic abscesses amoebic D008101||hepatic amebiasis D008101||hepatic amoebiasis D008101||hepatic entamoebiases D008101||hepatic entamoebiasis D008101||liver abscess amoebic D008101||liver abscesses amebic D008101||liver abscesses amoebic D010412||penile neoplasms D010412||cancer of penis D010412||cancer of the penis D010412||cancer penile D010412||cancer penis D010412||cancers penile D010412||cancers penis D010412||neoplasm penile D010412||neoplasm penis D010412||neoplasms penile D010412||neoplasms penis D010412||penile cancer D010412||penile cancers D010412||penile neoplasm D010412||penis cancer D010412||penis cancers D010412||penis neoplasm D010412||penis neoplasms D008100||liver abscess D008100||abscesses hepatic D008100||abscesses liver D008100||abscess hepatic D008100||abscess liver D008100||hepatic abscess D008100||hepatic abscesses D008100||liver abscesses C565329|605428||deafness autosomal recessive 26 C565329|605428||dfnb26 D047708||myofibroma D047708||myofibromas C535309|210210||3 methylcrotonyl coa carboxylase 2 deficiency C535309|210210||3 alpha methylcrotonyl coa carboxylase 2 deficiency C535309|210210||3 alpha methylcrotonylglycinuria 2 C535309|210210||3 methylcrotonylglycinuria ii C535309|210210||mcc2 deficiency C535309|210210||methylcrotonoyl coa carboxylase 2 deficiency C535309|210210||methylcrotonylglycinuria type 2 C535309|210210||methylcrotonylglycinuria type ii D058497|219000||fraser syndrome D058497|219000||cryptophthalmos syndactyly syndrome D058497|219000||cryptophthalmos syndactyly syndromes D058497|219000||cryptophthalmos with other malformations D058497|219000||cryptophthalmos with other malformations cryptophthalmos syndactyly syndrome included D058497|219000||syndrome cryptophthalmos syndactyly D058497|219000||syndrome fraser C567661||progeria syndrome childhood onset C531698||intestinal helminthiasis C531699||hb c disease C567624||mitochondrial dna depletion syndrome encephalomyopathic form with methylmalonic aciduria autosomal recessive C567626||chromosome 3q29 duplication syndrome C567626||microduplication 3q29 syndrome C567620||vertigo benign recurrent 1 C567762|613090||bartter syndrome type 4b C567762|613090||bartter syndrome infantile with sensorineural deafness 123320||creatine phosphokinase elevated serum 123320||cpk elevated serum 123320||hyperckemia idiopathic C567627||musician apos s dystonia D009400||nephrosclerosis D009400||nephroscleroses D011711||pyoderma D011711||pyodermas C566304||alpha 2 macroglobulin deficiency C563676|610359||retinitis pigmentosa 33 C563676|610359||rp33 C566305||dysalbuminemic hyperthyroxinemia C566305||hyperthyroxinemia dysalbuminemic C566300||alpha fetoprotein deficiency C566301||alopecia familial focal C567633||emery dreifuss muscular dystrophy atypical autosomal recessive C567633||emery dreifuss muscular dystrophy 3 autosomal recessive C567632||growth hormone deficiency with pituitary anomalies C567632||pituitary hormone deficiency combined 5 D047728||myopia degenerative D047728||degenerative myopia D047728||degenerative myopias D047728||myopia pathological D047728||myopia progressive D047728||myopias degenerative D047728||myopias pathological D047728||myopias progressive D047728||pathological myopia D047728||pathological myopias D047728||progressive myopia D047728||progressive myopias D009408||nerve compression syndromes D009408||compression syndrome nerve D009408||compression syndromes nerve D009408||entrapment nerve D009408||entrapment neuropathies D009408||entrapments nerve D009408||external nerve compression syndromes D009408||internal nerve compression syndromes D009408||nerve compression syndrome D009408||nerve compression syndromes external D009408||nerve compression syndromes internal D009408||nerve entrapment D009408||nerve entrapments D009408||neuropathies entrapment D009408||neuropathy entrapment D009408||syndrome nerve compression D009408||syndromes nerve compression C566307||alacrima congenital C566307||alacrimia congenita D009404||nephrotic syndrome D009404||nephrotic syndromes D009404||syndrome nephrotic D009404||syndromes nephrotic C566308||hypoglossia hypodactylia C566308||aglossia adactylia C566308||oromandibular limb hypoplasia C566308||peromelia with micrognathism 135150|D058249||birt hogg dube syndrome 135150|D058249||birt hogg dub 233 syndrome 135150|D058249||fibrofolliculomas with trichodiscomas and acrochordons 135150|D058249||hornstein birt hogg dub 233 syndrome 135150|D058249||hornstein knickenberg syndrome C566309||adenine nucleotide translocator deficiency D009402||nephrosis lipoid D009402||change diseases minimal D009402||disease minimal change D009402||diseases minimal change D009402||glomerulonephritides minimal change D009402||glomerulonephritis minimal change D009402||glomerulopathies minimal change D009402||glomerulopathy minimal change D009402||idiopathic minimal change nephrotic syndrome D009402||lipoid nephroses D009402||lipoid nephrosis D009402||minimal change disease D009402||minimal change diseases D009402||minimal change glomerulonephritides D009402||minimal change glomerulonephritis D009402||minimal change glomerulopathy D009402||minimal change nephropathies D009402||minimal change nephropathy D009402||minimal change nephrotic syndrome D009402||nephropathies minimal change D009402||nephropathy minimal change D009402||nephroses lipoid D009402||nephrotic syndrome minimal change D009401||nephrosis D009401||nephroses C563959|600319||diabetes mellitus insulin dependent 4 C563959|600319||iddm4 C563959|600319||insulin dependent diabetes mellitus 4 D009410||nerve degeneration D009410||degeneration nerve D009410||degeneration neuron D009410||degenerations nerve D009410||degenerations neuron D009410||nerve degenerations D009410||neuron degeneration D009410||neuron degenerations 251880||mitochondrial dna depletion syndrome 3 hepatocerebral type 251880||mtdps3 D059707||aliivibrio infections D059707||aliivibrio infection D059707||infection aliivibrio D059707||infections aliivibrio C562440|241510||hypophosphatasia childhood C563895|608627||amyotrophic lateral sclerosis 8 C563895|608627||als8 C567601||gm2 gangliosidosis variant b1 611134|C567003||meckel syndrome type 4 611134|C567003||meckel gruber syndrome type 4 611134|C567003||meckel gruber syndrome type 4 meckel like cerebrorenodigital syndrome included 611134|C567003||mks4 C567603||refsum disease adult 2 C564508|300475||contiguous abcd1 dxs1375e deletion syndrome C564508|300475||cadds included C564508|300475||contiguous abcd1 dxs1375e deletion syndrome included C564508|300475||ddch C564508|300475||deafness dystonia and cerebral hypomyelination C535456|259680||chronic recurrent multifocal osteomyelitis C535456|259680||chronic multifocal osteomyelitis C535456|259680||cmo C535456|259680||crmo C535456|259680||multifocal osteomyelitis chronic C535456|259680||osteomyelitis chronic multifocal D060705||dyscalculia D060705||acalculia D060705||acalculias D060705||acalculia secondary D060705||acalculias secondary D060705||acquired dyscalculia D060705||acquired dyscalculias D060705||developmental dyscalculia D060705||developmental dyscalculias D060705||dyscalculia acquired D060705||dyscalculia developmental D060705||dyscalculia primary D060705||dyscalculias D060705||dyscalculias acquired D060705||dyscalculias developmental D060705||dyscalculias primary D060705||primary dyscalculia D060705||primary dyscalculias D060705||secondary acalculia D060705||secondary acalculias C567608||mitochondrial dna depletion syndrome hepatocerebral form autosomal recessive 601367|D002544||cerebral infarction 601367|D002544||anterior choroidal artery infarction 601367|D002544||cerebral infarction left hemisphere 601367|D002544||cerebral infarction right hemisphere 601367|D002544||cerebral infarctions 601367|D002544||cerebral left hemisphere infarction 601367|D002544||cerebral right hemisphere infarction 601367|D002544|606799|D020521||cerebrovascular accident 601367|D002544||infarction cerebral 601367|D002544||infarction cerebral left hemisphere 601367|D002544||infarction cerebral right hemisphere 601367|D002544||infarction left hemisphere cerebral 601367|D002544||infarction right hemisphere cerebral 601367|D002544||infarctions cerebral 601367|D002544||infarctions subcortical 601367|D002544||infarction subcortical 601367|D002544||left hemisphere cerebral infarction 601367|D002544||left hemisphere infarction cerebral 601367|D002544||posterior choroidal artery infarction 601367|D002544||right hemisphere cerebral infarction 601367|D002544||right hemisphere infarction cerebral 601367|D002544||stroke ischemic 601367|D002544||subcortical infarction 601367|D002544||subcortical infarctions C531647||caroli disease isolated C531647||congenital polycystic dilatation of intrahepatic bile ducts C531647||cystic dilatation of the intrahepatic biliary tree C531649||neutropenia and hyperlymphocytosis with large granular lymphocytes C531649|214500|D002609||chediak steinbrinck higashi syndrome 211800|C565891||calcification of joints and arteries 211800|C565891||acdc 211800|C565891||arterial calcification due to deficiency of cd73 211800|C565891||calja D015299||discitis D015299||discitides D015299||diskitides D015299||diskitis D015299||spondylodiscitides D015299||spondylodiscitis D015299||spondylodiskitides D015299||spondylodiskitis C531641||monday morning fever 604547||van der woude syndrome 1 modifier of 604547||vwsm C531642||familial vascular leukoencephalopathy C563669|610419||deafness autosomal recessive 68 C563669|610419||dfnb68 C567614||demyer sequence D011705||pyelonephritis xanthogranulomatous D011705||pyelonephritides xanthogranulomatous D011705||xanthogranulomatous pyelonephritides D011705||xanthogranulomatous pyelonephritis D047748||pituitary acth hypersecretion D047748||acth hypersecretion pituitary D047748||adrenocorticotropic hormone inappropriate secretion D047748||cushing disease D047748|D049913|219090||cushing disease pituitary D047748||cushing diseases pituitary D047748||cushing syndrome pituitary D047748||cushing syndrome pituitary dependant D047748||disease cushing D047748||hypercortisolism disorder pituitary dependant D047748||hypercortisolism disorders pituitary dependant D047748||hypercortisolism pituitary dependant D047748||hypercortisolisms pituitary dependant D047748||hypersecretion pituitary acth D047748||inappropriate acth secretion syndrome D047748||inappropriate adrenocorticotropic hormone secretion D047748||pituitary cushing disease D047748||pituitary cushing diseases D047748||pituitary cushing syndrome D047748||pituitary dependant cushing syndrome D047748||pituitary dependant hypercortisolism D047748||pituitary dependant hypercortisolism disorder D047748||pituitary dependant hypercortisolism disorders D047748||pituitary dependant hypercortisolisms D011707||pyloric stenosis D011707||stenosis pyloric D011702||pyelitis D011704||pyelonephritis D011704||necrotizing pyelonephritis D011704||pyelonephritides D011704||pyelonephritis acute necrotizing C531652|D015794||tcd C564703|606482||charcot marie tooth disease dominant intermediate b C564703|606482||charcot marie tooth disease axonal autosomal dominant type 2m C564703|606482||charcot marie tooth disease axonal autosomal dominant type 2m included C564703|606482||charcot marie tooth disease axonal type 2m C564703|606482||charcot marie tooth disease dominant intermediate b with neutropenia C564703|606482||charcot marie tooth disease dominant intermediate b with neutropenia included C564703|606482||charcot marie tooth neuropathy axonal type 2m C564703|606482||charcot marie tooth neuropathy axonal type 2m included C564703|606482||charcot marie tooth neuropathy dominant intermediate b C564703|606482||charcot marie tooth neuropathy dominant intermediate b with neutropenia included C564703|606482||cmt2m C564703|606482||cmt2m included C564703|606482||cmtdi1 C564703|606482||cmtdi1 charcot marie tooth disease axonal type 2m included C564703|606482||cmtdib C564703|606482||di cmtb C531654||congenital chylous ascites 242600|C536285||iminoglycinuria C537005|609536||complement component 5 deficiency C537005|609536||c5d C537005|609536||c5 deficiency C537005|609536||dysfunction of the fifth component of complement c5 C537005|609536||leiner disease 135300||fibromatosis gingival 1 135300|C562884||fibromatosis gingival hereditary 135300||ggf1 135300||gingf 135300|C562884||gingf1 135300||hgf D060725||uterine retroversion D060725||gravid uterus retroverted D060725||incarcerated retroverted uterus D060725||retroflexed uterus D060725||retroflexions uterine D060725||retroflexion uterine D060725||retroversions uterine D060725||retroversion uterine D060725||retroverted gravid uterus D060725||retroverted uterus D060725||retroverted uterus incarcerated D060725||tipped uterus D060725||uterine retroflexion D060725||uterine retroflexions D060725||uterine retroversions D060725||uterus incarcerated retroverted D060725||uterus retroflexed D060725||uterus retroverted D060725||uterus retroverted gravid D060725||uterus tipped C537377|265000||multiple pterygium syndrome C537377|265000||escobar syndrome C537377|265000||evmps C537377|265000||familial pterygium syndrome C537377|265000||lethal multiple pterygium syndrome C537377|265000||multiple pterygium syndrome escobar variant C537377|265000||multiple pterygium syndrome nonlethal type C537377|265000||pterygium colli syndrome C537377|265000||pterygium multiple syndrome lethal type C537377|265000||pterygium syndrome C537377|265000||pterygium syndrome multiple C537377|265000||pterygium universale C538262|255960||atrial myxoma familial C538262|255960||intracardiac myxoma C538262|255960||myxoma intracardiac C531660||generalized elastolysis C531662||submacular cysticercosis D015275||tumor lysis syndrome D015275||syndromes tumor lysis D015275||syndromes tumour lysis D015275||syndrome tumor lysis D015275||syndrome tumour lysis D015275||tumor lysis syndromes D015275||tumour lysis syndrome D015275||tumour lysis syndromes 121300|D046349||coproporphyria hereditary 121300|D046349||coproporphyrinogen oxidase deficiency 121300|D046349||cpo deficiency 121300|D046349||cpox deficiency 121300|D046349||cpx deficiency harderoporphyria included 121300|D046349||deficiency coproporphyrinogen oxidase 121300|D046349||hcp 121300|D046349||hereditary coproporphyria C531664||cystinuria type 1 181350|D020389||muscular dystrophy emery dreifuss 181350|D020389||autosomal dominant emery dreifuss muscular dystrophy 181350|D020389||autosomal recessive emery dreifuss muscular dystrophy 181350|D020389||benign scapuloperoneal muscular dystrophy with early contractures 181350|D020389||edmd1 181350|D020389||edmd2 181350|D020389||edmd3 included 181350|D020389||edmd4 181350|D020389||edmd5 181350|D020389||emd1 181350|D020389||emd2 181350|D020389||emery dreifuss muscular dystrophy 181350|D020389||emery dreifuss muscular dystrophy 1 181350|D020389||emery dreifuss muscular dystrophy 1 x linked 181350|D020389||emery dreifuss muscular dystrophy 2 181350|D020389||emery dreifuss muscular dystrophy 2 autosomal dominant 181350|D020389||emery dreifuss muscular dystrophy 3 autosomal recessive included 181350|D020389|C567831||emery dreifuss muscular dystrophy 4 autosomal dominant 181350|D020389||emery dreifuss muscular dystrophy 4 with variable features 181350|D020389||emery dreifuss muscular dystrophy 5 autosomal dominant 181350|D020389||emery dreifuss muscular dystrophy autosomal dominant 181350|D020389||emery dreifuss muscular dystrophy autosomal recessive 181350|D020389||emery dreifuss muscular dystrophy x linked 181350|D020389||emery dreifuss syndrome 181350|D020389||emery dreifuss type muscular dystrophy 181350|D020389||hauptmann thannhauser muscular dystrophy 181350|D020389||hauptmann thannhauser muscular dystrophy emery dreifuss muscular dystrophy atypical autosomal recessive included 181350|D020389||humeroperoneal neuromuscular disease formerly 181350|D020389||muscular dystrophy emery dreifuss autosomal dominant 181350|D020389||muscular dystrophy emery dreifuss autosomal recessive 181350|D020389||muscular dystrophy emery dreifuss type 181350|D020389||muscular dystrophy emery dreifuss x linked 181350|D020389||muscular dystrophy scapuloperoneal 181350|D020389|C538478||muscular dystrophy tardive dreifuss emery type with contractures 181350|D020389||muscular dystrophy with early contractures and cardiomyopathy autosomal dominant 181350|D020389||myh7 related scapuloperoneal myopathy 181350|D020389||myopathy myh7 related scapuloperoneal 181350|D020389||scapuloilioperoneal atrophy with cardiopathy 181350|D020389|181430||scapuloperoneal muscular dystrophy 181350|D020389|181430||scapuloperoneal myopathy myh7 related 181350|D020389||scapuloperoneal syndrome x linked 181350|D020389||scapuloperoneal syndrome x linked formerly 181350|D020389||x linked emery dreifuss muscular dystrophy 181350|D020389||x linked scapuloperoneal syndrome C531665|125490|D003811||opalescent dentin C531665|125490|D003811||capdepont teeth C531665|125490|D003811||dentinogenesis imperfecta 1 C531665|125490|D003811||dentinogenesis imperfecta shields type ii D058405||desmoplastic small round cell tumor D058405||desmoplastic small cell tumor D058405||desmoplastic small cell tumors D058405||small cell tumor desmoplastic D058405||small cell tumors desmoplastic D058405||tumor desmoplastic small cell D058405||tumors desmoplastic small cell C531667||5 alpha fluorouracil toxicity C537743|258100||oguchi disease C537743|258100||csnbo1 C537743|258100||csnbo2 C537743|258100||night blindness congenital stationary oguchi type 1 C537743|258100||night blindness congenital stationary oguchi type 2 C537743|258100||oguchi disease 1 C537743|258100||oguchi disease 2 C537743|258100||stationary night blindness oguchi type D006111|275000||graves disease D006111|275000||basedow disease D006111|275000||basedow apos s disease D006111|275000||basedows disease D006111|275000||disease basedow D006111|275000||disease basedow apos s D006111|275000||disease graves D006111|275000||disease graves apos D006111|275000||exophthalmic goiter D006111|275000||exophthalmic goiters D006111|275000||goiter exophthalmic D006111|275000||goiters exophthalmic D006111|275000||graves apos disease D006111|275000||graves disease susceptibility to 2 D006111|275000||grd D006111|275000||grd1 included D006111|275000||grd2 D006111|275000||hyperthyroidism autoimmune D006111|275000||hyperthyroidism autoimmune graves disease susceptibility to 1 included C536655|261650||phosphoenolpyruvate carboxykinase 2 deficiency C536655|261650||pck2 deficiency C536655|261650||pepck2 deficiency C536655|261650|C564890||phosphoenolpyruvate carboxykinase deficiency mitochondrial C563391|601086||laterality defects autosomal dominant D060737||reproductive tract infections D060737||genital tract infection D060737||genital tract infections D060737||infection genital tract D060737||infection reproductive tract D060737||infections genital tract D060737||infections reproductive tract D060737||reproductive tract infection C567192|612718||arginine glycine amidinotransferase deficiency C567192|612718||agat deficiency C567192|612718||arginine glycine amidinotransferase deficiency agat deficiency C567192|612718||ccds3 C567192|612718||cerebral creatine deficiency syndrome 3 C567192|612718||creatine deficiency syndrome due to agat deficiency C567192|612718||gatm deficiency C567192|612718||l arginine glycine aminidotransferase deficiency C563992|600132||retinitis pigmentosa 14 C563992|600132||retinitis pigmentosa juvenile tulp1 related C563992|600132||rp14 C531673||familial ependymoma C531673||adult intracranial ependymoma C531673||childhood ependymoma C531673||ependymoma familial C567616|225300||split hand foot malformation 6 C567616|225300||ectrodactyly autosomal recessive C567616|225300||shfm6 D029241|165500||optic atrophy autosomal dominant D029241|165500||atrophies juvenile optic D029241|165500||atrophies kjer type optic D029241|165500||atrophy juvenile optic D029241|165500||atrophy kjer apos s optic D029241|165500||atrophy kjer type optic D029241|165500||autosomal dominant optic atrophy D029241|165500||autosomal dominant optic atrophy kjer type D029241|165500||dominant optic atrophies D029241|165500||dominant optic atrophy D029241|165500||juvenile optic atrophies D029241|165500||juvenile optic atrophy D029241|165500||kjer optic atrophy D029241|165500||kjer apos s optic atrophy D029241|165500||kjers optic atrophy D029241|165500||kjer type optic atrophies D029241|165500||kjer type optic atrophy D029241|165500||oak D029241|165500||opa1 D029241|165500||optic atrophies dominant D029241|165500||optic atrophies juvenile D029241|165500||optic atrophies kjer type D029241|165500||optic atrophy 1 D029241|165500||optic atrophy 1s D029241|165500||optic atrophy dominant D029241|165500||optic atrophy hereditary autosomal dominant D029241|165500||optic atrophy juvenile D029241|165500||optic atrophy kjer apos s D029241|165500||optic atrophy kjer type D029241|165500||optic atrophy type 1 C567471|300712||craniofacioskeletal syndrome C562879|104500||amelogenesis imperfecta type ib C562879|104500||ai1b C562879|104500||aih2 C562879|104500||amelogenesis imperfecta hypoplastic local autosomal dominant C562879|104500||enamel hypoplasia hereditary localized C565188|610743||spinocerebellar ataxia autosomal recessive 8 C565188|610743||ataxia recessive of beauce C565188|610743||cerebellar ataxia autosomal recessive type 1 C565188|610743||scar8 D046449||hernia abdominal D046449||abdominal hernia D046449||abdominal hernias D046449||hernias abdominal C531602||anders apos syndrome C531602||dercum vitaut syndrome C531604||primary visual agnosia C531604||monomodal visual amnesia C531604||visual amnesia C531607||alexanders leukodystrophy C531609||diffuse alopecia C531609||alopecia celsi C531609||cazenave apos s vitiligo C531609||celsus apos vitiligo C531609||jonston apos s alopecia C531609||marginal alopecia C531609||patchy alopecia D058429||gnathostomiasis D058429||gnathostoma infection D058429||gnathostoma infections D058429||gnathostomiases D058429||infection gnathostoma D058429||infections gnathostoma D058426||neointima D058426||formation neointima D058426||neointima formation D058426||neointimas D016585||vaginosis bacterial D016585||bacterial vaginitides D016585||bacterial vaginitis D016585||bacterial vaginoses D016585||bacterial vaginosis D016585||nonspecific vaginitis D016585||vaginitides bacterial D016585||vaginitis bacterial D016585||vaginitis nonspecific D016585||vaginoses bacterial D016586||granular cell tumor D016586||cell myoblastoma granular D016586||cell myoblastomas granular D016586||cell tumor granular D016586||cell tumors granular D016586||granular cell myoblastoma D016586||granular cell myoblastomas D016586||granular cell tumors D016586||myoblastoma granular cell D016586||myoblastomas granular cell D016586||tumor granular cell D016586||tumors granular cell C531600||growth hormone excess C531601||tonic sluggishly reacting pupil and hypoactive or absent tendon reflexes D015270||mycobacterium avium intracellulare infection D015270||infection mycobacterium avium intracellulare D015270||infection mycobacterium intracellulare D015270||infections mycobacterium avium intracellulare D015270||infections mycobacterium intracellulare D015270||mycobacterium avium intracellulare infections D015270||mycobacterium intracellulare infection D015270||mycobacterium intracellulare infections C563728|609376||cataract congenital nuclear autosomal recessive 1 C563728|609376||cataract 35 C563728|609376||catcn1 C563728|609376||ctrct35 D016114|308100||ichthyosis x linked D016114|308100||deficiencies steroid sulfatase D016114|308100||deficiency steroid sulfatase D016114|308100||ichthyoses sex linked D016114|308100||ichthyoses x linked D016114|308100||ichthyosis sex linked D016114|308100||placental steroid sulfatase deficiency D016114|308100||steroid sulfatase deficiencies D016114|308100||steroid sulfatase deficiency D016114|308100||steroid sulfatase deficiency disease D016114|308100||steroid sulfatase deficiency disease ssdd ichthyosis x linked complicated included D016114|308100||sts deficiency D016114|308100||sulfatase deficiencies steroid D016114|308100||sulfatase deficiency steroid D016114|308100||xli D003289||convalescence D003289||convalescences C565246|606242||mental retardation microcephaly growth retardation joint contractures and facial dysmorphism C565246|606242||kondoh syndrome D003286||contracture D003286||contractures D003288||contusions D003288||bruise D003288||bruises D003288||contusion C531613||amoebiasis due to entamoeba histolytica C537699|256100||nephronophthisis familial juvenile C537699|256100||juvenile nephronophthisis C537699|256100||nephronophthisis 1 C537699|256100||nph1 C537699|256100||nphp1 C537699|256100||type 1 nephronophthisis C531614||amniotic band sequence C531614||amniotic bands sequence C531614||congenital constricting bands C531614||constricting bands congenital C531614||familial amniotic bands C531614||streeter anomaly D003294||seizures febrile D003294||convulsion febrile D003294||convulsion fever D003294||convulsion pyrexial D003294||convulsions febrile D003294||convulsions fever D003294||convulsions pyrexial D003294||febrile convulsion D003294||febrile convulsions D003294||febrile convulsion seizure D003294||febrile convulsion seizures D003294||febrile fit D003294||febrile fits D003294||febrile seizure D003294||febrile seizures D003294||fever convulsion D003294||fever convulsions D003294||fever seizure D003294||fever seizures D003294||fit febrile D003294||fits febrile D003294||pyrexial convulsion D003294||pyrexial convulsions D003294||pyrexial seizure D003294||pyrexial seizures D003294||seizure febrile D003294||seizure febrile complex D003294||seizure febrile convulsion D003294||seizure febrile simple D003294||seizure fever D003294||seizure pyrexial D003294||seizures febrile convulsion D003294||seizures fever D003294||seizures pyrexial C531615||amyloid neuropathies primary nonfamilial D060751||bone retroversion D060751||bone retrotorsion D060751||bone retrotorsions D060751||bone retroversions D060751||retrotorsion bone D060751||retrotorsions bone D060751||retroversion bone D060751||retroversions bone C531616||primary amyloidosis C531616||amyloidosis primary C531616||amyloid primary D060750||bone anteversion D060750||antetorsion bone D060750||antetorsions bone D060750||anteversion bone D060750||anteversions bone D060750||bone antetorsion D060750||bone antetorsions D060750||bone anteversions C566907|611615||cardiomyopathy dilated 1x C566907|611615||cardiomyopathy dilated with mild or no proximal muscle weakness C566907|611615||cmd1x 604219|C565815||cataract autosomal dominant 604219|C565815||cataract 9 multiple types 604219|C565815||cataract 9 multiple types with or without microcornea 604219|C565815||catc1 604219|C565815||ctrct9 C531619||happy puppet syndrome formerly D003291||conversion disorder D003291||astasia abasia D003291||conversion disorders D003291||conversion hysteria D003291||conversion hysterias D003291||conversion reaction D003291||conversion reactions D003291||globus hystericus D003291||hysteria conversion D003291||hysterias conversion D003291||reaction conversion D003291||reactions conversion 609015|C566945||trifunctional protein deficiency with myopathy and neuropathy 609015|C566945||3 hydroxyacyl coa dehydrogenase long chain deficiency 609015|C566945|609016||lchad deficiency 609015|C566945|609016||long chain 3 hydroxyacyl coa dehydrogenase deficiency 609015|C566945||long chain 3 hydroxy acyl coa dehydrogenase deficiency 609015|C566945||long chain 3 hydroxyacyl coenzyme a dehydrogenase deficiency 609015|C566945||long chain 3 oh acyl coa dehydrogenase deficiency 609015|C566945||mitochondrial trifunctional protein deficiency 609015|C566945||mitochondrial trifunctional protein deficiency trifunctional protein deficiency with myopathy and neuropathy included 609015|C566945||tfp deficiency 609015|C566945||trifunctional protein deficiency 609015|C566945||trifunctional protein deficiency type 1 609015|C566945||trifunctional protein deficiency type 2 D015267||churg strauss syndrome D015267||allergic angiitides D015267||allergic angiitides granulomatous D015267||allergic angiitis D015267||allergic angiitis and granulomatosis D015267||allergic angiitis granulomatous D015267||allergic granulomatoses D015267||allergic granulomatosis D015267||allergic granulomatous and angiitis D015267||allergic granulomatous angiitides D015267||allergic granulomatous angiitis D015267||angiitides allergic D015267||angiitides allergic granulomatous D015267||angiitides granulomatous allergic D015267||angiitis allergic D015267||angiitis allergic granulomatous D015267||angiitis granulomatous allergic D015267||churg strauss vasculitis D015267||eosinophilic granulomatous vasculitides D015267||eosinophilic granulomatous vasculitis D015267||granulomatoses allergic D015267||granulomatosis allergic D015267||granulomatous allergic angiitides D015267||granulomatous allergic angiitis D015267||granulomatous angiitides allergic D015267||granulomatous angiitis allergic D015267||granulomatous vasculitides eosinophilic D015267||granulomatous vasculitis eosinophilic D015267||syndrome churg strauss D015267||vasculitides eosinophilic granulomatous D015267||vasculitis churg strauss D015267||vasculitis eosinophilic granulomatous D015266||carcinoma merkel cell D015266||cancer merkel cell D015266||cell cancer merkel D015266||merkel cell cancer D015266||merkel cell carcinoma D015266||merkel cell tumor D015266||merkle tumors D015266||tumor merkel cell D015266||tumors merkle D058437||hypertensive retinopathy D058437||hypertensive retinopathies D058437||retinopathies hypertensive D058437||retinopathy hypertensive C531610||deficiency of aat D057108||corneal wavefront aberration D057108||aberration corneal wavefront D057108||aberrations corneal wavefront D057108||corneal wavefront aberrations D057108||wavefront aberration corneal D057108||wavefront aberrations corneal C536545|190300||tremor hereditary essential 1 C536545|190300||etm1 C536545|190300||fet1 C536545|190300||tremor familial essential 1 C567514|611819||long qt syndrome 10 C567514|611819||lqt10 D057112||corneal perforation D057112||corneal perforations D057112||perforation corneal D057112||perforations corneal C531624||familial spinal arachnoiditis C531624||spinal arachnoiditis C531624||spinal tuberculous arachnoiditis C531625||chiari malformation type 2 C531625||chiari malformation type ii C531629||human balantidiasis C531629||balantidiosis C531629||balantidium coli infection C531629||b coli infection C531629||large intestinal infection with balantidium coli D058442||capsule opacification D058442||capsule opacifications D058442||cataract secondary D058442||cataracts secondary D058442||opacification capsule D058442||opacifications capsule D058442||secondary cataract D058442||secondary cataracts C567709|613204||muscular dystrophy congenital due to integrin alpha 7 deficiency C567709|613204||myopathy congenital due to integrin alpha 7 deficiency C535979|201910||congenital adrenal hyperplasia due to 21 hydroxylase deficiency C535979|201910||21 alpha hydroxylase deficiency C535979|201910||21 hydroxylase deficiency C535979|201910||adrenal hyperplasia congenital due to 21 hydroxylase deficiency C535979|201910||adrenal hyperplasia iii C535979|201910||congenital adrenal hyperplasia 1 C535979|201910||congenital adrenal hyperplasia 1 cah1 hyperandrogenism nonclassic type due to 21 hydroxylase deficiency included C535979|201910||cyp21 deficiency D015231||sexually transmitted diseases bacterial D015231||bacterial sexually transmitted disease D015231||bacterial sexually transmitted diseases D015231||bacterial venereal disease D015231||bacterial venereal diseases D015231||disease bacterial venereal D015231||diseases bacterial venereal D015231||sexually transmitted disease bacterial D015231||venereal disease bacterial D015231||venereal diseases bacterial D016569||blepharophimosis D016569||blepharophimoses D058447||eye pain D058447||eye pains D058447||pain eye D058447||pains eye C531621||cutaneous anthrax C531621||anthrax skin type C531621||skin anthrax C562603|612119||trehalase deficiency C562603|612119||trehalose intolerance D016582||leukemia feline D016582||feline leukemia D016582||feline leukemias D016582||leukemias feline D016583||enzootic bovine leukosis D016583||bovine leukemia D016583||bovine leukemias D016583||bovine leukoses D016583||bovine leukoses enzootic D016583||bovine leukosis D016583||bovine leukosis enzootic D016583||bovine lymphoma D016583||bovine lymphomas D016583||bovine lymphosarcoma D016583||bovine lymphosarcomas D016583||enzootic bovine leukoses D016583||leukemia bovine D016583||leukemias bovine D016583||leukoses bovine D016583||leukoses enzootic bovine D016583||leukosis bovine D016583||leukosis enzootic bovine D016583||lymphoma bovine D016583||lymphomas bovine D016583||lymphosarcoma bovine D016583||lymphosarcomas bovine 105500||als pdc C536404|600995||nephrotic syndrome idiopathic steroid resistant C536404|600995||nephrotic syndrome steroid resistant autosomal recessive C536404|600995|C535761|256300||nephrotic syndrome type 2 C536404|600995||nphs2 C536404|600995||srn1 D059786||abnormal karyotype D059786||abnormal karyotypes D059786||karyotype abnormal D059786||karyotypes abnormal C564888|261740||glycogen storage disease of heart lethal congenital C564888|261740||glycogen storage disease of heart C564888|261740||phosphorylase kinase deficiency of heart C536038|201450||medium chain acyl coa dehydrogenase deficiency C536038|201450||acadmd C536038|201450||acadm deficiency C536038|201450||acyl coa dehydrogenase medium chain deficiency of C536038|201450||carnitine deficiency secondary to medium chain acyl coa dehydrogenase deficiency C536038|201450||mcad deficiency C536038|201450||mcadh deficiency C536038|201450||medium chain acyl coenzyme a dehydrogenase deficiency D058457||trichiasis D058457||trichiases D059787||acute pain D059787||acute pains D059787||pain acute D059787||pains acute 193100|C562791||hypophosphatemic rickets autosomal dominant 193100|C562791||adhr 193100|C562791||hypophosphatemia autosomal dominant 193100|C562791||vitamin d resistant rickets autosomal dominant C531638||sudden unexpected nocturnal death syndrome C531639||stomatodynia C537727|265300||lymphangiectasia pulmonary congenital C537727|265300||cpl C537727|265300||lymphangiomatosis pulmonary C537727|265300||pulmonary cystic lymphangiectasis D016574||seasonal affective disorder D016574||affective disorder seasonal D016574||affective disorders seasonal D016574||disorder seasonal affective D016574||disorder seasonal mood D016574||disorders seasonal affective D016574||disorders seasonal mood D016574||mood disorder seasonal D016574||mood disorders seasonal D016574||seasonal affective disorders D016574||seasonal mood disorder D016574||seasonal mood disorders C564501|300505||mental retardation x linked 84 C564501|300505||mrx84 D057129||iridocorneal endothelial syndrome D057129||chandler apos s syndrome D057129||chandlers syndrome D057129||chandler syndrome D057129||cornea dystrophy endothelial D057129||corneas dystrophy endothelial D057129||dystrophy endothelial cornea D057129||dystrophy endothelial corneas D057129||endothelial cornea dystrophy D057129||endothelial corneas dystrophy D057129||endothelial syndrome iridocorneal D057129||endothelial syndromes iridocorneal D057129||iridocorneal endothelial syndromes D057129||iris atrophy with corneal edema and glaucoma 300068|D013734||androgen insensitivity syndrome 300068|D013734|181800||ais 300068|D013734||androgen insensitivities partial 300068|D013734||androgen insensitivity partial 300068|D013734||androgen insensitivity partial with or without breast cancer 300068|D013734||androgen insensitivity syndrome complete 300068|D013734||androgen insensitivity syndrome partial 300068|D013734||androgen insensitivity syndromes 300068|D013734||androgen insensitivity syndromes complete 300068|D013734||androgen insensitivity syndromes partial 300068|D013734||androgen receptor deficiencies 300068|D013734||androgen receptor deficiency 300068|D013734||androgen resistance syndrome 300068|D013734||androgen resistance syndromes 300068|D013734||ar deficiencies 300068|D013734||ar deficiency 300068|D013734||complete androgen insensitivity syndrome 300068|D013734||complete androgen insensitivity syndromes 300068|D013734||deficiencies androgen receptor 300068|D013734||deficiencies ar 300068|D013734||deficiencies dhtr 300068|D013734||deficiencies dihydrotestosterone receptor 300068|D013734||deficiency androgen receptor 300068|D013734||deficiency ar 300068|D013734||deficiency dhtr 300068|D013734||deficiency dihydrotestosterone receptor 300068|D013734||dhtr deficiencies 300068|D013734||dhtr deficiency 300068|D013734||dihydrotestosterone receptor deficiencies 300068|D013734||dihydrotestosterone receptor deficiency 300068|D013734||feminizations testicular 300068|D013734||feminization syndromes testicular 300068|D013734||feminization syndrome testicular 300068|D013734||feminization testicular 300068|D013734||insensitivities partial androgen 300068|D013734||insensitivity partial androgen 300068|D013734||insensitivity syndrome androgen 300068|D013734||insensitivity syndromes androgen 300068|D013734||male pseudohermaphroditism due to androgen insensitivity 300068|D013734||pais 300068|D013734||partial androgen insensitivities 300068|D013734||partial androgen insensitivity 300068|D013734||partial androgen insensitivity syndrome 300068|D013734||partial androgen insensitivity syndromes 300068|D013734||receptor deficiencies androgen 300068|D013734||receptor deficiencies dihydrotestosterone 300068|D013734||receptor deficiency androgen 300068|D013734||receptor deficiency dihydrotestosterone 300068|D013734||reifenstein apos s syndrome 300068|D013734||reifensteins syndrome 300068|D013734||reifenstein syndrome 300068|D013734||resistance syndrome androgen 300068|D013734||resistance syndromes androgen 300068|D013734||testicular feminization 300068|D013734||testicular feminizations 300068|D013734||testicular feminization syndrome 300068|D013734||testicular feminization syndromes 300068|D013734||tfm D016575||hidradenitis D016575||eccrine hidradenitides neutrophilic D016575||eccrine hidradenitis neutrophilic D016575||hidradenitides D016575||hidradenitides neutrophilic eccrine D016575||hidradenitis neutrophilic eccrine D016575||hidrosadenitides D016575||hidrosadenitis D016575||hydradenitides D016575||hydradenitis D016575||neutrophilic eccrine hidradenitides D016575||neutrophilic eccrine hidradenitis C531633||biotin deficiency 105550||frontotemporal dementia and or amyotrophic lateral sclerosis 105550|C566288||alsftd 105550|C566288||amyotrophic lateral sclerosis and or frontotemporal dementia 105550||frontotemporal dementia and or motor neuron disease 105550|C566288||ftdals 105550|C566288||ftdmnd D017880||limb deformities congenital D017880||congenital limb deformities D017880||congenital limb deformity D017880||deformities congenital limb D017880||deformity congenital limb D017880||limb deformity congenital C565198|610687||nemaline myopathy 7 C565198|610687||nem7 609055|C537953||ceroid lipofuscinosis neuronal 9 609055|C537953||cln9 C536080|300438||hydroxyacyl coa dehydrogenase type 2 deficiency C536080|300438||17beta hydroxysteroid dehydrogenase type 10 deficiency C536080|300438||17 beta hydroxysteroid dehydrogenase x deficiency C536080|300438||2 methyl 3 hydroxybutyric aciduria C536080|300438||2 methyl 3 hydroxybutyryl coa dehydrogenase deficiency C536080|300438||3 hydroxy 2 methylbutyryl coa dehydrogenase deficiency C536080|300438||3 hydroxyacyl coa dehydrogenase ii deficiency C536080|300438||3 hydroxyacyl coa dehydrogenase type 2 deficiency C536080|300438||hsd10 deficiency C536080|300438||hsd17b10 deficiency C536080|300438||hydroxyacyl coa dehydrogenase ii deficiency C536080|300438||mhbd deficiency D003234||conjunctivitis bacterial D003234||bacterial conjunctivitides D003234||bacterial conjunctivitis D003234||conjunctivitides bacterial D003234||conjunctivitides mucopurulent D003234||conjunctivitides purulent D003234||conjunctivitis mucopurulent D003234||conjunctivitis purulent D003234||mucopurulent conjunctivitides D003234||mucopurulent conjunctivitis D003234||purulent conjunctivitides D003234||purulent conjunctivitis D005896||glanders D003235||conjunctivitis inclusion D003235||blennorrhea inclusion D003235||blennorrheas inclusion D003235||conjunctivitides inclusion D003235||inclusion blennorrhea D003235||inclusion blennorrheas D003235||inclusion conjunctivitides D003235||inclusion conjunctivitis D003236||conjunctivitis viral D003236||conjunctivitides viral D003236||viral conjunctivitides D003236||viral conjunctivitis C562798||transcobalamin i deficiency C562798||cobalamin pseudodeficiency due to transcobalamin deficiency C562798||cobalamin r binder protein deficiency C562798||transcobalamin i deficiency with lactoferrin deficiency 178000|C566740||pterygium of conjunctiva and cornea D003230||conjunctival neoplasms D003230||conjunctival neoplasm D003230||neoplasm conjunctival D003230||neoplasms conjunctival D005892||gingivitis necrotizing ulcerative D005892||acute membranous gingivitides D005892||acute membranous gingivitis D005892||acute necrotizing ulcerative gingivitis D005892||anginas vincent D005892||angina vincent D005892||fusospirillary gingivitides D005892||fusospirillary gingivitis D005892||fusospirilloses D005892||fusospirillosis D005892||gingivitides acute membranous D005892||gingivitides fusospirillary D005892||gingivitides phagedenic D005892||gingivitis acute membranous D005892||gingivitis fusospirillary D005892||gingivitis phagedenic D005892||gingivitis vincent apos s D005892||infection vincent D005892||infection vincent apos s D005892||membranous gingivitides acute D005892||membranous gingivitis acute D005892||mouth trench D005892||necrotizing ulcerative gingivitis D005892||phagedenic gingivitides D005892||phagedenic gingivitis D005892||stomatitides ulcerative D005892||stomatitis ulcerative D005892||stomatitis vincent apos s D005892||trench mouth D005892||ulcerative gingivitis necrotizing D005892||ulcerative stomatitides D005892||ulcerative stomatitis D005892||vincent angina D005892||vincent gingivitis D005892||vincent infection D005892||vincent apos s gingivitis D005892||vincents gingivitis D005892||vincent apos s infection D005892||vincents infection D005892||vincent apos s stomatitis D005892||vincents stomatitis D005892||vincent stomatitis D003231||conjunctivitis D003231||conjunctivitides D003232||conjunctivitis acute hemorrhagic D003232||acute hemorrhagic conjunctivitides D003232||acute hemorrhagic conjunctivitis D003232||conjunctivitides acute hemorrhagic D003232||hemorrhagic conjunctivitides acute D003232||hemorrhagic conjunctivitis acute D003233||conjunctivitis allergic D003233||allergic conjunctivitides D003233||allergic conjunctivitis D003233||atopic conjunctivitides D003233||atopic conjunctivitis D003233||conjunctivitides allergic D003233||conjunctivitides atopic D003233||conjunctivitides giant papillary D003233||conjunctivitides vernal D003233||conjunctivitis atopic D003233||conjunctivitis giant papillary D003233||conjunctivitis vernal D003233||giant papillary conjunctivitides D003233||giant papillary conjunctivitis D003233||keratoconjunctivitides vernal D003233||keratoconjunctivitis vernal D003233||papillary conjunctivitides giant D003233||papillary conjunctivitis giant D003233||vernal conjunctivitides D003233||vernal conjunctivitis D003233||vernal keratoconjunctivitides D003233||vernal keratoconjunctivitis D057135||wet macular degeneration D057135||degenerations wet macular D057135||degeneration wet macular D057135||macular degenerations wet D057135||macular degeneration wet D057135||wet macular degenerations D015218||hyperostosis sternocostoclavicular D015218||hyperostoses sternocostoclavicular D015218||sternocostoclavicular hyperostoses D015218||sternocostoclavicular hyperostosis D015217||cholesterol ester storage disease D015217|278000|C531854||cholesteryl ester storage disease D003240||connective tissue diseases D003240||connective tissue disease D003240||disease connective tissue D003240||diseases connective tissue D057130||leber congenital amaurosis D057130||abiotrophies leber D057130||abiotrophy leber D057130||amauroses leber congenital D057130||amauroses leber apos s D057130||amaurosis leber congenital D057130||amaurosis leber apos s D057130||blindness congenital retinal D057130||blindnesses congenital retinal D057130||congenital amauroses leber D057130||congenital amaurosis leber D057130||congenital amaurosis of retinal origin D057130||congenital retinal blindness D057130||congenital retinal blindnesses D057130||dysgenesis neuroepithelialis retinae D057130||hereditary epithelial dysplasia of retina D057130||hereditary retinal aplasia D057130||heredoretinopathia congenitalis D057130||leber abiotrophies D057130||leber abiotrophy D057130||leber amaurosis D057130||leber congenital amauroses D057130||leber congenital tapetoretinal degeneration D057130||leber apos s amauroses D057130||leber apos s amaurosis D057130||lebers amaurosis D057130||retinal blindnesses congenital D016545||choroid plexus neoplasms D016545||choroid plexus neoplasm D016545||choroid plexus neoplasms primary D016545||choroid plexus tumor D016545||choroid plexus tumors D016545||neoplasm choroid plexus D016545||neoplasms choroid plexus D016545||primary choroid plexus neoplasms D015210||arthritis gouty D015210||arthritides gouty D015210||gouty arthritides D015210||gouty arthritis D009447|256700||neuroblastoma D009447|256700||nblst1 included D009447|256700||nblst2 D009447|256700||nblst3 D009447|256700||nblst4 D009447|256700||nblst5 D009447|256700||nblst6 D009447|256700||neuroblastomas D009447|256700||neuroblastoma susceptibility to D009447|256700||neuroblastoma susceptibility to 1 included D009447|256700||neuroblastoma susceptibility to 2 D009447|256700||neuroblastoma susceptibility to 3 D009447|256700||neuroblastoma susceptibility to 4 D009447|256700||neuroblastoma susceptibility to 5 D009447|256700||neuroblastoma susceptibility to 6 D009447|256700||neuroblastoma with hirschsprung disease included D012516|259500||osteosarcoma D012516|259500||osrc D012516|259500||osteogenic sarcoma D012516|259500||osteogenic sarcomas D012516|259500||osteosarcomas D012516|259500||osteosarcoma tumor D012516|259500||osteosarcoma tumors D012516|259500||sarcoma osteogenic D012516|259500||sarcomas osteogenic D012516|259500||tumor osteosarcoma D012516|259500||tumors osteosarcoma D016543||central nervous system neoplasms D016543||central nervous system neoplasms primary D016543||central nervous system tumors D016543||neoplasms central nervous system D016543||primary central nervous system neoplasms D016543||tumors central nervous system D007918|246300||leprosy D007918|246300||disease hansen D007918|246300||disease hansen apos s D007918|246300||hansen disease D007918|246300||hansen apos s disease D007918|246300||hansens disease D007918|246300||leprosies D007918|246300||leprosy early onset susceptibility to included D007918|246300||leprosy paucibacillary type susceptibility to 1 D007918|246300||leprosy protection against included D007918|246300||leprosy susceptibility to 1 D007918|246300||leprosy susceptibility to 2 D007918|246300||leprosy susceptibility to 3 D007918|246300||leprosy susceptibility to 4 D007918|246300||leprosy susceptibility to 5 D007918|246300||leprosy susceptibility to 6 D007918|246300||lprs1 D007918|246300||lprs2 D007918|246300||lprs3 D007918|246300||lprs4 D007918|246300||lprs5 D007918|246300||lprs6 D017890||splenosis D017890||splenoses D045169||severe acute respiratory syndrome D045169||respiratory syndrome acute severe D045169||respiratory syndrome severe acute C567089|611771||lipoprotein glomerulopathy C567089|611771||lpg C564926|258450||progressive external ophthalmoplegia with mitochondrial dna deletions autosomal recessive C564926|258450||peob C564926|258450||progressive external ophthalmoplegia autosomal recessive C567730|613135||parkinsonism dystonia infantile C567730|613135||dopamine transporter deficiency syndrome C567730|613135||dtds C567730|613135||pkdys C548479||vulvar dysesthesia localized in the vestibule 105400|C531617||amyotrophic lateral sclerosis 1 105400|C531617||als1 105400|C531617||amyotrophic lateral sclerosis 1 autosomal dominant amyotrophic lateral sclerosis 1 autosomal recessive included 105400|C531617||amyotrophic lateral sclerosis 1 familial 105400|C531617||amyotrophic lateral sclerosis autosomal dominant 105400|C531617||amyotrophic lateral sclerosis familial 105400|C531617||amyotrophic lateral sclerosis sporadic included 105400|C531617||fals C536490|276901||usher syndrome type 2a C536490|276901||ush2a C536490|276901||usher syndrome type iia D003248||constipation D003248||colonic inertia D003248||dyschezia D003244||consciousness disorders D003244||altered level of consciousness D003244||consciousness disorder D003244||consciousness level altered D003244||consciousness level depressed D003244||depressed level of consciousness D003244||semiconsciousness D015229||sexually transmitted diseases viral D015229||diseases viral venereal D015229||disease viral venereal D015229||sexually transmitted disease viral D015229||venereal diseases viral D015229||venereal disease viral D015229||viral sexually transmitted disease D015229||viral sexually transmitted diseases D015229||viral venereal disease D015229||viral venereal diseases D015228||hypertriglyceridemia D015228||hypertriglyceridemias D003251||constriction pathologic D003251||constriction pathological D003251||constrictions pathologic D003251||pathological constriction D003251||pathologic constriction D003251||pathologic constrictions D003251||stenoses D003251||stenosis D003251||stricture D003251||strictures D015223||wolman disease D015223||acid cholesteryl ester hydrolase deficiency wolman type D015223||acid lipase deficiency D015223||disease wolman D015223||disease wolman apos s D015223||familial xanthomatoses D015223||familial xanthomatosis D015223||liposomal acid lipase deficiency wolman type D015223||wolman apos s disease D015223||wolmans disease D015223||wolman apos s xanthomatosis D015223||xanthomatoses familial D015223||xanthomatosis familial D015223||xanthomatosis wolman D015223||xanthomatosis wolmans D015223||xanthomatosis wolman apos s D017887||ossification of posterior longitudinal ligament D017887||calcification of posterior longitudinal ligament D017887||posterior longitudinal ligament calcification D017887||posterior longitudinal ligament ossification C548481||periventricular laminar heterotopia C548481||heterotopia periventricular C536463|611584||waardenburg syndrome type 2 C536463|611584||hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation C536463|611584||waardenburg syndrome type 2e C536463|611584||waardenburg syndrome type 2e with or without neurologic involvement C536463|611584||waardenburg syndrome type iie C536463|611584||ws2e C536463|611584||ws2e with or without neurologic involvement C562774||muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus D003218||condylomata acuminata D003218||genital wart D003218||genital warts D003218||venereal wart D003218||venereal warts D003218||wart genital D003218||warts genital D003218||warts venereal D003218||wart venereal C562773||diabetes mellitus type ii autosomal dominant 607822|C564330||alzheimer disease familial 3 with spastic paraparesis and apraxia 607822|C564330||ad3 607822|C564330|C536598||alzheimer disease 3 607822|C564330|C536598||alzheimer disease 3 early onset 607822|C564330||alzheimer disease familial 3 alzheimer disease familial 3 with spastic paraparesis and unusual plaques included 607822|C564330||alzheimer disease familial 3 with spastic paraparesis and apraxia included D005877||gigantism D005877||gigantism pituitary D005877||pituitary gigantism C566494|609968||hyperinsulinemic hypoglycemia familial 5 C566494|609968||hhf5 C562776||hyperproinsulinemia D004370|126800||duane retraction syndrome D004370|126800||acrorenoocular syndrome D004370|126800||acrorenoocular syndromes D004370|126800||anomalies isolated duane D004370|126800||anomaly duane D004370|126800||anomaly isolated duane D004370|126800||co contractive retraction syndrome D004370|126800||co contractive retraction syndromes D004370|126800||drrs D004370|126800||drs D004370|126800||dr syndrome D004370|126800||duane anomalies isolated D004370|126800||duane anomaly D004370|126800||duane anomaly isolated D004370|126800||duane anomaly with radial abnormalities and deafness D004370|126800||duane anomaly with radial ray abnormalities and deafness D004370|126800||duane radial ray syndrome D004370|126800||duane retraction syndrome 1 D004370|126800||duane retraction syndrome 2 D004370|126800||duane retraction syndrome type 1 D004370|126800||duane retraction syndrome type 2 D004370|126800||duane retraction syndrome type 3 D004370|126800||duane apos s syndrome D004370|126800||duanes syndrome D004370|126800||duane syndrome D004370|126800||durs1 D004370|126800||durs2 D004370|126800||dus D004370|126800||isolated duane anomalies D004370|126800||isolated duane anomaly D004370|126800||isolated duane retraction syndrome D004370|126800||ocular retraction syndrome D004370|126800||ocular retraction syndromes D004370|126800||okihiro syndrome D004370|126800||retraction syndrome D004370|126800||retraction syndrome co contractive D004370|126800||retraction syndrome duane D004370|126800||retraction syndrome ocular D004370|126800||retraction syndromes D004370|126800||retraction syndromes co contractive D004370|126800||retraction syndromes ocular D004370|126800||stilling turk duane syndrome D004370|126800||stilling turk duane syndromes D004370|126800||syndrome acrorenoocular D004370|126800||syndrome co contractive retraction D004370|126800||syndrome duane D004370|126800||syndrome duane radial ray D004370|126800||syndrome duane retraction D004370|126800||syndrome duane apos s D004370|126800||syndrome ocular retraction D004370|126800||syndrome okihiro D004370|126800||syndrome retraction D004370|126800||syndromes acrorenoocular D004370|126800||syndromes co contractive retraction D004370|126800||syndromes ocular retraction D004370|126800||syndromes retraction D004370|126800||syndromes stilling turk duane D004370|126800||syndrome stilling turk duane D004370|126800||type 1 duane retraction syndrome D004370|126800||type 2 duane retraction syndrome D004370|126800||type 3 duane retraction syndrome 300557|C564486||parkinson disease 12 300557|C564486||park12 300557|C564486||parkinson disease x linked D005871||giant lymph node hyperplasia D005871||angiofollicular lymph hyperplasia D005871||angiofollicular lymph hyperplasias D005871||angiofollicular lymph node hyperplasia D005871||angiofollicular lymphoid hyperplasia D005871||angiofollicular lymphoid hyperplasias D005871||castleman disease D005871||castleman apos s disease D005871||castlemans disease D005871||castleman apos s tumor D005871||castlemans tumor D005871||castleman tumor D005871||glnh D005871||hyperplasia angiofollicular lymph D005871||hyperplasia angiofollicular lymphoid D005871||hyperplasia giant lymph node D005871||hyperplasias angiofollicular lymph D005871||hyperplasias angiofollicular lymphoid D005871||lymph node hyperplasia giant D005871||lymphoid hyperplasia angiofollicular D005871||lymphoid hyperplasias angiofollicular D005871||tumor castleman apos s C565202|610320||myopia 14 C565202|610320||myp14 D005870||giant cell tumors D005870||cell tumor giant D005870||cell tumors giant D005870||giant cell tumor D005870||tumor giant cell D005870||tumors giant cell D005873||giardiasis D005873||giardiases D005873||lambliases D005873||lambliasis D004541||eisenmenger complex D004541||complex eisenmenger D004541||complex eisenmenger apos s D004541||eisenmenger apos s complex D004541||eisenmengers complex D004541||eisenmenger apos s syndrome D004541||eisenmengers syndrome D004541||eisenmenger syndrome D004541||syndrome eisenmenger D004541||syndrome eisenmenger apos s D058489||46 xx disorders of sex development D058489||46 xx dsd D058489||female pseudohermaphroditism D058489||female pseudohermaphroditisms D058489||pseudohermaphroditism female D058489||pseudohermaphroditisms female D016523||foot ulcer D016523||foot ulcers D016523||plantar ulcer D016523||plantar ulcers D016523||ulcer foot D016523||ulcer plantar D016523||ulcers foot D016523||ulcers plantar D005889||gingival recession D005889||atrophy of gingiva D005889||gingiva atrophies D005889||gingiva atrophy D005889||gingival atrophies D005889||gingival atrophy D005889||gingival recessions D005889||recession gingival D005889||recessions gingival C535423|601596||charcot marie tooth disease type 4c C535423|601596||charcot marie tooth disease demyelinating autosomal recessive type 4c C535423|601596||charcot marie tooth neuropathy type 4c C535423|601596||cmt4c C535423|601596||cmt 4c D003229||conjunctival diseases D003229||conjunctival disease D003229||disease conjunctival D003229||diseases conjunctival C562783||hypercalciuric hypocalcemia familial C562783||hypocalcemia autosomal dominant C562783||hypocalcemia familial C562783||hypoparathyroidism autosomal dominant C537127|258500||optic atrophy 6 C537127|258500||opa6 C537127|258500||optic atrophy congenital or early infantile autosomal recessive D005886||gingival hypertrophy D005886||gingival hypertrophies D005886||hypertrophies gingival D005886||hypertrophy gingival D005885||gingival hyperplasia D005885||gingival hyperplasias D005885||hyperplasia gingival D005885||hyperplasias gingival D005888||gingival pocket D005888||gingival pockets D005888||pocket gingival D005888||pockets gingival D005887||gingival neoplasms D005887||congenital epulides D005887||congenital epulis D005887||epulides congenital D005887||epulis congenital D005887||gingival neoplasm D005887||neoplasm gingival D005887||neoplasms gingival D004556||electric injuries D004556||accidental electrocution D004556||accidental electrocutions D004556||electric injury D004556||electrocution accidental D004556||electrocutions accidental D004556||injuries electric D004556||injury electric D005882||gingival diseases D005882||disease gingival D005882||diseases gingival D005882||epulides D005882||epulis D005882||gingival disease D005882||gingivoses D005882||gingivosis D005884||gingival hemorrhage D005884||gingival hemorrhages D005884||hemorrhage gingival D003221||confusion D003221||bewilderment D003221||confusional state D003221||confusional states D003221||confusion post ictal D003221||confusion reactive D003221||disorientation D003221||post ictal confusion D003221||reactive confusion D003221||state confusional D003221||states confusional D058499||retinal dystrophies D058499||dystrophies retinal D058499||dystrophy retinal D058499||retinal dystrophy D015208||smoke inhalation injury D015208||inhalation injuries smoke D015208||inhalation injury smoke D015208||injuries smoke inhalation D015208||injury smoke inhalation D015208||smoke inhalation injuries D005891||gingivitis D005891||gingivitides D015207||osteoarthritis hip D015207||coxarthroses D015207||coxarthrosis D015207||hip osteoarthritides D015207||hip osteoarthritis D015207||osteoarthritides hip D015207|140600|D010003||osteoarthritis of hip D015207||osteoarthritis of hips C563709|609508||stickler syndrome type i nonsyndromic ocular C563709|609508||drrd included C563709|609508||stickler syndrome atypical C563709|609508||stickler syndrome atypical rhegmatogenous retinal detachment autosomal dominant included C563709|609508||stickler syndrome type i predominantly ocular 604595||cholesterol level quantitative trait locus 1 604595||cholesterol level quantitative trait locus on chromosome 13 604595||cholesterol lowering factor 604595||clf 604595||clqtl1 D057165||proteostasis deficiencies D057165||deficiencies proteostasis D057165||deficiency proteostasis D057165||disease protein folding D057165||disease protein misfolding D057165||diseases protein folding D057165||diseases protein misfolding D057165||disorder protein folding D057165||disorder protein misfolding D057165||disorders protein folding D057165||disorders protein misfolding D057165||dysfunction proteostasis D057165||dysfunctions proteostasis D057165||folding disease protein D057165||folding diseases protein D057165||folding disorder protein D057165||folding disorders protein D057165||misfolding disease protein D057165||misfolding diseases protein D057165||misfolding disorder protein D057165||misfolding disorders protein D057165||protein folding disease D057165||protein folding diseases D057165||protein folding disorder D057165||protein folding disorders D057165||protein misfolding disease D057165||protein misfolding diseases D057165||protein misfolding disorder D057165||protein misfolding disorders D057165||proteostasis deficiency D057165||proteostasis dysfunction D057165||proteostasis dysfunctions C537457|309580||mental retardation hypotonic facies syndrome x linked 1 C537457|309580||carpenter waziri syndrome C537457|309580||chudley lowry hoar syndrome C537457|309580||chudley lowry syndrome C537457|309580||chudley mental retardation syndrome C537457|309580||chudley syndrome 1 C537457|309580||holmes gang syndrome C537457|309580||jms C537457|309580||juberg marsidi mental retardation syndrome C537457|309580||juberg marsidi syndrome C537457|309580||mental retardation x linked with growth retardation deafness and microgenitalism C537457|309580||mental retradation x linked with growth delay deafness microgenitalism C537457|309580||mrxhf1 C537457|309580||sfm1 C537457|309580||sfms C537457|309580||smith fineman myers syndrome 1 C537457|309580||x linked hypogonadism gynecomastia mental retardation C537457|309580||x linked mental retardation hypotonic facies syndrome C537457|309580||xlmr hypotonic facies syndrome D016534||cardiac output high D016534||cardiac outputs high D016534||high cardiac output D016534||high cardiac outputs D016535||bronchial hyperreactivity D016535||bronchial hyperreactivities D016535||hyperreactivities bronchial D016535||hyperreactivity bronchial C566397|603221||myopia 3 C566397|603221||myopia 3 autosomal dominant C566397|603221||myp3 C564284|608133||retinitis pigmentosa 7 C564284|608133||retinitis pigmentosa 7 digenic included C564284|608133||retinitis pigmentosa 7 with bull apos s eye maculopathy included C564284|608133||rp7 C536580||chromosome 18 deletion syndrome C536580||18q syndrome C536580||chromosome 18 monosomy 18q C536580||chromosome 18q deletion syndrome C536580||chromosome 18q syndrome C536580||monosomy 18q deletion 18q C536580||monosomy 18q syndrome C536581||chromosome 18 mosaic monosomy C536581||monosomy 18 mosaicism D004646||emphysema D003316||corneal diseases D003316||corneal disease D003316||disease corneal D003316||diseases corneal D003317||corneal dystrophies hereditary D003317||corneal dystrophy hereditary D003317||corneal granular dystrophies D003317||corneal granular dystrophy D003317||corneal macular dystrophies D003317||corneal macular dystrophy D003317||corneal stromal dystrophies D003317||corneal stromal dystrophy D003317||dystrophies corneal granular D003317||dystrophies corneal macular D003317||dystrophies corneal stromal D003317||dystrophies groenouw apos s D003317||dystrophies hereditary corneal D003317||dystrophy corneal granular D003317||dystrophy corneal macular D003317||dystrophy corneal stromal D003317||dystrophy hereditary corneal D003317||granular dystrophies corneal D003317||granular dystrophy corneal D003317||groenouw dystrophies D003317||groenouw apos s dystrophies D003317||groenouws dystrophies D003317||hereditary corneal dystrophies D003317||hereditary corneal dystrophy D003317||macular dystrophies corneal D003317||macular dystrophy corneal D003317||stromal dystrophies corneal D003317||stromal dystrophy corneal C536584||alpha mannosidosis type 1 D003318||corneal opacity D003318||corneal opacities D003318||leukoma D003318||leukomas D003318||opacities corneal D003318||opacity corneal C536585||alpha mannosidosis type 2 C536585||alpha mannosidosis adult onset form C562872||tuftsin deficiency C565553|231005||gaucher disease type iiic C537135|300238||orofaciodigital syndrome shashi type C537135|300238||mental retardation x linked shashi type C537135|300238||mental retardation x linked syndromic 11 C537135|300238||mrxs11 C537135|300238||shashi x linked mental retardation syndrome C537135|300238||smrxs D003310||cor triatriatum D003310||atriums subdivided left D003310||atrium subdivided left D003310||cor triatriatum sinistrum D003310||hearts triatrial D003310||heart triatrial D003310||left atriums subdivided D003310||left atrium subdivided D003310||subdivided left atrium D003310||subdivided left atriums D003310||triatrial heart D003310||triatrial hearts C563442|600795||frontotemporal dementia chromosome 3 linked C563442|600795||dem C563442|600795||dementia familial nonspecific C563442|600795||dmt1 C563442|600795|C579991||ftd3 D058387||candidemia D058387||candidemias C564547|300271||mental retardation x linked 72 C564547|300271||mrx72 C536579||chromosome 17 trisomy 17q22 C536579||duplication 17q C536579||trisomy 17q22 254110|C535897||limb girdle muscular dystrophy type 2h 254110|C535897||lgmd2h 254110|C535897||muscular dystrophy hutterite type 254110|C535897||muscular dystrophy limb girdle type 2h 254110|C535897||sarcotubular myopathy C536577||borrone di rocco crovato syndrome C536577||borrone dermatocardioskeletal syndrome C536358|301310||anemia sideroblastic spinocerebellar ataxia C536358|301310||anemia sex linked hypochromic siderobla C536358|301310||anemia sideroblastic and spinocerebellar ataxia C536358|301310||asat C536358|301310||pagon bird detter syndrome C536358|301310||sideroblastic anemia with spinocerebellar ataxia C536358|301310||x linked sideroblastic anemia and ataxia C536358|301310||xlsa a C564593|607313||gaze palsy familial horizontal with progressive scoliosis C564593|607313||familial horizontal gaze palsy with progressive scoliosis C564593|607313||familial idiopathic scoliosis associated with congenital encephalopathy C564593|607313||familial infantile scoliosis associated with bilateral paralysis of conjugate gaze C564593|607313||hgpps C564593|607313||horizontal gaze palsy with progressive scoliosis C564593|607313||ophthalmoplegia progressive external and scoliosis C564593|607313||ophthalmoplegia progressive external and scoliosis included C536578||chromosome 17 trisomy 17p11 2 C536578||duplication 17p11 2 C536578||trisomy 17p11 2 C536665|261550||persistent mullerian duct syndrome C536665|261550||female genital ducts in otherwise normal male C536665|261550||hernia uteri inguinale C536665|261550||persistent m 252 llerian duct syndrome C536665|261550||persistent mullerian duct syndrome types 1 and 2 C536665|261550||persistent mullerian duct syndrome types i and ii C536665|261550||persistent oviduct syndrome C536665|261550||pmds C536665|261550||pseudohermaphroditism male internal C536593||alves castelo dos santos syndrome C536593||ectodermal dysplasia syndrome of hypotrichosis onychodysplasia hyperkeratosis kyphoscoliosis and cataract C536594||alzheimer disease type 1 C536594||alzheimer disease 1 C536594||early onset familial form of alzheimer disease C536591||alveolar echinococcosis C562884||fibromatosis gingival type 1 C536598||alzheimer disease familial type 3 C536598||alzheimer disease early onset type 3 C536598||alzheimer disease familial 3 C536598||alzheimer disease type 3 C562885||hyperbilirubinemia conjugated type iii D003328||coronary thrombosis D003328||coronary thromboses D003328||thromboses coronary D003328||thrombosis coronary D003329||coronary vasospasm D003329||artery vasospasm coronary D003329||artery vasospasms coronary D003329||coronary artery vasospasm D003329||coronary artery vasospasms D003329||coronary vasospasms D003329||vasospasm coronary D003329||vasospasm coronary artery D003329||vasospasms coronary D003329||vasospasms coronary artery D004654||empyema tuberculous D004654||empyema pleural tuberculous D004654||empyemas tuberculous D004654||tuberculous empyema D004654||tuberculous empyemas D004653||empyema D003323||coronary aneurysm D003323||aneurysm coronary D003323||aneurysms coronary D003323||coronary aneurysms D057072||intra articular fractures D057072||fracture intraarticular D057072||fracture intra articular D057072||fractures intraarticular D057072||fractures intra articular D057072||intraarticular fracture D057072||intra articular fracture D057072||intraarticular fractures D003324||coronary artery disease D003324||arterioscleroses coronary D003324||arteriosclerosis coronary D003324||artery disease coronary D003324||artery diseases coronary D003324||atheroscleroses coronary D003324||atherosclerosis coronary D003324||coronary arterioscleroses D003324||coronary arteriosclerosis D003324||coronary artery diseases D003324||coronary atheroscleroses D003324||coronary atherosclerosis D003324||disease coronary artery D003324||diseases coronary artery C562886||ichthyosis congenita with biliary atresia D004652||empty sella syndrome D004652||empty sella syndrome primary D004652||empty sella syndromes D004652||empty sella syndrome secondary D004652||empty sella turcica D004652||empty sella turcicas D004652||empty sella turcica syndrome D004652||primary empty sella syndrome D004652||secondary empty sella syndrome D004652||sella turcica empty D004652||sella turcicas empty D003320||corneal ulcer D003320||keratitides ulcerative D003320||keratitis ulcerative D003320||ulcerative keratitides D003320||ulcerative keratitis D003320||ulcer corneal C564710|606407||hypotonia cystinuria syndrome C564710|606407||cystinuria with mitochondrial disease C564710|606407||homozygous 2p16 deletion syndrome formerly homozygous 2p21 deletion syndrome included C564710|606407||homozygous 2p21 deletion syndrome 609179|D020325||migraine with aura 609179|D020325||acute onset aura migraine 609179|D020325||basilar artery migraine 609179|D020325||basilar migraine 609179|D020325||basilar migraines 609179|D020325||basilar type migraine 609179|D020325||classical migraine 609179|D020325||classic migraine 609179|D020325||complicated migraine 609179|D020325||familial hemiplegic migraine 609179|D020325||familial hemiplegic migraines 609179|D020325||hemiplegic migraine familial 609179|D020325||hemiplegic ophthalmoplegic migraine 609179|D020325||mgr7 609179|D020325||mgr9 609179|D020325||migraine aura without headache 609179|D020325||migraine basilar 609179|D020325||migraine basilar artery 609179|D020325||migraine basilar type 609179|D020325||migraine classic 609179|D020325||migraine classical 609179|D020325||migraine complicated 609179|D020325||migraine prolonged aura 609179|D020325||migraine with acute onset aura 609179|D020325||migraine with auras 609179|D020325||migraine with aura susceptibility to 7 609179|D020325||migraine with aura susceptibility to 9 609179|D020325||migraine with prolonged aura 609179|D020325||migraine with typical aura 609179|D020325||prolonged aura migraine 609179|D020325||typical aura without headache D057068||periprosthetic fractures D057068||fracture peri implant D057068||fracture periprosthetic D057068||fractures peri implant D057068||fractures periprosthetic D057068||peri implant fracture D057068||peri implant fractures D057068||periprosthetic fracture D057066||low tension glaucoma D057066||glaucoma low tension D057066||glaucoma normal tension D057066||glaucomas low tension D057066||glaucomas normal tension D057066||low tension glaucomas D057066||normal tension glaucoma D057066||normal tension glaucomas D057066||tension glaucoma low D057066||tension glaucoma normal D057066||tension glaucomas low D057066||tension glaucomas normal D016638||critical illness D016638||critical illnesses D016638||critically ill D016638||illness critical D016638||illnesses critical 115197|C566169||cardiomyopathy familial hypertrophic 4 115197|C566169||cardiomyopathy familial hypertrophic 4 susceptibility to included 115197|C566169||cmh4 C566550|602433||amyotrophic lateral sclerosis 4 juvenile C566550|602433||als4 C566550|602433||neuronopathy distal hereditary motor with pyramidal features C536588||alsing syndrome C535272||premature ovarian failure familial C535272||familial premature ovarian failure C535272||idiopathic familial premature ovarian failure C535273||presenile dementia kraepelin type C535273||catatonia of kraepelin C535273||kraepelin disease C535276||primary angiitis of the central nervous system C535276||pacns D005955||glucosephosphate dehydrogenase deficiency D005955||deficiencies g6pd D005955||deficiencies glucose 6 phosphate dehydrogenase D005955||deficiencies glucosephosphate dehydrogenase D005955||deficiencies gpd D005955||deficiency g6pd D005955||deficiency glucose 6 phosphate dehydrogenase D005955||deficiency glucosephosphate dehydrogenase D005955||deficiency gpd D005955||deficiency of glucose 6 phosphate dehydrogenase D005955||dehydrogenase deficiencies glucose 6 phosphate D005955||dehydrogenase deficiencies glucosephosphate D005955||dehydrogenase deficiency glucose 6 phosphate D005955||dehydrogenase deficiency glucosephosphate D005955||g6pd deficiencies D005955||g6pd deficiency D005955||glucose 6 phosphate dehydrogenase deficiencies D005955||glucose 6 phosphate dehydrogenase deficiency D005955||glucosephosphate dehydrogenase deficiencies D005955||gpd deficiencies D005955||gpd deficiency D005955||hemolytic anemia due to g6pd deficiency C535275||primary amebic meningoencephalitis C535275||meningoencephalitis caused by naegleria fowleri 609054|C563801||fanconi anemia complementation group j 609054|C563801||fancj D004620||embolism fat D004620||embolisms fat D004620||fat embolism D004620||fat embolisms D042822||genomic instability D042822||genome instabilities D042822||genome instability D042822||genome stabilities D042822||genome stability D042822||genomic instabilities D042822||genomic stabilities D042822||genomic stability D042822||instabilities genome D042822||instabilities genomic D042822||instability genome D042822||instability genomic D042822||stabilities genome D042822||stabilities genomic D042822||stability genome D042822||stability genomic D005953||glycogen storage disease type i D005953||deficiencies glucose 6 phosphatase D005953||deficiencies glucosephosphatase D005953||deficiency glucose 6 phosphatase D005953||deficiency glucosephosphatase D005953||disease gierke D005953||disease gierke apos s D005953||disease von gierke D005953||disease von gierke apos s D005953||gierke disease D005953||gierke apos s disease D005953||gierkes disease D005953||glucose 6 phosphatase deficiencies D005953|C538655|232200||glucose 6 phosphatase deficiency D005953||glucosephosphatase deficiencies D005953||glucosephosphatase deficiency D005953||glycogenosis 1 D005953||glycogen storage disease 1 gsd i D005953||hepatorenal glycogen storage disease D005953|C538655|232200||von gierke disease D005953||von gierke apos s disease D005953||von gierkes disease D057085||tooth wear D057085||dental wear D057085||dental wears D057085||tooth wears D057085||wear dental D057085||wears dental D057085||wears tooth D057085||wear tooth C538387|145410||autosomal dominant opitz syndrome ados C538387|145410||bbb syndrome C538387|145410||chromosome 22q11 2 deletion syndrome opitz phenotype C538387|145410||gbbb syndrome C538387|145410||g syndrome C538387|145410||hypertelorism hypospadias sydrome C538387|145410||hypertelorism with esophageal abnormalities and hypospadias C538387|145410||hypospadias dysphagia syndrome C538387|145410||ogs2 C538387|145410||opitz bbbg syndrome C538387|145410||opitz bbb g syndrome C538387|145410||opitz bbb syndrome C538387|145410||opitz frias syndrome C538387|145410||opitz g bbb syndrome C538387|145410||opitz gbbb syndrome autosomal dominant C538387|145410||opitz gbbb syndrome type ii C538387|145410||opitz g syndrome C538387|145410||opitz g syndrome type 2 C538387|145410||opitz g syndrome type ii C538387|145410||opitz oculogenitolaryngeal syndrome type ii C538387|145410||telecanthus with associated abnormalities C535270||premature aging okamoto type C562858||cholesteatoma congenital C563792|609122||aneurysm intracranial berry 3 C563792|609122||anib3 D016609||neoplasms second primary D016609||cancer second D016609||cancer second primary D016609||cancers second D016609||cancers second primary D016609||cancers therapy associated D016609||cancers therapy related D016609||cancers treatment associated D016609||cancers treatment related D016609||cancer therapy associated D016609||cancer therapy related D016609||cancer treatment associated D016609||cancer treatment related D016609||malignancies second D016609||malignancy second D016609||metachronous neoplasm D016609||metachronous neoplasms D016609||metachronous second primary neoplasms D016609||neoplasm metachronous D016609||neoplasm second D016609||neoplasm second primary D016609||neoplasms metachronous D016609||neoplasms metachronous second primary D016609||neoplasms second D016609||neoplasms therapy associated D016609||neoplasms therapy related D016609||neoplasms treatment associated D016609||neoplasms treatment related D016609||neoplasm therapy associated D016609||neoplasm therapy related D016609||neoplasm treatment associated D016609||neoplasm treatment related D016609||second cancer D016609||second cancers D016609||second malignancies D016609||second malignancy D016609||second neoplasm D016609||second neoplasms D016609||second primary cancer D016609||second primary cancers D016609||second primary neoplasm D016609||second primary neoplasms D016609||second primary neoplasms metachronous D016609||therapy associated cancer D016609||therapy associated cancers D016609||therapy associated neoplasm D016609||therapy associated neoplasms D016609||therapy related cancer D016609||therapy related cancers D016609||therapy related neoplasm D016609||therapy related neoplasms D016609||treatment associated cancer D016609||treatment associated cancers D016609||treatment associated neoplasm D016609||treatment associated neoplasms D016609||treatment related cancer D016609||treatment related cancers D016609||treatment related neoplasm D016609||treatment related neoplasms D016603||eosinophilia myalgia syndrome D016603||eosinophilia myalgia syndrome l tryptophan related D016603||eosinophilia myalgia syndromes D016603||eosinophilia myalgia syndromes l tryptophan related D016603||l tryptophan related eosinophilia myalgia syndrome D016603||l tryptophan related eosinophilia myalgia syndromes D016603||syndrome eosinophilia myalgia D016603||syndrome eosinophilia myalgia l tryptophan related D016603||syndrome l tryptophan related eosinophilia myalgia D016603||syndromes eosinophilia myalgia D016603||syndromes l tryptophan related eosinophilia myalgia D016606||thyroid nodule D016606||nodules thyroid D016606||nodule thyroid D016606||thyroid nodules C535269||preeyasombat varavithya syndrome C535269||fanconi syndrome caused by degraded tetracycline C536600|204000||amaurosis congenita of leber type 1 C536600|204000||amaurosis congenita of leber i C536600|204000||crb C536600|204000||lca C536600|204000||lca1 C536600|204000||leber congenital amaurosis 1 C536600|204000||leber congenital amaurosis type 1 C536600|204000||retinal blindness congenital C536599||alzheimer apos s disease without neurofibrillary tangles C536599||alzheimer disease without neurofibrillary tangles C536599||alzheimer apos s disease without tau pathology 267430|C537048||renal tubular dysgenesis 267430||primitive renal tubule syndrome renal tubular dysgenesis with choanal atresia and athelia included 267430||rtd D016602||needlestick injuries D016602||injuries needlestick D016602||injuries needle stick D016602||injuries sharps D016602||injury needlestick D016602||injury needle stick D016602||injury sharps D016602||needlestick D016602||needle stick D016602||needle stick injuries D016602||needlestick injury D016602||needle stick injury D016602||needlesticks D016602||needle sticks D016602||sharps injuries D016602||sharps injury D001528|109650||behcet syndrome D001528|109650||adamantiades behcet disease D001528|109650||bd D001528|109650||behcet disease D001528|109650||beh 231 et disease D001528|109650||behcet apos s syndrome D001528|109650||behcets syndrome D001528|109650||behcet triple symptom complex D001528|109650||old silk route disease D001528|109650||triple symptom complex C535283||rambaud galian syndrome C535436|158810||bethlem myopathy C535436|158810||benign congenital muscular dystrophy C535436|158810||benign congenital myopathy with contractures C535436|158810||muscular dystrophy benign congenital C535436|158810||myopathy benign congenital with contractures C535285||ramon syndrome C535285||gingival fibromatosis combined with cherubism C565718|610149||macular degeneration age related 7 C565718|610149||macular degeneration age related 7 armd7 macular degeneration age related neovascular type susceptibility C565718|610149||macular degeneration age related wet type susceptibility to included C565718|610149|C562694|600669||to included C562632|219200||cutis laxa autosomal recessive type iia C562632|219200||arcl2 C562632|219200||arcl2a C562632|219200||cutis laxa debre type C562632|219200||cutis laxa with bone dystrophy C562632|219200||cutis laxa with congenital disorder of glycosylation C562632|219200||cutis laxa with growth and developmental delay C562632|219200||cutis laxa with joint laxity and retarded development C562632|219200||cutis laxa with or without congenital disorder of glycosylation C535284||ramer ladda syndrome C535284||humero radial synostosis C535284||humeroradial synostosis C535287||hunt apos s syndrome C535287||myoclonus and ataxia C535287||ramsay hunt syndrome type 2 C535286||ramos arroyo clark syndrome C535286||ramos arroyo syndrome C566951|611451||deafness autosomal recessive 63 C566951|611451||dfnb63 D017240|251900||mitochondrial myopathies D017240|251900||disease luft D017240|251900||disease luft apos s D017240|251900||luft disease D017240|251900||luft apos s disease D017240|251900||lufts disease D017240|251900||megaconial myopathies D017240|251900||megaconial myopathy D017240|251900||mitochondrial myopathy D017240|251900||myopathies mitochondrial D017240|251900||myopathies pleoconial D017240|251900||myopathy megaconial D017240|251900||myopathy pleoconial D017240|251900||pleoconial myopathies D017240|251900||pleoconial myopathy C562866||thromboxane synthetase deficiency 609148|D008288||malaria 609148|D008288||fever marsh 609148|D008288||fever remittent 609148|D008288||infection plasmodium 609148|D008288||infections plasmodium 609148|D008288||malaria cerebral resistance to included 609148|D008288||malaria cerebral susceptibility to included 609148|D008288||malaria mild susceptibility to 609148|D008288||malaria resistance to included 609148|D008288||malaria severe resistance to included 609148|D008288||malaria severe susceptibility to included 609148|D008288||malaria susceptibility to 609148|D008288||mals 609148|D008288||marsh fever 609148|D008288||paludism 609148|D008288||plasmodium infection 609148|D008288||plasmodium infections 609148|D008288||remittent fever D057096||shellfish poisoning D057096||amnesic shellfish poisoning D057096||amnesic shellfish poisonings D057096||diarrhetic shellfish poisoning D057096||diarrhetic shellfish poisonings D057096||neurotoxic shellfish poisoning D057096||neurotoxic shellfish poisonings D057096||paralytic shellfish poisoning D057096||paralytic shellfish poisonings D057096||poisoning amnesic shellfish D057096||poisoning diarrhetic shellfish D057096||poisoning neurotoxic shellfish D057096||poisoning paralytic shellfish D057096||poisonings amnesic shellfish D057096||poisonings diarrhetic shellfish D057096||poisoning shellfish D057096||poisonings neurotoxic shellfish D057096||poisonings paralytic shellfish D057096||poisonings shellfish D057096||shellfish poisoning amnesic D057096||shellfish poisoning diarrhetic D057096||shellfish poisoning neurotoxic D057096||shellfish poisoning paralytic D057096||shellfish poisonings D057096||shellfish poisonings amnesic D057096||shellfish poisonings diarrhetic D057096||shellfish poisonings neurotoxic D057096||shellfish poisonings paralytic D057090||eccrine porocarcinoma D057090||eccrine porocarcinomas D057090||eccrine poroma malignant D057090||eccrine poromas malignant D057090||malignant eccrine poroma D057090||malignant eccrine poromas D057090||porocarcinoma eccrine D057090||porocarcinomas eccrine D057090||poroma malignant eccrine D057090||poromas malignant eccrine D004630||emergencies D004630||emergency D057091||poroma D057091||apocrine poroma D057091||apocrine poromas D057091||eccrine poroma D057091||hidracanthoma simplex D057091||poroma apocrine D057091||poromas D057091||poromas apocrine D057091||simplex hidracanthoma C562868||posttransfusion purpura C535281||radius absent anogenital anomalies C535281||radial aplasia and anogenital anomalies C535281||radial aplasia x linked D057092||geographic atrophy D057092||atrophies geographic D057092||atrophy geographic D057092||degeneration dry macular D057092||degenerations dry macular D057092||dry macular degeneration D057092||dry macular degenerations D057092||geographic atrophies D057092||macular degeneration dry D057092||macular degenerations dry C562869||secretory component deficiency C562869||iga deficiency secretory C535280||primary cortisol resistance C565227|609800||generalized epilepsy with febrile seizures plus type 4 C565227|609800||gefs 4 C565227|609800||gefsp4 C565227|609800||gefsp type 4 C565227|609800||gefs type 4 607482|C564390||cardiomyopathy dilated 1m 607482|C564390||cmd1m D057088||anetoderma D057088||anetoderma primary D057088||anetodermas D057088||anetoderma secondary D057088||anetodermas primary D057088||anetodermas secondary D057088||primary anetoderma D057088||primary anetodermas D057088||secondary anetoderma D057088||secondary anetodermas D010040|166800||otosclerosis D010040|166800||otoscleroses D010040|166800||otosclerosis 1 D010040|166800||otospongioses D010040|166800||otospongiosis D010040|166800||ots D010040|166800||otsc1 C536366|300652||angioma serpiginosum x linked C536366|300652||angioma serpiginosum C566498|609946||deafness autosomal recessive 47 C566498|609946||dfnb47 C563688|609915||cardiomyopathy dilated 1q C563688|609915||cmd1q C537874||larsen syndrome recessive type C537874||autosomal recessive larsen syndrome C537874||larsen syndrome recessive C536543||vertebral body fusion overgrowth C536543||progressive anterior vertebral body fusion overgrowth and distinct craniofacial appearance C562830||patent ductus venosus C562830||portosystemic venous shunt congenital D021184||nut hypersensitivity D021184||allergies nut D021184||allergies tree nut D021184||allergy nut D021184||allergy tree nut D021184||hypersensitivities nut D021184||hypersensitivities tree nut D021184||hypersensitivity nut D021184||hypersensitivity tree nut D021184||nut allergies D021184||nut allergy D021184||nut hypersensitivities D021184||nut hypersensitivities tree D021184||nut hypersensitivity tree D021184||tree nut allergies D021184||tree nut allergy D021184||tree nut hypersensitivities D021184||tree nut hypersensitivity D004605||elephantiasis filarial D004605||bancroftian elephantiases D004605||bancroftian elephantiasis D004605||elephantiases bancroftian D004605||elephantiases filarial D004605||elephantiasis bancroftian D004605||filarial elephantiases D004605||filarial elephantiasis D004605||filariases lymphatic D004605||filariasis lymphatic D004605||lymphatic filariases D004605||lymphatic filariasis C536540||verloes van maldergem marneffe syndrome C536540||dominantly inherited bone dysplasia with severe eye involvement C536540||microspherophakia metaphyseal dysplasia D021183||peanut hypersensitivity D021183||allergies peanut D021183||allergy peanut D021183||groundnut hypersensitivity D021183||hypersensitivity groundnut D021183||hypersensitivity peanut D021183||peanut allergies D021183||peanut allergy D005935||glucagonoma D005935||adenoma alpha cell D005935||adenomas alpha cell D005935||alpha cell adenoma D005935||alpha cell adenomas D005935||alpha cell tumor D005935||alpha cell tumors D005935||glucagonomas D005935||glucagonoma syndrome D005935||glucagonoma syndromes D005935||syndrome glucagonoma D005935||syndromes glucagonoma D005935||tumor alpha cell D005935||tumors alpha cell 250620|C562803||beta hydroxyisobutyryl coa deacylase deficiency 250620|C562803||3 hydroxyisobutyryl coa hydrolase deficiency 250620|C562803||hibch deficiency 250620|C562803||methacrylic acid toxicity 250620|C562803||methacrylic aciduria 250620|C562803||valine metabolic defect D004604||elephantiasis D004604||bigfoot disease D004604||bigfoot diseases D004604||disease bigfoot D004604||disease microcrystal D004604||diseases bigfoot D004604||diseases microcrystal D004604||elephantiases D004604||elephantiases endemic D004604||elephantiases endemic non filarial D004604||elephantiasis endemic D004604||elephantiasis endemic non filarial D004604||elephantiasis nostras verrucosa D004604||elephantiasis nostras verrucosas D004604||endemic elephantiases D004604||endemic elephantiasis D004604||endemic non filarial elephantiases D004604||endemic non filarial elephantiasis D004604||foot mossy D004604||foots mossy D004604||lymphostatic verrucoses D004604||lymphostatic verrucosis D004604||microcrystal disease D004604||microcrystal diseases D004604||mossy foot D004604||mossy foots D004604||non filarial elephantiases endemic D004604||non filarial elephantiasis endemic D004604||nostras verrucosa elephantiasis D004604||nostras verrucosas elephantiasis D004604||podoconioses D004604||podoconiosis D004604||verrucosa elephantiasis nostras D004604||verrucosas elephantiasis nostras D004604||verrucoses lymphostatic D004604||verrucosis lymphostatic C537872||larsen like syndrome lethal type C537872||larsen like multiple joint dislocation syndrome C536541||verloove vanhorick brubakk syndrome C536541||cleft limb heart malformation syndrome D021182||wheat hypersensitivity D021182||allergies wheat D021182||allergy wheat D021182||hypersensitivities wheat D021182||hypersensitivity wheat D021182||wheat allergies D021182||wheat allergy D021182||wheat hypersensitivities C562833||pulmonary atresia with ventricular septal defect C562832||pulmonary atresia with intact ventricular septum C562838||comedones familial dyskeratotic 612954||myopathy myofibrillar 6 612954||mfm6 612954|C567843||myopathy myofibrillar bag3 related C562835||intestinal malrotation familial 612953|C567844||parkinson disease 14 autosomal recessive 612953|C567844||dystonia parkinsonism adult onset 612953||park14 611630||epilepsy familial temporal lobe 3 611630||etl3 611630||fmtle 607823|C564327||hypotrichosis lymphedema telangiectasia syndrome 607823|C564327||hlts C537919|228300||fertile eunuch syndrome C537866||oculocerebral hypopigmentation syndrome type preus C537866||cross syndrome C537866||kramer syndrome C537866||oculocerebral hypopigmentation syndrome of preus C537866||oculocerebral syndrome with hypopigmentation C536535||vein of galen aneurysm C536535||ectasia or varix of the vein of galen C536535||galenic arteriovenous malformation C536535||galen vein aneurysm C536535||vein of galen aneurysm malformation C536536||velofacioskeletal syndrome C538324|246450||3 hydroxy 3 methylglutaryl coa lyase deficiency C538324|246450||3 hydroxy 3 methylglutaric aciduria C538324|246450||3 hydroxy 3 methyl glutaric aciduria C538324|246450||3 hydroxy 3 methylglutaryl coenzyme a lyase deficiency C538324|246450||3 hydroxyl 3 methyl glutaric aciduria C538324|246450||deficiency of hydroxymethylglutaryl coa lyase C538324|246450||hl deficiency C538324|246450||hmgcld C538324|246450||hmgcl deficiency C538324|246450||hmg coa lyase deficiency C538324|246450||hydroxymethylglutaric aciduria C536533||vasquez hurst sotos syndrome D011565|177900||psoriasis D011565|177900||palmoplantaris pustulosis D011565|177900||psoriases D011565|177900||psoriasis susceptibility 1 D011565|177900||psoriasis susceptibility 10 D011565|177900||psoriasis susceptibility 11 D011565|177900||psoriasis susceptibility 12 D011565|177900||psoriasis susceptibility 2 D011565|177900||psoriasis susceptibility 3 D011565|177900||psoriasis susceptibility 4 D011565|177900||psoriasis susceptibility 5 D011565|177900||psoriasis susceptibility 6 D011565|177900||psoriasis susceptibility 7 D011565|177900||psoriasis susceptibility 8 D011565|177900||psoriasis susceptibility 9 D011565|177900||psors1 D011565|177900||psors10 D011565|177900||psors11 D011565|177900||psors12 D011565|177900||psors2 D011565|177900||psors3 D011565|177900||psors4 D011565|177900||psors5 D011565|177900||psors6 D011565|177900||psors7 D011565|177900||psors8 D011565|177900||psors9 D011565|177900||pustular psoriasis of palms and soles D011565|177900||pustulosis of palms and soles D011565|177900||pustulosis palmaris et plantaris C537865||oculoauriculofrontonasal syndrome C537865||oculoauriculofrontonasal dysplasia C536539||verloes gillerot fryns syndrome C536539||cerebro acro visceral early lethality multiplex syndrome C536537||ventricular extrasystoles perodactyly robin sequence 612581|C567240||mental retardation autosomal dominant 4 612581|C567240||mrd4 C537869||laplane fontaine lagardere syndrome C537869||familial syndesmodysplasic dwarfism C537869||syndesmodysplasic dwarfism C536538||verloes bourguignon syndrome C536538||platyspondyly with amelogenesis imperfecta C536538||skeletal dysplasia with amelogenesis imperfecta and platyspondyly D004618||embolism air D004618||air embolism D004618||air embolisms D004618||embolism gas D004618||embolisms air D004618||embolisms gas D004618||gas embolism D004618||gas embolisms 176620|C531791||priapism familial idiopathic 176620|C531791||familial idiopathic priapism D004617||embolism D004617||embolisms D004617||embolus C536550||tricho dento osseous syndrome 1 D004619||embolism amniotic fluid D004619||amniotic fluid embolism D004619||amniotic fluid embolisms D004619||embolisms amniotic fluid D004614||emaciation D004614||emaciations C536553||trichofolliculoma C536553||congenital trichofolliculoma C536553||recurrent trichofolliculoma C536553||sebaceous trichofolliculoma C562840||breast cancer familial C537885||peters anomaly with cataract C536554||oliver mcfarlane syndrome C536554||congenital trichomegaly pigmentary retinal degeneration and short stature C536554||eyelashes long mental retardation C536554||trichomegaly retina pigmentary degeneration dwarfism C562841||ovarian germ cell cancer C537882||laurence prosser rocker syndrome C536551||trichodental syndrome C536551||tricho dental dysplasia C536551||trichodental dysplasia C536551||tricho dental syndrome 300558|C563146||mental retardation x linked 30 300558|C563146||mrx30 606049|C535656||acromegaloid features overgrowth cleft palate and hernia 606049|C535656||aoch C563660|610828||holoprosencephaly 7 C563660|610828||hpe7 D004612||elliptocytosis hereditary D004612||elliptocytoses hereditary D004612||hereditary elliptocytoses D004612||hereditary elliptocytosis D004612||hereditary ovalocytoses D004612||hereditary ovalocytosis D004612||ovalocytoses hereditary D004612||ovalocytosis hereditary C535600|223360||dopamine beta hydroxylase deficiency C535600|223360||congenital dopamine beta hydroxylase deficiency C535600|223360||dopamine beta hydroxylase deficiency congenital C535600|223360||dopamine b hydroxylase C535600|223360||noradrenaline deficiency C535600|223360||norepinephrine deficiency C537877||late onset congenital adrenal hyperplasia C537877||attenuated congenital adrenal hyperplasia C537877||locah C537877||nccah C537877||non classic congenital adrenal hyperplasia D021181||egg hypersensitivity D021181||allergies egg D021181||allergy egg D021181||egg allergies D021181||egg allergy D021181||egg hypersensitivities D021181||hypersensitivities egg D021181||hypersensitivity egg 609308|D058494|236670||muscular dystrophy dystroglycanopathy limb girdle type c 1 609308|D058494|236670||lgmd2k 609308||mddgc1 609308|D058494|236670||muscular dystrophy limb girdle type 2k C537878||lateral meningocele syndrome C537878||lehman syndrome C537875||laryngeal cleft C537875||anterior submucous laryngeal cleft C537875||congenital laryngeal clefts C537875||posterior laryngeal cleft plc C536544||treft sanborn carey syndrome C536544||dominant optic atrophy deafness ptosis ophthalmoplegia dystaxia and myopathy C537876||laryngeal papillomatosis C537876||juvenile laryngeal papillomatosis C537876||recurrent laryngeal papillomatosis C537876||warts in the throat C537879||lateral semicircular canal malformation familial with external and middle ear abnormalities C567925|147060||hyper ige recurrent infection syndrome autosomal dominant C567925|147060|D007589|243700||hies autosomal dominant C567925|147060|D007589|243700||hyper ige syndrome autosomal dominant C567925|147060|D007589|243700||job syndrome C536549||tricho dento osseous syndrome C536549|190320||trichodentoosseous syndrome C537891||pfeiffer tietze welte syndrome C537892||phace association C537892||phaces association D005918||glomus tumor D005918||glomangioma D005918||glomangiomas D005918||glomus tumors D005918||tumor glomus D005918||tumors glomus C537890||pfeiffer rockelein syndrome C537890||asymmetrical coronal synostosis cutaneous syndactyly of fingers and toes and jejunal atresia 600955|C563423||proprotein convertase 1 3 deficiency 600955|C563423||obesity and endocrinopathy due to impaired processing of prohormones C565089||doughnut lesions of skull familial C537895||phenol sulfotransferase deficiency C536564||triphalangeal thumbs brachyectrodactyly C536564||triphalangeal thumb and brachy ectrodactyly syndrome C536564||triphalangeal thumb and brachyectrodactyly syndrome C536564||triphalangeal thumbs with brachyectrodactyly D005911||gliosis D005911||astrocytosis D005911||glioses C536565||trueb burg bottani syndrome C536565||ectodermal dysplasia with corkscrew hairs C536565||tricho odonto onychodysplasia with syndactyly C537893||phacomatosis pigmentokeratotica C536562||triphalangeal thumb non opposable C536562||non opposable triphalangeal thumb C536562||triphalangeal thumb nonopposable C537894||phacomatosis pigmentovascularis C535493|609638||epidermolysis bullosa lethal acantholytic C535493|609638||ebla 612936|C567858||spastic paraplegia 50 autosomal recessive 612936||cerebral palsy spastic quadriplegic 3 formerly 612936||cpsq3 formerly 612936||spg50 C562816||harderoporphyria C565240|606263||paget disease of bone 4 C565240|606263||pdb4 C565090||double nail for fifth toe C562818||glutaric aciduria iii C562818||glutaryl coa oxidase deficiency D008199||lymphadenitis D008199||adenitides D008199||adenitis D008199||lymphadenitides C563295|601543||deafness autosomal dominant 12 C563295|601543||deafness autosomal dominant 8 C563295|601543||dfna12 C563295|601543||dfna8 C567218|612637||febrile convulsions familial 10 C567218|612637||convulsions familial febrile 10 C567218|612637||feb10 C567218|612637||febrile seizures familial 10 C567218|612637||seizures familial febrile 10 C537888||pfeiffer mayer syndrome C536557||trichoscyphodysplasia C536557||cupped metaphyses and cone shaped epiphyses with alopecia C536557||metaphyseal chondrodysplasia with cone shaped epiphyses and alopecia C536557||metaphyseal chondrodysplasia with ectodermal dysplasia C565097||digitotalar dysmorphism C565097||ulnar drift hereditary C537889||pfeiffer palm teller syndrome C536558||trichostasis spinulosa D008193||lyme disease D008193||arthritis lyme D008193||borreliosis lyme D008193||disease lyme D008193||lyme arthritis D008193||lyme borreliosis C565098||diastema dental medial C537886||petty laxova wiedemann syndrome C537093|113100||brachydactyly type c C537093|113100||bdc C537093|113100||brachydactyly haws type C565099||diarrhea glucose stimulated secretory with common variable immunodeficiency C537887||pfeiffer kapferer syndrome C537887||short stature mental retardation and multiple dysmorphisms C536556||trichorrhexis nodosa syndrome C536556||pollitt syndrome C536556||trichothiodystrophy neurocutaneous syndrome C536556||trichothiodystrophy neurotrichocutaneous syndrome of pollitt C565092||distichiasis with congenital anomalies of the heart and peripheral vasculature C565093||distal osteosclerosis C565093||osteosclerosis distal C565094||disproportionate short stature with ptosis and valvular heart lesions C565095||megaloblastic anemia due to dihydrofolate reductase deficiency C565095||dhfr deficiency C536571||boerhaave syndrome C536571||boerhaave apos s syndrome C536571||boerhave syndrome D005926||glossalgia D005926||glossalgias D005926||glossodynia D005926||glossodynias D005926||glossopyroses D005926||glossopyrosis C536572||bone marrow failure syndromes D005929||glossitis benign migratory D005929||benign migratory glossitis D005929||geographic tongue D005929||glossitis areata exfoliativa D005929||migratory glossitis benign D005929||tongue geographic D006976|178600||hypertension pulmonary D006976|178600||pht D006976|178600||pph1 D006976|178600||pph1 with hht included D006976|178600||pulmonary arterial hypertension pah pulmonary hypertension primary dexfenfluramine associated included D006976|178600||pulmonary hypertension D006976|178600|C536282||pulmonary hypertension primary 1 D006976|178600||pulmonary hypertension primary 1 with hereditary hemorrhagic telangiectasia included D006976|178600||pulmonary hypertension primary fenfluramine associated included D005928||glossitis D005928||glossitides C536576||bork stender schmidt syndrome C536576||bork syndrome C536576||uncombable hair retinal pigmentary dystrophy dental anomalies and brachydactyly D005925||glomus jugulare tumor D005925|D010235|168000||glomus jugulare tumors D005925|D010235|168000||glomus tumors familial 1 D005925||jugulare tumor glomus D005925||jugulare tumors glomus D005925||tumor glomus jugulare D005925||tumors glomus jugulare 612929||mycobacterium tuberculosis susceptibility to 3 612929||mtbs3 C536574||bor duane hydrocephalus contiguous gene syndrome C536574||branchio oto renal duane hydrocephalus contiguous gene syndrome C562823||milia multiple eruptive D005921||glomerulonephritis D005921||bright disease D005921||glomerulonephritides D014849|148820||waardenburg syndrome D014849|148820||klein apos s syndrome D014849|148820||kleins syndrome D014849|148820||klein syndrome D014849|148820||klein waardenburg syndrome D014849|148820||syndrome klein D014849|148820||syndrome klein apos s D014849|148820||syndrome klein waardenburg D014849|148820||syndrome waardenburg D014849|148820||syndrome waardenburg klein D014849|148820||syndrome waardenburg apos s D014849|148820||waardenburg klein syndrome D014849|148820||waardenburg apos s syndrome D014849|148820||waardenburgs syndrome D014849|148820||waardenburg apos s syndrome type 1 D014849|148820||waardenburg syndrome type 1 D014849|148820||waardenburg syndrome type 3 D014849|148820||waardenburg syndrome type iii D014849|148820||waardenburg syndrome with dystopia canthorum D014849|148820||waardenburg syndrome with upper limb anomalies D014849|148820||white forelock poliosis syndrome with multiple congenital malformations D014849|148820||ws1 D014849|148820||ws3 C562827||alacrima C562824||poikiloderma hereditary sclerosing C563365|601228||polyposis syndrome hereditary mixed 1 C563365|601228||chromosome 15q13 q14 duplication syndrome 40 kb C563365|601228||colorectal adenoma and carcinoma 1 C563365|601228||colorectal adenoma and carcinoma 1 crac1 colorectal cancer susceptibility to 4 included C563365|601228||colorectal cancer susceptibility to on chromosome 15 included C563365|601228||crcs4 included C563365|601228||hmps1 C537899||baker vinters syndrome C537899||hydrocephalus with cerebral aqueductal dysgenesis and craniofacial anomalies C536568||walker dyson syndrome C536568||aniridia associated with mental retardation and other eye abnormalities D054853||malignant atrophic papulosis D054853||atrophic papuloses malignant D054853||atrophic papulosis malignant D054853||degos disease D054853||degos apos s malignant atrophic papulosis D054853||degos syndrome D054853||disease degos D054853||disease kohlmeier degos D054853||erythrokeratoderma en cocardes D054853||kohlmeier degos disease D054853||malignant atrophic papuloses D054853||papuloses malignant atrophic D054853||papulosis malignant atrophic D054853||syndrome degos C537897||phosphoribosylpyrophosphate synthetase deficiency C536566||walbaum titran durieux crepin syndrome C536567||waldmann disease C536567||familial waldmann apos s disease C536567||primary intestinal lymphangiectasis C536567||waldmann apos s disease D054850||osteophyte D054850||bone spur D054850||bone spurs D054850||osteophytes D054850||spur bone D054850||spurs bone C536864|182600||spastic paraplegia 3 autosomal dominant C536864|182600||familial spastic paraplegia autosomal dominant 1 C536864|182600||fsp1 C536864|182600||spg3 C536864|182600|C580455||spg3a C536864|182600||strumpell disease C536595|104310||alzheimer disease type 2 C536595|104310||ad2 C536595|104310||alzheimer disease 2 C536595|104310||alzheimer disease 2 late onset C536595|104310||alzheimer disease associated with apoe4 C536595|104310||alzheimer disease associated with apoe e4 C536595|104310||late onset familial alzheimer disease C565067||ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet C567227|612632||usher syndrome type ih C567227|612632||ush1h C565068||ectodermal dysplasia trichoodontoonychial type C537830||macrosomia with lethal microphthalmia C537830||macrosomia microphthalmia cleft palate C537830||macrosomia with microphthalmia lethal C537830||teebi al saleh hassoon syndrome C565069||orofacial cleft 8 D042882||gallstones D042882||biliary calculi D042882||biliary calculi common bile duct D042882||calculi biliary D042882||common bile duct calculi D042882||common bile duct gallstones D042882||common bile duct gall stones D042882||gallstone D042882||gall stone D042882||gall stones D042882||gallstones common bile duct D042882||gall stones common bile duct D042883||choledocholithiasis D042883||cholelithiasis common bile duct 215500|C535358||choroidal dystrophy central areolar 215500|C535358||cacd 215500|C535358||cacd1 215500|C535358||central areolar choroidal sclerosis 215500|C535358||choroidal dystrophy central areolar 1 215500|C535358||choroidal sclerosis D008169||lung abscess D008169||abscesses lung D008169||abscesses pulmonary D008169||abscess lung D008169||abscess pulmonary D008169||lung abscesses D008169||pulmonary abscess D008169||pulmonary abscesses 612160|C563181||histiocytoma angiomatoid fibrous D010488||polyarteritis nodosa D010488||arteritides necrotizing D010488||arteritis necrotizing D010488||essential polyarteritides D010488||essential polyarteritis D010488||necrotizing arteritides D010488||necrotizing arteritis D010488||periarteritis nodosa D010488||polyarteritides essential D010488||polyarteritis essential D008178||lupus erythematosus cutaneous D008178||cutaneous lupus erythematosus D008178||lupus erythematosus cutaneous subacute D008178||lupus erythematosus subacute cutaneous D008179||lupus erythematosus discoid D008179||discoid lupus erythematosus D008179||lupus erythematosus chronic cutaneous D008179||lupus erythematosus cutaneous chronic C537828||chromosome 8 monosomy 8q C537828||deletion 8q C537828||monosomy 8q C537829||macrophagic myofasciitis C537829||macrophagic myofasciitis childhood D010489||periarthritis D010489||periarthritides D008177||lupus vulgaris D008174||lung diseases parasitic D008174||lung disease parasitic D008174||lung parasitic infection D008174||lung parasitic infections D008174||parasitic infection pulmonary D008174||parasitic infections of lung D008174||parasitic infections pulmonary D008174||parasitic lung disease D008174||parasitic lung diseases D008174||pulmonary parasitic infection D008174||pulmonary parasitic infections C563882|608658||prostate cancer hereditary 4 C563882|608658||hpc4 C563882|608658||prostate cancer hereditary on chromosome 7 D008172||lung diseases fungal D008172||fungal disease pulmonary D008172||fungal diseases pulmonary D008172||fungal infection pulmonary D008172||fungal infections pulmonary D008172||fungal lung disease D008172||fungal lung diseases D008172||lung disease fungal D008172||pulmonary fungal disease D008172||pulmonary fungal diseases D008172||pulmonary fungal infection D008172||pulmonary fungal infections D008173||lung diseases obstructive D008173||lung disease obstructive D008173||obstructive lung disease D008173||obstructive lung diseases D008173||obstructive pulmonary disease D008173||obstructive pulmonary diseases D008173||pulmonary disease obstructive D008173||pulmonary diseases obstructive C537822||chromosome 7 trisomy mosaic C537822||trisomy 7 mosaicism C537822||uniparental disomy of 7 C537823||chromosome 8 deletion C537823||deletions of chromosome 8 D052202||hydrocolpos D008171||lung diseases D008171||disease lung D008171||disease pulmonary D008171||diseases lung D008171||diseases pulmonary D008171||lung disease D008171||pulmonary disease D008171||pulmonary diseases C565076||dysplasia epiphysealis hemimelica with chondromas and osteochondromas C565076||osteochondromatosis dominant carpotarsal C537820||chromosome 7 trisomy 7p13 p12 2 C537820||duplication 7p13 p12 2 C537820||trisomy 7p13 p12 2 D010482||periapical abscess D010482||abscess apical alveolar D010482||abscess apical dentoalveolar D010482||abscesses apical alveolar D010482||abscesses apical dentoalveolar D010482||abscesses periapical D010482||abscess periapical D010482||alveolar abscess apical D010482||alveolar abscesses apical D010482||apical alveolar abscess D010482||apical alveolar abscesses D010482||apical dentoalveolar abscess D010482||apical dentoalveolar abscesses D010482||dentoalveolar abscess apical D010482||dentoalveolar abscesses apical D010482||periapical abscesses D010482||periapical periodontitides suppurative D010482||periapical periodontitis suppurative D010482||periodontitides suppurative periapical D010482||periodontitis apical suppurative D010482||periodontitis suppurative periapical D010482||suppurative periapical periodontitides D010482||suppurative periapical periodontitis C535715|605726||spinal muscular atrophy jerash type C535715|605726||dsma2 C535715|605726||hereditary motor neuropathy jerash type C535715|605726||hmnj C535715|605726||motor neuropathy distal jerash type C535715|605726||neuronopathy distal hereditary motor jerash type C535715|605726||neuropathy distal hereditary motor jerash type C535715|605726||spinal muscular atrophy distal autosomal recessive 2 C565077||diffuse lewy body disease with gaze palsy C537821||chromosome 7 trisomy 7q C537821||duplication 7q C537821||trisomy 7q C565070||cleft lip with or without cleft palate nonsyndromic 8 C537826||chromosome 8p deletion syndrome partial C537826||8p deletion syndrome partial C537826||8p syndrome partial C537826||chromosome 8 monosomy 8p2 C537826||chromosome 8 monosomy 8p21 pter C537826||chromosome 8 partial deletion short arm C537826||chromosome 8 partial monosomy 8p2 D010484||periapical granuloma D010484||dental granuloma D010484||dental granulomas D010484||granuloma dental D010484||granuloma periapical D010484||granulomas dental D010484||granulomas periapical D010484||periapical granulomas D010484||periapical periodontitis chronic nonsuppurative D010484||periodontitis apical chronic nonsuppurative C537827||chromosome 8 monosomy 8p23 1 C537827||deletion 8p23 1 C537827||monosomy 8p23 1 D010483||periapical diseases D010483||disease periapical D010483||diseases periapical D010483||periapical disease C537824||chromosome 8 ring C537824||ring chromosome 8 C537825||chromosome 8 monosomy 8p C537825||deletion 8p C537825||monosomy 8p D010485||periapical periodontitis D010485||acute nonsuppurative periodontitides D010485||acute nonsuppurative periodontitis D010485||apical periodontitides D010485||apical periodontitis D010485||nonsuppurative periodontitides acute D010485||nonsuppurative periodontitis acute D010485||periapical periodontitides D010485||periodontitides acute nonsuppurative D010485||periodontitides apical D010485||periodontitides periapical D010485||periodontitis acute nonsuppurative D010485||periodontitis apical D010485||periodontitis periapical 300604|C564476||premature ovarian failure 2b 300604|C564476||pof2b D005901||glaucoma D005901||glaucomas C565078||lewy body variant of alzheimer disease C537840||mal de debarquement C537840||mal de debarquement syndrome 193510|C536464||waardenburg syndrome type 2a 193510|C536464||waardenburg syndrome type iia 193510|C536464||waardenburg syndrome without dystopia canthorum 193510|C536464||ws2 193510|C536464||ws2a D005902||glaucoma open angle D005902||compensated glaucoma D005902||compensated glaucomas D005902||compensative glaucoma D005902||compensative glaucomas D005902||glaucoma compensated D005902||glaucoma compensative D005902||glaucoma pigmentary D005902||glaucomas compensated D005902||glaucomas compensative D005902||glaucoma simple D005902||glaucoma simplex D005902||glaucomas open angle D005902||glaucomas pigmentary D005902||glaucomas simple D005902||open angle glaucoma D005902||open angle glaucomas D005902||pigmentary glaucoma D005902||pigmentary glaucomas D005902||simple glaucoma D005902||simple glaucomas D005902||simplex glaucoma D005902||simplices glaucoma 611100|C567011||prostate cancer hereditary 10 611100|C567011||hpc10 D003057|133540||cockayne syndrome D003057|133540||cockayne syndrome a D003057|133540||cockayne syndrome b D003057|133540||cockayne syndrome group a D003057|133540||cockayne syndrome group b D003057|133540||cockayne syndrome group c D003057|133540||cockayne syndrome type 3 D003057|133540||cockayne syndrome type a D003057|133540||cockayne syndrome type b D003057|133540||cockayne syndrome type c D003057|133540||cockayne syndrome type i D003057|133540||cockayne syndrome type ii D003057|133540||cockayne syndrome type iii D003057|133540||csa D003057|133540||dwarfism retinal atrophy deafness syndrome D003057|133540||group a cockayne syndrome D003057|133540||group b cockayne syndrome D003057|133540||group c cockayne syndrome D003057|133540||progeria like syndrome D003057|133540||progeria like syndromes D003057|133540||progeroid nanism D003057|133540||syndrome cockayne D003057|133540||syndrome progeria like D003057|133540||type a cockayne syndrome D003057|133540||type b cockayne syndrome D003057|133540||type c cockayne syndrome D003057|133540||type i cockayne syndrome D003057|133540||type ii cockayne syndrome D003057|133540||type iii cockayne syndrome 608096||epilepsy familial temporal lobe 2 608096||etl2 608096||ftle 607346|C537198||spinocerebellar ataxia 19 607346|C537198||sca19 607346|C537198||sca22 607346|C537198|C542540||spinocerebellar ataxia 22 C562806||glycogen storage disease id C562806||gsd1d C565080||dyschondrosteosis and nephritis C536509||theodor hertz goodman syndrome C536509||symphalangism short stature skeletal anomalies and accessory testis D008185||lutembacher syndrome D008185||lutembacher apos s syndrome D008185||lutembachers syndrome D008185||syndrome lutembacher D008185||syndrome lutembacher apos s C565316|605594||deafness autosomal dominant 39 with dentinogenesis imperfecta 1 C565316|605594||dfna39 dentinogenesis imperfecta 1 syndrome C565316|605594||dfna39 dgi1 syndrome C565316|605594||dgi1 dfna39 syndrome C536502||tetrasomy x C536502||48 xxxx C536502||48 xxxx syndrome D008181||lupus nephritis D008181||glomerulonephritides lupus D008181||glomerulonephritis lupus D008181||lupus glomerulonephritides D008181||lupus glomerulonephritis D008181||lupus nephritides D008181||nephritides lupus D008181||nephritis lupus C565086||duodenal ulcer hyperpepsinogenemic i C536503||thakker donnai syndrome C536503||dysmorphic facial features and multiple structural abnormalities C536503||dysmorphism multiple structural anomalies D010490||pericardial effusion D010490||chylopericardium D010490||chylopericardiums D010490||effusion pericardial D010490||effusions pericardial D010490||hemopericardium D010490||pericardial effusions C536500||tetraamelia multiple malformations C536500||zimmer phocomelia C536500||zimmer taub sova syndrome D010493||pericarditis D010493||pleuropericarditis C565088||drusen radial autosomal dominant C536501||tetralogy of fallot and glaucoma C536501||familial tetralogy of fallot and glaucoma C567379|612260||myd88 deficiency C567379|612260||myd88d C567379|612260||pyogenic bacterial infections recurrent due to myd88 deficiency C567379|612260||recurrent pyogenic bacterial infections due to myd88 deficiency D005909||glioblastoma D005909||astrocytoma grade iv D005909||astrocytomas grade iv D005909||giant cell glioblastoma D005909||giant cell glioblastomas D005909||glioblastoma giant cell D005909||glioblastoma multiforme D005909||glioblastomas D005909||glioblastomas giant cell D005909||grade iv astrocytoma D005909||grade iv astrocytomas C537837||benign symmetrical lipomatosis C537837||launois bensaude syndrome C536506||thanatophoric dysplasia glasgow variant C536506||neonatally lethal short limb skeletal dysplasia glasgow type D010495||pericarditis tuberculous D010495||pericarditides tuberculous D010495||tuberculous pericarditides D010495||tuberculous pericarditis C535532|300048||congenital idiopathic intestinal pseudoobstruction C535532|300048||ciip C535532|300048||ciipx C535532|300048||ciip x linked C535532|300048||intestinal pseudoobstruction chronic idiopathic C535532|300048||intestinal pseudoobstruction neuronal chronic idiopathic with central nervous system involvement C535532|300048||intestinal pseudoobstruction neuronal chronic idiopathic with central nervous system involvement congenital short bowel syndrome x linked included C535532|300048||intestinal pseudoobstruction neuronal chronic idiopathic x linked C535532|300048||ipox C537838||madokoro ohdo sonoda syndrome C537838||tetra amelia ectodermal dysplasia and lacrimal duct abnormality D010494||pericarditis constrictive D010494||constrictive pericarditides D010494||constrictive pericarditis D010494||heart pick apos s disease D010494||pericarditides constrictive D010494||pick disease heart D010494||pick disease of heart D010494||picks disease heart D010494||pick apos s disease of heart C565083||dupuytren contracture 1 C536504||thalamic degeneration symmetrical infantile C536504||symmetrical infantile thalamic degeneration C536504||thalamic degeneration symmetric infantile D010497||pericoronitis D010497||pericoronitides C565084||plantar fibromatosis familial C565084||plantar fibromas C537836||macules hereditary congenital hypopigmented and hyperpigmented C537836||congenital hypomelanotic and hypermelanotic macules C537836||hereditary congenital hypopigmented and hyperpigmented macules C537836||westerhof beemer cormane syndrome 203750|C535434||beta ketothiolase deficiency 203750|C535434||2 alpha methyl 3 hydroxybutyricacidemia 203750|C535434||2 methyl 3 hydroxybutyricacidemia 203750|C535434||2 methyl 3 hydroxybutyric acidemia 203750|C535434||3 alpha ketothiolase deficiency 203750|C535434||3 alpha ktd deficiency 203750|C535434||3 alpha oxothiolase deficiency 203750|C535434||3 ketothiolase deficiency 203750|C535434||3 ktd deficiency 203750|C535434||3 methylhydroxybutyric acidemia 203750|C535434||3 oxothiolase deficiency 203750|C535434||alpha methylacetoaceticaciduria 203750|C535434||alpha methylacetoacetic aciduria 203750|C535434||b ketothiolase deficiency 203750|C535434|C562681|250850||mat deficiency 203750|C535434||mitochondrial 2 methylacetoacetyl coa thiolase deficiency potassium stimulated 203750|C535434||mitochondrial acetoacetyl coa thiolase deficiency 203750|C535434||t2 deficiency C565049||epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase 611105|C567009||leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 611105|C567009||lbsl 611105|C567009||mitochondrial aspartyl trna synthetase deficiency C562587|613179||purine nucleoside phosphorylase deficiency C562587|613179||nucleoside phosphorylase deficiency C562587|613179||pnp deficiency C566376||tsukahara syndrome C566376||radioulnar synostosis with microcephaly short stature scoliosis and mental retardation C537851||novak syndrome C537851||cleft larynx posterior C537851||laryngotracheoesophageal cleft pulmonary hypoplasia C566377||microcephaly severe with skeletal anomalies including posterior rib gap defects C537852||nuchal bleb familial C537852||cystic hygroma fetal C537852||familial nuchal bleb C537852||fetal cystic hygroma C566378||osteosclerotic chondrodysplasia lethal with intracellular inclusions C566379||laryngotracheal stenosis progressive with short stature and arthropathy C565101|125850||maturity onset diabetes of the young type 1 C565101|125850||mild juvenile diabetes mellitus C565101|125850||mody1 C565101|125850||mody type 1 C564741|277450||vitamin k dependent clotting factors combined deficiency of 1 C564741|277450||factors ii vii ix and x combined deficiency of C564741|277450||familial multiple coagulation factor deficiency iii C564741|277450||fmfd iii C564741|277450||glutamic acid deficient gamma carboxylation of C564741|277450||mcfd3 C564741|277450||multiple coagulation factor deficiency iii C564741|277450||vitamin k dependent coagulation defect C564741|277450||vkcfd C564741|277450||vkcfd1 C566716|180104||retinitis pigmentosa 9 C566716|180104||rp9 204870|C535480||corneal dystrophy gelatinous drop like 204870|C535480||amyloid corneal dystrophy japanese type 204870|C535480||amyloidosis corneal 204870|C535480||cdgdl 204870|C535480||corneal amyloidosis 204870|C535480||corneal dystrophy lattice type 3 204870|C535480||corneal dystrophy lattice type iii 204870|C535480||gdld 204870|C535480||gelatinous drop like corneal dystrophy 204870|C535480||lattice corneal dystrophy type3 204870|C535480||lattice corneal dystrophy type iii 204870|C535480||primary familial amyloidosis of the cornea C536519||thrombocytopenia chromosome breakage C536519||helmerhorst heaton crossen syndrome C536519|188000||thrombocytopenia 2 C536519||thrombocytopenia autosomal dominant C536519|188000||thrombocytopenia autosomal dominant 2 D010468||perceptual disorders D010468||discrimination disorder somatosensory D010468||discrimination disorders somatosensory D010468||hemisensory neglect D010468||hemisensory neglects D010468||hemispatial neglect D010468||hemispatial neglects D010468||neglect hemisensory D010468||neglect hemispatial D010468||neglect sensory D010468||neglects hemisensory D010468||perceptual disorder D010468||sensory neglect D010468||sensory neglects D010468||somatosensory discrimination disorder D010468||somatosensory discrimination disorders 607091|C535753||congenital disorder of glycosylation type 2d 607091|C535753|C564625||cdg2d 607091|C535753|C564625||cdgiid 607091|C535753|C564625||cdg iid 607091|C535753||congenital disorder of glycosylation type iid D008151||lown ganong levine syndrome D008151||short pr normal qrs complex syndrome D008151||syndrome lown ganong levine C537844||nonseminomatous germ cell tumor C537844||non seminomatous germ cell tumors C536513||thomas jewett raines syndrome C537845||nonsyndromic sensorineural hearing loss C537845||autosomal dominant nonsyndromic hereditary hearing impairment C537845||nonsyndromic hereditary hearing impairment C536514||thomas syndrome C537095|112410||brachydactyly with hypertension C537095|112410||bilginturan syndrome C537095|112410||brachydactyly type e with short stature and hypertension C537095|112410||htnb C537095|112410||hypertension with brachydactyly C536511||schweitzer kemink graham syndrome C536511||conductive hearing loss middle ear ossicular anomalies malformed thickened lop auricles and micrognathia C536511||thickened earlobes with conductive deafness from incus stapes abnormalities C566386||thyroid adenoma hyperfunctioning C566386||thyroid carcinoma with thyrotoxicosis C536512||thiopurine s methyltranferase deficiency C536512||6 alpha mercaptopurine sensitivity C536512||thiopurine methyltransferase deficiency C536517||thoracolaryngopelvic dysplasia C536517||autosomal dominant thoracolaryngopelvic dysplasia C536517||barnes syndrome C566380||osebold skeletal dysplasia osteolysis syndrome C565409|248900||mast syndrome C565409|248900||spastic paraplegia 21 autosomal recessive C565409|248900||spg21 C537846||noonan like syndrome C537846||noonan like multiple giant cell lesion syndrome C537846||noonan syndrome with pigmented villonodular synovitis C536515||thompson baraitser syndrome C565051||epiblepharon of upper lid C565051||epiblepharon of lower lid C564524|300372||mental retardation x linked 42 C564524|300372||mrx42 C536516||thoraco limb dysplasia rivera type C536516||rivera perez salas syndrome C566387||peroxisome biogenesis disorder complementation group 9 C537862||ochronosis hereditary C537862||hereditary ochronosis C536531||orofaciodigital syndrome 6 C536531||ofd6 C536531||ofds vi C536531||oral facial digital syndrome type 6 C536531||oral facial digital syndrome type vi C536531||orofaciodigital syndrome vi C536531||polydactyly cleft lip palate or lingual lump and psychomotor retardation C536531||varadi papp syndrome C536531||varadi syndrome C566388||peroxisome biogenesis disorder complementation group d C536530||van maldergem wetzburger verloes syndrome C536530||cerebro facio articular syndrome C536530||cerebrofacioarticular syndrome C536530||cerebro facio articular syndrome of van maldergem C536530||van maldergem syndrome C537863|300500||ocular albinism type 1 C537863|300500||albinism ocular type i C537863|300500||nettleship falls type ocular albinism C537863|300500||oa1 C567862|612921||three m syndrome 2 C567862|612921||3m2 C567862|612921||3m syndrome 2 113900|D002037||bundle branch block 113900||cardiac conduction defect nonprogressive included 113900||hereditary bundle branch system defect hbbd heart block nonprogressive included 113900||pccd D008158||ludwig apos s angina D008158||angina ludwig apos s D008158||ludwig angina D008158||ludwigs angina C563008|261750||glycogen storage disease ixb C563008|261750||glycogenosis of liver and muscle autosomal recessive C563008|261750||gsd9b C563008|261750||gsd ixb C563008|261750||phosphorylase kinase deficiency of liver and muscle autosomal recessive C567656|610185||cerebellar ataxia mental retardation and dysequilibrium syndrome 2 C567656|610185||camrq2 C567656|610185||cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2 D009497||neurotic disorders D009497||disorder neurotic D009497||disorders neurotic D009497||neuroses D009497||neurotic disorder D009497||psychoneuroses D008166||lumpy skin disease D008166||disease lumpy skin D008166||diseases lumpy skin D008166||lumpy skin diseases D008166||skin disease lumpy D008166||skin diseases lumpy D009494||neurosyphilis D009494||asymptomatic neurosyphilis D009494||central nervous system syphilis D009494||general paralyses D009494||general paralysis D009494||general pareses D009494||general paresis D009494||general paresis of the insane D009494||gummatous neurosyphilis D009494||juvenile neurosyphilis D009494||juvenile pareses D009494||juvenile paresis D009494||neurosyphilis asymptomatic D009494||neurosyphilis gummatous D009494||neurosyphilis juvenile D009494||neurosyphilis paretic D009494||neurosyphilis secondary D009494||neurosyphilis symptomatic D009494||paralyses general D009494||paralysis general D009494||pareses general D009494||pareses juvenile D009494||paresis general D009494||paresis juvenile D009494||paretic neurosyphilis D009494||secondary neurosyphilis D009494||syphilis central nervous system D009494||syphilis cns C537042|300700||albinism deafness syndrome C537042|300700||adfn C537042|300700||alds C565063||edema familial idiopathic prepubertal C536524||valinemia C536524||hypervalinemia C536524||valine transaminase deficiency C565064||ectrodactyly cleft palate syndrome C536525||valproic acid antenatal infection C536525||dalpro fetal effects from C536525||epival fetal effects from C536525||fetal valproate syndrome C536525||fetal valproic syndrome C536525||valproic acid embryopathy D053565||hypercalciuria C565065||ectrodactyly and ectodermal dysplasia without cleft lip palate C536522||vacuolar myopathy C536522||autophagic vacuolar myopathy C536522||myopathy autophagic vacuolar infantile onset C536523||vagina absence of C536523||absence of vagina C566391||erythrokeratodermia variabilis autosomal recessive C565061||eds viib C565061||eds7b C566392||muscular dystrophy congenital with cerebellar atrophy C537857||hereditary vertical nystagmus C537857||congenital hereditary vertical nystagmus C537857||nystagmus hereditary vertical C536526||van bogaert hozay syndrome C536526||acro osteolysis facial dysplasia syndrome C536526||hozay apos s syndrome C565027||complement factor d deficiency C565027||factor d deficiency C566358||xanthinuria type ii C566358||xanthine dehydrogenase and aldehyde oxidase combined deficiency of C565028||facial palsy familial recurrent peripheral C566359||parotitis juvenile recurrent C536167|245150||keutel syndrome C536167|245150||pulmonic stenosis brachytelephalangism and calcification of cartilages C565029||facial hypertrichosis C563463|608836||carnitine palmitoyltransferase ii deficiency lethal neonatal C563463|608836||carnitine palmitoyltransferase ii deficiency antenatal C563463|608836||carnitine palmitoyltransferase ii deficiency neonatal C563463|608836||cpt2 deficiency lethal neonatal C563463|608836||cpt ii deficiency lethal neonatal 608224|C564272||deafness autosomal dominant 41 608224|C564272||dfna41 C565023||factors viii ix and xi combined deficiency of C565023||familial multiple coagulation factor deficiency v C565023||multiple coagulation factor deficiency v C565024||familial multiple coagulation factor deficiency ii C565024||f8f9d C565024||factor viii and factor ix combined deficiency C565024||fmfd ii C565025||familial multiple coagulation factor deficiency iv C565025||factor vii and factor viii combined deficiency C565025||fmfd iv C565025||mcfd4 C565025||multiple coagulation factor deficiency iv C566356||osteoma of cranial vault familial C565026||factor v excess with spontaneous thrombosis C565026||proaccelerin excess C566357||craniosynostosis with ectopia lentis D009459||neuroleptic malignant syndrome D009459||neuroleptic induced neuroleptic malignant syndrome D009459||neuroleptic malignant syndrome neuroleptic induced D009459||neuroleptic malignant syndromes D009459||nms neuroleptic malignant syndrome D009459||nmss neuroleptic malignant syndrome D009459||syndrome neuroleptic malignant D009459||syndromes neuroleptic malignant C566473|610455||tumoral calcinosis normophosphatemic familial C566473|610455||calcinosis tumoral with normophosphatemia C566473|610455||nftc C567211|612650||ciliary dyskinesia primary 12 C567211|612650||cild12 C567211|612650||ciliary dyskinesia primary 12 without situs inversus D009464||neuroma acoustic D009464||acoustic neurilemmoma D009464||acoustic neurilemmomas D009464||acoustic neurilemoma D009464||acoustic neurilemomas D009464||acoustic neurinoma D009464||acoustic neurinomas D009464||acoustic neuroma D009464||acoustic neuroma cerebellopontine angle D009464||acoustic neuromas D009464||acoustic schwannoma D009464||acoustic schwannomas D009464||acoustic tumor D009464||acoustic tumors D009464||angle tumor D009464||cerebellopontine angle acoustic neuroma D009464||cerebellopontine angle tumor D009464||melanocytic vestibular schwannoma D009464||melanocytic vestibular schwannomas D009464||neurilemmoma acoustic D009464||neurilemmomas acoustic D009464||neurilemoma acoustic D009464||neurilemomas acoustic D009464||neurinoma acoustic D009464||neurinoma of the acoustic nerve D009464||neurinomas acoustic D009464||neuroma acoustic unilateral D009464||neuromas acoustic D009464||schwannoma acoustic D009464||schwannoma melanocytic vestibular D009464||schwannomas acoustic D009464||schwannomas melanocytic vestibular D009464||schwannomas vestibular D009464||schwannoma vestibular D009464||tumor acoustic D009464||tumors acoustic D009464||vestibular schwannoma D009464||vestibular schwannoma melanocytic D009464||vestibular schwannomas D009464||vestibular schwannomas melanocytic D009463||neuroma D009463||neuromas D011776||pyuria D011776||pyurias D008133||long qt syndrome 219800|D003554||cystinosis 219800|D003554||ctns 219800|D003554||cystine diatheses 219800|D003554||cystine diathesis 219800|D003554||cystine disease 219800|D003554||cystine diseases 219800|D003554||cystine storage disease 219800|D003554||cystine storage diseases 219800|D003554||cystinoses 219800|D003554||cystinoses nephropathic 219800|D003554||cystinosin defect of 219800|D003554||cystinosin defect of cystinosis infantile nephropathic included 219800|D003554||cystinosis atypical nephropathic included 219800|D003554||cystinosis nephropathic 219800|D003554||diatheses cystine 219800|D003554||diathesis cystine 219800|D003554||disease cystine storage 219800|D003554||diseases cystine storage 219800|D003554||lysosomal cystine transport protein defect of 219800|D003554||nephropathic cystinoses 219800|D003554||nephropathic cystinosis 219800|D003554||storage disease cystine 219800|D003554||storage diseases cystine C562785|146110||idiopathic hypogonadotropic hypogonadism C562785|146110||hh7 C562785|146110|D007006||hypogonadism isolated hypogonadotropic C562785|146110||hypogonadotropic hypogonadism 7 with or without anosmia C562785|146110||ihh D009461||neurologic manifestations D009461||deficit focal neurologic D009461||deficit neurologic D009461||deficits focal neurologic D009461||deficits neurologic D009461||dysfunction neurologic D009461||dysfunctions neurologic D009461||finding neurologic D009461||findings neurologic D009461||focal neurologic deficit D009461||focal neurologic deficits D009461||manifestation neurologic D009461||manifestation neurological D009461||manifestations neurologic D009461||manifestations neurological D009461||neurological manifestation D009461||neurological manifestations D009461||neurologic deficit D009461||neurologic deficit focal D009461||neurologic deficits D009461||neurologic deficits focal D009461||neurologic dysfunction D009461||neurologic dysfunctions D009461||neurologic finding D009461||neurologic findings D009461||neurologic manifestation D009461||neurologic sign D009461||neurologic signs D009461||neurologic signs and symptoms D009461||neurologic symptom D009461||neurologic symptoms D009461||sign neurologic D009461||signs neurologic D009461||symptom neurologic D009461||symptoms neurologic D011778||q fever D011778||acute q fever D011778||acute q fevers D011778||chronic q fever D011778||chronic q fevers D011778||coxiella burnetii fever D011778||coxiella burnetii fevers D011778||coxiella burnetii infection D011778||coxiella burnetii infections D011778||coxiella burnetii vector borne disease D011778||fever acute q D011778||fever chronic q D011778||fever coxiella burnetii D011778||fever q D011778||fever query D011778||fevers acute q D011778||fevers chronic q D011778||fevers coxiella burnetii D011778||fevers q D011778||fevers query D011778||infection coxiella burnetii D011778||infections coxiella burnetii D011778||q fever acute D011778||q fever chronic D011778||q fevers D011778||q fevers acute D011778||q fevers chronic D011778||query fever D011778||query fevers C566991|119540||cleft palate isolated and mental retardation C566991|119540|D002972||cleft palate C566991|119540|D002972||cleft palate isolated C566991|119540||cp C566991|119540||cpi D053570||porcine postweaning multisystemic wasting syndrome D053570||postweaning multisystemic wasting syndrome porcine C566361||microcephaly facial abnormalities micromelia and mental retardation C566362||tracheobronchial stenosis congenital C567769|613076||myopathy mitochondrial progressive with congenital cataract hearing loss and developmental delay C567769|613076||mitochondrial complex deficiency combined C567769|613076||myopathy with cataract and combined respiratory chain deficiency C565032||extrasystoles multiform ventricular with short stature hyperpigmentation and microcephaly C566360||follicular atrophoderma perioral pigmented with milia and epidermoid cysts D053578||opsoclonus myoclonus syndrome D053578||dancing eyes dancing feet syndrome D053578||infants myoclonic encephalopathies D053578||infants myoclonic encephalopathy D053578||kinsbourne syndrome D053578||myoclonic encephalopathy of infants D053578||myoclonus opsoclonus D053578||opsoclonus myoclonus D053578||opsoclonus myoclonus ataxia D053578||paraneoplastic opsoclonus myoclonus ataxia C565039||erythroleukemia familial C565039||di guglielmo disease familial C565039||leukemia acute myelogenous m6 C565034||exostoses with anetodermia and brachydactyly type e C565035||cerebrooculofacioskeletal syndrome 3 C566366|600791||enlarged vestibular aqueduct C566366||deafness autosomal recessive 4 C566366|600791||dilated vestibular aqueduct C566366|600791||neurosensory nonsyndromic recessive deafness 4 C567696||bernard soulier syndrome autosomal dominant C565036||exchondrosis of pinna posterior C565036||ear bump C566367||light fixation seizure syndrome C566367||m syndrome C566368||dyserythropoiesis congenital with internuclear chromatin bridges and ultrastructurally normal erythroblast heterochromatin D009468||neuromuscular diseases D009468||amyotonia congenita D009468||benign fasciculation cramp syndrome D009468||benign fasciculation cramp syndromes D009468||cramp fasciculation syndrome D009468||cramp fasciculation syndromes D009468||fasciculation cramp syndrome benign D009468||fasciculation cramp syndromes benign D009468||foley denny brown syndrome D009468||neuromuscular disease D009468||oppenheim disease D009468||oppenheim apos s disease D009468||oppenheims disease D009468||syndrome cramp fasciculation D009468||syndrome foley denny brown D009468||syndromes cramp fasciculation D008146||louping ill D008146||ill louping D053584||urinoma D053584||urinomas D008141||lordosis 610733|C548082||noonan syndrome 4 610733|C548082||ns4 D009471||neuromyelitis optica D009471||devic disease D009471||devic neuromyelitis optica D009471||devic apos s disease D009471||devics disease D009471||devic apos s neuromyelitis optica D009471||devics neuromyelitis optica D009471||devic apos s neuromyelitis opticas D009471||devic apos s syndrome D009471||devics syndrome D009471||devic apos s syndromes D009471||devic syndrome D009471||disease devic D009471||disease devic apos s D009471||neuromyelitis optica devic apos s D009471||neuromyelitis opticas devic apos s D009471||optica devic apos s neuromyelitis D009471||opticas devic apos s neuromyelitis D009471||syndrome devic D009471||syndrome devic apos s D009471||syndromes devic apos s C565041||erythema palmare hereditarium D052256||tendinopathy D052256||tendinitides D052256||tendinitis D052256||tendinopathies D052256||tendinoses D052256||tendinosis D052256||tendonitides D052256||tendonitis C566092|186200||syndactyly type iv C566092|186200||haas type syndactyly C566092|186200||polysyndactyly haas type C566092|186200||sd4 C566092|186200||sdty4 C566373||hypospadias hypertelorism upper lid coloboma and mixed type hearing loss C565043||arene oxide detoxification defect C566374||oroacral syndrome verloes koulischer type C565044||diphenylhydantoin defect in hydroxylation of C566375||expansile bone lesions C567684|613251||cardiomyopathy familial hypertrophic 14 C567684|613251||cmh14 D011782||quadriplegia D011782||flaccid quadriplegia D011782||flaccid quadriplegias D011782||flaccid tetraplegia D011782||flaccid tetraplegias D011782||locked in syndrome D011782||locked in syndromes D011782||paralysis spinal quadriplegic D011782||quadripareses D011782||quadriparesis D011782||quadriplegia flaccid D011782||quadriplegias D011782||quadriplegias flaccid D011782||quadriplegia spastic D011782||quadriplegias spastic D011782||spastic quadriplegia D011782||spastic quadriplegias D011782||spastic tetraplegia D011782||spastic tetraplegias D011782||syndrome locked in D011782||syndromes locked in D011782||tetraplegia D011782||tetraplegia flaccid D011782||tetraplegias D011782||tetraplegias flaccid D011782||tetraplegia spastic D011782||tetraplegias spastic C566370||muscular dystrophy limb girdle type 1d C566370||lgmd1d D053589||nuchal cord D053589||cord double nuchal D053589||cord entanglements fetal D053589||cord nuchal D053589||double nuchal cord D053589||fetal cord entanglement D053589||fetal cord entanglements D053589||nuchal cord double D053589||nuchal cord quadruple D053589||nuchal cord single D053589||nuchal cord triple D053589||quadruple nuchal cord D053589||single nuchal cord D053589||triple nuchal cord C565005||foveal hypoplasia isolated C565006||foveal hypoplasia with anterior segment anomalies C565007||fourth cranial nerve palsy familial congenital C565007||strabismus from superior oblique palsy C565007||superior oblique oculomotor palsy familial congenital C565007||trochlear nerve palsy familial congenital D064250||hypertriglyceridemic waist D064250||enlarged waist elevated triglycerides D064250||waist hypertriglyceridemic C565008||focal epithelial hyperplasia of the oral mucosa C565001||fragile site 16p12 C566332||microcephaly with simplified gyral pattern C537831|600208||macrothrombocytopenia progressive deafness C537831|600208||brodie chole griffin syndrome C537831|600208||macrothrombocytopenia and progressive sensorineural deafness C567664||omodysplasia 2 C567664||omod2 C567664||omodysplasia autosomal dominant 603860|C548033||medullary cystic kidney disease 2 603860|C548033||admckd2 603860|C548033|C537696||mckd2 603860|C548033||medullary cystic kidney disease 2 autosomal dominant C566334||long qt syndrome 3 6 C567666||fibrosis of extraocular muscles congenital 3c C567666||cfeom3c D008109||liver diseases parasitic D008109||disease parasitic liver D008109||diseases parasitic liver D008109||liver disease parasitic D008109||parasitic liver disease D008109||parasitic liver diseases C563738|609322||rhabdoid tumor predisposition syndrome 1 C563738|609322||at rt included C563738|609322||brain tumor posterior fossa of infancy familial C563738|609322||brain tumor posterior fossa of infancy familial malignant rhabdoid tumor somatic included C563738|609322||malignant rhabdoid tumor somatic C563738|609322||rdt included C563738|609322||rhabdoid tumor included C563738|609322||rtps1 C563738|609322||teratoid tumor atypical included D008107||liver diseases D008107||disease liver D008107||diseases liver D008107||dysfunction liver D008107||dysfunctions liver D008107||liver disease D008107||liver dysfunction D008107||liver dysfunctions D008108||liver diseases alcoholic D008108||alcoholic liver disease D008108||alcoholic liver diseases D008108||liver disease alcoholic C565009||flood factor deficiency D009437||neuralgia D009437||atypical neuralgia D009437||atypical neuralgias D009437||iliohypogastric nerve neuralgia D009437||iliohypogastric nerve neuralgias D009437||ilioinguinal neuralgia D009437||ilioinguinal neuralgias D009437||nerve neuralgia iliohypogastric D009437||nerve neuralgias iliohypogastric D009437||nerve pain D009437||nerve pain paroxysmal D009437||nerve pains D009437||nerve pains paroxysmal D009437||neuralgia atypical D009437||neuralgia iliohypogastric nerve D009437||neuralgia ilioinguinal D009437||neuralgia perineal D009437||neuralgias D009437||neuralgias atypical D009437||neuralgias iliohypogastric nerve D009437||neuralgias ilioinguinal D009437||neuralgias perineal D009437||neuralgias stump D009437||neuralgias supraorbital D009437||neuralgia stump D009437||neuralgia supraorbital D009437||neuralgias vidian D009437||neuralgia vidian D009437||neurodynia D009437||neurodynias D009437||neuropathic pain D009437||neuropathic pains D009437||pain nerve D009437||pain neuropathic D009437||pain paroxysmal nerve D009437||pains nerve D009437||pains neuropathic D009437||pains paroxysmal nerve D009437||paroxysmal nerve pain D009437||paroxysmal nerve pains D009437||perineal neuralgia D009437||perineal neuralgias D009437||stump neuralgia D009437||stump neuralgias D009437||supraorbital neuralgia D009437||supraorbital neuralgias D009437||vidian neuralgia D009437||vidian neuralgias D008106||liver cirrhosis experimental D008106||cirrhoses experimental liver D008106||cirrhosis experimental liver D008106||experimental hepatic cirrhosis D008106||experimental liver cirrhoses D008106||experimental liver cirrhosis D008106||hepatic cirrhosis experimental D008106||liver cirrhoses experimental D008103||liver cirrhosis D008103||cirrhoses hepatic D008103||cirrhoses liver D008103||cirrhosis hepatic D008103||cirrhosis liver D008103||fibroses liver D008103||fibrosis liver D008103||hepatic cirrhoses D008103||hepatic cirrhosis D008103||liver cirrhoses D008103||liver fibroses D008103||liver fibrosis 106210|C536372||aniridia type 2 106210|C536372|606788|D000856||an 106210|C536372|D015783||aniridia 106210|C536372||aniridia ii formerly an2 formerly cataract congenital with late onset corneal dystrophy included D008104||liver cirrhosis alcoholic D008104||alcoholic cirrhosis D008104||alcoholic hepatic cirrhosis D008104||alcoholic liver cirrhosis D008104||hepatic cirrhosis alcoholic 300448|C563023||alpha thalassemia myelodysplasia syndrome 300448|C563023||atmds 300448|C563023||hemoglobin h disease acquired C537808||chromosome 6 monosomy 6q1 C537808||deletion 6q1 C537808||monosomy 6q1 D009444||neuritis autoimmune experimental D009444||allergic neuritis experimental D009444||autoimmune neuritis experimental D009444||autoimmune neuropathies experimental D009444||autoimmune neuropathy experimental D009444||ean experimental allergic neuritis D009444||ean experimental autoimmune neuritis D009444||experimental allergic neuritis D009444||experimental autoimmune neuritis D009444||experimental autoimmune neuropathies D009444||experimental autoimmune neuropathy D009444||neuritis experimental allergic D009444||neuritis experimental autoimmune D009444||neuropathies experimental autoimmune D009444||neuropathy experimental autoimmune D053591||pain referred D053591||facial pain referred D053591||referred facial pain D053591||referred pain C537809||chromosome 6 monosomy 6q2 C537809||deletion 6q2 C537809||monosomy 6q2 D009443||neuritis D009443||motor neuritides D009443||motor neuritis D009443||neuritides D009443||neuritides motor D009443||neuritides peripheral D009443||neuritides sensory D009443||neuritis motor D009443||neuritis peripheral D009443||neuritis sensory D009443||peripheral neuritides D009443||peripheral neuritis D009443||polyneuritides D009443||polyneuritis D009443||sensory neuritides D009443||sensory neuritis D008113||liver neoplasms D008113||cancer hepatic D008113|114550|D006528||cancer hepatocellular D008113||cancer liver D008113||cancer of liver D008113||cancer of the liver D008113||cancers hepatic D008113||cancers hepatocellular D008113||cancers liver D008113||hepatic cancer D008113||hepatic cancers D008113||hepatic neoplasm D008113||hepatic neoplasms D008113||hepatocellular cancer D008113||hepatocellular cancers D008113|114550|D006528||liver cancer D008113||liver cancers D008113||liver neoplasm D008113||neoplasm hepatic D008113||neoplasm liver D008113||neoplasms hepatic D008113||neoplasms liver D009442||neurilemmoma D009442||malignant neurilemmoma D009442||malignant neurilemmomas D009442||malignant neurilemoma D009442||malignant neurilemomas D009442||malignant peripheral nerve sheath tumors D009442||malignant schwannoma D009442||malignant schwannomas D009442||mpnst D009442||mpnsts D009442||neurilemmoma malignant D009442||neurilemmomas D009442||neurilemmomas malignant D009442||neurilemmosarcoma D009442||neurilemmosarcomas D009442||neurilemoma D009442||neurilemoma malignant D009442||neurilemomas D009442||neurilemomas malignant D009442||neurinoma D009442||neurinomas D009442||peripheral nerve sheath tumors malignant D009442||plexiform schwannomatoses D009442||plexiform schwannomatosis D009442||schwannoma D009442||schwannoma malignant D009442||schwannomas D009442||schwannomas malignant D009442||schwannomatoses plexiform D009442||schwannomatosis plexiform C537807||chromosome 6 monosomy 6q C537807||deletion 6q C537807||monosomy 6q D009440||neurasthenia D009440||neurasthenic neuroses D009440||neuroses neurasthenic 248310||plasmodium falciparum blood infection level 248310||pfbi 248310||plasmodium falciparum parasitemia 142946|C564180||holoprosencephaly 4 142946|C564180||hpe4 262890|C563120||scott syndrome 262890|C563120||bdplt7 262890|C563120||bleeding abnormality due to deficiency of platelet binding of factor x 262890|C563120||bleeding disorder platelet type 7 262890|C563120||prothrombin consumption deficiency 262890|C563120||prothrombin consumption inhibitor familial 262890|C563120||prothrombin conversion defect familial 262890|C563120||scts C566340||bile acid synthesis defect congenital 3 C566340||congenital bile acid synthesis defect type 3 cbas3 C565010||fingerprints absence of C565011||fibula recurrent dislocation of head of C537804||chromosome 10q duplication syndrome C537804||10q duplication syndrome C537804||10q partial trisomy C537804||partial trisomy 10q C537804||trisomy 10q C537803||ghose sachdev kumar syndrome C566347||eccrine syringofibroadenomatosis with eyelid abnormalities C565017||fibrinolytic defect C565018||dysfibrinogenemia causing recurrent thrombosis C566345||acromelic frontonasal dysostosis C566346||blue nevi familial multiple 262000|C537633||bjornstad syndrome 262000|C537633||bjs 262000|C537633||deafness and pili torti bjornstad type 262000|C537633||pili torti and nerve deafness 262000|C537633||pili torti sensorineural hearing loss 262000|C537633||ptd D008118||loiasis D008118||loaiases D008118||loaiasis D008118||loiases D009449||asthenia neurocirculatory D009449||asthenias neurocirculatory D009449||cardiac neuroses D009449||cardiac neurosis D009449||effort syndrome D009449||heart syndrome hyperkinetic D009449||hyperkinetic heart syndrome D009449||neurocirculatory asthenias D009449||neuroses cardiac D009449||neurosis cardiac D009449||syndrome effort D009449||syndrome hyperkinetic heart 269700|D052497||lipodystrophy congenital generalized 269700|D052497||agpat2 related brunzell syndrome 269700|D052497||berardinelli seip congenital lipodystrophy 269700|D052497||berardinelli seip congenital lipodystrophy type 1 269700|D052497||berardinelli seip congenital lipodystrophy type 2 269700|D052497||berardinelli seip syndrome 269700|D052497||berardinelli syndrome 269700|D052497||brunzell syndrome 269700|D052497||brunzell syndrome agpat2 related 269700|D052497||brunzell syndrome bscl2 related 269700|D052497||brunzell syndrome with bone cysts 269700|D052497||bscl1 269700|D052497||bscl2 related brunzell syndrome 269700|D052497||cgl1 269700|D052497||cgl2 269700|D052497||congenital generalized lipodystrophies 269700|D052497||congenital generalized lipodystrophy 269700|D052497||congenital generalized lipodystrophy type 1 269700|D052497||congenital generalized lipodystrophy type 2 269700|D052497||congenital lipoatrophic diabete 269700|D052497||congenital lipoatrophic diabetes 269700|D052497||congenital lipodystrophy berardinelli seip 269700|D052497||diabete congenital lipoatrophic 269700|D052497||diabetes congenital lipoatrophic 269700|D052497||generalized lipodystrophies 269700|D052497||generalized lipodystrophies congenital 269700|D052497||generalized lipodystrophy 269700|D052497||generalized lipodystrophy congenital 269700|D052497||lipoatrophic diabete congenital 269700|D052497||lipoatrophic diabetes congenital 269700|D052497||lipodystrophies congenital generalized 269700|D052497||lipodystrophies generalized 269700|D052497||lipodystrophies total 269700|D052497||lipodystrophy berardinelli seip congenital 269700|D052497||lipodystrophy berardinelli seip congenital type 1 269700|D052497||lipodystrophy berardinelli seip congenital type 2 269700|D052497||lipodystrophy congenital generalized type 1 269700|D052497||lipodystrophy congenital generalized type 2 269700|D052497||lipodystrophy generalized 269700|D052497||lipodystrophy total 269700|D052497||lipodystrophy total and acromegaloid gigantism 269700|D052497||seip syndrome 269700|D052497||syndrome agpat2 related brunzell 269700|D052497||syndrome berardinelli 269700|D052497||syndrome berardinelli seip 269700|D052497||syndrome brunzell 269700|D052497||syndrome brunzell with bone cysts 269700|D052497||syndrome bscl2 related brunzell 269700|D052497||syndrome seip 269700|D052497||total lipodystrophies 269700|D052497||total lipodystrophy 269700|D052497||total lipodystrophy and acromegaloid gigantism D008114||liver neoplasms experimental D008114||experimental hepatoma D008114||experimental hepatomas D008114||experimental liver neoplasm D008114||experimental liver neoplasms D008114||hepatoma experimental D008114||hepatoma morris D008114||hepatoma novikoff D008114||hepatomas experimental D008114||liver neoplasm experimental D008114||morris hepatoma D008114||neoplasms experimental liver D008114||novikoff hepatoma C537819||chromosome 7 trisomy 7p C537819||duplication 7p C537819||trisomy 7p D009455||neurofibroma D009455||neurofibromas 608035||melanoma cutaneous malignant susceptibility to 4 608035||cmm4 C537817||chromosome 7 monosomy 7q3 C537817||deletion 7q3 C537817||monosomy 7q3 C537818||7p2 monosomy syndrome C537818||chromosome 7 monosomy 7p2 C537818||chromosome 7 partial deletion of short arm 7p2 C537818||chromosome 7 partial monosomy 7p C537818||chromosome 7 terminal 7p deletion del 7p21 p22 D010437||peptic ulcer D010437||gastroduodenal ulcer D010437||gastroduodenal ulcers D010437||marginal ulcer D010437||marginal ulcers D010437||peptic ulcers D010437||ulcer gastroduodenal D010437||ulcer marginal D010437||ulcer peptic D010437||ulcers gastroduodenal D010437||ulcers marginal D010437||ulcers peptic D009450||neurodermatitis D009450||circumscribed neurodermatitides D009450||circumscribed neurodermatitis D009450||lichen simplex chronicus D009450||localized neurodermatitides D009450||localized neurodermatitis D009450||neurodermatitides D009450||neurodermatitides circumscribed D009450||neurodermatitides localized D009450||neurodermatitis circumscribed D009450||neurodermatitis localized 251110|C537361||methylmalonic aciduria cblb type 251110|C537361||methylmalonic acidemia cblb type 251110|C537361||methylmalonic aciduria vitamin b12 responsive due to defect in synthesis of adenosylcobalamin cblb type D010439||peptic ulcer perforation D010439||peptic ulcer perforations D010439||perforation peptic ulcer D010439||perforations peptic ulcer D010439||ulcer perforation peptic D010439||ulcer perforations peptic 608033||encephalopathy acute infection induced susceptibility to 3 608033||ane 608033||encephalopathy acute necrotizing susceptibility to 608033||iiae3 D010438||peptic ulcer hemorrhage D010438||hemorrhage peptic ulcer D010438||peptic ulcer hemorrhages D010438||ulcer hemorrhage peptic C537811||chromosome 6 trisomy 6p C537811||duplication 6p C537811||trisomy 6p C567682||tsc2 angiomyolipomas renal modifier of C562771|274900||thyroid dyshormonogenesis 5 C562771|274900||hypothyroidism congenital due to dyshormonogenesis 5 C562771|274900||tdh5 C562771|274900||thyroid hormonogenesis genetic defect in 5 C565020||iron overload autosomal dominant C566351||atrial septal defect secundum with various cardiac and noncardiac defects C537812||chromosome 6 trisomy 6q C537812||duplication 6q C537812||trisomy 6q C566352||neuroendocrine carcinoma of salivary glands sensorineural hearing loss and enamel hypoplasia C565022||familial multiple coagulation factor deficiency vi C565022||factor ix and factor xi combined deficiency C565022||fmfd vi C565022||mcfd6 C565022||multiple coagulation factor deficiency vi C537810||6q syndrome partial C537810||chromosome 6 partial trisomy 6q C537810||chromosome 6 trisomy 6q2 C537810||distal duplication 6q C537810||trisomy 6q partial C537810||trisomy 6q syndrome partial 253200|D009087||mucopolysaccharidosis vi 253200|D009087||arsb deficiencies 253200|D009087||arsb deficiency 253200|D009087||arylsulfatase b deficiencies 253200|D009087||arylsulfatase b deficiency 253200|D009087||deficiencies arsb 253200|D009087||deficiencies arylsulfatase b 253200|D009087||deficiencies n acetylgalactosamine 4 sulfatase 253200|D009087||deficiency arsb 253200|D009087||deficiency arylsulfatase b 253200|D009087||deficiency n acetylgalactosamine 4 sulfatase 253200|D009087||dwarfism polydystrophic 253200|D009087||maroteaux lamy syndrome 253200|D009087||mps6 253200|D009087||mps vi 253200|D009087||mucopolysaccharidosis 6 253200|D009087||mucopolysaccharidosis type 6 253200|D009087||mucopolysaccharidosis type vi 253200|D009087||n acetylgalactosamine 4 sulfatase deficiencies 253200|D009087||n acetylgalactosamine 4 sulfatase deficiency 253200|D009087||polydystrophic dwarfism 253200|D009087||syndrome maroteaux lamy 253200|D009087||type 6 mucopolysaccharidosis 253200|D009087||type vi mucopolysaccharidosis C537815||chromosome 7 monosomy 7q2 C537815||deletion 7q2 C537815||monosomy 7q2 C537816||chromosome 7 monosomy 7q21 C537816||deletion 7q21 C537816||monosomy 7q21 C567125|611721||combined saposin deficiency C567125|611721||combined sap deficiency C567125|611721||prosaposin deficiency C567125|611721||psapd C537813||chromosome 7 ring syndrome C537813||ring chromosome 7 C537813||ring chromosome 7 syndrome C537814||chromosome 7 monosomy C537814||monosomy 7 C567461|300770||surfactant metabolism dysfunction pulmonary 4 C567461|300770||csf2ra deficiency C567461|300770||pap due to csf2ra deficiency C567461|300770||pulmonary alveolar proteinosis congenital 4 C567461|300770||smdp4 D004831|607208||epilepsies myoclonic D004831|607208||absence epilepsies myoclonic D004831|607208||absence epilepsy myoclonic D004831|607208||astatic epilepsies myoclonic D004831|607208||astatic epilepsy myoclonic D004831|607208||benign infantile myoclonic epilepsy D004831|607208||cryptogenic myoclonic epilepsies D004831|607208||cryptogenic myoclonic epilepsy D004831|607208||disorder myoclonic seizure D004831|607208||disorders myoclonic seizure D004831|607208||dravet syndrome D004831|607208||dravet syndromes D004831|607208||early childhood epilepsy myoclonic D004831|607208||early childhood myoclonic epilepsy D004831|607208||eiee6 D004831|607208||encephalopathies myoclonic D004831|607208||encephalopathy myoclonic D004831|607208||epilepsies cryptogenic myoclonic D004831|607208||epilepsies idiopathic myoclonic D004831|607208||epilepsies infantile myoclonic D004831|607208||epilepsies myoclonic absence D004831|607208||epilepsies myoclonic astatic D004831|607208||epilepsies symptomatic myoclonic D004831|607208||epilepsy cryptogenic myoclonic D004831|607208||epilepsy early childhood myoclonic D004831|607208||epilepsy idiopathic myoclonic D004831|607208||epilepsy infantile myoclonic D004831|607208||epilepsy myoclonic D004831|607208||epilepsy myoclonic absence D004831|607208||epilepsy myoclonic astatic D004831|607208||epilepsy myoclonic early childhood D004831|607208||epilepsy myoclonic infantile D004831|607208||epilepsy myoclonic infantile benign D004831|607208||epilepsy myoclonic infantile severe D004831|607208||epilepsy myoclonus D004831|607208||epilepsy symptomatic myoclonic D004831|607208||epileptic encephalopathy early infantile 6 D004831|607208||idiopathic myoclonic epilepsies D004831|607208||idiopathic myoclonic epilepsy D004831|607208||infantile myoclonic epilepsies D004831|607208||infantile myoclonic epilepsy D004831|607208||infantile severe myoclonic epilepsy D004831|607208||myoclonic absence epilepsies D004831|607208||myoclonic absence epilepsy D004831|607208||myoclonic astatic epilepsies D004831|607208||myoclonic astatic epilepsy D004831|607208||myoclonic encephalopathies D004831|607208||myoclonic encephalopathy D004831|607208||myoclonic epilepsies D004831|607208||myoclonic epilepsies cryptogenic D004831|607208||myoclonic epilepsies idiopathic D004831|607208||myoclonic epilepsies infantile D004831|607208||myoclonic epilepsies symptomatic D004831|607208||myoclonic epilepsy D004831|607208||myoclonic epilepsy benign infantile D004831|607208||myoclonic epilepsy cryptogenic D004831|607208||myoclonic epilepsy early childhood D004831|607208||myoclonic epilepsy idiopathic D004831|607208||myoclonic epilepsy infantile D004831|607208||myoclonic epilepsy infantile benign D004831|607208||myoclonic epilepsy infantile severe D004831|607208||myoclonic epilepsy severe infantile D004831|607208||myoclonic epilepsy severe of infancy D004831|607208||myoclonic epilepsy symptomatic D004831|607208||myoclonic seizure disorder D004831|607208||myoclonic seizure disorders D004831|607208||myoclonus epilepsies D004831|607208||myoclonus epilepsy D004831|607208||seizure disorder myoclonic D004831|607208||seizure disorders myoclonic D004831|607208||severe infantile myoclonic epilepsy D004831|607208||severe myoclonic epilepsy infantile D004831|607208||severe myoclonic epilepsy of infancy D004831|607208||smei D004831|607208||symptomatic myoclonic epilepsies D004831|607208||symptomatic myoclonic epilepsy D004831|607208||syndrome dravet D004831|607208||syndromes dravet C566677||speech development delayed with facial asymmetry strabismus and transverse earlobe crease C564014||renal tubulopathy diabetes mellitus and cerebellar ataxia due to duplication of mitochondrial dna C566678||elliptocytosis 3 C566679||spastic paraplegia optic atrophy and dementia C564012||wolfram syndrome mitochondrial form C564012||diabetes insipidus and mellitus with optic atrophy and deafness mitochondrial form C564012||didmoad syndrome mitochondrial form C565349||mesomelic dysplasia savarirayan type C565349||mesomelic dysplasia with absent fibulas and triangular tibias C564011||pancreatic hypoplasia congenital with diabetes mellitus and congenital heart disease C566673|C566672|182980||spinal muscular atrophy late onset finkel type C566673|C566672|182980||finkel late adult type sma C564018||myoglobinuria recurrent C566674||spinal muscular atrophy facioscapulohumeral type C566674||fshsma C537832|153840||macular dystrophy atypical vitelliform C537832|153840||vitelliform macular dystrophy atypical C537832|153840||vmd1 C564017||myopathy mitochondrial lethal infantile C566675||neuronopathy distal hereditary motor type i C566675||charcot marie tooth disease spinal i C566675||neuropathy distal hereditary motor type i C566675||spinal muscular atrophy distal juvenile autosomal dominant i C564016||nephropathy chronic tubulointerstitial C564015||parkinson disease mitochondrial C579990||childhood myocerebrohepatopathy spectrum C579991||chmp2b related frontotemporal dementia C579991||chromosome 3 linked frontotemporal dementia C579991||dtm1 C579991||ftd 3 C579991||ftd chmp2b 142340|C538080||congenital diaphragmatic hernia 142340|C538080||agenesis of hemidiaphragm 142340|C538080|142700||cdh 142340|C538080||congenital diaphragmatic defect 142340|C538080||diaphragmatic defect congenital 142340|C538080||diaphragmatic hernia congenital 142340|C538080||diaphragm complete agenesis of included 142340|C538080||diaphragm unilateral agenesis of 142340|C538080||dih 142340|C538080||dih1 included 142340|C538080||hcd 142340|C538080||hemidiaphragm agenesis of 142340|C538080||hemidiaphragm agenesis of diaphragmatic hernia 1 included 142340|C538080||hernia congenital diaphragmatic 142340|C538080||unilateral agenesis of diaphragm D008206||lymphatic diseases D008206||disease lymphatic D008206||diseases lymphatic D008206||lymphadenopathy D008206||lymphatic disease D008206||lymphatism D008206||status lymphaticus C536295|608629||joubert syndrome 3 C536295|608629||jbts3 C564019||diarrhea chronic with villous atrophy D008207||lymphatic metastasis D008207||lymphatic metastases D008207||metastases lymphatic D008207||metastasis lymphatic D008204||lymphangiosarcoma D008204||lymphangioendothelioma malignant D008204||lymphangioendotheliomas malignant D008204||lymphangiosarcomas D008204||malignant lymphangioendothelioma D008204||malignant lymphangioendotheliomas D008205||lymphangitis D008205||lymphangitides C537500|271930||striatonigral degeneration infantile C537500|271930||bilateral striatal necrosis infantile C537500|271930||ibsn C537500|271930||infantile bilateral striatal necrosis C537500|271930||sndi C537500|271930||striatal degeneration familial D008202||lymphangioma D008202||cavernous lymphangioma D008202||cavernous lymphangiomas D008202||endothelioma lymphatic D008202||endotheliomas lymphatic D008202||lymphangioendothelioma D008202||lymphangioendotheliomas D008202||lymphangioma cavernous D008202||lymphangiomas D008202||lymphangiomas cavernous D008202||lymphatic endothelioma D008202||lymphatic endotheliomas D008203||lymphangiomyoma D008203||lymphangioleiomyoma D008203||lymphangioleiomyomas D008203||lymphangiomyomas D009542||niemann pick diseases D009542||niemann pick disease D010523||peripheral nervous system diseases D010523||nerve disease peripheral D010523||nerve diseases peripheral D010523||neuropathy peripheral D010523||peripheral nerve disease D010523||peripheral nerve diseases D010523||peripheral nervous system disease D010523||peripheral nervous system disorders D010523||peripheral neuropathies D010523||peripheral neuropathy D010523||pns disease D010523||pns diseases D010523||pns peripheral nervous system diseases D010522||periostitis D010522||periostitides D008210||lymphocele D008210||cyst lymphatic D008210||cysts lymphatic D008210||lymphatic cyst D008210||lymphatic cysts D008210||lymphoceles D008210||lymphocoele D008210||lymphocoeles D011855||radiodermatitis D011855||dermatitides radiation induced D011855||dermatitides radiation recall D011855||dermatitis radiation induced D011855||dermatitis radiation recall D011855||radiation induced dermatitides D011855||radiation induced dermatitis D011855||radiation recall dermatitides D011855||radiation recall dermatitis D011855||radiation recall reaction D011855||radiation recall reactions D011855||radiodermatitides D011855||reaction radiation recall D011855||reactions radiation recall D011855||recall reaction radiation D011855||recall reactions radiation D010524||peripheral nervous system neoplasms D010524||neoplasm peripheral nerve D010524||neoplasms peripheral nerve D010524||nerve neoplasm peripheral D010524||nerve neoplasms peripheral D010524||nerve tumor peripheral D010524||nerve tumors peripheral D010524||peripheral nerve neoplasm D010524||peripheral nerve neoplasms D010524||peripheral nerve neoplasms benign D010524||peripheral nerve neoplasms malignant D010524||peripheral nerve neoplastic infiltration D010524||peripheral nerve tumor D010524||peripheral nerve tumors D010524||peripheral nervous system benign neoplasms D010524||peripheral nervous system malignant neoplasms D010524||tumor peripheral nerve D010524||tumors peripheral nerve C564694|606593||lig4 syndrome C566681||spastic paraplegia with associated extrapyramidal signs C566682||spastic paraplegia sensorineural deafness mental retardation and progressive nephropathy C564021||leigh syndrome due to mitochondrial complex i deficiency C564021||atpase deficiency nuclear encoded C564020||ataxia and polyneuropathy adult onset 231680|D054069||multiple acyl coenzyme a dehydrogenase deficiency 231680|D054069||aciduria ethylmalonic adipic 231680|D054069||acidurias ethylmalonic adipic 231680|D054069||electron transfer flavoprotein alpha subunit deficiency 231680|D054069||electron transfer flavoprotein beta subunit deficiency 231680|D054069||electron transfer flavoprotein deficiency 231680|D054069||electron transfer flavoprotein dehydrogenase deficiency 231680|D054069||etfa deficiencies 231680|D054069||etfa deficiency 231680|D054069||etfa deficiency included 231680|D054069||etfb deficiencies 231680|D054069||etfb deficiency 231680|D054069||etfb deficiency included 231680|D054069||etfdh deficiencies 231680|D054069||etfdh deficiency 231680|D054069||etfdh deficiency included 231680|D054069||ethylmalonic adipicaciduria 231680|D054069||ethylmalonic adipic aciduria 231680|D054069||ethylmalonic adipicaciduria ema glutaric acidemia iia included 231680|D054069||ethylmalonic adipic acidurias 231680|D054069||ga ii 231680|D054069||glutaric acidemia ii 231680|D054069||glutaric acidemia iib included 231680|D054069||glutaric acidemia iic included 231680|D054069||glutaric acidemia type 2 231680|D054069||glutaric acidemia type ii 231680|D054069||glutaric aciduria ii 231680|D054069||glutaric aciduria iia 231680|D054069||glutaric aciduria iib 231680|D054069||glutaric aciduria iic 231680|D054069||glutaric aciduria type 2 231680|D054069||glutaric aciduria type ii 231680|D054069||madd 231680|D054069||madd multiple acyl coa dehydrogenase deficiency 231680|D054069||madds multiple acyl coa dehydrogenase deficiency 231680|D054069||multiple acyl coa dehydrogenase deficiency 231680|D054069||multiple fad dehydrogenase deficiency C564025||striatonigral degeneration infantile mitochondrial C564025||bilateral striatal necrosis infantile mitochondrial C564025||infantile bilateral striatal necrosis mitochondrial C565358||growth deficiency and mental retardation with facial dysmorphism C564024||hypomagnesemia hypertension and hypercholesterolemia mitochondrial C539067||amoebic dysentery due to entamoeba histolytica 154700|D008382||marfan syndrome 154700|D008382||marfan apos s syndrome 154700|D008382||marfans syndrome 154700|D008382||marfan syndrome type i 154700|D008382||mfs 154700|D008382||mfs1 154700|D008382||syndrome marfan 154700|D008382||syndrome marfan apos s C564023||cyclic vomiting syndrome plus C564023||cvs plus C564022||cyclic vomiting syndrome with neuromuscular disease 131300|D003966||camurati engelmann syndrome 131300|D003966||caend 131300|D003966||camurati engelmann disease 131300|D003966||ced 131300|D003966|C538411||diaphyseal dysplasia 1 progressive 131300|D003966||diaphyseal dysplasia progressive 131300|D003966||diaphyseal dysplasias progressive 131300|D003966||diaphyseal hyperostosis 131300|D003966||dpd1 131300|D003966||dysplasia progressive diaphyseal 131300|D003966||dysplasias progressive diaphyseal 131300|D003966||engelmann disease 131300|D003966||engelmann apos s disease 131300|D003966||pdd 131300|D003966||progressive diaphyseal dysplasia D064386||ankle fractures D064386||ankle fracture D064386||ankle fracture bimalleolar D064386||ankle fractures bimalleolar D064386||ankle fractures trimalleolar D064386||ankle fracture trimalleolar D064386||bimalleolar ankle fracture D064386||bimalleolar ankle fractures D064386||bimalleolar equivalent ankle fractures D064386||bimalleolar equivalent fracture D064386||bimalleolar equivalent fractures D064386||bimalleolar fracture D064386||bimalleolar fractures D064386||equivalent fracture bimalleolar D064386||equivalent fractures bimalleolar D064386||fracture ankle D064386||fracture bimalleolar D064386||fracture bimalleolar ankle D064386||fracture bimalleolar equivalent D064386||fracture lateral malleolus D064386||fracture medial malleolus D064386||fracture posterior malleolus D064386||fractures ankle D064386||fractures bimalleolar D064386||fractures bimalleolar ankle D064386||fractures bimalleolar equivalent D064386||fractures lateral malleolus D064386||fractures medial malleolus D064386||fractures posterior malleolus D064386||fractures trimalleolar D064386||fractures trimalleolar ankle D064386||fracture trimalleolar D064386||fracture trimalleolar ankle D064386||lateral malleolus fracture D064386||lateral malleolus fractures D064386||malleolus fracture lateral D064386||malleolus fracture medial D064386||malleolus fracture posterior D064386||malleolus fractures lateral D064386||malleolus fractures medial D064386||malleolus fractures posterior D064386||medial malleolus fracture D064386||medial malleolus fractures D064386||posterior malleolus fracture D064386||posterior malleolus fractures D064386||trimalleolar ankle fracture D064386||trimalleolar ankle fractures D064386||trimalleolar fracture D064386||trimalleolar fractures C566687||skeletal dysplasia with delayed epiphyseal and carpal bone ossification C564026||mitochondrial myopathy with diabetes C564026||mitochondrial myopathy lipid type D008219||lymphogranuloma venereum D008219||lymphogranuloma inguinale D008218||lymphocytosis D008218||lymphocytoses D008216||lymphocytic choriomeningitis D008216||armstrong apos s syndrome D008216||armstrong syndrome D008216||choriomeningitis lymphocytic D008216||encephalomyelitis lymphocytic choriomeningitis virus D008216||lymphocytic choriomeningitis virus encephalomyelitis D008216||syndrome armstrong D008216||syndrome armstrong apos s D010532||peritoneal diseases D010532||peritoneal disease D008223||lymphoma D008223||germinoblastic sarcoma D008223||germinoblastic sarcomas D008223||germinoblastoma D008223||germinoblastomas D008223||lymphoma malignant D008223||lymphomas D008223||lymphomas malignant D008223||malignant lymphoma D008223||malignant lymphomas D008223||reticulolymphosarcoma D008223||reticulolymphosarcomas D008223||sarcoma germinoblastic D008223||sarcomas germinoblastic D010534||peritoneal neoplasms D010534||neoplasm peritoneal D010534||neoplasms peritoneal D010534||peritoneal neoplasm D010538||peritonitis D010538||peritonitis primary D010538||peritonitis secondary D010538||primary peritonitis D010538||secondary peritonitis C566692||sclerocornea autosomal dominant C565361||muscular dystrophy adult onset with leukoencephalopathy C564032||sertoli cell only syndrome type ii C566996|600919||cardiac arrhythmia ankyrin b related C566996|600919||ankyrin b syndrome C566996|600919||ankyrin b syndrome long qt syndrome 4 included C566996|600919||lqt4 included 115430|D002349||carpal tunnel syndrome 115430|D002349||amyotrophy thenar of carpal origin 115430|D002349||carpal tunnel syndromes 115430|D002349||compression neuropathy carpal tunnel 115430|D002349||cts 115430|D002349||cts1 115430|D002349||entrapment neuropathy carpal tunnel 115430|D002349||median neuropathy carpal tunnel 115430|D002349||syndrome carpal tunnel 115430|D002349||syndromes carpal tunnel C566690||sinus node disease and myopia C566690||sick sinus syndrome and myopia C566690||sss myopia syndrome C566655||steinfeld syndrome C566658||spondyloepiphyseal dysplasia tarda autosomal dominant C565327||leber congenital amaurosis 6 C566651||iris pigment epithelium anomalies C566651||cysts of iris pigment epithelium C566651||ruffles and cysts of iris pigment epithelium C566652||spastic paraplegia and evans syndrome C566654||leukoencephalopathy with dystonia and motor neuropathy scpx deficient D010509||periodontal cyst D010509||cyst dental root D010509||cyst dentoalveolar D010509||cyst lateral D010509||cyst periodontal D010509||cysts dental root D010509||cysts dentoalveolar D010509||cysts lateral D010509||cysts periodontal D010509||dental root cyst D010509||dental root cysts D010509||dentoalveolar cyst D010509||dentoalveolar cysts D010509||lateral cyst D010509||lateral cysts D010509||periodontal cysts D010509||root cyst dental D010509||root cysts dental D010508||periodontal abscess D010508||abscesses periodontal D010508||abscess periodontal D010508||periodontal abscesses C566659||spondyloepiphyseal dysplasia myopia and sensorineural deafness C567231|612627||convulsions benign familial infantile 4 C567231|612627||bfic4 C567231|612627||bfis4 C567231|612627||seizures benign familial infantile 4 C563666|610768||congenital disorder of glycosylation type im C563666|610768||cdg1m C563666|610768||cdgim C563666|610768||cdg im C563666|610768||dk1 deficiency C563666|610768||dolichol kinase deficiency C537179|311510||parkinsonism early onset with mental retardation C537179|311510||basal ganglia disorder with mental retardation C537179|311510||basal ganglion disorder with mental retardation C537179|311510||bgmr C537179|311510||laxova brown hogan syndrome C537179|311510||waisman syndrome C537179|311510||wsn C537179|311510||x linked recessive basal ganglia disorder with mental retardation D009521||newcastle disease D009521||disease newcastle D011832||radiation injuries D011832||injuries radiation D011832||injury radiation D011832||radiation injury D011832||radiation sickness D011832||radiation sicknesses D011832||radiation syndrome D011832||radiation syndromes D011832||sicknesses radiation D011832||sickness radiation D011832||syndrome radiation D011832||syndromes radiation D010501||perinephritis D010501||inflammation perinephrium D010501||inflammations perinephrium D010501||perinephritides D010501||perinephrium inflammation C566459|609647||deafness autosomal recessive 46 C566459|609647||dfnb46 D011833||radiation injuries experimental D011833||experimental radiation injuries D011833||experimental radiation injury D011833||injuries experimental radiation D011833||radiation injury experimental C567326|612381||inflammatory bowel disease 23 C567326|612381||ibd23 248360|C535702||malonic aciduria 248360|C535702||malonicaciduria 248360|C535702||malonyl coa decarboxylase deficiency 248360|C535702||malonyl coenzyme a decarboxylase deficiency C566660||spondyloepiphyseal dysplasia with punctate corneal dystrophy C579969||cap myopathy C579969||cap disease C579969||congenital myopathy with caps C566666||splenomegaly syndrome with splenic germinal center hypoplasia and reduced circulating t helper cells C564003||spondyloepiphyseal dysplasia tarda with characteristic facies C566668||spinocerebellar atrophy with pupillary paralysis C566669||spinocerebellar ataxia with rigidity and peripheral neuropathy C564000||retinitis pigmentosa with paraarteriolar preservation of retinal pigment epithelium C564000||retinitis pigmentosa prpe type C564000||rp with preserved paraarteriole retinal pigment epithelium C566662||split hand with obstructive uropathy spina bifida and diaphragmatic defects C565331||fibromatosis gingival with hypertrichosis and mental retardation C566665||split hand and split foot with hypodontia D010518||periodontitis D010518||pericementitides D010518||pericementitis D010518||periodontitides C564009||bladder exstrophy and epispadias complex C536807||chromosome 3 monosomy 3p25 C536807||deletion 3p25 C536807||monosomy 3p25 C567523|312600||retinitis pigmentosa 2 C567523|312600||rp2 D010510||periodontal diseases D010510||disease periodontal D010510||diseases periodontal D010510||parodontoses D010510||parodontosis D010510||periodontal disease D010510||pyorrhea alveolaris D008200||lymphangiectasis D008200||lymphangiectases C536808||chromosome 3 monosomy 3q13 C536808||deletion 3q13 C536808||monosomy 3q13 D008201||lymphangiectasis intestinal D008201||intestinal lymphangiectases D008201||intestinal lymphangiectasis D008201||lymphangiectases intestinal D008201||lymphangiectasia intestinal C536805||chromosome 3 monosomy 3p14 p11 C536805||deletion 3p14 p11 C536805||monosomy 3p14 p11 D011843||radiculopathy D011843||avulsion nerve root D011843||avulsions nerve root D011843||cervical radiculopathies D011843||cervical radiculopathy D011843||compression nerve root D011843||compressions nerve root D011843||inflammation nerve root D011843||nerve root avulsion D011843||nerve root avulsions D011843||nerve root compression D011843||nerve root compressions D011843||nerve root disorder D011843||nerve root disorders D011843||nerve root inflammation D011843||nerve root inflammations D011843||radiculitides D011843||radiculitis D011843||radiculopathies D011843||radiculopathies cervical D011843||radiculopathy cervical C579978||catsper1 related nonsyndromic male infertility C579978||catsper1 related male infertility C579978||catsper related nonsyndromic male infertility C536806||chromosome 3 monosomy 3p2 C536806||chromosome 3 deletion of distal 3p C536806||chromosome 3 distal 3p monosomy C536806||chromosome 3 distal deletion C536806||monosomy 3p2 D011842||radicular cyst D011842||apical periodontal cyst D011842||apical periodontal cysts D011842||cyst apical periodontal D011842||cyst periapical D011842||cyst radicular D011842||cysts apical periodontal D011842||cysts periapical D011842||cysts radicular D011842||periapical cyst D011842||periapical cysts D011842||periodontal cyst apical D011842||periodontal cysts apical D011842||radicular cysts D010514||periodontal pocket D010514||periodontal pockets D010514||pocket periodontal D010514||pockets periodontal C536809||chromosome 3 monosomy 3q21 23 C536809||deletion 3q21 23 C536809||monosomy 3q21 23 C566670||spinal muscular atrophy segmental C536800||chromosome 22 trisomy q11 q13 C536800||duplication 22q11 q13 C536800||trisomy 22q11 q13 C566671||spinocerebellar ataxia and plaque like deposits C565340||frontoocular syndrome C536803||chromosome 3 duplication syndrome C536804||chromosome 3 monosomy 3p C536804||chromosome 3 deletion 3p C536804||deletion 3p C536804||monosomy 3p C563401|601042||choreoathetosis spasticity episodic C563401|601042||choreoathetosis kinesigenic with episodic ataxia and spasticity C563401|601042||choreoathetosis paroxysmal with episodic ataxia C563401|601042||cse choreoathetosis paroxysmal with episodic ataxia C563401|601042||dystonia 9 C563401|601042||dyt9 C566633||peroxisome biogenesis disorder complementation group 3 C566634||peroxisome biogenesis disorder complementation group 11 C566635||peroxisome biogenesis disorder complementation group r D014091||tooth resorption D014091||resorptions tooth D014091||resorption tooth D014091||tooth resorptions C565304||multiple mitochondrial dysfunctions syndrome D038062||upper extremity deformities congenital D038062||upper limb deformities congenital C566636||pten hamartoma tumor syndrome with granular cell tumor D038061||lower extremity deformities congenital D038061||lower limb deformities congenital D014097||tooth unerupted D014097||teeth unerupted D014097||unerupted teeth D014097||unerupted tooth D014096||tooth supernumerary D014096||fourth molar D014096||fourth molars D014096||molar fourth D014096||molars fourth D014096||supernumerary teeth D014096||supernumerary tooth D014096||teeth supernumerary 208500|C537571||jeune syndrome 208500|C537571||asphyxiating thoracic chondrodystrophy 208500|C537571||asphyxiating thoracic dysplasia 208500|C537571||asphyxiating thoracic dystrophy 208500|C537571||asphyxiating thoracic dystrophy 1 208500|C537571||asphyxiating thoracic dystrophy atd 208500|C537571||atd1 208500|C537571||chondroectodermal dysplasia like syndrome 208500|C537571||infantile thoracic dystrophy 208500|C537571||jeune apos s syndrome 208500|C537571||jeune thoracic dysplasia 208500|C537571||jeune thoracic dystrophy 208500|C537571||short rib thoracic dysplasia 1 with or without polydactyly 208500|C537571||srtd1 208500|C537571||thoracic asphyxiant dystrophy 208500|C537571||thoracic pelvic phalangeal dystrophy D014095||tooth impacted D014095||impacted teeth D014095||impacted tooth D014095||teeth impacted C566244|611493||atrial fibrillation familial 4 C566244|611493||atfb4 C566632||preaxial hallucal polydactyly 611073|C567022||alzheimer disease 12 611073|C567022||ad12 611073|C567022||alzheimer disease familial 12 C538225|100300||adams oliver syndrome C538225|100300||absence defect of limbs scalp and skull C538225|100300||adams oliver syndrome 1 C538225|100300||aos C538225|100300||aos1 C538225|100300||aplasia cutis congenita with terminal transverse limb defects C538225|100300||aplasia cutis congenita with terminal transverse limb defects aplasia cutis congenita congenital heart defect and frontonasal cysts included C538225|100300||aplasia cutis of the scalp C538225|100300||congenital defect of skull and scalp C538225|100300||congenital scalp defects with distal limb reduction anomalies C538225|100300||familial aplasia cutis congenita of the scalp C538225|100300||scalp and head syndrome C538225|100300||scalp defect congenital C538225|100300||scalp defects with ectrodactyly D011818||rabies D011818||hydrophobia D011818||lyssa D011818||lyssas D060825||mild cognitive impairment D060825||cognitive impairment mild D060825||cognitive impairments mild D060825||impairment mild cognitive D060825||impairments mild cognitive D060825||mild cognitive impairments C565306||cutis verticis gyrata retinitis pigmentosa and sensorineural deafness C566638||superior transverse scapular ligament calcification of familial C565308||cerebellar ataxia and hypergonadotropic hypogonadism D004613|225500||ellis van creveld syndrome D004613|225500||chondroectodermal dysplasia D004613|225500||chondroectodermal dysplasias D004613|225500||creveld dysplasia ellis van D004613|225500||dysplasia chondroectodermal D004613|225500||dysplasia ellis van creveld D004613|225500||dysplasias chondroectodermal D004613|225500||ellis van creveld dysplasia D004613|225500||evc D004613|225500|C538472||mesoectodermal dysplasia D004613|225500||syndrome ellis van creveld 605751|C565296||seizures benign familial infantile 2 605751||bfic2 605751||bfis2 605751|C565296||convulsions benign familial infantile 2 C566644||spondyloepimetaphyseal dysplasia with abnormal dentition C566644||semdad C565313||cerebrooculonasal syndrome C565314||tetralogy of fallot syndrome autosomal recessive C566640||platelet activating factor acetylhydrolase deficiency C566641||glaucoma 1 open angle c C566643||ichthyosis congenital with trichothiodystrophy C566643||trichothiodystrophy with congenital ichthyosis D009508||nevus pigmented D009508||melanocytic nevi D009508||melanocytic nevus D009508||nevi melanocytic D009508||nevi pigmented D009508||nevus melanocytic D009508|162900|C562736||pigmented moles D009508||pigmented nevi D009508||pigmented nevus D009507||nevus of ota D009507||nevus ota apos s D009507||ota nevus D009507||ota apos s nevus D009507||otas nevus D009506||nevus D009506||mole skin D009506||moles skin D009506||nevi D009506||skin mole D009506||skin moles C565208|610260||pyloric stenosis infantile hypertrophic 2 C565208|610260||ihps2 C537134|311200||orofaciodigital syndrome type1 C537134|311200||ofd1 C537134|311200||ofds i C537134|311200||oral facial digital syndrome type 1 C537134|311200|D009958||oral facial digital syndrome type i C537134|311200|D009958||orofaciodigital syndrome i C537134|311200|D009958||papillon leage and psaume syndrome C537134|311200||papillon league psaume syndrome C566648||spina bifida folate sensitive D009503||neutropenia D009503||neutropenias D047868||pulmonary sclerosing hemangioma D047868||hemangioma sclerosing pulmonary D047868||lung sclerosing hemangioma D047868||lung sclerosing hemangiomas D047868||pulmonary sclerosing hemangiomas D047868||sclerosing hemangioma lung D047868||sclerosing hemangioma of the lung D047868||sclerosing hemangioma pulmonary D047868||sclerosing hemangiomas lung D047868||sclerosing hemangiomas pulmonary D060831||hand foot syndrome D060831||acral erythema chemotherapy induced D060831||acral erythemas chemotherapy induced D060831||chemotherapy induced acral erythema D060831||chemotherapy induced acral erythemas D060831||chemotherapy induced palmoplantar erythrodysesthesia D060831||chemotherapy induced palmoplantar erythrodysesthesias D060831||hand foot syndromes D060831||palmoplantar erythrodysesthesia chemotherapy induced D060831||palmoplantar erythrodysesthesias chemotherapy induced D060831||syndrome hand foot D060831||syndromes hand foot 114450|C566179||cancer familial with in vitro radioresistance C565784|604377||cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency C565784|604377||cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency 1 C565784|604377||cemcox1 C565784|604377||cytochrome c oxidase deficiency fatal infantile with cardioencephalomyopathy 303100|D015794||choroideremia 303100|D015794||choroideremias 303100|D015794||dystrophies progressive tapetochoroidal 303100|D015794||dystrophy progressive tapetochoroidal 303100|D015794||progressive tapetochoroidal dystrophies 303100|D015794||progressive tapetochoroidal dystrophy 303100|D015794||tapetochoroidal dystrophies progressive 303100|D015794||tapetochoroidal dystrophy progressive 303100|D015794||tapetochoroidal dystrophy progressive tcd choroidal sclerosis included C562844|212067||congenital disorder of glycosylation type i iix C562844|212067||cdg x C562805|232240||glycogen storage disease ic C562805|232240||gsd1c glycogen storage disease id included C562805|232240||gsd1d included C566650||glaucoma iridogoniodysplasia familial D014098||toothache D014098||odontalgia D014098||odontalgias D014098||toothaches D014071||tooth abnormalities D014071||abnormalities teeth D014071||abnormalities tooth D014071||abnormality teeth D014071||abnormality tooth D014071||odontome D014071||odontomes D014071||teeth abnormalities D014071||teeth abnormality D014071||tooth abnormality C566613|D056735||autoimmune lymphoproliferative syndrome type ia C566613||alps1a C566614||autoimmune lymphoproliferative syndrome type ib C566614||alps1b D014075||tooth discoloration D014075||discolorations tooth D014075||discoloration tooth D014075||tooth discolorations C566870|211900||tumoral calcinosis hyperphosphatemic familial C566870|211900||calcinosis tumoral with hyperphosphatemia C566870|211900|C538381||cortical hyperostosis with hyperphosphatemia C566870|211900||hftc C566870|211900|C538381||hyperostosis hyperphosphatemia syndrome C566870|211900|C538381||hyperostosis with hyperphosphatemia C566870|211900||hyperphosphatemia hyperostosis C566870|211900||hyperphosphatemia hyperostosis syndrome C566870|211900||hyperphosphatemia tumoral calcinosis C566870|211900||hyperphosphatemic familial tumoral calcinosis C566870|211900||lipocalcinogranulomatosis C566870|211900||morbus teutschlaender C566870|211900||phptc C566870|211900||primary hyperphosphatemic tumoral calcinosis C566870|211900||teutschlaender disease familial C566870|211900||tumoral calcinosis primary hyperphosphatemic C566610||left right axis malformations D014072||tooth abrasion D014072||abrasion dental D014072||abrasion tooth D014072||dental abrasion C566615||autoimmune lymphoproliferative syndrome type i autosomal recessive D060845||obsessive hoarding D060845||hoarding D060845||hoarding obsessive D060845||hoardings D060845||hoardings obsessive D060845||obsessive hoardings D046548||pubic symphysis diastasis D046548||diastases pubic symphysis D046548||diastases symphysis pubis D046548||diastasis pubic symphysis D046548||diastasis symphysis pubis D046548||pubic symphysis diastases D046548||symphysis pubis diastases D046548||symphysis pubis diastasis C579922||ataxia neuropathy spectrum C579922||miras C579922||mitochondrial recessive ataxia syndrome C579922|607459|C537583||sando C579922||sensory ataxia neuropathy dysarthria and ophthalmoplegia D002095||byssinosis D002095||brown lung D002095||brown lung disease D002095||brown lung diseases D002095||brown lungs D002095||byssinoses 609057|C563798||nephropathy with pretibial epidermolysis bullosa and deafness D058529||single umbilical artery D058529||single umbilical arteries D058529||two vessel cord D058529||two vessel cords D058529||umbilical artery single D014067||tonsillar neoplasms D014067||cancer of the tonsil D014067||cancer of tonsil D014067||cancers tonsil D014067||cancers tonsillar D014067||cancer tonsil D014067||cancer tonsillar D014067||neoplasms tonsil D014067||neoplasms tonsillar D014067||neoplasm tonsil D014067||neoplasm tonsillar D014067||tonsil cancer D014067||tonsil cancers D014067||tonsillar cancer D014067||tonsillar cancers D014067||tonsillar neoplasm D014067||tonsil neoplasm D014067||tonsil neoplasms D006011|232500||glycogen storage disease type iv D006011|232500||amylopectinoses D006011|232500||amylopectinosis D006011|232500||andersen disease D006011|232500||andersen apos s disease D006011|232500||andersens disease D006011|232500||brancher deficiencies D006011|232500||brancher deficiency D006011|232500||cirrhosis familial with deposition of abnormal glycogen gsd iv classic hepatic included D006011|232500||deficiencies brancher D006011|232500||deficiencies gbe1 D006011|232500||deficiency brancher D006011|232500||deficiency gbe1 D006011|232500||disease andersen D006011|232500||disease andersen apos s D006011|232500||gbe1 deficiencies D006011|232500||gbe1 deficiency D006011|232500||glycogen branching enzyme deficiency D006011|232500||glycogenoses type iv D006011|232500||glycogenosis 4 D006011|232500||glycogenosis 4s D006011|232500||glycogenosis iv D006011|232500||glycogenosis ivs D006011|232500||glycogenosis type iv D006011|232500||glycogen storage disease iv D006011|232500||glycogen storage disease type 4 D006011|232500||gsd4 D006011|232500||gsd iv D006011|232500||gsd iv neuromuscular form adult with isolated myopathy included D006011|232500||gsd iv neuromuscular form childhood included D006011|232500||gsd iv neuromuscular form congenital included D006011|232500||gsd iv neuromuscular form fatal perinatal included D006011|232500||gsd iv nonprogressive hepatic included D006011|232500||type iv glycogenoses D006011|232500||type iv glycogenosis D005879|137580||tourette syndrome D005879|137580||chronic motor and vocal tic disorder D005879|137580||combined multiple motor and vocal tic disorder D005879|137580||combined vocal and multiple motor tic disorder D005879|137580||gilles de la tourette apos s disease D005879|137580||gilles de la tourette apos s syndrome D005879|137580||gilles de la tourette syndrome D005879|137580||gts D005879|137580||multiple motor and vocal tic disorder combined D005879|137580||syndrome tourette apos s D005879|137580||tic disorder combined vocal and multiple motor D005879|137580||tourette disease D005879|137580||tourette disorder D005879|137580||tourette disorder chronic motor tics included D005879|137580||tourette apos s disease D005879|137580||tourettes disease D005879|137580||tourette apos s disorder D005879|137580||tourettes disorder D005879|137580||tourette apos s syndrome D005879|137580||tourettes syndrome D058527||enteropathy associated t cell lymphoma D058527||enteropathy associated t cell lymphomas D058527||lymphomas enteropathy associated t cell D058527||lymphoma t cell enteropathy associated D058527||t cell lymphoma enteropathy associated D058527||t cell lymphomas enteropathy associated D014069||tonsillitis D014069||tonsillitides C579928||atelosteogenesis type 3 C579928|108721||aoiii C579928|108721||atelosteogenesis type iii C566622||spondylospinal thoracic dysostosis D014082||tooth fractures D014082||fractures tooth D014082||fracture tooth D014082||tooth fracture C566623||coloboma obesity hypogenitalism mental retardation syndrome C565176|609140||corneal dystrophy posterior polymorphous 2 C565176|609140||ppcd2 C566624||peroxisome biogenesis disorder complementation group k C566625||peroxisome biogenesis disorder complementation group 13 D014086||tooth mobility D014086||mobilities tooth D014086||mobility tooth D014086||tooth mobilities D014085||tooth migration D014085||migration tooth D014085||tooth drift D014085||tooth drifting D014084||tooth avulsion D014084||avulsed tooth D014084||avulsions tooth D014084||avulsion tooth D014084||dislocations tooth D014084||dislocation tooth D014084||luxations tooth D014084||luxation tooth D014084||tooth avulsed D014084||tooth avulsions D014084||tooth dislocation D014084||tooth dislocations D014084||tooth luxation D014084||tooth luxations C566621||premature aging syndrome okamoto type C563692|609887||glaucoma 1 open angle g C563692|609887||glc1g 207410||antley bixler syndrome without genital anomalies or disordered steroidogenesis 207410||abs2 C566626||peroxisome biogenesis disorder complementation group h C567441|600101||deafness autosomal dominant 2a C567441|600101||dfna2a C567477|300704||prostate cancer hereditary x linked 2 C567477|300704||hpcx2 C579932||autosomal dominant nocturnal frontal lobe epilepsy C579932||adnfle D058531||46 xx testicular disorders of sex development D058531||46 xx gonadal sex reversal D058531||46 xx testicular disorder of sex development D058531||46 xx testicular dsd D058531||gonadal sex reversal 46 xx D058531||reversals xx sex D058531||reversal xx sex D058531||sex reversal gonadal 46 xx D058531||sex reversals xx D058531||sex reversal xx D058531||syndromes xx male D058531||syndrome xx male D058531||xx male syndrome D058531||xx male syndromes D058531||xx sex reversal D058531||xx sex reversals C579934||autosomal recessive cerebellar ataxia type 1 C579934||arca1 C579934||autosomal recessive spinocerebellar ataxia 8 C579934||recessive ataxia of beauce D058533||sex chromosome disorders of sex development D058533||chromosome dsd sex D058533||chromosome dsds sex D058533||dsd sex chromosome D058533||dsds sex chromosome D058533||sex chromosome dsd D058533||sex chromosome dsds C579935||autosomal recessive primary microcephaly C579935||microcephaly primary hereditary C579935||primary autosomal recessive microcephaly C579935||true microcephaly D014079||tooth eruption ectopic D014079||ectopic tooth eruption D014079||ectopic tooth eruptions D014079||eruption ectopic tooth D014079||eruptions ectopic tooth D014079||tooth eruptions ectopic C563481|166780||otofaciocervical syndrome C563481|166780|C566121|119530||ofc C563481|166780|C566121|119530||ofc1 C563481|166780||ofc syndrome C563481|166780||otofaciocervical syndrome 1 D014077||tooth erosion D014077||erosions tooth D014077||erosion tooth D014077||tooth erosions D014076||tooth diseases D014076||diseases tooth D014076||disease tooth D014076||tooth disease D058536||pyelectasis D058536||fetal pyelectases D058536||fetal pyelectasis D058536||prenatal fetal pyelectases D058536||prenatal fetal pyelectasis D058536||pyelectases D058536||pyelectases fetal D058536||pyelectasis fetal D058535||echogenic bowel D058535||echogenic bowels D058535||hyperechogenic bowel D058535||hyperechogenic bowels C536453|122880||craniofacial deafness hand syndrome C536453|122880||cdhs C564257|608323||charcot marie tooth disease dominant intermediate c C564257|608323||charcot marie tooth neuropathy dominant intermediate c C564257|608323||cmtdic C564257|608323||di cmtc 602668|C538009||dystrophia myotonica 2 602668|C538009||dm2 602668|C538009||myotonic dystrophy 2 602668|C538009||promm 602668|C538009||ricker syndrome 607821|C564331||deafness autosomal recessive 37 607821|C564331||dfnb37 D003397||craniopharyngioma D003397||adamantinous craniopharyngioma D003397||adamantinous craniopharyngiomas D003397||adult craniopharyngioma D003397||adult craniopharyngiomas D003397||child craniopharyngioma D003397||child craniopharyngiomas D003397||craniopharyngioma adamantinous D003397||craniopharyngioma adult D003397||craniopharyngioma child D003397||craniopharyngioma papillary D003397||craniopharyngiomas D003397||craniopharyngiomas adamantinous D003397||craniopharyngiomas adult D003397||craniopharyngiomas child D003397||craniopharyngiomas papillary D003397||neoplasm rathke cleft D003397||neoplasm rathke apos s cleft D003397||neoplasm rathkes cleft D003397||papillary craniopharyngioma D003397||papillary craniopharyngiomas D003397||rathke cleft neoplasm D003397||rathke pouch tumor D003397||rathke apos s cleft neoplasm D003397||rathkes cleft neoplasm D003397||rathke apos s pouch tumor D003397||rathkes pouch tumor D003397||tumor rathke pouch D003397||tumor rathke apos s pouch C566627|601780||ceroid lipofuscinosis neuronal 6 C566627|601780||ceroid lipofuscinosis neuronal 6 variable age at onset C566627|601780||ceroid lipofuscinosis neuronal 6 variable age at onset neuronal ceroid lipofuscinosis late infantile variant included C566627|601780||cln6 C566627|601780||neuronal ceroid lipofuscinosis late infantile variant C566627|601780||vlincl included D058545||inhalant abuse D058545||abuse glue D058545||abuse inhalant D058545||abuses glue D058545||abuses inhalant D058545||glue abuse D058545||glue abuses D058545||glue sniffing D058545||glue sniffings D058545||inhalant abuses C537847|609942||noonan syndrome 3 C537847|609942||ns3 D057215||body dysmorphic disorders D057215||body dysmorphic disorder D057215||body image disfunction D057215||body image disfunctions D057215||body image disorder D057215||body image disorders D057215||disfunction body image D057215||disfunctions body image D057215||disorder body dysmorphic D057215||disorders body dysmorphic D057215||disorders body image D057215||dysmorphic disorder body D057215||dysmorphic disorders body D057215||image disfunction body D057215||image disfunctions body D057215||image disorders body C537994|607684||charcot marie tooth disease type 2e C537994|607684||charcot marie tooth disease axonal type 2e C537994|607684||charcot marie tooth neuropathy type 2e C537994|607684||cmt2e C537994|607684||cmt 2e C538203|609952||deafness autosomal recessive 55 C538203|609952||dfnb55 D014060||tongue diseases D014060||diseases tongue D014060||disease tongue D014060||microglossia D014060||microglossias D014060||tongue disease C567703|613217||diarrhea 5 with tufting enteropathy congenital C567703|613217||cte C567703|613217||diar5 C567703|613217||enteropathy congenital tufting C567703|613217||intestinal epithelial cell dysplasia D007619|244400||kartagener syndrome D007619|244400||bronchiectasis polynesian D007619|244400||cild1 D007619|244400||ciliary dyskinesia primary D007619|244400||ciliary dyskinesia primary 1 D007619|244400||ciliary dyskinesia primary 1 with or without situs inversus D007619|244400||dextrocardia bronchiectasis and sinusitis D007619|244400||dextrocardia bronchiectasis and sinusitis included D007619|244400||dyskinesia primary ciliary D007619|244400||ics D007619|244400|D002925||immotile cilia syndrome D007619|244400||kartagener apos s syndrome D007619|244400||kartageners syndrome D007619|244400||kartagener apos s triad D007619|244400||kartageners triad D007619|244400||kartagener triad D007619|244400||pcd D007619|244400||polynesian bronchiectases D007619|244400||polynesian bronchiectasis D007619|244400||polynesian bronchiectasis kartagener syndrome included D007619|244400||primary ciliary dyskinesia D007619|244400||siewert syndrome D007619|244400||siewert syndrome included D007619|244400||syndrome kartagener D007619|244400||syndrome kartagener apos s D007619|244400||syndrome siewert D014064||tongue hairy D014064||hairy tongue D014064||hairy tongues D014064||tongues hairy D014063||tongue fissured D014063||fissured tongue D014063||fissured tongues D014063||furrowed tongue D014063||furrowed tongues D014063||lingua plicata D014063||scrotal tongue D014063||tongue furrowed D014063||tongues fissured D014063||tongues furrowed D014062||tongue neoplasms D014062||cancer of the tongue D014062||cancer of tongue D014062||cancers tongue D014062||cancer tongue D014062||neoplasms tongue D014062||neoplasm tongue D014062||tongue cancer D014062||tongue cancers D014062||tongue neoplasm C566604||deafness congenital heart defects and posterior embryotoxon C564674|606708||split hand foot malformation 5 C564674|606708||shfm5 C567418|612099||trichoepithelioma multiple familial 2 C567418|612099||mft2 D059885||kasabach merritt syndrome D059885||hemangioma thrombocytopenia syndrome D059885||hemangioma thrombocytopenia syndromes D059885||kasabach merritt phenomenon D059885||phenomenon kasabach merritt D059885||syndrome hemangioma thrombocytopenia D059885||syndrome kasabach merritt D059885||syndromes hemangioma thrombocytopenia D059885||syndromes thrombocytopenia hemangioma D059885||syndrome thrombocytopenia hemangioma D059885||thrombocytopenia hemangioma syndrome D059885||thrombocytopenia hemangioma syndromes C563702|609541||spastic paraplegia optic atrophy and neuropathy C563702|609541||spoan C566601|613855||episodic ataxia type 5 C566601|613855||ea5 D058631|265800||pycnodysostosis D058631|265800||pknd D058631|265800||pycd D058631|265800||pycnodysostoses D058631|265800||pyknodysostoses D058631|265800||pyknodysostosis C537088|112500||brachydactyly type a1 C537088|112500||bda1 C537088|112500||brachydactyly farabee type C537088|112500||farabee type brachydactyly C536053|300373||osteopathia striata cranial sclerosis C536053|300373||hyperostosis generalisata with striations C536053|300373||oscs C536053|300373||osteopathia striata with cranial sclerosis D015362||child nutrition disorders D015362||child malnutrition D015362||child nutrition disorder D015362||child overnutrition D015362||malnutrition child D015362||malnutrition in children D015362||nutrition disorder child D015362||nutrition disorders child D015362||overnutrition child C536681|600118||warburg sjo fledelius syndrome C536681|600118||micro syndrome C536681|600118||warbm1 C536681|600118||warburg micro syndrome C536681|600118||warburg micro syndrome 1 C538349|256030||nemaline myopathy 2 C538349|256030||nem2 C538349|256030||nemaline myopathy caused by mutation in the nebulin gene C535374|125595||dermatopathia pigmentosa reticularis C535374|125595||dpr D053840|601144||brugada syndrome D053840|601144||brgda1 D053840|601144||brugada ecg pattern D053840|601144||brugada syndrome 1 D053840|601144||brugada type ecg pattern D053840|601144||ecg pattern brugada D053840|601144||right bundle branch block st segment elevation and sudden death syndrome D053840|601144||sudden unexplained death syndrome D053840|601144||sudden unexplained nocturnal death syndrome D053840|601144||sudden unexplained nocturnal death syndrome sunds D053840|601144||sudden unexplained nocturnal death syndrome sunds cardiac conduction defect nonspecific included D002044||bunyaviridae infections D002044||bunyaviridae infection D002044||bunyavirus infection D002044||bunyavirus infections D002044||infections bunyaviridae D002044||infections bunyavirus D058565||cerebral ventriculitis D058565||cerebral ventriculitides D058565||infectious ventriculitides D058565||infectious ventriculitis D058565||ventriculitides cerebral D058565||ventriculitides infectious D058565||ventriculitis cerebral D058565||ventriculitis infectious D014029||tobacco use disorder D014029||dependence nicotine D014029||dependence tobacco D014029||disorder nicotine use D014029||disorder tobacco use D014029||nicotine dependence D014029||nicotine use disorder D014029||nicotine use disorders D014029||tobacco dependence D014029||tobacco dependences D014029||tobacco use disorders D014029||use disorder nicotine D058566||sacroiliitis D058566||pyogenic sacroiliitides D058566||pyogenic sacroiliitis D058566||sacroiliitides D058566||sacroiliitides pyogenic D058566||sacroiliitides septic D058566||sacroiliitis pyogenic D058566||sacroiliitis septic D058566||septic sacroiliitides D058566||septic sacroiliitis 141500|C536890||migraine familial hemiplegic 1 141500||fhm 141500||fhm1 141500||mhp1 migraine familial hemiplegic 1 with progressive cerebellar ataxia included 141500||migraine sporadic hemiplegic included D015355||glaucoma neovascular D015355||glaucomas neovascular D015355||neovascular glaucoma D015355||neovascular glaucomas D015354||vision low D015354||diminished vision D015354||low vision D015354||reduced vision D015354||subnormal vision D015354||vision diminished D015354||vision reduced D015354||vision subnormal D015352||dry eye syndromes D015352||dry eye syndrome D015352||syndrome dry eye D015352||syndromes dry eye D013920|187950||thrombocythemia essential D013920|187950||autosomal dominant thrombocytoses D013920|187950||autosomal dominant thrombocytosis D013920|187950||dominant thrombocytoses autosomal D013920|187950||dominant thrombocytosis autosomal D013920|187950||essential thrombocythemia D013920|187950||essential thrombocythemias D013920|187950||hemorrhagic thrombocythemia D013920|187950||hemorrhagic thrombocythemias D013920|187950||idiopathic thrombocythemia D013920|187950||idiopathic thrombocythemias D013920|187950||primary thrombocythemia D013920|187950||primary thrombocythemias D013920|187950||primary thrombocytoses D013920|187950||primary thrombocytosis D013920|187950||thcyt1 D013920|187950||thrombocythemia 1 D013920|187950||thrombocythemia hemorrhagic D013920|187950||thrombocythemia idiopathic D013920|187950||thrombocythemia primary D013920|187950||thrombocythemias essential D013920|187950||thrombocythemias hemorrhagic D013920|187950||thrombocythemias idiopathic D013920|187950||thrombocythemias primary D013920|187950||thrombocytoses autosomal dominant D013920|187950||thrombocytoses primary D013920|187950||thrombocytosis 1 D013920|187950||thrombocytosis autosomal dominant D013920|187950||thrombocytosis primary D058568||necrolytic migratory erythema D058568||erythema necrolytic migratory D058568||erythemas necrolytic migratory D058568||migratory erythema necrolytic D058568||migratory erythemas necrolytic D058568||necrolytic migratory erythemas D058568||pseudoglucagonoma syndrome D058568||pseudoglucagonoma syndromes D058568||syndrome pseudoglucagonoma D058568||syndromes pseudoglucagonoma C563775|609200||myotilinopathy C563775|609200||mfm3 C563775|609200||myopathy myofibrillar 3 C563775|609200||myopathy myofibrillar myotilin related D015356||retinal artery occlusion D015356||branch retinal artery occlusion D015356||central retinal artery occlusion D015356||occlusion retinal artery D015356||occlusions retinal artery D015356||retinal artery occlusions 607641|C564362||neuronopathy distal hereditary motor type viib 607641|C564362||dhmn7b 607641|C564362||hmn7b 607641|C564362||hmn viib 607641|C564362||lower motor neuron disease dynactin type 607641|C564362||neuropathy distal hereditary motor type viib 607641|C564362||neuropathy distal hereditary motor with vocal cord paralysis type viib D045262||reticulocytosis D045262||reticulocytoses 600901||fanconi anemia complementation group e 600901||face 600901||fance D002057||burns chemical D002057||burn chemical D002057||chemical burn D002057||chemical burns D002058||burns electric D002058||burn electric D002058||electric burn D002058||electric burns D003389||cranial nerve diseases D003389||cranial nerve disease D003389||cranial nerve disorder D003389||cranial nerve disorders D003389||cranial nerve palsies D003389||cranial nerve palsy D003389||cranial neuropathies D003389||cranial neuropathies multiple D003389||cranial neuropathy D003389||cranial neuropathy multiple D003389||multiple cranial neuropathies D003389||multiple cranial neuropathy D003389||nervus cranialis disorder D003389||nervus cranialis disorders D003389||neuropathies cranial D003389||neuropathies multiple cranial D003389||neuropathy cranial D003389||neuropathy multiple cranial D003389||palsies cranial nerve D003389||palsy cranial nerve D002059||burns inhalation D002059||burn inhalation D002059||inhalation burn D002059||inhalation burns 118700|D002819||chorea 118700|D002819||bch 118700|D002819||benign hereditary chorea 118700|D002819||benign hereditary choreas 118700|D002819||bhc 118700|D002819||chorea benign hereditary 118700|D002819||chorea chronic progressive 118700|D002819||chorea disorder 118700|D002819||chorea disorders 118700|D002819||chorea hereditary 118700|D002819||chorea rheumatic 118700|D002819||choreas 118700|D002819||choreas benign hereditary 118700|D002819||choreas chronic progressive 118700|D002819||chorea senile 118700|D002819||choreas hereditary 118700|D002819||choreas rheumatic 118700|D002819||choreas senile 118700|D002819||choreas sydenham 118700|D002819||chorea sydenham 118700|D002819||chorea sydenham apos s 118700|D002819||chorea syndrome 118700|D002819||chorea syndromes 118700|D002819||choreatic disorder 118700|D002819||choreatic disorders 118700|D002819||choreatic syndrome 118700|D002819||choreatic syndromes 118700|D002819||choreic movement 118700|D002819||choreic movements 118700|D002819||choreiform movement 118700|D002819||choreiform movements 118700|D002819||chronic progressive chorea 118700|D002819||chronic progressive choreas 118700|D002819||disorder chorea 118700|D002819||disorder choreatic 118700|D002819||disorders chorea 118700|D002819||disorders choreatic 118700|D002819||dyskinesia paroxysmal 118700|D002819||dyskinesias paroxysmal 118700|D002819||hereditary chorea 118700|D002819||hereditary chorea benign 118700|D002819||hereditary choreas 118700|D002819||hereditary choreas benign 118700|D002819||hereditary progressive chorea without dementia 118700|D002819||movement choreic 118700|D002819||movement choreiform 118700|D002819||movements choreic 118700|D002819||movements choreiform 118700|D002819||paroxysmal dyskinesia 118700|D002819||paroxysmal dyskinesias 118700|D002819||progressive chorea chronic 118700|D002819||progressive choreas chronic 118700|D002819||rheumatic chorea 118700|D002819||rheumatic choreas 118700|D002819||senile chorea 118700|D002819||senile choreas 118700|D002819||st vitus dance 118700|D002819||st vitus apos s dance 118700|D002819||st vituss dance 118700|D002819||st vitus apos s dances 118700|D002819||sydenham chorea 118700|D002819||sydenham choreas 118700|D002819||sydenham apos s chorea 118700|D002819||sydenhams chorea 118700|D002819||syndrome chorea 118700|D002819||syndrome choreatic 118700|D002819||syndromes chorea 118700|D002819||syndromes choreatic D003384||coxsackievirus infections D003384||coxsackievirus infection D003384||coxsackie virus infection D003384||coxsackie virus infections D003384||infections coxsackievirus D003384||infections coxsackie virus D002054||burning mouth syndrome D002054||burning mouth syndromes D002054||mouth syndrome burning D002054||mouth syndromes burning D002054||syndrome burning mouth D002054||syndromes burning mouth 201100|C538178||acrodermatitis enteropathica 201100|C538178||acrodermatitis enteropathica zinc deficiency type 201100|C538178||aez D002056||burns D002056||burn D003387||cracked tooth syndrome D003387||cracked tooth syndromes D003387||syndrome cracked tooth D003387||syndromes cracked tooth C562750|137760||glaucoma primary open angle C562750|137760||glaucoma 1 open angle e included C562750|137760||glaucoma primary open angle adult onset included C562750|137760||glc1e included C562750|137760||poag C536300|309510||partington x linked mental retardation syndrome C536300|309510||mental retardation dystonic movements ataxia seizures syndrome C536300|309510||mental retardation x linked 36 C536300|309510||mental retardation x linked syndromic 1 C536300|309510||mental retardation x linked with dystonic movements ataxia and seizures C536300|309510||mrx36 C536300|309510||mrxs1 C536300|309510||partington syndrome C536300|309510||prts D002062||bursitis D002062||adhesive capsulitides D002062||adhesive capsulitis D002062||bursitides D002062||capsulitides adhesive D002062||capsulitis adhesive D002062||frozen shoulder C536830|606777||de vivo disease C536830|606777||encephalopathy due to glut1 deficiency C536830|606777||glucose transport defect blood brain barrier C536830|606777||glucose transport defect blood brain barrier glut1 deficiency syndrome 1 autosomal recessive included C536830|606777||glucose transporter protein syndrome C536830|606777||glucose transporter type 1 deficiency syndrome C536830|606777||glucose transporter type1 glut 1 deficiency C536830|606777||glut1 deficiency syndrome C536830|606777||glut 1 deficiency syndrome C536830|606777||glut1 deficiency syndrome 1 C536830|606777||glut1ds1 D003390||cranial nerve neoplasms D003390||benign cranial nerve neoplasms D003390||benign cranial nerve tumors D003390||benign cranial neuroma D003390||benign cranial neuromas D003390||cranial nerve neoplasm D003390||cranial nerve neoplasms benign D003390||cranial nerve neoplasms malignant D003390||cranial nerve tumors benign D003390||cranial nerve tumors malignant D003390||cranial neuroma benign D003390||cranial neuromas benign D003390||malignant cranial nerve neoplasms D003390||malignant cranial nerve tumors D003390||neoplasm cranial nerve D003390||neoplasms cranial nerve D003390||neoplasms cranial nerve benign D003390||neoplasms cranial nerve malignant D003390||neuroma benign cranial D003390||neuromas benign cranial D003390||tumors cranial nerve benign D003390||tumors cranial nerve malignant 603188||body mass index quantitative trait locus 8 603188||bmiq8 D030981||acro osteolysis D030981||acroosteolysis D030981||acroosteolysis syndrome D030981||acro osteolysis syndrome D030981||acro osteolysis syndromes D014036||togaviridae infections D014036||diseases togaviridae D014036||disease togaviridae D014036||infections togaviridae D014036||infections togavirus D014036||infection togaviridae D014036||infection togavirus D014036||togaviridae disease D014036||togaviridae diseases D014036||togaviridae infection D014036||togavirus infection D014036||togavirus infections C566931|611497||osteopetrosis autosomal recessive 6 C566931|611497||optb6 C566931|611497||osteopetrosis autosomal recessive intermediate form C563315|601450||dislocation of hip congenital with hyperextensibility of fingers and facial dysmorphism C563315|601450||hip congenital dislocation of with hyperextensibility of fingers and facial dysmorphism 148190|C537022||keratitis hereditary 148190|C537022||dominantly inherited keratitis D016697||herpes zoster oticus D016697||auricular syndrome of ramsay hunt D016697||ganglionitis herpetic geniculate D016697||geniculate ganglionitides herpetic D016697||geniculate ganglionitis herpetic D016697||geniculate herpes zoster D016697||geniculate neuralgia D016697||geniculate neuralgias D016697||herpes zoster auricularis D016697||herpes zoster cephalicus D016697||herpes zoster geniculate D016697||herpetic geniculate ganglionitides D016697||herpetic geniculate ganglionitis D016697||neuralgia geniculate D016697||neuralgias geniculate D016697||ramsay hunt auricular syndrome D016697||ramsay hunt syndrome D016697||syndrome ramsay hunt C536766|278750||xeroderma pigmentosum variant type C536766|278750||photosensitivity with defective dna synthesis C536766|278750||xeroderma pigmentosum with normal dna repair rates C536766|278750||xpv C538375|606762||hyperinsulinemic hypoglycemia familial 6 C538375|606762||hhf6 C538375|606762||hyperinsulinism hyperammonemia syndrome D004688||encopresis D004683||encephalomyelitis equine D004683||encephalitis equine D004683||equine encephalitis D004683||equine encephalomyelitis D004683||equine encephalomyelitis viral infections D004683||equine encephalomyelitis virus infections D004683||infections equine encephalomyelitis virus D004682||encephalomyelitis enzootic porcine D004682||disease talfan D004682||disease teschen D004682||enzootic porcine encephalomyelitis D004682||poliomyelitis porcine D004682||porcine encephalomyelitis enzootic D004682||porcine poliomyelitis D004682||talfan disease D004682||teschen disease D004685||encephalomyelitis venezuelan equine D004685||encephalitis venezuelan equine D004685||encephalomyelitides venezuelan equine D004685||equine encephalitis venezuelan D004685||equine encephalomyelitides venezuelan D004685||equine encephalomyelitis venezuelan D004685||venezuelan equine encephalitis D004685||venezuelan equine encephalomyelitides D004685||venezuelan equine encephalomyelitis D004684||leukoencephalitis acute hemorrhagic D004684||acute hemorrhagic leukoencephalitides D004684||acute hemorrhagic leukoencephalitis D004684||acute necrotizing encephalitides D004684||acute necrotizing encephalitis D004684||disease hurst D004684||disease hurst apos s D004684||encephalitides acute necrotizing D004684||encephalitis acute necrotizing D004684||encephalomyelitides hemorrhagic necrotizing D004684||encephalomyelitis acute necrotizing hemorrhagic D004684||encephalomyelitis hemorrhagic necrotizing D004684||encephalomyelitis necrotizing hemorrhagic D004684||hemorrhagic encephalomyelitides necrotizing D004684||hemorrhagic encephalomyelitis necrotizing D004684||hemorrhagic leukoencephalitides acute D004684||hemorrhagic leukoencephalitides subacute D004684||hemorrhagic leukoencephalitis acute D004684||hemorrhagic leukoencephalitis subacute D004684||hemorrhagic necrotizing encephalomyelitis D004684||hurst disease D004684||hurst apos s disease D004684||hursts disease D004684||hurst syndrome D004684||leukoencephalitides acute hemorrhagic D004684||leukoencephalitides subacute hemorrhagic D004684||leukoencephalitis acuta hemorrhagica D004684||leukoencephalitis subacute hemorrhagic D004684||necrotizing encephalitides acute D004684||necrotizing encephalitis acute D004684||necrotizing encephalomyelitides hemorrhagic D004684||necrotizing encephalomyelitis hemorrhagic D004684||necrotizing hemorrhagic encephalomyelitides D004684||necrotizing hemorrhagic encephalomyelitis D004684||subacute hemorrhagic leukoencephalitides D004684||subacute hemorrhagic leukoencephalitis D004684||syndrome hurst D003354||corynebacterium infections D003354||corynebacterium infection D003354||infection corynebacterium D003354||infections corynebacterium D014009||onychomycosis D014009||fungus nail D014009||nail fungus D014009||onychomycoses D014009||tinea ungui D014009||tinea unguis D014009||tinea unguium D014009||tinea unguiums D014009||unguis tinea D014009||ungui tinea D014009||unguiums tinea D014009||unguium tinea C535301|605253||charcot marie tooth disease type 4e C535301|605253||charcot marie tooth neuropathy type 4e C535301|605253||charcot marie tooth neuropathy type 4e neuropathy congenital hypomyelinating autosomal dominant included C535301|605253||chn C535301|605253||cmt4e C535301|605253||congenital hypomyelinating neuropathy C535301|605253||congenital hypomyelinating neuropathy chn C535301|605253||hypomyelination severe congenital C535301|605253||neuropathy congenital hypomyelinating C535301|605253||neuropathy congenital hypomyelinating or amyelinating autosomal recessive D004692||endarteritis D004692||endarteritides D014008||tinea pedis D014008||athlete foot D014008||athlete apos s foot D014008||athletes foot D014007||tinea favosa D014007||favus C537990|605588||charcot marie tooth disease type 2b1 C537990|605588||charcot marie tooth disease axonal autosomal recessive 2b1 C537990|605588||charcot marie tooth disease axonal autosomal recessive b1 C537990|605588||charcot marie tooth disease axonal type 2b1 C537990|605588||charcot marie tooth disease neuronal type 2b1 C537990|605588||charcot marie tooth neuropathy type 2b1 C537990|605588||cmt2b1 154400|C538184||acrofacial dysostosis nager type 154400|C538184||acrofacial dysostosis 1 nager type 154400|C538184||afd1 154400|C538184||afd nager type 154400|C538184||mandibulofacial dysostosis treacher collins type with limb anomalies 154400|C538184||nager acrofacial dysostosis 154400|C538184||nager acrofacial dysostosis syndrome 154400|C538184||nager syndrome 154400|C538184||preaxial acrofacial dysostosis 154400|C538184||preaxial mandibulofacial dysostosis D014006||tinea capitis D014006||barbae trichophytia profunda D014006||capitides trichophytia profunda D014006||capitis profundas tinea D014006||capitis profunda tinea D014006||capitis trichophytia profunda D014006||kerion celsi D014006||profunda barbae trichophytia D014006||profunda capitides trichophytia D014006||profunda capitis trichophytia D014006||profundas tinea capitis D014006||profunda tinea capitis D014006||tinea capitis profunda D014006||tinea capitis profundas D014006||trichophytia profunda barbae D014006||trichophytia profunda capitides D014006||trichophytia profunda capitis D014005||tinea D014005||dermatophytoses D014005||dermatophytosis D014005||epidermophytoses D014005||epidermophytosis D014005||ringworm D014005||tineas D014005||trichophytoses D014005||trichophytosis C566587|602078||fibrosis of extraocular muscles congenital 2 C566587|602078||cfeom2 C566587|602078||feom2 locus C566587|602078||fibrosis of extraocular muscles congenital autosomal recessive D004698||endocarditis subacute bacterial D004698||bacterial endocarditides subacute D004698||bacterial endocarditis subacute D004698||endocarditides subacute bacterial D004698||endocarditis lenta D004698||subacute bacterial endocarditides D004698||subacute bacterial endocarditis D004697||endocarditis bacterial D004697||bacterial endocarditides D004697||bacterial endocarditis D004697||endocarditides bacterial C564921|259440||osteogenesis imperfecta type ix C564921|259440||oi9 C564921|259440||oi type ix C564921|259440||osteogenesis imperfecta sillence type ii iii without abnormality of type i collagen D002037||anterior fascicular block D002037||anterior fascicular blocks D002037||block anterior fascicular D002037||block bundle branch D002037||block fascicular D002037||block left bundle branch D002037||block posterior fascicular D002037||block right bundle branch D002037||blocks anterior fascicular D002037||blocks bundle branch D002037||blocks fascicular D002037||blocks left bundle branch D002037||blocks posterior fascicular D002037||blocks right bundle branch D002037||branch block bundle D002037||branch blocks bundle D002037||bundle branch block left D002037||bundle branch block right D002037||bundle branch blocks D002037||bundle branch blocks left D002037||bundle branch blocks right D002037||fascicular block D002037||fascicular block anterior D002037||fascicular block posterior D002037||fascicular blocks D002037||fascicular blocks anterior D002037||fascicular blocks posterior D002037||left bundle branch block D002037||left bundle branch blocks D002037||posterior fascicular block D002037||posterior fascicular blocks D002037||right bundle branch block D002037||right bundle branch blocks C537250|603553||hemophagocytic lymphohistiocytosis familial 2 C537250|603553||fhl2 C537250|603553||hlh2 C537250|603553||hplh2 D004694||endocardial cushion defects D004694||cushion defect endocardial D004694||cushion defects endocardial D004694||defect endocardial cushion D004694||defects endocardial cushion D004694||endocardial cushion defect D004694||persistent common atrioventricular canal D002032||bulimia D002032||binge eating D002032||bulimias D002032||eating binge D004696||endocarditis D004696||endocarditides D004696||endocarditides infective D004696||endocarditis infective D004696||infective endocarditides D004696||infective endocarditis D004695||endocardial fibroelastosis D004695||endocardial fibroelastoses D004695||endomyocardial fibroelastosis D004695||fibroelastoses endocardial D004695||fibroelastosis endocardial C567090|611762||familial cold autoinflammatory syndrome 2 C567090|611762||fcas2 D003371||cough D003371||coughs 219750|C535765||cystinosis ocular nonnephropathic 219750|C535765||cystinosis adult nonnephropathic 219750|C535765||cystinosis benign nonnephropathic 219750|C535765||ocular nonnephropathic cystinosis D014012||tinnitus D014012||clicking tinnitus D014012||induced tinnitus noise D014012||leudet apos s tinnitus D014012||leudet tinnitus D014012||noise induced tinnitus D014012||objective tinnitus D014012||pulsatile tinnitus D014012||ringing buzzing tinnitus D014012||spontaneous oto acoustic emission tinnitus D014012||subjective tinnitus D014012||tensor palatini induced tinnitus D014012||tensor tympani induced tinnitus D014012||tinnitus clicking D014012||tinnitus leudet D014012||tinnitus leudets D014012||tinnitus leudet apos s D014012||tinnitus noise induced D014012||tinnitus objective D014012||tinnitus of vascular origin D014012||tinnitus pulsatile D014012||tinnitus spontaneous oto acoustic emission D014012||tinnitus subjective D014012||tinnitus tensor palatini induced D014012||tinnitus tensor tympani induced D014012||tinnitus vascular origin D014012||vascular origin tinnitus D014010||tinea versicolor D014010||pityriasis versicolor C565016|135400||hypertrichosis terminalis generalized with or without gingival hyperplasia C565016|135400||chromosome 17q24 2 q24 3 deletion syndrome C565016|135400||fibromatosis gingival with hypertrichosis C565016|135400||microdeletion 17q24 2 q24 3 syndrome D016672||zenker diverticulum D016672||diverticula esophago pharyngeal D016672||diverticula pharyngeal D016672||diverticula pharyngoesophageal D016672||diverticula pharyngo esophageal D016672||diverticula pharyngoesophageal pulsion D016672||diverticula zenker apos s D016672||diverticulum esophagopharyngeal D016672||diverticulum esophago pharyngeal D016672||diverticulum pharyngeal D016672||diverticulum pharyngoesophageal D016672||diverticulum pharyngo esophageal D016672||diverticulum pharyngoesophageal pulsion D016672||diverticulums esophagopharyngeal D016672||diverticulum zenker D016672||diverticulum zenker apos s D016672||esophago pharyngeal diverticula D016672||esophagopharyngeal diverticulum D016672||esophago pharyngeal diverticulum D016672||esophagopharyngeal diverticulums D016672||pharyngeal diverticula D016672||pharyngeal diverticulum D016672||pharyngoesophageal diverticula D016672||pharyngo esophageal diverticula D016672||pharyngoesophageal diverticulum D016672||pharyngo esophageal diverticulum D016672||pharyngoesophageal pulsion diverticula D016672||pharyngoesophageal pulsion diverticulum D016672||pulsion diverticula pharyngoesophageal D016672||pulsion diverticulum pharyngoesophageal D016672||zenker diverticula D016672||zenker apos s diverticula D016672||zenkers diverticula D016672||zenker apos s diverticulum D016672||zenkers diverticulum D002006||brucellosis D002006||brucelloses D002006||brucelloses pulmonary D002006||brucellosis pulmonary D002006||cyprus fever D002006||cyprus fevers D002006||fever cyprus D002006||fever gibraltar D002006||fever malta D002006||fever rock D002006||fevers cyprus D002006||fevers rock D002006||fevers undulant D002006||fever undulant D002006||gibraltar fever D002006||malta fever D002006||pulmonary brucelloses D002006||pulmonary brucellosis D002006||rock fever D002006||rock fevers D002006||undulant fever D002006||undulant fevers D002007||brucellosis bovine D002007||bang disease D002007||bang apos s disease D002007||bangs disease D002007||bovine brucelloses D002007||bovine brucellosis D002007||brucelloses bovine D002007||disease bang D002007||disease bang apos s D004660||encephalitis D004660||brain inflammation D004660||brain inflammations D004660||encephalitides infectious D004660||encephalitis infectious D004660||encephalitis rasmussen D004660||infectious encephalitides D004660||infectious encephalitis D004660||inflammation brain D004660||rasmussen encephalitis D004660||rasmussen apos s syndrome D004660||rasmussen syndrome D003330||coronary vessel anomalies D003330||anomalies coronary vessel D003330||anomaly coronary vessel D003330||coronary vessel anomaly D015318||fructose metabolism inborn errors 500004|D052245||usher syndromes 500004|D052245||deafness retinitis pigmentosa syndrome 500004|D052245||deafness retinitis pigmentosa syndromes 500004|D052245||dystrophia retinae pigmentosa dysostosis syndrome 500004|D052245||graefe usher syndrome 500004|D052245||hallgren syndrome 500004|D052245||pigmentosa syndromes deafness retinitis 500004|D052245||retinitis pigmentosa 21 formerly 500004|D052245||retinitis pigmentosa 8 formerly 500004|D052245||retinitis pigmentosa and congenital deafness 500004|D052245||retinitis pigmentosa deafness syndrome 500004|D052245||retinitis pigmentosa deafness syndromes 500004|D052245||rp21 formerly 500004|D052245||rp8 formerly 500004|D052245||syndrome deafness retinitis pigmentosa 500004|D052245||syndrome graefe usher 500004|D052245||syndrome hallgren 500004|D052245||syndrome retinitis pigmentosa deafness 500004|D052245||syndromes deafness retinitis pigmentosa 500004|D052245||syndromes retinitis pigmentosa deafness 500004|D052245||syndromes usher 500004|D052245||syndrome usher 500004|D052245||syndrome usher apos s 500004|D052245||usher apos s syndrome 500004|D052245||ushers syndrome 500004|D052245||usher syndrome 500004|D052245||usher syndrome type 1 500004|D052245||usher syndrome type 1a 500004|D052245||usher syndrome type 3 500004|D052245|C536485|276900||usher syndrome type i 500004|D052245||usher syndrome type i french variety 500004|D052245||usher syndrome type ii 500004|D052245|611383||usher syndrome type iid 500004|D052245|276902||usher syndrome type iii D004670||encephalitis california D004670||california encephalitis D004670||california viral encephalitides D004670||california viral encephalitis D004670||encephalitides california viral D004670||encephalitis california viral D004670||viral encephalitides california D004670||viral encephalitis california D006432|235200|D016399||hemochromatosis D006432|235200||bronzed cirrhoses D006432|235200||bronzed cirrhosis D006432|235200||bronze diabetes D006432|235200||cirrhoses bronzed D006432|235200||cirrhoses pigmentary D006432|235200||cirrhosis bronzed D006432|235200||cirrhosis pigmentary D006432|235200||diabetes bronze D006432|235200||diseases von recklenhausen applebaum D006432|235200||disease von recklenhausen applebaum D006432|235200||disorder iron storage D006432|235200||disorders iron storage D006432|235200||familial hemochromatoses D006432|235200||familial hemochromatosis D006432|235200||genetic hemochromatoses D006432|235200||genetic hemochromatosis D006432|235200||haemochromatoses D006432|235200||haemochromatosis D006432|235200||hemochromatose D006432|235200||hemochromatoses D006432|235200||hemochromatoses familial D006432|235200||hemochromatoses genetic D006432|235200||hemochromatosis familial D006432|235200||hemochromatosis genetic D006432|235200||hemochromatosis hereditary D006432|235200||hemochromatosis type 1 D006432|235200||hfe D006432|235200||hfe1 D006432|235200||hh D006432|235200||iron storage disorder D006432|235200||iron storage disorders D006432|235200||pigmentary cirrhoses D006432|235200||pigmentary cirrhosis D006432|235200||primary hemochromatosis D006432|235200||recklenhausen applebaum diseases von D006432|235200||recklenhausen applebaum disease von D006432|235200||storage disorder iron D006432|235200||storage disorders iron D006432|235200||syndromes troisier hanot chauffard D006432|235200||syndrome troisier hanot chauffard D006432|235200||troisier hanot chauffard syndrome D006432|235200||troisier hanot chauffard syndromes D006432|235200||von recklenhausen applebaum disease D006432|235200||von recklenhausen applebaum diseases C535279|608646||primary ciliary dyskinesia 4 C535279|608646||cild4 C535279|608646||ciliary dyskinesia primary 4 C535279|608646||ciliary dyskinesia primary 4 with or without situs inversus D016643||encephalopathy bovine spongiform D016643||bovine spongiform encephalitis D016643||bovine spongiform encephalopathy D016643||bse bovine spongiform encephalopathy D016643||bses bovine spongiform encephalopathy D016643||encephalitis bovine spongiform D016643||mad cow disease D016643||mad cow diseases D016643||spongiform encephalopathy bovine D016640||diabetes gestational D016640||diabetes mellitus gestational D016640||diabetes pregnancy induced D016640||gestational diabetes D016640||gestational diabetes mellitus D016640||pregnancy induced diabetes C566425|602772||retinitis pigmentosa 25 C566425|602772||rp25 D004679||encephalomyelitis D004679||encephalomyelitis inflammatory D004679||inflammatory encephalomyelitis D004679||myeloencephalitides D004679||myeloencephalitis C567191|146450||hypospadias 3 autosomal C567191|146450||hysp3 D004675||encephalitis tick borne D004675||central european encephalitis D004675||encephalitides european tick borne D004675||encephalitides louping ill D004675||encephalitides powassan D004675||encephalitides tick borne D004675||encephalitis central european D004675||encephalitis european tick borne D004675||encephalitis far eastern russian D004675||encephalitis louping ill D004675||encephalitis powassan D004675||encephalitis russian spring summer D004675||european tick borne encephalitides D004675||european tick borne encephalitis D004675||far eastern russian encephalitis D004675||louping ill encephalitides D004675||louping ill encephalitis D004675||powassan encephalitides D004675||powassan encephalitis D004675||russian spring summer encephalitis D004675||spring summer encephalitis russian D004675||tick borne encephalitides D004675||tick borne encephalitides european D004675||tick borne encephalitis D004675||tick borne encephalitis european D004678||encephalomalacia D004678||cerebromalacia D004678||cerebromalacias D004678||encephalomalacia multicystic D004678||encephalomalacias D004678||encephalomalacias multicystic D004678||multicystic encephalomalacia D004678||multicystic encephalomalacias D004677||encephalocele D004677||acquired encephalocele D004677||acquired encephaloceles D004677||bifid cranium D004677||bifid craniums D004677||bifidum cranium D004677||bifidums cranium D004677||cephalocele D004677||cephaloceles D004677||cerebellar hernia D004677||cerebellar hernias D004677||cerebellar herniation D004677||cerebellar herniations D004677||cerebral hernia D004677||cerebral hernias D004677||cranial meningoencephalocele D004677||cranial meningoencephaloceles D004677||craniocele D004677||cranioceles D004677||cranium bifid D004677||cranium bifidum D004677||cranium bifidums D004677||craniums bifid D004677||encephalocele acquired D004677||encephalocele frontal D004677||encephalocele occipital D004677||encephaloceles D004677||encephaloceles acquired D004677||encephaloceles frontal D004677||encephalocele sincipital D004677||encephaloceles occipital D004677||encephaloceles sincipital D004677||frontal encephalocele D004677||frontal encephaloceles D004677||hernia cerebellar D004677||hernia cerebral D004677||hernias cerebellar D004677||hernias cerebral D004677||hernias tonsillar D004677||herniation cerebellar D004677||herniations cerebellar D004677||herniations tonsillar D004677||herniation tonsillar D004677||hernia tonsillar D004677||meningoencephalocele cranial D004677||meningoencephaloceles cranial D004677||notoencephalocele D004677||notoencephaloceles D004677||occipital encephalocele D004677||occipital encephaloceles D004677||sincipital encephalocele D004677||sincipital encephaloceles D004677||tonsillar hernia D004677||tonsillar hernias D004677||tonsillar herniation D004677||tonsillar herniations D004672||encephalitis japanese D004672||encephalitis japanese b D004672||japanese b encephalitis D004672||japanese b viral encephalitis D004672||japanese encephalitis D004672||viral encephalitis japanese b C562591|278730||xeroderma pigmentosum complementation group d C562591|278730||trichothiodystrophy type 1 included C562591|278730||ttd1 included C562591|278730||xeroderma pigmentosum iv C562591|278730||xeroderma pigmentosum iv xp4 trichothiodystrophy with sun sensitivity included C562591|278730||xeroderma pigmentosum viii formerly C562591|278730||xp4 C562591|278730||xp8 formerly C562591|278730||xpd C562591|278730||xpdc C562591|278730||xp group d C562591|278730||xp group h formerly C562591|278730||xph formerly D004671||encephalitis arbovirus D004671||arbovirus encephalitides D004671||arbovirus encephalitis D004671||arthropod borne encephalitides D004671||arthropod borne encephalitis D004671||arthropod borne viral encephalitides D004671||arthropod borne viral encephalitis D004671||encephalitides arbovirus D004671||encephalitides arthropod borne D004671||encephalitides arthropod borne viral D004671||encephalitides epidemic D004671||encephalitides mosquito borne D004671||encephalitis arthropod borne D004671||encephalitis arthropod borne viral D004671||encephalitis epidemic D004671||encephalitis mosquito borne D004671||epidemic encephalitides D004671||epidemic encephalitis D004671||mosquito borne encephalitides D004671||mosquito borne encephalitis D004671||viral encephalitides arthropod borne D004671||viral encephalitis arthropod borne D004674||encephalitis st louis D004674||encephalitis saint louis D004674||encephalitis viral st louis D004674||lethargic encephalitis type c D004674||louis meningoencephalitides st D004674||meningoencephalitides st louis D004674||meningoencephalitis st louis D004674||saint louis encephalitis D004674||st louis encephalitis D004674||st louis meningoencephalitides D004674||st louis meningoencephalitis D004674||st louis viral encephalitis D004674||type c lethargic encephalitis C567729|613144||choroidal dystrophy central areolar 3 C567729|613144||cacd3 C567729|613144||choroidal dystrophy central areolar with or without drusen D004673||encephalomyelitis acute disseminated D004673||acute disseminated encephalomyelitides D004673||acute disseminated encephalomyelitis D004673||disseminated encephalomyelitides acute D004673||disseminated encephalomyelitis acute D004673||encephalitides post vaccinal D004673||encephalitis postvaccinal D004673||encephalitis post vaccinal D004673||encephalitis vaccination D004673||encephalomyelitides acute disseminated D004673||encephalomyelitides post vaccinal D004673||encephalomyelitis postexanthem D004673||encephalomyelitis postinfectious D004673||encephalomyelitis post vaccinal D004673||postexanthem encephalomyelitis D004673||postinfectious encephalomyelitis D004673||post vaccinal encephalitides D004673||postvaccinal encephalitis D004673||post vaccinal encephalitis D004673||post vaccinal encephalomyelitides D004673||post vaccinal encephalomyelitis D004673||vaccination encephalitis D002012||bruxism D002012||disorders teeth grinding D002012||disorder teeth grinding D002012||grinding disorders teeth D002012||grinding disorder teeth D002012||teeth grinding disorder D002012||teeth grinding disorders D004681||encephalomyelitis autoimmune experimental D004681||allergic encephalomyelitis D004681||allergic encephalomyelitis experimental D004681||autoimmune encephalomyelitis experimental D004681||autoimmune experimental encephalomyelitis D004681||encephalomyelitis allergic D004681||encephalomyelitis experimental allergic D004681||encephalomyelitis experimental autoimmune D004681||experimental allergic encephalomyelitides D004681||experimental allergic encephalomyelitis D004681||experimental autoimmune encephalomyelitis D004681||experimental encephalomyelitis autoimmune C536510|249270||thiamine responsive megaloblastic anemia syndrome C536510|249270||abboud syndrome C536510|249270||megaloblastic anemia thiamine responsive with diabetes mellitus and sensorineural deafness C536510|249270||rogers syndrome C536510|249270||thiamine metabolism dysfunction syndrome 1 megaloblastic anemia diabetes mellitus and deafness type C536510|249270||thiamine responsive anemia syndrome C536510|249270||thiamine responsive myelodysplasia C536510|249270||thmd1 C536510|249270||trma C562908|187260||telangiectasia hereditary benign C562908|187260||hbt D016659||psoas abscess D016659||abscesses iliopsoas D016659||abscesses psoas D016659||abscesses pyogenic iliopsoas D016659||abscess iliopsoas D016659||abscess psoas D016659||abscess pyogenic iliopsoas D016659||iliopsoas abscess D016659||iliopsoas abscesses D016659||iliopsoas abscesses pyogenic D016659||iliopsoas abscess pyogenic D016659||psoas abscesses D016659||pyogenic iliopsoas abscess D016659||pyogenic iliopsoas abscesses C567498|611897||nanophthalmos 3 C567498|611897||nanophthalmia 3 C567498|611897||nno3 D016657||cerebral amyloid angiopathy D016657||amyloid angiopathy cerebral D016657||angiopathy cerebral amyloid D016657||angiopathy congophilic D016657||cerebral amyloid angiopathies D016657||congophilic angiopathies D016657||congophilic angiopathy D016657||sporadic cerebral amyloid angiopathy D015323||pyruvate metabolism inborn errors C536190|225280||ectodermal dysplasia ectrodactyly and macular dystrophy C536190|225280||ectodermal dysplasia ectrodactyly macular dystrophy C536190|225280||eem syndrome C537527|245050||succinyl coa 3 oxoacid coa transferase deficiency C537527|245050||3 oxoacid coa transferase deficiency C537527|245050||ketoacidosis due to scot deficiency C537527|245050||scot deficiency C537527|245050||succinyl coa 3 ketoacid coa transferase deficiency C537527|245050||succinyl coa 3 oxoacid transferase deficiency C537527|245050||succinyl coa acetoacetate transferase deficiency D002105||cadmium poisoning D002105||cadmium poisonings D002105||itai itai D002105||poisoning cadmium D002105||poisonings cadmium D004767||enterotoxemia D004767||enterotoxemias D054908||extensively drug resistant tuberculosis D054908||drug resistant tuberculoses extensively D054908||drug resistant tuberculoses extremely D054908||drug resistant tuberculosis extensively D054908||drug resistant tuberculosis extremely D054908||extensively drug resistant tuberculoses D054908||extremely drug resistant tuberculoses D054908||extremely drug resistant tuberculosis D054908||tuberculoses extensively drug resistant D054908||tuberculoses extremely drug resistant D054908||tuberculosis extensively drug resistant D054908||tuberculosis extremely drug resistant D054908||xdr tb D004769||enterovirus infections D004769||enterovirus infection D004769||infection enterovirus D004769||infections enterovirus C567306|612447||skeletal defects genital hypoplasia and mental retardation 128100|C538005||dystonia musculorum deformans type 1 128100|C538005||dystonia 1 torsion autosomal dominant 128100|C538005||dystonia musculorum deformans 1 128100|C538005||dyt1 128100|C538005||early onset generalized torsion dystonia 128100|C538005||early onset primary dystonia 128100|C538005||early onset torsion dystonia 128100|C538005||eotd 128100|C538005||oppenheim dystonia 128100|C538005||oppenheim apos s dystonia 128100|C538005||primary torsion dystonia 128100|C538005||torsion dystonia 1 autosomal dominant D002102||cadaver D002102||cadavers D002102||corpse D002102||corpses D004760||enterocolitis D004760||enterocolitides 610217||neuroaxonal dystrophy atypical karak syndrome included C536044|259420||osteogenesis imperfecta type 3 C536044|259420||oi3 C536044|259420||oi type iii C536044|259420||osteogenesis imperfecta progressively deforming with normal sclerae C536044|259420||osteogenesis imperfecta type iii D004761||enterocolitis pseudomembranous D004761||antibiotic associated colitis D004761||clostridium enterocolitis D004761||colitis antibiotic associated D004761||colitis pseudomembranous D004761||enteritis pseudomembranous D004761||pseudomembranous colitis D004761||pseudomembranous enteritis D004761||pseudomembranous enterocolitis D002100||cachexia C567422|612095||retinitis pigmentosa 41 C567422|612095||retinal degeneration autosomal recessive prominin related C567422|612095||rp41 D015418||optic atrophies hereditary D015418||atrophies hereditary optic D015418||atrophy hereditary optic D015418||hereditary optic atrophies D015418||hereditary optic atrophy D015418||optic atrophy hereditary D057178||primary progressive nonfluent aphasia D057178||aphasia progressive nonfluent D057178||aphasias progressive nonfluent D057178||nonfluent aphasia progressive D057178||nonfluent aphasias progressive D057178||non fluent primary progressive aphasia D057178||ppa syndrome D057178||ppa syndromes D057178||progressive nonfluent aphasia D057178||progressive nonfluent aphasias D057178||syndrome ppa D057178||syndromes ppa C566437|610131||progressive external ophthalmoplegia with mitochondrial dna deletions autosomal dominant 4 C566437|610131||peoa4 C566437|610131||progressive external ophthalmoplegia autosomal dominant 4 D057174||frontotemporal lobar degeneration D057174||degeneration frontotemporal lobar D057174||degenerations frontotemporal lobar D057174||frontotemporal lobar degenerations D057174||ftld D057174||ftlds D057174||lobar degeneration frontotemporal D057174||lobar degenerations frontotemporal C563924|608456||colorectal adenomatous polyposis autosomal recessive C563924|608456||adenomas multiple colorectal autosomal recessive C563924|608456||familial adenomatous polyposis 2 C563924|608456||fap2 D015419||spastic paraplegia hereditary D015419||autosomal dominant hereditary spastic paraplegia D015419||autosomal dominant spastic paraplegia hereditary D015419||autosomal recessive hereditary spastic paraplegia D015419||autosomal recessive spastic paraplegia hereditary D015419||charcot marie tooth disease with pyramidal features autosomal dominant D015419||cmt with pyramidal features D015419||hereditary autosomal dominant spastic paraplegia D015419||hereditary autosomal recessive spastic paraplegia D015419||hereditary motor and sensory neuropathy 5 D015419||hereditary motor and sensory neuropathy v D015419||hereditary motor sensory neuropathy with pyramidal signs D015419||hereditary spastic paraplegia D015419||hereditary spastic paraplegia autosomal dominant D015419||hereditary spastic paraplegia autosomal recessive D015419||hereditary spastic paraplegias D015419||hereditary spastic paraplegia x linked recessive D015419||hereditary x linked recessive spastic paraplegia D015419||hmsn 5 D015419||hmsn type v D015419||hmsn v D015419||hmsn v hereditary motor and sensory neuropathy type v D015419||hypertrophic motor sensory neuropathy spastic paraplegia D015419||paraplegia hereditary spastic D015419||paraplegias hereditary spastic D015419||paraplegia spastic hereditary D015419||peroneal muscular atrophy with pyramidal features autosomal dominant D015419||spastic paraplegia 2 D015419||spastic paraplegia autosomal dominant hereditary D015419||spastic paraplegia autosomal recessive hereditary D015419||spastic paraplegia hereditary autosomal dominant D015419||spastic paraplegia hereditary autosomal recessive D015419||spastic paraplegia hereditary x linked recessive D015419||spastic paraplegia hypertrophic motor sensory neuropathy D015419||spastic paraplegias hereditary D015419||spastic paraplegia type 2 D015419||spastic paraplegia x linked recessive hereditary D015419||type v hereditary motor and sensory neuropathy D015419||type v hmsn D015419||x linked recessive hereditary spastic paraplegia D015419||x linked spastic paraplegia hereditary D057177||tdp 43 proteinopathies D057177||proteinopathies tdp 43 D057177||proteinopathy tdp 43 D057177||tdp 43 proteinopathy D013398|272120||sudden infant death D013398|272120||cot death D013398|272120||cot deaths D013398|272120||crib death D013398|272120||death cot D013398|272120||death crib D013398|272120||death sudden infant D013398|272120||infant death sudden D013398|272120||sid D013398|272120||sids D013398|272120||sudden infant death syndrome C566333|613693||long qt syndrome 6 C566333|613693|C565840|603830||long qt syndrome 3 6 digenic included lqt3 6 digenic included C566333|613693||long qt syndrome 6 acquired susceptibility to included C566333|613693||lqt6 D003449||cryoglobulinemia D003449||cryoglobulinemias D004775||enuresis D004774||entropion D004774||entropions D003444||crush syndrome D003444||crush syndromes D003444||syndrome crush D003444||syndromes crush D002114||calcinosis D002114||calcification pathologic D002114||calcinoses D002114||calcinoses tumoral D002114||calcinosis tumoral D002114||pathologic calcification D002114||tumoral calcinoses D002114||tumoral calcinosis D002115||calciphylaxis D002115||calciphylaxes D002115||calciphylaxis idiopathic D002115||idiopathic calciphylaxis 611038|C567025||microphthalmia isolated 3 611038|C567025||mcop3 C567037|604559||progressive familial heart block type ib C567037|604559||pfhb1b C567037|604559||pfhbib D003440||croup D003440||croup postintubation D003440||croup spasmodic D003440||croup viral D003440||postintubation croup D003440||spasmodic croup D003440||viral croup D015428||myocardial reperfusion injury D015428||injuries myocardial reperfusion D015428||injury myocardial reperfusion D015428||myocardial ischemic reperfusion injury D015428||myocardial reperfusion injuries D015428||reperfusion injuries myocardial D015428||reperfusion injury myocardial D015427||reperfusion injury D015427||damage reperfusion D015427||damages reperfusion D015427||injuries ischemia reperfusion D015427||injuries reperfusion D015427||injury ischemia reperfusion D015427||injury reperfusion D015427||ischemia reperfusion injuries D015427||ischemia reperfusion injury D015427||reperfusion damage D015427||reperfusion damages D015427||reperfusion injuries C565323|605544||fibromatosis gingival 2 C565323|605544||fibromatosis gingival hereditary 2 C565323|605544||ggf2 C565323|605544||gingf2 C565323|605544||hgf2 D016757||death sudden cardiac D016757||arrest sudden cardiac D016757||cardiac arrests sudden D016757||cardiac arrest sudden D016757||cardiac death sudden D016757||cardiac sudden death D016757||death cardiac sudden D016757||sudden cardiac arrest D016757||sudden cardiac death D016757||sudden death cardiac D007566|237500||jaundice chronic idiopathic D007566|237500||chronic idiopathic jaundice D007566|237500||chronic idiopathic jaundices D007566|237500||djs D007566|237500||dubin johnson syndrome D007566|237500||hblrdj D007566|237500||hyperbilirubinemia 2 D007566|237500||hyperbilirubinemia 2s D007566|237500||hyperbilirubinemia dubin johnson type D007566|237500||hyperbilirubinemia ii D007566|237500||hyperbilirubinemia iis D007566|237500||idiopathic jaundice chronic D007566|237500||idiopathic jaundices chronic D007566|237500||jaundices chronic idiopathic D007566|237500||syndrome dubin johnson C573898||triphalangeal thumb D015423||scleritis D015423||episcleritides D015423||episcleritis D015423||necrotizing scleritides D015423||necrotizing scleritis D015423||scleritides D015423||scleritides necrotizing D015423||scleritis necrotizing D016751||hepatitis e D016751||enterically transmitted non a non b hepatitis D016751||epidemic non a non b hepatitis D016751||et nanbh D016751||hepatitides water borne D016751||hepatitis viral non a non b enterically transmitted D016751||hepatitis water borne D016751||water borne hepatitides D016751||water borne hepatitis D015422||scleral diseases D015422||disease sclera D015422||disease scleral D015422||diseases sclera D015422||diseases scleral D015422||sclera disease D015422||sclera diseases D015422||scleral disease D004749||entamoebiasis D004749||entamoebiases C567043|610965||xfe progeroid syndrome C567043|610965||xpf ercc1 progeroid syndrome C536612|125630||familial dermographism C536612|125630||ddu C536612|125630||dermatographism familial C536612|125630||dermo distortive urticaria C536612|125630||dermodistortive urticaria C536612|125630||dermographism familial C536612|125630||familial dermatographism C566977|611274||glaucoma 1 open angle n C566977|611274||glc1n C566874|603516||spinocerebellar ataxia 10 C566874|603516||sca10 612862||pulmonary hypertension chronic thromboembolic without deep vein thrombosis susceptibility to 612862||cteph dvt negative susceptibility to D016724||empyema pleural D016724||empyemas pleural D016724||empyemas thoracic D016724||empyema thoracic D016724||pleural empyema D016724||pleural empyemas D016724||pyothorax D016724||thoracic empyema D016724||thoracic empyemas D016726||plasma cell granuloma pulmonary D016726||granuloma plasma cell pulmonary D016726||inflammatory pseudotumor of lung D016726||inflammatory pseudotumor pulmonary D016726||inflammatory pseudotumors pulmonary D016726||inflammatory pulmonary pseudotumor D016726||inflammatory pulmonary pseudotumors D016726||plasma cell granuloma of lung D016726||pseudotumor inflammatory pulmonary D016726||pseudotumor pulmonary inflammatory D016726||pulmonary granuloma plasma cell D016726||pulmonary inflammatory pseudotumor D016726||pulmonary inflammatory pseudotumors D016726||pulmonary plasma cell granuloma D016726||pulmonary pseudotumor inflammatory D016726||pulmonary pseudotumors inflammatory D016727||orbital pseudotumor D016727||granuloma plasma cell orbital D016727||inflammatory pseudotumor of orbit D016727||inflammatory pseudotumor orbital D016727||inflammatory pseudotumors orbital D016727||orbital granuloma plasma cell D016727||orbital inflammatory pseudotumor D016727||orbital inflammatory pseudotumors D016727||orbital pseudotumors D016727||plasma cell granuloma orbital D016727||pseudotumor inflammatory orbital D016727||pseudotumor orbital D016727||pseudotumor orbital inflammatory D016727||pseudotumors orbital D016720||pneumocystis infections D016720||infection pneumocystis D016720||infections pneumocystis D016720||pneumocystis carinii infection D016720||pneumocystis carinii infections D016720||pneumocystis infection C567677|613268||corneal dystrophy fuchs endothelial 4 C567677|613268||fecd4 300705|C563140||mental retardation x linked 17 300705|C563140||mrx17 300705|C563140||mrx31 D004756||enterobacteriaceae infections D004756||enterobacteriaceae infection D004756||enterobacterial infection D004756||enterobacterial infections D004756||infection enterobacteriaceae D004756||infection enterobacterial D004756||infections enterobacteriaceae D004756||infections enterobacterial D053609||lethargy D003428||cross infection D003428||cross infections D003428||hospital infection D003428||hospital infections D003428||infection cross D003428||infection hospital D003428||infection nosocomial D003428||infections cross D003428||infections hospital D003428||infections nosocomial D003428||nosocomial infection D003428||nosocomial infections D053608||stupor D053608||narcosis D004753||enteritis transmissible of turkeys D004753||bluecomb of turkeys D004753||transmissible enteritis of turkeys C563663|610798||immunodeficiency due to defect in mapbp interacting protein D003424||crohn disease D003424||colitis granulomatous D003424||crohn apos s disease D003424||crohns disease D003424||crohn apos s enteritis D003424||enteritis granulomatous D003424||enteritis regional D003424||granulomatous colitis D003424||granulomatous enteritis D003424||ileitis regional D003424||ileitis terminal D003424||ileocolitis D003424||regional enteritis D003424||regional ileitides D003424||regional ileitis D003424||terminal ileitis D004751||enteritis D004751||enteritides D003420||crisscross heart D003420||criss cross heart D003420||criss cross hearts D003420||crisscross hearts D003420||heart crisscross D003420||heart criss cross D003420||hearts crisscross D003420||hearts criss cross 612852||osteomyelitis sterile multifocal with periostitis and pustulosis 612852||dira 612852|C557815||interleukin 1 receptor antagonist deficiency 612852||ompp C563435|600881||cataract congenital zonular with sutural opacities C563435|600881||cataract 10 multiple types C563435|600881||cczs C563435|600881||ctrct10 D016736||antiphospholipid syndrome D016736||antibody syndrome antiphospholipid D016736||antibody syndrome anti phospholipid D016736||antiphospholipid antibody syndrome D016736||anti phospholipid antibody syndrome D016736||antiphospholipid antibody syndromes D016736||anti phospholipid syndrome D016736||syndrome antiphospholipid D016736||syndrome anti phospholipid D016736||syndrome antiphospholipid antibody D016736||syndrome anti phospholipid antibody D015408||gastrinoma D015408||gastrinomas D015408||gastrin producing tumor D015408||gastrin producing tumors D015408||islet cell tumor ulcerogenic D015408||tumor gastrin producing D015408||tumors gastrin producing D015408||ulcerogenic islet cell tumor D016731||erythema infectiosum D016731||fifth disease C567706|613211||amelogenesis imperfecta hypomaturation type iia3 C567706|613211||ai2a3 C535571||cantu sanchez corona fragoso syndrome C535571||severe mental deficiency proportionate dwarfism and delayed sexual maturation C566856|613697||cardiomyopathy dilated 1v C566856|613697||cmd1v C535570||acalvaria 159000|C535906||muscular dystrophy limb girdle type 1a 159000|C535906||lgmd1 159000|C535906||lgmd1a 159000|C535906||muscular dystrophy limb girdle type1a 159000|C535906||muscular dystrophy proximal type 1a C535573||capillary leak syndrome with monoclonal gammopathy C535573||periodic systemic capillary leak syndrome C535572||cantu syndrome C535572||hypertrichosis osteochondrodysplasia cardiomegaly syndrome C535572||hypertrichotic osteochondrodysplasia C535574||carbamoyl phosphate synthase 1 deficiency 202200|C565974||familial glucocorticoid deficiency 1 202200|C565974||acth resistance 202200|C565974||adrenal unresponsiveness to acth 202200|C565974||fgd1 202200|C565974||gccd1 202200|C565974||glucocorticoid deficiency 1 C536181|300291||ectodermal dysplasia hypohidrotic with immune deficiency C536181|300291||ectodermal dysplasia anhidrotic with immune deficiency C536181|300291||eda id included C536181|300291||hed id ectodermal dysplasia anhidrotic with immune deficiency included C536181|300291||hyper igm immunodeficiency x linked with hypohidrotic ectodermal dysplasia included C536181|300291||xhm ed included D016706||still apos s disease adult onset D016706||adult onset still disease D016706||adult onset still apos s disease D016706||adult onset stills disease D016706||still disease adult onset D016706||stills disease adult onset C565249|606217||atrioventricular septal defect partial with heterotaxy syndrome C565249|606217||atrioventricular septal defect susceptibility to 2 avsd2 atrioventricular septal defect partial with heterotaxy syndrome C565249|606217|C567485|300123|C567429|612069|C537139|600376|606346||included C536898||thrombocytopenia robin sequence C536898||braddock carey syndrome C535566||absent corpus callosum cataract immunodeficiency C535566||vici syndrome C536899||thrombocytopenia cyclic C535565||absent breasts and nipples C535565||athelia C535565||complete absence of breasts C536896||tamari goodman syndrome C536896||congenital heart disease radio ulnar synostos mental retardation C536896||upper limb cardiovascular syndromes C536897||tang hsi ryu syndrome C536897||ascitis splenomegaly lymphadenopathy C536897||polyneuropathy hepatosplenomegaly hyperpigmentation C536897||syndrome of polyneuropathy skin hyperpigmentation oedema and hepatosplenomegaly C535567||absent duct of santorini C535567||absent accessory pancreatic duct of santorini D010520|170650||aggressive periodontitis D010520|170650||circumpubertal periodontitis D010520|170650||early onset periodontitis D010520|170650||jp D010520|170650|239000||jpd D010520|170650||juvenile periodontitis D010520|170650||periodontitis aggressive D010520|170650||periodontitis aggressive 1 D010520|170650||periodontitis circumpubertal D010520|170650||periodontitis juvenile D010520|170650||periodontitis prepubertal D010520|170650||periodontoses D010520|170650||periodontosis D010520|170650||ppp D010520|170650||prepubertal periodontitis C563475|167400||paroxysmal extreme pain disorder C563475|167400||familial rectal pain C563475|167400||pain submandibular ocular and rectal with flushing C563475|167400||pain submandibular ocular wnd rectal with flushing C563475|167400||pepd C563475|167400||pexpd C563475|167400||rectal pain familial C563475|167400||submandibular ocular and rectal pain with flushing C535569||abuse dwarfism syndrome C535569||child abuse dwarfism C535569||psychosocial dwarfism C535580||najjar syndrome C535580||cardiogenital syndrome C535580||genital anomaly with cardiomyopathy C567651|613307||deafness autosomal recessive 79 C567651|613307||dfnb79 D003409||congenital hypothyroidism D003409||cretinism D003409||cretinism endemic D003409||endemic cretinism D003409||fetal iodine deficiency disorder D003409||hypothyroidism congenital D003409||myxedema congenital D053627||asthenozoospermia 604117|C565826||vohwinkel syndrome variant form 604117|C565826||loricrin keratoderma 604117|C565826||mutilating keratoderma with ichthyosis 604117|C565826||vohwinkel syndrome with ichthyosis C535582||cardiomyopathy hypogonadism collagenoma syndrome 204200|D009472||neuronal ceroid lipofuscinoses 204200|D009472||adult neuronal ceroid lipofuscinosis 204200|D009472||amaurotic idiocy adult type 204200|D009472||batten disease 204200|D009472||batten disease juvenile 204200|D009472||batten diseases juvenile 204200|D009472||batten mayou disease 204200|D009472||batten spielmeyer vogt disease 204200|D009472||cerebroretinal degeneration juvenile 204200|D009472||cerebroretinal degenerations juvenile 204200|D009472||ceroid lipofuscinoses cln3 related neuronal 204200|D009472||ceroid lipofuscinosis cln3 related neuronal 204200|D009472||ceroid lipofuscinosis neuronal 204200|D009472||ceroid lipofuscinosis neuronal 3 204200|D009472||ceroid lipofuscinosis neuronal 3 juvenile 204200|D009472||ceroid lipofuscinosis neuronal 4 204200|D009472||ceroid lipofuscinosis neuronal 4a autosomal recessive 204200|D009472||ceroid lipofuscinosis neuronal 4b autosomal dominant 204200|D009472||ceroid lipofuscinosis neuronal parry type 204200|D009472||ceroid storage disease 204200|D009472||ceroid storage diseases 204200|D009472||cln3 204200|D009472||cln3 related neuronal ceroid lipofuscinoses 204200|D009472||cln3 related neuronal ceroid lipofuscinosis 204200|D009472||cln4a 204200|D009472||cln4as 204200|D009472||cln4b 204200|D009472||cln4bs 204200|D009472||disease ceroid storage 204200|D009472||disease juvenile batten 204200|D009472||disease kuf apos s 204200|D009472||disease lipofuscin storage 204200|D009472||diseases ceroid storage 204200|D009472||diseases juvenile batten 204200|D009472||diseases kuf apos s 204200|D009472||diseases lipofuscin storage 204200|D009472||disease spielmeyer sjogren 204200|D009472||diseases spielmeyer sjogren 204200|D009472||diseases vogt spielmeyer 204200|D009472||disease vogt spielmeyer 204200|D009472||infantile neuronal ceroid lipofuscinosis 204200|D009472||jansky bielschowsky disease 204200|D009472||jncl 204200|D009472||juvenile batten disease 204200|D009472||juvenile batten diseases 204200|D009472||juvenile cerebroretinal degeneration 204200|D009472||juvenile cerebroretinal degenerations 204200|D009472||juvenile neuronal ceroid lipofuscinosis 204200|D009472||kuf disease 204200|D009472||kuf apos s disease 204200|D009472||kufs disease 204200|D009472||kufs disease autosomal dominant 204200|D009472||kufs disease autosomal recessive 204200|D009472||kuf apos s diseases 204200|D009472||kufs type neuronal ceroid lipofuscinosis 204200|D009472||late infantile neuronal ceroid lipofuscinosis 204200|D009472||lipofuscinosis neuronal ceroid 204200|D009472||lipofuscin storage disease 204200|D009472||lipofuscin storage diseases 204200|D009472||neuronal ceroid lipofuscinoses cln3 related 204200|D009472||neuronal ceroid lipofuscinosis 204200|D009472||neuronal ceroid lipofuscinosis adult 204200|D009472||neuronal ceroid lipofuscinosis adult type 204200|D009472||neuronal ceroid lipofuscinosis cln3 related 204200|D009472||neuronal ceroid lipofuscinosis infantile 204200|D009472||neuronal ceroid lipofuscinosis juvenile 204200|D009472||neuronal ceroid lipofuscinosis juvenile type 204200|D009472||neuronal ceroid lipofuscinosis late infantile 204200|D009472||santavuori haltia disease 204200|D009472||spielmeyer disease vogt 204200|D009472||spielmeyer sjogren disease 204200|D009472||spielmeyer sjogren diseases 204200|D009472||spielmeyer vogt disease 204200|D009472||storage disease ceroid 204200|D009472||storage disease lipofuscin 204200|D009472||storage diseases ceroid 204200|D009472||storage diseases lipofuscin 204200|D009472||vogt spielmeyer disease 204200|D009472||vogt spielmeyer diseases C535584||cardiomyopathy infantile histiocytoid C535584||cardiomyopathy focal lipid C535584||cardiomyopathy infantile xanthomatous C535584||cardiomyopathy oncocytic C535584||foamy myocardial transformation of infancy C535584||focal lipid cardiomyopathy C535584||infantile xanthomatous cardiomyopathy C535584||oncocytic cardiomyopathy C535586||carnevale syndrome C535586||carnevale krajewska fischetto syndrome C535586||oculo skeletal abdominal syndrome C535586||ptosis of eyelids with diastasis recti and hip dysplasia C535585||carnevale hernandez castillo syndrome C535585||triphalyngeal thumbs and brachyectrodactyly C566914|611571||otosclerosis 4 C566914|611571||otsc4 C535577||cardioauditory syndrome of sanchez cascos C535577||sanchez cascos cardioauditory syndrome D016710||yin deficiency D016710||deficiency yin D016710||hsu yin D016710||xu yin D016710||yin deficiencies D016710||yin hsu D016710||yinxu D016710||yin xu D016711||yang deficiency D016711||deficiency yang D016711||hsu yang D016711||xu yang D016711||yang hsu D016711||yangxu D016711||yang xu C535578||cardiocranial syndrome C535578||pfeiffer cardiocranial syndrome C535578||pfeiffer singer zschiesche syndrome C535578||pfeiffer syndrome 2 C535578||pfeiffer type cardiocranial syndrome C565737|604901||north american indian childhood cirrhosis C565737|604901||naic C535591||chromosome 1 monosomy 1p C535591||deletion 1p C535591||monosomy 1p C535590||carrington syndrome C535590||carrington apos s disease C535590||carrington apos s pulmonary eosinophilia C535590||chronic eosinophilic pneumonia cep C535590||chronic idiopathic eosinophilic pneumonia C535590||eosinophilic idiopathic chronic pneumopathy C535593||chromosome 1 monosomy 1p31 p22 C535593||deletion 1p31 p22 C535593||monosomy 1p31 p22 D054969||primary dysautonomias D054969||dysautonomia D054969||dysautonomia primary D054969||dysautonomias D054969||dysautonomias primary D054969||primary dysautonomia C567588|300778||corneal dystrophy lisch epithelial C567588|300778||band shaped and whorled microcystic corneal epithelial dystrophy C567588|300778||lecd C567588|300778||lisch epithelial corneal dystrophy C535592||chromosome 1 monosomy 1p22 p13 C535592||deletion 1p22 p13 C535592||monosomy 1p22 p13 C535595||chromosome 1 monosomy 1p34 p32 C535595||deletion 1p34 p32 C535595||monosomy 1p34 p32 D004701||endocrine gland neoplasms D004701||cancer endocrine D004701||cancer endocrine gland D004701||cancer of endocrine gland D004701||cancer of the endocrine gland D004701||cancers endocrine D004701||carcinoma endocrine gland D004701||carcinoma of endocrine gland D004701||endocrine cancer D004701||endocrine cancers D004701||endocrine gland cancer D004701||endocrine gland carcinoma D004701||endocrine gland neoplasm D004701||neoplasm endocrine gland D004701||neoplasms endocrine gland C535594||chromosome 1 monosomy 1p32 C535594||deletion 1p32 C535594||monosomy 1p32 C535597||craniotelencephalic dysplasia C535597||complex of anomalies involving the cranium and brain C535596||chromosome 1 monosomy 1q25 q32 C535596||deletion 1q25 q32 C535596||monosomy 1q25 q32 D004700||endocrine system diseases D004700||disease endocrine D004700||disease endocrine system D004700||diseases endocrine D004700||diseases endocrine system D004700||diseases of endocrine system D004700||endocrine disease D004700||endocrine diseases D004700||endocrine system disease D004700||system disease endocrine D004700||system diseases endocrine C537465|300166||microphthalmia syndromic 2 C537465|300166||anop2 formerly C537465|300166||cataracts microphthalmia radiculomegaly and septal heart defects C537465|300166||maa2 formerly C537465|300166||marashi gorlin syndrome C537465|300166||mcops2 C537465|300166||microphthalmia cataracts radiculomegaly and septal heart defects C537465|300166||oculo facio cardio dental syndrome C537465|300166||oculofaciocardiodental syndrome C537465|300166||ofcd syndrome C535589||carnitine palmitoyl transferase 2 deficiency C535589||carnitine palmitoyltransferase 2 deficiency C535589||carnitine palmitoyltransferase deficiency type 2 C535589||carnitine palmitoyltransferase ii deficiency C535589||cpt2 deficiency C535589||cpt ii deficiency C535589||muscle form of carnitine palmitoyltransferase deficiency 182000|D017492||keratosis seborrheic 182000|D017492||keratoses seborrheic 182000|D017492||keratosis seborrheica 182000|D017492||seborrheic keratoses 182000|D017492||seborrheic keratosis D004716||endometritis D004716||endomyometritis C567554|612841||hypotrichosis 5 C567554|612841||hypt5 C567554|612841||marie unna hereditary hypotrichosis 2 C567554|612841||muhh2 D004719||endomyocardial fibrosis D004719||endomyocardial fibroses D004719||fibroses endomyocardial D004719||fibrosis endomyocardial D004714||endometrial hyperplasia D004714||atypical endometrial hyperplasia D004714||atypical endometrial hyperplasias D004714||complex endometrial hyperplasia D004714||complex endometrial hyperplasias D004714||endometrial hyperplasia atypical D004714||endometrial hyperplasia complex D004714||endometrial hyperplasias D004714||endometrial hyperplasias atypical D004714||endometrial hyperplasias complex D004714||endometrial hyperplasia simple D004714||endometrial hyperplasias simple D004714||hyperplasia atypical endometrial D004714||hyperplasia complex endometrial D004714||hyperplasia endometrial D004714||hyperplasias atypical endometrial D004714||hyperplasias complex endometrial D004714||hyperplasias endometrial D004714||hyperplasia simple endometrial D004714||hyperplasias simple endometrial D004714||simple endometrial hyperplasia D004714||simple endometrial hyperplasias 201300|C567738|613115||neuropathy hereditary sensory and autonomic type iia 201300|C567738|613115||hsan2a 201300|C567738|613115||hsan iia 201300|C567738|613115||hsn2a 201300|C567738|613115||hsn iia 201300|D013595||morvan disease 201300|C567738|613115||neuropathy hereditary sensory type iia D054970||pure autonomic failure D054970||autonomic failure pure D054970||bradbury eggleston syndrome D054970||syndrome bradbury eggleston C566239|108800||atrial septal defect 1 C566239|108800||asd1 C566239|108800||asd ii included C566239|108800||asd i included C566239|108800||atrial septal defect primum type included C566239|108800||atrial septal defect secundum type included D019851|188050||thrombophilia D019851|188050||hypercoagulabilities D019851|188050||hypercoagulability D019851|188050||thph1 D019851|188050||thrombophilia due to factor 2 defect D019851|188050||thrombophilia due to thrombin defect D019851|188050||thrombophilias D019851|188050||venous thromboembolism thrombosis protection against included D019851|188050|D020246||venous thrombosis D054973||perivascular epithelioid cell neoplasms D054973||ccmmt D054973||clear cell myomelanocytic tumor D054973||clear cell myomelanocytic tumors D054973||clear cell sugar tumor D054973||clear cell sugar tumors D054973||myomelanocytic tumor clear cell D054973||myomelanocytic tumors clear cell D054973||neoplasms perivascular epithelioid cell D054973||pecoma D054973||pecomas D054973||perivascular epithelioid cell tumors D054973||sugar tumor clear cell D054973||sugar tumors clear cell D054973||tumor clear cell myomelanocytic D054973||tumor clear cell sugar D054973||tumors clear cell myomelanocytic D054973||tumors clear cell sugar C537734|164280||oculodigitoesophagoduodenal syndrome C537734|164280||brunner winter syndrome C537734|164280||digital anomalies with short palpebral fissures and atresia of esophagus or duodenum C537734|164280||feingold syndrome C537734|164280||feingold syndrome 1 C537734|164280||fglds1 C537734|164280||microcephaly and digital abnormalities with normal intelligence C537734|164280||microcephaly mental retardation and tracheoesophageal fistula syndrome C537734|164280||microcephaly mesobrachyphalangy tracheoesophageal fistula mmt syndrome C537734|164280||microcephaly oculo digito esophageal duodenal moded syndrome C537734|164280||microcephaly oculo digito esophageal duodenal syndrome C537734|164280||mmt syndrome C537734|164280||moded C537734|164280||oculo digito esophagoduodental oded syndrome C537734|164280||oded C537734|164280||oded syndrome D054972||postural orthostatic tachycardia syndrome D054972||postural tachycardia syndrome D054972||syndrome postural tachycardia D054972||tachycardia syndrome postural C564099||mental retardation with spastic paraplegia 238600||hyperlipoproteinemia type i lipoprotein lipase deficiency 238600|207750|D008072||lpl deficiency 238600|207750|D008072||hyperchylomicronemia familial 238600|207750|D008072||hyperlipemia idiopathic burger grutz type 238600|207750|D008072||hyperlipemia essential familial 238600|207750|D008072||lipase d deficiency 238600|207750|D008072||lipd deficiency 238600|207750|D008072||hyperlipoproteinemia type ia 238600|207750|D008072||chylomicronemia familial C535530||interferon gamma receptor 1 deficiency C576084||bleeding disorder due to p2rx1 defect C538361|267500||reticular dysgenesis C538361|267500||aleukocytosis C538361|267500||congenital aleukia C538361|267500||devaal disease C538361|267500||de vaal disease C538361|267500||hematopoietic hypoplasia generalized C538361|267500||immunoerythromyeloid hypoplasia C538361|267500||reticular dysgenesia C538361|267500||severe combined immunodeficiency with leukopenia C536970|314300||torticollis keloids cryptorchidism renal dysplasia C536970|314300||goeminne syndrome C536970|314300||tkc C536970|314300||tkcr C536970|314300||tkcr syndrome C536970|314300||torticollis keloids cryptorchidism and renal dysplasia C537404|262400||pituitary dwarfism 1 C537404|262400||growth hormone deficiency isolated autosomal recessive C537404|262400||ighd1a C537404|262400||ighd ia C537404|262400||illig type growth hormone deficiency C537404|262400||isolated growth hormone deficiency type 1b C537404|262400||isolated growth hormone deficiency type ia C537404|262400||nanism due to growth hormone isolated deficiency C537404|262400||pituitary dwarfism i C537404|262400||primordial dwarfism C537404|262400||sexual ateleiotic dwarfism D012779|263520||short rib polydactyly syndrome D012779|263520||majewski syndrome D012779|263520||polydactyly with neonatal chondrodystrophy type 1 D012779|263520||polydactyly with neonatal chondrodystrophy type 2 D012779|263520||polydactyly with neonatal chondrodystrophy type ii D012779|263520||short rib polydactyly syndrome majewski type D012779|263520||short rib polydactyly syndromes D012779|263520||short rib polydactyly syndrome saldino noonan type D012779|263520||short rib polydactyly syndrome type 1 D012779|263520||short rib polydactyly syndrome type ii D012779|263520||short rib polydactyly syndrome type iia D012779|263520||short rib thoracic dysplasia 6 with or without polydactyly D012779|263520||srps2a D012779|263520||srps type ii D012779|263520||srtd6 D012779|263520||syndrome majewski D012779|263520||syndrome saldino noonan D012779|263520||syndrome short rib polydactyly C536855||fanconi like syndrome D053653||pyelocystitis D053653||cystopyelitis C536852||familial streblodactyly C536852||crooked little finger familial C536852||minor streblomicrodactyly familial C535524||infantile polymyoclonus C535524||polymyoclonus infantile C535523||infantile onset spinocerebellar ataxia C535523|271245||ohaha syndrome C535523|271245||ophthalmoplegia hypotonia ataxia hypacusis and athetosis C535523|271245||spinocerebellar ataxia infantile with sensory neuropathy C535526||infection with mycobacterium marinum C535526||fish tank granuloma C535526||mycobacterium marinum infection D054989||nephrogenic fibrosing dermopathy D054989||dermopathies nephrogenic fibrosing D054989||dermopathy nephrogenic fibrosing D054989||fibroses nephrogenic systemic D054989||fibrosing dermopathies nephrogenic D054989||fibrosing dermopathy nephrogenic D054989||fibrosis nephrogenic systemic D054989||nephrogenic fibrosing dermopathies D054989||nephrogenic systemic fibroses D054989||nephrogenic systemic fibrosis D054989||systemic fibroses nephrogenic D054989||systemic fibrosis nephrogenic D054988||idiopathic interstitial pneumonias D054988||idiopathic interstitial pneumonia D054988||interstitial pneumonia idiopathic D054988||interstitial pneumonias idiopathic D054988||pneumonia idiopathic interstitial D054988||pneumonias idiopathic interstitial C535528||infundibulopelvic dysgenesis 605711||multiple mitochondrial dysfunctions syndrome 1 605711||mmds 605711||mmds1 C563888|608645||deafness autosomal dominant 31 C563888|608645||dfna31 C536873||spastic paraplegia with kallmann syndrome C536873||familial spastic paraplegia with kallmann apos s syndrome C536873||kallmann syndrome with spastic paraplegia C536873||spastic paraplegia kallmann syndrome C536870||spastic paraplegia neuropathy poikiloderma C536870||familial spastic paraplegia with neuropathy and poikiloderma C536870||spastic paraplegia with neuropathy and poikiloderma C535542||isotretinoin embryopathy like syndrome C535542||isotretinoin teratogen syndrome C535542||microtia aortic arch syndrome C535542||syndrome of microtia and aortic arch anomalies D058747|214800||charge syndrome D058747|214800||association charge D058747|214800||associations charge D058747|214800||charge association D058747|214800||charge association coloboma heart anomaly choanal atresia retardation genital and ear anomalies D058747|214800||charge associations D058747|214800||charge syndrome familial D058747|214800||charge syndromes D058747|214800||charge syndromes familial D058747|214800||familial charge syndrome D058747|214800||familial charge syndromes D058747|214800||hall hittner syndrome D058747|214800||syndrome charge D058747|214800||syndrome hall hittner 164160||leptin 164160||lep obese mouse homolog of 164160||ob 214300|C536888||klippel feil syndrome recessive type 214300|C536888||cervical vertebral fusion autosomal recessive 214300|C536888||kfs2 214300|C536888||kfs autosomal recessive 214300|C536888||klippel feil syndrome 2 autosomal recessive 214300|C536888||klippel feil syndrome autosomal recessive 610297||parkinson disease 13 autosomal dominant susceptibility to 610297|C565204||park13 C536489|602083||usher syndrome type 1f C536489|602083||ush1f C536489|602083|C566586||usher syndrome type if C548841||parasitic infection caused by dracunculus medinensis C535533||intrahepatic cholangiocarcinoma C563020|105580||anal canal carcinoma C563020|105580||cloacogenic carcinoma included C535534||iridogoniodysgenesis and skeletal anomalies C536869||spastic paraplegia epilepsy mental retardation C536869||spastic paraplegia epilepsy and mental retardation C535537||iris dysplasia hypertelorism deafness C565533|233690||granulomatous disease chronic autosomal recessive cytochrome b negative C565533|233690||cgd autosomal recessive cytochrome b negative C565533|233690||cgd due to deficiency of the alpha subunit of cytochrome b C565533|233690||chronic granulomatous disease autosomal recessive cytochrome b negative C565533|233690||chronic granulomatous disease due to deficiency of the alpha subunit of cytochrome b C565533|233690||cyba deficiency C535539||irons bhan syndrome C535539||autosomal recessive syndrome of lymphedema hydroceles atrial septal defect and characteristic facial changes C535539||lymphedema atrial septal defect and characteristic facial changes C564078||pierre robin sequence with facial and digital anomalies 300559|C564485||glycogen storage disease type ixd 300559|C564485||gsd9d 300559|C564485||gsd ixd 300559|C564485||muscle glycogenosis x linked 300559|C564485||muscle phosphorylase kinase deficiency C536883||king denborough syndrome C536883||anesthetic induced malignant hyperpyrexia in children C536883||king syndrome C535551||pemphigus and fogo selvagem C535551||brazilian pemphigus C535551||brazilian pemphigus foliaceus C535551||endemic pemphigus foliaceus C535551||south american pemphigus C536884||kleeblattschaedel syndrome C536884||cloverleaf skull syndrome C536884||kleeblattschaedel deformity syndrome 305100|D053358||ectodermal dysplasia 1 anhidrotic 305100|D053358||anhidrotic ectodermal dysplasia x linked 305100|D053358||anhydrotic ectodermal dysplasia x linked 305100|D053358||christ siemens touraine syndrome 305100|D053358||cst syndrome 305100|D053358||cst syndromes 305100|D053358||dysplasia 1 ectodermal 305100|D053358||ectd1 305100|D053358||ectodermal dysplasia 1 305100|D053358||ectodermal dysplasia 1 anhydrotic 305100|D053358||ectodermal dysplasia 1 hypohidrotic hair tooth type x linked 305100|D053358||ectodermal dysplasia 1 hypohidrotic x linked 305100|D053358||ectodermal dysplasia 1s 305100|D053358||ectodermal dysplasia anhidrotic x linked 305100|D053358||ectodermal dysplasia hypohidrotic 1 305100|D053358||ectodermal dysplasia hypohidrotic x linked 305100|D053358||ectodermal dysplasia hypohydridic x linked 305100|D053358||ed1 305100|D053358||eda1 305100|D053358||hed1 305100|D053358||hypohidrotic ectodermal dysplasia 305100|D053358||syndrome cst 305100|D053358||syndromes cst 305100|D053358||xhed 305100|D053358||xlhed 305100|D053358||x linked hypohydridic ectodermal dysplasia C535550|260660||pelviscapular dysplasia C535550|260660||cousin syndrome C535550|260660||craniofacial dysmorphism hypoplasia of scapula and pelvis and short stature C535550||pelvic shoulder dysplasia C536881||spinal muscular atrophy ryukyuan type C536881||ryukyuan muscular atrophy C535553||abdominal cystic lymphangioma C535553||abdominal retroperitoneal lymphangioma C535553||retroperitoneal cystic lymphangioma C535552||abdominal chemodectomas with cutaneous angiolipomas C535552||chemodectoma intraabdominal with cutaneous angiolipomas C535552||familial abdominal chemodectomas with cutaneous angiolipomas C536582|203740||alpha ketoglutarate dehydrogenase deficiency C536582|203740||2 alpha ketoglutarate dehydrogenase deficiency C536582|203740||2 ketoglutarate dehydrogenase deficiency C536582|203740||alpha kgd deficiency C536582|203740||oxoglutaricaciduria C536582|203740||oxoglutaric aciduria C535750|608776||congenital disorder of glycosylation type 1l C535750|608776||cdg1l C535750|608776||cdgil C535750|608776||cdg il C535750|608776||congenital disorder of glycosylation type il D008268||macular degeneration D008268||age related macular degeneration D008268||age related macular degenerations D008268||age related maculopathies D008268||age related maculopathy D008268||degeneration age related macular D008268||degeneration macular D008268||degenerations age related macular D008268||degenerations macular D008268||dystrophies macular D008268||dystrophy macular D008268||macular degeneration age related D008268||macular degenerations D008268||macular degenerations age related D008268||macular dystrophies D008268||macular dystrophy D008268||maculopathies age related D008268||maculopathy age related D008275||magnesium deficiency D008275||deficiencies magnesium D008275||deficiency magnesium D008275||magnesium deficiencies C567059|610755||multiple endocrine neoplasia type iv C567059|610755||men4 C562618|612740||porphyria acute hepatic C562618|612740||alad deficiency C562618|612740||delta aminolevulinate dehydratase deficiency C562618|612740||doss porphyria C562618|612740||doss porphyria lead poisoning susceptibility to included C562618|612740||porphobilinogen synthase deficiency C562618|612740||porphyria alad 114550|D006528||carcinoma hepatocellular 114550|D006528||adult liver cancer 114550|D006528||adult liver cancers 114550|D006528||cancer adult liver 114550|D006528||cancers adult liver 114550|D006528||carcinoma liver cell 114550|D006528||carcinomas hepatocellular 114550|D006528||carcinomas liver cell 114550|D006528||cell carcinoma liver 114550|D006528||cell carcinomas liver 114550|D006528||hcc 114550|D006528||hepatoblastoma caused by somatic mutation included 114550|D006528||hepatocellular carcinoma 114550|D006528||hepatocellular carcinomas 114550|D006528||hepatoma 114550|D006528||hepatoma hepatoblastoma included 114550|D006528||hepatomas 114550|D006528||lcc 114550|D006528||liver cancer adult 114550|D006528||liver cancers adult 114550|D006528||liver cell carcinoma 114550|D006528||liver cell carcinoma adult 114550|D006528||liver cell carcinomas D008271||mycetoma D008271||actinomycetoma D008271||actinomycetomas D008271||eumycetoma D008271||eumycetomas D008271||foot madura D008271||madura foot D008271||maduromycoses D008271||maduromycosis D008271||mycetomas 607371|C537704||juvenile onset dystonia 607371|C537704||dystonia juvenile onset C536874||spastic paraplegia with precocious puberty C536874||familial spastic paraplegia mental retardation and precocious puberty C536874||precocious puberty with spastic paraplegia C562567|238320||leydig cell hypoplasia C562567|238320||46 xy disorder of sex development due to lh defects C562567|238320||hypergonadotropic hypogonadism male due to lhcgr defect C562567|238320||hypergonadotropic hypogonadism male due to lhcgr defect included C562567|238320||leydig cell agenesis C562567|238320||leydig cell agenesis leydig cell hypoplasia type ii included C562567|238320||leydig cell hypoplasia complete C562567|238320||leydig cell hypoplasia partial C562567|238320||leydig cell hypoplasia partial included C562567|238320||leydig cell hypoplasia type i C562567|238320||leydig cell hypoplasia type ii C562567|238320||leydig cell hypoplasia with male pseudohermaphroditism C562567|238320||lh resistance due to lh receptor deactivation C562567|238320||luteinizing hormone resistance female C562567|238320||luteinizing hormone resistance female included C562567|238320||male hypergonadotropic hypogonadism due to lhcgr defect 146510|D054975||pallister hall syndrome 146510|D054975||cave complex 146510|D054975||cave complices 146510|D054975||cerebroacrovisceral early lethality complex 146510|D054975||complex cave 146510|D054975||complices cave 146510|D054975||hall pallister syndrome 146510|D054975||hamartoblastoma syndrome hypothalamic 146510|D054975||hamartoblastoma syndromes hypothalamic 146510|D054975||hypothalamic hamartoblastoma hypopituitarism imperforate anus and postaxial polydactyly 146510|D054975||hypothalamic hamartoblastoma syndrome 146510|D054975||hypothalamic hamartoblastoma syndromes 146510|D054975||pallister hall syndrome 1 146510|D054975||phs 146510|D054975||phs1 146510|D054975||syndrome hall pallister 146510|D054975||syndrome hypothalamic hamartoblastoma 146510|D054975||syndrome pallister hall 146510|D054975||syndromes hypothalamic hamartoblastoma C536875||arrest of spermatogenesis C536875||spermatogenesis arrest C535548||pelvic dysplasia arthrogryposis of lower limbs C535548||pelvic hypoplasia with arthrogryposis of lower limbs C535548||pelvic hypoplasia with lower limb arthrogryposis C536878||spinal intradural arachnoid cysts C536878||arachnoid cysts spinal intradural D010585||phagocyte bactericidal dysfunction D010585||bactericidal dysfunction phagocyte D010585||bactericidal dysfunctions phagocyte D010585||dysfunction phagocyte bactericidal D010585||dysfunctions phagocyte bactericidal D010585||phagocyte bactericidal dysfunctions C535549||pelvic lipomatosis C564084||optic atrophy spastic paraplegia syndrome C536890||hemiplegic migraine familial type 1 C536890||migraine familial hemiplegic 1 with progressive cerebellar ataxia C535520|137920||renal cysts and diabetes syndrome C535520|137920||cakut with diabetes C535520|137920||congenital anomalies of the kidney and urinary tract with diabetes C535520|137920||fjhn atypical C535520|137920||glomerulocystic kidney disease hypoplastic type C535520|137920||glomerulocystic kidney familial hypoplastic C535520|137920||hyperuricemic nephropathy familial juvenile atypical C535520|137920||maturity onset diabetes of the young type 5 C535520|137920||mody5 C535520|137920||rcad D021921|185500||aortic stenosis supravalvular D021921|185500||aortic supravalvular stenoses D021921|185500||aortic supravalvular stenosis D021921|185500||stenoses aortic supravalvular D021921|185500||stenosis aortic supravalvular D021921|185500||stenosis supravalvular aortic D021921|185500||supravalvar aortic stenosis D021921|185500|C538461||supravalvar aortic stenosis eisenberg type D021921|185500||supravalvular aortic stenosis D021921|185500||supravalvular stenoses aortic D021921|185500||supravalvular stenosis aortic D021921|185500||svas C564088||nystagmus myoclonic C536894||talo patello scaphoid osteolysis synovitis and short fourth metacarpals C535562||absence of septum pellucidum C536895||talonavicular coalition C535561||congenital absence of gluteal muscles C536892||kaplan plauchu fitch syndrome C536892||acrocraniofacial dysostosis C535564||absence of tibia with polydactyly C535564||polydactyly with absent tibia C535564||tibia absence of with polydactyly C536893||kaplowitz bodurtha syndrome C536893||congenital hypopituitarism and microphthalmia C536893||hypopituitarism microphthalmia C535932|147480||intrahepatic cholestasis of pregnancy C535932|147480||cholestasis intrahepatic of pregnancy C535932|147480||cholestasis intrahepatic of pregnancy 1 C535932|147480||cholestasis pregnancy related C535932|147480||cholestasis pregnancy related 1 C535932|147480||familial intrahepatic cholestasis of pregnancy C535932|147480||familial recurrent intrahepatic cholestasis of pregnancy C535932|147480||icp1 C535932|147480||obstetric cholestasis C535932|147480||pregnancy related cholestasis C535932|147480||recurrent intrahepatic cholestasis of pregnancy C567234|612621||mental retardation autosomal dominant 5 C567234|612621||mrd5 C566394|603284||cerebral cavernous malformations 2 C566394|603284||ccm2 D008289||malaria avian D008289||avian malaria D008289||avian malarias D008289||malarias avian D008286||malabsorption syndromes D008286||malabsorption syndrome D008286||syndrome malabsorption D008286||syndromes malabsorption D008287||malacoplakia D008287||malacoplakias D008287||malakoplakia D008287||malakoplakias C564090||neuropathy hereditary sensory x linked D053682||tendon entrapment D053682||entrapments tendon D053682||entrapment tendon D053682||stenosing tendovaginitides D053682||stenosing tendovaginitis D053682||stenosing tenosynovitides D053682||stenosing tenosynovitis D053682||stenosing tenovaginitides D053682||stenosing tenovaginitis D053682||tendon entrapments D053682||tendovaginitides stenosing D053682||tendovaginitis stenosing D053682||tenosynovitides stenosing D053682||tenosynovitis stenosing D053682||tenovaginitides stenosing D053682||tenovaginitis stenosing C563838|608895||macular degeneration age related 3 C563838|608895||armd3 C535555||aberrant subclavian artery C535555||aberrant left subclavian artery C535555||aberrant right subclavian artery C536885||kleiner holmes syndrome C536885||hallux varus and preaxial polysyndactyly C535557||ablepharon macrostomia syndrome D053684||de quervain disease D053684||de quervain apos s disease D053684||de quervains disease D053684||de quervain stenosing tenosynovitis D053684||disease de quervain D053684||stenosing tenosynovitis de quervain D010591||phantom limb D010591||limb pain phantom D010591||limb pains phantom D010591||limb phantom D010591||limbs phantom D010591||pain phantom D010591||pain phantom limb D010591||pains phantom D010591||pains phantom limb D010591||phantom limb pain D010591||phantom limb pains D010591||phantom limbs D010591||phantom pain D010591||phantom pains D010591||phantom sensation D010591||phantom sensations D010591||pseudomelia D010591||pseudomelias D010591||sensation phantom D010591||sensations phantom C535559||abruzzo erickson syndrome C535559||charge like syndrome x linked C564098||modifier x linked for neurofunctional defects C564098||tourette syndrome modifier of C535558||abrikosov apos s tumor C535558||abrikosoff apos s granulous cell tumor C535558||abrikosoff apos s tumor C535558||giant granulo cellular abrikosov apos s tumor C535558||malignant variant of abrikosov apos s tumor C564097||muscular dystrophy hemizygous lethal type C536889||weber klippel trenaunay C564096||muscular dystrophy mabry type C537403|610954||pitt hopkins syndrome C537403|610954||encephalopathy severe epileptic with autonomic dysfunction C537403|610954||mental retardation syndromal with intermittent hyperventilation C537403|610954||pths 190440||trigonocephaly 1 190440||trigno1 C564095||muscular dystrophy progressive pectorodorsal C564095||muscular dystrophy progressive involving shoulder girdle and back C564058||turner syndrome associated neurocognitive phenotype C564056||split hand foot anomaly x linked C564056||split hand foot malformation x linked C565387||methylmalonyl coa epimerase deficiency with sepiapterin reductase deficiency D015325|312170||pyruvate dehydrogenase complex deficiency disease D015325|312170||ataxia intermittent with abnormal pyruvate metabolism D015325|312170||ataxia intermittent with pyruvate dehydrogenase deficiency D015325|312170||ataxia intermittent with pyruvate dehydrogenase or decarboxylase deficiency D015325|312170||ataxia with lactic acidosis D015325|312170||ataxia with lactic acidosis i D015325|312170||ataxia with lactic acidosis i lactic acidemia thiamine responsive included D015325|312170||ataxia with lactic acidosis type i D015325|312170||deficiency pdh D015325|312170||deficiency pdhc D015325|312170||deficiency pyruvate decarboxylase D015325|312170||deficiency pyruvate dehydrogenase D015325|312170||intermittent ataxia with pyruvate dehydrogenase deficiency D015325|312170||juvenile pyruvate dehydrogenase complex deficiency disease D015325|312170||lactic acidosis with ataxia type i D015325|312170||neonatal pyruvate dehydrogenase complex deficiency disease D015325|312170||pdhad D015325|312170||pdhc deficiency D015325|312170||pdhc deficiency disease D015325|312170||pdh deficiency D015325|312170||pyruvate decarboxylase deficiency D015325|312170||pyruvate dehydrogenase complex deficiency D015325|312170||pyruvate dehydrogenase complex deficiency disease juvenile D015325|312170||pyruvate dehydrogenase complex deficiency disease neonatal D015325|312170||pyruvate dehydrogenase deficiency D015325|312170|C564071||pyruvate dehydrogenase e1 alpha deficiency D015325|312170||type i ataxia with lactic acidosis C564697|606554||episodic ataxia type 3 C564697|606554||ataxia episodic with vertigo and tinnitus C564697|606554||ea3 C565754|604717||deafness autosomal dominant 20 C565754|604717||dfna20 C565754|604717||dfna26 C536818||giant mammary hamartoma C536818||giant hamartoma of the breast C536819||giant pigmented hairy nevus C536817||al gazali syndrome 611091|C567018||mental retardation autosomal recessive 5 611091|C567018||mrt5 C565393||3 methylglutaconic aciduria type iv C565393||mga4 C565393||mga type iv C536810||chromosome 3 monosomy 3q27 C536810||deletion 3q27 C536810||monosomy 3q27 C536811||chromosome 3 trisomy 3p C536811||duplication 3p C536811||trisomy 3p C565395||metaphyseal dysplasia anetoderma and optic atrophy C565396||metaphyseal dysostosis mental retardation and conductive deafness C535420|601382||charcot marie tooth disease type 4b1 C535420|601382||charcot marie tooth disease autosomal recessive with focally folded myelin sheaths autosomal recessive type 4b1 C535420|601382||charcot marie tooth disease type 4b C535420|601382||charcot marie tooth neuropathy type 4b1 C535420|601382||cmt4b C535420|601382||cmt4b1 C536814||distal arthrogryposis moore weaver type C536814||moore weaver syndrome C536859|270750||spastic paraplegia 23 C536859|270750||abdallat davis farrage syndrome C536859|270750||abdallat syndrome C536859|270750||lison syndrome C536859|270750||spastic paraparesis vitiligo premature graying characteristic facies C536859|270750||spastic paraplegia and pigmentary abnormalities C536859|270750||spastic paraplegia vitiligo premature graying and characteristic facies C536859|270750||spastic paraplegia with pigmentary abnormalities C536859|270750||spg23 C536812||chromosome 3 trisomy 3p25 C536812||duplication 3p25 C536812||trisomy 3p25 C564063||rett syndrome preserved speech variant D000326|300100||adrenoleukodystrophy D000326|300100|C538676||addison disease and cerebral sclerosis D000326|300100||adrenoleukodystrophy x linked D000326|300100||adrenomyeloneuropathy D000326|300100||ald D000326|300100||ald adrenoleukodystrophy D000326|300100||amn included D000326|300100|C538676||bronze schilder disease D000326|300100||melanodermic leukodystrophy adrenomyeloneuropathy included D000326|300100||schilder addison complex D000326|300100|C538676||siemerling creutzfeldt disease D000326|300100||x ald D000326|300100||x ald x linked adrenoleukodystrophy D000326|300100||x linked adrenoleukodystrophy C536813||chromosome 3 trisomy 3q C536813||duplication 3q C536813||trisomy 3q C567855|612940||cutis laxa autosomal recessive type iib C567855|612940||arcl2b C567855|612940||cutis laxa with progeroid features C564069||mental retardation x linked syndromic ube2a related C564066||radiation sensitivity of natural killer activity C564066||x ray nk sensitivity C565398||metaphyseal chondrodysplasia with retinitis pigmentosa C565399||metaphyseal chondrodysplasia pena type D010190|260350||pancreatic neoplasms D010190|260350||cancer of pancreas D010190|260350||cancer of the pancreas D010190|260350||cancer pancreas D010190|260350||cancer pancreatic D010190|260350||cancers pancreas D010190|260350||cancers pancreatic D010190|260350||neoplasm pancreas D010190|260350||neoplasm pancreatic D010190|260350||neoplasms pancreas D010190|260350||neoplasms pancreatic D010190|260350||pancreas cancer D010190|260350||pancreas cancers D010190|260350||pancreas neoplasm D010190|260350||pancreas neoplasms D010190|260350||pancreatic cancer D010190|260350||pancreatic cancers D010190|260350||pancreatic cancer susceptibility to 1 D010190|260350||pancreatic cancer susceptibility to 2 D010190|260350||pancreatic cancer susceptibility to 3 D010190|260350|C562463||pancreatic carcinoma D010190|260350||pancreatic neoplasm D010190|260350||pnca1 D010190|260350||pnca2 D010190|260350||pnca3 C537340|312870||simpson golabi behmel syndrome C537340|312870||bulldog syndrome C537340|312870||dgsx C537340|312870||dysplasia gigantism syndrome x linked C537340|312870||golabi rosen syndrome C537340|312870||mental retardation overgrowth syndrome C537340|312870||sdys C537340|312870||sgbs C537340|312870||sgbs1 C537340|312870||simpson dysmorphia syndrome C537340|312870||simpson dysplasia syndrome C537340|312870||simpson golabi behmel syndrome type 1 C537340|312870||simpson syndrome 609261|C563756||stuttering familial persistent 2 609261||stut2 C563865|608758||cardiomyopathy familial hypertrophic 10 C563865|608758||cardiomyopathy hypertrophic mid left ventricular chamber type 2 C563865|608758||cmh10 611588||muscular dystrophy dystroglycanopathy limb girdle type c 4 611588||mddgc4 310400||myopathy centronuclear x linked 310400||cnmx 310400||mtm1 310400||mtmx 310400|C538647||myotubular myopathy x linked D008260||macroglossia D008260||macroglossias 610251||alcohol sensitivity acute 610251||hangover susceptibility to included C536821||gigantomastia C536821||gestational gigantomastia C536821||gigantomastia juvenile C536821||hypertrophy of the breast juvenile C536821||juvenile gigantomastia C536821||macromastia 276902||usher syndrome type iiia 276902||ush3 276902||ush3a C564072||multiple pterygium syndrome x linked C564072||pterygium syndrome multiple x linked C564071||lactic acidemia thiamine responsive C536820||giedion syndrome C536820||trichorhinophalangeal dysplasia 1 C536820|190350||trichorhinophalangeal syndrome type i C536820||trichorhinophalangeal trp syndrome 1 C536825||glomerulonephritis sparse hair telangiectases C536825||cutaneous telangiectasia sparse hair and membranoproliferative glomerulonephritis C536825||glomerulonephritis with sparse hair and telangiectases C536825||telangiectatic membranoproliferative glomerulonephritis C564076||properdin deficiency type iii C564075||properdin deficiency type ii C536823||glassy cell carcinoma of the cervix C536823||glassy cell adenocarcinoma of the uterine cervix C537406|259450||bruck syndrome 1 C537406|259450||brks1 C537406|259450|C537407|609220||osteogenesis imperfecta with congenital joint contractures C564036||mental retardation x linked 89 C564034||hodgkin disease y linked pseudoautosomal C564033||incomplete sertoli cell only syndrome C562839|156240||mesothelioma malignant C562839|156240||mesom C565365|253260|D028921||multiple carboxylase deficiency juvenile onset C536840||aplasia cutis congenita of limbs recessive C536840||congenital absence of skin on the upper or lower limbs C536840||recessive aplasia cutis congenita of the limbs C565366||mucus inspissation of respiratory tract C564038||neuroacanthocytosis mcleod type C564038|300842||mcleod syndrome C535499|608105||epilepsy rolandic with paroxysmal exercise induced dystonia and writer apos s cramp C535499|608105||eprpdc C535499|608105||re ped wc C536025|154780||marshall syndrome C536025|154780||deafness myopia cataract saddle nose marshall type C536025|154780||mrshs 610239||high density lipoprotein cholesterol level quantitative trait locus 4 610239||hdlcq4 C535522|602066||infantile convulsions and paroxysmal choreoathetosis familial C535522|602066||convulsions familial infantile with paroxysmal choreoathetosis C535522|602066||convulsions infantile with paroxysmal choreoathetosis familial C535522|602066||icca C535522|602066||icca syndrome C535522|602066||paroxysmal kinesigenic dyskinesia with infantile convulsions C535522|602066||pkd ic C535508||ermine phenotype C535508||cutaneous albinism hermine phenotype C535508||o apos doherty syndrome C535508||pigmentary disorder with hearing loss D001321|209850||autistic disorder D001321|209850||asd included D001321|209850||autism D001321|209850||autism early infantile D001321|209850||autism infantile D001321|209850||autism related speech delay D001321|209850||autisms D001321|209850||autism spectrum disorder included D001321|209850||autism susceptibility to 10 D001321|209850||autism susceptibility to 11 D001321|209850||autism susceptibility to 12 D001321|209850||autism susceptibility to 13 D001321|209850||autism susceptibility to 14a included D001321|209850||autism susceptibility to 15 D001321|209850||autism susceptibility to 16 D001321|209850||autism susceptibility to 17 D001321|209850||autism susceptibility to 3 D001321|209850||autism susceptibility to 5 D001321|209850||autism susceptibility to 6 D001321|209850||autism susceptibility to 7 D001321|209850||autism susceptibility to 8 D001321|209850||autism susceptibility to 9 D001321|209850||autism with or without seizures D001321|209850||autistic disorder autism susceptibility to 1 included D001321|209850||auts10 D001321|209850||auts11 D001321|209850||auts12 D001321|209850||auts13 D001321|209850||auts14a included D001321|209850||auts15 D001321|209850||auts16 D001321|209850||auts17 D001321|209850||auts1 included D001321|209850||auts2 formerly D001321|209850||auts3 D001321|209850||auts4 included D001321|209850||auts5 D001321|209850||auts6 D001321|209850||auts7 D001321|209850||auts8 D001321|209850||auts9 D001321|209850||chromosome 15q11 2 duplication syndrome included D001321|209850|C557830||chromosome 15q11 q13 duplication syndrome D001321|209850||chromosome 16p11 2 deletion syndrome 593 kb D001321|209850||disorder autistic D001321|209850||disorders autistic D001321|209850||duplication 15q11 q13 syndrome autism susceptibility to 4 included D001321|209850||early infantile autism D001321|209850||infantile autism D001321|209850||infantile autism early D001321|209850||kanner apos s syndrome D001321|209850||kanners syndrome D001321|209850||kanner syndrome D001321|209850||phrase speech delay autism related D001321|209850||syndrome kanner apos s D008231||lymphopenia D008231||lymphocytopenia D008231||lymphocytopenias D008231||lymphopenias C536839||cardiac form of generalized glycogenosis C536839|D006009|232300||cardiomegalia glycogenica diffusa C536839|D006009|232300||glycogenosis generalized cardiac form C535509||erythema elevatum diutinum C535509||extracellular cholesterosis C535509||leukocytoclastic vasculitis D010547||persistent fetal circulation syndrome D010547||acd mpv D010547||circulation persistent fetal D010547||familial persistent pulmonary hypertension of the newborn D010547||fetal circulation persistent D010547||hypertension pulmonary of newborn persistent D010547||misalignment of the pulmonary vessels D010547||persistent fetal circulation D010547||persistent pulmonary hypertension of newborn D010547||pulmonary hypertension familial persistent of the newborn D055728|254450||primary myelofibrosis D055728|254450||agnogenic myeloid metaplasia D055728|254450||agnogenic myeloid metaplasias D055728|254450||bone marrow fibroses D055728|254450||bone marrow fibrosis D055728|254450||chronic idiopathic myelofibrosis D055728|254450||fibroses bone marrow D055728|254450||fibrosis bone marrow D055728|254450||idiopathic myelofibrosis D055728|254450||metaplasia agnogenic myeloid D055728|254450||metaplasia myeloid D055728|254450||metaplasias agnogenic myeloid D055728|254450||metaplasias myeloid D055728|254450||mmm included D055728|254450||myelofibroses D055728|254450||myelofibroses primary D055728|254450||myelofibrosis D055728|254450||myelofibrosis primary D055728|254450||myelofibrosis with myeloid metaplasia D055728|254450||myelofibrosis with myeloid metaplasia included D055728|254450||myeloid metaplasia D055728|254450||myeloid metaplasia agnogenic D055728|254450||myeloid metaplasias D055728|254450||myeloid metaplasias agnogenic D055728|254450||myeloscleroses D055728|254450||myelosclerosis D055728|254450||myeloses nonleukemic D055728|254450||myelosis nonleukemic D055728|254450||nonleukemic myeloses D055728|254450||nonleukemic myelosis D055728|254450||primary myelofibroses C567123|225250||hypothyroidism congenital nongoitrous 5 C567123|225250||chng5 D008230||lymphomatoid granulomatosis D008230||granulomatoses lymphomatoid D008230||granulomatosis lymphomatoid D008230||lymphomatoid granulomatoses C567356|612293||porokeratosis disseminated superficial actinic 3 C567356|612293||dsap3 C567356|612293||porok5 C567356|612293||porokeratosis 5 disseminated superficial actinic type C565371||monocyte chemotactic disorder 300578|C564481||chromosome xp11 3 deletion syndrome 300578|C564481||mental retardation x linked with retinitis pigmentosa C565373||molybdenum cofactor deficiency complementation group b C565374||molybdenum cofactor deficiency complementation group c C564603|607236||hypoprebetalipoproteinemia acanthocytosis retinitis pigmentosa and pallidal degeneration C564603|607236||harp syndrome C536831||glucose 6 phosphate translocase deficiency C536837||glyceraldehyde 3 phosphate dehydrogenase deficiency C564042||vesicoureteral reflux x linked C536834||glutaric aciduria 2 C536834||glutaric acidemia 2 a C564041||von willebrand disease x linked form C565370||monosomy 7 of bone marrow C565370||myelodysplasia and leukemia syndrome with monosomy 7 C564040||widow apos s peak syndrome C564040||widow apos s peak ptosis and skeletal anomalies C565379||microcephaly with chorioretinopathy autosomal recessive D016481|600263||helicobacter infections D016481|600263||helicobacter infection D016481|600263||helicobacter pylori infection susceptibility to D016481|600263||infection helicobacter D016481|600263||infections helicobacter C565376||mitochondrial myopathy with a defect in mitochondrial protein transport C536851||familial renal cell carcinoma C536851||familial renal carcinoma D007888|256000||leigh disease D007888|256000||disease leigh apos s D007888|256000||encephalomyelitides subacute necrotizing D007888|256000||encephalomyelitis subacute necrotizing D007888|256000||encephalomyelopathies subacute necrotizing D007888|256000||encephalomyelopathy subacute necrotizing D007888|256000||encephalopathies subacute necrotizing D007888|256000||encephalopathy subacute necrotizing D007888|256000||encephalopathy subacute necrotizing infantile D007888|256000||encephalopathy subacute necrotizing juvenile D007888|256000||infantile leigh disease D007888|256000||infantile subacute necrotizing encephalopathy D007888|256000||juvenile leigh disease D007888|256000||juvenile subacute necrotizing encephalopathy D007888|256000||leigh disease infantile D007888|256000||leigh disease juvenile D007888|256000||leigh apos s disease D007888|256000||leighs disease D007888|256000||leigh syndrome D007888|256000||leigh syndrome due to mitochondrial complex ii deficiency included D007888|256000||leigh syndrome due to mitochondrial complex iii deficiency included D007888|256000||leigh syndrome due to mitochondrial complex iv deficiency included D007888|256000||leigh syndrome due to mitochondrial complex v deficiency included D007888|256000||ls D007888|256000||necrotizing encephalomyelitides subacute D007888|256000||necrotizing encephalomyelitis subacute D007888|256000||necrotizing encephalomyelopathies subacute D007888|256000||necrotizing encephalomyelopathy subacute D007888|256000||necrotizing encephalopathies subacute D007888|256000||necrotizing encephalopathy infantile subacute of leigh sne leigh syndrome due to mitochondrial complex i deficiency included D007888|256000||necrotizing encephalopathy subacute D007888|256000||subacute necrotizing encephalomyelitides D007888|256000||subacute necrotizing encephalomyelitis D007888|256000||subacute necrotizing encephalomyelitis infantile D007888|256000||subacute necrotizing encephalomyelopathies D007888|256000||subacute necrotizing encephalomyelopathy D007888|256000||subacute necrotizing encephalopathies D007888|256000||subacute necrotizing encephalopathy D007888|256000||subacute necrotizing encephalopathy infantile D007888|256000||subacute necrotizing encephalopathy juvenile C564049||thyroxine binding globulin deficiency C565378||microphthalmia isolated with coloboma 4 C565378||mcopcb4 C565378||microphthalmia with colobomatous cyst C536561|602079||trimethylaminuria C536561|602079||fish malodor syndrome C536561|602079||fish odor syndrome C536561|602079||stale fish syndrome C536561|602079||tmau C536561|602079||tmauria 241550|D018636||hypoplastic left heart syndrome 241550|D018636||hlhs 241550|D018636||hlhs1 241550|D018636||hypoplastic left heart syndrome 1 241550|D018636||left heart hypoplasia syndrome 241550|D018636||left heart syndrome hypoplastic C564254|608354||capillary malformation arteriovenous malformation C564254|608354||capillary malformation arteriovenous malformation syndrome C564254|608354||capillary malformation without arteriovenous malformation C564254|608354||capillary malformation without arteriovenous malformation included C564254|608354||cm avm C564254|608354||cmavm D011885||radius fractures D011885||fracture radius D011885||fractures radius D011885||radius fracture D010554||personality disorders D010554||as if personality D010554||avoidant personality disorder D010554||avoidant personality disorders D010554||impulse ridden personality D010554||inadequate personality D010554||narcissistic personality disorder D010554||personality as if D010554||personality disorder D010554||personality disorder avoidant D010554||personality disorder narcissistic D010554||personality disorders avoidant D010554||personality impulse ridden D010554||personality inadequate C535519||reginato schiapachasse syndrome 300400|D053632||x linked combined immunodeficiency diseases 300400|D053632||cidx 300400|D053632||combined immunodeficiency x linked 300400|D053632||imd4 300400|D053632||imd6 300400|D053632||immunodeficiency 4 300400|D053632||immunodeficiency 6 300400|D053632||immunodeficiency diseases x linked 300400|D053632||immunodeficiency diseases x linked combined 300400|D053632||immunodeficiency disease x linked 300400|D053632||immunodeficiency syndromes x linked 300400|D053632||immunodeficiency syndrome x linked 300400|D053632||immunodeficiency x linked combined 300400|D053632||scids x linked 300400|D053632||scidx 300400|D053632||scidx1 300400|D053632||scid x linked 300400|D053632||severe combined immunodeficiency x linked 300400|D053632||severe combined immunodeficiency x linked t cell negative b cell positive nk cell negative 300400|D053632||syndromes x linked immunodeficiency 300400|D053632||xcid 300400|D053632||x linked combined immunodeficiencies 300400|D053632||x linked combined immunodeficiency 300400|D053632||x linked immunodeficiency disease 300400|D053632||x linked immunodeficiency diseases 300400|D053632||x linked immunodeficiency syndrome 300400|D053632||x linked immunodeficiency syndromes 300400|D053632||x linked scid 300400|D053632||x linked scids 300400|D053632||x linked severe combined immunodeficiency 300400|D053632||xscid 300400|D053632||x scid C536849||familial neurocardiogenic syncope C536849||familial vasovagal syncope C536849||syncope familial neurocardiogenic C536849||syncope familial vasovagal C535331|305400||aarskog syndrome C535331|305400||aarskog disease C535331|305400||aarskog like syndrome C535331|305400||aarskog scott syndrome C535331|305400||aarskog syndrome x linked faciogenital dysplasia with attention deficit hyperactivity disorder included C535331|305400||aas C535331|305400||facio digito genital dysplasia C535331|305400||faciodigitogenital syndrome C535331|305400||faciodigitogenital syndrome recessive C535331|305400||faciogenital dysplasia C535331|305400||fgdy C535331|305400||kuwait type faciodigitogenital syndrome C535331|305400||mental retardation x linked syndromic 16 included C535331|305400||mrxs16 included C535331|305400||scott aarskog syndrome D047808||adrenogenital syndrome D047808||adrenogenital syndromes D047808||syndrome adrenogenital D047808||syndromes adrenogenital C565382||microcephaly micromelia syndrome C535511||erythema nodosum idiopathic C535511||erythema nodosum of unknown etiology C535511||idiopathic erythema nodosum C535510||erythema nodosum familial C535510||familial erythema nodosum C565384||microcephaly primary autosomal recessive 1 C565384|251200||premature chromosome condensation syndrome C565384|251200||premature chromosome condensation with microcephaly and mental retardation C535513||lethal congenital erythroderma C535513||erythroderma lethal congenital C535512||erythroderma desquamativa of leiner C535512||erythroderma desquamativum of infancy C535512||generalized erythroderma diarrhea and failure to thrive C535512||leiner moussous desquamative erythroderma C536847||familial multiple trichodiscomas C536847||hereditary multiple trichodiscomas C536847||trichodiscomas familial multiple 300605|C564475||retinitis pigmentosa 34 300605|C564475||rp34 C535515||red skin pigment anomaly of new guinea C535515||red skin pigment new guinea type C564054||midline defects x linked C536848||familial myelofibrosis C564053||thrombocytopenia x linked intermittent C565380||ataxia telangiectasia variant v2 C536845||familial hypersecretion of adrenal androgens C536845||hypersecretion of adrenal androgens familial C535517||refsum disease with increased pipecolic acidemia C565381||microcephaly with chemotactic defect and transient hypogammaglobulinemia C536846||familial hypersensitivity pneumonitis C536846||hypersensitivity pneumonitis familial C535516||reed apos s syndrome C535516||cutaneous leiomyomata with uterine leiomyomata C535516|150800||hereditary leiomyomatosis and renal cell cancer C535516||leiomyoma hereditary multiple of skin C535516|150800||leiomyoma multiple cutaneous C535516|150800||leiomyomatosis and renal cell cancer hereditary C535516||multiple cutaneous and uterine leiomyomata 1 C535516||multiple cutaneous and uterine leiomyomatosis C564051||thrombocytopenia with elevated serum iga and renal disease C565226||hamartoma precalcaneal congenital fibrolipomatous C564600|607258||hypercalciuria absorptive 1 C564600|607258||hca1 C566559||plantar lipomatosis unusual facies and developmental delay 212050|C537979|613108||candidiasis familial 2 212050|C537979|613108||candf2 212050|C537979|613108||candidiasis familial chronic mucocutaneous autosomal recessive 212050||card9 immunodeficiency C566553||ectodermal dysplasia hidrotic autosomal recessive C565222||vasculitis lymphocytic cutaneous small vessel C566554||ichthyosis follicular atrophoderma hypotrichosis and hypohidrosis D060906||coxa valga D060906||acquired coxa valga D060906||acquired coxa valgas D060906||acquired coxa valgus D060906||congenital coxa valga D060906||congenital coxa valgas D060906||congenital coxa valgus D060906||coxa valga acquired D060906||coxa valga congenital D060906||coxa valga developmental D060906||coxa valgas D060906||coxa valgas acquired D060906||coxa valgas congenital D060906||coxa valgas developmental D060906||coxa valgus D060906||coxa valgus acquired D060906||coxa valgus congenital D060906||coxa valgus developmental D060906||developmental coxa valga D060906||developmental coxa valgas D060906||developmental coxa valgus D060906||valga coxa D060906||valgas coxa D060906||valgus coxa D060905||coxa vara D060905||acquired coxa vara D060905||acquired coxa varas D060905||acquired coxa varus D060905||congenital coxa vara D060905||congenital coxa varas D060905||congenital coxa varus D060905||coxa vara acquired D060905||coxa vara congenital D060905||coxa vara developmental D060905||coxa vara infantile D060905||coxa varas D060905||coxa varas acquired D060905||coxa varas congenital D060905||coxa varas developmental D060905||coxa varas infantile D060905||coxa varus D060905||coxa varus acquired D060905||coxa varus congenital D060905||coxa varus developmental D060905||developmental coxa vara D060905||developmental coxa varas D060905||developmental coxa varus D060905||infantile coxa vara D060905||infantile coxa varas D060905||vara coxa D060905||varas coxa D060905||varus coxa 128200|C566847||episodic kinesigenic dyskinesia 1 128200|C566847||dystonia 10 128200|C566847|C537180||dystonia familial paroxysmal 128200|C566847||dyt10 128200|C566847||ekd1 128200|C566847||familial paroxysmal kinesigenic dyskinesia 128200|C566847|C537180||paroxysmal kinesigenic choreoathetosis 128200|C566847||paroxysmal kinesigenic dyskinesia 128200|C566847||pkc 128200|C566847||pkd C579872||6q24 related transient neonatal diabetes mellitus C579872||6q24 tndm C579872||tndm type 1 D008325||mammary neoplasms experimental D008325||experimental mammary neoplasm D008325||experimental mammary neoplasms D008325||mammary neoplasm experimental D008325||neoplasm experimental mammary D008325||neoplasms experimental mammary C537369|602849||muenke syndrome C537369|602849||fgfr3 associated coronal synostosis C537369|602849||mnkes C537369|602849||muenke nonsyndromic coronal craniosynostosis C537369|602849||syndrome of coronal craniosynostosis D023961||gonadal dysgenesis 46 xx D023961|233300||gonadal dysgenesis xx type D023961||pure gonadal dysgenesis 46 xx C579867||3 methylglutaconic aciduria C579867||3mga 3 methylglutaconic aciduria C536214|272430||crisponi syndrome C536214|272430||ciss1 C536214|272430||cntf receptor related disorders C536214|272430||cold induced sweating syndrome C536214|272430|C564791|610313||cold induced sweating syndrome 1 C536214|272430||muscle contractions tetanoform with characteristic face camptodactyly hyperthermia and sudden death C536214|272430||sohar crisponi syndrome C567349|612335||spastic paraplegia 38 autosomal dominant C567349|612335||spg38 D007000||hypodermyiasis D007000||hypodermyiases C579862||3b hydroxysteroid dehydrogenase deficiency C579862||3beta hsd deficiency C579862|C538236|201810||3 beta hsd deficiency C579862||3beta hsd deficiency congenital adrenal hyperplasia C579862||3beta hydroxysteroid dehydrogenase deficiency C579862|C538236|201810||3 beta hydroxysteroid dehydrogenase deficiency C579862||3 beta ol dehydrogenase deficiency C579862||type ii 3beta hydroxysteroid dehydrogenase deficiency D046608||synkinesis D046608||synkineses C566560||sensorineural hearing loss retinal pigment epithelium lesions discolored teeth C565230|100070||aortic aneurysm familial abdominal 1 C536056|607634||osteopetrosis autosomal dominant type 1 C536056|607634||opta1 C536056|607634||osteopetrosis autosomal dominant 1 C536056|607634||osteopetrosis autosomal dominant type i C565236||deafness sensorineural with hypertrophic cardiomyopathy C566568||peroxisome biogenesis disorder complementation group 1 173600|C566795||pneumothorax primary spontaneous 173600|C566795|D013494|601104||psp C566569||peroxisome biogenesis disorder complementation group e 608516|D003865||depressive disorder major 608516|D003865||depression involutional 608516|D003865||depressive disorders major 608516|D003865||disorder major depressive 608516|D003865||disorders major depressive 608516|D003865||involutional depression 608516|D003865||involutional melancholia 608516|D003865||involutional psychoses 608516|D003865||involutional psychosis 608516|D003865||major depressive disorder 608516|D003865||major depressive disorders 608516|D003865||mdd 608516|D003865||melancholia involutional 608516|D003865||paraphrenia involutional 608516|D003865||psychoses involutional 608516|D003865||psychosis involutional 608516|D003865||sad included 608516|D003865||unipolar depression seasonal affective disorder included C566563||progeroid facial appearance with hand anomalies C566469|610489||pigmented nodular adrenocortical disease primary 1 C566469|610489||adrenocortical nodular dysplasia primary C566469|610489||cushing syndrome adrenal due to ppnad1 C566469|610489||pigmented micronodular adrenocortical disease primary 1 C566469|610489||ppnad1 C566611|601869||deafness autosomal recessive 15 C566611|601869||deafness autosomal recessive 72 C566611|601869||deafness autosomal recessive 95 C566611|601869||dfmb15 C566611|601869||dfnb15 C566611|601869||dfnb72 C566611|601869||dfnb95 D063173||retrognathia D063173||mandibular retroposition D063173||mandibular retropositions D063173||mandibular retrusion D063173||mandibular retrusions D063173||maxillary retroposition D063173||maxillary retropositions D063173||maxillary retrusion D063173||maxillary retrusions D063173||retrognathias D063173||retrognathism D063173||retrognathisms D063173||retroposition mandibular D063173||retroposition maxillary D063173||retropositions mandibular D063173||retropositions maxillary D063173||retrusion mandibular D063173||retrusion maxillary D063173||retrusions mandibular D063173||retrusions maxillary C566565||ventriculomegaly with defects of the radius and kidney C566566||medium chain 3 ketoacyl coa thiolase deficiency C537470|251850||microvillus inclusion disease C537470|251850||congenital familial protracted diarrhea with enterocyte brush border abnormalities C537470|251850||davidson disease C537470|251850||diar2 C537470|251850||diarrhea 2 with microvillus atrophy C537470|251850||intractable diarrhea of infancy C537470|251850||microvillus atrophy congenital C537470|251850||mvid C579880||actin accumulation myopathy C579880||actin filament aggregate myopathy C579880||actin myopathy C579880||congenital myopathy with excess of thin filaments D007009||hypolipoproteinemias D007009||hypolipoproteinemia D007009||hypoprebetalipoproteinemia D007007||hypohidrosis D007007||anhidrosis D008338||mandibular injuries D008338||injuries mandibular D008338||injury mandibular D008338||mandibular injury D009669||nose neoplasms D009669||cancer nasal D009669||cancer nose D009669||cancer of nose D009669||cancer of the nose D009669||cancers nasal D009669||cancers nose D009669||nasal cancer D009669||nasal cancers D009669||nasal neoplasm D009669||nasal neoplasms D009669||neoplasm nasal D009669||neoplasm nose D009669||neoplasms nasal D009669||neoplasms nose D009669||nose cancer D009669||nose cancers D009669||nose neoplasm D007008||hypokalemia D007008||hypokalemias D007008||hypopotassemia D007008||hypopotassemias D008339||mandibular neoplasms D008339||mandibular neoplasm D008339||neoplasm mandibular D008339||neoplasms mandibular D009668||nose diseases D009668||disease nasal D009668||disease nose D009668||diseases nasal D009668||diseases nose D009668||disorder nasal D009668||disorders nasal D009668||nasal disease D009668||nasal diseases D009668||nasal disorder D009668||nasal disorders D009668||nose disease D008336||mandibular diseases D008336||disease mandibular D008336||diseases mandibular D008336||mandibular disease D009667||nose deformities acquired D009667||acquired nasal deformities D009667||acquired nasal deformity D009667||acquired nose deformities D009667||acquired nose deformity D009667||nasal deformities acquired D009667||nasal deformity acquired D009667||nose deformity acquired D007006||hypogonadism D007006||hypergonadotropic hypogonadism D007006||hypogonadism hypergonadotropic D007006||hypogonadism hypogonadotropic D007006||hypogonadotropic hypogonadism D008337||mandibular fractures D008337||fracture mandibular D008337||fractures mandibular D008337||mandibular fracture D007003||hypoglycemia D007003||fasting hypoglycemia D007003||hypoglycemia fasting D007003||hypoglycemia postabsorptive D007003||hypoglycemia postprandial D007003||hypoglycemia reactive D007003||postabsorptive hypoglycemia D007003||postprandial hypoglycemia D007003||reactive hypoglycemia C535752|212066||congenital disorder of glycosylation type 2a C535752|212066||alkuraya syndrome C535752|212066||carbohydrate deficient glycoprotein syndrome type 2 C535752|212066||carbohydrate deficient glycoprotein syndrome type ii formerly C535752|212066||cdg2a C535752|212066||cdgiia C535752|212066||cdg iia C535752|212066||cdgs2 formerly C535752|212066||congenital disorder of glycosylation type iia C535752|212066||mental retardation growth retardation prominent columella and open mouth D007012||hypopharyngeal neoplasms D007012||cancer hypopharyngeal D007012||cancers hypopharyngeal D007012||hypopharyngeal cancer D007012||hypopharyngeal cancers D007012||hypopharyngeal neoplasm D007012||neoplasm hypopharyngeal D007012||neoplasms hypopharyngeal C579878||achondrogenesis C579878||achondrogenesis syndrome D007010||hyponatremia D007010||hyponatremias D007011||hypoparathyroidism D007011||hypoparathyroidism idiopathic D007011||idiopathic hypoparathyroidism C579873||9q22 3 microdeletion C579873||9q22 3 deletion C579873||9q22 deletion syndrome C579873||microdeletion 9q22 3 syndrome C566572||cervical dystonia primary C566572||dystonia primary cervical C566573||nephropathy progressive tubulointerstitial with cholestatic liver disease C566535|D006950|144250||hyperlipidemia combined 1 C566535|D006950|144250||fchl1 C566535|D006950|144250||hyperlipidemia familial combined 1 C566535|D006950|144250||hyplip1 D013967|608173||thyroiditis autoimmune D013967|608173||aitd1 D013967|608173||aitd2 D013967|608173||aitd3 D013967|608173||aitd4 D013967|608173||autoimmune thyroid disease susceptibility to 1 D013967|608173||autoimmune thyroid disease susceptibility to 2 D013967|608173||autoimmune thyroid disease susceptibility to 3 D013967|608173||autoimmune thyroid disease susceptibility to 4 D013967|608173||autoimmune thyroiditides D013967|608173||autoimmune thyroiditis D013967|608173||lymphocytic thyroiditides D013967|608173||lymphocytic thyroiditis D013967|608173||lymphomatous thyroiditides D013967|608173||lymphomatous thyroiditis D013967|608173||thyroiditides autoimmune D013967|608173||thyroiditides lymphocytic D013967|608173||thyroiditides lymphomatous D013967|608173||thyroiditis lymphocytic D013967|608173||thyroiditis lymphomatous C565204||parkinson disease 13 C567865||zechi ceide syndrome C567865||occipital atretic cephalocele unusual facies and large feet C538111|600089||pancreatic beta cell agenesis with neonatal diabetes mellitus C538111|600089||congenital absence of insulin producing beta cells with diabetes mellitus C566531||pseudoacromegaly with severe insulin resistance C567864||giacheti syndrome C567864||marfanoid habitus and specific language and learning disabilities D008309||mallory weiss syndrome D008309||gastroesophageal laceration hemorrhage D008309||gastroesophageal laceration hemorrhages D008309||junction mucosal lacerations gastroesophageal D008309||junctions mucosal lacerations gastroesophageal D008309||laceration hemorrhage gastroesophageal D008309||laceration hemorrhages gastroesophageal D008309||laceration mallory weiss D008309||lacerations gastroesophageal junction mucosal D008309||lacerations gastroesophageal junctions mucosal D008309||mallory weiss laceration D008309||mallory weiss tear D008309||mucosal lacerations gastroesophageal junction D008309||mucosal lacerations gastroesophageal junctions D008309||syndrome mallory weiss C567863||congenital lipomatous overgrowth vascular malformations and epidermal nevi C567863||cloves syndrome C567863||clove syndrome C567863||congenital lipomatous overgrowth vascular malformations epidermal nevi and skeletal spinal abnormalities 604286|C535902||limb girdle muscular dystrophy type 2e 604286|C535902||beta sarcoglycan limb girdle muscular dystrophy 604286|C535902||lgmd2e 604286|C535902||muscular dystrophy limb girdle type 2e 604286|C535902||muscular dystrophy limb girdle with beta sarcoglycan deficiency 192315|C566007||vasculopathy retinal with cerebral leukodystrophy 192315|C566007||cerebroretinal vasculopathy hereditary 192315|C566007||crv 192315|C566007||retinopathy vascular with cerebral and renal involvement and raynaud and migraine phenomena 192315|C566007||rvcl D046628||sphincter of oddi dysfunction D046628||sphincter of oddi dyskinesia D046628||sphincter of oddi stenosis D008305||malignant hyperthermia D008305||anesthesia hyperthermia D008305||anesthesia hyperthermias D008305||anesthesia related hyperthermia D008305||anesthesia related hyperthermias D008305||hyperpyrexia malignant D008305||hyperpyrexias malignant D008305||hyperthermia anesthesia related D008305||hyperthermia malignant D008305|145600|C535694||hyperthermia of anesthesia D008305||hyperthermias anesthesia related D008305||malignant hyperpyrexia D008305||malignant hyperpyrexias D008305||malignant hyperthermias D008305||related hyperthermia anesthesia D008305||related hyperthermias anesthesia C579850||16p11 2 deletion syndrome D008303||malignant carcinoid syndrome D008303||carcinoid syndrome malignant D008303||carcinoid syndromes malignant D008303||malignant carcinoid syndromes D008303||syndrome malignant carcinoid D008303||syndromes malignant carcinoid D008304||malignant catarrh D008304||catarrh malignant D008304||catarrhs malignant D008304||malignant catarrhs C565209||sclerocornea D008310||malocclusion D008310||angle classification D008310||angle apos s classification D008310||angles classification D008310||bite cross D008310||bites cross D008310||classification angle apos s D008310||crossbite D008310||cross bite D008310||crossbites D008310||cross bites D008310||crowdings tooth D008310||crowding tooth D008310||malocclusions D008310||tooth crowding D008311||malocclusion angle class i D008311||angle class i D008311||class i angle D010623||phencyclidine abuse D010623||abuse angel dust D010623||abuse pcp D010623||abuse phencyclidine D010623||angel dust abuse D010623||pcp abuse D010623||phencyclidine abuses D010623||phencyclidine related disorder D010623||phencyclidine related disorders D058606||accessory atrioventricular bundle D058606||accessory atrioventricular bundles D058606||accessory atrioventricular pathway D058606||accessory atrioventricular pathways D058606||accessory conducting pathway D058606||accessory conducting pathways D058606||accessory pathway concealed D058606||accessory pathway fasciculoventricular D058606||accessory pathway nodoventricular D058606||accessory pathways concealed D058606||accessory pathways fasciculoventricular D058606||accessory pathways nodoventricular D058606||atrio hisian bypass tract D058606||atrio hisian bypass tracts D058606||atriohisian fiber D058606||atriohisian fibers D058606||atriohisian tract D058606||atriohisian tracts D058606||atrioventricular bundle accessory D058606||atrioventricular bundles accessory D058606||atrioventricular pathway accessory D058606||atrioventricular pathways accessory D058606||bundle accessory atrioventricular D058606||bundle kent D058606||bundle of kent D058606||bundles accessory atrioventricular D058606||bypass tract atrio hisian D058606||bypass tracts atrio hisian D058606||concealed accessory pathway D058606||concealed accessory pathways D058606||conducting pathway accessory D058606||conducting pathways accessory D058606||fasciculoventricular accessory pathway D058606||fasciculoventricular accessory pathways D058606||fasciculoventricular pathway D058606||fasciculoventricular pathways D058606||fiber atriohisian D058606||fibers atriohisian D058606||fibers james D058606||fibers mahaim D058606||james fibers D058606||kent bundle D058606||mahaim fibers D058606||nodoventricular accessory pathway D058606||nodoventricular accessory pathways D058606||nodoventricular pathway D058606||nodoventricular pathways D058606||pathway accessory atrioventricular D058606||pathway accessory conducting D058606||pathway concealed accessory D058606||pathway fasciculoventricular D058606||pathway fasciculoventricular accessory D058606||pathway nodoventricular D058606||pathway nodoventricular accessory D058606||pathways accessory atrioventricular D058606||pathways accessory conducting D058606||pathways concealed accessory D058606||pathways fasciculoventricular D058606||pathways fasciculoventricular accessory D058606||pathways nodoventricular D058606||pathways nodoventricular accessory D058606||tract atriohisian D058606||tract atrio hisian bypass D058606||tracts atriohisian D058606||tracts atrio hisian bypass 604321||microcephaly 4 primary autosomal recessive 604321||mcph4 C566540||migraine familial basilar C579849||15q24 microdeletion C579849||15q24 deletion C579849||15q24 microdeletion syndrome C579849||interstitial deletion of chromosome 15q24 D063192||pregnancy heterotopic D063192||cornual heterotopic pregnancies D063192||cornual heterotopic pregnancy D063192||heterotopic pregnancies D063192||heterotopic pregnancies cornual D063192||heterotopic pregnancies tubal D063192||heterotopic pregnancy D063192||heterotopic pregnancy cornual D063192||heterotopic pregnancy tubal D063192||pregnancies cornual heterotopic D063192||pregnancies heterotopic D063192||pregnancies tubal heterotopic D063192||pregnancy cornual heterotopic D063192||pregnancy tubal heterotopic D063192||tubal heterotopic pregnancies D063192||tubal heterotopic pregnancy C567878||erythrocyte amp deaminase deficiency C566543||creases infra auricular cutaneous with tall stature and advanced bone age C566544||short stature auditory canal atresia mandibular hypoplasia skeletal abnormalities C566544||sams C563415|600977||cone rod dystrophy 5 C563415|600977||cord5 D008312||malocclusion angle class ii D008312||angle class ii D008312||class ii angle 210710|C537577||microcephalic osteodysplastic primordial dwarfism type 1 210710|C537577||brachymelic primordial dwarfism 210710|C537577||cephaloskeletal dysplasia 210710|C537577||low birth weight dwarfism with skeletal dysplasia 210710|C537577||microcephalic osteodysplastic primordial dwarfism type i 210710|C537577||mopd 210710|C537577||mopd1 210710|C537577||mopd i 210710|C537577||osteodysplastic primordial dwarfism type 1 210710|C537577||osteodysplastic primordial dwarfism type i 210710|C537577||tals 210710|C537577||taybi linder syndrome D008313||malocclusion angle class iii D008313||angle class iii D008313||class iii angle D008313||underbite D008313||underbites C535494|131850||epidermolysis bullosa pretibial C535494|131850||deb pretibial C535494|131850||dystrophic epidermolysis bullosa pretibial C535494|131850||epidermolysis bullosa dystrophica pretibial C535494|131850||pretibial epidermolysis bullosa 208400|D054880||aspartylglucosaminuria 208400|D054880||aga deficiencies 208400|D054880||aga deficiency 208400|D054880||agu 208400|D054880||aspartylglucosamidase deficiencies 208400|D054880||aspartylglucosamidase deficiency 208400|D054880|C538402||aspartylglucosaminidase deficiency 208400|D054880||aspartylglucosaminurias 208400|D054880||aspartylglycosaminuria 208400|D054880||aspartylglycosaminurias 208400|D054880||deficiencies aga 208400|D054880||deficiencies aspartylglucosamidase 208400|D054880||deficiency aga 208400|D054880||deficiency aspartylglucosamidase 208400|D054880||glycoasparaginase 208400|D054880||glycoasparaginases 208400|D054880|C538402||glycosylasparaginase deficiency C567835|612968||cataract autosomal recessive congenital 3 C567835|612968||cataract 34 multiple types C567835|612968||cataract 34 multiple types with or without microcornea C567835|612968||catc3 C567835|612968||ctrct34 D058617||composite lymphoma D058617||composite lymphomas D058617||lymphoma composite D058617||lymphomas composite D001327|109100||autoimmune diseases D001327|109100||ais6 D001327|109100||autoimmune disease D001327|109100||autoimmune disease susceptibility to 6 D001327|109100||disease autoimmune D001327|109100||diseases autoimmune C567492|262700||pituitary hormone deficiency combined 4 C567492|262700||cphd4 C567492|262700||pituitary hormone deficiency combined with or without cerebellar defects C567492|262700||short stature pituitary and cerebellar defects and small sella turcica 203300|C538539||albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells 203300|C538539||delta storage pool disease 203300|C538539||hermansky pudlak syndrome 1 203300|C538539||hps1 C565220||bleeding disorder due to p2ry12 defect 106280|C562396||ankyloglossia 106280|C562396||tongue tie 106280|C562396||apos tongue tie apos 604317||microcephaly 2 primary autosomal recessive with or without cortical malformations 604317||mcph2 C537746|258315||omodysplasia type 1 C537746|258315|C537557||micromelic dysplasia congenital with dislocation of radius C537746|258315||omod1 C537746|258315||omodysplasia 1 C537746|258315||omodysplasia autosomal recessive C537746|258315||omodysplasia autosomal recessive form C537746|258315||omodysplasia generalized form C537746|258315||omodysplasia maroteaux C566514||skeletal dysplasia and progressive central nervous system degeneration lethal C566515||spondyloepiphyseal dysplasia with coronal craniosynostosis cataracts cleft palate and mental retardation D023921||coronary stenosis D023921||artery stenoses coronary D023921||artery stenosis coronary D023921||coronary artery stenoses D023921||coronary artery stenosis D023921||coronary stenoses D023921||stenoses coronary D023921||stenoses coronary artery D023921||stenosis coronary D023921||stenosis coronary artery C562405|265100||pulmonary alveolar microlithiasis D009617||nocardia infections D009617||cerebral nocardioses D009617||cerebral nocardiosis D009617||cutaneous nocardioses primary D009617||cutaneous nocardiosis primary D009617||infection nocardia D009617||infections nocardia D009617||nocardia infection D009617||nocardioses D009617||nocardioses cerebral D009617||nocardioses primary cutaneous D009617||nocardioses pulmonary D009617||nocardiosis D009617||nocardiosis cerebral D009617||nocardiosis primary cutaneous D009617||nocardiosis pulmonary D009617||primary cutaneous nocardioses D009617||primary cutaneous nocardiosis D009617||pulmonary nocardioses D009617||pulmonary nocardiosis 209920|C537079||bare lymphocyte syndrome 2 209920|C537079||bare lymphocyte syndrome type 2 209920|C537079||bare lymphocyte syndrome type ii 209920|C537079||bare lymphocyte syndrome type ii complementation group b included 209920|C537079||bare lymphocyte syndrome type ii complementation group c included 209920|C537079||bare lymphocyte syndrome type ii complementation group d included 209920|C537079||bare lymphocyte syndrome type ii complementation group e included 209920|C537079|210900|D001816||bls 209920|C537079||bls type ii 209920|C537079||scid hla class 2 negative 209920|C537079||scid hla class ii negative 209920|C537079||scid hla class ii negative bare lymphocyte syndrome type ii complementation group a included 209920|C537079||severe combined immunodeficiency hla class ii negative D046648||hematoma subdural intracranial D046648||hematoma intracranial subdural D046648||hematomas intracranial subdural D046648||hematoma subdural cranial D046648||intracranial subdural hematoma D046648||intracranial subdural hematomas D046648||intracranial subdural hematoma traumatic D046648||subdural hematoma intracranial D046648||subdural hematomas intracranial D046648||subdural hematoma traumatic intracranial D046648||traumatic intracranial subdural hematoma D010608||pharyngeal diseases D010608||disease pharyngeal D010608||disease pharynx D010608||diseases of pharynx D010608||diseases pharyngeal D010608||diseases pharynx D010608||pharyngeal disease D010608||pharynx disease D010608||pharynx diseases 254210|C535759||congenital myasthenic syndrome with episodic apnea 254210|C535759||cms1a2 254210|C535759||cms ea 254210|C535759||cms ia2 254210|C535759||congenital myasthenic syndrome type 1a 254210|C535759||congenital myasthenic syndrome type ia 254210|C535759||congenital myasthenic syndrome type ia2 254210|C535759||fim 254210|C535759||fimg2 formerly 254210|C535759||myasthenia familial infantile 254210|C535759||myasthenia gravis familial infantile 2 formerly 254210|C535759||myasthenic syndrome congenital associated with episodic apnea 254210|C535759||myasthenic syndrome presynaptic congenital associated with episodic apnea D046649||hematoma subdural spinal D046649||hematoma spinal subdural D046649||hematomas spinal subdural D046649||spinal subdural hematoma D046649||spinal subdural hematomas D046649||spinal subdural hematoma traumatic D046649||subdural hematoma spinal D046649||subdural hematoma spinal traumatic D046649||subdural hematomas spinal D046649||traumatic spinal subdural hematoma C535428|606798||benign essential blepharospasm C535428|606798||blepharospasm benign essential C535428|606798||essential blepharospasm C535428|606798||eyelid twitching C535428|606798||primary blepharospasm C535428|606798||spasm of eyelids C566516||pancreatic lymphoma familial C566519||emphysema congenital with deafness penoscrotal web and mental retardation C567849||microcephaly growth retardation cataract hearing loss and unusual appearance C537119|127300||leri weil syndrome C537119|127300||dyschondrosteosis C537119|127300||dyschondrosteosis dco madelung deformity included C537119|127300||leri weill dyschondrosteosis C537119|127300||l 233 ri weill dyschondrosteosis C537119|127300||lwd D017204|105830||angelman syndrome D017204|105830||ancr included D017204|105830||as D017204|105830||children puppet D017204|105830||happy puppet syndrome D017204|105830||happy puppet syndrome formerly angelman syndrome chromosome region included D017204|105830||puppet children D017204|105830||syndrome angelman D017204|105830||syndrome happy puppet D059952||pelvic floor disorders D059952||disease pelvic floor D059952||diseases pelvic floor D059952||disorder pelvic floor D059952||disorders pelvic floor D059952||pelvic floor disease D059952||pelvic floor diseases D059952||pelvic floor disorder C567551|612847||spondyloepimetaphyseal dysplasia pakistani type C567551|612847||brachyolmia type 4 with mild epiphyseal and metaphyseal changes C567551|612847||semd pakistani type C567551|612847|C567552||spondylodysplasia and premature pubarche D058627||macrocephaly D058627||macrocephalies C563448|600757||orofacial cleft 3 C563448|600757||cleft lip with or without cleft palate nonsyndromic 3 C563448|600757||ofc3 C537150|240800||hypoglycemia leucine induced C537150|240800||leucine sensitive hypoglycemia of infancy C537150|240800||lih D058625||end stage liver disease D058625||chronic liver failure D058625||chronic liver failures D058625||failure chronic liver D058625||failures chronic liver D058625||liver failure chronic D058625||liver failures chronic C566523||spondyloepimetaphyseal dysplasia shohat type C566523||semd shohat type C566524||facial dysmorphism cleft palate hearing loss and camptodactyly C566525||microcephaly macrotia and mental retardation C566526||anal atresia hypospadias and penoscrotal inversion C566520||mandibulofacial dysostosis with macroblepharon and macrostomia C567850||hadziselimovic syndrome C567850||microcephaly faciocardioskeletal syndrome 115195|C566171||cardiomyopathy familial hypertrophic 2 115195|C566171||cmh2 C566521||brachydactyly intraventricular septal defect and deafness C566522||craniomicromelic syndrome C564531|300345||microphthalmia isolated with coloboma 1 C564531|300345||mcopcb1 C564531|300345||microphthalmia colobomatous isolated 1 604232|C565814||leber congenital amaurosis 3 604232|C565814||lca3 604232|C565814||retinitis pigmentosa juvenile spata7 related 604232|C565814||retinitis pigmentosa juvenile spata7 related included D009625||noma D009625||cancrum oris D009625||gangrenous stomatitides D009625||gangrenous stomatitis D009625||nomas D009625||stomatitides gangrenous D009625||stomatitis gangrenous D010024|166710||osteoporosis D010024|166710||age related bone loss D010024|166710||age related bone losses D010024|166710||age related osteoporoses D010024|166710||age related osteoporosis D010024|166710||bmnd D010024|166710||bone loss age related D010024|166710||bone losses age related D010024|166710||bone mineral density quantitative trait locus D010024|166710||osteoporoses D010024|166710||osteoporoses age related D010024|166710||osteoporoses senile D010024|166710||osteoporosis age related D010024|166710||osteoporosis involutional D010024|166710||osteoporosis involutional fracture hip susceptibility to included D010024|166710|D015663||osteoporosis postmenopausal D010024|166710||osteoporosis post traumatic D010024|166710||osteoporosis senile D010024|166710||post traumatic osteoporoses D010024|166710||post traumatic osteoporosis D010024|166710||senile osteoporoses D010024|166710||senile osteoporosis C566527||muscular dystrophy congenital megaconial type C566529||arterial occlusive disease progressive with hypertension heart defects bone fragility and brachysyndactyly C566529||grange occlusive arterial syndrome C563752|609271||keratoconus 4 C563752|609271||ktcn4 D009631||nonodontogenic cysts D009631||cyst nonodontogenic D009631||cysts nonodontogenic D009631||nonodontogenic cyst D009630||nondisjunction genetic D009630||genetic nondisjunction D009630||genetic non disjunction D009630||genetic nondisjunctions D009630||genetic non disjunctions D009630||non disjunction genetic D009630||nondisjunctions genetic D009630||non disjunctions genetic C567647|613312||hypophosphatemic rickets autosomal recessive 2 C567647|613312||arhr2 D010610||pharyngeal neoplasms D010610||cancer of pharynx D010610||cancer of the pharynx D010610||cancer pharnyx D010610||cancer pharyngeal D010610||cancers pharnyx D010610||cancers pharyngeal D010610||neoplasm pharyngeal D010610||neoplasm pharynx D010610||neoplasms pharyngeal D010610||neoplasms pharynx D010610||pharnyx cancer D010610||pharnyx cancers D010610||pharyngeal cancer D010610||pharyngeal cancers D010610||pharyngeal neoplasm D010610||pharynx cancer D010610||pharynx cancers D010610||pharynx neoplasm D010610||pharynx neoplasms D010612||pharyngitis D010612||pharyngitides D010612||sore throat D010612||sore throats D010612||throat sore C535476|608470||corneal dystrophy of bowman layer type 1 C535476|608470||cdb1 C535476|608470||cdrb C535476|608470||corneal dystrophy geographic C535476|608470||corneal dystrophy of bowman layer type i C535476|608470||corneal dystrophy reis bucklers type C535476|608470||granular corneal dystrophy type iii C535476|608470||rbcd C535476|608470||reis bucklers corneal dystrophy C535476|608470||reis bucklers dystrophy C567821||febrile convulsions familial 3b 607595|C564372||brain small vessel disease with hemorrhage 607595|C564372||brain small vessel disease with axenfeld rieger anomaly 607595|C564372||col4a1 related brain small vessel disease 607595|C564372||infantile hemiparesis 607595|C564372||leukoencephalopathy with axenfeld rieger anomaly 607595|C564372||leukoencephalopathy with axenfeld rieger anomaly included 607595|C564372||retinal arteriolar tortuosity infantile hemiparesis and leukoencephalopathy autosomal dominant 607595|C564372||retinal arteriolar tortuosity infantile hemiparesis and leukoencephalopathy autosomal dominant brain small vessel disease with axenfeld rieger anomaly included D014190||transvestism D014190||fetishisms transvestic D014190||fetishism transvestic D014190||transvestic fetishism D014190||transvestic fetishisms D014190||transvestisms C567820||febrile convulsions familial 3a C567820||convulsions familial febrile 3a C567820||seizures familial febrile 3a C567046|610921||surfactant metabolism dysfunction pulmonary 3 C567046|610921||interstitial lung disease due to abca3 deficiency C567046|610921||pulmonary alveolar proteinosis congenital 3 C567046|610921||smdp3 D023903||coronary restenosis D023903||coronary restenoses D023903||restenoses coronary D023903||restenosis coronary C565390|251000||methylmalonic aciduria due to methylmalonyl coa mutase deficiency C565390|251000||methylmalonic acidemia due to methylmalonyl coa mutase deficiency C565390|251000||methylmalonic acidemia due to methylmalonyl coa mutase deficiency mma due to mcm deficiency C565390|251000||methylmalonic aciduria mut 0 type C565390|251000||methylmalonic aciduria mut type C565390|251000||methylmalonic aciduria mut type included C565390|251000||methylmalonic aciduria mut type methylmalonic aciduria mut 0 type included C565390|251000||mma due to mcm deficiency C565310|605642||thyroid carcinoma papillary with papillary renal neoplasia C565310|605642||prn1 C565310|605642||ptcprn C565320|605582||cardiomyopathy dilated 1k C565320|605582||cmd1k C567827||generalized epilepsy with febrile seizures plus 7 C567827||gefsp7 C567827||generalized epilepsy with febrile seizures plus type 7 190350||trps1 190350||trps i D014189||transsexualism D014189||transsexualisms D014188||transposition of great vessels D014188||dextro looped transposition of the great arteries D014188||great arteries transposition D014188||great arteries transpositions D014188||great vessels transposition D014188||great vessels transpositions D014188||transposition of great arteries 302045|300376|D020388||cardiomyopathy dilated 3b 302045|300376|D020388||cardiomyopathy dilated x linked 302045||xlcm C563322|601410||diabetes mellitus transient neonatal 1 C563322|601410||dmtn C563322|601410||tndm C563322|601410||tndm1 C566502||visceral neuropathy familial autosomal dominant C566502||enteric neuropathy familial C566502||pseudoobstruction chronic intestinal neuropathic C566502|155310||pseudoobstruction idiopathic intestinal C567053|610878||vesicoureteral reflux 2 C567053|610878||vur2 C567831||emery dreifuss muscular dystrophy 4 C567830||emery dreifuss muscular dystrophy 5 C566509||external ophthalmoplegia synergistic divergence jaw winking and oculocutaneous hypopigmentation D011928||raynaud disease D011928||cold fingers hereditary D011928||raynaud phenomenon D011928||raynaud apos s disease D011928||raynauds disease C566507||spondylomegaepiphyseal dysplasia with upper limb mesomelia punctate calcifications and deafness C566508||fibrosis of extraocular muscles congenital with synergistic divergence C566508||congenital fibrosis syndrome with synergistic divergence C566508||external ophthalmoplegia with synergistic divergence C567425|612079||alopecia neurologic defects and endocrinopathy syndrome C567425|612079||ane syndrome 607676|C564352||irak4 deficiency 607676|C564352||irak4d 607676|C564352||irak 4 deficiency C535323|153550||5q syndrome C535323|153550||5q deletion syndrome C535323|153550||chromosome 5q deletion syndrome C535323|153550||macrocytic anemia refractory due to 5q deletion C535323|153550||macrocytic anemia refractory due to 5q deletion mar megakaryocytes unilobular nucleated included C535323|153550||refractory macrocytic anemia due to 5q deletion C537589|602450||severe combined immunodeficiency with sensitivity to ionizing radiation C537589|602450||athabaskan severe combined immunodeficiency included C537589|602450||rs scid C537589|602450||scida included C537589|602450||scid autosomal recessive t cell negative b cell negative nk cell positive with sensitivity to ionizing radiation C537589|602450||scid autosomal recessive t cell negative b cell negative nk cell positive with sensitivity to ionizing radiation severe combined immunodeficiency athabaskan type included C537589|602450||severe combined immunodeficiency partial included C566411|603075||macular degeneration age related 1 C566411|603075||armd1 C566411|603075||maculopathy age related 1 D002189||marijuana abuse D002189||abuse cannabis D002189||abuse hashish D002189||abuse marihuana D002189||abuse marijuana D002189||cannabis abuse D002189||cannabis dependence D002189||cannabis related disorder D002189||dependence cannabis D002189||dependence marijuana D002189||disorder cannabis related D002189||hashish abuse D002189||marihuana abuse D002189||marijuana dependence C565360|613791||masp2 deficiency C567804||dursun syndrome C567804||pulmonary arterial hypertension leukopenia and atrial septal defect C531844||von willebrand factor deficiency D002194||capgras syndrome D002194||syndrome capgras C531847||wallerian degeneration of the pyramidal tract C531849||intestinal lipophagic granulomatosis C531849||secondary non tropical sprue D056005||leprosy paucibacillary D056005||borderline tuberculoid D056005||borderline tuberculoids D056005||indeterminate tuberculoid D056005||indeterminate tuberculoids D056005||leprosies paucibacillary D056005||paucibacillary leprosies D056005||paucibacillary leprosy D056005||tuberculoid borderline D056005||tuberculoid indeterminate D056005||tuberculoids borderline D056005||tuberculoids indeterminate D056006||leprosy multibacillary D056006||borderline lepromatous D056006||lepromatous borderline D056006||lepromatous midborderline D056006||leprosies multibacillary D056006||midborderline lepromatous D056006||multibacillary leprosies D056006||multibacillary leprosy C531841||benign non infected urachal cyst C531841||giant urachal cyst C531841||infected urachal cyst C531841||inflamed urachal cyst D015499||renal tubular transport inborn errors D015499||kidney tubular transport inborn error D015499||kidney tubular transport inborn errors D015499||renal tubular transport errors D015499||renal tubular transport inborn error 132000|C562638||epidermolysis bullosa with congenital localized absence of skin and deformity of nails 132000|C562638||epidermolysis bullosa dystrophica bart type C567810||chromosome 19q13 11 deletion syndrome 226670|C535955||epidermolysa bullosa simplex and limb girdle muscular dystrophy 226670|C535955||ebs md 226670|C535955||epidermolysis bullosa simplex and limb girdle muscular dystrophy 226670|C535955||epidermolysis bullosa simplex with muscular dystrophy 226670|C535955||mdebs 226670|C535955||md ebs 600803||gallbladder disease 1 600803||cholelithiasis low phospholipid associated 600803||gbd1 600803||lpac C567819||santos syndrome C567819||fibular agenesis hypoplasia oligodactylous clubfeet and anonychia nail hypoplasia syndrome D011906||rat bite fever D011906||fever ratbite D011906||fever rat bite D011906||fevers ratbite D011906||fevers rat bite D011906||ratbite fever D011906||ratbite fevers D011906||rat bite fevers D011906||sodoku C537466|309801||microphthalmia syndromic 7 C537466|309801||mcops7 C537466|309801||microphthalmia dermal aplasia and sclerocornea C537466|309801||microphthalmia with linear skin defects C537466|309801||microphthalmia with linear skin defects syndrome C537466|309801||microphthalmia with linear skin lesions syndrome C537466|309801||midas syndrome C537466|309801||mls C537466|309801||syndromic microphthalmia 7 607785|D054429||leukemia myelomonocytic juvenile 607785|D054429||cmml included 607785|D054429||jmml 607785|D054429||juvenile chronic myelogenous leukemia 607785|D054429||juvenile myelomonocytic leukemia 607785|D054429||juvenile myelomonocytic leukemias 607785|D054429||leukemia juvenile myelomonocytic 607785|D054429||leukemia juvenile myelomonocytic leukemia chronic myelomonocytic included 607785|D054429||myelomonocytic leukemia juvenile 607785|D054429||myelomonocytic leukemias juvenile D058674||chromosome duplication D058674||chromosomal duplication D058674||chromosomal duplications D058674||chromosome duplications D058674||duplication chromosomal D058674||duplication chromosome D058674||duplications chromosomal D058674||duplications chromosome C531857||zellweger leukodystrophy D011900||ranula D011900||ranulas D058670||tetrasomy D058670||partial tetrasomies D058670||partial tetrasomy D058670||tetrasomies D058670||tetrasomies partial D058670||tetrasomy partial D014178||translocation genetic D014178||chromosomal translocation D014178||chromosomal translocations D014178||genetic translocation D014178||genetic translocations D014178||translocation chromosomal D014178||translocations chromosomal D014178||translocations genetic 142700||developmental dysplasia of the hip 1 142700||acetabular dysplasia 142700||ddh 142700||ddh1 142700||hip dysplasia developmental D000437|103780||alcoholism D000437|103780||abuse alcohol D000437|103780||addiction alcohol D000437|103780||alcohol abuse D000437|103780||alcohol addiction D000437|103780||alcohol dependence D000437|103780||alcoholic intoxication chronic D000437|103780||chronic alcoholic intoxication D000437|103780||dependence alcohol D000437|103780||intoxication chronic alcoholic C563848|608810||alpha b crystallinopathy C563848|608810||mfm2 C563848|608810||myopathy cardioskeletal desmin related with cataract C563848|608810||myopathy desmin related associated with mutation in the cryab gene C563848|608810||myopathy myofibrillar 2 C563848|608810||myopathy myofibrillar alpha b crystallin related C563848|608810||myopathy myofibrillar with or without cataract and or cardiomyopathy D002169||campylobacter infections D002169||campylobacter infection D002169||infection campylobacter D002169||infections campylobacter D058686||coronary subclavian steal syndrome D058686||syndrome coronary subclavian steal D058686||syndromes coronary subclavian steal D058687||out of hospital cardiac arrest D058687||cardiac arrest out of hospital D058687||cardiac arrests out of hospital D058687||heart arrest out of hospital D058687||heart arrests out of hospital D058687||out of hospital cardiac arrests D058687||out of hospital heart arrest D058687||out of hospital heart arrests C537505|262650||kowarski syndrome C537505|262650||biodefective growth hormone C537505|262650||nanism due to growth hormone qualitative anomaly C537505|262650||pituitary dwarfism 4 C537505|262650||pituitary dwarfism with normal immunoreactive growth hormone C537505|262650||pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin D015479||leukemia myelomonocytic acute D015479||acute myelomonocytic leukemia D015479||acute myelomonocytic leukemias D015479||leukemia acute myelomonocytic D015479||leukemia myeloid acute m4 D015479||leukemia myeloid naegeli type D015479||leukemia naegeli type myeloid D015479||leukemias acute myelomonocytic D015479||myeloid leukemia acute m4 D015479||myeloid leukemia naegeli type D015479||myelomonocytic leukemia acute D015479||myelomonocytic leukemias acute D015479||naegeli type myeloid leukemia 209950|D009165||mycobacterium infections nontuberculous 209950|D009165||atypical mycobacterial infection disseminated 209950|D009165||atypical mycobacterioses familial 209950|D009165||atypical mycobacteriosis familial 209950|D009165||atypical mycobacteriosis familial disseminated 209950|D009165||atypical mycobacterium infection 209950|D009165||atypical mycobacterium infections 209950|D009165||bcg and salmonella infection disseminated included 209950|D009165||bcg infection generalized familial semibenign autosomal dominant included 209950|D009165||familial atypical mycobacterioses 209950|D009165||familial atypical mycobacteriosis 209950|D009165||infection atypical mycobacterium 209950|D009165||infection nontuberculous mycobacterium 209950|D009165||infections atypical mycobacterium 209950|D009165||infections nontuberculous mycobacterium 209950|D009165||mycobacterial disease mendelian susceptibility to msmd bcg infection generalized familial included 209950|D009165||mycobacterioses familial atypical 209950|D009165||mycobacteriosis familial atypical 209950|D009165||mycobacterium infection atypical 209950|D009165||mycobacterium infection nontuberculous 209950|D009165||mycobacterium infections atypical 209950|D009165||nontuberculous mycobacterium infection 209950|D009165||nontuberculous mycobacterium infections D015477||leukemia myelomonocytic chronic D015477||chronic myelomonocytic leukemia D015477||chronic myelomonocytic leukemias D015477||leukemia chronic myelomonocytic D015477||leukemias chronic myelomonocytic D015477||myelomonocytic leukemia chronic D015477||myelomonocytic leukemias chronic D015490||htlv i infections D015490||htlv i infection D015490||infection htlv i D015490||infections htlv i D015494||salivary gland calculi D015494||calculi salivary gland D015494||calculus salivary gland D015494||gland calculi salivary D015494||gland calculus salivary D015494||gland stone salivary D015494||gland stones salivary D015494||salivary gland calculus D015494||salivary gland stone D015494||salivary gland stones D015494||sialolith D015494||sialolithiasis D015494||sialoliths D015494||stone salivary gland D015494||stones salivary gland D015491||htlv ii infections D015491||htlv ii infection D015491||infection htlv ii D015491||infections htlv ii D002178||candidiasis chronic mucocutaneous D002178||candidiases chronic mucocutaneous D002178||chronic mucocutaneous candidiases D002178||chronic mucocutaneous candidiasis D002178||mucocutaneous candidiases chronic D002178||mucocutaneous candidiasis chronic D002179||candidiasis cutaneous D002179||candidiases cutaneous D002179||cutaneous candidiases D002179||cutaneous candidiasis D002179||cutaneous moniliases D002179||cutaneous moniliasis D002179||moniliases cutaneous D002179||moniliasis cutaneous D002177||candidiasis D002177||candidiases D002177||moniliases D002177||moniliasis D002181||candidiasis vulvovaginal D002181||monilial vaginitides D002181||monilial vaginitis D002181||moniliasis vulvovaginal D002181||vaginitides monilial D002181||vaginitis monilial D002181||vulvovaginal candidiases D002181||vulvovaginal candidiasis D002181||vulvovaginal moniliases D002181||vulvovaginal moniliasis 604391||atld C564747|277380||methylmalonic aciduria and homocystinuria cblf type C564747|277380||cblf C564747|277380||cobalamin defect in lysosomal release of C564747|277380||cobalamin f disease C564747|277380||methylmalonic acidemia and homocystinuria cblf type C564747|277380||methylmalonic aciduria due to vitamin b12 release defect C564747|277380||vitamin b12 lysosomal release defect C564747|277380||vitamin b12 storage disease D002180||candidiasis oral D002180||candidiases oral D002180||moniliases oral D002180||moniliasis oral D002180||oral candidiases D002180||oral candidiasis D002180||oral moniliases D002180||oral moniliasis D002180||thrush C575214|613371||spinocerebellar ataxia 30 C575214|613371||sca30 D015461||leukemia prolymphocytic t cell D015461||leukemia lymphocytic chronic t cell D015461||leukemias t cell prolymphocytic D015461||leukemia t cell chronic D015461||leukemia t cell prolymphocytic D015461||lymphocytic leukemia t cell chronic D015461||prolymphocytic leukemias t cell D015461||prolymphocytic leukemia t cell D015461||t cell leukemia chronic D015461||t cell prolymphocytic leukemia D015461||t cell prolymphocytic leukemias D015461||t lymphocytic leukemia chronic 304730|C535376||dermoids of cornea 304730|C535376||bilateral corneal dermoids 304730|C535376||cnd 304730|C535376||corneal dermoids and short stature 304730|C535376||guizar vazquez luengas munoz syndrome 615031||spastic paraplegia 49 autosomal recessive 615031||spg49 D002145||callosities D002145||callosity D002145||corns D003480||cushing syndrome D003480||cushing apos s syndrome D003480||hypercortisolism D003480||syndrome cushing D003480||syndrome cushing apos s D015459||leukemia lymphoma adult t cell D015459||adult t cell leukemia D015459||adult t cell leukemia lymphoma D015459||adult t cell leukemia lymphomas D015459||adult t cell leukemias D015459||atll D015459||htlv associated leukemia lymphoma D015459||htlv associated leukemia lymphomas D015459||htlv i associated t cell leukemia lymphoma D015459||htlv i associated t cell leukemia lymphomas D015459||human t cell leukemia lymphoma D015459||human t cell leukemia lymphomas D015459||human t lymphotropic virus associated leukemia lymphoma D015459||leukemia adult t cell D015459||leukemia lymphoma htlv associated D015459||leukemia lymphoma htlv i associated t cell D015459||leukemia lymphoma human t cell D015459||leukemia lymphomas adult t cell D015459||leukemia lymphomas htlv associated D015459||leukemia lymphomas htlv i associated t cell D015459||leukemia lymphomas human t cell D015459||leukemia lymphoma t cell acute htlv i associated D015459||leukemias adult t cell D015459||t cell leukemia adult D015459||t cell leukemia lymphoma adult D015459||t cell leukemia lymphoma htlv i associated D015459||t cell leukemia lymphoma human D015459||t cell leukemia lymphomas adult D015459||t cell leukemia lymphomas htlv i associated D015459||t cell leukemia lymphomas human D015459||t cell leukemias adult C564791|610313||ciss2 C564791|610313||cold induced sweating syndrome 2 C564791|610313||sweating cold induced D014123||toxoplasmosis D014123||infections toxoplasma gondii D014123||infection toxoplasma gondii D014123||toxoplasma gondii infection D014123||toxoplasma gondii infections D014123||toxoplasmoses D011546|145260||pseudohypoaldosteronism D011546|145260||familial hyperpotassemia and hypertension D011546|145260||familial hypertensive hyperkalemia D011546|145260||familial hypertensive hyperkalemias D011546|145260||gordon hyperkalemia hypertension syndrome D011546|145260||hyperkalemia familial hypertensive D011546|145260||hyperkalemia hypertension syndrome gordon D011546|145260||hyperkalemias familial hypertensive D011546|145260||hyperpotassemia and hypertension familial D011546|145260||hypertensive hyperkalemia familial D011546|145260||hypertensive hyperkalemias familial D011546|145260||i pseudohypoaldosteronism type D011546|145260||is pseudohypoaldosteronism type D011546|145260||pha1a D011546|145260||pha1b D011546|145260||pha2a D011546|145260||pha i autosomal dominant D011546|145260||pha i autosomal recessive D011546|145260||php1b D011546|145260|C548076||php1c D011546|145260||php ib D011546|145260|C548076||php ic D011546|145260||pseudohypoaldosteronisms D011546|145260||pseudohypoaldosteronisms type i D011546|145260||pseudohypoaldosteronisms type ii D011546|145260||pseudohypoaldosteronism type 1 D011546|145260||pseudohypoaldosteronism type 1 autosomal dominant D011546|145260||pseudohypoaldosteronism type 1 autosomal recessive D011546|145260||pseudohypoaldosteronism type 1s D011546|145260||pseudohypoaldosteronism type 2 D011546|145260||pseudohypoaldosteronism type 2s D011546|145260||pseudohypoaldosteronism type i D011546|145260||pseudohypoaldosteronism type i autosomal dominant D011546|145260||pseudohypoaldosteronism type i autosomal recessive D011546|145260||pseudohypoaldosteronism type ii D011546|145260||pseudohypoaldosteronism type is D011546|145260|C548076||pseudohypoparathyroidism type ic D011546|145260||syndrome gordon hyperkalemia hypertension D011546|145260||type 1 pseudohypoaldosteronism D011546|145260||type ii pseudohypoaldosteronism D011546|145260||type ii pseudohypoaldosteronisms D011546|145260||type i pseudohypoaldosteronism D011546|145260||type is pseudohypoaldosteronism D015452||precursor b cell lymphoblastic leukemia lymphoma D015452||leukemia pre b cell D015452||leukemias pre b cell D015452||pre b all D015452||pre b cell leukemia D015452||pre b cell leukemias D015452||precursor b cell lymphoblastic leukemia D015452||precursor b cell lymphoblastic lymphoma D014120||toxocariasis D014120||toxocariases D015458||leukemia t cell D015458||leukemia lymphocytic t cell D015458||leukemias t cell D015458||leukemias t cell lymphocytic D015458||leukemias t lymphocytic D015458||leukemia t cell lymphocytic D015458||leukemia t lymphocytic D015458||lymphocytic leukemias t D015458||lymphocytic leukemias t cell D015458||lymphocytic leukemia t D015458||lymphocytic leukemia t cell D015458||t cell leukemia D015458||t cell leukemias D015458||t cell lymphocytic leukemia D015458||t cell lymphocytic leukemias D015458||t lymphocytic leukemia D015458||t lymphocytic leukemias D014126||toxoplasmosis ocular D014126||ocular toxoplasmoses D014126||ocular toxoplasmosis D014126||toxoplasmoses ocular D015456||leukemia biphenotypic acute D015456||acute biphenotypic leukemia D015456||acute biphenotypic leukemias D015456||acute leukemia biphenotypic D015456||acute leukemia hybrid D015456||acute leukemia mixed lineage D015456||acute leukemias biphenotypic D015456||acute leukemias hybrid D015456||acute leukemias mixed lineage D015456||b and t cell acute lymphoblastic leukemia D015456||b and t cell leukemia acute D015456||biphenotypic acute leukemia D015456||biphenotypic acute leukemias D015456||biphenotypic leukemia acute D015456||biphenotypic leukemias acute D015456||hybrid acute leukemia D015456||hybrid acute leukemias D015456||leukemia acute biphenotypic D015456||leukemia hybrid acute D015456||leukemia lymphocytic acute mixed cell D015456||leukemia mixed b and t cell D015456||leukemia mixed cell D015456||leukemia mixed lineage acute D015456||leukemias acute biphenotypic D015456||leukemias biphenotypic acute D015456||leukemias hybrid acute D015456||leukemias mixed cell D015456||leukemias mixed lineage acute D015456||lymphocytic leukemia acute b and t cell D015456||mixed cell leukemia D015456||mixed cell leukemias D015456||mixed lineage acute leukemia D015456||mixed lineage acute leukemias D014125||toxoplasmosis congenital D014125||congenital infection toxoplasma gondii D014125||congenital toxoplasma gondii infection D014125||congenital toxoplasma infection D014125||congenital toxoplasma infections D014125||congenital toxoplasmoses D014125||congenital toxoplasmosis D014125||fetal toxoplasmoses D014125||fetal toxoplasmosis D014125||infection congenital toxoplasma D014125||infections congenital toxoplasma D014125||prenatal toxoplasmoses D014125||prenatal toxoplasmosis D014125||toxoplasma infection congenital D014125||toxoplasma infections congenital D014125||toxoplasmoses congenital D014125||toxoplasmoses fetal D014125||toxoplasmoses prenatal D014125||toxoplasmosis fetal D014125||toxoplasmosis prenatal D014124||toxoplasmosis animal D014124||animal toxoplasmoses D014124||animal toxoplasmosis D014124||toxoplasmoses animal C565747|604802||huntington disease like 3 C565747|604802||hdl3 C565747|604802||huntington disease like neurodegenerative disorder autosomal recessive D011535|100100||prune belly syndrome D011535|100100||abdominal muscle deficiency syndrome D011535|100100||abdominal muscles absence of with urinary tract abnormality and cryptorchidism D011535|100100||congenital absence of the abdominal muscles D011535|100100||eagle barrett syndrome D011535|100100||egbrs D011535|100100||obrinsky syndrome D011535|100100||prune belly syndromes D011535|100100||syndrome eagle barrett D011535|100100||syndrome obrinsky D011535|100100||syndrome prune belly D011535|100100||syndromes prune belly D015472||leukemia eosinophilic acute D015472||acute eosinophilic leukemia D015472||acute eosinophilic leukemias D015472||eosinophilic leukemia acute D015472||eosinophilic leukemias acute D015472||leukemia acute eosinophilic D015472||leukemias acute eosinophilic D014141||trachoma D014141||egyptian ophthalmia D014141||ophthalmia egyptian D014141||trachomas D015471||leukemia basophilic acute D015471||acute basophilic leukemia D015471||acute basophilic leukemias D015471||basophilic leukemia acute D015471||basophilic leukemias acute D015471||leukemia acute basophilic D015471||leukemias acute basophilic 205100|C565957||amyotrophic lateral sclerosis 2 juvenile 205100|C565957||als2 205100|C565957||alsj 205100|C565957||als juvenile C537492|108300||stickler syndrome type 1 C537492|108300||aom C537492|108300||arthroophthalmopathy hereditary progressive C537492|108300||stickler syndrome membranous vitreous type C537492|108300||stickler syndrome type i C537492|108300||stickler syndrome vitreous type 1 C537492|108300||stl1 D003483||cutis laxa D003483||dermatolyses D003483||dermatolysis D003483||dermatomegaly 604370||breast ovarian cancer familial susceptibility to 1 604370||breast cancer familial susceptibility to 1 included 604370||brovca1 604370||ovarian cancer familial susceptibility to 1 included D003490||cyanosis D003490||cyanoses C562733|136880||fundus albipunctatus C562733|136880||retinitis punctata albescens C562733|136880||retinitis punctata albescens included 603040||tumor suppressor gene on chromosome 11 603040||nonsmall cell lung cancer suppressor 603040||tsg11 203100|C537728||oculocutaneous albinism type 1 203100|C537728||albinism 1 203100|C537728||albinism i 203100|C537728||albinism oculocutaneous type ia 203100|C537728||atn 203100|C537728||oca1 203100|C537728||oca1a 203100|C537728||oculocutaneous albinism type 1a 203100|C537728||oculocutaneous albinism type i 203100|C537728||oculocutaneous albinism tyrosinase negative 145701|C536605||ambras syndrome 145701|C536605||htc1 145701|C536605||hypertrichosis universalis congenita ambras type 603041||mitochondrial dna depletion syndrome 1 mngie type 603041||mitochondrial neurogastrointestinal encephalopathy syndrome tymp related 603041||mngie tymp related 603041||mtdps1 603041|C537477||myoneurogastrointestinal encephalopathy syndrome 603041|C537477||polip syndrome 603041|C537477||polyneuropathy ophthalmoplegia leukoencephalopathy and intestinal pseudoobstruction 607085|C564628||myasthenia gravis with thymus hyperplasia 607085|C564628||myas1 D015465||leukemia myeloid accelerated phase D015465||leukemia myelogenous aggressive phase D015465||leukemia myeloid aggressive phase D015465||myelogenous leukemia chronic aggressive phase D015465||myeloid leukemia chronic accelerated phase D015465||myeloid leukemia chronic aggressive phase D014134||tracheal neoplasms D014134||neoplasms tracheal D014134||neoplasm tracheal D014134||tracheal neoplasm D014133||tracheal diseases D014133||diseases tracheal D014133||disease tracheal D014133||tracheal disease D015463||leukemia prolymphocytic D015463||leukemias prolymphocytic D015463||prolymphocytic leukemia D015463||prolymphocytic leukemias D014138||tracheoesophageal fistula D014138||esophagotracheal fistula D014138||esophagotracheal fistulas D014138||fistula esophagotracheal D014138||fistulas esophagotracheal D014138||fistulas tracheoesophageal D014138||fistula tracheoesophageal D014138||tracheoesophageal fistulas 171200||thiourea tasting 171200||phenylthiocarbamide tasting included 171200||prop tasting included 171200||propylthiouracil tasting included 171200||ptc tasting included D014137||tracheobronchomegaly D014137||congenital tracheobronchomegalies D014137||congenital tracheobronchomegaly D014137||mounier kuhn syndrome D014137||tracheobronchomegalies D014137||tracheobronchomegalies congenital D014137||tracheobronchomegaly congenital D015467||leukemia neutrophilic chronic D015467||chronic neutrophilic leukemia D015467||chronic neutrophilic leukemias D015467||leukemia chronic neutrophilic D015467||leukemias chronic neutrophilic D015467||neutrophilic leukemia chronic D015467||neutrophilic leukemias chronic D014136||tracheitis D014136||tracheitides D015466||leukemia myeloid chronic phase D015466||granulocytic leukemia chronic stable phase D015466||leukemia granulocytic chronic phase D015466||leukemia myelogenous chronic phase D015466||leukemia myeloid stable phase D015466||myelogenous leukemia chronic chronic phase D015466||myeloid leukemia chronic chronic phase D015466||myeloid leukemia chronic stable phase D014135||tracheal stenosis D014135||stenoses tracheal D014135||stenosis tracheal D014135||tracheal stenoses C567359|612290||microtia hearing impairment and cleft palate C567359|612290||microtia with or without hearing impairment included D016770||ciliophora infections D016770||ciliophora infection D016770||infection ciliophora D016770||infections ciliophora D002128||calcium metabolism disorders D002128||calcium metabolism disorder D002128||disorder calcium metabolism D002128||disorders calcium metabolism D015493|159580||paraparesis tropical spastic D015493|159580||familial spastic paraparesis htlv 1 associated D015493|159580||ham D015493|159580||htlv 1 associated myelopathies D015493|159580||htlv 1 associated myelopathy D015493|159580||htlv i associated myelopathies D015493|159580||htlv i associated myelopathy D015493|159580||htlv i associated myelopathy tropical spastic paraparesis D015493|159580||human t lymphotropic virus type 1 associated myelopathy D015493|159580||myelopathies htlv 1 associated D015493|159580||myelopathies htlv i associated D015493|159580||myelopathy htlv 1 associated D015493|159580||myelopathy htlv i associated D015493|159580||myelopathy human t lymphotropic virus type 1 associated D015493|159580||parapareses tropical spastic D015493|159580||paraplegias tropical spastic D015493|159580||paraplegia tropical spastic D015493|159580||spastic parapareses tropical D015493|159580||spastic paraparesis tropical D015493|159580||spastic paraplegias tropical D015493|159580||spastic paraplegia tropical D015493|159580||tropical spastic parapareses D015493|159580||tropical spastic paraparesis D015493|159580||tropical spastic paraplegia D015493|159580||tropical spastic paraplegias D003457||cryptosporidiosis D003457||cryptosporidioses D003453||cryptococcosis D003453||cryptococcoses D003453||toruloses D003453||torulosis D015439||leprosy borderline D015439||borderline leprosies D015439||borderline leprosy D015439||dimorphous leprosies D015439||dimorphous leprosy D015439||leprosies borderline D015439||leprosies dimorphous D015439||leprosy dimorphous D016769||embolism and thrombosis D016769||thrombosis and embolism 140600|D010003||osteoarthritis 140600|D010003||arthritides degenerative 140600|D010003||arthritis degenerative 140600|D010003||degenerative arthritides 140600|D010003||degenerative arthritis 140600|D010003||dipoa 140600|D010003||goa1 140600|D010003||hand osteoarthritis hoa heberden nodes included 140600|D010003||oa 140600|D010003||oadip 140600|D010003||os1 140600|D010003||os2 140600|D010003||os3 140600|D010003||os4 140600|D010003||os5 140600|D010003||os6 140600|D010003||osteoarthritides 140600|D010003||osteoarthritis generalized without dysplasia 140600|D010003||osteoarthritis of distal interphalangeal joints 140600|D010003||osteoarthritis of hip female specific susceptibility to 140600|D010003|D020370||osteoarthritis of knee 140600|D010003||osteoarthritis of knee hip 140600|D010003||osteoarthritis susceptibility 1 140600|D010003||osteoarthritis susceptibility 2 140600|D010003||osteoarthritis susceptibility 3 140600|D010003||osteoarthritis susceptibility 4 140600|D010003||osteoarthritis susceptibility 5 140600|D010003||osteoarthritis susceptibility 6 140600|D010003||osteoarthroses 140600|D010003||osteoarthrosis 140600|D010003||osteoarthrosis deformans D015432||glomerulonephritis membranoproliferative D015432||ddd mpgnii D015432||dense deposit disease D015432||glomerulonephritides hypocomplementemic D015432||glomerulonephritides membranoproliferative D015432||glomerulonephritides mesangiocapillary D015432||glomerulonephritis hypocomplementemic D015432||glomerulonephritis mesangiocapillary D015432||hypocomplementemic glomerulonephritides D015432||hypocomplementemic glomerulonephritis D015432||membranoproliferative glomerulonephritides D015432||membranoproliferative glomerulonephritis D015432||membranoproliferative glomerulonephritis subendothelial D015432||membranoproliferative glomerulonephritis type i D015432||membranoproliferative glomerulonephritis type ii D015432||membranoproliferative glomerulonephritis type iii D015432||mesangiocapillary glomerulonephritides D015432||mesangiocapillary glomerulonephritis D015432||mesangiocapillary glomerulonephritis type i D015432||mesangiocapillary glomerulonephritis type ii D015432||mpgn D015432||mpgnii D015432||subendothelial membranoproliferative glomerulonephritis D015432||type ii mpgn C565171|120502||branchiootic syndrome 2 C565171|120502||bos2 C565171|120502||bo syndrome 2 D015431||weight loss D015431||losses weight D015431||loss weight D015431||reductions weight D015431||reduction weight D015431||weight losses D015431||weight reduction D015431||weight reductions D015430||weight gain D015430||gains weight D015430||gain weight D015430||weight gains D016766||feline infectious peritonitis D016766||feline infectious peritonitides D016766||infectious peritonitides feline D016766||infectious peritonitis feline D016766||peritonitis feline infectious D016766||peritonitis infectious feline C538154|186100||syndactyly type 3 C538154|186100||familial syndactyly type 3 C538154|186100||ring and little finger syndactyly C538154|186100||sdty3 C538154|186100||syndactyly of fingers four and five C538154|186100||syndactyly of fingers iv and v C538154|186100||syndactyly of the ring and little finger C538154|186100||syndactyly type iii D016767||caroli disease D016767||caroli apos s disease D016767||carolis disease D016767||caroli apos s syndrome D016767||carolis syndrome D016767||caroli syndrome D016767||disease caroli D016767||disease caroli apos s D016767||syndrome caroli apos s D015436||panniculitis peritoneal D015436||lipodystrophy mesenteric D015436||liposclerotic mesenteritis D015436||mesenteric lipodystrophy D015436||mesenteric panniculitis D015436||mesenteric weber christian disease D015436||mesenteritis liposclerotic D015436||mesenteritis retractile D015436||mesenteritis sclerosing D015436||omental panniculitis D015436||panniculitis mesenteric D015436||panniculitis omental D015436||peritoneal panniculitis D015436||retractile mesenteritis D015436||sclerosing mesenteritis 209300|C538259||congenital atransferrinemia 209300|C538259||atransferrinemia 209300|C538259||familial hypotransferrinemia 209300|C538259||hypotransferrinemia familial 209300|C538259||hypotransferrinemia familial transferrin serum level quantitative trait locus 1 included 209300|C538259||tfqtl1 included D015435||panniculitis lupus erythematosus D015435||lupus erythematosus panniculitides D015435||lupus erythematosus panniculitis D015435||lupus erythematosus profundus D015435||lupus panniculitides D015435||lupus panniculitis D015435||lupus profundus D015435||panniculitides lupus D015435||panniculitides lupus erythematosus D015435||panniculitis lupus D015434||panniculitis D015434||cold panniculitides D015434||cold panniculitis D015434||panniculitides D015434||panniculitides cold D015434||panniculitis cold D015434||panniculitis subacute nodular migratory D014103||torticollis D014103||cervical dystonia D014103||intermittent torticollis D014103||psychogenic torticollis D014103||spasmodic torticollis D014103||torticollis intermittent D014103||torticollis psychogenic D014103||torticollis spasmodic D014103||wryneck D015433||glomerulonephritis membranous D015433||extramembranous glomerulopathy D015433||glomerulonephritides idiopathic membranous D015433||glomerulonephritides membranous D015433||glomerulonephritis idiopathic membranous D015433||glomerulonephropathy membranous D015433||glomerulopathy extramembranous D015433||glomerulopathy membranous D015433||heymann nephritis D015433||idiopathic membranous glomerulonephritides D015433||idiopathic membranous glomerulonephritis D015433||idiopathic membranous nephropathy D015433||membranous glomerulonephritides D015433||membranous glomerulonephritides idiopathic D015433||membranous glomerulonephritis D015433||membranous glomerulonephritis idiopathic D015433||membranous glomerulonephropathy D015433||membranous glomerulopathy D015433||membranous nephropathy D015433||membranous nephropathy idiopathic D015433||nephritis heymann D015433||nephropathy idiopathic membranous D015433||nephropathy membranous D014102||torsion abnormality D014102||abnormalities torsion D014102||abnormality torsion D014102||torsion abnormalities C537842|603386||nonmedullary thyroid carcinoma with or without cell oxyphilia C537842|603386||tco C537842|603386||tco1 C537842|603386||thyroid carcinoma nonmedullary with or without cell oxyphilia C531821||stenotrophomonas maltophilia bacteremia C566857|204500||ceroid lipofuscinosis neuronal 2 C566857|204500||ceroid lipofuscinosis neuronal 2 variable age at onset C566857|204500||cln2 C566857|204500||jansky bielschowsky disease neuronal ceroid lipofuscinosis late infantile included C566857|204500||lincl included 300554|D053098||familial hypophosphatemic rickets 300554|D053098||hereditary hypophosphatemic rickets 300554|D053098||hereditary vitamin d resistant rickets 300554|D053098||hpdr 300554|D053098||hyp 300554|D053098||hypophosphatemia x linked 300554|D053098||hypophosphatemic rickets familial 300554|D053098||hypophosphatemic rickets hereditary 300554|D053098||hypophosphatemic rickets x linked 300554|D053098||hypophosphatemic rickets x linked dominant 300554|D053098||hypophosphatemic rickets x linked recessive 300554|D053098|D063730||hypophosphatemic vitamin d resistant rickets 300554|D053098||rickets familial hypophosphatemic 300554|D053098||rickets hereditary hypophosphatemic 300554|D053098||rickets x linked hypophosphatemic 300554|D053098|D063730||vitamin d resistant rickets 300554|D053098||vitamin d resistant rickets hereditary 300554|D053098||vitamin d resistant rickets x linked 300554|D053098||xlh 300554|D053098||xlhr 300554|D053098||x linked hypophosphatemia 300554|D053098||x linked hypophosphatemic rickets D016780||malaria vivax D016780||malaria plasmodium vivax D016780||plasmodium vivax malaria D016780||vivax malaria D016781||toxoplasmosis cerebral D016781||central nervous system toxoplasmosis D016781||cerebral toxoplasmosis D016781||intracranial toxoplasmosis D016781||neurotoxoplasmosis D016781||toxoplasmoses cerebral D016781||toxoplasmosis central nervous system D016781||toxoplasmosis intracranial 247200|D054221||classical lissencephalies and subcortical band heterotopias 247200|D054221||agyria pachygyria band spectrum 247200|D054221||band heterotopia lissencephaly subcortical 247200|D054221||chromosome 17p13 3 deletion syndrome 247200|D054221||classical lissencephalies 247200|D054221||classical lissencephaly 247200|D054221||classical lissencephaly syndrome 247200|D054221||classic lissencephaly 247200|D054221||dc syndrome included 247200|D054221||double cortex syndrome 247200|D054221||double cortex syndrome included 247200|D054221||heterotopia lissencephaly subcortical band 247200|D054221||heterotopias lissencephaly subcortical band 247200|D054221||heterotopias subcortical band 247200|D054221||heterotopias subcortical laminar 247200|D054221||heterotopia subcortical band 247200|D054221||heterotopia subcortical laminar 247200|D054221||isolated lissencephaly sequence 247200|D054221||lissencephalies classical 247200|D054221||lissencephalies type 1 247200|D054221||lissencephalies x linked 247200|D054221|607432|D054082||lissencephaly 1 247200|D054221||lissencephaly and agenesis of corpus callosum subcortical laminar heterotopia x linked included 247200|D054221||lissencephaly classic 247200|D054221||lissencephaly classical 247200|D054221||lissencephaly miller dieker 247200|D054221|607432|D054082||lissencephaly sequence isolated 247200|D054221||lissencephaly subcortical band heterotopia 247200|D054221||lissencephaly subcortical band heterotopias 247200|D054221||lissencephaly syndrome miller dieker 247200|D054221||lissencephaly type 1 247200|D054221||lissencephaly x linked 247200|D054221||lissencephaly x linked 1 247200|D054221||lisx1 247200|D054221||mdcr included 247200|D054221||mdls 247200|D054221||mds chromosome 17p13 3 deletion syndrome included 247200|D054221||miller dieker lissencephaly 247200|D054221||miller dieker lissencephaly syndrome 247200|D054221||miller dieker syndrome 247200|D054221||miller dieker syndrome chromosome region included 247200|D054221|607432|D054082||sbh included 247200|D054221|607432|D054082||sclh included 247200|D054221||subcortical band heterotopia 247200|D054221||subcortical band heterotopias 247200|D054221||subcortical band heterotopia x linked included 247200|D054221||subcortical laminar heterotopia 247200|D054221||syndrome double cortex 247200|D054221||syndrome miller dieker 247200|D054221||syndrome miller dieker lissencephaly 247200|D054221||type 1 lissencephalies 247200|D054221||type 1 lissencephaly 247200|D054221||x linked lissencephalies 247200|D054221||x linked lissencephaly 247200|D054221||xlis D002137||calculi D002137||biliary or urinary stones D002137||calculus C531833||ophthalmoplegia painful C531833||nonspecific inflammation of the cavernous sinus or superior orbital fissure C531834||toxocara canis infection canine roundworms C531834||human infection with the larvae of canine or feline roundworms C531834||toxocara catis infection feline roundworms D015448||leukemia b cell D015448||b cell leukemia D015448||b cell leukemias D015448||b cell lymphocytic leukemia D015448||b cell lymphocytic leukemias D015448||b lymphocytic leukemia D015448||b lymphocytic leukemias D015448||leukemia b cell lymphocytic D015448||leukemia b lymphocytic D015448||leukemia lymphocytic b cell D015448||leukemias b cell D015448||leukemias b cell lymphocytic D015448||leukemias b lymphocytic D015448||lymphocytic leukemia b cell D015448||lymphocytic leukemias b cell C531836||congenital agenesis of the tricuspid valve C562963|113500||brachyolmia type 3 C562963|113500||brachyolmia autosomal dominant C562963|113500||brachyrachia D016779||malaria cerebral D016779||cerebral malaria D016779||malaria meningitis D016779||meningitis malaria C565394|250940||methylcobalamin deficiency cblg type C565394|250940||hmag C565394|250940||homocystinuria megaloblastic anemia cblg complementation type C565394|250940||homocystinuria megaloblastic anemia due to defect in cobalamin metabolism cblg complementation type C565394|250940|C537426||methionine synthase deficiency D016776||blastocystis infections D016776||blastocystis infection D016776||infection blastocystis D016776||infections blastocystis D015441||leprosy tuberculoid D015441||leprosies macular D015441||leprosies neural D015441||leprosies tuberculoid D015441||leprosy macular D015441||leprosy neural D015441||macular leprosies D015441||macular leprosy D015441||neural leprosies D015441||neural leprosy D015441||tuberculoid leprosies D015441||tuberculoid leprosy D015440||leprosy lepromatous D015440||cutaneous leprosies D015440||cutaneous leprosy D015440||lepromatous leprosies D015440||lepromatous leprosy D015440||leprosies cutaneous D015440||leprosies lepromatous D015440||leprosies nodular D015440||leprosy cutaneous D015440||leprosy nodular D015440||nodular leprosies D015440||nodular leprosy D016778||malaria falciparum D016778||malaria plasmodium falciparum D016778||plasmodium falciparum malaria D014115||toxemia D014115||toxemias D016773||leishmaniasis cutaneous D016773||american leishmaniasis D016773||cutaneous leishmaniases D016773||cutaneous leishmaniasis D016773||leishmaniases cutaneous D016773||leishmaniasis american D016773||leishmaniasis new world D016773||leishmaniasis old world D016773||new world leishmaniasis D016773||old world leishmaniasis D016773||oriental sore D016773||sore oriental D016774||leishmaniasis diffuse cutaneous D016774||cutaneous leishmaniases diffuse D016774||cutaneous leishmaniasis diffuse D016774||diffuse cutaneous leishmaniases D016774||diffuse cutaneous leishmaniasis D016774||leishmaniases diffuse cutaneous C535492||epidermolysis bullosa late onset localized junctional with mental retardation C535492||epidermolysis bullosa simplex localisata associated with anodontia hair and nail disorders D004889||erysipelothrix infections D004889||erysipelothrix infection D004889||infection erysipelothrix D004889||infections erysipelothrix D003557||phyllodes tumor D003557||cystosarcoma phyllodes D003557||cystosarcoma phyllodes malignant D003557||cystosarcoma phylloides D003557||malignant cystosarcoma phyllodes D003557||phyllodes tumors D003557||tumor phyllodes D003557||tumors phyllodes C535496||epilepsy occipital calcifications C535496||bilateral occipital calcifications with epilepsy C535496||epilepsy with bilateral occipital calcifications C535496||familial unilateral and bilateral occipital calcifications and epilepsy C535497||epilepsy telangiectasia D004884||eructation D004884||belching D004884||belchings D004884||eructations D004887||erysipeloid D004887||erysipeloids 308230|D053307||hyper igm immunodeficiency syndrome type 1 308230|D053307||higm 308230|D053307||higm1 308230|D053307||higm1 syndrome 308230|D053307||higm1 syndromes 308230|D053307||hyper igm immunodeficiencies x linked 308230|D053307||hyper igm immunodeficiency x linked 308230|D053307|605258|D053306||hyper igm syndrome 308230|D053307||hyper igm syndrome 1 308230|D053307||ihis 308230|D053307||immunodeficiencies x linked hyper igm 308230|D053307||immunodeficiency with hyper igm type 1 308230|D053307||immunodeficiency x linked hyper igm 308230|D053307||syndrome 1 hyper igm 308230|D053307||syndrome higm1 308230|D053307||syndromes higm1 308230|D053307||xhim 308230|D053307||x linked hyper igm immunodeficiencies 308230|D053307||x linked hyper igm immunodeficiency 308230|D053307||x linked hyper igm syndrome D004886||erysipelas 219900|C562683||cystinosis late onset juvenile or adolescent nephropathic type 219900|C562683||cystinosis intermediate D003556||cystitis D003556||cystitides D004881||ergotism D004881||ergotisms D004881||ergot poisoning D004881||ergot poisonings D004881||fire st anthonys D004881||poisoning ergot D004881||poisonings ergot D004881||saint anthony fire D004881||saint anthony apos s fire D004881||saint anthonys fire D004881||st anthony fire D004881||st anthony apos s fire D004881||st anthonys fire D003551||cysticercosis D003551||cysticercoses D004890||erythema D004890||erythemas D014205||trench fever D014205||fevers trench D014205||fever trench D014205||trench fevers C536887|118100||klippel feil syndrome dominant type C536887|118100||cervical vertebral fusion autosomal dominant C536887|118100||kfs C536887|118100||kfs1 C536887|118100||klippel feil syndrome 1 autosomal dominant C536887|118100||klippel feil syndrome autosomal dominant D016868||serratia infections D016868||infection serratia D016868||infections serratia D016868||serratia infection D016869||ureaplasma infections D016869||infections ureaplasma D016869||infection ureaplasma D016869||ureaplasma infection C535489||chromosome 14 trisomy mosaic C535489||trisomy 14 mosaic C535489||trisomy 14 mosaicism C535489||trisomy 14 mosaicism syndrome D016863||bacillaceae infections D016863||bacillaceae infection D016863||infection bacillaceae D016863||infections bacillaceae C535488||chromosome 14 trisomy C535488||trisomy 14 D016864||li fraumeni syndrome 167959||human papillomavirus type 18 integration site 1 167959||hpv18i1 167959||papillomavirus type 18 integration site 1 D016866||bacteroidaceae infections D016866||bacteroidaceae infection D016866||infection bacteroidaceae D016866||infections bacteroidaceae D014202||tremor D014202||action tremor D014202||action tremors D014202||coarse tremor D014202||coarse tremors D014202||continuous tremor D014202||continuous tremors D014202||darkness tremor D014202||darkness tremors D014202||fine tremor D014202||fine tremors D014202||intention tremor D014202||intention tremors D014202||intermittent tremor D014202||intermittent tremors D014202||involuntary quiver D014202||involuntary quivers D014202||limb tremor D014202||limb tremors D014202||massive tremor D014202||massive tremors D014202||muscle tremor D014202||muscle tremors D014202||neonatal tremor D014202||neonatal tremors D014202||nerve tremor D014202||nerve tremors D014202||passive tremor D014202||passive tremors D014202||perioral tremor D014202||perioral tremors D014202||persistent tremor D014202||persistent tremors D014202||pill rolling tremor D014202||pill rolling tremors D014202||quiver involuntary D014202||quivers involuntary D014202||resting tremor D014202||resting tremors D014202||rest tremor D014202||rest tremors D014202||rolling tremor pill D014202||rolling tremors pill D014202||saturnine tremor D014202||saturnine tremors D014202||semirhythmic tremor D014202||semirhythmic tremors D014202||senile tremor D014202||senile tremors D014202||static tremor D014202||static tremors D014202||tremor action D014202||tremor coarse D014202||tremor continuous D014202||tremor darkness D014202||tremor fine D014202||tremor intention D014202||tremor intermittent D014202||tremor limb D014202||tremor massive D014202||tremor muscle D014202||tremor neonatal D014202||tremor nerve D014202||tremor passive D014202||tremor perioral D014202||tremor persistent D014202||tremor pill rolling D014202||tremor rest D014202||tremor resting D014202||tremors D014202||tremors action D014202||tremor saturnine D014202||tremors coarse D014202||tremors continuous D014202||tremors darkness D014202||tremor semirhythmic D014202||tremor senile D014202||tremors fine D014202||tremors intention D014202||tremors intermittent D014202||tremors limb D014202||tremors massive D014202||tremors muscle D014202||tremors neonatal D014202||tremors nerve D014202||tremors passive D014202||tremors perioral D014202||tremors persistent D014202||tremors pill rolling D014202||tremors rest D014202||tremors resting D014202||tremors saturnine D014202||tremors semirhythmic D014202||tremors senile D014202||tremors static D014202||tremor static D014201||trematode infections D014201||fasciolopsiases D014201||fasciolopsiasis D014201||infections trematode D014201||infection trematode D014201||metagonimiases D014201||metagonimiasis D014201||trematode infection 604233|C565809||generalized epilepsy with febrile seizures plus type 1 604233|C565809||gefs 1 604233|C565809||gefsp1 604233|C565809||gefs type 1 D016862||tuberculoma intracranial D016862||abscess tubercular intracranial D016862||intracranial tuberculoma D016862||intracranial tuberculomas D016862||tuberculomas intracranial D053706||typhlitis D053706||cecitis D053706||neutropenic typhlitis D053706||typhlitis neutropenic C563762|609255||febrile convulsions familial 5 C563762|609255||convulsions familial febrile 5 C563762|609255||feb5 C563762|609255||febrile seizures familial 5 C563762|609255||seizures familial febrile 5 D004899||erythroblastosis fetal D004899||erythroblastoses fetal D004899||erythroblastosis fetali D004899||erythroblastosis fetalis D004899||fetal erythroblastoses D004899||fetal erythroblastosis D004899||fetali erythroblastosis D004899||fetalis erythroblastosis D004899||hemolytic disease of newborn D004899||newborn hemolytic disease D004899||newborn hemolytic diseases 122470|D003635||de lange syndrome 122470|D003635||amstelodamensis typus degenerativus 122470|D003635||bdls 122470|D003635||brachmann de lange syndrome 122470|D003635||cdl 122470|D003635||cdls 122470|D003635||cdls1 122470|D003635||cdls2 122470|D003635||cdls3 122470|D003635||cdls x linked 122470|D003635||cornelia de lange syndrome 122470|D003635||cornelia de lange syndrome 1 122470|D003635||cornelia de lange syndrome 2 122470|D003635||cornelia de lange syndrome 3 122470|D003635||cornelia de lange syndrome x linked 122470|D003635||de lange apos s syndrome 122470|D003635||syndrome brachmann de lange 122470|D003635||syndrome de lange 122470|D003635||syndrome de lange apos s 122470|D003635||typus degenerativus amstelodamensis 300428|C563135||mental retardation x linked 2 300428|C563135||mrx2 D002239||carbohydrate metabolism inborn errors D002239||carbohydrate metabolism inborn error 187500|D013771||tetralogy of fallot 187500|D013771||fallot apos s tetralogy 187500|D013771||fallots tetralogy 187500|D013771||fallot tetralogy 187500|D013771||tetralogy fallot 187500|D013771||tetralogy fallots 187500|D013771||tetralogy fallot apos s 187500|D013771||tof D004892||erythema multiforme D003560||cysts D003560||cyst D004891||erythema induratum D004891||bazin disease D004891||bazin apos s disease D004891||bazins disease D004891||disease bazin D004891||disease bazin apos s D004891||tuberculosis cutis indurativa D004894||erythrasma D004893||erythema nodosum D016878||poems syndrome D016878||crow fukase syndrome D016878||organomegalies polyneuropathy D016878||organomegaly polyneuropathy D016878||polyneuropathy organomegalies D016878||polyneuropathy organomegaly D016878||polyneuropathy organomegaly endocrinopathy m protein and skin changes syndrome D016878||syndrome crow fukase D016878||syndrome poems D016878||syndrome takatsuki apos s D016878||takatsuki apos s syndrome D016878||takatsuki syndrome D014211||treponemal infections D014211||bejel D014211||bejels D014211||infections treponemal D014211||infection treponemal D014211||treponemal infection D016870||neisseriaceae infections D016870||infection neisseriaceae D016870||infections neisseriaceae D016870||neisseriaceae infection D016871||pasteurellaceae infections D016871||infection pasteurellaceae D016871||infections pasteurellaceae D016871||pasteurellaceae infection D016873||ehrlichiosis D016873||ehrlichioses D053717||pneumonia ventilator associated D053717||ventilator associated pneumonia D053716||female athlete triad syndrome D053716||female athlete triad D053714||aspermia D002205||caplan syndrome D002205||caplan apos s syndrome D002205||caplans syndrome D002205||caplan syndromes D003536||cystadenocarcinoma D003536||cystadenocarcinomas D003537||cystadenoma D003537||cystadenomas D053718||scleromyxedema D053718||lichen myxedematosus D053718||mucinosis papular D053718||myxedematosus lichen D053718||papular mucinosis D004863||equinus deformity D004863||contracture equinus D004863||contractures equinus D004863||deformities equinus D004863||deformity equinus D004863||equinus contracture D004863||equinus contractures D004863||equinus deformities D004863||talipes equinus 300257|D052120||glycogen storage disease type iib 300257|D052120||antopol disease 300257|D052120||cardiomyopathies glycogen storage 300257|D052120||cardiomyopathy glycogen storage 300257|D052120||danon disease 300257|D052120||disease antopol 300257|D052120||glycogen storage cardiomyopathies 300257|D052120||glycogen storage cardiomyopathy 300257|D052120||glycogen storage disease iib 300257|D052120||glycogen storage disease limited to the heart 300257|D052120||glycogen storage disease type 2b 300257|D052120||gsd2b formerly 300257|D052120||gsd iib formerly 300257|D052120||lysosomal glycogen storage disease with normal acid maltase 300257|D052120||lysosomal glycogen storage disease without acid maltase deficiency 300257|D052120||lysosomal glycogen storage disease without acid maltase deficiency formerly 300257|D052120||pseudoglycogenosis 2 300257|D052120||pseudoglycogenosis 2s 300257|D052120||pseudoglycogenosis ii 300257|D052120||pseudoglycogenosis iis 300257|D052120||vacuolar cardiomyopathy and myopathy x linked 300257|D052120||x linked vacuolar cardiomyopathy and myopathy 254800|D020194||unverricht lundborg syndrome 254800|D020194||baltic myoclonic epilepsies 254800|D020194||baltic myoclonic epilepsy 254800|D020194||baltic myoclonus 254800|D020194||baltic myoclonus epilepsies 254800|D020194||baltic myoclonus epilepsy 254800|D020194||diseases unverricht 254800|D020194||diseases unverricht lundborg 254800|D020194||disease unverricht 254800|D020194||disease unverricht lundborg 254800|D020194||epilepsies baltic myoclonic 254800|D020194||epilepsies baltic myoclonus 254800|D020194||epilepsy baltic myoclonic 254800|D020194||epilepsy baltic myoclonus 254800|D020194||epilepsy mediterranean myoclonic 254800|D020194||epilepsy progressive myoclonic 1 254800|D020194||epilepsy progressive myoclonic 1a 254800|D020194||epilepsy progressive myoclonic type 1 254800|D020194||epilepsy progressive myoclonus 1 254800|D020194||epm1 254800|D020194||epm1a 254800|D020194||lundborg unverricht syndrome 254800|D020194||mediterranean myoclonic epilepsy 254800|D020194||myoclonic epilepsies baltic 254800|D020194||myoclonic epilepsy baltic 254800|D020194||myoclonic epilepsy mediterranean 254800|D020194||myoclonic epilepsy of unverricht and lundborg 254800|D020194||myoclonus baltic 254800|D020194||myoclonus epilepsies baltic 254800|D020194||myoclonus epilepsy baltic 254800|D020194||myoclonus progressive epilepsy of unverricht and lundborg 254800|D020194||pme 254800|D020194|D020191|125370||progressive myoclonic epilepsy 254800|D020194||progressive myoclonus epilepsy 1 254800|D020194||progressive myoclonus epilepsybaltic myoclonic epilepsy 254800|D020194||syndrome lundborg unverricht 254800|D020194||syndrome unverricht lundborg 254800|D020194||uld 254800|D020194||unverricht disease 254800|D020194||unverricht diseases 254800|D020194||unverricht lundborg disease 254800|D020194||unverricht lundborg diseases 611403||asthma related traits susceptibility to 6 611403||asrt6 D016849||keratitis herpetic D016849||herpes simplex keratitides D016849||herpes simplex keratitis D016849||herpes simplex ocular D016849||herpetic keratitides D016849||herpetic keratitis D016849||keratitides herpes simplex D016849||keratitides herpetic D016849||keratitis herpes simplex D016849||ocular herpes simplex C567832|612997||spermatogenic failure 7 C567832|612997||male infertility nonsyndromic autosomal recessive C567832|612997||miar C567832|612997||spgf7 D053713||azoospermia D015511||goat diseases D015511||caprine disease D015511||caprine diseases D015511||disease caprine D015511||disease goat D015511||diseases caprine D015511||diseases goat D015511||goat disease 161200|D009261||nail patella syndrome 161200|D009261||disease fong 161200|D009261||fong disease 161200|D009261||hereditary onycho osteodysplasia 161200|D009261||hereditary osteo onychodysplasia 161200|D009261||hereditary osteo onychodysplasias 161200|D009261||nps 161200|D009261||nps1 161200|D009261||onychoosteodysplasia 161200|D009261||osteo onychodysplasia hereditary 161200|D009261||osteo onychodysplasias hereditary 161200|D009261||osterreicher syndrome 161200|D009261||pelvic horn syndrome 161200|D009261||syndrome nail patella 161200|D009261||syndrome osterreicher 161200|D009261||syndrome pelvic horn 161200|D009261||syndrome turner kieser 161200|D009261||turner kieser syndrome 167960||human papillomavirus type 18 integration site 2 167960||hpv18i2 167960||papillomavirus type 18 integration site 2 D015526||aids dementia complex D015526||acquired immune deficiency syndrome dementia complex D015526||aids encephalopathies D015526||aids encephalopathy D015526||aids related dementia complex D015526||complex aids dementia D015526||complex aids related dementia D015526||dementia complex acquired immune deficiency syndrome D015526||dementia complex aids D015526||dementia complex aids related D015526||dementia hiv D015526||dementias hiv D015526||encephalopathies aids D015526||encephalopathies hiv D015526||encephalopathy aids D015526||encephalopathy hiv D015526||hiv 1 associated cognitive motor complex D015526||hiv 1 cognitive and motor complex D015526||hiv associated cognitive motor complex D015526||hiv dementia D015526||hiv dementias D015526||hiv encephalopathies D015526||hiv encephalopathy C565058|130600||elliptocytosis 2 C565058|130600||el2 C565058|130600||elliptocytosis rhesus unlinked type D016857||hypocapnia D016857||hypocapnias 255200||myopathy centronuclear 2 255200||cnm2 D015529||choledochal cyst D015529||bile duct cyst D015529||bile duct cysts D015529||choledochal cyst congenital D015529||choledochal cyst diverticulum D015529||choledochal cyst intrahepatic D015529||choledochal cyst multiple D015529||choledochal cysts D015529||choledochal cysts congenital D015529||choledochal cysts diverticulum D015529||choledochal cysts intrahepatic D015529||choledochal cysts multiple D015529||choledochal cyst type i D015529||choledochal cyst type ii D015529||choledochal cyst type iii D015529||choledochal cyst type iv D015529||choledochal cyst type v D015529||choledochal diverticulum D015529||choledochal diverticulums D015529||choledochocele D015529||choledochoceles D015529||common bile duct cyst D015529||congenital choledochal cyst D015529||congenital choledochal cysts D015529||cyst bile duct D015529||cyst choledochal D015529||cyst common bile duct D015529||cyst congenital choledochal D015529||cyst intrahepatic choledochal D015529||cyst multiple choledochal D015529||cysts bile duct D015529||cysts choledochal D015529||cysts common bile duct D015529||cysts congenital choledochal D015529||cysts intrahepatic choledochal D015529||cysts multiple choledochal D015529||diverticulum choledochal D015529||diverticulum choledochal cyst D015529||diverticulum choledochal cysts D015529||diverticulums choledochal D015529||duct cyst bile D015529||duct cysts bile D015529||intrahepatic choledochal cyst D015529||intrahepatic choledochal cysts D015529||multiple choledochal cyst D015529||multiple choledochal cysts D015524||sphenoid sinusitis D015524||sinusitides sphenoid D015524||sinusitides sphenoidal D015524||sinusitis sphenoid D015524||sinusitis sphenoidal D015524||sphenoidal sinusitides D015524||sphenoidal sinusitis D015524||sphenoid sinusitides C567065|300660||leukoencephalopathy with metaphyseal chondrodysplasia C567065|300660||lkmcd D015523||maxillary sinusitis D015523||maxillary sinusitides D015523||sinusitides maxillary D015523||sinusitis maxillary D015522||frontal sinusitis D015522||frontal sinusitides D015522||sinusitides frontal D015522||sinusitis frontal D015521||ethmoid sinusitis D015521||ethmoidal sinusitides D015521||ethmoidal sinusitis D015521||ethmoid sinusitides D015521||sinusitides ethmoid D015521||sinusitides ethmoidal D015521||sinusitis ethmoid D015521||sinusitis ethmoidal C536780||t cell immunodeficiency primary C536780||primary t cell immunodeficiency disorders C567595|300455||retinitis pigmentosa x linked and sinorespiratory infections with or without deafness C535450||chromosome 13p duplication C535450||chromosome 13p trisomy C535450||duplication 13p C535450||trisomy 13p C536784||tabatznik syndrome C536784||heart hand syndrome 2 D020096||zygomycosis D020096||entomophthoramycoses D020096||entomophthoramycosis D020096||phycomycoses D020096||phycomycosis D020096||zygomycoses D004844||epistaxis D004844||bleeding nasal D004844||bleedings nasal D004844||nasal bleeding D004844||nasal bleedings D004844||nosebleed D004844||nose bleed D004844||nose bleeds C536782||t cell lymphoma 1a C536105|608908||myopia 6 C536105|608908||myopia susceptibility to C536105|608908||myp6 C535454||chromosome 9 trisomy mosaic C535454||trisomy 9 mosaic C535454||trisomy 9 mosaicism C535454||uniparental disomy of 9 C536783||t lymphocytopenia C537533|210600||seckel syndrome 1 C537533|210600||bird headed dwarfism C537533|210600||microcephalic primordial dwarfism 1 C537533|210600||microcephalic primordial dwarfism i C537533|210600||nanocephalic dwarfism C537533|210600||sckl C537533|210600||sckl1 C537533|210600||seckel type dwarfism C535453||chromosome 9 trisomy 9q32 C535453||duplication 9q32 C535453||trisomy 9q32 C563335|601369||deafness autosomal dominant 9 C563335|601369||dfna9 D004842||epispadias D004842||epispadia C567654|613286||cardiomyopathy dilated 1ff C567654|613286||cmd1ff D010661|261600||phenylketonurias D010661|261600||atypical phenylketonuria D010661|261600||atypical pku D010661|261600||bh4 deficiency D010661|261600||classical phenylketonuria D010661|261600||deficiency bh4 D010661|261600||deficiency dhpr D010661|261600||deficiency dihydropteridine reductase D010661|261600||deficiency disease dihydropteridine reductase D010661|261600||deficiency disease phenylalanine hydroxylase D010661|261600||deficiency disease phenylalanine hydroxylase severe D010661|261600||deficiency pah D010661|261600||deficiency phenylalanine hydroxylase D010661|261600||deficiency qdpr D010661|261600||deficiency tetrahydrobiopterin D010661|261600||dihydropteridine reductase deficiency disease D010661|261600||disease folling D010661|261600||disease folling apos s D010661|261600||folling disease D010661|261600||folling disease hyperphenylalaninemia non pku mild included D010661|261600||folling apos s disease D010661|261600||hpa non pku mild included D010661|261600||hyperphenylalaninaemia D010661|261600||hyperphenylalaninemia caused by a defect in biopterin metabolism D010661|261600||hyperphenylalaninemia non phenylketonuric D010661|261600||non phenylketonuric hyperphenylalaninemia D010661|261600||non phenylketonuric hyperphenylalaninemias D010661|261600||oligophrenia phenylpyruvica D010661|261600||pah deficiency D010661|261600||phenylalanine hydroxylase deficiency D010661|261600||phenylalanine hydroxylase deficiency disease D010661|261600||phenylalanine hydroxylase deficiency disease severe D010661|261600||phenylketonuria D010661|261600||phenylketonuria atypical D010661|261600||phenylketonuria classical D010661|261600||phenylketonuria i D010661|261600||phenylketonuria ii D010661|261600||phenylketonuria maternal included D010661|261600||phenylketonuria type 2 D010661|261600||pku D010661|261600||pku atypical D010661|261600||tetrahydrobiopterin deficiency 304110|C536456||craniofrontonasal dysplasia 304110|C536456||cfnd 304110|C536456||cfns 304110|C536456||craniofrontonasal dysostosis 304110|C536456||craniofrontonasal syndrome C536777||systemic candidiasis C536777||systemic candida infections C573722||acrocephalopolydactylous dysplasia C573722||elejalde syndrome C538243|301200||amelogenesis imperfecta hypoplastic hypomaturation x linked 1 C538243|301200||ai1e C538243|301200||aih1 C538243|301200||amelogenesis imperfecta type ie C538243|301200||amelogenesis imperfecta x linked 1 C536775||syphilitic aseptic meningitis C536775||meningeal syphilis C536775||meningitis syphilitic C536775||syphilitic meningitis C564567|300209||simpson golabi behmel syndrome type 2 C564567|300209||sgbs2 C536776||syphilitic myelopathy tabes dorsalis 250950|C562801||3 methylglutaconic aciduria type i 250950|C562801||3 methylglutaconyl coa hydratase deficiency 250950|C562801||3 mg coa hydratase deficiency 250950|C562801||mga type i 250950|C562801||mgca1 C535449||deletion 13q syndrome partial C535449||13q syndrome partial C535449||chromosome 13 partial monosomy 13q C535449||monosomy 13q partial C535449||partial monosomy of the long arm of chromosome 13 300577|C564482||mental retardation x linked 91 300577|C564482||mrx91 C535448||bird headed dwarfism montreal type C535448||bird headed dwarfism with features of premature senility C536779||systemic necrotizing angiitis C536779||systemic necrotizing angitis D003528||carcinoma adenoid cystic D003528||adenocystic carcinoma D003528||adenocystic carcinomas D003528||adenoid cystic carcinoma D003528||adenoid cystic carcinomas D003528||carcinoma adenocystic D003528||carcinomas adenocystic D003528||carcinomas adenoid cystic D003528||cylindroma D003528||cylindromas D003528||cystic carcinoma adenoid D003528||cystic carcinomas adenoid D004859||equine infectious anemia D004859||anemia equine infectious D004859||anemias equine infectious D004859||equine infectious anemias D004859||fevers swamp D004859||fever swamp D004859||infectious anemia equine D004859||infectious anemias equine D004859||swamp fever D004859||swamp fevers C563845|608837||carney complex variant C536790||craniosynostosis sagittal with dandy walker malformation and hydrocephalus C536790||sagittal craniosynostosis dandy walker malformation and hydrocephalus C536795||chromosome 22 ring C536795||ring 22 chromosome C535463||mainzer saldino disease C535463||conorenal syndrome C535463||mainzer saldino syndrome C535463||renal dysplasia retinal pigmentary dystrophy cerebellar ataxia and skeletal dysplasia C535463||saldino mainzer disease C536796||trisomy 22 mosaicism syndrome C536796||chromosome 22 trisomy mosaic C536796||trisomy 22 mosaic C536796||trisomy mosaic 22 C536796||uniparental disomy of 22 C536793||chromosome 21 tetrasomy 21q C536793||tetrasomy 21q C567320|612394||bone fragility with contractures arterial rupture and deafness C567320|612394||lh3 deficiency C567320|612394||lysyl hydroxylase 3 deficiency C535465||contractures ectodermal dysplasia cleft lip palate D020083||acquired hyperostosis syndrome D020083||acquired hyperostosis syndromes D020083||hyperostosis syndrome acquired D020083||hyperostosis syndromes acquired D020083||sapho syndrome D020083||sapho syndromes D020083||syndrome acquired hyperostosis D020083||syndromes acquired hyperostosis D020083||syndrome sapho D020083||syndromes sapho D020083||synovitis acne pustlosis hyperostosis and osteomyelitis C536794||chromosome 21 uniparental disomy of C536794||mosaic trisomy 21 C536794||uniparental disomy of 21 D003527||cyclothymic disorder D003527||cyclothymic disorders D003527||cyclothymic personalities D003527||cyclothymic personality D003527||disorder cyclothymic D003527||disorders cyclothymic D003527||personalities cyclothymic D003527||personality cyclothymic C535464||conotruncal cardiac defects C535464||truncus arteriosus communis 300640|C564468||invasive pneumococcal disease recurrent isolated 2 300640|C564468||ipd2 C563989|610951||ceroid lipofuscinosis neuronal 7 C563989|610951||cln7 612703||microcephaly 7 primary autosomal recessive 612703||mcph7 D041761||cholecystolithiasis 153480|D006223||hamartoma syndrome multiple 153480|D006223||bannayan riley ruvalcaba syndrome 153480|D006223||bannayan ruvalcaba riley syndrome 153480|D006223||bannayan zonana syndrome 153480|D006223||brrs 153480|D006223||bzs 153480|D006223||cerebellar granule cell hypertrophy and megalencephaly included 153480|D006223||cerebelloparenchymal disorder vi included 153480|D006223||cerebellum dysplastic gangliocytoma 153480|D006223||cerebellum dysplastic gangliocytomas 153480|D006223||cowden disease 153480|D006223||cowden apos s disease 153480|D006223||cowdens disease 153480|D006223||cowden apos s syndrome 153480|D006223||cowdens syndrome 153480|D006223||cowden syndrome 153480|D006223||cowden syndrome 1 153480|D006223||cpd6 included 153480|D006223||cs 153480|D006223||cws1 153480|D006223||dysplastic gangliocytoma of cerebellum 153480|D006223||dysplastic gangliocytoma of the cerebellum 153480|D006223||hamartoma syndromes multiple 153480|D006223|C535531|603932||ldd included 153480|D006223||lhermitte duclos disease 153480|D006223||lhermitte duclos disease included 153480|D006223||macrocephaly multiple lipomas and hemangiomata 153480|D006223||macrocephaly pseudopapilledema and multiple hemangiomas 153480|D006223||macrocephaly pseudopapilledema and multiple hemangiomata 153480|D006223||multiple hamartoma syndrome 153480|D006223||multiple hamartoma syndrome mham dysplastic gangliocytoma of the cerebellum included 153480|D006223||multiple hamartoma syndromes 153480|D006223||myhre riley smith syndrome 153480|D006223||proteus like syndrome included 153480|D006223||pten hamartoma tumor syndrome 153480|D006223||riley smith syndrome 153480|D006223||rmss 153480|D006223||ruvalcaba myhre smith syndrome 153480|D006223||ruvalcaba myhre syndrome D004402|223900||dysautonomia familial D004402|223900||dominant hereditary sensory neuropathy type iii D004402|223900||dys D004402|223900||familial dysautonomia D004402|223900||fd D004402|223900||hereditary sensory and autonomic neuropathy 3 D004402|223900||hereditary sensory and autonomic neuropathy type iii D004402|223900||hereditary sensory neuropathy dominant type 3 D004402|223900||hereditary sensory neuropathy dominant type iii D004402|223900||hereditary sensory neuropathy type 3 D004402|223900||hereditary sensory neuropathy type 3 dominant D004402|223900||hsan3 D004402|223900||hsan 3 D004402|223900||hsan hereditary sensory and autonomic neuropathy type iii D004402|223900||hsan iii D004402|223900||hsan type iii D004402|223900||hsn iii D004402|223900||neuropathy hereditary and autonomic type iii D004402|223900||neuropathy hereditary sensory and autonomic type iii D004402|223900||riley day syndrome D004402|223900||type 3 hereditary sensory neuropathy dominant D004402|223900||type iii hereditary sensory neuropathy dominant D015508||nasal obstruction D015508||airway obstruction nasal D015508||bilateral nasal obstruction D015508||blockage nasal D015508||blockages nasal D015508||nasal airway obstruction D015508||nasal blockage D015508||nasal blockages D015508||nasal obstruction bilateral D015508||nasal obstruction unilateral D015508||obstruction bilateral nasal D015508||obstruction nasal D015508||obstruction nasal airway D015508||obstructions nasal D015508||unilateral nasal obstruction C535455||chromosomes 1 and 2 monosomy 2q duplication 1p C535455||deletion 2q duplication 1p C535455||monosomy 2q duplication 1p C536786||athabaskan severe combined immunodeficiency C535458||chudley rozdilsky syndrome C535458||chudley syndrome D004827||epilepsy D004827||aura D004827||auras D004827||awakening epilepsy D004827||cryptogenic epilepsies D004827||cryptogenic epilepsy D004827||epilepsies D004827||epilepsies cryptogenic D004827||epilepsy awakening D004827||epilepsy cryptogenic D004827||epileptic seizure D004827||epileptic seizures D004827||seizure disorder D004827||seizure disorders D004827||seizure epileptic D004827||seizures epileptic D004827||seizure single D004827||seizures single D004827||single seizure D004827||single seizures C535470||coq responsive oxphos deficiency D020078||neurogenic inflammation D020078||inflammation neurogenic D020078||inflammations neurogenic D020078||neurogenic inflammations D004826||epiglottitis D004826||epiglottitides D004829||epilepsy generalized D004829||akinetic epilepsies D004829||akinetic epilepsy D004829||atonic epilepsies D004829||atonic epilepsy D004829||convulsive epilepsies generalized D004829||convulsive epilepsy generalized D004829||convulsive generalized seizure disorder D004829||convulsive seizure disorder generalized D004829||epilepsies akinetic D004829||epilepsies atonic D004829||epilepsies generalized D004829||epilepsies generalized convulsive D004829||epilepsies tonic D004829||epilepsy akinetic D004829||epilepsy atonic D004829||epilepsy generalized convulsive D004829||epilepsy generalized nonconvulsive D004829||epilepsy symptomatic generalized D004829||epilepsy tonic D004829||generalized convulsive epilepsies D004829||generalized convulsive epilepsy D004829||generalized epilepsies D004829||generalized epilepsy D004829||generalized epilepsy symptomatic D004829||generalized nonconvulsive epilepsy D004829||generalized nonconvulsive seizure disorder D004829||generalized onset seizure disorder D004829||generalized seizure disorder D004829||generalized seizure disorder convulsive D004829||generalized seizure disorder nonconvulsive D004829||generalized seizure disorders D004829||nonconvulsive epilepsy generalized D004829||nonconvulsive generalized seizure disorder D004829||nonconvulsive seizure disorder generalized D004829||seizure disorder convulsive generalized D004829||seizure disorder generalized D004829||seizure disorder generalized convulsive D004829||seizure disorder generalized nonconvulsive D004829||seizure disorder generalized onset D004829||seizure disorder nonconvulsive generalized D004829||seizure disorders generalized D004829||symptomatic generalized epilepsy D004829||tonic epilepsies D004829||tonic epilepsy C537608|600121||rhizomelic chondrodysplasia punctata type 3 C537608|600121||agps deficiency C537608|600121||alkyldihydroxyacetonephosphate synthase deficiency C537608|600121||alkylglycerone phosphate synthase deficiency C537608|600121||rcdp3 C535472||corneal cerebellar syndrome C535472||corneal dystrophy with spinocerebellar degeneration C535472||der kaloustian jarudi khoury syndrome C535472||spinocerebellar degeneration and corneal dystrophy D004828||epilepsies partial D004828||abdominal epilepsies D004828||abdominal epilepsy D004828||amygdalo hippocampal epilepsies D004828||amygdalo hippocampal epilepsy D004828||benign focal epilepsy childhood D004828||benign occipital epilepsies D004828||benign occipital epilepsy D004828||benign occipital epilepsy childhood D004828||childhood benign focal epilepsy D004828||childhood benign occipital epilepsy D004828||digestive epilepsies D004828||digestive epilepsy D004828||disorders focal seizure D004828||disorders partial seizure D004828||epilepsies abdominal D004828||epilepsies amygdalo hippocampal D004828||epilepsies benign occipital D004828||epilepsies digestive D004828||epilepsies focal D004828||epilepsies gelastic D004828||epilepsies localization related D004828||epilepsies occipital lobe D004828||epilepsies rhinencephalic D004828||epilepsies simple partial D004828||epilepsy abdominal D004828||epilepsy benign occipital D004828||epilepsy focal D004828||epilepsy localization related D004828||epilepsy partial D004828||epilepsy simple partial D004828||focal epilepsies D004828||focal epilepsy D004828||focal seizure disorder D004828||focal seizure disorders D004828||gelastic epilepsies D004828||gelastic epilepsy D004828||lobe epilepsy occipital D004828||localization related epilepsies D004828||localization related epilepsy D004828||occipital epilepsies benign D004828||occipital epilepsy benign D004828||occipital lobe epilepsies D004828||occipital lobe epilepsy D004828||partial epilepsies D004828||partial epilepsies simple D004828||partial epilepsy D004828||partial seizure disorder D004828||partial seizure disorders D004828||partial seizures simple D004828||partial seizures simple consciousness preserved D004828||rhinencephalic epilepsies D004828||rhinencephalic epilepsy D004828||seizure disorder focal D004828||seizure disorder partial D004828||seizure disorders focal D004828||seizure disorders partial D004828||seizures simple partial D004828||seizures subclinical D004828||seizure subclinical D004828||seizures uncinate D004828||seizure uncinate D004828||simple partial epilepsies D004828||simple partial seizures D004828||subclinical seizure D004828||subclinical seizures D004828||uncinate seizures C535471||cornea guttata with anterior polar cataract C535471||cornea guttata with anterior polar cataracts C535471||familial congenital cornea guttata with anterior polar cataracts D004823||epididymitis D004823||epididymitides 120435|C537261||lynch syndrome i site specific colonic cancer 120435|C537261||coca1 lynch syndrome ii included 120435|C537261||fcc1 120435|C537261||hnpcc1 C536254|266100||pyridoxine dependent epilepsy C536254|266100||aasa dehydrogenase deficiency C536254|266100||epd C536254|266100||epilepsy pyridoxine dependent C536254|266100||pde C536254|266100||pyridoxine dependency C536254|266100||pyridoxine dependency with seizures C536254|266100||pyridoxine dependent seizures C536254|266100||vitamin b6 dependent seizures D019080||cafe au lait spots D019080||cafe au lait spot D019080||spot cafe au lait D019080||spots cafe au lait D004820||epidermolysis bullosa D004820||acantholysis bullosa C535443|235555||bile acid synthesis defect congenital 2 C535443|235555||cbas2 C535443|235555||cholestasis with delta 4 3 oxosteroid 5 beta reductase deficiency C535443|235555||congenital bile acid synthesis defect type 2 cbas2 D064419||chemically induced disorders D064419||chemically induced disorder D064419||disorder chemically induced D064419||disorders chemically induced C535737|602473||ethylmalonic encephalopathy C535737|602473|610247|D057765||ee C535737|602473||encephalopathy ethylmalonic C535737|602473||encephalopathy petechiae and ethylmalonic aciduria C535737|602473||epema syndrome C535737|602473||syndrome of encephalopathy petechiae and ethylmalonic aciduria C567310|612444||ciliary dyskinesia primary 9 C567310|612444||cild9 C567310|612444||ciliary dyskinesia primary 9 with or without situs inversus C536799||chromosome 22 trisomy C536799||duplication 22 C536799||trisomy 22 C562626|130080||ehlers danlos syndrome type viii C562626|130080||eds8 C562626|130080||eds viii C562626|130080||ehlers danlos syndrome periodontitis type C562626|130080||ehlers danlos syndrome periodontosis type C536296|609583||joubert syndrome 4 C536296|609583||jbts4 C535466||convulsions benign familial neonatal dominant form C535466||autosomal dominant form of benign neonatal seizures C535466||autosomal dominant spheroid body myopathy C535466||benign familial neonatal seizures C535466||epilepsy benign neonatal 2 C535466||seizures benign familial neonatal C535466||spheroid body myopathy C536797||chromosome 22 microdeletion 22 q11 C536797||microdeletion 22 q11 C535469||coproporphyria C535469||hereditary coproporphyria porphyria C535469||porphyria hepatica coproporphyria C535469||porphyria hepatica ii C536798||chromosome 22 monosome mosaic C536798||chromosome 22 mosaic monosomy C536798||mosaic monosome 22 C535468||copper deficiency familial benign C535468||familial benign copper deficiency C535468||familial benign hypocupremia C563788|609141||corneal dystrophy posterior polymorphous 3 C563788|609141||ppcd3 C535481||fraser jequier chen syndrome D020065||hepatopulmonary syndrome D020065||hepato pulmonary syndrome D020065||hepatopulmonary syndromes D020065||hepato pulmonary syndromes D020065||syndrome hepatopulmonary D020065||syndrome hepato pulmonary D020065||syndromes hepatopulmonary D020065||syndromes hepato pulmonary D004839||epiphyses slipped D004839||epiphysiolyses D004839||epiphysiolysis D004839||slipped epiphyses D052439||lipid metabolism disorders D052439||lipid metabolism disorder D052439||metabolism disorder lipid D052439||metabolism disorders lipid D041781||jaundice obstructive D041781||cholestatic jaundice D041781||jaundice cholestatic D041781||jaundice mechanical D041781||mechanical jaundice D041781||obstructive jaundice D004834||epilepsy post traumatic D004834||concussive convulsion D004834||concussive convulsions D004834||convulsion concussive D004834||convulsions concussive D004834||disorder post traumatic seizure D004834||disorders post traumatic seizure D004834||early post traumatic seizure D004834||early post traumatic seizures D004834||epilepsies post traumatic D004834||epilepsies traumatic D004834||epilepsy traumatic D004834||impact seizure D004834||impact seizures D004834||late post traumatic seizure D004834||late post traumatic seizures D004834||post traumatic epilepsies D004834||post traumatic epilepsy D004834||post traumatic seizure disorder D004834||post traumatic seizure disorders D004834||post traumatic seizure early D004834||post traumatic seizure late D004834||post traumatic seizures early D004834||post traumatic seizures late D004834||seizure disorder post traumatic D004834||seizure disorders post traumatic D004834||seizure early post traumatic D004834||seizure late post traumatic D004834||seizures early post traumatic D004834||seizures late post traumatic D004834||traumatic epilepsies D004834||traumatic epilepsy C535485||chromosome 13q trisomy C535485||duplication 13q C535485||trisomy 13q D004833||epilepsy temporal lobe D004833||benign psychomotor epilepsy childhood D004833||childhood benign psychomotor epilepsy D004833||epilepsies lateral temporal D004833||epilepsies temporal lobe D004833||epilepsies uncinate D004833||epilepsy benign psychomotor childhood D004833||epilepsy lateral temporal D004833||epilepsy uncinate D004833||lateral temporal epilepsies D004833||lateral temporal epilepsy D004833||temporal lobe epilepsies D004833||temporal lobe epilepsy D004833||uncinate epilepsies D004833||uncinate epilepsy C535484||13q deletion syndrome C535484||chromosome 13q deletion C535484|613884||chromosome 13q deletion syndrome C535484||chromosome 13q monosomy C535484||chromosome 13q syndrome C535484||deletion 13q C535484||deletion 13q syndrome C535484||monosomy 13q C535484||monosomy 13q syndrome C535484||orbeli apos s syndrome C535484||orbeli syndrome C535487||ring chromosome 14 syndrome C535487||chromosome 14 ring C535487||ring 14 C535487||ring 14 syndrome C535487||ring chromosome 14 C535486||chromosome 13q mosaicism C535486||mosiacism of chromosome 13q D004830||epilepsy tonic clonic D004830||convulsion disorders tonic clonic D004830||convulsion disorder tonic clonic D004830||convulsion grand mal D004830||convulsions grand mal D004830||convulsions tonic clonic D004830||convulsion syndromes tonic clonic D004830||convulsion syndrome tonic clonic D004830||convulsion tonic clonic D004830||cryptogenic tonic clonic epilepsies D004830||cryptogenic tonic clonic epilepsy D004830||disorders tonic clonic convulsion D004830||disorders tonic clonic seizure D004830||disorder tonic clonic convulsion D004830||disorder tonic clonic seizure D004830||epilepsies cryptogenic tonic clonic D004830||epilepsies familial tonic clonic D004830||epilepsies symptomatic tonic clonic D004830||epilepsies tonic clonic D004830||epilepsy cryptogenic tonic clonic D004830||epilepsy familial tonic clonic D004830||epilepsy grand mal D004830||epilepsy major D004830||epilepsy symptomatic tonic clonic D004830||epilepsy tonic clonic cryptogenic D004830||epilepsy tonic clonic familial D004830||epilepsy tonic clonic symptomatic D004830||familial tonic clonic epilepsies D004830||familial tonic clonic epilepsy D004830||grand mal convulsion D004830||grand mal convulsions D004830||grand mal epilepsy D004830||grand mal seizure disorder D004830||major epilepsies D004830||major epilepsy D004830||major motor seizure disorder D004830||seizure disorder grand mal D004830||seizure disorder major motor D004830||seizure disorders tonic clonic D004830||seizure disorder tonic clonic D004830||seizure syndromes tonic clonic D004830||seizure syndrome tonic clonic D004830||symptomatic tonic clonic epilepsies D004830||symptomatic tonic clonic epilepsy D004830||syndromes tonic clonic convulsion D004830||syndromes tonic clonic seizure D004830||syndrome tonic clonic convulsion D004830||syndrome tonic clonic seizure D004830||tonic clonic convulsion D004830||tonic clonic convulsion disorder D004830||tonic clonic convulsion disorders D004830||tonic clonic convulsions D004830||tonic clonic convulsion syndrome D004830||tonic clonic convulsion syndromes D004830||tonic clonic epilepsies D004830||tonic clonic epilepsies cryptogenic D004830||tonic clonic epilepsies familial D004830||tonic clonic epilepsies symptomatic D004830||tonic clonic epilepsy D004830||tonic clonic epilepsy cryptogenic D004830||tonic clonic epilepsy familial D004830||tonic clonic epilepsy symptomatic D004830||tonic clonic seizure disorder D004830||tonic clonic seizure disorders D004830||tonic clonic seizure syndrome D004830||tonic clonic seizure syndromes D020069||shoulder pain D020069||pain shoulder D020069||pains shoulder D020069||shoulder pains 612566|C567252||inflammatory bowel disease 24 612566|C567252||ibd24 204650|C567147||amelogenesis imperfecta type ic 204650|C567147||ai1c 204650|C567147||amelogenesis imperfecta hypoplastic with or without openbite malocclusion autosomal recessive 204650|C567147||amelogenesis imperfecta local hypoplastic type autosomal recessive 607017|C564634||deafness autosomal dominant 21 607017|C564634||dfna21 204700|C538242||amelogenesis imperfecta pigmented hypomaturation type 204700|C538242|C567146||ai2a1 204700|C538242|C567146||amelogenesis imperfecta hypomaturation type iia1 204700|C538242|C567146||amelogenesis imperfecta pigmented hypomaturation type 1 C563835|608902||drug metabolism poor cyp2d6 related C563835|608902||codeine ultrarapid metabolism of included C563835|608902||debrisoquine poor metabolism of included C563835|608902||debrisoquine ultrarapid metabolism of included C563835|608902||drug metabolism ultrarapid cyp2d6 related included C563835|608902||nortriptyline poor metabolism of included C563835|608902||sparteine poor metabolism of included 106600|D000848||anodontia 106600|D000848||hyd1 106600|D000848||hypodontia 106600|D000848||hypodontia oligodontia 1 106600|D000848||hypodontia oligodontia with orofacial cleft included 106600|D000848||second premolars and third molars absence of 106600|D000848||sthag1 106600|D000848||tooth agenesis familial 106600|D000848||tooth agenesis familial tooth agenesis selective with orofacial cleft included 106600|D000848||tooth agenesis selective 1 D019066||facies C535444|214950||bile acid synthesis defect congenital 4 C535444|214950||cbas4 C535444|214950||cholestasis intrahepatic with defective conversion of trihydroxycoprostanic acid to cholic acid C535444|214950||trihydroxycoprostanic acid in bile D004806||ependymoma D004806||anaplastic ependymoma D004806||anaplastic ependymomas D004806||cellular ependymoma D004806||clear cell ependymoma D004806||ependymoma anaplastic D004806||ependymoma myxopapillary D004806||ependymoma papillary D004806||ependymomas D004806||ependymomas anaplastic D004806||ependymomas myxopapillary D004806||ependymomas papillary D004806||myxopapillary ependymoma D004806||myxopapillary ependymomas D004806||papillary ependymoma D004806||papillary ependymomas C536741||wolffian tumor C536741||female adnexal tumor of probable wolffian origin C536741||wolffian adenoma C536741||wolffian adnexal tumor C567845|612951||leukoencephalopathy cystic without megalencephaly D004803||eosinophilic granuloma D004803||eosinophilic granulomas D004803||granuloma eosinophilic D004803||granulomas eosinophilic D004802||eosinophilia D004802||eosinophilias D004802||eosinophilias tropical D004802||eosinophilia tropical D004802||tropical eosinophilia D004802||tropical eosinophilias C563418|600971||deafness autosomal recessive 6 C563418|600971||dfnb6 C563418|600971||neurosensory nonsyndromic recessive deafness 6 C563418|600971||nsrd6 C563858|608787||otosclerosis 5 C563858|608787||otsc5 D007088||illusions D007088||auditory illusion D007088||auditory illusions D007088||autokinetic effect D007088||autokinetic effects D007088||autokinetic illusion D007088||autokinetic illusions D007088||effect autokinetic D007088||effects autokinetic D007088||illusion D007088||illusion auditory D007088||illusion autokinetic D007088||illusion kinesthetic D007088||illusions auditory D007088||illusions autokinetic D007088||illusions kinesthetic D007088||illusions tactile D007088||illusions visual D007088||illusion tactile D007088||illusion visual D007088||kinesthetic illusion D007088||kinesthetic illusions D007088||tactile illusion D007088||tactile illusions D007088||visual illusion D007088||visual illusions 607791|C564333||charcot marie tooth disease dominant intermediate d 607791|C564333||charcot marie tooth neuropathy dominant intermediate d 607791|C564333||cmtdid 607791|C564333||di cmtd C536733||x chromosome trisomy xq25 C536733||duplication xq25 C536733||trisomy xq25 C535401||charcot marie tooth disease dominant intermediate 3 C535400||charcot marie tooth disease dominant intermediate 2 C536731||x chromosome trisomy xpter xq13 C536731||duplication xpter xq13 C536731||trisomy xpter xq13 C536732||chromosome xq duplication syndrome C536732||chromosome xq trisomy C536732||duplication xq C536732||dup xq syndrome C536732||trisomy xq C536732||x chromosome trisomy xq C535402||galactorrhea hyperprolactinemia C535402||galactorrhoea hyperprolactinaemia C535607|225750||aicardi goutieres syndrome C535607|225750||ags C535607|225750||ags1 C535607|225750||ags2 C535607|225750||aicardi goutieres syndrome 1 C535607|225750||aicardi goutieres syndrome 2 C535607|225750||cree encephalitis C535607|225750||encephalopathy familial infantile with intracranial calcification and chronic cerebrospinal fluid lymphocytosis C535607|225750||encephalopathy with basal ganglia calcification C535607|225750||familial infantile encephalopathy with intracranial calcification and chronic cerebrospinal fluid lymphocytosis C535607|225750|251290||pseudo torch syndrome C535607|225750||pseudotoxoplasmosis syndrome C535607|225750||pseudotoxoplasmosis syndrome aicardi goutieres syndrome 1 autosomal dominant included C536735||winter shortland temple syndrome C536735||craniofacial malformations asymmetric with polysyndactyly and abnormal skin and gut development C536735||curry jones syndrome 226900|C535504||epiphyseal dysplasia multiple 4 226900|C535504||autosomal recessive multiple epiphyseal dysplasia 226900|C535504||edm4 226900|C535504||multiple epiphyseal dysplasia 4 226900|C535504||multiple epiphyseal dysplasia autosomal recessive 226900|C535504||multiple epiphyseal dysplasia with bilayered patellae 226900|C535504||multiple epiphyseal dysplasia with clubfoot 226900|C535504||multiple epiphyseal dysplasia with double layered patella C535406||game friedman paradice syndrome C535406||hydrocephalus with associated malformations D004818||epidermitis exudative of swine D004818||disease greasy pig D004818||exudative dermatitis of swine D004818||greasy pig disease D004818||swine exudative dermatitides D004818||swine exudative dermatitis D020042||histiocytic necrotizing lymphadenitis D020042||disease kikuchi D020042||disease kikuchi fujimoto D020042||disease kikuchi fujimoto apos s D020042||disease kikuchi apos s D020042||histiocytic necrotising lymphadenitides D020042||histiocytic necrotising lymphadenitis D020042||kikuchi disease D020042||kikuchi fujimoto disease D020042||kikuchi fujimoto apos s disease D020042||kikuchi fujimotos disease D020042||kikuchi necrotizing lymphadenitis D020042||kikuchi apos s disease D020042||kikuchis disease D020042||kikuchi apos s disease nosocomial D020042||lymphadenitides histiocytic necrotising D020042||lymphadenitis histiocytic necrotising D020042||lymphadenitis histiocytic necrotizing D020042||lymphadenitis kikuchi necrotizing D020042||necrotising lymphadenitides histiocytic D020042||necrotising lymphadenitis histiocytic D020042||necrotizing lymphadenitis histiocytic D020042||necrotizing lymphadenitis kikuchi D020042||nosocomial kikuchi disease D020042||nosocomial kikuchi apos s disease D020042||nosocomial kikuchis disease C536751||wt limb blood syndrome C536751||radial ulnar hypoplasia with bone marrow failure and or leukemia C536752||wyburn mason apos s syndrome C536752||arteriovenous aneurysm of mid brain and retina facial nevi and mental changes C536752||wyburn mason syndrome D004814||epidermal cyst D004814||cyst epidermal D004814||cyst epidermoid D004814||cyst pilar D004814||cyst sebaceous D004814||cysts epidermal D004814||cysts epidermoid D004814||cysts pilar D004814||cysts sebaceous D004814||epidermal cysts D004814||epidermoid cyst D004814||epidermoid cysts D004814||pilar cysts D004814||sebaceous cyst D004814||sebaceous cysts C567641|613328||roifman chitayat syndrome C567641|613328||combined immunodeficiency facial dysmorphism optic nerve atrophy skeletal anomalies and developmental delay D064420||drug related side effects and adverse reactions D064420||adverse drug event D064420||adverse drug events D064420||adverse drug reaction D064420||adverse drug reactions D064420||drug event adverse D064420||drug events adverse D064420||drug reaction adverse D064420||drug reactions adverse D064420||drug toxicities D064420||drug toxicity D064420||event adverse drug D064420||events adverse drug D064420||reaction adverse drug D064420||reactions adverse drug D064420||toxicities drug D064420||toxicity drug D004810||ephemeral fever D004810||fever ephemeral D004810||sickness three day D004810||three day sickness D020047||rectocele D020047||proctocele D020047||proctoceles D020047||rectoceles C565300|605738||microphthalmia isolated with coloboma 2 C565300|605738||mcopcb2 C565300|605738||microphthalmia colobomatous isolated 2 255120|C535588||carnitine palmitoyl transferase 1a deficiency 255120|C535588||carnitine palmitoyltransferase 1 deficiency 255120|C535588||carnitine palmitoyltransferase ia deficiency 255120|C535588||carnitine palmitoyltransferase i deficiency 255120|C535588||cpt 1a deficiency 255120|C535588||cpt deficiency hepatic type i 255120|C535588||cpt i deficiency 255120|C535588||hepatic carnitine palmitoyltransferase 1 deficiency 255120|C535588||liver form of carnitine palmitoyltransferase deficiency C566331|603813||hypercholesterolemia autosomal recessive C566331|603813||arh C566331|603813||arh1 formerly C566331|603813||arh2 formerly C566331|603813||fhcb1 formerly C566331|603813||fhcb2 formerly C566331|603813||hypercholesterolemia autosomal recessive 1 formerly C566331|603813||hypercholesterolemia autosomal recessive 2 formerly C536744||woods leversha rogers syndrome C536744||intrauterine growth retardation with increased mitomycin c sensitivity C536744||severe intrauterine growth retardation with increased mitomycin c sensitivity C536745||woolly hair congenital C536745||frizzy hair syndrome C536745||woolly hair syndrome 607936|C564309||exfoliative ichthyosis autosomal recessive ichthyosis bullosa of siemens like 607936|C564309||arei 607936|C564309||exfoliative ichthyosis autosomal recessive ibs like C536749||wright dyck syndrome C536749||hearing loss ankle anomalies and neurological regression dementia C536749||sensory neuropathy with deafness and dementia C535326|142900||holt oram syndrome C535326|142900||atriodigital dysplasia C535326|142900||atrio digital syndrome C535326|142900||cardiac limb syndrome C535326|142900||cervico oculo acoustic syndrome C535326|142900||heart hand syndrome C535326|142900||heart hand syndrome type 1 C535326|142900||hos C535326|142900||hos1 C535326|142900||ventriculo radial syndrome C535326|142900||wildervanck syndrome C536746||woolly hair hypotrichosis everted lower lip and outstanding ears C536746||salamon syndrome C536747||worster drought syndrome C536747||congenital suprabulbar paresis C536747||suprabulbar paresis congenital C565764|604519||inflammatory bowel disease 3 C565764|604519||ibd3 D019046||bone marrow neoplasms D019046||bone marrow neoplasm D019046||neoplasm bone marrow D019046||neoplasms bone marrow D020031||epstein barr virus infections D020031||ebv infection D020031||ebv infections D020031||herpesvirus 4 infections human D020031||human herpesvirus 4 infections D020031||human herpes virus 4 infections D020031||infections ebv D020031||infections epstein barr virus D020031||virus infections epstein barr C536762||xanthogranulomatous cholecystitis C536763||xanthogranulomatous sialadenitis C536763||sialadenitis xanthogranulomatous C536760||x linked mental retardation type wittwer C536760||x linked mental retardation syndrome wittwer tpe D019043||vascular neoplasms D019043||neoplasms vascular D019043||neoplasm vascular D019043||vascular neoplasm C535432||berk tabatznik syndrome C535432||cleft nare brachydactyly short stature dwarfism C535432||congenital optic atrophy and brachytelephalangy C535432||kyphosis brachyphalangy optic atrophy D019042||muscle neoplasms D019042||cancer muscle D019042||cancer of muscle D019042||cancer of the muscle D019042||cancers muscle D019042||muscle cancer D019042||muscle cancers D019042||muscle neoplasm D019042||neoplasm muscle D019042||neoplasms muscle C564859|266120||uridine 5 prime monophosphate hydrolase deficiency hemolytic anemia due to C564859|266120||hemolytic anemia due to p5n deficiency C564859|266120||hemolytic anemia due to umph1 deficiency C564859|266120||hemolytic anemia due to uridine 5 prime monophosphate hydrolase deficiency C564859|266120||p5n deficiency C564859|266120||pyrimidine 5 prime nucleotidase deficiency hemolytic anemia due to C564859|266120||umph1 deficiency D063129||parental death D063129||death parental D063129||death paternal D063129||deaths parental D063129||deaths paternal D063129||parental deaths D063129||paternal death D063129||paternal deaths 610168||loeys dietz syndrome 2 610168||aat3 610168|C537783||aortic aneurysm familial thoracic 3 610168||lds2 610168||marfan syndrome type ii formerly D008398||masochism D008398||masochisms D008398||masochism sexual D008398||masochisms sexual D008398||sexual masochism D008398||sexual masochisms 188000||thc2 C536755||x chromosome monosomy xq28 C536755||deletion xq28 C536755||monosomy xq28 C565295||gonadal dysgenesis hypergonadotropic xx type short stature and recurrent metabolic acidosis C536756||x chromosome trisomy xp3 C536756||duplication xp3 C536756||trisomy xp3 C535422||charcot marie tooth disease type 4b2 with early onset glaucoma C536753||x chromosome duplication xq13 1 q21 1 C536753||duplication xq13 1 q21 1 C536753||trisomy xq13 1 q21 1 611490||optb4 C535425||congenital torticollis C535425||congenital muscular torticollis C535425||familial spasmodic torticollis C535425||familial torticollis C535425||torticollis congenital C535425||torticollis familial C536754||x chromosome monosomy xp22 pter C536754||deletion xp22 pter C536754||monosomy xp22 pter C535427||ben ari shuper mimouni syndrome C535426||congenitally corrected transposition of the great arteries C535426||congenitally corrected transposition of the great vessels C535426||transposition of the great arteries congenitally corrected C535426||transposition of the great vessels congenitally corrected C536757||x linked adrenal hypoplasia congenita C536757|300200||addison disease x linked C536757||adrenal hypoplasia congenita C536757|300200||adrenal hypoplasia congenital C536757|300200||adrenal hypoplasia congenital with hypogonadotropic hypogonadism C536757||ahc with isolated gonadotropin deficiency C536757|D000312||congenital adrenal hypoplasia C536757|300200||cytomegalic adrenocortical hypoplasia C536757||x linked congenital adrenal hypoplasia 611090|C567019||mental retardation autosomal recessive 12 611090|C567019||mrt12 164400|D020754||spinocerebellar ataxia 1 164400|D020754||sca1 spinocerebellar atrophy i 164400|D020754||olivopontocerebellar atrophy i 164400|D020754||opca i 164400|D020754||opca1 164400|D020754||cerebelloparenchymal disorder i 164400|D020754||cpd1 164400|D020754||menzel type opca 164400|D020754||olivopontocerebellar atrophy iv 164400|D020754||opca iv 164400|D020754||opca4 164400|D020754||schut haymaker type opca D020022||genetic predisposition to disease D020022||genetic predisposition D020022||genetic predispositions D020022||genetic susceptibilities D020022||genetic susceptibility D020022||predisposition genetic D020022||predispositions genetic D020022||susceptibilities genetic D020022||susceptibility genetic 241200|C537651||bartter syndrome antenatal type 2 241200|C537651||hyperprostaglandin e syndrome 2 241200|C537651||hypokalemic alkalosis with hypercalciuria antenatal 2 C536773||syphilis secondary C536773||secondary syphilis D019052||depression postpartum D019052||depression postnatal D019052||depression post natal D019052||depression post partum D019052||postnatal depression D019052||post natal depression D019052||postpartum depression D019052||post partum depression C535441||bifid nose C535441||bifid nose autosomal recessive C535441||median fissure of nose C535441||nose median cleft of C536774||syphilis tertiary C536774||late syphilis C536774||tertiary syphilis C536772||syphilis primary C536772||primary syphilis D019053||hiv enteropathy D019053||aids associated enteropathies D019053||aids associated enteropathy D019053||aids enteropathies D019053||aids enteropathies idiopathic D019053||aids enteropathy D019053||aids enteropathy idiopathic D019053||enteropathies aids D019053||enteropathies aids associated D019053||enteropathies hiv D019053||enteropathies hiv associated D019053||enteropathies idiopathic aids D019053||enteropathy aids D019053||enteropathy aids associated D019053||enteropathy hiv D019053||enteropathy hiv associated D019053||enteropathy idiopathic aids D019053||hiv associated enteropathies D019053||hiv associated enteropathy D019053||hiv enteropathies D019053||idiopathic aids enteropathies D019053||idiopathic aids enteropathy C566404|603165||dermatitis atopic 1 C566404|603165||atod C566404|603165||atod1 included C566404|603165|D003876||dermatitis atopic C566404|603165||eczema atopic dermatitis atopic 1 included D007078||ileal neoplasms D007078||cancer ileal D007078||cancer of ileum D007078||cancer of the ileum D007078||cancers ileal D007078||ileal cancer D007078||ileal cancers D007078||ileal neoplasm D007078||ileum cancer D007078||ileum cancers D007078||neoplasm ileal D007078||neoplasms ileal D007079||ileitis C566637|601718||retinitis pigmentosa 19 C566637|601718||rp19 D007077||ileal diseases D007077||disease ileal D007077||diseases ileal D007077||ileal disease C535689|135750||laurin sandrow syndrome C535689|135750||fibula and ulna duplication of with absence of tibia and radius C535689|135750||fibula and ulna duplication of with absence of tibia and radius laurin sandrow syndrome segmental included C535689|135750||fibula ulna duplication tibia radius absence C535689|135750||laurin sandrow syndrome segmental C535689|135750||lss C535689|135750||mip C535689|135750||mirror hands and feet with nasal defects C535689|135750||mirror image polydactyly C535689|135750||sandrow syndrome C535689|135750||tetramelic mirror image polydactyly C535689|135750||tmip 609165||erythroderma ichthyosiform congenital reticular 609165||aarau disease included 609165||crie 609165||ichthyosis variegata erythrokeratoderma reticular included 609165||ichthyosis with confetti 609165||iwc D052476||hypobetalipoproteinemia familial apolipoprotein b D052476||abetalipoproteinemia normotriglyceridemic steinbert type D052476||apolipoprotein b deficiencies D052476||apolipoprotein b deficiency D052476||apolipoprotein b deficiency disease D052476||hypobetalipoproteinemia familial apo b C536767||xk aprosencephaly C536767||aprosencephaly atelencephaly syndrome C536767||aprosencephaly syndrome C536767||garcia lurie syndrome C536767||xk aprosencephaly syndrome C536767||xk syndrome C536764|194380|C566369||xerocytosis hereditary C536764|194380|C566369||dehydrated hereditary stomatocytosis C536764|194380|C566369||desiccytosis hereditary C536764||hereditary xerocytosis C536765||xeroderma pigmentosum type 9 C536765||xeroderma pigmentosum complementation group 1 C535435||beta sarcoglycanopathy D053579|263800||gitelman syndrome D053579|263800||familial hypokalemia hypomagnesemia D053579|263800||familial hypokalemia hypomagnesemias D053579|263800||gitelman apos s syndrome D053579|263800||gitelmans syndrome D053579|263800||hypokalemia hypomagnesemia familial D053579|263800||hypokalemia hypomagnesemia primary renotubular with hypocalciuria D053579|263800||hypokalemia hypomagnesemias familial D053579|263800||hypomagnesemia hypokalemia primary renotubular with hypocalciuria D053579|263800||primary renotubular hypokalemia hypomagnesemia with hypocalciuria D053579|263800||primary renotubular hypomagnesemia hypokalemia with hypocalciuria D053579|263800||syndrome gitelman D053579|263800||syndrome gitelman apos s D053579|263800||tubular hypomagnesemia hypokalemia with hypocalcuria C535438||bidirectional tachycardia C535438||bidirectional ventricular tachycardia D019048||prostatic intraepithelial neoplasia D019048||intraepithelial neoplasia prostatic D019048||intraepithelial neoplasm prostatic D019048||intraepithelial neoplasms prostatic D019048||intraepithelial prostatic neoplasia D019048||intraepithelial prostatic neoplasias D019048||neoplasia intraepithelial prostatic D019048||neoplasia prostatic intraepithelial D019048||neoplasm prostatic intraepithelial D019048||neoplasms prostatic intraepithelial D019048||prostatic intraepithelial neoplasias D019048||prostatic intraepithelial neoplasm D019048||prostatic intraepithelial neoplasms D019048||prostatic neoplasia intraepithelial C535437||bhaskar jagannathan syndrome 145600|C535694||malignant hyperthermia susceptibility type 1 145600|C535694||hyperpyrexia malignant mh king syndrome included 145600|C535694||king denborough syndrome included 145600|C535694||malignant hyperthermia susceptibility to 1 145600|C535694||mhs 145600|C535694||mhs1 190320||tdo 190320||tdo syndrome C566052|613740||cardiomyopathy dilated 1t C566052|613740||cmd1t C536769||46 xy female C536769||xy female C535439||biemond syndrome type 2 182900|C567159||spherocytosis type 1 182900|C567159||congenital spherocytic hemolytic anemia 182900|C567159||congenital spherocytosis 182900|C567159||hereditary spherocytosis 182900|C567159||hs 182900|C567159||hs1 182900|C567159||sph 182900|C567159||sph1 182900|C567159||spherocytic anemia 182900|C567159||spherocytosis hereditary 1 304120|C538089||oto palato digital syndrome type 2 304120|C538089||andre syndrome 304120|C538089||cranio oro digital syndrome 304120|C538089||cranioorodigital syndrome 304120|C538089||faciopalatoosseous syndrome 304120|C538089||fpo 304120|C538089||opd2 304120|C538089||opd ii syndrome 304120|C538089||opd syndrome 2 304120|C538089||opd syndrome type 2 304120|C538089||otopalatodigital syndrome type 2 304120|C538089||otopalatodigital syndrome type ii C536221|176450||currarino triad C536221|176450||currarino syndrome C536221|176450||currarino triad sacral agenesis syndrome included C536221|176450||sacral agenesis hereditary with presacral mass anterior meningocele and or teratoma and anorectal malformation included C536221|176450||scra1 included C566596||thrombocytosis benign familial microcytic 249700|C537267||langer mesomelic dysplasia 249700|C537267||dyschondrosteosis homozygous 249700|C537267||langer mesomelic dwarfism 249700|C537267||langer mesomelic dyspalsia 249700|C537267||langer type of mesomelic dwarfism 249700|C537267||lmd 249700|C537267||mesomelic dwarfism langer type 249700|C537267||mesomelic dwarfism of the hypoplastic ulna fibula and mandible type C565724|609745||glaucoma 1 open angle i C565724|609745||glc1i C566597||otofacioosseous gonadal syndrome C567068|300645||atypical mycobacteriosis familial x linked 2 C567068|300645||amcbx2 C567068|300645||atypical mycobacterial infection disseminated x linked 2 C567068|300645||atypical mycobacterial infection familial disseminated x linked 2 C567068|300645||mycobacterial disease mendelian susceptibility to x linked recessive 2 C567068|300645||mycobacterial disease susceptibility to x linked 2 C567068|300645||xrmsmd2 C566598||odontotrichoungual digital palmar syndrome C536192|229200||ehlers danlos syndrome 6b C536192|229200||adducted thumb club foot syndrome C536192|229200|601776||adducted thumb clubfoot syndrome C536192|229200||adducted thumbs dundar type C536192|229200|601776||arthrogryposis distal with peculiar facies and hydronephrosis C536192|229200||bcs1 C536192|229200||brittle cornea syndrome C536192|229200||brittle cornea syndrome 1 C536192|229200||corneal fragility keratoglobus blue sclerae joint hyperextensibility C536192|229200||dysgenesis mesodermalis corneae et sclerae C536192|229200|601776||eds6b formerly C536192|229200||ehlers danlos syndrome type vib C536192|229200|601776||ehlers danlos syndrome type vib formerly C536192|229200||fragilitas oculi with joint hyperextensibility C536965|162500||tomaculous neuropathy C536965|162500||compression neuropathy C536965|162500||entrapment neuropathy C536965|162500||familial pressure sensitive neuropathy C536965|162500||hereditary neuropathy with liability to pressure palsies C536965|162500||hereditary neuropathy with liability to pressure palsy C536965|162500||hereditary pressure sensitive neuropathy C536965|162500||hnpp C536965|162500||inherited tendency to pressure palsies C536965|162500||neuropathy hereditary with liability to pressure palsies C536965|162500||polyneuropathy familial recurrent C564637|606995||senior loken syndrome 3 C564637|606995||slsn3 D020019||neurocysticercosis D020019||brain cysticercosis D020019||central nervous system cysticercosis D020019||cysticercosis brain D020019||cysticercosis central nervous system D020019||neurocysticercoses D020018||sexual dysfunctions psychological D020018||arousal disorders sexual D020018||aversion disorders sexual D020018||disorder psychosexual D020018||disorders orgasmic D020018||disorders psychosexual D020018||disorders sexual arousal D020018||disorders sexual aversion D020018||dysfunction psychological sexual D020018||dysfunction psychosexual D020018||dysfunctions psychological sexual D020018||dysfunctions psychosexual D020018||frigidity D020018||hypoactive sexual desire disorder D020018||orgasmic disorder D020018||orgasmic disorders D020018||psychological sexual dysfunction D020018||psychological sexual dysfunctions D020018||psychosexual disorder D020018||psychosexual disorders D020018||psychosexual dysfunction D020018||psychosexual dysfunctions D020018||sexual arousal disorder D020018||sexual arousal disorders D020018||sexual aversion disorder D020018||sexual aversion disorders D020018||sexual dysfunction psychological D020016|188055|C566056||activated protein c resistance D020016|188055|C566056||apc resistance D020016||resistance apc C536913|607464||thyroid cancer hurthle cell C536913|607464||follicular thyroid cancer hurthle cell type C536913|607464||hurthle cell carcinoma of the thyroid C536913|607464||hurthle cell thyroid neoplasia C536913|607464||thyroid cancer follicular hurthle cell type C536913|607464||thyroid carcinoma hurthle cell D007037||hypothyroidism D007037||hypothyroidisms D008368||mansonelliasis D008368||acanthocheilonema perstans infection D008368||acanthocheilonema perstans infections D008368||dipetalonema perstans infection D008368||dipetalonema perstans infections D008368||infection acanthocheilonema perstans D008368||infection dipetalonema perstans D008368||infection mansonella perstans D008368||infections acanthocheilonema perstans D008368||infections dipetalonema perstans D008368||infections mansonella perstans D008368||mansonella perstans infection D008368||mansonella perstans infections D008368||mansonelliases D008368||mansonelloses D008368||mansonellosis D008368||perstans infection acanthocheilonema D008368||perstans infection dipetalonema D008368||perstans infection mansonella D008368||perstans infections acanthocheilonema D008368||perstans infections dipetalonema D008368||perstans infections mansonella 201000|C563187||acrocephalopolysyndactyly type ii 201000|C563187||acps ii 201000|C563187||carpenter syndrome 201000|C563187||carpenter syndrome 1 201000|C563187||crpt1 D007046||hysteria D007046||hysterical neuroses D007046||neuroses hysterical D010688||phimosis D010688||phimoses D010689||phlebitis D010689||periphlebitides D010689||periphlebitis D010689||phlebitides 610141||qt interval variation in D007040||hypoventilation D007040||hypoventilations C565272||liver fibrocystic disease and polydactyly C565273||arthropathy erosive C565271||metaphyseal dysplasia braun tinschert type D063130||maternal death D063130||death maternal D063130||deaths maternal D063130||maternal deaths C536063|259770||osteoporosis pseudoglioma syndrome C536063|259770||oppg C536063|259770||ops C536063|259770||osteogenesis imperfecta ocular form C536063|259770||pseudoglioma with bone fragility C565277||cardiomyopathy dilated with left ventricular noncompaction C563562|158580||neuropathy distal hereditary motor type viia C563562|158580||dhmn7a C563562|158580||dhmnvp C563562|158580||harper young myopathy C563562|158580||hmn7a C563562|158580||hmn viia C563562|158580||neuronopathy distal hereditary motor type viia C563562|158580||spinal muscular atrophy distal with vocal cord paralysis C562447|313400||spondyloepiphyseal dysplasia tarda x linked C562447|313400||sedt C562447|313400||sed tarda x linked C562447|313400||spondyloepiphyseal dysplasia late C564551|300261||armfield x linked mental retardation syndrome C564551|300261||mental retardation x linked armfield type C564551|300261||mental retardation x linked syndromic armfield type C564551|300261||mrxsa D007049||iatrogenic disease D007049||disease iatrogenic D007049||diseases iatrogenic D007049||iatrogenic diseases 264300|C537805||17 hydroxysteroid dehydrogenase deficiency 264300|C537805||17 alpha ketosteroid reductase deficiency of testis 264300|C537805||17 beta hydroxysteroid dehydrogenase 3 deficiency 264300|C537805||17 beta hydroxysteroid dehydrogenase deficiency 264300|C537805||17 beta hydroxysteroid dehydrogenase iii deficiency 264300|C537805||17 ketosteroid reductase deficiency of testis 264300|C537805||17 ksr deficiency 264300|C537805||male pseudohermaphroditism with gynecomastia 264300|C537805||neutral 17 beta hydroxysteroid oxidoreductase deficiency 264300|C537805||pseudohermaphroditism male with gynecomastia 264300|C537805||pseudohermaphroditism male with gynecomastia polycystic ovarian disease due to 17 ketosteroid reductase deficiency included C535356|600790||chorioretinal atrophy progressive bifocal C535356|600790||crapb C535356|600790||pbcra C535356|600790||progressive bifocal chorioretinal atrophy D008379||marburg virus disease D008379||disease marburg D008379||fever marburg hemorrhagic D008379||hemorrhagic fever marburg D008379||marburg disease D008379||marburg hemorrhagic fever C536709||winchester syndrome C536709||winchester disease C536709||winchester grossman disease C536709||winchester grossman syndrome C562694|600669||epilepsy idiopathic generalized C562694|600669||eig C562694|600669||eig11 C562694|600669||eig1 included C562694|600669||eig2 C562694|600669||eig3 C562694|600669||eig4 C562694|600669||eig5 C562694|600669||eig8 C562694|600669||eig9 C562694|600669||eja2 included C562694|600669||ejm6 C562694|600669||ejm6 included C562694|600669||ejm7 included C562694|600669||ejm8 C562694|600669||ejm8 included C562694|600669||epilepsy idiopathic generalized susceptibility to 10 eig10 generalized epilepsy with febrile seizures plus type 5 susceptibility C562694|600669||epilepsy idiopathic generalized susceptibility to 11 C562694|600669||epilepsy idiopathic generalized susceptibility to 2 C562694|600669||epilepsy idiopathic generalized susceptibility to 3 C562694|600669||epilepsy idiopathic generalized susceptibility to 4 C562694|600669||epilepsy idiopathic generalized susceptibility to 5 C562694|600669||epilepsy idiopathic generalized susceptibility to 8 C562694|600669||epilepsy idiopathic generalized susceptibility to 9 C562694|600669||epilepsy idiopathic generalized susceptibility to locus on chromosome 10 C562694|600669||epilepsy idiopathic generalized susceptibility to locus on chromosome 14 C562694|600669||epilepsy idiopathic generalized susceptibility to locus on chromosome 8 included C562694|600669||epilepsy idiopathic generalized susceptibility to locus on chromosome 9 C562694|600669||epilepsy juvenile absence susceptibility to 2 included C562694|600669||epilepsy juvenile myoclonic susceptibility to 6 included C562694|600669||epilepsy juvenile myoclonic susceptibility to 7 included C562694|600669||epilepsy juvenile myoclonic susceptibility to 8 included C562694|600669||gefs5 included C562694|600669||gefs 5 susceptibility to included C562694|600669||gefsp5 susceptibility to included C562694|600669||gefs type 5 susceptibility to included C562694|600669||idiopathic generalized epilepsy C562694|600669||idiopathic generalized epilepsy ige epilepsy idiopathic generalized susceptibility to 1 included 612797||high density lipoprotein cholesterol level quantitative trait locus 12 612797||hdlcq12 D007057||ichthyosis D007057||ichthyoses D007057||xeroderma D007057||xerodermas C536707||wilms tumor and radial bilateral aplasia C536707||bilateral radial aplasia with wilms tumor C536707|601583||wilms tumor 5 C564101|309620||mental retardation skeletal dysplasia and abducens palsy C564101|309620||christian syndrome C564101|309620||chrs C564101|309620||mrsd D010698||phobic disorders D010698||claustrophobia D010698||claustrophobias D010698||disorder phobic D010698||disorders phobic D010698||neuroses phobic D010698||phobia D010698||phobias D010698||phobia school D010698||phobia social D010698||phobias school D010698||phobias social D010698||phobic disorder D010698||phobic neuroses D010698||school phobia D010698||school phobias D010698||social phobia D010698||social phobias C536700||white forelock with malformations C565284||basaloid follicular hamartoma syndrome generalized autosomal dominant C536701||curatolo cilio pessagno syndrome C536701||white matter hypoplasia corpus callosum agenesia and mental retardation C535310|231530||3 hydroxyacyl coa dehydrogenase deficiency C535310|231530||3 alpha hydroxyacyl coenzyme a dehydrogenase deficiency C535310|231530||3 hydroxyacyl coenzyme a dehydrogenase deficiency C535310|231530||had deficiency C535310|231530||hadh deficiency C535310|231530||hadhsc deficiency C535310|231530||l 3 alpha hydroxyacyl coa dehydrogenase short chain deficiency C535310|231530||m schad deficiency C535310|231530||schad deficiency C535310|231530||schad deficiency formerly D008380||marek disease D008380||fowl paralyses D008380||fowl paralysis D008380||marek apos s disease D008380||mareks disease D008380||neurolymphomatoses D008380||neurolymphomatosis D008380||paralyses fowl D008380||paralysis fowl C565285||spondyloocular syndrome autosomal recessive C536704||wiedemann grosse dibbern syndrome C535531|603932||intervertebral disc disease C535531|603932||idd C535531|603932||lumbar disc degeneration susceptibility to included C535531|603932||lumbar disc disease C535531|603932||lumbar disc disease included C535531|603932||lumbar disc herniation susceptibility to included C536705||wiedemann oldigs oppermann syndrome C536705||hirsutism skeletal dysplasia mental retardation syndrome C536702||white platelet syndrome C565282||baby rattle pelvis dysplasia C565247||thyroid carcinoma nonmedullary 1 C565247|606240||nonmedullary thyroid carcinoma 1 C565248||mental retardation short stature facial anomalies and joint dislocations C566575||neuropathy hereditary thermosensitive C566577|C536488|602097||usher syndrome type ie D063169||dentofacial deformities D063169||abnormalities dentofacial D063169||abnormality dentofacial D063169||deformities dentofacial D063169||deformity dentofacial D063169||dentofacial abnormalities D063169||dentofacial abnormality D063169||dentofacial deformity D063169||dentofacial dyplasia D063169||dentofacial dyplasias D063169||dyplasia dentofacial D063169||dyplasias dentofacial D007018||hypopituitarism D007018||adenohypophyseal hyposecretion D007018||anterior pituitary hyposecretion syndrome D007018||disease simmonds D007018||hypopituitarism postpartum D007018||hyposecretion adenohypophyseal D007018||hyposecretion syndrome anterior pituitary D007018||insufficiency pituitary D007018||panhypopituitarism postpartum D007018||pituitary insufficiency D007018||pituitary insufficiency postpartum D007018||postpartum hypopituitarism D007018||postpartum panhypopituitarism D007018||postpartum pituitary insufficiency D007018||sheehan apos s syndrome D007018||sheehans syndrome D007018||sheehan syndrome D007018||simmond apos s disease D007018||simmonds disease D007018||simmonds apos disease D007018||syndrome sheehan D007018||syndrome sheehan apos s D007019||hypoproteinemia D007019||hypoproteinemias D023981||sarcoma myeloid D023981||chloroma D023981||chloromas D023981||extramedullary myeloid cell tumor D023981||granulocytic sarcoma D023981||granulocytic sarcomas D023981||myeloid cell tumor extramedullary D023981||myeloid sarcoma D023981||myeloid sarcomas D023981||sarcoma granulocytic D023981||sarcomas granulocytic D023981||sarcomas myeloid D007014||hypophosphatasia D007014||hypophosphatasias D007015||hypophosphatemia familial D007015||diabetes phosphate D007015||familial hypophosphatemia D007015||familial hypophosphatemias D007015||hyperphosphaturia D007015||hypophosphatemias familial D007015||phosphate diabetes D007015||phosphaturia C536719||yunis varon syndrome C536719||cleidocranial dysplasia micrognathia absent thumbs amp distal aphalangia C536719||cleidocranial dysplasia with micrognathia absent thumbs and distal aphalangia D007024||hypotension orthostatic D007024||hypotension postural D007024||orthostatic hypotension D007024||postural hypotension C536717||young simpson syndrome C536717||blepharophimosis and mental retardation syndrome say barber biesecker young simpson type C536717||blepharophimosis intellectual deficit syndrome say barber biesecker young simpson type C536717||mental retardation unusual facies hypothyroidism C536717||ohdo syndrome say barber biesecker variant C536717||ohdo syndrome say barber biesecker young simpson variant C536717||ohdo syndrome sbbys variant C536717||say barber biesecker young simpson syndrome C536717||say barber biesecker young simpson variant of ohdo syndrome C536717||sbbys variant of ohdo syndrome D007021||hypospadias D007021||hypospadia C536718||young syndrome C536718||azoospermia obstructive and chronic sinopulmonary infections C536718||azoospermia sinopulmonary infections C536718||barry perkins young syndrome C536718||sinusitis infertility syndrome D007022||hypotension D007022||blood pressure low D007022||hypotension vascular D007022||low blood pressure D007022||vascular hypotension D034062|600072||insomnia fatal familial D034062|600072||familial fatal insomnia D034062|600072||familial fatal insomnias D034062|600072||familial fatals insomnia D034062|600072||fatal familial insomnia D034062|600072||fatal familial insomnias D034062|600072||fatal insomnia familial D034062|600072||fatal insomnias familial D034062|600072||fatals insomnia familial D034062|600072||ffi D034062|600072||insomnia familial fatal D034062|600072||insomnia familial fatals D034062|600072||insomnias familial fatal D034062|600072||insomnias fatal familial D007020||hypoprothrombinemias D007020||deficiencies factor ii D007020||deficiencies prothrombin D007020||deficiency factor ii D007020||deficiency prothrombin D007020||factor ii deficiencies D007020||factor ii deficiency D007020||hypoprothrombinemia D007020||prothrombin deficiencies D007020||prothrombin deficiency C579887||african hemochromatosis C579887||african siderosis C536711||winship viljoen leary syndrome C536711||microcephaly cardiomyopathy C536711||microcephaly cardiomyopathy syndrome C536711||microcephaly with cardiomyopathy C536711||microcephaly with mental retardation and dilated cardiomyopathy C536711||severe microcephaly and self limiting dilated cardiomyopathy C536711||severe microcephaly with mental retardation and dilated cardiomyopathy C536712||winter harding hyde syndrome C536712||pachygyria joint contractures facial abnormalities C565252||laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy C565253||developmental delay epilepsy and neonatal diabetes C536715||young hughes syndrome C536715||sex linked mental retardation short stature obesity and hypogonadism C536716||young mckeever squier syndrome C536716||olivopontocerebellar hypoplasia lethal type C536713||yim ebbin syndrome C536713||amelia cleft lip palate hydrocephalus iris coloboma C536713||brachial amelia forebrain defects and facial clefts C536714||yorifuji okuno syndrome C536714||pancreatic hypoplasia diabetes heart disease C565258||fryns aftimos syndrome C565258||cerebrooculofacial lymphatic syndrome C565258||mental retardation with epilepsy and characteristic facies C565258||pachygyria mental retardation epilepsy and characteristic facies C565255||genitopatellar syndrome C565255||absent patellae scrotal hypoplasia renal anomalies facial dysmorphism and mental retardation C536730||zuska apos s disease C536730||lactation and squamous metaplasia of lactiferous ducts C536730||lactiferous fistula C536730||zuska disease C565256||diamond blackfan anemia with microtia and cleft palate C566588||broad terminal phalanges familial D007029||hypothalamic neoplasms D007029||benign hypothalamic neoplasm D007029||benign hypothalamic neoplasms D007029||cancer hypothalamic D007029||cancers hypothalamic D007029||hypothalamic cancer D007029||hypothalamic cancers D007029||hypothalamic chiasmatic neoplasm D007029||hypothalamic chiasmatic neoplasms D007029||hypothalamic neoplasm D007029||hypothalamic neoplasm malignant D007029||hypothalamic neoplasms benign D007029||hypothalamic neoplasms malignant D007029||hypothalamic pituitary neoplasm D007029||hypothalamic pituitary neoplasms D007029||hypothalamic teratoma D007029||hypothalamic teratomas D007029||hypothalamic tumor D007029||hypothalamic tumors D007029||hypothalamo neurohypophysial region neoplasm D007029||hypothalamo neurohypophysial region neoplasms D007029||hypothalamus neoplasm D007029||hypothalamus neoplasms D007029||hypothalamus tumor D007029||hypothalamus tumors D007029||malignant hypothalamic neoplasm D007029||malignant hypothalamic neoplasms D007029||neoplasm benign hypothalamic D007029||neoplasm hypothalamic D007029||neoplasm hypothalamic chiasmatic D007029||neoplasm hypothalamic pituitary D007029||neoplasm hypothalamo neurohypophysial region D007029||neoplasm hypothalamus D007029||neoplasm malignant hypothalamic D007029||neoplasms hypothalamic D007029||neoplasms hypothalamic benign D007029||neoplasms hypothalamic chiasmatic D007029||neoplasms hypothalamic malignant D007029||neoplasms hypothalamic pituitary D007029||neoplasms hypothalamo neurohypophysial region D007029||neoplasms hypothalamus D007029||neoplasms malignant hypothalamic D007029||teratoma hypothalamic D007029||teratomas hypothalamic D007029||tumor hypothalamic D007029||tumor hypothalamus D007029||tumors hypothalamic D007029||tumors hypothalamus C567726|613164||parkinson disease 16 C567726|613164||park16 D007027||hypothalamic diseases D007027||diencephalic syndrome pituitary D007027||diencephalic syndromes pituitary D007027||disease hypothalamic D007027||diseases hypothalamic D007027||disorder hypothalamic adenohypophyseal D007027||disorder hypothalamic neurohypophyseal D007027||disorders hypothalamic adenohypophyseal D007027||disorders hypothalamic neurohypophyseal D007027||dysfunction syndrome hypothalamic D007027||dysfunction syndromes hypothalamic D007027||dysinhibition syndrome hypothalamic D007027||dysinhibition syndromes hypothalamic D007027||froehlich apos s syndrome D007027||froehlichs syndrome D007027||froehlich syndrome D007027||hypothalamic adenohypophyseal disorder D007027||hypothalamic adenohypophyseal disorders D007027||hypothalamic disease D007027||hypothalamic dysfunction syndrome D007027||hypothalamic dysfunction syndromes D007027||hypothalamic dysinhibition syndrome D007027||hypothalamic dysinhibition syndromes D007027||hypothalamic neurohypophyseal disorder D007027||hypothalamic neurohypophyseal disorders D007027||hypothalamic overactivity syndrome D007027||hypothalamic overactivity syndromes D007027||hypothalamic pseudopuberties D007027||hypothalamic pseudopuberty D007027||overactivity syndrome hypothalamic D007027||overactivity syndromes hypothalamic D007027||pituitary diencephalic syndrome D007027||pituitary diencephalic syndromes D007027||pseudopuberties hypothalamic D007027||pseudopuberty hypothalamic D007027||syndrome froehlich apos s D007027||syndrome hypothalamic dysfunction D007027||syndrome hypothalamic dysinhibition D007027||syndrome hypothalamic overactivity D007027||syndromes hypothalamic dysfunction D007027||syndromes hypothalamic dysinhibition D007027||syndromes hypothalamic overactivity D007027||syndromes pituitary diencephalic 612775||cone rod dystrophy 9 612775||cord9 D007035||hypothermia D007035||accidental hypothermia D007035||accidental hypothermias D007035||hypothermia accidental D007035||hypothermias D007035||hypothermias accidental C536728||zori stalker williams syndrome C536728||familial short stature developmental delay pectus abnormalities distinctive facies and dysplastic nails C536728||pectus excavatum macrocephaly and dysplastic nails D010677||philadelphia chromosome D010677||1 chromosome ph D010677||1 chromosomes ph D010677||chromosome ph1 D010677||chromosome ph 1 D010677||chromosome philadelphia D010677||chromosomes ph1 D010677||chromosomes ph 1 D010677||ph 1 chromosome D010677||ph1 chromosome D010677||ph 1 chromosomes D010677||ph1 chromosomes C536729||zunich neuroectodermal syndrome C536729||chime syndrome 310500|C536122||night blindness congenital stationary type 1a 310500|C536122||csnb1a 310500|C536122||csnb complete x linked 310500|C536122||hemeralopia myopia 310500||myopia night blindness nbm1 nyctalopia included 310500|C536122||night blindness congenital stationary with myopia C537761|309500||renpenning syndrome 1 C537761|309500||golabi ito hall syndrome C537761|309500||hamel cerebropalatocardiac syndrome C537761|309500||mental retardation x linked 55 C537761|309500||mental retardation x linked renpenning type C537761|309500||mental retardation x linked syndromic 3 C537761|309500||mental retardation x linked syndromic 8 C537761|309500||mental retardation x linked with spastic diplegia C537761|309500||mrx55 C537761|309500||mrxs3 C537761|309500||mrxs8 C537761|309500||porteous syndrome C537761|309500||renpenning syndrome C537761|309500||rens1 C537761|309500|C538400|601680||shs C537761|309500||sutherland haan syndrome C537761|309500||sutherland haan x linked mental retardation syndrome C537761|309500||x linked intellectual deficit due to pqbp1 mutations C537761|309500||x linked intellectual deficit renpenning type C537761|309500||x linked mental retardation syndromic 3 C537761|309500||x linked mental retardation with spastic diplegia C567405|612162||aneurysm intracranial berry 8 C567405|612162||anib8 D047928||premature birth D047928||birth premature D047928||birth preterm D047928||births premature D047928||births preterm D047928||premature births D047928||preterm birth D047928||preterm births C566592||ectodermal dysplasia pure hair nail type C536722||zap70 deficiency C536722||selective t cell defect C536722||zap70 related scid C536722||zap70 related severe combined immunodeficiency C536722||zeta associated protein 70 deficiency C565429|247640||lymphoblastic leukemia acute with lymphomatous features C565429|247640||lall C565429|247640||lymphomatous all C565262||myopathy distal 2 C565262||distal myopathy with vocal cord and pharyngeal signs C565262||distal myopathy with vocal cord weakness C565262||matrin 3 distal myopathy C565262||mpd2 C565262||myopathia distalis type 2 C565262||vcpdm C565262||vocal cord and pharyngeal dysfunction with distal myopathy C565262||vocal cord and pharyngeal weakness with distal myopathy C536723||zazam sheriff phillips syndrome C536723||aniridia ectopia lentis abnormal upper incisors and mental retardation C536723||aniridia lens luxation mental retardation C536529|606713||van der woude syndrome 2 C536529|606713||vws2 600791||deafness autosomal recessive 4 with enlarged vestibular aqueduct 600791||dfnb4 600791||dva 600791||nsrd4 C536720||yusho disease D059905||endocarditis non infective D059905||endocarditides marantic D059905||endocarditides non infective D059905||endocarditis marantic D059905||endocarditis non bacterial thrombotic D059905||marantic endocarditides D059905||marantic endocarditis D059905||non bacterial thrombotic endocarditis D059905||non infective endocarditides D059905||non infective endocarditis C566595||hyperzincemia with functional zinc depletion C536721||zadik barak levin syndrome C536721||dermoid cysts hypothyroidism cleft palate and hypodontia C536727||zonular cataract and nystagmus C536727||nystagmus with congenital zonular cataract C536724||zerres rietschel majewski syndrome C536528|119300||van der woude syndrome C536528|119300||cleft lip and or palate with mucous cysts of lower lip C536528|119300||lip pit syndrome C536528|119300||lps C536528|119300||pit C536528|119300||van der woude syndrome 1 C536528|119300||vdws C536528|119300||vws1 D007119||immunoblastic lymphadenopathy D007119||angioimmunoblastic lymphadenopathies D007119||angioimmunoblastic lymphadenopathy D007119||immunoblastic lymphadenopathies D007119||lymphadenopathies angioimmunoblastic D007119||lymphadenopathies immunoblastic D007119||lymphadenopathy angioimmunoblastic D007119||lymphadenopathy immunoblastic D046728||colitis microscopic D046728||microscopic colitis D008446||maxillofacial injuries D008446||injuries maxillofacial D008446||injury maxillofacial D008446||maxillofacial injury C566454|609698||thyroid hormone metabolism abnormal D008444||maxillary sinus neoplasms D008444||cancer maxillary sinus D008444||cancer of maxillary sinus D008444||cancers maxillary sinus D008444||maxillary sinus cancer D008444||maxillary sinus cancers D008444||maxillary sinus neoplasm D008444||neoplasm maxillary sinus D008444||neoplasms maxillary sinus D054067|274270||dihydropyrimidine dehydrogenase deficiency D054067|274270||deficiencies dihydropyrimidine dehydrogenase D054067|274270||deficiencies dpd D054067|274270||deficiency dihydropyrimidine dehydrogenase D054067|274270||deficiency dpd D054067|274270||dehydrogenase deficiencies dihydropyrimidine D054067|274270||dehydrogenase deficiency dihydropyrimidine D054067|274270||dihydropyrimidine dehydrogenase deficiencies D054067|274270|C562815|222748||dihydropyrimidinuria D054067|274270||dihydropyrimidinurias D054067|274270||dpd deficiencies D054067|274270||dpd deficiency D054067|274270||dpyd deficiency D054067|274270||familial pyrimidemia D054067|274270||familial pyrimidemias D054067|274270||familial pyrimidinemia D054067|274270||familial pyrimidinemias D054067|274270||hereditary thymine uraciluria D054067|274270||hereditary thymine uracilurias D054067|274270||pyrimidemia familial D054067|274270||pyrimidemias familial D054067|274270||pyrimidinemia familial D054067|274270||pyrimidinemia familial 5 fluorouracil toxicity included D054067|274270||pyrimidinemias familial D054067|274270||thymine uraciluria hereditary D054067|274270||thymine uracilurias hereditary D009784||occupational diseases D009784||disease occupational D009784||diseases occupational D009784||illnesse occupational D009784||illnesses occupational D009784||occupational disease D009784||occupational illnesse D009784||occupational illnesses D009783||dermatitis occupational D009783||dermatitides occupational D009783||dermatoses industrial D009783||dermatosis industrial D009783||industrial dermatoses D009783||industrial dermatosis D009783||occupational dermatitides D009783||occupational dermatitis 308240|D008232||lymphoproliferative disorders 308240|D008232||disease duncan 308240|D008232||diseases x linked lymphoproliferative 308240|D008232||disease x linked lymphoproliferative 308240|D008232||disorder lymphoproliferative 308240|D008232||disorders lymphoproliferative 308240|D008232||disorders x linked lymphoproliferative 308240|D008232||disorder x linked lymphoproliferative 308240|D008232||duncan disease 308240|D008232||duncan apos s syndrome 308240|D008232||ebv infection severe susceptibility to 308240|D008232||ebvs 308240|D008232||epstein barr virus induced lymphoproliferative disease in males 308240|D008232||epstein barr virus infection familial fatal 308240|D008232||familial fatal epstein barr infection 308240|D008232||imd5 308240|D008232||immunodeficiency 5 308240|D008232||immunodeficiency 5s 308240|D008232||immunodeficiency x linked progressive combined variable 308240|D008232||infectious mononucleosis severe susceptibility to 308240|D008232||lymphoproliferative diseases x linked 308240|D008232||lymphoproliferative disease x linked 308240|D008232||lymphoproliferative disorder 308240|D008232||lymphoproliferative disorders x linked 308240|D008232||lymphoproliferative disorder x linked 308240|D008232||lymphoproliferative syndromes x linked 308240|D008232||lymphoproliferative syndrome x linked 308240|D008232||lymphoproliferative syndrome x linked 1 308240|D008232||lyp 308240|D008232||purtilo syndrome 308240|D008232||purtilo syndromes 308240|D008232||syndrome purtilo 308240|D008232||syndromes purtilo 308240|D008232||syndromes x linked lymphoproliferative 308240|D008232||syndrome x linked lymphoproliferative 308240|D008232||x linked lymphoproliferative disease 308240|D008232||x linked lymphoproliferative diseases 308240|D008232||x linked lymphoproliferative disorder 308240|D008232||x linked lymphoproliferative disorders 308240|D008232||x linked lymphoproliferative syndrome 308240|D008232||x linked lymphoproliferative syndromes 308240|D008232||xlp 308240|D008232||xlp1 308240|D008232||xlpd 202370||peroxisome biogenesis disorder 2b 202370||pbd2b D046729||colitis collagenous D046729||collagenous colitis C535938|600668||chondrocalcinosis 1 C535938|600668||ccal1 C535938|600668||chondrocalcinosis with early onset osteoarthritis C562476|141200||hematuria benign familial C562476|141200||bfh C562476|141200||thin basement membrane nephropathy C562476|141200||thin membrane nephropathy C562476|141200||tmn D010760||phosphorus metabolism disorders D010760||disorder phosphorus metabolism D010760||disorders phosphorus metabolism D010760||metabolism disorder phosphorus D010760||metabolism disorders phosphorus D010760||phosphorus metabolism disorder D046730||colitis lymphocytic D046730||lymphocytic colitis C563672|610374||diabetes mellitus transient neonatal 2 C563672|610374||tndm2 C565448|245348||pyruvate dehydrogenase e2 deficiency C565448|245348||lactic acidemia due to defect of e2 lipoyl transacetylase of the pyruvate dehydrogenase complex C565448|245348||pdhdd 300802||mental retardation x linked 96 300802||mrx96 106250|C536373||ankyloblepharon filiforme adnatum cleft palate 106250|C536373||afa 106250|C536373||ankyloblepharon filiforme adnatum 106250|C536373||ankyloblepharon filiforme adnatum and cleft palate 106250|C536373||ankyloblepharon filiforme congenitum 106250|C536373||congenital filiform fusion of the eyelids with cleft palate and or cleft lip D008457||measles D008457||rubeola C566530|602522||bartter syndrome type 4a C566530|602522||bartter syndrome infantile with sensorineural deafness bsnd sensorineural deafness with mild renal dysfunction included 608027|C548072||pontocerebellar hypoplasia type 3 608027|C548072||cerebellar atrophy with progressive microcephaly 608027|C548072||clam 608027|C548072||pch3 608027|C548072||pch with optic atrophy D009794||ochronosis D009794||ochronoses 607906|C535747||congenital disorder of glycosylation type ii 607906|C535747||cdg1i 607906|C535747||cdgii 607906|C535747||cdg ii 607906|C535747||congenital disorder of glycosylation type 1i D019106||postoperative hemorrhage D019106||blood loss postoperative D019106||hemorrhage postoperative D019106||hemorrhages postoperative D019106||loss postoperative blood D019106||postoperative blood loss D019106||postoperative hemorrhages D034721||mastocytosis systemic D034721||aggressive systemic mastocytoses D034721||aggressive systemic mastocytosis D034721||indolent systemic mastocytoses D034721||indolent systemic mastocytosis D034721||mast cell diseases systemic D034721||mast cell disease systemic D034721||mastocytoses aggressive systemic D034721||mastocytoses indolent systemic D034721||mastocytoses systemic D034721||mastocytosis aggressive systemic D034721||mastocytosis indolent systemic D034721||systemic mast cell disease D034721||systemic mast cell diseases D034721||systemic mastocytoses D034721||systemic mastocytoses aggressive D034721||systemic mastocytoses indolent D034721||systemic mastocytosis D034721||systemic mastocytosis aggressive D034721||systemic mastocytosis indolent D004687|166000||enchondromatosis D004687|166000||chondrodysplasia with hemangioma D004687|166000||chondroplasia angiomatosis D004687|166000||disease ollier D004687|166000||disease ollier apos s D004687|166000||dyschondrodysplasia with hemangiomas D004687|166000|239100|D010009||dyschondroplasia D004687|166000||dyschondroplasia and cavernous hemangioma D004687|166000||enchondroma multiple D004687|166000||enchondromas multiple D004687|166000||enchondromatoses D004687|166000||enchondromatosis multiple D004687|166000||enchondromatosis multiple ollier type D004687|166000||enchondromatosis with hemangiomata D004687|166000||enchondromatosis with multiple cavernous hemangiomas D004687|166000||enchondroses multiple D004687|166000||enchondrosis multiple D004687|166000||hemangiomata with dyschondroplasia D004687|166000||hemangiomatosis chondrodystrophica D004687|166000||kast syndrome D004687|166000||maffucci syndrome D004687|166000||multiple angiomas and endochondromas D004687|166000||multiple enchondroma D004687|166000||multiple enchondromas D004687|166000||multiple enchondroses D004687|166000||multiple enchondrosis D004687|166000||ollier disease D004687|166000||ollier apos s disease D004687|166000||olliers disease D004687|166000|D018216|133700||osteochondromatosis D004687|166000||syndrome maffucci C564306|608013||gaucher disease perinatal lethal C564306|608013||gaucher disease collodion type C537952|600143||ceroid lipofuscinosis neuronal 8 C537952|600143||ceroid lipofuscinosis neuronal 8 northern epilepsy variant C537952|600143||cln8 C537952|600143||epilepsy progressive with mental retardation C537952|600143||epmr C537952|600143||northern epilepsy C537952|600143||northern epilepsy syndrome C563137|309549||mental retardation x linked 9 C563137|309549||mental retardation x linked 44 C563137|309549||mrx44 C563137|309549||mrx9 D009759||nystagmus pathologic D009759||alternating nystagmus periodic D009759||conjugate nystagmus D009759||convergence nystagmus D009759||dissociated nystagmus D009759||fatigable positional nystagmus D009759||horizontal nystagmus D009759||jerk nystagmus D009759||multidirectional nystagmus D009759||non fatigable positional nystagmus D009759||nystagmus conjugate D009759||nystagmus convergence D009759||nystagmus dissociated D009759||nystagmus fatigable positional D009759||nystagmus horizontal D009759||nystagmus jerk D009759||nystagmus multidirectional D009759||nystagmus non fatigable positional D009759||nystagmus pendular D009759||nystagmus periodic alternating D009759||nystagmus permanent D009759||nystagmus rebound D009759||nystagmus retraction D009759||nystagmus rotary D009759||nystagmus rotational D009759||nystagmus see saw D009759||nystagmus spontaneous ocular D009759||nystagmus symptomatic D009759||nystagmus temporary D009759||nystagmus unidirectional D009759||nystagmus vertical D009759||ocular nystagmus spontaneous D009759||pathologic nystagmus D009759||pendular nystagmus D009759||periodic alternating nystagmus D009759||permanent nystagmus D009759||positional nystagmus fatigable D009759||positional nystagmus non fatigable D009759||rebound nystagmus D009759||retraction nystagmus D009759||rotary nystagmus D009759||rotational nystagmus D009759||see saw nystagmus D009759||spontaneous ocular nystagmus D009759||symptomatic nystagmus D009759||temporary nystagmus D009759||unidirectional nystagmus D009759||vertical nystagmus C563422|600962||palmoplantar keratoderma nonepidermolytic C563422|600962||keratoderma nonepidermolytic palmoplantar C563422|600962||neppk C563422|600962||nonepidermolytic palmoplantar keratoderma D046748||hematoma epidural spinal D046748||epidural hematoma spinal D046748||epidural hematomas spinal D046748||epidural hemorrhage spinal D046748||epidural hemorrhages spinal D046748||hematoma spinal epidural D046748||hematomas spinal epidural D046748||hemorrhage spinal epidural D046748||hemorrhages spinal epidural D046748||spinal epidural hematoma D046748||spinal epidural hematomas D046748||spinal epidural hemorrhage D046748||spinal epidural hemorrhages C535612|276820||al awadi syndrome C535612|276820||aarrs C535612|276820||al awadi raas rothschild syndrome C535612|276820||al awadi rass rothschild syndrome C535612|276820||limb pelvis hypoplasia aplasia syndrome C535612|276820||lphas C535612|276820||schinzel phocomelia syndrome C535612|276820||ulna and fibula absence of with severe limb deficiency 106700|D012587||scimitar syndrome 106700|D012587||anomalous pulmonary venous return 106700|D012587||anomaly scimitar 106700|D012587||apvr 106700|D012587||pulmonary venous return anomaly 106700|D012587||scimitar anomaly 106700|D012587||syndrome scimitar 106700|D012587||tapvr 106700|D012587||tapvr1 106700|D012587||total anomalous pulmonary venous return 106700|D012587||total anomalous pulmonary venous return 1 D009755||night blindness D009755||blindness night D009755||nyctalopia C563659|610829||holoprosencephaly 9 C563659|610829|C567278||holoprosencephaly with microphthalmia and first branchial arch anomalies C563659|610829||hpe9 C563659|610829||pituitary anomalies with holoprosencephaly like features 188055|C566056||thrombophilia due to activated protein c resistance 188055|C566056||apc resistance leiden type 188055|C566056||factor v leiden thrombophilia 188055|C566056||hereditary resistance to activated protein c 188055|C566056||pccf deficiency 188055|C566056||proc cofactor deficiency 188055|C566056||protein c cofactor deficiency 188055|C566056||thph2 188055|C566056||thrombophilia due to deficiency of activated protein c cofactor 188055|C566056||thrombophilia due to factor v leiden 188055|C566056||thrombophilia v 188055|C566056||thrombophilia v thrombophilia due to factor v leiden included 252600|252650|D009081||mucolipidosis iii alpha beta 252600||ml iii 252600||ml iiia 252600|252650|D009081||ml iii alpha beta 252600|252650|D009081||mucolipidosis iii 252600|252650|D009081||mucolipidosis iiia 252600||pseudo hurler polydystrophy mucolipidosis iii alpha beta atypical included C565145|123000||craniometaphyseal dysplasia autosomal dominant C565145|123000||autosomal dominant craniometaphyseal dysplasia C565145|123000||autosomal recessive craniometaphyseal dysplasia C565145|123000||cmd C565145|123000||cmdd C565145|123000||cmdj C565145|123000||craniometaphyseal dysplasia dominant type C565145|123000||craniometaphyseal dysplasia jackson type D058729||peripheral arterial disease D058729||arterial disease peripheral D058729||arterial diseases peripheral D058729||artery disease peripheral D058729||artery diseases peripheral D058729||disease peripheral arterial D058729||disease peripheral artery D058729||diseases peripheral arterial D058729||diseases peripheral artery D058729||peripheral arterial diseases D058729||peripheral artery disease D058729||peripheral artery diseases 604201||hepatic fibrosis severe susceptibility to due to schistosoma mansoni infection 604201||sm2 hepatic fibrosis severe susceptibility to due to schistosoma japonicum infection included 600886|C538137||hyperferritinemia hereditary with congenital cataracts 600886|C538137||bonneau beaumont syndrome 600886|C538137||dominant hyperferritinemia and cataract 600886|C538137||hereditary hyperferritinemia cataract syndrome 600886|C538137||hereditary hyperferritinemia with congenital cataracts 600886|C538137||hhcs 600886|C538137||hyperferritinemia cataract syndrome 600886|C538137||hyperferritinemia with or without cataract 610064|D009293||opioid related disorders 610064|D009293||abuse narcotic 610064|D009293||abuses narcotic 610064|D009293||addiction narcotic 610064|D009293||addiction opiate 610064|D009293||dependence narcotic 610064|D009293||dependence opiate 610064|D009293||disorder opioid related 610064|D009293||narcotic abuse 610064|D009293||narcotic abuses 610064|D009293||narcotic addiction 610064|D009293||narcotic dependence 610064|D009293||ods1 610064|D009293||opiate addiction 610064|D009293||opiate dependence 610064|D009293||opioid dependence susceptibility to 1 144650|D006954||hyperlipoproteinemia type v 144650|D006954||hyperchylomicronemia late onset 144650|D006954||hyperchylomicronemia late onsets 144650|D006954||hyperchylomicronemias late onset 144650|D006954||hyperchylomicronemia with hyperprebetalipoproteinemia familial 144650|D006954||hyperlipemia combined fat and carbohydrate induced 144650|D006954||hyperlipemia mixed 144650|D006954||hyperlipemias mixed 144650|D006954||hyperlipidemias type v 144650|D006954||hyperlipidemia type v 144650|D006954||hyperlipoproteinemias type v 144650|D006954||hyperlipoproteinemia type 5 144650|D006954||hyperlipoproteinemia type 5s 144650|D006954||late onset hyperchylomicronemia 144650|D006954||late onset hyperchylomicronemias 144650|D006954||mixed hyperlipemia 144650|D006954||mixed hyperlipemias 144650|D006954||type v hyperlipidemia 144650|D006954||type v hyperlipidemias 144650|D006954||type v hyperlipoproteinemia 144650|D006954||type v hyperlipoproteinemias D008439||maxillary diseases D008439||disease maxillary D008439||diseases maxillary D008439||maxillary disease C567628|611225||spastic paraplegia 18 autosomal recessive C567628|611225||idmdc C567628|611225||intellectual disability motor dysfunction and joint contractures C567628|611225||spg18 D009767||obesity morbid D009767||morbid obesities D009767||morbid obesity D009767||obesities morbid D009767||obesities severe D009767||obesity severe D009767||severe obesities D009767||severe obesity D007105||immune complex diseases D007105||disease immune complex D007105||diseases immune complex D007105||hypersensitivities type iii D007105||hypersensitivity type iii D007105||immune complex disease D007105||type iii hypersensitivities D007105||type iii hypersensitivity D007102||immersion foot D007102||feet immersion D007102||feet trench D007102||foot immersion D007102||foot trench D007102||immersion feet D007102||trench feet D007102||trench foot D008441||maxillary neoplasms D008441||maxillary neoplasm D008441||neoplasm maxillary D008441||neoplasms maxillary D008440||maxillary fractures D008440||fracture maxillary D008440||fractures maxillary D008440||maxillary fracture C536085|308205||ichthyosis follicularis atrichia photophobia syndrome C536085|308205||ichthyosis follicularis atrichia and photophobia syndrome C536085|308205||ichthyosis follicularis atrichia and photophobia with or without brain anomalies retardation ectodermal dysplasia skeletal malformations hirschsprung disease ear eye anomalies cleft palate cryptorchidism and kidney dysplasia hypoplasia C536085|308205||ifap syndrome with or without bresheck syndrome 607683|C564348||deafness autosomal dominant 52 607683|C564348||deafness autosomal dominant 42 607683|C564348||dfna42 607683|C564348||dfna52 252650|D009081||mucolipidoses 252650|D009081||alpha beta ml iii 252650|D009081||alpha beta mucolipidosis iii 252650|D009081||alpha betas mucolipidosis iii 252650|D009081||cell disease inclusion 252650|D009081||cell diseases inclusion 252650|D009081||cherry red spot myoclonus syndrome 252650|D009081||deficiencies glycoprotein neuraminidase 252650|D009081||deficiency disease ganglioside sialidase 252650|D009081||deficiency glycoprotein neuraminidase 252650|D009081||disease i cell 252650|D009081||disease inclusion cell 252650|D009081||disease psuedo hurler 252650|D009081||diseases i cell 252650|D009081||diseases inclusion cell 252650|D009081||diseases psuedo hurler 252650|D009081||ganglioside sialidase deficiency disease 252650|D009081||glycoprotein neuraminidase deficiencies 252650|D009081|256550|C537366||glycoprotein neuraminidase deficiency 252650|D009081|252500||i cell disease 252650|D009081||i cell diseases 252650|D009081||iii alpha beta mucolipidosis 252650|D009081||iii alpha betas mucolipidosis 252650|D009081||iiia mucolipidosis 252650|D009081||inclusion cell disease 252650|D009081||inclusion cell diseases 252650|D009081||lipomucopolysaccharidoses 252650|D009081|256550|C537366||lipomucopolysaccharidosis 252650|D009081||ml4 252650|D009081||ml iv 252650|D009081||mucolipidoses type i 252650|D009081||mucolipidoses type ii 252650|D009081||mucolipidoses type iii 252650|D009081||mucolipidoses type iv 252650|D009081||mucolipidosis 252650|D009081|256550|C537366||mucolipidosis i 252650|D009081|252500||mucolipidosis ii 252650|D009081|252500|C567100||mucolipidosis ii alpha beta 252650|D009081||mucolipidosis iiis 252650|D009081||mucolipidosis is 252650|D009081||mucolipidosis iv 252650|D009081||mucolipidosis type 1 252650|D009081||mucolipidosis type 1s 252650|D009081||mucolipidosis type i 252650|D009081||mucolipidosis type ii 252650|D009081||mucolipidosis type iii 252650|D009081||mucolipidosis type is 252650|D009081||mucolipidosis type iv 252650|D009081||mucolipidosis type ivs 252650|D009081||myoclonus cherry red spot syndrome 252650|D009081||neuraminidase deficiencies glycoprotein 252650|D009081||neuraminidase deficiency glycoprotein 252650|D009081||polydystrophy pseudo hurler 252650|D009081||pseudo hurler polydystrophy 252650|D009081||psuedo hurler disease 252650|D009081||psuedo hurler diseases 252650|D009081||sialidoses 252650|D009081||sialidosis 252650|D009081||sialolipidoses 252650|D009081||sialolipidosis 252650|D009081||type iii mucolipidoses 252650|D009081||type iii mucolipidosis 252650|D009081||type ii mucolipidoses 252650|D009081||type ii mucolipidosis 252650|D009081||type i mucolipidoses 252650|D009081||type i mucolipidosis 252650|D009081||type iv mucolipidoses 252650|D009081||type iv mucolipidosis D016537|230500||gangliosidosis gm1 D016537|230500||adult gm1 gangliosidosis D016537|230500||beta galactosidase 1 deficiency D016537|230500||beta galactosidase 1 deficiency disease D016537|230500||beta galactosidase 1 glb1 deficiency D016537|230500||beta galactosidase deficiency D016537|230500||beta galactosidosis D016537|230500||deficiencies glb1 D016537|230500||deficiency beta galactosidase D016537|230500||deficiency beta galactosidase 1 D016537|230500||deficiency glb1 D016537|230500||gangliosidosis adult gm1 D016537|230500||gangliosidosis generalized gm1 adult type D016537|230500||gangliosidosis generalized gm1 chronic type D016537|230500||gangliosidosis generalized gm1 infantile form D016537|230500||gangliosidosis generalized gm1 juvenile type D016537|230500||gangliosidosis generalized gm1 type 1 D016537|230500||gangliosidosis generalized gm1 type 2 D016537|230500||gangliosidosis generalized gm1 type 2 gangliosidosis generalized gm1 late infantile type included D016537|230500||gangliosidosis generalized gm1 type 3 D016537|230500||gangliosidosis generalized gm1 type i D016537|230500||gangliosidosis generalized gm1 type ii D016537|230500||gangliosidosis generalized gm1 type iii D016537|230500||gangliosidosis generalized gm1 type i with cardiac involvement included D016537|230500||gangliosidosis g m1 D016537|230500||gangliosidosis gm1 adult D016537|230500||gangliosidosis gm1 infantile D016537|230500||gangliosidosis gm1 juvenile D016537|230500||gangliosidosis gm1 type 1 D016537|230500||gangliosidosis gm1 type 2 D016537|230500||gangliosidosis gm1 type 3 D016537|230500||generalized gangliosidosis D016537|230500||glb1 deficiency D016537|230500||glb1 deficiency gm1 gangliosidosis type i with cardiac involvement included D016537|230500||gm1 gangliosidoses type i D016537|230500||gm1 gangliosidoses type ii D016537|230500||gm1 gangliosidoses type iii D016537|230500||g m1 gangliosidosis D016537|230500||gm1 gangliosidosis D016537|230500||gm1 gangliosidosis adult D016537|230500||gm1 gangliosidosis type i D016537|230500||gm1 gangliosidosis type ii D016537|230500||gm1 gangliosidosis type iii D016537|230500||infantile gangliosidosis gm1 D016537|230500||juvenile gangliosidosis gm1 D016537|230500||type 3 adult gm1 gangliosidosis D016537|230500||type i gm1 gangliosidoses D016537|230500||type i gm1 gangliosidosis D016537|230500||type ii gm1 gangliosidoses D016537|230500||type ii gm1 gangliosidosis D016537|230500||type iii gm1 gangliosidoses D016537|230500||type iii gm1 gangliosidosis C567766|613080||46 xy sex reversal 5 C567766|613080||46 xy gonadal dysgenesis complete cbx2 related C567766|613080||46 xy sex reversal cbx2 related C567766|613080||disorder of sex development 46 xy cbx2 related C567766|613080||sex reversal xy cbx2 related C567766|613080||srxy5 D058739||aberrant crypt foci D058739||crypt foci aberrant D058739||foci aberrant crypt D034701||mastocytosis cutaneous D034701||bullous mastocytoses D034701||bullous mastocytosis D034701||cutaneous mastocytoses D034701||cutaneous mastocytoses diffuse D034701||cutaneous mastocytosis D034701||cutaneous mastocytosis diffuse D034701||mastocytoses bullous D034701||mastocytoses cutaneous D034701||mastocytoses skin D034701||mastocytosis bullous D034701||mastocytosis diffuse cutaneous D034701||mastocytosis skin D034701||skin mastocytoses D034701||skin mastocytosis D058734||exsanguination D058734||exsanguinating hemorrhage D058734||exsanguinating hemorrhages D058734||hemorrhage exsanguinating D058734||hemorrhages exsanguinating C537206|117360||spinocerebellar ataxia 29 C537206|117360||acv C537206|117360||aplasia of cerebellar vermis C537206|117360||cerebellar ataxia congenital nonprogressive autosomal dominant C537206|117360||cerebellar ataxia early onset nonprogressive C537206|117360||cerebellar vermis aplasia C537206|117360||cnpca C537206|117360||sca29 D058736||intrauterine device migration D058736||device migration intrauterine D058736||device migrations intrauterine D058736||intrauterine device migrations D058736||iud migration D058736||iud migrations D058736||migration intrauterine device D058736||migration iud D058736||migrations intrauterine device D058736||migrations iud 135290|C535944||desmoid disease hereditary 135290|C535944||desmoid tumor caused by somatic mutation 135290|C535944||familial infiltrative fibromatosis 135290|C535944||fibromatosis familial infiltrative 135290|C535944||fibromatosis familial infiltrative fif desmoid tumor caused by somatic mutation included C536697|193670||whim syndrome C536697|193670||warts hypogammaglobulinemia infections and myelokathexis C564252|608361||spondyloepiphyseal dysplasia kimberley type C564252|608361||sedk D046768|D044903|256450||nesidioblastosis D046768|D044903|256450||hyperinsulinism familial with pancreatic nesidioblastosis D046768||nesidioblastoses D046768||nesidioblastoses pancreatic D046768|D044903|256450||nesidioblastosis of pancreas D046768||nesidioblastosis pancreatic D046768||pancreas nesidioblastoses D046768||pancreas nesidioblastosis D046768||pancreatic nesidioblastoses D046768||pancreatic nesidioblastosis D058745||iliotibial band syndrome D058745||syndrome iliotibial band C566645|601666||diabetes mellitus insulin dependent 15 C566645|601666||iddm15 C566645|601666||insulin dependent diabetes mellitus 15 C562812|212138||carnitine acylcarnitine translocase deficiency C562812|212138||cactd C562812|212138||cact deficiency C562812|212138||carnitine acylcarnitine carrier deficiency D009748||nutrition disorders D009748||nutritional disorder D009748||nutritional disorders D009748||nutrition disorder D008417||mastoiditis D008417||mastoiditides 607507|D015535||arthritis psoriatic 607507|D015535||arthritic psoriasis 607507|D015535||arthropathies psoriatic 607507|D015535||arthropathy psoriatic 607507|D015535||psoras1 607507|D015535||psoriasis arthritic 607507|D015535||psoriasis arthropathica 607507|D015535||psoriatic arthritis 607507|D015535||psoriatic arthritis susceptibility to psoriatic arthritis susceptibility to 1 607507|D015535||psoriatic arthropathies 607507|D015535||psoriatic arthropathy D008415||mastocytosis D008415||disease mast cell D008415||diseases mast cell D008415||mast cell disease D008415||mast cell diseases D008415||mastocytoses D008414||mastitis bovine D008414||bovine mastitides D008414||bovine mastitis D008414||mastitides bovine D008413||mastitis D009750||nutritional and metabolic diseases C563310|601458||inflammatory bowel disease 2 C563310|601458||ibd2 D005645|230000||fucosidosis D005645|230000||1 fucosidosis type D005645|230000||alpha fucosidase deficiency D005645|230000||alpha fucosidase deficiency disease D005645|230000||alpha fucosidase deficiency diseases D005645|230000||alpha l fucosidase deficiency D005645|230000||alpha l fucosidase deficiency disease D005645|230000||alpha l fucosidase deficiency diseases D005645|230000||deficiency disease alpha fucosidase D005645|230000||deficiency disease alpha l fucosidase D005645|230000||deficiency disease fucosidase D005645|230000||deficiency diseases alpha fucosidase D005645|230000||deficiency diseases alpha l fucosidase D005645|230000||deficiency diseases fucosidase D005645|230000||disease alpha fucosidase deficiency D005645|230000||disease alpha l fucosidase deficiency D005645|230000||disease fucosidase deficiency D005645|230000||diseases alpha fucosidase deficiency D005645|230000||diseases alpha l fucosidase deficiency D005645|230000||diseases fucosidase deficiency D005645|230000||fucosidase deficiency D005645|230000||fucosidase deficiency disease D005645|230000||fucosidase deficiency diseases D005645|230000||fucosidosis infantile D005645|230000||fucosidosis juvenile D005645|230000||fucosidosis type 1 D005645|230000||fucosidosis type 1s D005645|230000||fucosidosis type i D005645|230000||fucosidosis type ii D005645|230000||infantile fucosidosis D005645|230000||juvenile fucosidosis D005645|230000||type 1 fucosidosis D005645|230000||type 1s fucosidosis C564522|300387||mental retardation x linked 63 C564522|300387||mental retardation x linked 68 C564522|300387||mrx63 C564522|300387||mrx68 C562735|166350||osseous heteroplasia progressive C562735|166350||cutaneous ossification C562735|166350||ectopic ossification familial C562735|166350||osteodermia C562735|166350||osteoma cutis C562735|166350||osteosis cutis C562735|166350||poh C562735|166350||progressive osseous heteroplasia C537409|300755||bruton type agammaglobulinemia C537409|300755||agammaglobulinemia bruton tyrosine kinase C537409|300755||agammaglobulinemia btk C537409|300755||agammaglobulinemia x linked C537409|300755||agammaglobulinemia x linked type 1 C537409|300755||agammaglobulinemia x linked type i C537409|300755||agmx1 C537409|300755||bruton apos s agammaglobulinemia C537409|300755||bruton type congenital x linked agammaglobulinemia C537409|300755||congenital agammaglobulinemia C537409|300755||immunodeficiency 1 C537409|300755||immunodeficiency 1 imd1 hypogammaglobulinemia x linked included C537409|300755||xla C537409|300755||x linked agammaglobulinemia C567818|613006||diabetes mellitus insulin dependent 24 C567818|613006||iddm24 C565261|606071||hereditary motor and sensory neuropathy type iic C565261|606071||charcot marie tooth disease axonal autosomal dominant type 2c C565261|606071||charcot marie tooth neuropathy type 2c C565261|606071||cmt2c C565261|606071||hmsn2c C565261|606071||hmsn iic D046789||chondromalacia patellae D046789||patella chondromalacia of C567691|613225||factor xiii a subunit deficiency of C565232|606367||interleukin 2 receptor alpha deficiency of C565232|606367||cd25 deficiency C565232|606367||il2ra deficiency D046788||patellofemoral pain syndrome D046788||anterior knee pain syndrome D046788||pain syndrome patellofemoral D046788||patellofemoral syndrome 151900||fml 151900||lipo 151900||lipomatosis familial multiple C563922|608474||myopia 5 C563922|608474||myopia 5 autosomal dominant C563922|608474||myp5 184250|C537501||strudwick syndrome 184250|C537501||dappled metaphysis syndrome 184250|C537501||sed strudwick 184250|C537501||semdc 184250|C537501||semd strudwick type 184250|C537501||semdstwk 184250|C537501||smd 184250|C537501||smed strudwick type 184250|C537501||smed type i 184250|C537501||spondyloepimetaphyseal dysplasia strudwick type 184250|C537501||spondylometaepiphyseal dysplasia congenita strudwick type 184250|C537501||spondylometaphyseal dysplasia 184250|C537501||spondylometaphyseal dysplasia smd D056104||commotio cordis D056104||cardiac concussion D056104||cardiac concussions D056104||concussion cardiac D056104||concussions cardiac C567034|610978||choreoathetosis hypothyroidism and neonatal respiratory distress C567034|610978||brain lung thyroid syndrome C567034|610978||cahtp C567034|610978||choreoathetosis and congenital hypothyroidism C567034|610978||choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction C563685|609923||retinitis pigmentosa 31 C563685|609923||rp31 D045463||avulavirus infections D045463||avulavirus infection D045463||infection avulavirus D045463||infections avulavirus D045464||henipavirus infections D045464||henipavirus infection D045464||infection henipavirus D045464||infections henipavirus C535274|309610||prieto x linked mental retardation syndrome C535274|309610||mental retardation x linked syndromic 2 C535274|309610||mental retardation x linked with dysmorphism and cerebral atrophy C535274|309610||mrxs2 C535274|309610||prieto syndrome C535274|309610||prs C535274|309610||x linked dysmorphic syndrome with mental retardation 300511|C564498||premature ovarian failure 2a 300511|C564498||pof2a C538212|300009||dent disease 1 C538212|300009||nephrolithiasis 2 C538212|300009||nephrolithiasis hypercalciuria x linked C538212|300009||nephrolithiasis hypercalciuric x linked C538212|300009||nphl2 C538212|300009||urolithiasis hypercalciuric x linked 256540|C536411||neuraminidase deficiency with beta galactosidase deficiency 256540|C536411||cathepsin a deficiency 256540|C536411||cathepsin a deficiency of 256540|C536411||deficiency of cathepsin a 256540|C536411||galactosialidosis 256540|C536411||goldberg syndrome 256540|C536411||gsl 256540|C536411||lysosomal protective protein deficiency 256540|C536411||lysosomal protective protein deficiency of 256540|C536411||neuraminidase beta galactosidase expression 256540|C536411||ngbe 256540|C536411||ppca deficiency 256540|C536411||protective protein cathepsin a deficiency 607655|C564359||skin fragility woolly hair syndrome 607655|C564359||sfwhs 310460|C564091||myopia 1 310460|C564091||myopia 1 x linked 310460|C564091||myopia x linked 310460|C564091||myp1 249900|C562609||metachromatic leukodystrophy due to saposin b deficiency 249900|C562609||metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency 249900|C562609||saposin b deficiency C536187||ectrodactyly cardiopathy dysmorphism C536187||ectrodactyly of lower limbs congenital heart defect and characteristic facies C536187||van den ende brunner syndrome C536184||familial ectopia lentis C536184||ectopia lentis familial C536184||ectopia lentis isolated C536184||isolated ectopia lentis C562472||teratoma testicular C562477||halothane hepatitis C562478||hypogammaglobulinemia x linked C536188||blepharo cheilo dontic syndrome C536188||blepharocheilodontic syndrome C536188||clefting ectropion and conical teeth C536188||elschnig syndrome C536188||lagophthalmia with bilateral cleft lip and palate C536189||ectrodactyly cleft lip palate syndrome C536189||cleft lip cleft palate lobster claw deformity syndrome C536189||ectrodactyly ectodermal dysplasia clefting eec syndrome C536189||eec syndrome C536189||rudiger syndrome 1 C536189||walker clodius syndrome C567305|612448||age related hearing impairment 1 C567305|612448||arhi1 C567305|612448||presbycusis 1 611093|C567016||mental retardation autosomal recessive 7 611093|C567016||mental retardation autosomal recessive 22 611093|C567016||mrt22 611093|C567016||mrt7 C537537|605407||segawa syndrome autosomal recessive C537537|605407||autosomal recessive infantile parkinsonism C537537|605407||dopa responsive dystonia autosomal recessive C537537|605407||dystonia dopa responsive autosomal recessive C537537|605407||dystonia dopa responsive with or without hyperphenylalaninemia autosomal recessive C537537|605407||parkinsonism infantile autosomal recessive C537537|605407||th deficient drd C537537|605407||tyrosine hydroxylase deficiency C566236|108985||sveinsson chorioretinal atrophy C566236|108985||aa C566236|108985||atrophia areata C566236|108985||helicoidal peripapillary chorioretinal degeneration C566236|108985||hpcd C566236|108985||peripapillary chorioretinal degeneration icelandic type C566236|108985||scra D044148||lymphatic abnormalities D044148||abnormalities lymphatic D044148||abnormality lymphatic D044148||lymphatic abnormality C536182||ectodermal dysplasia sensorineural hearing loss and distinctive facial features 275350||transcobalamin ii deficiency 275350||tc ii deficiency 275350||tcn2 deficiency C536180||ectodermal dysplasia hidrotic christianson fourie type C566921|611548||premature ovarian failure 5 C566921|611548||pof5 607196|C538247||amish lethal microcephaly 607196|C538247||amish microcephaly 607196|C538247||mcpha 607196|C538247||microcephaly amish type 607196|C538247||thiamine metabolism dysfunction syndrome 3 microcephaly type 607196|C538247||thmd3 D056124||slit ventricle syndrome D056124||slit ventricle syndromes D056124||syndrome slit ventricle D056124||syndromes slit ventricle D006010|232400||glycogen storage disease type iii D006010|232400||agl deficiency D006010|232400||amylo 1 6 glucosidase deficiencies D006010|232400||amylo 1 6 glucosidase deficiency D006010|232400||cori disease D006010|232400||cori apos s disease D006010|232400||coris disease D006010|232400||debrancher deficiencies D006010|232400||debrancher deficiencies glycogen D006010|232400||debrancher deficiency D006010|232400||debrancher deficiency glycogen D006010|232400||deficiencies amylo 1 6 glucosidase D006010|232400||deficiencies debrancher D006010|232400||deficiencies glycogen debrancher D006010|232400||deficiency amylo 1 6 glucosidase D006010|232400||deficiency debrancher D006010|232400||deficiency glycogen debrancher D006010|232400||dextrinoses limit D006010|232400||dextrinosis limit D006010|232400||disease cori D006010|232400||disease cori apos s D006010|232400||disease forbes D006010|232400||forbes disease D006010|232400||gde deficiency glycogen storage disease iiia included D006010|232400||glycogen debrancher deficiencies D006010|232400||glycogen debrancher deficiency D006010|232400||glycogen debranching enzyme deficiency D006010|232400||glycogenosis 3 D006010|232400||glycogenosis 3s D006010|232400||glycogen storage disease iii D006010|232400||glycogen storage disease iiib included D006010|232400||glycogen storage disease iiic included D006010|232400||glycogen storage disease iiid included D006010|232400||glycogen storage disease type 3 D006010|232400||gsd3 D006010|232400||gsd iiia included D006010|232400||gsd iiib included D006010|232400||gsd iiic included D006010|232400||gsd iiid included D006010|232400||limit dextrinoses D006010|232400||limit dextrinosis D014286||trilogy of fallot D014286||fallot apos s trilogy D014286||fallots trilogy D014286||fallot trilogy D014286||trilogy fallot apos s C562481||urticaria aquagenic D056128||obesity abdominal D056128||abdominal obesities D056128||abdominal obesity D056128||central obesities D056128||central obesity D056128||obesities abdominal D056128||obesities central D056128||obesities visceral D056128||obesity central D056128||obesity visceral D056128||visceral obesities D056128||visceral obesity 139393|D020275||guillain barre syndrome 139393|D020275||acute autoimmune neuropathies 139393|D020275||acute autoimmune neuropathy 139393|D020275||acute infectious polyneuritis 139393|D020275||acute inflammatory demyelinating polyneuropathy 139393|D020275||acute inflammatory demyelinating polyradiculoneuropathy 139393|D020275||acute inflammatory polyneuropathies 139393|D020275||acute inflammatory polyneuropathy 139393|D020275||acute inflammatory polyradiculoneuropathies 139393|D020275||acute inflammatory polyradiculoneuropathy 139393|D020275||autoimmune neuropathies acute 139393|D020275||autoimmune neuropathy acute 139393|D020275||cidp included 139393|D020275||demyelinating polyradiculoneuropathy acute inflammatory 139393|D020275||gbs 139393|D020275||guillain barr 233 syndrome 139393|D020275||guillain barre syndrome familial 139393|D020275||guillaine barre syndrome 139393|D020275||inflammatory demyelinating polyradiculoneuropathy acute 139393|D020275||inflammatory polyneuropathies acute 139393|D020275||inflammatory polyneuropathy acute 139393|D020275||inflammatory polyneuropathy acutes 139393|D020275||inflammatory polyradiculoneuropathies acute 139393|D020275||landry guillain barre syndrome 139393|D020275||neuropathies acute autoimmune 139393|D020275||neuropathy acute autoimmune 139393|D020275||polyneuropathies acute inflammatory 139393|D020275||polyneuropathy acute inflammatory 139393|D020275||polyneuropathy inflammatory demyelinating acute 139393|D020275||polyneuropathy inflammatory demyelinating acute aidp polyneuropathy inflammatory demyelinating chronic included 139393|D020275||polyradiculoneuropathies acute inflammatory 139393|D020275||polyradiculoneuropathy acute inflammatory 139393|D020275||polyradiculoneuropathy acute inflammatory demyelinating 139393|D020275||syndrome guillain barre 139393|D020275||syndrome guillaine barre 139393|D020275||syndrome landry guillain barre C562484||hairy ears C562484||hypertrichosis pinnae auris C536197||ehlers danlos syndrome type 5 C536197||ehlers danlos syndrome type v C562485||pili torti C562485||twisted hair C567377|612262||inflammatory bowel disease 18 C567377|612262||ibd18 C562483||granulosis rubra nasi C562489||lymphoid interstitial pneumonia C562486||perifolliculitis capitis abscedens et suffodiens familial C562486||dissecting cellulitis of the scalp C564596|607304||cataract nuclear progressive C564596|607304||cataract 27 C564596|607304||cataract 27 nuclear progressive C564596|607304||cataract congenital nuclear progressive C564596|607304||ccnp C564596|607304||ctrct27 C536199||ehlers danlos syndrome beasley cohen type C536199||ehlers danlos syndrome with mental retardation deafness and cataract C562487||eosinophilic fasciitis D007645|248300||keratoderma palmoplantar D007645|248300||de meleda mal D007645|248300||disease meleda D007645|248300||hyperkeratosis palmaris et plantaris D007645|248300||keratodermas palmoplantar D007645|248300||keratoses palmoplantar D007645|248300||keratosis palmaris et plantaris D007645|248300||keratosis palmoplantar D007645|248300||keratosis palmoplantaris transgradiens of siemens D007645|248300||keratosis palmoplantaris transgrediens of siemens D007645|248300||mal de meleda D007645|248300||mdm D007645|248300||meleda disease D007645|248300||meleda mal de D007645|248300||palmoplantar keratoderma D007645|248300||palmoplantar keratodermas D007645|248300||palmoplantar keratoses D007645|248300||palmoplantar keratosis 222800||bisphosphoglycerate mutase deficiency 222800||bisphosphoglyceromutase deficiency 222800||bpgm deficiency 222800||diphosphoglycerate mutase deficiency of erythrocyte 222800||dpgm deficiency C536742|241080||woodhouse sakati syndrome C536742|241080||extrapyramidal disorder progressive with primary hypogonadism mental retardation and alopecia C536742|241080||hypogonadism alopecia diabetes mellitus mental retardation and extrapyramidal syndrome C536742|241080||hypogonadism alopecia diabetes mellitus mental retardation deafness and extrapyramidal syndrome C562492||robinow syndrome autosomal dominant C562492||acral dysostosis with facial and genital abnormalities C562492||fetal face syndrome C562492||mesomelic dwarfism small genitalia syndrome C562492||robinow dwarfism C562492||robinow silverman smith syndrome C562492||robinow syndrome C562451||hyperbilirubinemia shunt C563781||erythrokeratoderma reticular C563781||aarau disease C563780||branchiogenic deafness syndrome C563787||tibia bowing of with pseudarthrosis and pectus excavatum C562456||volvulus of midgut C567686|613243||cardiomyopathy familial hypertrophic 13 C567686|613243||cmh13 C563784||arrhythmogenic right ventricular dysplasia familial 7 C563784||arrhythmogenic right ventricular cardiomyopathy 7 C563784|601419||desmin related myopathy with arrhythmogenic right ventricular cardiomyopathy C563784|601419||myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy C563784||myopathy desmin related with arrhythmogenic right ventricular cardiomyopathy C566381|603387||megalanecephaly polymicrogyria polydactyly hydrocephalus syndrome C566381|603387||megalencephaly mega corpus callosum and complete lack of motor development C566381|603387||megalencephaly polymicrogyria mega corpus callosum syndrome C566381|603387||megalencephaly polymicrogyria polydactyly hydrocephalus syndrome C566381|603387||meg pmg megacc syndrome C566381|603387||mpph D002288||adenocarcinoma mucinous D002288||adenocarcinomas mucinous D002288||carcinoma colloid D002288||carcinoma mucinous D002288||carcinomas colloid D002288||carcinomas mucinous D002288||colloid carcinoma D002288||colloid carcinomas D002288||mucinous adenocarcinoma D002288||mucinous adenocarcinomas D002288||mucinous carcinoma D002288||mucinous carcinomas D002289||carcinoma non small cell lung D002289||carcinomas non small cell lung D002289||lung carcinoma non small cell D002289||lung carcinomas non small cell D002289||nonsmall cell lung cancer D002289||non small cell lung cancer D002289||non small cell lung carcinoma D002289||non small cell lung carcinomas D056150||acute generalized exanthematous pustulosis D056150||acute localized exanthematous pustulosis D056150||pustulosis exanthematous acute generalized D056150||pustulosis exanthematous acute localized D002284||carcinoma brown pearce D002284||brown pearce carcinoma D002284||brown pearce epithelioma D002284||epithelioma brown pearce D002285||carcinoma intraductal noninfiltrating D002285||carcinoma intraductal D002285||carcinoma noninfiltrating intraductal D002285||carcinomas intraductal D002285||carcinomas noninfiltrating intraductal D002285||dcis D002285||ductal carcinoma in situ D002285||intraductal carcinoma D002285||intraductal carcinoma noninfiltrating D002285||intraductal carcinomas D002285||intraductal carcinomas noninfiltrating D002285||noninfiltrating intraductal carcinoma D002285||noninfiltrating intraductal carcinomas D002286||carcinoma ehrlich tumor D002286||ascites tumor ehrlich D002286||ehrlich ascites tumor D002286||ehrlich tumor carcinoma D002286||tumor ehrlich ascites C535896|601287||limb girdle muscular dystrophy type 2f C535896|601287||lgmd2f C535896|601287||muscular dystrophy limb girdle type 2f C535896|601287||muscular dystrophy limb girdle with delta sarcoglyan deficiency D002287||carcinoma krebs 2 D002287||krebs 2 carcinoma C563690|609909||cardiomyopathy dilated 1p C563690|609909||cmd1p D002291||carcinoma papillary D002291||carcinomas papillary D002291||papillary carcinoma D002291||papillary carcinomas D056146||corpse dismemberment D056146||cadaver dismemberment D056146||cadaver dismemberments D056146||corpse dismemberments D056146||dismemberment cadaver D056146||dismemberment corpse D056146||dismemberments cadaver D056146||dismemberments corpse D002293||adenocarcinoma scirrhous D002293||adenocarcinomas scirrhous D002293||carcinoma scirrhous D002293||carcinomas scirrhous D002293||scirrhous adenocarcinoma D002293||scirrhous adenocarcinomas D002293||scirrhous carcinoma D002293||scirrhous carcinomas D002294||carcinoma squamous cell D002294||carcinoma epidermoid D002294||carcinoma planocellular D002294||carcinomas epidermoid D002294||carcinomas planocellular D002294||carcinoma squamous D002294||carcinomas squamous D002294||carcinomas squamous cell D002294||epidermoid carcinoma D002294||epidermoid carcinomas D002294||planocellular carcinoma D002294||planocellular carcinomas D002294||squamous carcinoma D002294||squamous carcinomas D002294||squamous cell carcinoma D002294||squamous cell carcinomas D015597||pregnancy complications parasitic D015597||complication parasitic pregnancy D015597||complications parasitic pregnancy D015597||complications pregnancies parasitic D015597||complications pregnancy parasitic D015597||parasitic complications pregnancies D015597||parasitic complications pregnancy D015597||parasitic pregnancy complication D015597||parasitic pregnancy complications D015597||pregnancies parasitic complications D015597||pregnancy complication parasitic D015597||pregnancy parasitic complications D014264||tricuspid valve stenosis D014264||stenoses tricuspid valve D014264||stenosis tricuspid valve D014264||tricuspid valve stenoses D014264||valve stenoses tricuspid D014264||valve stenosis tricuspid D014263||tricuspid valve prolapse D014263||prolapses tricuspid valve D014263||prolapse tricuspid valve D014263||tricuspid valve prolapses D014263||valve prolapses tricuspid D014263||valve prolapse tricuspid D015594||optic disk drusen D015594||drusen optic disc D015594||drusen optic disk D015594||drusen optic nerve D015594||optic disc drusen D015594||optic disc drusens D015594||optic disk drusens D015594||optic nerve drusen 182212|C537328||shprintzen golberg craniosynostosis 182212|C537328||craniosynostosis and marfanoid disorder type 1 182212|C537328||craniosynostosis with arachnodactyly and abdominal hernias 182212|C537328||marfanoid craniosynostosis syndrome 182212|C537328||marfanoid disorder with craniosynostosis type i 182212|C537328|C536632|269150||sgs 182212|C537328||shprintzen golberg craniosynostosis syndrome 182212|C537328||shprintzen goldberg craniosynostosis syndrome 182212|C537328||shprintzen goldberg syndrome C536632|269150||schinzel giedion syndrome C536632|269150||schinzel giedion midface retraction syndrome C562461||annular erythema C567475|300707||toe syndactyly telecanthus and anogenital and renal malformations C567475|300707||star C567475|300707||star syndrome C567475|300707||syndactyly with renal and anogenital malformations 226730|C535377||epidermolysis bullosa with pyloric atresia 226730|C535377||aplasia cutis congenita with gastrointestinal atresia 226730|C535377||carmi syndrome 226730|C535377||eb pa 226730|C535377||eb pa acc 226730|C535377||epidermolysis bullosa junctionalis with pyloric atresia 226730|C535377||epidermolysis bullosa junctional with pyloric atresia 226730|C535377||epidermylosis bullosa junctional with pyloric atresia and aplasia cutis congenita 226730|C535377||jeb pa 226730|C535377||junctional epidermolysis bullosa with pyloric atresia 226730|C535377||pa jeb C562464||polyposis gastric 208540||renal hepatic pancreatic dysplasia 1 208540||rhpd 208540||rhpd1 C562469||paralysis agitans juvenile of hunt C562469||parkinson disease juvenile of hunt C565551|231095||ghosal hematodiaphyseal dysplasia C565551|231095||ghdd C565551|231095||ghosal syndrome D002295||carcinoma transitional cell D002295||carcinomas transitional cell D002295||cell carcinomas transitional D002295||cell carcinoma transitional D002295||transitional cell carcinoma D002295||transitional cell carcinomas D002296||carcinosarcoma D002296||carcinosarcomas 180550|C535684||ring dermoid of cornea 180550|C535684||bilateral annular limbal dermoids with corneal and conjunctival extension 180550|C535684||rdc 180550|C535684||ring dermoid syndrome C537393|601321||neurofibromatosis noonan syndrome C537393|601321||neurofibromatosis with noonan phenotype C537393|601321||nfns C537393|601321||noonan neurofibromatosis syndrome C565324|605543||parkinson disease 4 autosomal dominant lewy body C565324|605543||park4 C565324|605543||parkinson disease 4 autosomal dominant 300607|C564474||hyperekplexia and epilepsy 300607|C564474||eiee8 300607|C564474||epileptic encephalopathy early infantile 8 D056151||airway remodeling D056151||airway remodeling asthmatic D056151||airway remodelings D056151||airway remodelings asthmatic D056151||airway remodeling small D056151||airway remodelings small D056151||airway remodelling D056151||airway remodelling asthmatic D056151||airway remodellings D056151||airway remodellings asthmatic D056151||airway remodelling small D056151||airway remodellings small D056151||airway wall remodelling D056151||airway wall remodellings D056151||asthmatic airway remodeling D056151||asthmatic airway remodelings D056151||asthmatic airway remodelling D056151||asthmatic airway remodellings D056151||asthmatic airway wall remodeling D056151||asthmatic airway wall remodelling D056151||remodeling airway D056151||remodeling asthmatic airway D056151||remodelings airway D056151||remodelings asthmatic airway D056151||remodeling small airway D056151||remodelings small airway D056151||remodelling airway D056151||remodelling airway wall D056151||remodelling asthmatic airway D056151||remodellings airway D056151||remodellings airway wall D056151||remodellings asthmatic airway D056151||remodelling small airway D056151||remodellings small airway D056151||small airway remodeling D056151||small airway remodelings D056151||small airway remodelling D056151||small airway remodellings D056151||wall remodelling airway D056151||wall remodellings airway 604273||mitochondrial complex v atp synthase deficiency nuclear type 1 mc5dn1 mitochondrial complex v atp synthase deficiency atpaf2 type D014277||trigeminal neuralgia D014277||disease fothergill D014277||epileptiform neuralgia D014277||epileptiform neuralgias D014277||fothergill disease D014277||idiopathic trigeminal neuralgia D014277||idiopathic trigeminal neuralgias D014277||neuralgia epileptiform D014277||neuralgia idiopathic trigeminal D014277||neuralgia secondary trigeminal D014277||neuralgias epileptiform D014277||neuralgias idiopathic trigeminal D014277||neuralgias secondary trigeminal D014277||neuralgias trifacial D014277||neuralgias trigeminal D014277||neuralgia trifacial D014277||neuralgia trigeminal D014277||secondary trigeminal neuralgia D014277||secondary trigeminal neuralgias D014277||tic douloureux D014277||trifacial neuralgia D014277||trifacial neuralgias D014277||trigeminal neuralgia idiopathic D014277||trigeminal neuralgias D014277||trigeminal neuralgia secondary D014277||trigeminal neuralgias idiopathic D014277||trigeminal neuralgias secondary D038223||post concussion syndrome D038223||chronic post concussive syndrome D038223||chronic post concussive syndromes D038223||post concussion symptom D038223||post concussion symptoms D038223||post concussive symptom D038223||post concussive symptoms D038223||post concussive syndrome D038223||post concussive syndrome chronic D038223||post concussive syndromes D038223||post concussive syndromes chronic D038223||symptom post concussive D038223||syndrome chronic post concussive D038223||syndrome post concussive D038223||syndromes chronic post concussive D038223||syndromes post concussive C567435|612017||pyloric stenosis infantile hypertrophic 3 C567435|612017||ihps3 C566916|611560||joubert syndrome 7 C566916|611560||jbts7 C537473||milner khallouf gibson syndrome C536142||megalencephaly cutis marmorata telangiectatica congenita C536142||macrocephaly capillary malformation C536142||macrocephaly cutis marmorata telangiectatica congenita C536142||megalocephaly cutis marmorata telangiectatica congenita C537474||minicore myopathy antenatal onset with arthrogryposis C537474||multicore myopathy antenatal onset with arthrogryposis C537474||multiminicore myopathy antenatal onset with arthrogryposis C536143||neuhauser syndrome C536143||cerebral palsy hypotonic seizures megalcornea syndrome C536143||megalocornea macrocephaly mental and motor retardation mmmm syndrome C536143||megalocornea mental retardation syndrome C536143||mmr syndrome C536143||seizures hypotonic cerebral palsy megalocornea mental retardation syndrome C536915|188550||thyroid cancer papillary C536915|188550||familial nonmedullary thyroid cancer C536915|188550||familial nonmedullary thyroid cancer papillary C536915|188550||nonmedullary thyroid carcinoma C536915|188550||nonmedullary thyroid carcinoma papillary C536915|188550||pact C536915|188550||papillary carcinoma of thyroid C536915|188550||papillary thyroid carcinoma C536915|188550||ptc C536915|188550||thyroid carcinoma papillary C536915|188550||tpc C537471||midphalangeal hair C537471||middigital hair C536140||megaepiphyseal dwarfism C536140|215150||chondrodystrophy with sensorineural deafness C536140||insley astley syndrome C536140||mega epiphyseal dwarfism C536140|215150||nance insley syndrome C536140|215150||nance sweeney chondrodysplasia C536140|215150||otospondylomegaepiphyseal dysplasia C536140||oto spondylo megaepiphyseal dysplasia C536140||oto spondylo mega epiphyseal dysplasia C563765||hypotrichosis progressive patterned scalp with wiry hair onycholysis and cleft lip palate C563765||marie unna like scalp hypotrichosis C537477||mitochondrial neurogastrointestinal encephalopathy syndrome C537477||mitochondrial dna depletion syndrome 1 C537477||mitochondrial dna depletion syndrome 8a C537477||mitochondrial dna depletion syndrome encephalomyopathic form with renal tubulopathy autosomal recessive C537477||mitochondrial myopathy with sensorimotor polyneuropathy ophthalmoplegia and pseudo obstruction C537477||mitochondrial neurogastrointestinal encephalopathy disease C537477||mitochondrial neurogastrointestinal encephalopathy syndrome rrm2b related C537477||mngie disease C537477||mngie rrm2b related C537477||mngie syndrome C537477||mngie without leukoencephalopathy C537477||oculogastrointestinal muscular dystrophy C537477||polyneuropathy ophthalmoplegia leukoencephalopathy and intestinal pseudo obstruction C537477||thymidine phosphorylase deficiency C536146||mehes syndrome C537478||mitral valve prolapse familial x linked C537478|157700||barlow syndrome C537478|157700||mitral regurgitation familial C537478|157700||myxomatous valvular disease familial C536147||mehta lewis patton syndrome C536147||congenital heart disease ptosis hypodontia and craniosynostosis C536144||megalocytic interstitial nephritis C536144||interstitial megalocytic nephritis C536144||transplant megalocytic interstitial nephritis type 137440|D016098||gerstmann straussler scheinker disease 137440|D016098||disease gerstmann straussler 137440|D016098||diseases gerstmann straussler 137440|D016098||encephalopathy subacute spongiform gerstmann straussler type 137440|D016098||gerstmann straussler disease 137440|D016098||gerstmann straussler diseases 137440|D016098||gerstmann straussler inherited spongiform encephalopathy 137440|D016098||gerstmann straussler scheinker syndrome 137440|D016098||gerstmann straussler syndrome 137440|D016098||gsd 137440|D016098||gss 137440|D016098||inherited spongiform encephalopathy gerstmann straussler 137440|D016098||prion dementia cerebral amyloid angiopathy prnp related included C537476||mitochondrial myopathy with lactic acidosis C536145||megarbane syndrome C562438||hemangiomatosis cutaneous with associated features C562435||choanal atresia posterior 603622|C538050||deafness autosomal dominant nonsyndromic sensorineural 17 603622|C538050||cochleosaccular degeneration included 603622|C538050|153640|C535507||deafness autosomal dominant 17 603622|C538050|153640|C535507||dfna17 603622|C538050||late onset progressive hereditary hearing impairment due to cochleosaccular degeneration C537483|604360||spastic paraplegia 11 autosomal recessive C537483|604360|C580453||hsp tcc C537483|604360||spastic paraplegia autosomal recessive complicated with thin corpus callosum C537483|604360||spastic paraplegia autosomal recessive with mental impairment and thin corpus callosum C537483|604360||spg11 C567408|612138||epidermolysis bullosa simplex with pyloric atresia C567408|612138||ebs pa C567408|612138||ebs with pyloric atresia C567382|612247||crouzon syndrome with acanthosis nigricans C567382|612247||can C567382|612247||crouzonodermoskeletal syndrome D002270||carbuncle D002270||carbuncles C566617|601846||vacuolar neuromyopathy C566617|601846||mdrv C566617|601846||muscular dystrophy autosomal dominant with rimmed vacuoles 191181||suppressor of tumorigenicity 3 191181||ccts 191181||cervical carcinoma tumor suppressor gene involved in 191181||st3 191181||tshl 191181||tumor suppressor gene hela cell type C567057|610852||ciliary dyskinesia primary 6 C567057|610852||cild6 C536139||megaduodenum C536139||fetal megacystis C536139||megacystis C565629|222400||diaphragmatic hernia 2 C565629|222400||dih2 C537468||microspherophakia with hernia C537469||microtia meatal atresia and conductive deafness C537469||familial microtia and meatal atresia C537469||familial microtia with meatal atresia and conductive deafness C537469||gupta patton syndrome C537469||microtia meatal atresia deafness dominant C537469||microtia with meatal atresia and conductive deafness C536138|155310||megacystis microcolon intestinal hypoperistalsis syndrome C536138|155310||berdon syndrome C563375|239200||hyperparathyroidism neonatal severe primary C563375|239200||hyperparathyroidism neonatal severe C563375|239200||nhpt C563375|239200||nshpt C563375|239200||nsph D014247||trichomonas vaginitis D014247||trichomonas vaginitides D014247||vaginitides trichomonas D014247||vaginitis trichomonas D014245||trichomonas infections D014245||infections trichomonas D014245||infection trichomonas D014245||trichomonas infection D015576||hyperostosis D015576||bone hypertrophies D015576||bone hypertrophy D015576||hyperostoses D015576||hypertrophies bone D015576||hypertrophy bone C563772||spondyloepiphyseal dysplasia tarda autosomal recessive leroy spranger type C536153||keratoderma palmoplantar spastic paralysis C536153||axonal neuropathy with palmoplantar keratoderma C536153||charcot marie tooth disease with palmoplantar keratoderma and nail dystrophy C536153||keratoderma palmoplantar with nail dystrophy and hereditary motor sensory neuropathy C536154||keratoderma palmoplantaris transgrediens C536154||erythrokeratodermia variabilis with erythema gyratum repens C536154||keratosis palmoplantaris transgrediens et progrediens 248600|D008375||maple syrup urine disease 248600|D008375||bckd deficiency 248600|D008375||branched chain alpha keto acid dehydrogenase deficiency 248600|D008375||branched chain ketoaciduria 248600|D008375||branched chain ketoacidurias 248600|D008375||classical maple syrup urine disease 248600|D008375||classic maple syrup urine disease 248600|D008375||intermediate maple syrup urine disease 248600|D008375||intermittent maple syrup urine disease 248600|D008375||keto acid decarboxylase deficiency 248600|D008375||keto acid decarboxylase deficiency maple syrup urine disease classic included 248600|D008375||ketoaciduria branched chain 248600|D008375||ketoacidurias branched chain 248600|D008375||maple syrup urine disease classic 248600|D008375||maple syrup urine disease classical 248600|D008375||maple syrup urine disease intermediate 248600|D008375||maple syrup urine disease intermediate included 248600|D008375||maple syrup urine disease intermittent 248600|D008375||maple syrup urine disease intermittent included 248600|D008375||maple syrup urine disease thiamine responsive 248600|D008375||maple syrup urine disease thiamine responsive included 248600|D008375||maple syrup urine disease type ia included 248600|D008375||maple syrup urine disease type ib included 248600|D008375||maple syrup urine disease type ii included 248600|D008375||msud 248600|D008375||msud1a included 248600|D008375||msud1b included 248600|D008375||msud2 included 248600|D008375||msud maple syrup urine disease 248600|D008375||thiamine responsive maple syrup urine disease C536151||keratoconus posticus circumscriptus C537488||stern lubinsky durrie syndrome C536157||keratosis focal palmoplantar gingival C536157||focal palmoplantar and gingival hyperkeratosis syndrome C536157||focal palmoplantar and oral mucosa hyperkeratosis C536157||keratosis focal palmoplantar and gingival D014262||tricuspid valve insufficiency D014262||incompetence tricuspid D014262||incompetence tricuspid valve D014262||insufficiency tricuspid valve D014262||regurgitation tricuspid D014262||regurgitation tricuspid valve D014262||tricuspid incompetence D014262||tricuspid regurgitation D014262||tricuspid valve incompetence D014262||tricuspid valve regurgitation D014262||valve incompetence tricuspid D014262||valve insufficiency tricuspid D014262||valve regurgitation tricuspid D015593||retinal drusen D015593||drusen retinal C537489||sternal cleft C537489||congenital sternal cleft C536158||keratosis follicularis dwarfism cerebral atrophy C536158||keratosis follicularis dwarfism and cerebral atrophy C537277|610293||glycosylphosphatidylinositol deficiency C537277|610293||gpi deficiency C562442||mucopolysaccharidoses unclassified types C567543|613079||deafness autosomal recessive 77 C567543|613079||dfnb77 D018814|162300||multiple endocrine neoplasia type 2b D018814|162300||mea 2b D018814|162300||mea iib D018814|162300||men2b D018814|162300||men 2b D018814|162300||men 3 D018814|162300||men iib D018814|162300||men iii D018814|162300||mucosal neuroma syndrome D018814|162300||mucosal neuroma syndromes D018814|162300||multiple endocrine neoplasia type iib D018814|162300||multiple endocrine neoplasia type iii formerly men3 formerly mucosal neuroma syndrome included D018814|162300||multiple endocrine neoplasms type 2b D018814|162300||neoplasia multiple endocrine type 2b D018814|162300||neoplasms multiple endocrine type 2b D018814|162300||neuroma syndrome mucosal D018814|162300||neuromata mucosal with endocrine tumors D018814|162300||syndrome wagenmann froboese D018814|162300||wagenmann froboese syndrome C562443||weaver like syndrome C537487||steatocystoma multiplex with natal teeth C537487||natal teeth and steatocystoma multiplex C536156||keratomalacia C536156||retinol deficiency C536156||xerotic keratitis D002277||carcinoma D002277||anaplastic carcinoma D002277||anaplastic carcinomas D002277||carcinoma anaplastic D002277|D009369||carcinomas D002277||carcinomas anaplastic D002277||carcinoma spindle cell D002277||carcinomas spindle cell D002277||carcinomas undifferentiated D002277||carcinomatoses D002277||carcinomatosis D002277||carcinoma undifferentiated D002277||epithelial neoplasm malignant D002277||epithelial neoplasms malignant D002277||epithelial tumor malignant D002277||epithelial tumors malignant D002277||epithelioma D002277||epitheliomas D002277||malignant epithelial neoplasm D002277||malignant epithelial neoplasms D002277||malignant epithelial tumor D002277||malignant epithelial tumors D002277||neoplasm malignant epithelial D002277||neoplasms malignant epithelial D002277||spindle cell carcinoma D002277||spindle cell carcinomas D002277||tumor malignant epithelial D002277||tumors malignant epithelial D002277||undifferentiated carcinoma D002277||undifferentiated carcinomas C537880|607330||lathosterolosis C537880|607330||3 beta hydroxysteroid delta 5 desaturase deficiency C537880|607330||deficiency of 3 beta hydroxysteroid delta 5 desaturase C537880|607330||sc5d deficiency C537880|607330||sterol c5 desaturase deficiency D002278||carcinoma in situ D002278||carcinoma intraepithelial D002278||carcinoma preinvasive D002278||intraepithelial carcinoma D002278||intraepithelial neoplasm D002278||intraepithelial neoplasms D002278||neoplasm intraepithelial D002278||neoplasms intraepithelial D002278||preinvasive carcinoma C562446||russell silver syndrome x linked C562446||russell silver like syndrome with skin pigmentation D002279||carcinoma 256 walker D002279||carcinosarcoma 256 walker D002279||walker carcinoma 256 D002279||walker carcinosarcoma 256 D002275||carcinoid heart disease D002275||carcinoid heart diseases D002275||heart disease carcinoid D002275||heart diseases carcinoid D002276||carcinoid tumor D002276||argentaffinoma D002276||argentaffinomas D002276||carcinoid D002276||carcinoid goblet cell D002276||carcinoids D002276||carcinoids goblet cell D002276||carcinoid tumors D002276||goblet cell carcinoid D002276||goblet cell carcinoids D002276||tumor carcinoid D002276||tumors carcinoid D002281||carcinoma basosquamous D002281||basosquamous carcinoma D002281||basosquamous carcinomas D002281||carcinomas basosquamous D002282||adenocarcinoma bronchiolo alveolar D002282||adenocarcinoma alveolar D002282||adenocarcinomas alveolar D002282||adenocarcinomas bronchiolo alveolar D002282||alveolar adenocarcinoma D002282||alveolar adenocarcinomas D002282||alveolar carcinoma D002282||alveolar carcinomas D002282||alveolar cell carcinoma D002282||bronchiolar carcinoma D002282||bronchiolar carcinomas D002282||bronchiolo alveolar adenocarcinoma D002282||bronchiolo alveolar adenocarcinomas D002282||bronchioloalveolar carcinoma D002282||bronchiolo alveolar carcinoma D002282||bronchioloalveolar carcinomas D002282||bronchiolo alveolar carcinomas D002282||carcinoma alveolar D002282||carcinoma bronchiolar D002282||carcinoma bronchioloalveolar D002282||carcinoma bronchiolo alveolar D002282||carcinomas alveolar D002282||carcinomas bronchiolar D002282||carcinomas bronchioloalveolar D002282||carcinomas bronchiolo alveolar D002283||carcinoma bronchogenic D002283||bronchial carcinoma D002283||bronchial carcinomas D002283||bronchogenic carcinoma D002283||bronchogenic carcinomas D002283||carcinoma bronchial D002283||carcinomas bronchial D002283||carcinomas bronchogenic C562664|300600||aland island eye disease C562664|300600||aied C562664|300600||forsius eriksson type ocular albinism C537479||mixed sclerosing bone dystrophy C536148||meier blumberg imahorn syndrome C536148||idiopathic hypercalciuria with bilateral macular colobomata D014253||trichostrongylosis D014253||trichostrongyloses D014252||trichostrongyloidiasis D014252||trichostrongyloidiases D014257||trichuriasis D014257||trichocephaliases D014257||trichocephaliasis D014257||trichuriases 202400|C531603||afibrinogenemia congenital 202400|C531603||congenital afibrinogenaemia 202400|C531603||dysfibrinogenemia congenital included 202400|C531603||hypodysfibrinogenemia congenital included 202400|C531603||hypofibrinogenemia congenital 202400|C531603||hypofibrinogenemia congenital included C537496||stoelinga de koomen davis syndrome C537496||multiple non erupting teeth maxillo zygomatical hypoplasia and other congenital defects C537496||non erupted teeth with maxillary hypoplasia and genu valgum D016890||encephalitozoonosis D016890||encephalitozoonoses D002249||carbon monoxide poisoning D002249||carbon monoxide poisonings D002249||gas poisoning illuminating D002249||gas poisonings illuminating D002249||illuminating gas poisoning D002249||illuminating gas poisonings D002249||monoxide poisoning carbon D002249||monoxide poisonings carbon D002249||poisoning carbon monoxide D002249||poisoning illuminating gas D002249||poisonings carbon monoxide D002249||poisonings illuminating gas C537497||stoll alembik dott syndrome C537497||ventricular extrasystoles with syncope perodactyly and robin sequence C536166||keshan disease C537498||stoll levy francfort syndrome C537498||facioauriculoradial dysplasia C537498||phocomelia ectrodactyly ear malformation deafness and sinus arrhythmia C563745||b cell immunodeficiency distal limb anomalies and urogenital malformations C563745||bilu syndrome C537491||stewart treves syndrome C537491||angiosarcoma associated with chronic lymphedema C537491||lymphangiosarcoma following mastectomy C537491||postmastectomy extremity angiosarcoma 306900|D002836||hemophilia b 306900|D002836||b hemophilia 306900|D002836||bs hemophilia 306900|D002836||christmas disease 306900|D002836||deficiencies f9 306900|D002836||deficiencies factor ix 306900|D002836||deficiency f9 306900|D002836||deficiency factor ix 306900|D002836||disease christmas 306900|D002836||f9 deficiencies 306900|D002836||f9 deficiency 306900|D002836||factor ix deficiencies 306900|D002836||factor ix deficiency 306900|D002836||haemophilia b 306900|D002836||haemophilia bs 306900|D002836||hemb 306900|D002836||hemophilia b leyden 306900|D002836||hemophilia b leyden included 306900|D002836||hemophilia b m 306900|D002836||hemophilia bs 306900|D002836||hemophilia bs m 306900|D002836||plasma thromboplastin component deficiency 306900|D002836||plasma thromboplastin component deficiency hemophilia b m included C562417||adactylia unilateral C562417||terminal transverse defects of hand unilateral C537490||lyngstadaas syndrome C537490||steroid dehydrogenase deficiency dental anomalies D029503|105650||anemia diamond blackfan D029503|105650|612561|C538442||aase smith syndrome ii D029503|105650|C538442||aase syndrome D029503|105650||anemia blackfan diamond D029503|105650|C538442||anemia congenital erythroid hypoplastic D029503|105650||anemia congenital hypoplastic of blackfan and diamond D029503|105650||anemia diamond blackfan type D029503|105650||anemias hypoplastic congenital D029503|105650|C538442||aregenerative anemia chronic congenital D029503|105650||bds D029503|105650||blackfan diamond anemia D029503|105650||blackfan diamond disease D029503|105650||blackfan diamond syndrome D029503|105650||chronic congenital agenerative anemia D029503|105650||congenital anemia hypoplastic D029503|105650||congenital anemias hypoplastic D029503|105650||congenital erythroid hypoplastic anemia D029503|105650||congenital hypoplastic anemia of blackfan and diamond D029503|105650||congenital pure red cell anemia D029503|105650||congenital pure red cell aplasia D029503|105650||dba D029503|105650||dba1 D029503|105650||diamond anemia blackfan D029503|105650||diamond blackfan anemia D029503|105650|C567302||diamond blackfan anemia 1 D029503|105650||diamond blackfan type anemia D029503|105650||disease blackfan diamond D029503|105650||erythroblastopenia inherited D029503|105650||erythroblastopenias inherited D029503|105650||erythrogenesis imperfecta D029503|105650||erythrogenesis imperfectas D029503|105650||hypoplastic congenital anemia D029503|105650||hypoplastic congenital anemias D029503|105650||imperfecta erythrogenesis D029503|105650||imperfectas erythrogenesis D029503|105650||inherited erythroblastopenia D029503|105650||inherited erythroblastopenias D029503|105650||pure hereditary red cell aplasia D029503|105650||red cell aplasia pure hereditary D016888||angiodysplasia D016888||angiodysplasias D016881||microsporidiosis D016881||infection microspora D016881||infections microspora D016881||microspora infection D016881||microspora infections D016881||microsporidioses C562880|130900||amelogenesis imperfecta type iii C562880|130900||adhcai C562880|130900||ai3 C562880|130900||amelogenesis imperfecta hypocalcification type autosomal dominant C562880|130900||amelogenesis imperfecta hypomineralization type D016883||diabetic ketoacidosis D016883||acidoses diabetic D016883||acidosis diabetic D016883||diabetic acidoses D016883||diabetic acidosis D016883||diabetic ketoacidoses D016883||diabetic ketoses D016883||diabetic ketosis D016883||ketoacidoses diabetic D016883||ketoacidosis diabetic D016883||ketoses diabetic D016883||ketosis diabetic D016884||polyendocrinopathies autoimmune D016884||aire deficiencies D016884||aire deficiency D016884|C538275|240300||apeced D016884||aps type 1 D016884||autoimmune polyendocrine syndrome type 2 D016884||autoimmune polyendocrine syndrome type ii D016884||autoimmune polyendocrinopathy D016884|C538275|240300||autoimmune polyendocrinopathy candidiasis ectodermal dystrophy D016884|C538275|240300||autoimmune polyendocrinopathy syndrome type 1 D016884||autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy D016884||autoimmune polyglandular syndrome type 1 D016884||autoimmune polyglandular syndrome type 3 D016884|C538275|240300||autoimmune polyglandular syndrome type i D016884||autoimmune polyglandular syndrome type ii D016884||autoimmune polyglandular syndrome type iii D016884||autoimmune syndrome type iii polyglandular D016884||autoimmune syndrome type ii polyglandular D016884||autoimmune syndrome type i polyglandular D016884||deficiency aire D016884||diabetes mellitus addison disease myxedema D016884||diabetes mellitus addison apos s disease myxedema D016884||multiple endocrine deficiency syndrome type 2 D016884||polyendocrine autoimmune syndrome type ii D016884||polyendocrinopathy autoimmune D016884||polyendocrinopathy candidiasis ectodermal dystrophy autoimmune D016884||polyglandular autoimmune syndrome type 1 D016884||polyglandular autoimmune syndrome type 2 D016884||polyglandular autoimmune syndrome type 3 D016884|C538275|240300||polyglandular autoimmune syndrome type i D016884||polyglandular deficiency syndrome type 2 D016884||polyglandular type i autoimmune syndrome D016884||polyglandular type ii autoimmune syndrome D016884||polyglandular type iii autoimmune syndrome D016884||schmidt apos s syndrome D016884||schmidt syndrome D016884||syndrome schmidt D016884||syndrome schmidt apos s C563469|600624||cone rod dystrophy 1 C563469|600624||cord1 C563469|600624||crd1 C563030|140700||heinz body anemias C536179||feingold trainer syndrome C536179||unusual facies cleft palate short stature and mental retardation C562423||deafness progressive high tone neural C536177||dincsoy salih patel syndrome C536177||dincsoy syndrome C536177||midline malformations multiple with limb abnormalities and hypopituitarism C536178||feigenbaum bergeron richardson syndrome D003586||cytomegalovirus infections D003586||cytomegalic inclusion disease D003586||cytomegalic inclusion diseases D003586||cytomegalovirus infection D003586||disease cytomegalic inclusion D003586||diseases cytomegalic inclusion D003586||inclusion disease D003586||inclusion disease cytomegalic D003586||inclusion diseases D003586||inclusion diseases cytomegalic D003586||infection cytomegalovirus D003586||infections cytomegalovirus D003586||salivary gland virus disease C562424||ehlers danlos syndrome autosomal dominant type unspecified C562424||ehlers danlos syndrome friedman harrod type D002252||carbon tetrachloride poisoning D002252||carbon tetrachloride poisonings D002252||ccl4 poisoning D002252||ccl4 poisonings D002252||poisoning carbon tetrachloride D002252||poisoning ccl4 D002252||poisonings carbon tetrachloride C536172||dieterich apos s disease C536172||avascular necrosis of the metacarpal head C536172||dieterich disease 314250|C564048||dystonia 3 torsion x linked 314250|C564048||dystonia parkinsonism x linked 314250|C564048||dyt3 314250|C564048||lubag 314250|C564048||lubag syndrome 314250|C564048||torsion dystonia parkinsonism filipino type 314250|C564048||xdp 314250|C564048||x linked dystonia parkinsonism 314250|C564048||x linked dystonia parkinsonism syndrome 314250|C564048||x linked torsion dystonia parkinsonism syndrome D016893||carotid stenosis D016893||artery narrowing carotid D016893||artery narrowings carotid D016893||artery plaque carotid D016893||artery plaques carotid D016893||artery stenoses carotid D016893||artery stenosis carotid D016893||carotid artery narrowing D016893||carotid artery narrowings D016893||carotid artery plaque D016893||carotid artery plaques D016893||carotid artery stenoses D016893||carotid artery stenosis D016893||carotid artery ulcerating plaque D016893||carotid stenoses D016893||carotid ulcer D016893||carotid ulcers D016893||common carotid artery stenosis D016893||external carotid artery stenosis D016893||internal carotid artery stenosis D016893||narrowing carotid artery D016893||narrowings carotid artery D016893||plaque carotid artery D016893||plaques carotid artery D016893||plaque ulcerating carotid artery D016893||stenoses carotid D016893||stenoses carotid artery D016893||stenosis carotid D016893||stenosis carotid artery D016893||stenosis common carotid artery D016893||stenosis external carotid artery D016893||ulcerating plaque carotid artery D016893||ulcer carotid D016893||ulcers carotid D014235||trichinellosis D014235||human trichinelloses D014235||human trichinellosis D014235||trichinelliases D014235||trichinelliasis D014235||trichinelloses D014235||trichinelloses human D014235||trichinellosis human D014235||trichinoses D014235||trichinosis D001019||aortic rupture D001019||aneurysm ruptured aortic D001019||aneurysms ruptured aortic D001019||aortic aneurysm ruptured D001019||aortic aneurysms ruptured D001019||aortic ruptures D001019||rupture aortic D001019||ruptured aortic aneurysm D001019||ruptured aortic aneurysms D001019||ruptures aortic D001018||aortic diseases D001018||aortic disease D001018||disease aortic D001018||diseases aortic C537551||microcornea corectopia macular hypoplasia C536220||curly hair acral keratoderma caries syndrome D001017||aortic coarctation D001017||aorta coarctation D001017||aorta coarctations D001017||aorta dominant coarctation D001017||aorta dominant coarctations D001017||aortic coarctations D001017||coarctation aortic D001017||coarctation of aorta D001017||coarctation of aorta dominant D001017||coarctation of the aorta D001017||coarctations aortic C537554||microgastria limb reduction defect C537554||congenital microgastria and limb reduction defects C537554||microgastria limb reduction defects association C536224||cutaneous photosensitivity and colitis lethal C536224||early cutaneous photosensitivity and severe colitis C563840||cryohydrocytosis stomatin deficient with mental retardation seizures cataracts and massive hepatosplenomegaly C563840||stomatin deficient cryohydrocytosis with neurologic defects C537552||microcornea glaucoma and absent frontal sinuses C537552||hereditary microcornea glaucoma and absent frontal sinuses C537553||microdontia hypodontia short stature C537315|301790||spinocerebellar ataxia x linked 3 C537315|301790||ataxia deafness syndrome x linked C537315|301790||scax3 C537315|301790||schmidley syndrome D001010||anxiety separation D001010||anxiety disorder separation D001010||separation anxiety D001010||separation anxiety disorder C563844|608840||muscular dystrophy congenital type 1d D002345||carotid body tumor D002345||carotid body paraganglioma D002345||carotid body paragangliomas D002345|D010235|168000||carotid body tumors D002345|D010235|168000||paraganglioma carotid body D002345||paragangliomas carotid body D002345||tumor carotid body D002345||tumors carotid body D003677||deficiency diseases D003677||deficiency disease D003677||disease deficiency D003677||diseases deficiency D001015||aortic arch syndromes D001015||aortic arch syndrome D001015||syndrome aortic arch D001015||syndromes aortic arch C563849||alpha b crystallinopathy with cataract C563849||desmin related myopathy with cataract D001014||aortic aneurysm D001014||aneurysm aortic D001014||aneurysms aortic D001014||aortic aneurysms D002340||carotid artery diseases D002340||arterial disease carotid D002340||arterial diseases carotid D002340||arterial diseases common carotid D002340||arterial diseases external carotid D002340||arterial diseases internal carotid D002340||artery disease carotid D002340||artery diseases carotid D002340||artery disorder carotid D002340||artery disorders carotid D002340||atherosclerotic disease carotid D002340||atherosclerotic diseases carotid D002340||carotid arterial disease D002340||carotid arterial diseases D002340||carotid artery disease D002340||carotid artery disorder D002340||carotid artery disorders D002340||carotid atheroscleroses D002340||carotid atherosclerosis D002340||carotid atherosclerotic disease D002340||carotid atherosclerotic diseases D002340||common carotid artery diseases D002340||disorders carotid artery D002340||external carotid artery diseases D002340||internal carotid artery diseases C565301|605728||cataract central saccular with sutural opacities C565301|605728||cataract 25 C565301|605728||cataract central pouch like with sutural opacities C565301|605728||ccsso C565301|605728||ctrct25 C563747|609286||progressive external ophthalmoplegia with mitochondrial dna deletions autosomal dominant 3 C563747|609286||peoa3 C563747|609286||progressive external ophthalmoplegia autosomal dominant 3 612635||microvascular complications of diabetes susceptibility to 7 612635||mvcd7 612635|612634|612628|612624||nephropathy diabetic susceptibility to 612635||nonproliferative retinopathy diabetic susceptibility to 612635|612623|603933||proliferative retinopathy diabetic susceptibility to D002341||carotid artery thrombosis D002341||carotid artery thromboses D002341||carotid thrombosis D002341||common carotid artery thrombosis D002341||external carotid artery thrombosis D002341||internal carotid artery thrombosis D002341||thrombosis carotid D002341||thrombosis carotid artery D002341||thrombosis common carotid artery D002341||thrombosis external carotid artery D002341||thrombosis internal carotid artery 612634||microvascular complications of diabetes susceptibility to 6 612634||mvcd6 D014328||trophoblastic neoplasms D014328||cancers trophoblast D014328||cancers trophoblastic D014328||cancer trophoblast D014328||cancer trophoblastic D014328||neoplasms trophoblast D014328||neoplasms trophoblastic D014328||neoplasm trophoblast D014328||neoplasm trophoblastic D014328||trophoblast cancer D014328||trophoblast cancers D014328||trophoblastic cancer D014328||trophoblastic cancers D014328||trophoblastic neoplasm D014328||trophoblastic tumor D014328||trophoblastic tumors D014328||trophoblast neoplasm D014328||trophoblast neoplasms D014328||trophoblast tumor D014328||trophoblast tumors D014328||tumors trophoblast D014328||tumors trophoblastic D014328||tumor trophoblast D014328||tumor trophoblastic D003327|300464||coronary disease D003327|300464||chds1 D003327|300464||chds2 D003327|300464||chds3 D003327|300464||chds4 D003327|300464||chds5 D003327|300464||chds7 D003327|300464||chds8 D003327|300464||chds9 D003327|300464||coronary artery disease early onset D003327|300464||coronary diseases D003327|300464||coronary heart disease D003327|300464||coronary heart diseases D003327|300464||coronary heart disease susceptibility to 1 D003327|300464||coronary heart disease susceptibility to 2 D003327|300464||coronary heart disease susceptibility to 3 D003327|300464||coronary heart disease susceptibility to 4 D003327|300464||coronary heart disease susceptibility to 5 D003327|300464||coronary heart disease susceptibility to 7 D003327|300464||coronary heart disease susceptibility to 8 D003327|300464||coronary heart disease susceptibility to 9 D003327|300464||disease coronary D003327|300464||disease coronary heart D003327|300464||diseases coronary D003327|300464||diseases coronary heart D003327|300464||heart disease coronary D003327|300464||heart diseases coronary C537060|228960||flaujeac factor deficiency C537060|228960||fitzgerald trait C537060|228960||fitzgerald trait kininogen deficiency total included C537060|228960||flaujeac trait included C537060|228960||high molecular weight kininogen deficiency C537060|228960||hmwk deficiency C537060|228960||kininogen deficiency high molecular weight C537060|228960||kininogen deficiency high molecular weight and low molecular weight included C537060|228960||kininogen deficiency total C537060|228960||williams trait included D003680||deglutition disorders D003680||deglutition disorder D003680||disorders deglutition D003680||dysphagia D003680||dysphagia esophageal D003680||dysphagia oropharyngeal D003680||esophageal dysphagia D003680||oropharyngeal dysphagia D003680||swallowing disorder D003680||swallowing disorders 613969||myopia 19 autosomal dominant 613969||myp19 C566136|118300||charcot marie tooth disease demyelinating type 1e C566136|118300||charcot marie tooth neuropathy and deafness autosomal dominant C566136|118300||cmt1e C538258|301040||atr x syndrome C538258|301040||alpha thalassemia mental retardation syndrome nondeletion type C538258|301040||alpha thalassemia mental retardation syndrome non deletion type x linked C538258|301040||alpha thalassemia mental retardation syndrome nondeletion type x linked C538258|301040||alpha thalassemia mental retardation syndrome x linked C538258|301040||alpha thalassemia mental retardation x linked C538258|301040||alpha thalassemia x linked intellectual disability syndrome C538258|301040||alpha thalassemia x linked mental retardation syndrome C538258|301040||atr non deletion type C538258|301040||atr nondeletion type C538258|301040||atrx C538258|301040||atrx syndrome C538258|301040||x linked alpha thalassemia mental retardation syndrome C538258|301040||xlmr hypotonic face syndrome C537547||microcephaly corpus callosum dysgenesis and cleft lip palate C537547||microcephaly facial clefting and preaxial polydactyly C536216||crome syndrome C537548||galloway mowat syndrome C537548||galloway syndrome C537548||microcephaly hiatal hernia and nephrotic syndrome C537548||microcephaly hiatus hernia and nephrotic syndrome C537548||microcephaly nephrosis syndrome C537548||nephrosis microcephaly syndrome C537548||nephrosis neuronal dysmigration syndrome C536217||crumpled helices and small mouth C536217||sparse hair prominent nose small mouth micrognathia cleft palate crumpled upper helices digit anomaly and mild developmental delay D015651||mycotoxicosis D015651||fungus poisoning D015651||fungus poisonings D015651||mycotoxicoses D015651||poisoning fungus D015651||poisonings fungus C537545||microcephaly sparse hair mental retardation seizures C537546||microcephaly with spastic quadriplegia C537546||recessive microcephaly with spastic quadriplegia C536215||pediatric crohn apos s disease C536215||crohn apos s disease pediatric C536215||pediatric onset crohn apos s disease C537549||lambotte syndrome C537549||microcephaly holoprosencephaly and intrauterine growth retardation C536218||cryofibrinogenemia D014323||trombiculiasis D014323||trombiculiases C536219||cryptomicrotia brachydactyly syndrome C536219||cryptomicrotia brachydactyly syndrome excess fingertip arch C536219||tonoki ohura niikawa syndrome C537561||jaffer beighton syndrome C537561||arachnodactyly joint laxity and spondylolisthesis C536230||cystic medial necrosis of aorta C536230||erdheim cystic medial necrosis of aorta C537562||jamaican vomiting sickness C537562||ackee poisoning D001028||aortopulmonary septal defect D001028||aorticopulmonary septal defect D001028||aorticopulmonary septal defects D001028||aortopulmonary septal defects D001028||septal defect aorticopulmonary D001028||septal defect aortopulmonary D001028||septal defects aorticopulmonary D001028||septal defects aortopulmonary C537565|277300||jarcho levin syndrome C537565|277300||costovertebral dysplasia C537565||spondylocostal dysostosis C537565|277300||spondylocostal dysostosis 1 autosomal recessive C537565||spondylocostal dysplasia recessive form C537565|277300||spondylothoracic dysostosis C537565|277300||spondylothoracic dysplasia 608367|D009216||myopia 608367|D009216||myopia 17 autosomal dominant 608367|D009216||myopia 4 formerly 608367|D009216||myopias 608367|D009216||myp17 608367|D009216||myp4 formerly 608367|D009216||nearsightedness 608367|D009216||nearsightednesses C536234||blepharophimosis syndrome type 2 C536234||blepharophimosis ptosis and epicanthus inversus type 2 C536234||blepharophimosis ptosis and epicanthus inversus without premature ovarian failure C563852||leukoencephalopathy arthritis colitis and hypogammaglobulinema C536235||blepharophimosis with ptosis syndactyly and short stature C537563||jankovic rivera syndrome C537563||hereditary myoclonus and progressive distal muscular atrophy C537563||myoclonus hereditary with progressive distal muscular atrophy C536232||blepharophimosis syndrome ohdo type C536232||mental retardation congenital heart disease blepharophimosis blepharoptosis and hypoplastic teeth C536232||ohdo blepharophimosis syndrome C536232||ohdo madokoro sonoda syndrome C536233||blepharophimosis syndrome type 1 C536233||blepharophimosis ptosis epicanthus inversus type 1 C536233||blepharophimosis ptosis epicanthus inversus with ovarian failure D001022||aortic valve insufficiency D001022||aortic incompetence D001022||aortic regurgitation D001022||aortic valve incompetence D001022||incompetence aortic D001022||incompetence aortic valve D001022||insufficiency aortic valve D001022||regurgitation aortic D001022||regurgitation aortic valve D001020||aortic stenosis subvalvular D001020||aortic stenoses subvalvular D001020||aortic subvalvular stenoses D001020||aortic subvalvular stenosis D001020||stenoses aortic subvalvular D001020||stenoses subvalvular aortic D001020||stenosis aortic subvalvular D001020||stenosis subvalvular aortic D001020||subvalvular aortic stenoses D001020||subvalvular aortic stenosis D001020||subvalvular stenoses aortic D001020||subvalvular stenosis aortic 612628||microvascular complications of diabetes susceptibility to 4 612628||mvcd4 C562524||fibrochondrogenesis D002357||cartilage diseases D002357||cartilage disease D002357||chondromalacia D002357||chondromalacias D003681||dehydration D003681||stress water D003681||water stress D001025||aortitis D001025||aortitides D001024||aortic valve stenosis D001024||aortic stenosis D001024||aortic valve stenoses D001024||stenoses aortic D001024||stenoses aortic valve D001024||stenosis aortic D001024||stenosis aortic valve D001024||valve stenoses aortic D001024||valve stenosis aortic 612624||microvascular complications of diabetes susceptibility to 3 612624|612623||end stage renal disease diabetic susceptibility to 612624||mvcd3 184500|D062685||steatocystoma multiplex 184500|D062685||cyst multiple sebaceous 184500|D062685||cysts multiple sebaceous 184500|D062685||multiple sebaceous cyst 184500|D062685||multiple sebaceous cysts 184500|D062685||multiplex steatocystoma 184500|D062685||multiplex steatocystomas 184500|D062685||sebaceous cyst multiple 184500|D062685||sebaceous cysts multiple 184500|D062685||steatocystoma multiplices 184500|D062685||steatocystomas multiplex D001023||aortic valve prolapse D001023||aortic valve prolapses D001023||prolapse aortic valve D001023||prolapses aortic valve D001023||valve prolapse aortic D001023||valve prolapses aortic 612623||microvascular complications of diabetes susceptibility to 2 612623||mvcd2 612633||microvascular complications of diabetes susceptibility to 5 612633||mvcd5 612633||retinopathy diabetic susceptibility to 611302||spastic ataxia 2 autosomal recessive 611302||spax2 D014339||truncus arteriosus persistent D014339||persistent truncus arteriosus C536011|200400||achalasia familial esophageal C536011|200400||familial esophageal achalasia C537558||osteogenesis imperfecta congenita microcephaly and cataracts D015663||bone losses perimenopausal D015663||bone losses postmenopausal D015663||bone loss perimenopausal D015663||bone loss postmenopausal D015663||osteoporoses postmenopausal D015663||osteoporoses post menopausal D015663||osteoporosis post menopausal D015663||perimenopausal bone loss D015663||perimenopausal bone losses D015663||postmenopausal bone loss D015663||postmenopausal bone losses D015663||postmenopausal osteoporoses D015663||post menopausal osteoporoses D015663||postmenopausal osteoporosis D015663||post menopausal osteoporosis D013001||somatoform disorders D013001||briquet syndrome D013001||pain disorder D013001||somatization disorder D013001||somatization disorders D013001||somatoform disorder D013001||syndrome briquet C536228||familial cyclic vomiting syndrome C536228||cyclical vomiting C536228||cyclical vomiting syndrome C536228||cyclic vomiting syndrome C536228||periodic vomiting C537556||micromelic dwarfism fryns type C537556||dwarfism micromelic with cone epiphyses metaphyseal dysplasia and vertebral segmentation defects C537556||micromelic dwarfism with cone epiphyses metaphyseal dysplasia and vertebral segmentation defects C537556||spondyloepimetaphyseal dysplasia micromelic C536225||cutis laxa recessive C536225||cutis laxa type 1 C537557||micromelic dysplasia dislocation of radius C536226||cutis marmorata telangiectatica congenita C536226||hereditary cutis marmorata telangiectatica congenita 600652||deafness autosomal dominant 4a 600652|C563460||deafness autosomal dominant 4 600652||dfna4 600652||dfna4a D013005||somatostatinoma D013005||somatostatinomas D053821||cardiovascular infections D053821||cardiovascular infection D053821||infection cardiovascular D053821||infections cardiovascular C536229||cyprus facial neuromusculoskeletal syndrome C537572||jeune syndrome situs inversus C536241||bobble head doll syndrome C537573||methylmalonyl coenzyme a mutase deficiency C536242||brachymorphism onychodysplasia dysphalangism syndrome D053836||dna degradation necrotic D053836||necrotic dna degradation C536240||blue rubber bleb nevus syndrome C536240||bean syndrome C536240||blue rubber bleb nevus C537576||michels caskey syndrome C537576||mullerian aplasia with hypoplastic thumbs C536245||nondystrophic myotonia C536246||noninsulin dependent diabetes mellitus with deafness C536246||ballinger wallace syndrome C536246||diabetes and deafness maternally inherited C536246||diabetes deafness syndrome maternally transmitted C536246||diabetes mellitus type 2 with deafness C536246||diabetes mellitus type ii with deafness C536246||maternally inherited diabetes and deafness C536246||maternally transmitted diabetes deafness syndrome C536246||mitochondrial inherited diabetes and deafness C536246||niddm with deafness D050197|108725||atherosclerosis D050197|108725||alp D050197|108725||atherogenesis D050197|108725||atherogenic lipoprotein phenotype D050197|108725||atheroscleroses D050197|108725||atherosclerosis susceptibility D050197|108725||aths C537574||meyenburg altherr uehlinger syndrome C537574||ashkenazi syndrome C537574||atrophic polychondritis cartilagenous arthritic deafness syndrome C537574||jaksch apos syndrome C537574||jaksch wartenhorst apos s syndrome C537574||von jaksch wartenhorst apos s syndrome C536243||non lissencephalic cortical dysplasia C537575||michelin tire baby syndrome C537575||kunze riehm syndrome C537575||skin creases multiple benign ring shaped of limbs C563822|608971||severe combined immunodeficiency autosomal recessive t cell negative b cell positive nk cell positive C563822|608971||scid autosomal recessive t cell negative b cell positive nk cell positive C563821|C538162|608978||meacham syndrome D003655||decerebrate state D003655||decerebrate posturing D003655||decerebrate posturings D003655||decerebrate rigidity D003655||decerebrate states D003655||decorticate rigidities D003655||decorticate rigidity D003655||decorticate state D003655||decorticate states D003655||posturing decerebrate D003655||posturings decerebrate D003655||rigidities decorticate D003655||rigidity decerebrate D003655||rigidity decorticate D003655||state decerebrate D003655||states decerebrate C563825||spondylometaphyseal dysplasia with cone rod dystrophy C563825||smdcrd C563829||myasthenic syndrome congenital with facial dysmorphism associated with acetylcholine receptor deficiency C537407|609220||bruck syndrome 2 C537407|609220||brks2 184700|D011085||polycystic ovary syndrome 184700|D011085||hyperandrogenemia 184700|D011085||ovarian degeneration sclerocystic 184700|D011085||ovarian syndrome polycystic 184700|D011085||ovary sclerocystic 184700|D011085||ovary syndrome polycystic 184700|D011085||pco 184700|D011085||pco1 184700|D011085||pcos 184700|D011085||pcos1 184700|D011085||polycystic ovarian syndrome 184700|D011085||polycystic ovary syndrome 1 184700|D011085||sclerocystic ovarian degeneration 184700|D011085||sclerocystic ovaries 184700|D011085||sclerocystic ovary 184700|D011085||sclerocystic ovary syndrome 184700|D011085||stein leventhal syndrome 184700|D011085||syndrome polycystic ovary 184700|D011085||syndrome stein leventhal C537569||jequier kozlowski skeletal dysplasia C537569||cloverleaf skull and bone dysplasias C537569||facies unusual arthrogryposis advanced skeletal maturation C537569||round face short small nose advanced bone age enlarged diaphysis C536239||blue diaper syndrome C536239||hypercalcemia familial with nephrocalcinosis and indicanuria C537567||jejunal atresia with renal adysplasia C536236||blepharoptosis myopia ectopia lentis C536236||blepharoptosis myopia and ectopia lentis C536236||dominantly inherited blepharoptosis high myopia and ectopia lentis C536237||blount disease C536237||osteochondrosis deformans tibiae C536237||osteochondrosis deformans tibiae familial infantile type C536237||tibia vara C536252||pyle disease C536252||edwin pyle disease C536252||metaphyseal dysplasia C536252||metaphyseal dysplasia with little involvement of the cranial bones C537584||seow najjar syndrome C537584||enamel hypoplasia capsular cataracts and ductal stenosis D001006||anus imperforate D001006||anal atresia D001006||anal atresias D001006||atresia anal D001006||atresias anal D001006||imperforate anus D052516||sulfatidosis D052516||sulfatidoses D001005||anus neoplasms D001005||anal cancer D001005||anal cancers D001005||anal neoplasm D001005||anal neoplasms D001005||anus cancer D001005||anus cancers D001005||anus neoplasm D001005||cancer anal D001005||cancer of anus D001005||cancer of the anus D001005||cancers anal D001005||neoplasm anal D001005||neoplasm anus D001005||neoplasms anal D001005||neoplasms anus C537582||sennetsu fever C537582||human ehrlichial infection sennetsu type C536251||pyknoachondrogenesis C563831||myasthenic syndrome congenital ie C563830||myasthenic syndrome congenital associated with facial dysmorphism D003668||pressure ulcer D003668||bedsore D003668||bed sore D003668||bedsores D003668||bed sores D003668||decubitus ulcer D003668||decubitus ulcers D003668||pressure sore D003668||pressure sores D003668||pressure ulcers D003668||sore bed D003668||sore pressure D003668||sores bed D003668||sores pressure D003668||ulcer decubitus D003668||ulcer pressure D003668||ulcers decubitus D003668||ulcers pressure C537588||androblastoma of ovary C537588||sertoli leydig cell tumor of the ovary C537585||seres santamaria arimany muniz syndrome C537585||cleft palate ankyloblepharon alveolar synechiae and ectodermal defects C537586||serpentine fibula polycystic kidney syndrome C537586||serpentine fibula syndrome C536255|D015324|266150||leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency C536255|D015324|266150||leigh syndrome due to pyruvate carboxylase deficiency C536781|601705||t cell immunodeficiency congenital alopecia and nail dystrophy C536781|601705||congenital alopecia and nail dystrophy associated with severe functional t cell immunodeficiency C536781|601705||pignata guarino syndrome D003665||decompression sickness D003665||bends D003665||caisson disease D003665||caisson diseases D003665||disease caisson D003665||diseases caisson D003665||sickness decompression D001004||anus diseases D001004||anus disease D001004||disease anus D001004||diseases anus D001002||anuria D001002||anurias C536249||purpura simplex C536249||hereditary familial purpura simplex 605067|D018785||tricuspid atresia 605067|D018785||absent right atrioventricular connection 605067|D018785||atresias tricuspid 605067|D018785||atresias tricuspid valve 605067|D018785||atresia tricuspid 605067|D018785||atresia tricuspid valve 605067|D018785||tricuspid atresias 605067|D018785||tricuspid valve atresia 605067|D018785||tricuspid valve atresias 605067|D018785||valve atresias tricuspid 605067|D018785||valve atresia tricuspid C536247||nonkeratan sulfate excreting morquio syndrome C536247||morquio syndrome c C536247||morquio syndrome nonkeratan sulfate excreting type C536247||morquio syndrome nonkeratosulfate excreting type C537579||sener syndrome C537579||frontonasal dysplasia and dilated virchow robin spaces D014314||trisomy D014314||chromosomal triplication D014314||chromosomal triplications D014314||partial trisomies D014314||partial trisomy D014314||trisomies D014314||trisomies partial D014314||trisomy partial 600630||uv sensitive syndrome 1 600630||uvss1 D014313||trismus D014313||lockjaw D014313||lock jaw D014313||masseter muscle spasm D014313||masseter muscle spasms D014313||masseter spasm D014313||masseter spasms D014313||muscle spasm masseter D014313||muscle spasms masseter D014313||spasm masseter D014313||spasm masseter muscle D014313||spasms masseter D014313||spasms masseter muscle D053842||microsatellite instability D053842||error phenotype replication D053842||error phenotypes replication D053842||instability microsatellite D053842||phenotype replication error D053842||phenotypes replication error D053842||replication error phenotype D053842||replication error phenotypes D003638||deafness D003638||acquired deafness D003638||bilateral deafness D003638||complete hearing loss D003638||deaf mutism D003638||deafness acquired D003638||deafness bilateral D003638||deafness prelingual D003638||extreme hearing loss D003638||hearing loss complete D003638||hearing loss extreme D003638||prelingual deafness D003639||hearing loss sudden D003639||deafness sudden D003639||sudden deafness D003639||sudden hearing loss C537510||kozlowski tsuruta taki syndrome C537510||achondrogenesis kozlowski type C537510||chondrodysplasia lethal neonatal D002303||cardiac output low D002303||low cardiac output D002303||low cardiac output syndrome D002303||output low cardiac C566079||cd4 lymphocyte deficiency C537511||piussan lenaerts mathieu syndrome C537511||thumb ankylosis with mental retardation D002305||cardiac tamponade D002305||cardiac tamponades D002305||pericardial tamponade D002305||pericardial tamponades D002305||tamponade cardiac D002305||tamponade pericardial D002305||tamponades cardiac D002305||tamponades pericardial C563806||skeletal dysplasia rhizomelic with retinitis pigmentosa D027601||polyomavirus infections D027601||polyomavirus infection C563805||nephrotic syndrome congenital with or without ocular abnormalities 613930||alopecia mental retardation syndrome 3 613930||apmr3 C563803||spondylometaphyseal dysplasia type a4 C579395||ruvalcaba syndrome D015616||histiocytosis non langerhans cell D015616||disseminatum xanthoma D015616||non langerhans cell histiocytosis D015616||reticulohistiocytoma D015616||reticulohistiocytomas D015616||xanthoma disseminatum D015615||cystic adenomatoid malformation of lung congenital D015615||congenital cystic adenomatoid malformation D015615||congenital cystic adenomatoid malformation of lung D015615||congenital cystic adenomatoid malformation type 1 D015615||congenital cystic adenomatoid malformation type 2 D015615||congenital cystic adenomatoid malformation type 3 D015615||congenital cystic adenomatoid malformation type i D015615||congenital cystic adenomatoid malformation type ii D015615||congenital cystic adenomatoid malformation type iii D015615||cystic adenomatoid malformation of lung D015615||lung malformation congenital cystic adenomatoid D015615||lung malformation cystic adenomatoid congenital C537509||kozlowski rafinski klicharska syndrome C537509||metaphyseal and epiphyseal dysplasia with unusual facies and cataract C566080||t cell okt4 deficiency D015614||histiocytosis D015614||histiocytoses D015619||respiratory system abnormalities D015619||abnormalities respiratory system D015619||abnormality respiratory system D015619||respiratory system abnormality D015619||system abnormalities respiratory D015619||system abnormality respiratory D015618||histiocytosis sinus D015618||destombes rosai dorfman syndrome D015618||disease rosai dorfman D015618||histiocytoses sinus D015618||rosai dorfman disease D015618||sinus histiocytoses D015618||sinus histiocytosis D015618||sinus histiocytosis with massive lymphadenopathy D015618||syndrome destombes rosai dorfman C537503||subcutaneous panniculitis like t cell lymphoma C537504||kousseff nichols syndrome C537504||noonan like contracture myopathy hyperpyrexia C566087||synovial chondromatosis familial with dwarfism C566089||synostosis of talus and calcaneus with short stature C566082||immunodeficiency due to defect in cd3 epsilon C537508||kozlowski ouvrier syndrome C537508||agenesis of the corpus callosum with mental retardation and osseous lesions C566083||immunodeficiency due to defect in cd3 gamma C566084||syringomyelia isolated C537506||kozlowski brown hardwick syndrome C566085||syringomas multiple D003649||decalcification pathologic D003649||decalcification pathological D003649||pathological decalcification D003649||pathologic decalcification D002318||cardiovascular diseases D002318||cardiovascular disease D002318||disease cardiovascular D002318||diseases cardiovascular D003645||death sudden D003645||sudden death C563813||peripheral cone dystrophy D002310||cardiomyopathy alcoholic D002310||alcoholic cardiomyopathy D003643||death D003643||cardiac death D003643||death cardiac D003643||determination of death D003643||near death experience D002312||cardiomyopathy hypertrophic D002312||asymmetric septal hypertrophies D002312||cardiomyopathies hypertrophic D002312||cardiomyopathies hypertrophic obstructive D002312||cardiomyopathies hypertrophic obstructive hocm D002312||cardiomyopathies idiopathic hypertrophic D002312||cardiomyopathy hypertrophic obstructive D002312||cardiomyopathy hypertrophic obstructive hocm D002312||cardiomyopathy idiopathic hypertrophic D002312||hypertrophic cardiomyopathies D002312||hypertrophic cardiomyopathies idiopathic D002312||hypertrophic cardiomyopathy D002312||hypertrophic cardiomyopathy idiopathic D002312||hypertrophic obstructive cardiomyopathies D002312||hypertrophic obstructive cardiomyopathies hocm D002312||hypertrophic obstructive cardiomyopathy D002312||hypertrophic obstructive cardiomyopathy hocm D002312||hypertrophies asymmetric septal D002312||hypertrophy asymmetric septal D002312||idiopathic hypertrophic cardiomyopathies D002312||idiopathic hypertrophic cardiomyopathy D002312||idiopathic hypertrophic subaortic stenosis D002312||idiopathic hypertrophic subaortic stenosis ihss D002312||idiopathic hypertrophic subvalvular stenosis D002312||ihss D002312||ihsss D002312||obstructive cardiomyopathies hypertrophic D002312||obstructive cardiomyopathy hypertrophic D002312||septal hypertrophies asymmetric D002312||septal hypertrophy asymmetric D002312||subvalvular stenosis idiopathic hypertrophic C563810||mental retardation with optic atrophy facial dysmorphism microcephaly and short stature D002313||cardiomyopathy restrictive D002313||cardiomyopathies restrictive D002313||familial restrictive cardiomyopathy D002313||restrictive cardiomyopathies D002313||restrictive cardiomyopathy D041881||cholecystitis acute D041881||acute cholecystitis 203700||mitochondrial dna depletion syndrome 4a alpers type 203700|D002549||alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis 203700|D002549||alpers huttenlocher syndrome 203700|D002549||alpers progressive infantile poliodystrophy 203700|D002549||alpers syndrome 203700||mtdps4a 203700|D002549||neuronal degeneration of childhood with liver disease progressive 203700||pndc D041882||emphysematous cholecystitis D041882||cholecystitis emphysematous 314050|C564050||thrombocytopenia platelet dysfunction hemolysis and imbalanced globin synthesis 314050|C564050||thrombocytopenia with beta thalassemia x linked 314050|C564050||xltt C563815||deafness autosomal recessive 36 C563815|609006||dfnb36 C563814||marfanoid habitus with situs inversus C567716|613177||cutis laxa with severe pulmonary gastrointestinal and urinary abnormalities C567716|613177||arcl1c C567716|613177||cutis laxa autosomal recessive type ic C567716|613177||urban rifkin davis syndrome C567716|613177||urds C566090||synostosis carpal with dysplastic elbow joints and brachydactyly C566090||brachydactyly with joint dysplasia C566090||liebenberg syndrome C563819|115700||cataract congenital cerulean type 3 C563819||cataract congenital blue dot type 3 C566091||syndactyly polydactyly earlobe syndrome C563818||ataxia sensory autosomal dominant D015624||lambert eaton myasthenic syndrome D015624||eaton lambert myasthenic myopathic syndrome D015624||eaton lambert myasthenic syndrome D015624||eaton lambert myopathic myasthenic syndrome D015624||eaton lambert myopathic myasthenic syndromes D015624||eaton lambert syndrome D015624||lambert eaton myasthenic myopathic syndrome D015624||lambert eaton myasthenic myopathic syndromes D015624||lambert eaton myopathic myasthenic syndrome D015624||lambert eaton myopathic myasthenic syndromes D015624||lambert eaton syndrome D015624||myasthenic myopathic syndrome of eaton lambert D015624||myasthenic myopathic syndrome of lambert eaton D015624||myasthenic syndrome eaton lambert D015624||myasthenic syndrome lambert eaton D015624||myopathic myasthenic syndrome of eaton lambert D015624||myopathic myasthenic syndrome of lambert eaton D015624||syndrome eaton lambert D015624||syndrome eaton lambert myasthenic D015624||syndrome lambert eaton D015624||syndrome lambert eaton myasthenic 613916||deafness autosomal recessive 89 613916||dfnb89 C580387||ppm x syndrome C580388||prickle1 related progressive myoclonus epilepsy with ataxia C580388||pme with ataxia C580388||prickle1 related progressive myoclonic epilepsy with ataxia C580388||progressive myoclonic epilepsy 1b C580388||progressive myoclonus epilepsy with ataxia C537514||plasmacytoma anaplastic C537514||anaplastic skeletal plasmacytoma type C537514||anaplastic solitary extramedullary plasmacytoma of the cecum type C537514||extramedullary anaplastic plasmacytoma type C566098||symphalangism with multiple anomalies of hands and feet C537512||plagiocephaly and x linked mental retardation C537512||hyde forster mccarthy berry syndrome C537512||mental retardation plagiocephaly brachycephaly prominent forehead and coarse facial features C537512||mental retardation x linked hyde forster type C537512||mental retardation x linked with craniofacial dysmorphism C580383||pontocerebellar hypoplasia C580383||congenital pontocerebellar hypoplasia C566099||symphalangism distal C537518||podder tolmie syndrome C537518||meningoencephalocele arthrogryposis and hypoplastic thumbs C537519||schwartz lelek syndrome C537519||craniometaphyseal dysplasia C537519||genetic craniotubular bone dysplasias and hyperostoses C566095||synpolydactyly with foot anomalies C566822|168605||perry syndrome C566822|168605||parkinsonism with alveolar hypoventilation and mental depression C537517||plexosarcoma C537517||gastrointestinal autonomic nerve tumor D015620||histiocytic disorders malignant D015620||disorder malignant histiocytic D015620||disorders malignant histiocytic D015620||histiocytic disorder malignant D015620||malignant histiocytic disorder D015620||malignant histiocytic disorders D020199||hematoma subdural acute D020199||acute subdural hematoma D020199||acute subdural hematomas D020199||hematoma acute subdural D020199||hematomas acute subdural D020199||hemorrhage subdural acute D020199||subdural hematoma acute D020199||subdural hematomas acute D004948||esotropia D004948||convergent strabismus D004948||cross eye D004948||cross eyes D004948||esodeviation D004948||esodeviations D004948||esophoria D004948||esophorias D004948||esotropia intermittent D004948||esotropia monocular D004948||esotropia primary D004948||esotropias D004948||esotropia secondary D004948||esotropias intermittent D004948||esotropias monocular D004948||esotropias primary D004948||esotropias secondary D004948||intermittent esotropia D004948||intermittent esotropias D004948||internal strabismus D004948||monocular esotropia D004948||monocular esotropias D004948||primary esotropia D004948||primary esotropias D004948||secondary esotropia D004948||secondary esotropias D004948||strabismus convergent D004948||strabismus internal D020198||intracranial hemorrhage traumatic D020198||hematomas traumatic intracranial D020198||hematoma traumatic intracranial D020198||hemorrhage intracranial traumatic D020198||hemorrhages traumatic intracranial D020198||hemorrhage traumatic intracranial D020198||intracranial hematomas traumatic D020198||intracranial hematoma traumatic D020198||intracranial hemorrhages traumatic D020198||traumatic intracranial hematoma D020198||traumatic intracranial hematomas D020198||traumatic intracranial hemorrhage D020198||traumatic intracranial hemorrhages 247100|D008065||lipoid proteinosis of urbach and wiethe 247100|D008065||hyalinosis cutis et mucosae 247100|D008065||lipoidproteinosis 247100|D008065||lipoid proteinosis 247100|D008065||lipoid proteinosis urbach wiethe 247100|D008065||lipoproteinosis 247100|D008065||urbach wiethe disease 247100|D008065||urbach wiethe lipoid proteinosis 247100|D008065||urbach wiethe syndrome D015658|609423||hiv infections D015658|609423||acquired immunodeficiency syndrome progression to included D015658|609423||aids progression to included D015658|609423||hiv 1 resistance to included D015658|609423||hiv 1 susceptibility to human immunodeficiency virus type 1 resistance to included D015658|609423||hiv infection D015658|609423||htlv iii infection D015658|609423||htlv iii infections D015658|609423||htlv iii lav infection D015658|609423||htlv iii lav infections D015658|609423||human immunodeficiency virus type 1 susceptibility to D015658|609423||infection hiv D015658|609423||infection htlv iii D015658|609423||infection htlv iii lav D015658|609423||infections hiv D015658|609423||infections htlv iii D015658|609423||infections htlv iii lav D015658|609423||t lymphotropic virus type iii infections human D020197||head injuries penetrating D020197||brain injuries penetrating D020197||brain injury penetrating D020197||cranial trauma penetrating D020197||cranial traumas penetrating D020197||craniocerebral trauma penetrating D020197||craniocerebral traumas penetrating D020197||head injuries penetrating missile D020197||head injury penetrating D020197||head trauma penetrating D020197||head traumas penetrating D020197||injuries penetrating head D020197||injury penetrating head D020197||missile injuries penetrating head D020197||penetrating brain injuries D020197||penetrating brain injury D020197||penetrating cranial trauma D020197||penetrating cranial traumas D020197||penetrating craniocerebral trauma D020197||penetrating craniocerebral traumas D020197||penetrating head injuries D020197||penetrating head injury D020197||penetrating head trauma D020197||penetrating head traumas D020197||penetrating missile injuries head D020197||trauma penetrating cranial D020197||trauma penetrating craniocerebral D020197||trauma penetrating head D020197||traumas penetrating cranial D020197||traumas penetrating craniocerebral D020197||traumas penetrating head C567771|613073||metaphyseal anadysplasia 2 C567771|613073||mandp2 C564276|608189||tropical calcific pancreatitis C564276|608189||tcp D020196||trauma nervous system D020196||craniocervical injuries D020196||craniocervical injury D020196||injuries craniocervical D020196||injuries nervous system D020196||injury craniocervical D020196||injury nervous system D020196||nervous system injuries D020196||nervous system injury D020196||nervous system trauma D020196||nervous system traumas D020195||epilepsy reflex D020195||audiogenic epilepsies D020195||audiogenic epilepsy D020195||audiogenic reflex epilepsies D020195||audiogenic reflex epilepsy D020195||cursive epilepsy D020195||cursive reflex epilepsies running D020195||cursive reflex epilepsy running D020195||decision making reflex epilepsy D020195||eating induced epilepsies D020195||eating induced epilepsy D020195||eating induced reflex epilepsies D020195||eating induced reflex epilepsy D020195||epilepsies audiogenic reflex D020195||epilepsies cursive D020195||epilepsies eating induced D020195||epilepsies eating induced reflex D020195||epilepsies immersion related D020195||epilepsies musicogenic D020195||epilepsies musicogenic reflex D020195||epilepsies photosensitive D020195||epilepsies photosensitive reflex D020195||epilepsies reading D020195||epilepsies reading reflex D020195||epilepsies reflex D020195||epilepsies tactile reflex D020195||epilepsies writing induced reflex D020195||epilepsy audiogenic D020195||epilepsy audiogenic reflex D020195||epilepsy cursive D020195||epilepsy cursive reflex running D020195||epilepsy eating induced D020195||epilepsy eating induced reflex D020195||epilepsy immersion related D020195||epilepsy musicogenic D020195||epilepsy musicogenic reflex D020195||epilepsy photosensitive D020195||epilepsy photosensitive reflex D020195||epilepsy reading D020195||epilepsy reading reflex D020195||epilepsy tactile reflex D020195||epilepsy writing induced reflex D020195||immersion related epilepsies D020195||immersion related epilepsy D020195||musicogenic epilepsies D020195||musicogenic epilepsy D020195||musicogenic reflex epilepsies D020195||musicogenic reflex epilepsy D020195||photosensitive epilepsies D020195||photosensitive epilepsy D020195||photosensitive reflex epilepsies D020195||photosensitive reflex epilepsy D020195||reading epilepsies D020195||reading epilepsy D020195||reading reflex epilepsies D020195||reading reflex epilepsy D020195||reflex epilepsies D020195||reflex epilepsies audiogenic D020195||reflex epilepsies cursive running D020195||reflex epilepsies eating induced D020195||reflex epilepsies musicogenic D020195||reflex epilepsies photosensitive D020195||reflex epilepsies reading D020195||reflex epilepsies tactile D020195||reflex epilepsies writing induced D020195||reflex epilepsy D020195||reflex epilepsy audiogenic D020195||reflex epilepsy cursive running D020195||reflex epilepsy eating induced D020195||reflex epilepsy musicogenic D020195||reflex epilepsy photosensitive D020195||reflex epilepsy reading D020195||reflex epilepsy tactile D020195||reflex epilepsy visual pattern D020195||reflex epilepsy writing induced D020195||tactile reflex epilepsies D020195||tactile reflex epilepsy D020195||visual pattern reflex epilepsy D020195||writing induced reflex epilepsies D020195||writing induced reflex epilepsy C537532||seckel like syndrome type buebel C566057||thrombophilia due to thrombomodulin defect C536202||elastosis perforans serpiginosa C536202||elastoma intrapapillare perforans verruciformis C536202||miescher elastoma C537530||sebaceous gland hyperplasia familial presenile D004940||esophageal stenosis D004940||esophageal stenoses D004940||esophageal stricture D004940||stenoses esophageal D004940||stenosis esophageal D004940||stricture esophageal D004942||esophagitis peptic D004942||esophagitides peptic D004942||esophagitides reflux D004942||esophagitis reflux D004942||peptic esophagitides D004942||peptic esophagitis D004942||reflux esophagitides D004942||reflux esophagitis D004941||esophagitis D004941||esophagitides C562592|278760||xeroderma pigmentosum complementation group f C562592|278760||xeroderma pigmentosum vi C562592|278760||xeroderma pigmentosum vi xp6 xeroderma pigmentosum type f cockayne syndrome included C562592|278760||xp6 C562592|278760||xpf C562592|278760||xpf cs included C562592|278760||xp group f C567938|107100||anorectal anomalies D063205||pneumorrhachis D063205||epidural pneumorrhachi D063205||epidural pneumorrhachis D063205||pneumorrhachi D063205||pneumorrhachi epidural D063205||pneumorrhachis epidural D063205||pneumorrhachis subarachnoid D063205||pneumorrhachi subarachnoid D063205||subarachnoid pneumorrhachi D063205||subarachnoid pneumorrhachis C580359||palmoplantar keratoderma with deafness C580359||palmoplantar hyperkeratosis deafness syndrome C580359||palmoplantar hyperkeratosis hearing loss syndrome C580359||palmoplantar keratoderma deafness syndrome C580359||palmoplantar keratoderma hearing loss syndrome C580359||ppk deafness syndrome C580359||ppk with deafness 141750|C563050||alpha thalassemia mental retardation syndrome deletion type 141750|C563050||alpha thalassemia mental retardation syndrome chromosome 16 related 141750|C563050||atr 16 syndrome 141750|C563050||atr deletion type 141750|C563050||chromosome 16p deletion syndrome 141750|C563050||hbhr 141750|C563050||hemoglobin h related mental retardation 141750|C563050||mental retardation with hemoglobin h C566065||thalassemia beta silent allele D016920||meningitis bacterial D016920||bacterial meningitides D016920||bacterial meningitis D016920||meningitides bacterial C567398||lymphedema cardiac septal defects and characteristic facies C567398||irons bianchi syndrome C567398||lymphedema atrial septal defect and characteristic facies C537523||sclerosing bone dysplasia mental retardation C537523||mixed sclerosing bone dysplasia and mental retardation C566066||tetramelic monodactyly D016921||meningitis fungal D016921||fungal meningitides D016921||fungal meningitis D016921||fungal pachymeningitides D016921||fungal pachymeningitis D016921||meningitides fungal D016921||pachymeningitides fungal D016921||pachymeningitis fungal C537524||sclerosing lymphocytic lobulitis C537524||sclerosing lymphocytic lobulitis of the breast C566067||forebrain defects C537529||seaver cassidy syndrome C566060||thrombasthenia thrombocytopenia hereditary C566062||thoracopelvic dysostosis C537528||scott bryant graham syndrome C537528||craniodigital syndrome mental retardation scott type C537528||craniodigital syndrome with mental retardation C537528||scott craniodigital syndrome with mental retardation C566063||thoracic dysostosis isolated D020188||sleep paralysis D020188||paralysis sleep D020187||rem sleep behavior disorder D020187||behavior disorder rapid eye movement sleep D020187||behavior disorder rem D020187||behavior disorders rem D020187||rapid eye movement sleep behavior disorder D020187||rem behavior disorder D020187||rem behavior disorders C537540||microcephaly seizures genital hypoplasia C537540||microcephaly micropenis convulsions C537540||microcephaly micropenis seizures D020186||sleep bruxism D020186||adult sleep bruxism D020186||adult sleep bruxisms D020186||bruxism nocturnal D020186||bruxism sleep D020186||bruxism sleep related D020186||bruxisms nocturnal D020186||bruxisms sleep D020186||bruxisms sleep related D020186||childhood sleep bruxism D020186||childhood sleep bruxisms D020186||nocturnal bruxism D020186||nocturnal bruxisms D020186||nocturnal teeth grinding disorder D020186||sleep bruxism adult D020186||sleep bruxism childhood D020186||sleep bruxisms D020186||sleep bruxisms adult D020186||sleep bruxisms childhood D020186||sleep related bruxism D020186||sleep related bruxisms D020186||teeth grinding disorder nocturnal C535330|214900||aagenaes syndrome C535330|214900||chls C535330|214900||cholestasis lymphedema syndrome C535330|214900||lcs C535330|214900||lcs1 C535330|214900||lymphedema cholestasis syndrome D020184||night terrors D020184||adult night terror D020184||adult night terrors D020184||adult pavor nocturnus D020184||childhood night terror D020184||childhood night terrors D020184||childhood pavor nocturnus D020184||night terror adult D020184||night terror childhood D020184||night terror primary D020184||night terrors adult D020184||night terrors childhood D020184||night terror secondary D020184||night terrors primary D020184||night terrors secondary D020184||nocturnus adult pavor D020184||nocturnus childhood pavor D020184||pavor nocturnus D020184||pavor nocturnus adult D020184||pavor nocturnus childhood D020184||primary night terror D020184||primary night terrors D020184||secondary night terror D020184||secondary night terrors D020184||sleep terror D020184||sleep terror disorder D020184||sleep terrors D020184||terror adult night D020184||terror childhood night D020184||terror primary night D020184||terrors adult night D020184||terrors childhood night D020184||terror secondary night D020184||terror sleep D020184||terrors primary night D020184||terrors secondary night D020184||terrors sleep C537543||microcephaly pontocerebellar hypoplasia dyskinesia C566068||tendons extensor of fingers anomalous insertion of D020183||nocturnal paroxysmal dystonia D020183||dystonia hypnogenic paroxysmal D020183||dystonia nocturnal paroxysmal D020183||dystonias hypnogenic paroxysmal D020183||dystonia sleep related D020183||dystonias nocturnal paroxysmal D020183||dystonias sleep related D020183||hypnogenic paroxysmal dystonia D020183||hypnogenic paroxysmal dystonias D020183||nocturnal paroxysmal dystonias D020183||paroxysmal dystonia hypnogenic D020183||paroxysmal dystonia nocturnal D020183||paroxysmal dystonias hypnogenic D020183||paroxysmal dystonias nocturnal D020183||sleep related dystonia D020183||sleep related dystonias C537544||microcephaly seizures mental retardation heart disorders C537544||microcephaly seizures mental retardation congenital heart disease and skeletal abnormalities C566069||arthrogryposis distal type 10 C566069||tendo calcaneus short D020182||sleep apnea central D020182||alveolar hypoventilation central D020182||alveolar hypoventilations central D020182||apnea central D020182||apnea central sleep D020182||apneas central D020182||apneas central sleep D020182||apnea sleep central D020182||breathing central sleep disordered D020182||breathings central sleep disordered D020182||central alveolar hypoventilation D020182||central alveolar hypoventilation syndrome D020182||central apnea D020182||central apneas D020182||central sleep apnea D020182||central sleep apnea primary D020182||central sleep apneas D020182||central sleep apnea secondary D020182||central sleep apnea syndrome D020182||central sleep disordered breathing D020182||central sleep disordered breathings D020182||hypoventilation central alveolar D020182||hypoventilations central alveolar D020182||newborn primary sleep apneas D020182||ondine syndrome D020182||primary central sleep apnea D020182||primary sleep apneas of newborn D020182||secondary central sleep apnea D020182||sleep apnea lethal central D020182||sleep apnea newborn primary D020182||sleep apneas central D020182||sleep disordered breathing central D020182||sleep disordered breathings central C537541||microcephaly microphthalmos blindness D020181||sleep apnea obstructive D020181||apnea hypopnea syndrome sleep D020181||apnea hypopnea syndromes sleep D020181||apnea obstructive sleep D020181||apneas obstructive sleep D020181||obstructive sleep apnea D020181||obstructive sleep apneas D020181||obstructive sleep apnea syndrome D020181||osahs D020181||sleep apnea hypopnea syndrome D020181||sleep apnea hypopnea syndromes D020181||sleep apneas obstructive D020181||sleep apnea syndrome obstructive D020181||syndrome obstructive sleep apnea D020181||syndrome sleep apnea hypopnea D020181||syndrome sleep apnea obstructive D020181||syndromes sleep apnea hypopnea D020181||syndrome upper airway resistance sleep apnea D020181||upper airway resistance sleep apnea syndrome C537542||microcephaly nonsyndromal C537542||nonsyndromal microcephaly C537542||nonsyndromic microcephaly D020189||nocturnal myoclonus syndrome D020189||excessive periodic sleep related leg movements D020189||myoclonus syndrome nocturnal D020189||myoclonus syndrome sleep D020189||myoclonus syndromes sleep D020189||nocturnal myoclonus syndromes D020189||periodic leg movements excessive sleep related D020189||periodic limb movement disorder D020189||periodic movement disorder sleep D020189||sleep disorder periodic movements D020189||sleep myoclonus syndrome D020189||sleep myoclonus syndromes D020189||sleep related periodic leg movements excessive D020189||syndrome nocturnal myoclonus D020189||syndrome sleep myoclonus D020189||syndromes sleep myoclonus D015605||cowpox D015605||cow pox D015605||pox cow C563957|600321||diabetes mellitus insulin dependent 7 C563957|600321||iddm7 C563957|600321||insulin dependent diabetes mellitus 7 C567636|613341||leber congenital amaurosis 14 C567636|613341||lca14 C567636|613341||retinal dystrophy early onset severe lrat related C567636|613341||retinal dystrophy early onset severe lrat related included C567636|613341||retinitis pigmentosa juvenile lrat related C567636|613341||retinitis pigmentosa juvenile lrat related included 607475|C564392||bothnia retinal dystrophy 607475|C564392||vasterbotten dystrophy 612527|C567281||diamond blackfan anemia 4 612527|C567281||dba4 C580365||pdgfrb associated chronic eosinophilic leukemia C580365||atypical philadelphia negative chronic myeloid leukemia C580365||chronic myeloproliferative disorder with eosinophilia C580365||clonal eosinophilia with chronic myeloproliferative disorder C580365||primary eosinophilia with chronic myeloproliferative disorder C565353|605225||inflammatory bowel disease 7 C565353|605225||ibd7 C537536||seemanova lesny syndrome C536205||ellis yale winter syndrome C580364||pdgfra associated chronic eosinophilic leukemia C580364||chronic eosinophilic leukemia C580364||pdgfra associated myeloproliferative neoplasm C566076||teeth odd shapes of C566076||conical teeth multiple C566076||lobodontia C536203||elejalde disease C536203||melanolysosomal neurocutaneous syndrome C536203||neuroectodermal melanolysosomal disease C536203||neuro ectodermal melanolysosomal syndrome C537535||secretory breast carcinoma C536204||elliott ludman teebi syndrome C537538||segmentation syndrome 1 C537538||klippel feil syndrome with laryngeal malformation C536207||citrulline transport defect C567354|612301||osteopetrosis autosomal recessive 7 C567354|612301||optb7 C567354|612301||osteopetrosis osteoclast poor with hypogammaglobulinemia C537539||microcephaly microcornea syndrome seemanova type C536208||clark baraitser syndrome C536208||baraitser syndrome D020177||hypersomnolence idiopathic D020177||cns hypersomnolence idiopathic D020177||cns hypersomnolences idiopathic D020177||hypersomnia idiopathic D020177||hypersomnias idiopathic D020177||hypersomnolence cns idiopathic D020177||hypersomnolence idiopathic cns D020177||hypersomnolences idiopathic D020177||hypersomnolences idiopathic cns D020177||idiopathic central nervous system hypersomnolence D020177||idiopathic cns hypersomnolence D020177||idiopathic cns hypersomnolences D020177||idiopathic hypersomnia D020177||idiopathic hypersomnias D020177||idiopathic hypersomnolence D020177||idiopathic hypersomnolences C566039||colorectal cancer hereditary nonpolyposis type 6 C566039||colon cancer hereditary nonpolyposis type 6 C566039||hnpcc6 D019189||iron metabolism disorders D019189||disorder iron metabolism D019189||disorders iron metabolism D019189||iron metabolism disorder D019189||metabolism disorder iron D019189||metabolism disorders iron D004927||escherichia coli infections D004927||e coli infection D004927||e coli infections D004927||escherichia coli infection D004927||infection e coli D004927||infection escherichia coli D004927||infections e coli D004927||infections escherichia coli C567369||retinitis pigmentosa late onset dominant C566038||tremor of intention ataxia and lipofuscinosis C567500|611892||aneurysm intracranial berry 6 C567500|611892||anib6 C567481|300695||scapuloperoneal myopathy x linked dominant C567481|300695||scapuloperoneal myopathy fhl1 related C567481|300695||spm C536415|260000||primary hyperoxaluria type 2 C536415|260000||d glycerate dehydrogenase deficiency C536415|260000||glyceric aciduria C536415|260000||glyoxylate reductase hydroxypyruvate reductase deficiency C536415|260000||hp2 C536415|260000||hyperoxaluria primary type ii C536415|260000||oxalosis 2 C536415|260000||oxalosis ii D016908||gram positive bacterial infections D016908||bacterial infection gram positive D016908||bacterial infections gram positive D016908||gram positive bacterial infection D016908||infection gram positive bacterial D016908||infections gram positive bacterial D020179||jet lag syndrome D020179||jet lag syndromes D020179||time zone change syndrome D020179||time zone syndrome D020179||time zone syndromes C565168|120790||complement component 4 partial deficiency of D020178||sleep disorders circadian rhythm D020178||advanced sleep phase syndrome D020178||circadian rhythm sleep disorders D020178||cycle disorder sleep wake D020178||cycle disorders sleep wake D020178||delayed sleep phase syndrome D020178||disturbed nyctohemeral rhythm D020178||disturbed nyctohemeral rhythms D020178||non 24 hour sleep wake disorder D020178||nonorganic sleep wake cycle disorders D020178||nyctohemeral rhythm disturbed D020178||nyctohemeral rhythms disturbed D020178||shift work sleep disorder D020178||shift work sleep disorders D020178||sleep disorder shift work D020178||sleep disorders shift work D020178||sleep wake cycle disorder D020178||sleep wake cycle disorders D020178||sleep wake disorder non 24 hour D020178||sleep wake schedule disorder D020178||sleep wake schedule disorders 143470||hyperalphalipoproteinemia 1 143470||cetp deficiency high density lipoprotein cholesterol level quantitative trait locus 10 included 143470||cholesterol ester transfer protein deficiency 143470||halp1 143470||hdlcq10 included D016905||gram negative bacterial infections D016905||bacterial infection gram negative D016905||bacterial infections gram negative D016905||gram negative bacterial infection D016905||infection gram negative bacterial D016905||infections gram negative bacterial C580334||nonsyndromic deafness C580334||isolated deafness C580334||nonsyndromic hearing impairment C580334||nonsyndromic hearing loss C580334||undifferentiated deafness C580335||nonsyndromic holoprosencephaly C580335||isolated holoprosencephaly C580335||isolated hpe C580335||nonsyndromic hpe C580335||non syndromic non chromosomal holoprosencephaly C580335||non syndromic non chromosomal hpe C567374||skin hair eye pigmentation variation in 11 C567374||shep11 C567374||skin hair eye pigmentation 11 blue nonblue eyes C566043||torus palatinus and torus mandibularis C567376||skin hair eye pigmentation variation in 10 C567376||shep10 C567376||skin hair eye pigmentation 10 blond brown hair 611390||spastic ataxia 3 autosomal recessive 611390||arsal 611390||spax3 C566045||tibial torsion bilateral medial C567370||ichthyosis congenital autosomal recessive ichthyin related C567370||arcii 609056|C563799||amish infantile epilepsy syndrome 609056|C563799||epilepsy syndrome infantile onset symptomatic 609056|C563799||gm3 synthase deficiency C563236|273300||testicular germ cell tumor C563236|273300||embryonal cell carcinoma included C563236|273300||endodermal sinus tumor included C563236|273300||male germ cell tumor mgct seminoma included C563236|273300||nonseminomatous germ cell tumors included C563236|273300||spermatocytic seminoma included C563236|273300||teratoma testicular included C563236|273300||tgct C538331|161000||naegeli syndrome C538331|161000||naegeli franceschetti jadassohn syndrome C538331|161000||nfjs C538331|161000||nfj syndrome C567195|612714||exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis D004937||esophageal fistula D004937||esophageal fistulas D004937||fistula esophageal D004937||fistulas esophageal 181750||scleroderma familial progressive 181750||systemic sclerosis susceptibility to crest syndrome included D004936||diverticulum esophageal D004936||diverticula esophageal D004936||esophageal diverticula D004936||esophageal diverticulum C566511|609579||scaphocephaly maxillary retrusion and mental retardation D003607||dacryocystitis D003607||dacryoadenitides D003607||dacryoadenitis D003607||dacryocystitides D004939||esophageal perforation D004939||esophageal perforations D004939||perforation esophageal D004939||perforations esophageal D020163||ornithine carbamoyltransferase deficiency disease D020163||deficiencies ornithine transcarbamylase D020163||deficiencies otc D020163||deficiency disease ornithine carbamoyltransferase D020163||deficiency disease ornithine transcarbamylase D020163||deficiency ornithine transcarbamylase D020163||deficiency otc D020163|311250||ornithine carbamoyltransferase deficiency D020163||ornithine transcarbamylase deficiencies D020163||ornithine transcarbamylase deficiency D020163||ornithine transcarbamylase deficiency disease D020163|311250||ornithine transcarbamylase deficiency hyperammonemia due to D020163||otc deficiencies D020163||otc deficiency C566046||tibia hypoplasia of with polydactyly C566046||tibial hemimelia polydactyly triphalangeal thumbs with fibular dimelia D004933||esophageal atresia D004933||atresia esophageal D004933||atresias esophageal D004933||esophageal atresias D004932||esophageal and gastric varices D004932||esophageal varices D004932||esophageal varix D004932||gastric varices D004932||gastric varix D004932||varices esophageal D004932||varices gastric D004932||varix esophageal D004932||varix gastric D004935||esophageal diseases D004935||disease esophageal D004935||diseases esophageal D004935||esophageal disease C566049||thyrotropin releasing hormone resistance generalized D004934||esophageal cyst D004934||cyst esophageal D004934||cysts esophageal D004934||esophageal cysts D019190||iron overload D019190||overload iron C562420|113200||brachydactyly type d C562420|113200||bdd C562420|113200||stub thumb D004931||esophageal achalasia D004931||achalasia D004931||achalasia esophageal D004931||achalasias D004931||achalasias esophageal D004931||cardiospasm D004931||cardiospasms D004931||esophageal achalasias D004931||megaesophagus D016919||meningitis cryptococcal D016919||cerebral cryptococcoses D016919||cerebral cryptococcoses granulomous D016919||cerebral cryptococcosis D016919||cerebral cryptococcosis granulomous D016919||cryptococcal meningitides D016919||cryptococcal meningitis D016919||cryptococcoses cerebral D016919||cryptococcoses granulomous cerebral D016919||cryptococcosis cerebral D016919||cryptococcosis granulomous cerebral D016919||granulomous cerebral cryptococcoses D016919||granulomous cerebral cryptococcosis D016919||meningitides cryptococcal D016919||toruloma D016919||torulomas C567876|612881||heterotopia periventricular associated with chromosome 5q deletion C567876|612881||periventricular nodular heterotopia 5 C567876|612881||pvnh5 310200|300376|D020388||muscular dystrophy duchenne type 310200||dmd duchenne muscular dystrophy 310200|300376|D020388||muscular dystrophy pseudohypertrophic progressive duchenne type D016916||joint deformities acquired D016916||acquired joint deformities D016916||acquired joint deformity D016916||deformities acquired joint D016916||deformity acquired joint D016916||joint deformity acquired D016917||angiomatosis bacillary D016917||angiomatoses bacillary D016917||angiomatoses bacillary epithelioid D016917||angiomatoses epithelioid D016917||angiomatosis bacillary epithelioid D016917||angiomatosis epithelioid D016917||bacillary angiomatoses D016917||bacillary angiomatosis D016917||bacillary epithelioid angiomatoses D016917||bacillary epithelioid angiomatosis D016917||epithelioid angiomatoses D016917||epithelioid angiomatoses bacillary D016917||epithelioid angiomatosis D016917||epithelioid angiomatosis bacillary D016918||arthritis reactive D016918||arthritides postinfectious D016918||arthritides post infectious D016918||arthritides reactive D016918||arthritis postinfectious D016918||arthritis post infectious D016918||disease reiter D016918||disease reiter apos s D016918||postinfectious arthritides D016918||post infectious arthritides D016918||postinfectious arthritis D016918||post infectious arthritis D016918||reactive arthritides D016918||reactive arthritis D016918||reiter disease D016918||reiter apos s disease D016918||reiters disease D016918||reiter syndrome D016918||syndrome reiter C563886|608647||ciliary dyskinesia primary 5 C563886|608647||cild5 C563886|608647||ciliary dyskinesia primary 5 with or without situs inversus C563886|608647||ciliary dyskinesia primary 5 without situs inversus 611383||ush2d C567385||chromosome 10q23 deletion syndrome C566053||thumbs stiff with brachydactyly type a1 and developmental delay 607602|C564367||ichthyosis cyclic with epidermolytic hyperkeratosis 607602|C564367||aei 607602|C564367||ciehk 607602|C564367||epidermolytic ichthyosis annular C566054||thumb deformity and alopecia C566055||bleeding disorder due to defective thromboxane a2 receptor 607087|C564627||aortic aneurysm familial thoracic 2 607087|C564627||aat2 607087|C564627||faa2 C564664|606768||myopathy distal with anterior tibial onset C564664|606768||dmat C566051||takao vcf syndrome C566017||parkinson disease 5 C567348||thrombophilia hereditary due to protein s deficiency autosomal recessive C566018||twinning due to superfetation C566018||superfetation twinning C566019||tune deafness C566019||amusia congenital C566019||dysmelodia D020151||protein c deficiency D020151||deficiencies protein c D020151||deficiency protein c D020151||hereditary thrombophilia due to protein c deficiency D020151||protein c deficiencies C563961|600316||deafness autosomal recessive 3 C563961|600316||dfnb3 C563961|600316||neurosensory nonsyndromic recessive deafness 3 C563961|600316||nsrd3 C566583|602087||arrhythmogenic right ventricular dysplasia familial 4 C566583|602087||arrhythmogenic right ventricular cardiomyopathy 4 C566583|602087||arvc4 C566583|602087||arvd4 300856||hypospadias 4 x linked susceptibility to 300856||hysp4 C566013||urate binding globulin decrease in D020150||chorea gravidarum D020150||chorea gravidarums D020150||chorea pregnancy induced D020150||choreas pregnancy induced D020150||choreoathetoses pregnancy associated D020150||choreoathetosis pregnancy associated D020150||gravidarum chorea D020150||pregnancy associated choreoathetoses D020150||pregnancy associated choreoathetosis D020150||pregnancy induced chorea D020150||pregnancy induced choreas C567344||chromosome 2q31 2 deletion syndrome C566014||undritz anomaly C566014||hypersegmentation of nuclei of polymorphonuclear leukocytes C567086|611783||erythrocytosis familial 4 C567086|611783||ecyt4 C567347||thrombophilia hereditary due to protein s deficiency autosomal dominant C567346||chromosome 1q43 q44 deletion syndrome C567346||chromosome 1qter deletion syndrome 608236|C564269||slowed nerve conduction velocity autosomal dominant C567739|135700||fibrosis of extraocular muscles congenital 3b C567739|135700||blepharoptosis with absent eye movements C567739|135700||cfeom1 C567739|135700||cfeom3b C567739|135700||cfeom3b included C567739|135700||feom1 C567739|135700||feom1 locus fibrosis of extraocular muscles congenital 3b included C567739|135700||fibrosis of extraocular muscles congenital 1 C567739|135700||ophthalmoplegia congenital 601471|C536386||facial paresis hereditary congenital 601471|C536386|C563309||facial palsy congenital unilateral or bilateral 601471|C536386||facial paresis hereditary congenital 1 601471|C536386||facial paresis hereditary congenital 2 601471|C536386||hcfp1 601471|C536386||hcfp2 601471|C536386||mbs2 formerly 601471|C536386||mbs3 formerly 601471|C536386||mobius syndrome 2 formerly 601471|C536386||mobius syndrome 3 formerly 601471|C536386||moebius syndrome 2 formerly 601471|C536386||moebius syndrome 3 formerly 607450|C564400||arrhythmogenic right ventricular dysplasia familial 8 607450|C564400||arrhythmogenic right ventricular cardiomyopathy 8 607450|C564400||arvc8 607450|C564400||arvd8 D020157||amino acid transport disorders inborn D020157||inborn transport disorders amino acid D020157||inherited amino acid transport disorders D020157||transport disorders amino acid inborn C565184|610758||cerebrooculofacioskeletal syndrome 4 C565184|610758||cofs4 C580316||myofibrillar myopathy C580316||myofibrillar myopathies 611377||bdb2 D052582||trigger finger disorder D052582||digits trigger D052582||digit trigger D052582||entrapment flexor tendon D052582||entrapments flexor tendon D052582||finger snapping D052582||fingers snapping D052582||flexor tendon entrapment D052582||flexor tendon entrapments D052582||snapping finger D052582||snapping fingers D052582||tendon entrapment flexor D052582||tendon entrapments flexor D052582||thumbs trigger D052582||thumb trigger D052582||trigger digit D052582||trigger digits D052582||trigger thumb D052582||trigger thumbs D033461||hyperuricemia D005693|230200||galactosemias D005693|230200||classic galactosemia D005693|230200||classic galactosemias D005693|230200||deficiencies galactokinase D005693|230200||deficiencies galactose 1 phosphate uridyltransferase D005693|230200||deficiencies galactose 1 phosphate uridylyltransferase D005693|230200||deficiencies galactose epimerase D005693|230200||deficiencies gale D005693|230200||deficiencies galk D005693|230200||deficiencies galt D005693|230200||deficiencies hereditary galactokinase D005693|230200||deficiencies udp galactose 4 epimerase D005693|230200||deficiency disease galactokinase D005693|230200||deficiency disease galactose 1 phosphate uridyl transferase D005693|230200||deficiency diseases udp galactose 4 epimerase D005693|230200||deficiency disease udp galactose 4 epimerase D005693|230200||deficiency disease udpglucose 4 epimerase D005693|230200||deficiency galactokinase D005693|230200||deficiency galactose 1 phosphate uridyltransferase D005693|230200||deficiency galactose 1 phosphate uridylyltransferase D005693|230200||deficiency galactose epimerase D005693|230200||deficiency galactosemia epimerase D005693|230200||deficiency galactosemias epimerase D005693|230200||deficiency gale D005693|230200||deficiency galk D005693|230200||deficiency galt D005693|230200||deficiency hereditary galactokinase D005693|230200||deficiency udp galactose 4 epimerase D005693|230200||epimerase deficiency galactosemia D005693|230200||epimerase deficiency galactosemias D005693|230200||galactokinase deficiencies D005693|230200||galactokinase deficiencies hereditary D005693|230200||galactokinase deficiency D005693|230200||galactokinase deficiency disease D005693|230200||galactokinase deficiency diseases D005693|230200||galactokinase deficiency hereditary D005693|230200||galactose 1 phosphate uridyltransferase deficiencies D005693|230200||galactose 1 phosphate uridyltransferase deficiency D005693|230200||galactose 1 phosphate uridyl transferase deficiency disease D005693|230200||galactose 1 phosphate uridylyltransferase deficiencies D005693|230200||galactose 1 phosphate uridylyltransferase deficiency D005693|230200||galactose epimerase deficiencies D005693|230200||galactose epimerase deficiency D005693|230200||galactosemia D005693|230200||galactosemia 2 D005693|230200||galactosemia 2s D005693|230200||galactosemia 3 D005693|230200||galactosemia 3s D005693|230200||galactosemia classic D005693|230200||galactosemia epimerase deficiency D005693|230200||galactosemia ii D005693|230200||galactosemia iii D005693|230200||galactosemia iiis D005693|230200||galactosemias classic D005693|230200||galactosemias epimerase deficiency D005693|230200||gale deficiencies D005693|230200||gale deficiency D005693|230200||galk deficiencies D005693|230200||galk deficiency D005693|230200||galt deficiencies D005693|230200||hereditary galactokinase deficiencies D005693|230200||hereditary galactokinase deficiency D005693|230200||udp galactose 4 epimerase deficiencies D005693|230200||udp galactose 4 epimerase deficiency D005693|230200||udp galactose 4 epimerase deficiency disease D005693|230200||udp galactose 4 epimerase deficiency diseases D005693|230200||udpglucose 4 epimerase deficiency disease D005693|230200||udpglucose hexose 1 phosphate uridylyltransferase deficiency D005693|230200||uridyltransferase deficiencies galactose 1 phosphate D005693|230200||uridyltransferase deficiency galactose 1 phosphate D005693|230200||uridylyltransferase deficiencies galactose 1 phosphate D005693|230200||uridylyltransferase deficiency galactose 1 phosphate D005693|230200||utp hexose 1 phosphate uridylyltransferase deficiency D005693|230200||utp hexose 1 phosphate uridylyltransferase deficiency disease C562657|612716||dystonia dopa responsive due to sepiapterin reductase deficiency C562657|612716||dopa responsive dystonia due to sepiapterin reductase deficiency C562657|612716||sepiapterin reductase deficiency C562657|612716||spr deficiency C566022||trochlea of the humerus aplasia of C567353||thrombophilia hereditary due to protein c deficiency autosomal recessive C567353|612304||proc deficiency autosomal recessive C567353|612304||protein c deficiency autosomal recessive C566023||down syndrome critical region C567350||chromosome 2q32 q33 deletion syndrome D020144||basal ganglia cerebrovascular disease D020144||basal ganglia vascular disease D020144||cerebrovascular disease basal ganglia D020144||lenticulostriate diseases vascular D020144||lenticulostriate vascular disease D020144||lenticulostriate vascular diseases D020144||lenticulostriate vasculopathies D020144||lenticulostriate vasculopathy D020144||vascular disease basal ganglia D020144||vascular disease lenticulostriate D020144||vascular diseases basal ganglia D020144||vascular diseases lenticulostriate D020144||vascular lenticulostriate diseases D020144||vasculopathies lenticulostriate D020144||vasculopathy lenticulostriate C566028||triphalangeal thumb with double phalanges D004915||leukemia erythroblastic acute D004915||acute erythroblastic leukemia D004915||acute erythroblastic leukemias D004915||di guglielmo disease D004915||di guglielmo apos s disease D004915||di guglielmos disease D004915||disease di guglielmo D004915||disease di guglielmo apos s D004915||erythremic myeloses D004915||erythremic myelosis D004915||erythroblastic leukemia acute D004915||erythroblastic leukemias acute D004915||erythroleukemia D004915||erythroleukemias D004915||leukemia acute erythroblastic D004915||leukemia myeloid acute m6 D004915||leukemias acute erythroblastic D004915||myeloid leukemia acute m6 D004915||myeloses erythremic D004915||myelosis erythremic D020143||gangliosidoses gm2 D020143||gangliosidose gm2 D020143||gangliosidosis gm2 D020143||gm2 gangliosidose D020143||g m2 gangliosidoses D020143||gm2 gangliosidoses D020143||gm2 gangliosidosis C566029||triosephosphate isomerase deficiency D020141||hemostatic disorders D020141||disorders vascular hemostatic D020141||disorder vascular hemostatic D020141||hemostatic disorder D020141||hemostatic disorders vascular D020141||hemostatic disorder vascular D020141||vascular hemostatic disorder D020141||vascular hemostatic disorders D020140||lysosomal storage diseases nervous system D020140||lysosomal enzyme disorders nervous system D020140||nervous system lysosomal enzyme disorders D020140||nervous system lysosomal storage diseases C566024||transient myeloproliferative disorder of down syndrome 138900||uric acid concentration serum quantitative trait locus 1 138900||gout1 138900||gout susceptibility 1 138900||uaqtl1 C566025||leukemia megakaryoblastic of down syndrome D020149||manganese poisoning D020149||manganese neurotoxicity syndrome D020149||manganese neurotoxicity syndromes D020149||nervous system diseases manganese induced D020149||nervous system poisoning manganese D020149||neurotoxicity syndrome manganese D020149||neurotoxicity syndromes manganese D020149||poisoning manganese D020149||syndrome manganese neurotoxicity D020149||syndromes manganese neurotoxicity C538101|311400||paine syndrome C538101|311400||microcephaly with spastic diplegia C538101|311400||microcephaly with spastic diplegia seemanova syndrome i included C538101|311400||seemanova syndrome i C538189|228930||fuhrmann syndrome C538189|228930||fibular aplasia or hypoplasia femoral bowing and poly syn and oligodactyly C562799|229050||folate malabsorption hereditary C562799|229050||congenital folate malabsorption C562799|229050||folic acid transport defect C562799|229050||hereditary folate malabsorption D020147||coagulation protein disorders D020147||blood coagulation factor deficiencies D020147||coagulation protein disorder D020147||coagulation proteins disorder D020147||coagulation proteins disorders D020147||disorder coagulation protein D020147||disorder coagulation proteins D020147||disorders coagulation protein D020147||disorders coagulation proteins D020147||protein disorder coagulation D020147||protein disorders coagulation D020147||proteins disorder coagulation D020147||proteins disorders coagulation D020146||putaminal hemorrhage D020146||brain hemorrhage putaminal D020146||brain hemorrhages putaminal D020146||hemorrhage putamen D020146||hemorrhage putaminal D020146||putamen hemorrhage D020146||putaminal hematoma C580329||opticospinal multiple sclerosis C580329||opticospinal ms C580329||optic spinal ms C580329||optic spinal multiple sclerosis D020145||basal ganglia hemorrhage D020145||basal ganglionic hemorrhage D020145||ganglionic hemorrhage basal D020145||hematoma basal ganglia D020145||hemorrhage basal ganglia D020145||hemorrhage basal ganglionic 609048||melanoma cutaneous malignant susceptibility to 3 609048||cmm3 D051261||granulomatosis orofacial D051261||granulomatoses orofacial D051261||orofacial granulomatoses D051261||orofacial granulomatosis 612692||agammaglobulinemia 6 autosomal recessive 612692||agammaglobulinemia autosomal recessive due to cd79b defect 612692||agm6 610031||polymicrogyria symmetric or asymmetric 610031||pmgysa C567363|612286||nephrolithiasis osteoporosis hypophosphatemic 1 C567363|612286||nphlop1 C566031||triglyceride storage disease type i C567362|612287||nephrolithiasis osteoporosis hypophosphatemic 2 C567362|612287||nphlop2 C566032||trichodysplasia xeroderma C566034||trichoepitheliomas multiple desmoplastic D004919||erythroplasia D004919||erythroplasias C567360||progeroid syndrome congenital petty type C566030||triglyceride storage disease type ii D020132||anticipation genetic D020132||anticipations genetic D020132||genetic anticipation D020132||genetic anticipations 300831||ck syndrome 300831||mental retardation x linked with thin body habitus and cortical malformation C567328||coloboma ocular and ichthyosis brain malformations and endocrine abnormalities D019142||hemorrhagic fever ebola D019142||ebola hemorrhagic fever D019142||ebola virus disease C567325|612389||pontocerebellar hypoplasia type 2b 300833||46 xx sex reversal 3 300833||46 xx sex reversal sox3 related chromosome xq26 deletion syndrome included 300833||chromosome xq26 duplication syndrome 300833||srxx3 C567324|612390||pontocerebellar hypoplasia type 2c 135100|D009221||myositis ossificans 135100|D009221||fibrodysplasia ossificans progressiva 135100|D009221||fop 135100|D009221||myositis ossificans progressiva 135100|D009221||progressive myositis ossificans 135100|D009221||progressive ossifying myositis 103285|C538052||propping zerres syndrome 103285|C538052||acro dermato ungual lacrimal tooth syndrome 103285|C538052||adult syndrome 103285|C538052||pigment anomaly ectrodactyly hypodontia D054331|305700||sertoli cell only syndrome D054331|305700||del castillo syndrome D054331|305700||germinal cell aplasia D054331|305700||spermatogenic failure x linked 1 D054331|305700||spgfx1 D020139||gastroschisis D020139||congenital fissure of the abdominal cavity D020139||gastroschises D020138||hyperhomocysteinemias C581628||metatropic dwarfism type ii C581628||metatropic dwarfism type 2 C581628||metatropic dysplasia 2 C581628||metatropic dysplasia type ii D051270||headache disorders primary D051270||alarm clock headache D051270||alarm clock headaches D051270||benign cough headache D051270||benign cough headaches D051270||benign exertional headache D051270||benign exertional headaches D051270||clock headache alarm D051270||clock headaches alarm D051270||cough headache D051270||cough headache benign D051270||cough headaches benign D051270||disorder primary headache D051270||disorders primary headache D051270||exertional headache benign D051270||exertional headaches benign D051270||headache alarm clock D051270||headache benign cough D051270||headache benign exertional D051270||headache cough D051270||headache disorder primary D051270||headache hypnic D051270||headache ice pick D051270||headache primary cough D051270||headache primary exertional D051270||headache primary stabbing D051270||headache primary thunderclap D051270||headaches alarm clock D051270||headaches benign cough D051270||headaches benign exertional D051270||headaches ice pick D051270||headache stabbing D051270||headache syndrome hypnic D051270||headache syndromes hypnic D051270||headache thunderclap D051270||hypnic headache D051270||hypnic headache syndrome D051270||hypnic headache syndromes D051270||ice pick headache D051270||ice pick headaches D051270||primary cough headache D051270||primary exertional headache D051270||primary headache disorder D051270||primary headache disorders D051270||primary stabbing headache D051270||primary thunderclap headache D051270||stabbing headache D051270||thunderclap headache 235400|C538266||atypical hemolytic uremic syndrome 235400|C538266||ahus1 235400|C538266||ahus2 235400|C538266||ahus3 235400|C538266||ahus4 235400|C538266||ahus5 235400|C538266||ahus6 235400|C538266||ahus susceptibility to 1 hemolytic uremic syndrome typical included 235400|C538266||ahus susceptibility to 2 235400|C538266||ahus susceptibility to 3 235400|C538266||ahus susceptibility to 4 235400|C538266||ahus susceptibility to 5 235400|C538266||ahus susceptibility to 6 235400|C538266||hemolytic uremic syndrome atypical 235400|C538266||hemolytic uremic syndrome atypical susceptibility to 1 235400|C538266||hemolytic uremic syndrome atypical susceptibility to 2 235400|C538266||hemolytic uremic syndrome atypical susceptibility to 3 235400|C538266||hemolytic uremic syndrome atypical susceptibility to 4 235400|C538266||hemolytic uremic syndrome atypical susceptibility to 5 235400|C538266||hemolytic uremic syndrome atypical susceptibility to 6 235400|C538266||nonenteropathic hus 235400|C538266||non shiga like toxin associated hus 235400|C538266||non stx hus 251255|C567101||microcephaly with mental retardation and digital anomalies 251255|C567101||jawad syndrome 251255|C567101||jwds 251255|C567101|D011004||kelly syndrome D007160||immunoproliferative disorders D007160||disorder immunoproliferative D007160||disorders immunoproliferative D007160||immunoproliferative disorder D051271||headache disorders secondary D051271||analgesic overuse headache D051271||analgesic overuse headaches D051271||analgesic rebound headache D051271||analgesic rebound headaches D051271||disorder secondary headache D051271||disorders secondary headache D051271||headache analgesic overuse D051271||headache analgesic rebound D051271||headache disorder secondary D051271||headaches analgesic overuse D051271||headaches analgesic rebound D051271||secondary headache disorder D051271||secondary headache disorders D007161||immunoproliferative small intestinal disease D007161||alpha chain disease D007161||alpha chain diseases D007161||disease alpha chain D007161||diseases alpha chain D007161||heavy chain disease iga type D007161||ipsid D007161||lymphoma mediterranean D007161||mediterranean lymphoma C566000||glycoprotein ia deficiency C566000||gp ia deficiency C566006||long qt syndrome 1 2 300842||mclds mcleod phenotype 300842||neuroacanthocytosis mcleod type mcleod syndrome with chronic granulomatous disease included C566008||vasculitis lymphocytic nodular 300845||moyamoya disease 4 with short stature hypergonadotropic hypogonadism and facial dysmorphism 300845||chromosome xq28 deletion syndrome 3 4 kb 300845||mymy4 300845||syndromic moyamoya disease C566002||vertebral hypoplasia with lumbar kyphosis D019150||neuroaxonal dystrophies D019150||adult neuroaxonal dystrophy D019150||disease seitelberger D019150||disease seitelberger apos s D019150||dystrophy adult neuroaxonal D019150||dystrophy infantile neuroaxonal D019150||dystrophy juvenile neuroaxonal D019150||dystrophy neuroaxonal D019150||infantile neuroaxonal dystrophy D019150||juvenile neuroaxonal dystrophy D019150||late infantile neuroaxonal dystrophy D019150||nbia pla2g6 related D019150||neuroaxonal dystrophy D019150||neuroaxonal dystrophy adult D019150||neuroaxonal dystrophy juvenile D019150||neuroaxonal dystrophy late infantile D019150||pla2g6 associated neurodegeneration D019150||pla2g6 related nbia D019150||seitelberger apos s disease D019150||seitelbergers disease C566004||venular insufficiency systemic C565780|604387||nephronophthisis 3 C565780|604387||nephronophthisis adolescent C565780|604387||nph3 C565780|604387||nphp3 C537252|603552||hemophagocytic lymphohistiocytosis familial 4 C537252|603552||fhl4 C537252|603552||hlh4 C537252|603552||hplh4 C567040|603585||congenital disorder of glycosylation type iif C567040|603585||cdg2f C567040|603585||cdgiif C567040|603585||cdg iif D007169||impetigo D007169||impetigo contagiosa D007177||inappropriate adh syndrome D007177||adh syndrome inappropriate D007177||antidiuretic hormone inappropriate secretion D007177||inappropriate vasopressin secretion syndrome D007177||schwartz bartter syndrome D007177||siadh D007177||syndrome inappropriate adh D007177||syndrome of inappropriate adh siadh secretion D007177||syndrome schwartz bartter D007174||impulse control disorders D007174||disorders impulse control D007174||disorders intermittent explosive D007174||explosive disorder intermittent D007174||intermittent explosive disorder D007174||intermittent explosive disorders D007174||kleptomania C565292|605804||dermatitis atopic 3 C565292|605804||atod3 C565292|605804||dermatitis atopic with asthma 612671||uric acid concentration serum quantitative trait locus 4 612671||gout4 612671||gout susceptibility 4 612671||uaqtl4 253260|D028921||biotinidase deficiency 253260|D028921||biotinidase deficiencies 253260|D028921||btd deficiencies 253260|D028921||btd deficiency 253260|D028921||carboxylase deficiency multiple late onset 253260|D028921||deficiencies biotinidase 253260|D028921||deficiencies btd 253260|D028921||deficiency biotinidase 253260|D028921||deficiency btd 253260|D028921||deficiency multiple carboxylase late onset 253260|D028921||late onset biotin responsive multiple carboxylase deficiency 253260|D028921||late onset multiple carboxylase deficiency 253260|D028921||multiple carboxylase deficiency late onset D007172||erectile dysfunction D007172||dysfunction erectile D007172||impotence D007172||impotence male D007172||impotence male sexual D007172||male impotence D007172||male sexual impotence D007172||sexual impotence male C567341||thrombophilia familial due to decreased release of tissue plasminogen activator C567341||hyperfibrinolysis familial due to increased release of tissue plasminogen activator C566010||uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis C566011||urticaria familial localized heat C566012||ureter bifid or double 600698||high mobility group at hook 2 600698||hmga2 high mobility group protein i c 600698||hmgic 600698||high mobility group protein hmgic breakpoint associated with benign lipoma 600698||babl 600698||lipo hmgic lpp fusion gene included 600698||hmgic lhfp fusion gene included 600698||hmgic rad51l1 fusion gene included 600698||hmgic hei10 fusion gene included 600698||hmgic aldh2 fusion gene included 600698||hmgic cox6c fusion gene included D019121||burkholderia infections D019121||burkholderia infection D019121||infection burkholderia D019121||infections burkholderia C537032|245660||laryngo onycho cutaneous syndrome C537032|245660||laryngeal and ocular granulation in indian children C537032|245660||laryngoonychocutaneous syndrome C537032|245660||locs C537032|245660||logic syndrome C567300||skin hair eye pigmentation variation in 4 C567300||shep4 C567300||skin hair eye pigmentation 4 fair dark skin 144700|D002292||carcinoma renal cell 144700|D002292||adenocarcinoma of kidney 144700|D002292||adenocarcinoma of kidney nonpapillary renal carcinoma 1 locus included 144700|D002292||adenocarcinoma renal 144700|D002292||adenocarcinoma renal cell 144700|D002292||adenocarcinomas renal cell 144700|D002292||cancer renal cell 144700|D002292||cancers renal cell 144700|D002292||carcinoma collecting duct 144700|D002292||carcinoma collecting duct kidney 144700|D002292||carcinoma hypernephroid 144700|D002292||carcinoma nephroid 144700|D002292||carcinomas collecting duct 144700|D002292||carcinomas collecting duct kidney 144700|D002292||carcinomas hypernephroid 144700|D002292||carcinomas nephroid 144700|D002292||carcinomas renal cell 144700|D002292||chromophil renal cell carcinoma 144700|D002292||chromophobe renal cell carcinoma 144700|D002292||clear cell renal carcinoma 144700|D002292||clear cell renal cell carcinoma 144700|D002292||collecting duct carcinoma 144700|D002292||collecting duct carcinoma kidney 144700|D002292||collecting duct carcinoma of the kidney 144700|D002292||collecting duct carcinomas 144700|D002292||collecting duct carcinomas kidney 144700|D002292||duct carcinoma collecting 144700|D002292||duct carcinoma collecting kidney 144700|D002292||duct carcinomas collecting 144700|D002292||duct carcinomas collecting kidney 144700|D002292||grawitz tumor 144700|D002292||hypernephroid carcinoma 144700|D002292||hypernephroid carcinomas 144700|D002292||hypernephroma 144700|D002292||hypernephromas 144700|D002292||nephroid carcinoma 144700|D002292||nephroid carcinomas 144700|D002292||nrc1 included 144700|D002292||papillary renal cell carcinoma 144700|D002292||rcc 144700|D002292||rccp1 144700|D002292||renal cell adenocarcinoma 144700|D002292||renal cell adenocarcinomas 144700|D002292||renal cell cancer 144700|D002292||renal cell cancers 144700|D002292||renal cell carcinoma 144700|D002292||renal cell carcinoma nonpapillary 144700|D002292||renal cell carcinoma papillary 144700|D002292||renal cell carcinoma papillary 1 144700|D002292||renal cell carcinomas 144700|D002292||renal collecting duct carcinoma 144700|D002292||sarcomatoid renal cell carcinoma 144700|D002292||tumor grawitz C565100|125852||diabetes mellitus insulin dependent 2 C565100|125852||iddm2 C565100|125852||insulin dependent diabetes mellitus 2 300816||combined oxidative phosphorylation deficiency 6 300816||coxpd6 300816||encephalomyopathy mitochondrial x linked 606179|D017824||bone cysts aneurysmal 606179|D017824||aneurysmal bone cysts 606179|D017824||bone cyst aneurysmal 606179|D017824||cyst aneurysmal bone 606179|D017824||cysts aneurysmal bone 300814||nystagmus 6 congenital x linked 300814||nys6 210250|C537345||sitosterolemia 210250|C537345||macrothrombocytopenia stomatocytosis mediterranean 210250|C537345||phytosterolemia 210250|C537345||phytosterolemia macrothrombocytopenia stomatocytosis mediterranean included 210250|C537345||plant sterol storage disease 210250|C537345||pseudohomozygous familial hypercholesterolemia 210250|C537345||stsl C567309||scoliosis arachnodactyly and blindness C567308||c6 deficiency subtotal C567308||complement component 6 deficiency subtotal D009798||ocular hypertension D009798||glaucomas suspect D009798||glaucoma suspect D009798||hypertension ocular D009798||hypertensions ocular D009798||ocular hypertensions D009798||suspect glaucoma D009798||suspect glaucomas D008467||meckel diverticulum D008467||diverticulum meckel D008467||meckel apos s diverticulum D021441||carcinoma pancreatic ductal D021441||carcinoma ductal pancreatic D021441||carcinoma pancreas duct cell D021441||carcinomas pancreas duct cell D021441||carcinomas pancreatic ductal D021441||ductal carcinoma of the pancreas D021441||ductal carcinoma pancreatic D021441||ductal carcinomas pancreatic D021441||duct cell carcinoma of the pancreas D021441||duct cell carcinoma pancreas D021441||duct cell carcinomas pancreas D021441||pancreas duct cell carcinoma D021441||pancreas duct cell carcinomas D021441||pancreatic ductal carcinoma D021441||pancreatic ductal carcinomas D021441||pancreatic duct cell carcinoma D008476||mediastinal cyst D008476||cyst mediastinal D008476||cyst pericardial D008476||cysts mediastinal D008476||cysts pericardial D008476||cysts thoracic D008476||cysts thymic D008476||cysts tracheal D008476||cyst thoracic D008476||cyst thymic D008476||cyst tracheal D008476||mediastinal cysts D008476||pericardial cyst D008476||pericardial cysts D008476||thoracic cyst D008476||thoracic cysts D008476||thymic cyst D008476||thymic cysts D008476||tracheal cyst D008476||tracheal cysts D010787||photosensitivity disorders D010787||actinic dermatitides D010787||actinic dermatitides chronic D010787||actinic dermatitis D010787||actinic dermatitis chronic D010787||actinic reticuloid syndrome D010787||actinic reticuloid syndromes D010787||chronic actinic dermatitides D010787||chronic actinic dermatitis D010787||dermatitides actinic D010787||dermatitides chronic actinic D010787||dermatitis actinic D010787||dermatitis chronic actinic D010787||disorder photosensitivity D010787||disorders photosensitivity D010787||photodermatitides D010787||photodermatitis D010787||photosensitivity disorder D010787||photosensitization D010787||reticuloid syndrome actinic D010787||reticuloid syndromes actinic D010787||syndrome actinic reticuloid D010787||syndromes actinic reticuloid 155720|C536494||uveal melanoma 155720|C536494||melanoma of the uvea 155720|C536494||melanoma uveal 155720|C536494||melanoma uveal susceptibility to 1 155720|C536494||melanoma uveal susceptibility to 2 155720|C536494||uvm1 155720|C536494||uvm2 D008471||meconium aspiration syndrome D008471||aspiration meconium D008471||aspiration syndrome meconium D008471||meconium aspiration D008471||meconium inhalation D008471||syndrome meconium aspiration D018208|613488||liposarcoma myxoid D018208|613488||liposarcomas myxoid D018208|613488||myxoid liposarcoma D018208|613488||myxoid liposarcomas C567738|613115||neuropathy hereditary sensory and autonomic type iib C567738|613115||hsan2b D051299||post dural puncture headache D051299||headache postdural puncture D051299||headache post dural puncture D051299||headaches postdural puncture D051299||headaches post dural puncture D051299||postdural puncture headache D051299||postdural puncture headaches D051299||post dural puncture headaches D051299||post lumbar puncture headache D051298||post traumatic headache D051298||cervicogenic headache D051298||cervicogenic headaches D051298||headache cervicogenic D051298||headache post traumatic D051298||headaches cervicogenic D051298||headaches post traumatic D051298||post traumatic headaches C566506|609620||short qt syndrome 1 C566506|609620||sqt1 D019115||fasciitis necrotizing D019115||fasciitides necrotizing D019115||fascitides necrotizing D019115||fascitis necrotizing D019115||necrotizing fasciitides D019115||necrotizing fasciitis D019115||necrotizing fascitides D019115||necrotizing fascitis D014256|613229||trichotillomania D014256|613229||trichotillomanias D014256|613229||ttm 300635|C564469||lymphoproliferative syndrome x linked 2 300635|C564469||xiap deficiency 300635|C564469||xlp2 C566453|609706||deafness autosomal recessive 53 C566453|609706||dfnb53 C567311|612319||leukodystrophy dysmyelinating and spastic paraparesis with or without dystonia C567314||leukodystrophy hypomyelinating 6 C567314||leukodystrophy hypomyelinating with atrophy of the basal ganglia and cerebellum C567313||leukodystrophy hypomyelinating with hypodontia and hypogonadotropic hypogonadism C567313||ataxia delayed dentition and hypomyelination C567313||leukodystrophy hypomyelinating 7 C567313||leukoencephalopathy hypomyelinating with ataxia and delayed dentition 143460||5 hydroxytryptamine oxygenase regulator 143460||htor D008479||mediastinal neoplasms D008479||cancer mediastinal D008479||cancer mediastinum D008479||cancer of mediastinum D008479||cancer of the mediastinum D008479||cancers mediastinal D008479||cancers mediastinum D008479||mediastinal cancer D008479||mediastinal cancers D008479||mediastinal neoplasm D008479||mediastinum cancer D008479||mediastinum cancers D008479||mediastinum neoplasm D008479||mediastinum neoplasms D008479||neoplasm mediastinal D008479||neoplasm mediastinum D008479||neoplasms mediastinal D008479||neoplasms mediastinum D008478||mediastinal emphysema D008478||emphysema mediastinal D008478||emphysemas mediastinal D008478||mediastinal emphysemas D008478||pneumomediastinum C563417|600974||deafness autosomal recessive 7 C563417|600974||deafness autosomal recessive 11 C563417|600974||dfnb11 C563417|600974||dfnb7 D008477||mediastinal diseases D008477||disease mediastinal D008477||diseases mediastinal D008477||mediastinal disease D007153||immunologic deficiency syndromes D007153||antibody deficiency syndrome D007153||antibody deficiency syndromes D007153||deficiency syndrome antibody D007153||deficiency syndrome immunologic D007153||deficiency syndrome immunological D007153||deficiency syndromes antibody D007153||deficiency syndromes immunologic D007153||deficiency syndromes immunological D007153||immunological deficiency syndrome D007153||immunological deficiency syndromes D007153||immunologic deficiency syndrome D007153||syndrome antibody deficiency D007153||syndrome immunological deficiency D007153||syndrome immunologic deficiency D007153||syndromes antibody deficiency D007153||syndromes immunological deficiency D007153||syndromes immunologic deficiency D006712|236200||homocystinuria D006712|236200||cbs deficiencies D006712|236200||cbs deficiency D006712|236200||cbs deficiency hyperhomocysteinemia thrombotic cbs related included D006712|236200||cystathionine beta synthase deficiency D006712|236200||cystathionine beta synthase deficiency disease D006712|236200||deficiencies cbs D006712|236200||deficiency cbs D006712|236200||deficiency disease cystathionine beta synthase D006712|236200||homocystinuria due to cystathionine beta synthase deficiency D006712|236200||homocystinuria with or without response to pyridoxine D007154||immune system diseases D007154||disease immune D007154||disease immune system D007154||disease immunologic D007154||disease immunological D007154||diseases immune D007154||diseases immune system D007154||diseases immunologic D007154||diseases immunological D007154||diseases of immune system D007154||disorder immune D007154||disorders immune D007154||immune disease D007154||immune diseases D007154||immune disorder D007154||immune disorders D007154||immune system disease D007154||immunological disease D007154||immunological diseases D007154||immunologic disease D007154||immunologic diseases 609006||deafness autosomal recessive 36 with or without vestibular involvement 609006||deafness autosomal dominant without vestibular involvement included 225100||ectopia lentis 2 isolated autosomal recessive 225100||ectol2 D008480||mediastinitis D008480||inflammation mediastinum D008480||inflammations mediastinum D008480||mediastinitides D008480||mediastinum inflammation D008480||mediastinum inflammations D020210||central cord syndrome D020210||central cord injury syndrome D020210||central spinal cord syndrome 605429||deafness nonsyndromic modifier 1 605429||dfnm1 C536992|607151||moyamoya disease 2 C536992|607151||mymy2 D020217||vertebral artery dissection D020217||artery dissections vertebral D020217||artery dissection vertebral D020217||dissecting vertebral artery aneurysm D020217||dissections vertebral artery D020217||dissection vertebral artery D020217||spontaneous vertebral artery dissection D020217||traumatic vertebral artery dissection D020217||vertebral artery dissections D020217||vertebral artery dissection spontaneous D020217||vertebral artery dissection traumatic D020216||carotid cavernous sinus fistula D020216||carotid artery cavernous sinus fistula D020216||carotid cavernous sinus fistulas D020216||c c fistula D020216||c c fistulas D020216||fistula carotid artery cavernous sinus D020216||fistula carotid cavernous sinus D020216||fistula c c D020216||fistulas carotid cavernous sinus D020216||fistulas c c D020216||traumatic carotid cavernous sinus fistula D007238||infarction D007238||infarctions D020215||carotid artery internal dissection D020215||carotid artery dissection internal D020215||dissection internal carotid artery D020215||internal carotid artery dissection D007239||infection D007239||infections D008569||memory disorders D008569||age related memory disorder D008569||age related memory disorders D008569||cognitive retention disorder D008569||cognitive retention disorders D008569||deficit memory D008569||deficits memory D008569||memory deficit D008569||memory deficits D008569||memory disorder D008569||memory disorder age related D008569||memory disorders age related D008569||memory disorder semantic D008569||memory disorder spatial D008569||memory disorders semantic D008569||memory disorders spatial D008569||memory loss D008569||memory losses D008569||retention disorder cognitive D008569||retention disorders cognitive D008569||semantic memory disorder D008569||semantic memory disorders D008569||spatial memory disorder D008569||spatial memory disorders D020214||cerebrovascular trauma D020214||brain injury vascular D020214||brain vascular injury D020214||brain vascular trauma D020214||injury brain vascular D020214||injury vascular brain D020214||trauma brain vascular D020214||trauma cerebrovascular D020214||vascular brain injuries D020214||vascular brain injury D020214||vascular injury brain D020214||vascular trauma brain D020214||vascular traumas brain D020212||carotid artery injuries D020212||artery injuries carotid D020212||artery injury carotid D020212||artery trauma carotid D020212||carotid arteriopathies traumatic D020212||carotid arteriopathy traumatic D020212||carotid artery injury D020212||carotid artery trauma D020212||carotid false aneurysm D020212||carotid false aneurysms D020212||carotid pseudoaneurysm D020212||false aneurysm carotid D020212||injuries carotid artery D020212||injury carotid artery D020212||pseudoaneurysm carotid D020212||trauma carotid artery D020212||traumatic carotid arteriopathy C564248|608389||branchiootic syndrome 3 C564248|608389||bos3 C564248|608389||bo syndrome 3 D020211||autonomic dysreflexia D020211||autonomic dysreflexias D020211||autonomic dysreflexia spinal D020211||autonomic dysreflexias spinal D020211||autonomic hyperreflexia D020211||autonomic hyperreflexias D020211||dysreflexia autonomic D020211||dysreflexias autonomic D020211||dysreflexia spinal autonomic D020211||dysreflexias spinal autonomic D020211||hyperreflexia autonomic D020211||hyperreflexias autonomic D020211||spinal autonomic dysreflexia D020211||spinal autonomic dysreflexias D007235||infant premature diseases D009896||optic atrophy D009896||atrophy optic D008575||meniere disease D008575||auditory vertigo D008575||auditory vertigos D008575||aural vertigo D008575||disease meniere D008575||disease m 233 ni 232 re D008575||disease meniere apos s D008575||disease m 233 ni 232 re apos s D008575||diseases m 233 ni 232 re D008575||diseases m 233 ni 232 re apos s D008575||m 233 ni 232 re disease D008575||m 233 ni 232 re diseases D008575||meniere apos s disease D008575||menieres disease D008575||m 233 ni 232 re apos s disease D008575||m 233 ni 232 res disease D008575||m 233 ni 232 re apos s diseases D008575||meniere apos s syndrome D008575||menieres syndrome D008575||m 233 ni 232 re apos s vertigo D008575||m 233 ni 232 res vertigo D008575||m 233 ni 232 re apos s vertigos D008575||meniere syndrome D008575||m 233 ni 232 re vertigo D008575||otogenic vertigo D008575||otogenic vertigos D008575||syndrome meniere apos s D008575||vertigo auditory D008575||vertigo aural D008575||vertigo m 233 ni 232 re apos s D008575||vertigo otogenic D008575||vertigos auditory D008575||vertigos m 233 ni 232 re apos s D008575||vertigos otogenic D007244||infectious mononucleosis D007244||fever glandular D007244||glandular fever D007244||mononucleosis infectious D007241||infectious bovine rhinotracheitis D007241||bovine rhinotracheitides infectious D007241||bovine rhinotracheitis infectious D007241||infectious bovine rhinotracheitides D007241||rhinotracheitides infectious bovine D007241||rhinotracheitis infectious bovine 300623|C564105|C580109||fragile x tremor ataxia syndrome 300623|C564105|C580109||fxtas D000505|109200||alopecia D000505|109200||aga1 D000505|109200||alopecia androgenetic D000505|109200||alopecia androgenetic 1 D000505|109200||alopecia cicatrisata D000505|109200||alopecia cicatrisatas D000505|109200||alopecia male pattern D000505|109200||androgenetic alopecia D000505|109200||androgenetic alopecia aga baldness male pattern included D000505|109200||androgenic alopecia D000505|109200||baldness D000505|109200||baldness male pattern D000505|109200||cicatrisata alopecia D000505|109200||cicatrisatas alopecia D000505|109200||female pattern baldness D000505|109200||male pattern alopecia D000505|109200||male pattern baldness D000505|109200||mpb included D000505|109200||pattern baldness D000505|109200||pseudopelade C565467|243000||indifference to pain congenital autosomal recessive C565467|243000||asymbolia for pain C565467|243000||congenital analgesia autosomal recessive C565467|243000||insensitivity to pain channelopathy associated C557830||duplication 15q11 q13 syndrome C557830||15q11 2 microdeletion C557830||microdeletion 15q11 2 D019217||tooth attrition D019217||attrition dental D019217||attrition tooth D019217||dental attrition D019217||dental attritions D019217||occlusal wear D019217||occlusal wears D019217||wear occlusal D019217||wears occlusal D019214||gingival overgrowth D019214||gingival overgrowths D019214||overgrowth gingival D019214||overgrowths gingival C538006|224500||dystonia musculorum deformans type 2 C538006|224500||dystonia 2 torsion autosomal recessive C538006|224500||dystonia musculorum deformans 2 C538006|224500||dystonia torsion 2 autosomal recessive C538006|224500||dyt2 C538006|224500||torsion dystonia 2 C538006|224500||torsion dystonia 2 autosomal recessive type C536377|206800||anonychia congenita C536377|206800||anonychia C536377|206800||anonychia hyponychia congenita C536377|206800||anonychia totalis C536377|206800||hyponychia congenita C536377|206800||nail disorder nonsyndromic congenital 4 C536377|206800||ndnc4 608203|C564275||neutrophil immunodeficiency syndrome D020207||coma post head injury D020207||coma post concussive D020207||coma post trauma D020207||coma post traumatic D020207||coma post traumatic prolonged D020207||comas post concussive D020207||comas post head injury D020207||comas post trauma D020207||coma traumatic D020207||post concussive coma D020207||post concussive comas D020207||post head injury coma D020207||post head injury comas D020207||post trauma coma D020207||post trauma comas D020207||post traumatic coma D020207||traumatic coma D020206||subarachnoid hemorrhage traumatic D020206||hemorrhage post traumatic subarachnoid D020206||hemorrhages post traumatic subarachnoid D020206||hemorrhage traumatic subarachnoid D020206||post traumatic subarachnoid hemorrhage D020206||post traumatic subarachnoid hemorrhages D020206||subarachnoid hemorrhage post traumatic D020206||subarachnoid hemorrhages post traumatic D020206||subarachnoid hemorrhages traumatic D020206||traumatic subarachnoid hemorrhage D020206||traumatic subarachnoid hemorrhages D012555|181460||schistosomiasis mansoni D012555|181460||infection schistosoma mansoni D012555|181460||infections schistosoma mansoni D012555|181460||intestinal schistosomiases D012555|181460||intestinal schistosomiasis D012555|181460||schistosoma mansoni infection D012555|181460||schistosoma mansoni infections D012555|181460||schistosoma mansoni infection susceptibility resistance to D012555|181460||schistosoma mansoni intensity of infection by D012555|181460||schistosomiases intestinal D012555|181460||schistosomiasis intestinal D012555|181460||sm1 D020205||skull fracture basilar D020205||basilar skull fracture D020205||basilar skull fractures D020205||battle sign D020205||battle apos s sign D020205||battles sign D020205||fracture basilar skull D020205||fracture frontobasilar skull D020205||fractures basilar skull D020205||fractures frontobasilar skull D020205||frontobasilar skull fracture D020205||frontobasilar skull fractures D020205||sign battle D020205||sign battle apos s D020205||skull fracture basilar childhood D020205||skull fracture frontobasilar D020205||skull fractures basilar D020205||skull fractures frontobasilar D020205||skull fracture transphenoid basilar D007249||inflammation D007249||inflammations D020204||skull fracture depressed D020204||compound depressed skull fracture D020204||compound depressed skull fractures D020204||depressed skull fracture D020204||depressed skull fractures D020204||fracture depressed skull D020204||fractures depressed skull D020204||skull fracture compound depressed D020204||skull fractures compound depressed D020204||skull fractures depressed C567687|613237||focal segmental glomerulosclerosis 5 C567687|613237||fsgs5 C567687|613237||glomerulosclerosis focal segmental 5 D020203||brain stem hemorrhage traumatic D020203||brainstem hematomas traumatic D020203||brainstem hematoma traumatic D020203||brain stem hematoma traumatic D020203||brainstem hemorrhage post traumatic D020203||brain stem hemorrhage post traumatic D020203||brainstem hemorrhage traumatic D020203||bulbar hemorrhage traumatic D020203||hemorrhage brain stem traumatic D020203||hemorrhage post traumatic brainstem D020203||hemorrhage traumatic bulbar D020203||hemorrhage traumatic medullary D020203||medullary hemorrhage traumatic D020203||midbrain hemorrhage traumatic D020203||pontine hemorrhage traumatic D020203||post traumatic brainstem hemorrhage D020203||post traumatic brain stem hemorrhage D020203||traumatic brainstem hematoma D020203||traumatic brain stem hematoma D020203||traumatic brainstem hematomas D020203||traumatic brainstem hemorrhage D020203||traumatic brain stem hemorrhage D020203||traumatic bulbar hemorrhage D020203||traumatic medullary hemorrhage D020203||traumatic midbrain hemorrhage D020203||traumatic pontine hemorrhage D007247||infertility female D007247||female infertility D007247||female sterility D007247||female subfertility D007247||female sub fertility D007247||postpartum sterility D007247||sterility female D007247||sterility postpartum D007247||subfertility female D007247||sub fertility female D008579||meningioma D008579||angioblastic meningioma D008579||angioblastic meningiomas D008579||angiomatous meningioma D008579||angiomatous meningiomas D008579||benign meningioma D008579||benign meningiomas D008579||cerebral convexity meningioma D008579||cerebral convexity meningiomas D008579||clear cell meningioma D008579||clear cell meningiomas D008579||convexity meningioma cerebral D008579||convexity meningiomas cerebral D008579||fibrous meningioma D008579||fibrous meningiomas D008579||groove meningiomas olfactory D008579||hemangioblastic meningioma D008579||hemangioblastic meningiomas D008579||hemangiopericytic meningioma D008579||hemangiopericytic meningiomas D008579||intracranial meningioma D008579||intracranial meningiomas D008579||intraorbital meningioma D008579||intraorbital meningiomas D008579||intraventricular meningioma D008579||intraventricular meningiomas D008579||malignant meningioma D008579||malignant meningiomas D008579||meningioma angioblastic D008579||meningioma angiomatous D008579||meningioma benign D008579||meningioma cerebral convexity D008579||meningioma clear cell D008579||meningioma fibrous D008579||meningioma hemangioblastic D008579||meningioma hemangiopericytic D008579||meningioma intracranial D008579||meningioma intraorbital D008579||meningioma intraventricular D008579||meningioma malignant D008579||meningioma meningotheliomatous D008579||meningioma microcystic D008579||meningioma multiple D008579||meningioma olfactory groove D008579||meningioma papillary D008579||meningioma parasagittal D008579||meningioma posterior fossa D008579||meningioma psammomatous D008579||meningiomas D008579||meningiomas angioblastic D008579||meningiomas angiomatous D008579||meningiomas benign D008579||meningiomas cerebral convexity D008579||meningiomas clear cell D008579||meningioma secretory D008579||meningiomas fibrous D008579||meningiomas hemangioblastic D008579||meningiomas hemangiopericytic D008579||meningiomas intracranial D008579||meningiomas intraorbital D008579||meningiomas intraventricular D008579||meningiomas malignant D008579||meningiomas meningotheliomatous D008579||meningiomas microcystic D008579||meningiomas multiple D008579||meningiomas olfactory groove D008579||meningiomas papillary D008579||meningiomas parasagittal D008579||meningioma sphenoid wing D008579||meningioma spinal D008579||meningiomas posterior fossa D008579||meningiomas psammomatous D008579||meningiomas secretory D008579||meningiomas sphenoid wing D008579||meningiomas spinal D008579||meningiomas transitional D008579||meningiomas xanthomatous D008579||meningiomatoses D008579||meningiomatosis D008579||meningioma transitional D008579||meningioma xanthomatous D008579||meningotheliomatous meningioma D008579||meningotheliomatous meningiomas D008579||microcystic meningioma D008579||microcystic meningiomas D008579||multiple meningioma D008579||multiple meningiomas D008579||olfactory groove meningioma D008579||olfactory groove meningiomas D008579||papillary meningioma D008579||papillary meningiomas D008579||parasagittal meningioma D008579||parasagittal meningiomas D008579||posterior fossa meningioma D008579||posterior fossa meningiomas D008579||psammomatous meningioma D008579||psammomatous meningiomas D008579||secretory meningioma D008579||secretory meningiomas D008579||sphenoid wing meningioma D008579||sphenoid wing meningiomas D008579||spinal meningioma D008579||spinal meningiomas D008579||transitional meningioma D008579||transitional meningiomas D008579||wing meningioma sphenoid D008579||wing meningiomas sphenoid D008579||xanthomatous meningioma D008579||xanthomatous meningiomas D020202||cerebral hemorrhage traumatic D020202||brain hemorrhage cerebral traumatic D020202||cerebral hematomas traumatic D020202||cerebral hematoma traumatic D020202||cerebral hemorrhages traumatic D020202||cerebral intraparenchymal hematoma traumatic D020202||cerebral intraparenchymal hemorrhage traumatic D020202||cerebral parenchymal hemorrhage traumatic D020202||hematomas traumatic cerebral D020202||hematoma traumatic cerebral D020202||hemorrhages traumatic cerebral D020202||hemorrhages traumatic intracerebral D020202||hemorrhage traumatic cerebral D020202||hemorrhage traumatic intracerebral D020202||intracerebral hemorrhages traumatic D020202||intracerebral hemorrhage traumatic D020202||traumatic cerebral hematoma D020202||traumatic cerebral hematomas D020202||traumatic cerebral hemorrhage D020202||traumatic cerebral hemorrhages D020202||traumatic cerebral intraparenchymal hematoma D020202||traumatic cerebral intraparenchymal hemorrhage D020202||traumatic cerebral parenchymal hemorrhage D020202||traumatic intracerebral hemorrhage D020202||traumatic intracerebral hemorrhages D007248||infertility male D007248||male infertility D007248||male sterility D007248||male subfertility D007248||male sub fertility D007248||sterility male D007248||subfertility male D007248||sub fertility male D020201||brain hemorrhage traumatic D020201||brain hemorrhages traumatic D020201||cerebellar hemorrhages traumatic D020201||cerebellar hemorrhage traumatic D020201||hemorrhages traumatic cerebellar D020201||hemorrhage traumatic brain D020201||hemorrhage traumatic cerebellar D020201||traumatic brain hemorrhage D020201||traumatic brain hemorrhages D020201||traumatic cerebellar hemorrhage D020201||traumatic cerebellar hemorrhages C567690|613227||cerebellar ataxia mental retardation and dysequilibrium syndrome 3 C567690|613227||camrq3 C567690|613227||cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 D008577||meningeal neoplasms D008577||benign meningeal neoplasm D008577||benign meningeal neoplasms D008577||cancer meningeal D008577||cancers meningeal D008577||intracranial meningeal neoplasm D008577||intracranial meningeal neoplasms D008577||leptomeningeal neoplasm D008577||leptomeningeal neoplasms D008577||malignant meningeal neoplasm D008577||malignant meningeal neoplasms D008577||meningeal cancer D008577||meningeal cancers D008577||meningeal neoplasm D008577||meningeal neoplasm benign D008577||meningeal neoplasm intracranial D008577||meningeal neoplasm malignant D008577||meningeal neoplasms benign D008577||meningeal neoplasms intracranial D008577||meningeal neoplasms malignant D008577||meningeal neoplasm spinal D008577||meningeal neoplasms spinal D008577||meningeal tumor D008577||meningeal tumors D008577||neoplasm benign meningeal D008577||neoplasm intracranial meningeal D008577||neoplasm leptomeningeal D008577||neoplasm malignant meningeal D008577||neoplasm meningeal D008577||neoplasms benign meningeal D008577||neoplasms intracranial meningeal D008577||neoplasms leptomeningeal D008577||neoplasms malignant meningeal D008577||neoplasms meningeal D008577||neoplasm spinal meningeal D008577||neoplasms spinal meningeal D008577||spinal meningeal neoplasm D008577||spinal meningeal neoplasms D008577||tumor meningeal D008577||tumors meningeal D020200||hematoma subdural chronic D020200||chronic subdural hematoma D020200||chronic subdural hematomas D020200||hematoma chronic subdural D020200||hematomas chronic subdural D020200||hemorrhage subdural chronic D020200||subdural hematoma chronic D020200||subdural hematomas chronic D007246||infertility D007246||reproductive sterility D007246||sterility D007246||sterility reproductive D007246||subfertility D007246||sub fertility D022861||hermanski pudlak syndrome D022861||hermansky pudlak syndrome D008586||meningitis pneumococcal D008586||experimental pneumococcal meningitides D008586||experimental pneumococcal meningitis D008586||meningitides streptococcus pneumoniae D008586||meningitis experimental pneumococcal D008586||meningitis pneumococcal experimental D008586||meningitis pneumococcal penicillin resistant D008586||meningitis pneumococcal recurrent D008586||meningitis streptococcus pneumoniae D008586||pneumococcal meningitides D008586||pneumococcal meningitides experimental D008586||pneumococcal meningitis D008586||pneumococcal meningitis experimental D008586||streptococcus pneumoniae meningitides D008586||streptococcus pneumoniae meningitis D008585||meningitis meningococcal D008585||meningitis meningococcal serogroup a D008585||meningitis meningococcal serogroup b D008585||meningitis meningococcal serogroup c D008585||meningitis meningococcal serogroup w135 D008585||meningitis meningococcal serogroup w 135 D008585||meningitis meningococcal serogroup y D008585||meningitis meningococcic D008585||meningococcal meningitis D008585||meningococcal meningitis serogroup a D008585||meningococcal meningitis serogroup b D008585||meningococcal meningitis serogroup c D008585||meningococcal meningitis serogroup w135 D008585||meningococcal meningitis serogroup w 135 D008585||meningococcal meningitis serogroup y D008585||serogroup a meningococcal meningitis D008585||serogroup b meningococcal meningitis D008585||serogroup c meningococcal meningitis D008585||serogroup w 135 meningococcal meningitis D008585||serogroup w135 meningococcal meningitis D008585||serogroup y meningococcal meningitis D008584||meningitis listeria D008584||cerebritides listeria D008584||cerebritis listeria D008584||listeria cerebritides D008584||listeria cerebritis D008584||listeria meningitides D008584||listeria meningitis D008584||listeria meningoencephalitides D008584||listeria meningoencephalitis D008584||listeria monocytogenes meningitides D008584||listeria monocytogenes meningitis D008584||meningitides listeria D008584||meningitides listeria monocytogenes D008584||meningitis listeria monocytogenes D008584||meningoencephalitides listeria D008584||meningoencephalitis listeria D008583||meningitis haemophilus D008583||haemophilus influenzae meningitis type b D008583||haemophilus meningitides D008583||haemophilus meningitis D008583||haemophilus parainfluenzae meningitides D008583||haemophilus parainfluenzae meningitis D008583||hemophilus influenzae meningitis type b D008583||hemophilus meningitides D008583||hemophilus meningitis D008583||hib meninigitis D008583||meningitides haemophilus D008583||meningitides haemophilus parainfluenzae D008583||meningitides hemophilus D008583||meningitis haemophilus influenzae type f D008583||meningitis haemophilus parainfluenzae D008583||meningitis hemophilus D008583||meningitis hemophilus influenzae type b D008583||meningitis hemophilus influenzae type f D008583||meninigitis hib D008583||type b haemophilus influenzae meningitis D008583||type b hemophilus influenzae meningitis D010899||pituitary apoplexy D010899||apoplexy pituitary D008582||meningitis aseptic D008582||aseptic meningitis C557821||orofaciodigital syndrome 11 C557821||gabrielli syndrome C557821||ofd11 C557821||ofds xi C557821||oral facial digital syndrome 11 C557821||oral facial digital syndrome type xi C557821||oral facial digital syndrome with skeletal anomalies C557821||orofaciodigital syndrome xi D007251||influenza human D007251||flu human D007251||grippe D007251||human flu D007251||human influenza D007251||human influenzas D007251||influenza D007251||influenza in human D007251||influenza in humans D007251||influenzas D007251||influenzas human D008581||meningitis D008581||meningitides D008581||pachymeningitides D008581||pachymeningitis C557820||orofaciodigital syndrome 8 C557820||oral facial digital syndrome 8 C557820||orofaciodigital syndrome viii D020209||cranial nerve injuries D020209||cranial nerve injury D020209||cranial neuropathies traumatic D020209||cranial neuropathy traumatic D020209||injuries cranial nerve D020209||injury cranial nerve D020209||nerve injuries cranial D020209||nerve injury cranial D020209||neuropathies traumatic cranial D020209||neuropathy traumatic cranial D020209||traumatic cranial neuropathies D020209||traumatic cranial neuropathy D008580||meningism D008580||dupre apos s syndrome D008580||dupres syndrome D008580||dupre syndrome D008580||meningisms D008580||meningismus D008580||meningitis like reaction D008580||meningitis like reactions D008580||pseudomeningitides D008580||pseudomeningitis D008580||reaction meningitis like D008580||reactions meningitis like D008580||syndrome dupre D008580||syndrome dupre apos s D020208||brain injury chronic D020208||brain injuries chronic D020208||chronic brain injuries D020208||chronic brain injury D020208||chronic encephalopathies post concussive D020208||chronic encephalopathy post concussive D020208||chronic post concussive encephalopathies D020208||chronic post concussive encephalopathy D020208||chronic post traumatic encephalopathies D020208||chronic post traumatic encephalopathy D020208||chronic traumatic encephalopathy D020208||encephalopathies chronic post concussive D020208||encephalopathies chronic post traumatic D020208||encephalopathies post concussive chronic D020208||encephalopathy chronic post concussive D020208||encephalopathy chronic post traumatic D020208||encephalopathy chronic traumatic D020208||encephalopathy post concussive chronic D020208||encephalopathy post traumatic chronic D020208||injury brain chronic D020208||post concussive chronic encephalopathies D020208||post concussive chronic encephalopathy D020208||post concussive encephalopathies chronic D020208||post concussive encephalopathy chronic D020208||post traumatic encephalopathies chronic D020208||post traumatic encephalopathy chronic D020208||traumatic encephalopathies chronic D020208||traumatic encephalopathy chronic D019226||oral ulcer D019226||mouth ulcer D019226||mouth ulcers D019226||oral ulcers D019226||ulcer mouth D019226||ulcer oral D019226||ulcers mouth D019226||ulcers oral C567186|158330||mullerian aplasia and hyperandrogenism C567186|158330||mullerian duct failure and hyperandrogenism D009879||ophthalmia sympathetic D009879||ophthalmias sympathetic D009879||sympathetic ophthalmia D009879||sympathetic ophthalmias D009879||sympathetic uveitides D009879||sympathetic uveitis D009879||uveitides sympathetic D009879||uveitis sympathetic D008548||melanosis D008548||chloasma D008548||chloasmas D008548||freckle D008548||freckles D008548||melanism D008548||melanoses D008548||melasma D008548||melasmas 611131|C567005||retinitis pigmentosa 37 611131|C567005||rp37 D009878||ophthalmia neonatorum D009877||endophthalmitis D009877||endophthalmitides D009877||endophthalmitides infectious D009877||endophthalmitis infectious D009877||infectious endophthalmitides D009877||infectious endophthalmitis D009877||ophthalmia D009877||ophthalmias D008546||melanoma experimental D008546||b16 melanoma D008546||b16 melanomas D008546||cloudman s91 melanoma D008546||experimental melanoma D008546||experimental melanomas D008546||harding passey melanoma D008546||melanoma b16 D008546||melanoma cloudman s91 D008546||melanoma harding passey D008546||melanomas b16 D008546||melanomas experimental D008546||s91 melanoma cloudman D008545||melanoma D008545||malignant melanoma D008545||malignant melanomas D008545|155600||melanoma malignant D008545||melanomas D008545||melanomas malignant 263200|D017044||polycystic kidney autosomal recessive 263200|D017044||arpkd 263200|D017044||autosomal recessive polycystic kidney 263200|D017044||autosomal recessive polycystic kidney disease 263200|D017044||kidney polycystic autosomal recessive 263200|D017044||pkd3 formerly hepatic fibrosis congenital included 263200|D017044||pkhd1 263200|D017044||polycystic kidney and hepatic disease 1 263200|D017044||polycystic kidney and hepatic disease 1 autosomal recessive 263200|D017044||polycystic kidney disease autosomal recessive 263200|D017044||polycystic kidney disease infantile type 1 263200|D017044||polycystic kidney disease infantile type i D002636|118400||cherubism D002636|118400||crbm D002636|118400||familial benign giant cell tumor of the jaw D002636|118400||familial fibrous dysplasia of jaw D002636|118400||familial multilocular cystic disease of the jaws D007222||inert gas narcosis D007222||depth intoxication D007222||depth intoxications D007222||inert gas narcoses D007222||intoxication depth D007222||intoxications depth D007222||narcoses inert gas D007222||narcoses nitrogen D007222||narcosis inert gas D007222||narcosis nitrogen D007222||nitrogen narcoses D007222||nitrogen narcosis D010864||pilonidal sinus D010864||cyst pilonidal D010864||cysts pilonidal D010864||pilonidal cyst D010864||pilonidal cysts D010864||sinus pilonidal D008551||melena D008551||melenas C565185|610756||cerebrooculofacioskeletal syndrome 2 C565185|610756||cofs2 C562710|610549||diabetes mellitus insulin resistant with acanthosis nigricans C562710|610549||diabetes mellitus insulin resistant with acanthosis nigricans type a C562710|610549||insulin receptor defect in with insulin resistant diabetes mellitus and acanthosis nigricans C562710|610549||insulin receptor defect with insulin resistant diabetes mellitus and acanthosis nigricans C562710|610549||iran type a C537285|601853||gomez lopez hernandez syndrome C537285|601853||cerebellotrigeminal dermal dysplasia C537285|601853||cerebello trigeminal dermal dysplasia C537285|601853||glh syndrome C535479|610158||corneal dystrophy fuchs apos endothelial 2 C535479|610158||corneal dystrophy fuchs endothelial 2 C535479|610158||corneal dystrophy fuchs apos endothelial late onset C535479|610158||fcd1 locus C535479|610158||fecd2 C535479|610158||fuchs apos endothelial corneal dystrophy 2 C535479|610158||late onset fuchs apos endothelial corneal dystrophy D007228||infant nutrition disorders D007228||infantile malnutrition D007228||infant malnutrition D007228||infant nutrition disorder D007228||infant overnutrition D007228||malnutrition infant D007228||malnutrition infantile D007228||malnutrition in infant D007228||malnutrition in infants D007228||nutrition disorder infant D007228||nutrition disorders infant D007228||overnutrition infant D009889||opisthorchiasis D009889||opisthorchiases D009886||ophthalmoplegia D009886||external ophthalmoplegia D009886||external ophthalmoplegias D009886||internal ophthalmoplegia D009886||internal ophthalmoplegias D009886||oculomotor paralysis D009886||ophthalmopareses D009886||ophthalmoparesis D009886||ophthalmoplegia external D009886||ophthalmoplegia internal D009886||ophthalmoplegias D009886||ophthalmoplegias external D009886||ophthalmoplegias internal D009886||paralysis oculomotor C538339|161550||nasopharyngeal carcinoma C538339|161550||nasopharyngeal cancer nasopharyngeal carcinoma susceptibility to 1 included C538339|161550||nasopharyngeal carcinoma susceptibility to 2 C538339|161550|D052556|257220||npc C538339|161550||npca C538339|161550||npca1 included C538339|161550||npca2 D008554||melioidosis D008554||melioidoses D007232||infant newborn diseases D009894||opportunistic infections D009894||infection opportunistic D009894||infections opportunistic D009894||opportunistic infection D006849|236600||hydrocephalus D006849|236600||aqueductal stenoses D006849|236600||aqueductal stenosis D006849|236600||cerebral ventriculomegalies D006849|236600||cerebral ventriculomegalies fetal D006849|236600||cerebral ventriculomegaly D006849|236600||cerebral ventriculomegaly fetal D006849|236600||communicating hydrocephalus D006849|236600||congenital hydrocephalus D006849|236600||fetal cerebral ventriculomegalies D006849|236600||fetal cerebral ventriculomegaly D006849|236600||hyc1 D006849|236600||hydrocephalus communicating D006849|236600||hydrocephalus congenital D006849|236600||hydrocephalus ex vacuo D006849|236600||hydrocephalus ex vacuos D006849|236600||hydrocephalus nonsyndromic autosomal recessive 1 D006849|236600||hydrocephalus obstructive D006849|236600||hydrocephalus post traumatic D006849|236600||hydrocephaly D006849|236600||obstructive hydrocephalus D006849|236600||post traumatic hydrocephalus D006849|236600||stenoses aqueductal D006849|236600||stenosis aqueductal D006849|236600||ventriculomegalies cerebral D006849|236600||ventriculomegalies fetal cerebral D006849|236600||ventriculomegaly D006849|236600||ventriculomegaly cerebral D006849|236600||ventriculomegaly fetal cerebral D010874||pinta 125490|D003811||dentinogenesis imperfecta 125490|D003811||dentinogenesis imperfectas 125490|D003811||dentinogenesis imperfecta shields type 2 125490|D003811||dentinogenesis imperfecta without osteogenesis imperfecta 125490|D003811||dgi1 125490|D003811||dgi ii 125490|D003811||hereditary opalescent dentin 125490|D003811||hereditary opalescent dentins 125490|D003811||imperfecta dentinogenesis 125490|D003811||imperfectas dentinogenesis 125490|D003811||opalescent dentin hereditary 125490|D003811||opalescent dentins hereditary 125490|D003811||opalescent teeth without osteogenesis imperfecta D010871||pinealoma D010871||mixed pineocytoma pineoblastoma D010871||mixed pineocytoma pineoblastomas D010871||neoplasm pineal D010871||neoplasms pineal D010871||pineal gland tumor D010871||pineal gland tumors D010871||pineal neoplasm D010871||pineal neoplasms D010871||pinealocytoma D010871||pinealocytomas D010871||pinealomas D010871||pineal parenchymal tumor D010871||pineal parenchymal tumors D010871||pineal tumor D010871||pineal tumors D010871||pineoblastoma D010871||pineoblastomas D010871||pineocytoma D010871||pineocytoma pineoblastoma mixed D010871||pineocytoma pineoblastomas mixed D010871||pineocytomas D010871||tumor pineal D010871||tumor pineal gland D010871||tumor pineal parenchymal D010871||tumors pineal D010871||tumors pineal gland D010871||tumors pineal parenchymal C563980|605724||fanconi anemia complementation group d1 C563980|605724||fad1 C563980|605724||fancd1 C562397||hymen imperforate D021501||flank pain D021501||flank pain left D021501||flank pain right D021501||flank pains D021501||flank pains left D021501||flank pains right D021501||left flank pain D021501||left flank pains D021501||pain flank D021501||pain left flank D021501||pain right flank D021501||pains flank D021501||pains left flank D021501||pains right flank D021501||right flank pain D021501||right flank pains C563384|601154||cardiomyopathy dilated 1e C563384|601154||cardiomyopathy dilated with conduction defect 2 C563384|601154||cardiomyopathy dilated with conduction disorder and arrhythmia C563384|601154||cdcd2 C563384|601154||cmd1e 106100|D054179||angioedemas hereditary 106100|D054179||angioedema hereditary 106100|D054179|D056829||angioedema hereditary type i 106100|D054179||angioneurotic edema hereditary 106100|D054179||angioneurotic edemas hereditary 106100|D054179||c1 esterase inhibitor deficiency 106100|D054179||c1 esterase inhibitor deficiency of angioedema hereditary type ii included 106100|D054179||c1 inhibitor deficiency 106100|D054179||edema hereditary angioneurotic 106100|D054179||edemas hereditary angioneurotic 106100|D054179||hae1 106100|D054179||hae2 included 106100|D054179||hane 106100|D054179||hereditary angioedema 106100|D054179||hereditary angioedemas 106100|D054179||hereditary angioneurotic edema 106100|D054179||hereditary angioneurotic edemas C562398||madelung deformity C562399||corneal dystrophy band shaped C562399||band keratopathy C536101|600462||myopathy with lactic acidosis and sideroblastic anemia C536101|600462||mitochondrial myopathy and sideroblastic anemia C536101|600462||mlasa C536101|600462||mlasa1 C536101|600462||mlasa2 C536101|600462||myopathy lactic acidosis and sideroblastic anemia 1 C536101|600462||myopathy lactic acidosis and sideroblastic anemia 2 D015319|229700||fructose 1 6 diphosphatase deficiency D015319|229700||deficiencies fructose 1 6 bisphosphatase D015319|229700||deficiencies fructose 1 6 diphosphatase D015319|229700||deficiencies fructose biphosphatase D015319|229700||deficiencies fructosediphosphatase D015319|229700||deficiencies hexosediphosphatase D015319|229700||deficiency fructose 1 6 bisphosphatase D015319|229700||deficiency fructose 1 6 diphosphatase D015319|229700||deficiency fructose biphosphatase D015319|229700||deficiency fructosediphosphatase D015319|229700||deficiency hexosediphosphatase D015319|229700||fructose 1 6 bisphosphatase deficiencies D015319|229700||fructose 1 6 bisphosphatase deficiency D015319|229700||fructose 1 6 diphosphatase deficiencies D015319|229700||fructose biphosphatase deficiencies D015319|229700||fructose biphosphatase deficiency D015319|229700||fructosediphosphatase deficiencies D015319|229700||fructosediphosphatase deficiency D015319|229700||hexosediphosphatase deficiencies D015319|229700||hexosediphosphatase deficiency D009855||onchocerciasis D009855||onchocerciases D044225||piscirickettsiaceae infections D044225||piscirickettsiaceae infection D044225||piscirickettsioses D044225||piscirickettsiosis C537311|606937||spinocerebellar ataxia autosomal recessive 5 C537311|606937||camos C537311|606937||cerebellar ataxia with mental retardation optic atrophy and skin abnormalities C537311|606937||scar5 D008531||megacolon D008531||megacolons C567381|612255||inflammatory bowel disease 15 C567381|612255||ibd15 D010842||pica D010842||geophagia D010845||obesity hypoventilation syndrome D010845||hypoventilation syndrome obesity D010845||pickwickian syndrome D010845||syndrome obesity hypoventilation D010845||syndrome pickwickian D058866||osteoporotic fractures D058866||fracture osteoporotic D058866||fractures osteoporotic D058866||osteoporotic fracture C536925|609428||tukel syndrome C536925|609428||cfeom u C536925|609428||congenital extraocular muscle fibrosis with ulnar hand anomalies C536925|609428||fibrosis of extraocular muscles congenital with ulnar hand anomalies D037081||posterior tibial tendon dysfunction D037081||dysfunction tibialis posterior D037081||posterior tibial tendon insufficiency D037081||tibialis posterior dysfunction D037081||tibial tendon dysfunction posterior C563900|608586||keratoconus 3 C563900|608586||ktcn3 138800||goiter multinodular 1 with or without sertoli leydig cell tumors 138800|C562732||euthyroid goiter 138800||goiter nontoxic with intrathyroidal calcification 138800||mng1 138800||multinodular goiter adolescent 138800||simple goiter C566917|611556||glycogen storage disease 0 muscle C566917|611556||gsd 0b C566917|611556||gsd0b C566917|611556||muscle glycogen storage disease 0 C566917|611556||muscle glycogen synthase deficiency D010859||pigmentation disorders D010859||disease schamberg D010859||disease schamberg apos s D010859||disorder pigmentation D010859||disorders pigmentation D010859|300337||incontinentia pigmenti achromians D010859||ito syndrome D010859||pigmentation disorder D010859||schamberg disease D010859||schamberg apos s disease D010859||schambergs disease D010859||syndrome ito D008539||meigs syndrome D008539||meig apos s syndrome D008539||meigs apos syndrome D008539||meig syndrome D009869||oophoritis D009869||oophoritides D008538||meige syndrome D008538||blepharospasm oromandibular dyskinesia D008538||blepharospasm oromandibular dyskinesias D008538||blepharospasm oromandibular dystonia D008538||blepharospasm oromandibular dystonias D008538||blepharospasm oromandibular dystonia syndrome D008538||blepharospasm oromandibular dystonia syndrome idiopathic D008538||blepharospasm oromandibular dystonia syndromes D008538||brueghel syndrome D008538||dyskinesia blepharospasm oromandibular D008538||dyskinesia idiopathic orofacial D008538||dyskinesias blepharospasm oromandibular D008538||dyskinesias idiopathic orofacial D008538||dystonia blepharospasm oromandibular D008538||dystonias blepharospasm oromandibular D008538||dystonia syndrome blepharospasm oromandibular D008538||dystonia syndromes blepharospasm oromandibular D008538||idiopathic blepharospasm oromandibular dystonia syndrome D008538||idiopathic orofacial dyskinesia D008538||idiopathic orofacial dyskinesias D008538||orofacial dyskinesia idiopathic D008538||orofacial dyskinesias idiopathic D008538||syndrome blepharospasm oromandibular dystonia 145750|D006953||hyperlipoproteinemia type iv 145750|D006953||carbohydrate inducible hyperlipemia 145750|D006953||carbohydrate inducible hyperlipemias 145750|D006953||familial hyperlipoproteinemia type 4 145750|D006953||familial hypertriglyceridemia 145750|D006953||familial type iv hyperlipoproteinemia 145750|D006953||hyperlipemia carbohydrate inducible 145750|D006953||hyperlipemias carbohydrate inducible 145750|D006953||hyperlipoproteinemias type iv 145750|D006953||hyperprebetalipoproteinemia 145750|D006953||hyper prebeta lipoproteinemia 145750|D006953||hypertriglyceridemia familial 145750|D006953||inducible hyperlipemia carbohydrate 145750|D006953||inducible hyperlipemias carbohydrate 145750|D006953||type iv hyperlipoproteinemia 145750|D006953||type iv hyperlipoproteinemias D008532||megacolon toxic D008532||toxic megacolon D010850||picornaviridae infections D010850||infection picornaviridae D010850||infection picornavirus D010850||infections picornaviridae D010850||infections picornavirus D010850||picornaviridae infection D010850||picornavirus infection D010850||picornavirus infections C548086||stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features C564688|606640||amyotrophic lateral sclerosis 3 C564688|606640||als3 D010854||piedra D010854||black piedra D010854||black piedras D010854||piedra black D010854||piedras D010854||piedras black D010854||piedras white D010854||piedra white D010854||white piedra D010854||white piedras C536832|610015||glutamine deficiency congenital C536832|610015||glutamine synthase deficiency congenital systemic C536832|610015||glutamine synthetase deficiency congenital systemic D008556|155900||melkersson rosenthal syndrome D008556|155900||cheilitis granulomatosa D008556|155900||cheilitis granulomatosa facial neuropathy orofacial edema D008556|155900||cheilitis granulomatosa orofacial edema facial neuropathy D008556|155900||cheilitis miescher melkersson rosenthal granulomatous D008556|155900||facial neuropathy cheilitis granulomatosa orofacial edema D008556|155900||facial neuropathy orofacial edema cheilitis granulomatosa D008556|155900||granulomatous cheilitis D008556|155900||granulomatous cheilitis miescher melkersson rosenthal D008556|155900||macrocheilia facial palsy edema D008556|155900||melkerson rosenthal syndrome D008556|155900||melkersson rosenthal miescher syndrome D008556|155900||melkersson syndrome D008556|155900||miescher melkersson rosenthal granulomatous cheilitis D008556|155900||mros D008556|155900||mrs D008556|155900||orofacial edema cheilitis granulomatosa facial neuropathy D008556|155900||orofacial edema facial neuropathy cheilitis granulomatosa D008556|155900||rosenthal melkerson syndrome D008556|155900||rosenthal melkersson syndrome D008556|155900||syndrome melkerson rosenthal 606711||specific language impairment 1 606711||sli1 606711||specific language impairment quantitative trait locus on chromosome 16 D034801||mastocytoma D034801||benign mastocytoma D034801||extracutaneous mastocytoma D034801||extracutaneous mastocytomas D034801||mastocytoma benign D034801||mastocytoma extracutaneous D034801||mastocytomas extracutaneous C548085||progressive transformation of germinal centers 606712||specific language impairment 2 606712||sli2 606712||specific language impairment quantitative trait locus on chromosome 19 C567548|612858||orofacial cleft 12 C567548|612858||cleft lip with or without cleft palate nonsyndromic 12 C567548|612858||ofc12 C562378||hepatic fibrosis congenital C562379||dermatosis papulosa nigra D009839||oligomenorrhea D009839||oligomenorrheas C562377||glutamate monosodium sensitivity C562377||chinese restaurant syndrome D009837||oligodendroglioma D009837||adult oligodendroglioma D009837||adult oligodendrogliomas D009837||anaplastic oligodendroglioma D009837||anaplastic oligodendrogliomas D009837||childhood oligodendroglioma D009837||childhood oligodendrogliomas D009837||mixed oligodendroglioma astrocytoma D009837||mixed oligodendroglioma astrocytomas D009837||mixed oligodendroglioma ependymoma D009837||mixed oligodendroglioma ependymomas D009837||oligodendroblastoma D009837||oligodendroblastomas D009837||oligodendroglioma adult D009837||oligodendroglioma anaplastic D009837||oligodendroglioma astrocytoma mixed D009837||oligodendroglioma astrocytomas mixed D009837||oligodendroglioma childhood D009837||oligodendroglioma ependymoma mixed D009837||oligodendroglioma ependymomas mixed D009837||oligodendrogliomas D009837||oligodendrogliomas adult D009837||oligodendrogliomas anaplastic D009837||oligodendrogliomas childhood D009837||oligodendrogliomas well differentiated D009837||oligodendroglioma well differentiated D009837||well differentiated oligodendroglioma D009837||well differentiated oligodendrogliomas C565287|605818||deafness autosomal recessive 27 C565287|605818||dfnb27 D056929|177200||liddle syndrome D056929|177200||pseudoaldosteronism D056929|177200||syndrome liddle C566505|609621||short qt syndrome 2 C566505|609621||sqt2 211400|C567618||bronchiectasis with or without elevated sweat chloride 1 211400|C567618||besc1 211400|C567618|C567772|613071|C567813|613021||cystic fibrosis like syndrome C557819||orofaciodigital syndrome 5 C557819||oral facial digital syndrome 5 C557819||oral facial digital syndrome type v C557819||orofaciodigital syndrome thurston type C557819||orofaciodigital syndrome v C557819||polydactyly postaxial with median cleft of upper lip C557819||thurston syndrome C557818||orofaciodigital syndrome 9 C557818||ofd9 C557818||ofds ix C557818||oral facial digital syndrome 9 C557818||oral facial digital syndrome type ix C557818||oral facial digital syndrome with retinal abnormalities C557818||orofaciodigital syndrome ix C557818||orofaciodigital syndrome type 9 C557818||orofaciodigital syndrome with retinal abnormalities C557817||orofaciodigital syndrome 3 C557817||brachydactyly of the hands and feet with duplication of the first toes C557817||brachydactyly with major proximal phalangeal shortening C557817||ofds iii C557817||oral facial digital syndrome 3 C557817||oral facial digital syndrome type iii C557817||orofaciodigital syndrome iii C557817||sugarman brachydactyly C557817||sugarman syndrome C557815||deficiency of interleukin 1 receptor antagonist C567642|613327||lipodystrophy congenital generalized type 4 C567642|613327||berardinelli seip congenital lipodystrophy type 4 with muscular dystrophy C567642|613327||cgl4 C567642|613327||lipodystrophy berardinelli seip congenital type 4 with muscular dystrophy D037061||metatarsalgia C562384||branchial cleft anomalies D009849||olivopontocerebellar atrophies D009849||ataxia presenile D009849||ataxias presenile D009849||atrophy familial olivopontocerebellar D009849||atrophy idiopathic olivopontocerebellar D009849||atrophy inherited olivopontocerebellar D009849||atrophy nonfamilial olivopontocerebellar D009849||atrophy olivopontocerebellar D009849||atrophy olivo ponto cerebellar D009849||atrophy pontoolivocerebellar D009849||degeneration olivopontocerebellar D009849||degeneration olivo ponto cerebellar D009849||degenerations olivopontocerebellar D009849||degenerations olivo ponto cerebellar D009849||dejerine thomas syndrome D009849||familial olivopontocerebellar atrophies D009849||familial olivopontocerebellar atrophy D009849||idiopathic olivopontocerebellar atrophies D009849||idiopathic olivopontocerebellar atrophy D009849||inherited olivopontocerebellar atrophies D009849||inherited olivopontocerebellar atrophy D009849||nonfamilial olivopontocerebellar atrophies D009849||nonfamilial olivopontocerebellar atrophy D009849||olivopontocerebellar atrophies familial D009849||olivopontocerebellar atrophies idiopathic D009849||olivopontocerebellar atrophies inherited D009849||olivopontocerebellar atrophies nonfamilial D009849||olivopontocerebellar atrophy D009849||olivo ponto cerebellar atrophy D009849||olivopontocerebellar atrophy familial D009849||olivopontocerebellar atrophy idiopathic D009849||olivopontocerebellar atrophy inherited D009849||olivopontocerebellar atrophy nonfamilial D009849||olivopontocerebellar degeneration D009849||olivo ponto cerebellar degeneration D009849||olivopontocerebellar degenerations D009849||olivo ponto cerebellar degenerations D009849||pontoolivocerebellar atrophies D009849||pontoolivocerebellar atrophy D009849||presenile ataxia D009849||presenile ataxias D009849||syndrome dejerine thomas C565447|245349||pyruvate dehydrogenase e3 binding protein deficiency C565447|245349||lactic acidemia due to defect in lipoyl containing component x of the pyruvate dehydrogenase complex C565447|245349||pdhxd D009846||oliguria D009846||oligurias D009845||oligospermia D009845||count low sperm D009845||counts low sperm D009845||hypospermatogenesis D009845||low sperm count D009845||low sperm counts D009845||oligozoospermia D009845||sperm count low D009845||sperm counts low C562875|609814||complement factor h deficiency C562875|609814||cfhd C562875|609814||cfh deficiency C562875|609814||factor h deficiency 613118|D020152||antithrombin iii deficiency 613118|D020152||antithrombin 3 deficiencies 613118|D020152||antithrombin 3 deficiency 613118|D020152||antithrombin iii deficiencies 613118|D020152||at3d 613118|D020152||congenital antithrombin iii deficiency 613118|D020152||deficiencies antithrombin 3 613118|D020152||deficiencies antithrombin iii 613118|D020152||deficiency antithrombin 3 613118|D020152||deficiency antithrombin iii 613118|D020152||hereditary antithrombin deficiency 613118|D020152||thph7 613118|D020152||thrombophilia due to antithrombin iii deficiency C566353|603629||deafness autosomal recessive 21 C566353|603629||dfnb21 D058890||granulomatous mastitis D058890||mastitis granulomatous C565293|605803||dermatitis atopic 2 C565293|605803||atod2 C566512|609578||cardiomyopathy familial restrictive 2 C566512|609578||rcm2 606002|C537308||spinocerebellar ataxia autosomal recessive 1 606002|C537308||aoa2 606002|C537308||ataxia ocular apraxia 2 606002|C537308||ataxia oculomotor apraxia 2 606002|C537308||ataxia with oculomotor apraxia 606002|C537308||scan2 606002|C537308||scar1 606002|C537308||spinocerebellar ataxia recessive non friedreich type 1 606002|C537308||spinocerebellar ataxia with axonal neuropathy type 2 C562393|155600||melanoma cutaneous malignant C562393|155600||dysplastic nevus syndrome hereditary C562393|155600||familial atypical mole malignant melanoma syndrome C562393|155600||fammm C562393|155600||melanoma familial C562390||humoral hypercalcemia of malignancy C562391||ovarian fibromata C537396||neuropathy ataxia and retinis pigmentosa C537396||narp syndrome C537396||neurogenic muscle weakness ataxia and retinitis pigmentosa C537396||neuropathy ataxia and retinitis pigmentos C537396||neuropathy ataxia and retinitis pigmentosa C537396||neuropathy ataxia retinitis pigmentosa syndrome C563682||oculootofacial dysplasia C537395||neuronal intranuclear inclusion disease C536064||osteosclerosis with ichthyosis and premature ovarian failure C536064||sclerosing dysplasia of bone with ichthyosis and premature ovarian failure C536069||human spumaretrovirus infection C536069||human spumaretroviridae infection C537398||pili torti developmental delay neurological abnormalities C537398||pili torti and developmental delay C536067||hordnes engebretsen knudtson syndrome C537399||pili torti onychodysplasia C537399||twisted hair with nail dysplasias C536068||hoyeraal hreidarsson syndrome C536068||cerebellar hypoplasia with pancytopenia D009814||oesophagostomiasis D009814||oesophagostomiases D001098||spider bites D001098||arachnidism D001098||arachnidism necrotic D001098||bite spider D001098||bites spider D001098||necrotic arachnidism D001098||spider bite C537392||neurofibromatosis type 4 of riccardi C537392||neurofibromatosis atypical C537392||neurofibromatosis type iv of riccardi C537392||neurofibromatosis variant form s of C536061||osteopoikilosis and dacryocystitis C536061||dacryocystitis osteopoikilosis C536061||gunal seber basaran syndrome D009810||odontoma D009810||ameloblastic fibro odontoma D009810||ameloblastic fibro odontomas D009810||compound odontoma D009810||compound odontomas D009810||fibroodontoma D009810||fibro odontoma D009810||fibro odontoma ameloblastic D009810||fibroodontomas D009810||fibro odontomas D009810||fibro odontomas ameloblastic D009810||odontoma compound D009810||odontomas D009810||odontomas compound C536062||hernandez fragoso syndrome C536062||osteoporosis and oculocutaneous hypopigmentation syndrome C536062||osteoporosis oculocutaneous hypopigmentation syndrome C537390||neurofibromatosis type 5 C537390||neurofibromatosis type v C537390||segmental neurofibromatosis D006053|141400||goldenhar syndrome D006053|141400||craniofacial microsomia D006053|141400||craniofacial microsomias D006053|141400||disease goldenhar D006053|141400||dysostoses otomandibular D006053|141400||dysostosis otomandibular D006053|141400||dysplasia facioauriculovertebral D006053|141400||dysplasia lateral facial D006053|141400||dysplasia oculoauriculovertebral D006053|141400||dysplasias facioauriculovertebral D006053|141400||dysplasias lateral facial D006053|141400||dysplasias oculoauriculovertebral D006053|141400||facial dysplasia lateral D006053|141400||facial dysplasias lateral D006053|141400||facioauriculovertebral dysplasia D006053|141400||facioauriculovertebral dysplasias D006053|141400||facioauriculovertebral sequence D006053|141400||facioauriculovertebral sequences D006053|141400||fav sequence D006053|141400||first and second branchial arch syndrome D006053|141400||first and second pharyngeal arch syndromes D006053|141400||goldenhar disease D006053|141400||goldenhar gorlin syndrome D006053|141400||goldenhar gorlin syndromes D006053|141400||goldenhar syndrome with ipsilateral radial defect D006053|141400||hemifacial microsomia D006053|141400||hemifacial microsomia with radial defects D006053|141400||hfm D006053|141400||lateral facial dysplasia D006053|141400||lateral facial dysplasias D006053|141400||microsomia craniofacial D006053|141400||microsomia hemifacial radial defects D006053|141400||microsomias craniofacial D006053|141400||moeschler clarren syndrome D006053|141400||oav dysplasia D006053|141400||oavs D006053|141400||oavs with radial defect D006053|141400||oculoauriculovertebral dysplasia D006053|141400||oculoauriculovertebral dysplasias D006053|141400||oculoauriculovertebral spectrum D006053|141400||oculoauriculovertebral spectrums D006053|141400||oculoauriculovertebral spectrum with radial defect D006053|141400||oculoauriculovertebral syndrome D006053|141400||oral mandibular auricular syndrome D006053|141400||oral mandibular auricular syndromes D006053|141400||otomandibular dysostoses D006053|141400||otomandibular dysostosis D006053|141400||syndrome goldenhar D006053|141400||syndrome goldenhar gorlin D006053|141400||syndrome moeschler clarren D006053|141400||syndrome oculoauriculovertebral D006053|141400||syndrome oral mandibular auricular D006053|141400||syndromes goldenhar gorlin D006053|141400||syndromes oral mandibular auricular C537391||neurofibromatosis familial intestinal C537391||neurofibromatosis 3b C536060||whyte murphy fallon sly syndrome 203290|C537731||oculocutaneous albinism type 3 203290|C537731||albinism 3 203290|C537731|C537189||albinism iii 203290|C537731||albinism oculocutaneous type 3 203290|C537731|C537189||albinism oculocutaneous type iii 203290|C537731||oca3 203290|C537731|C537189||oculocutaneous albinism type iii 203290|C537731||roca 203290|C537731|C537189||rufous oculocutaneous albinism 203290|C537731|C537189||xanthism 270300|C564818||peeling skin syndrome 270300|C564818||deciduous skin 270300|C564818||keratolysis exfoliativa congenita 270300|C564818||peeling skin syndrome type b 270300|C564818|C538356|601224||pss 270300|C564818||skin peeling familial continuous generalized C536077||hydroa vacciniforme familial C536077||familial hydroa vacciniforme C536074||hutterite cerebroosteonephrodysplasia syndrome C536074||cerebroosteonephrosis syndrome C536074||congenital shortness with mild spondylorhizomelic dwarfism C567489|270970||spherocytosis type 3 C567489|270970||hs3 C567489|270970||sph3 C567489|270970||spherocytosis hereditary 3 C563698||mitochondrial dna depletion syndrome myopathic form C563698||mitochondrial dna depletion myopathy autosomal recessive 114900|C562842||carcinoid tumors intestinal 611126|C567006||acyl coa dehydrogenase family member 9 deficiency of 611126|C567006||acad9 deficiency 611126|C567006||mitochondrial complex i deficiency due to acad9 deficiency C536079||hydrolethalus syndrome C536072||hunter mcalpine syndrome C536072||hunter mcalpine craniosynostosis C536072||hunter mcalpine craniosynostosis syndrome C536071||hunter carpenter macdonald syndrome C573012||lactic acidosis congenital infantile due to lad deficiency C573012||dihydrolipoamide dehydrogenase deficiency C573012||dld deficiency C573012||lipoamide dehydrogenase deficiency lactic acidosis due to C573012||maple syrup urine disease type iii D025064||sex chromosome disorders D025064||chromosome disorder sex D025064||chromosome disorders sex D025064||disorders sex chromosome D025064||disorders sex chromosome abnormality D025064||sex chromosome abnormality disorders D025064||sex chromosome disorder D025063||chromosome disorders D025063||autosomal chromosome disorder D025063||autosomal chromosome disorders D025063||chromosomal disorder D025063||chromosomal disorders D025063||chromosome abnormality disorder D025063||chromosome abnormality disorders D025063||chromosome disorder D025063||chromosome disorder autosomal D025063||chromosome disorders autosomal D025063||disorder chromosomal D025063||disorder chromosome D025063||disorder chromosome abnormality D025063||disorders chromosomal D025063||disorders chromosome D013088||spermatocele D013088||cyst epididymal D013088||cysts epididymal D013088||epididymal cyst D013088||epididymal cysts D013088||spermatoceles D013086||spermatic cord torsion D013086||spermatic cord torsions D013086||testicular torsion D013086||testicular torsions D013086||torsion of testicular cord D013086||torsion spermatic cord D013086||torsions spermatic cord D013086||torsions testicular D013086||torsion testicular C536087||ichthyosis hystrix gravior C536087||ichthyosis lambert type C536087||lambert type ichthyosis C536087||porcupine man D014390||tuberculosis meningeal D014390||hypertrophic pachymeningitides tuberculous D014390||hypertrophic pachymeningitis tuberculous D014390||meningeal tuberculoses D014390||meningeal tuberculosis D014390||meningitides tubercular D014390||meningitides tuberculosis D014390||meningitides tuberculous D014390||meningitis tubercular D014390||meningitis tuberculosis D014390||meningitis tuberculous D014390||pachymeningitides tuberculous hypertrophic D014390||pachymeningitis tuberculous hypertrophic D014390||tb meningitides D014390||tb meningitis D014390||tubercular meningitides D014390||tubercular meningitis D014390||tuberculoses meningeal D014390||tuberculosis meningitides D014390||tuberculosis meningitis D014390||tuberculous hypertrophic pachymeningitides D014390||tuberculous hypertrophic pachymeningitis D014390||tuberculous meningitides D014390||tuberculous meningitis C564991||gamma a globulin defect in assembly of C564991||iga defect in assembly of C564991||immunoglobulin a defect in assembly of C563136|309541||mental retardation x linked 3 C563136|309541||methylmalonic acidemia and homocysteinemia cblx type C563136|309541||mrx3 C564990||gastric sneezing C564990||stomach sneeze reflex D014394||tuberculosis osteoarticular D014394||bone tuberculoses D014394||bone tuberculosis D014394||joint tuberculoses D014394||joint tuberculosis D014394||osteoarticular tuberculoses D014394||osteoarticular tuberculosis D014394||tuberculoses bone D014394||tuberculoses joint D014394||tuberculoses osteoarticular D014394||tuberculosis bone D014394||tuberculosis joint D014393||tuberculosis oral D014393||oral tuberculoses D014393||oral tuberculosis D014393||tuberculoses oral C563664||epiphyseal dysplasia baumann type D014392||tuberculosis ocular D014392||ocular tuberculoses D014392||ocular tuberculosis D014392||tuberculoses ocular D014391||tuberculosis miliary D014391||miliary tuberculoses D014391||miliary tuberculosis D014391||tuberculoses miliary C564999||friedreich ataxia so called with optic atrophy and sensorineural deafness C566432|610582||diabetes mellitus transient neonatal 3 C566432|610582||tndm3 diabetes mellitus type ii autosomal dominant included C536083||hypercholesterolemia due to arg3500 mutation of apo b 100 C536084||ichthyosis cheek eyebrow syndrome C536084||sidransky feinstein goodman syndrome C567407|612158||cardiomyopathy dilated 1aa C567407|612158||cmd1aa D001079||apudoma D001079||apudomas C536082||hypercalciuria childhood idiopathic C536082||childhood idiopathic hypercalciuria C548076||pseudohypoparathyroidism type 1c D056266||erythro et keratodermia variabilis D056266||erythrokeratodermia figurata variabili D056266||erythrokeratodermia figurata variabilis D056266||erythrokeratodermia variabili D056266||figurata variabilis erythrokeratodermia D056266||greither disease D056266||mendes de costa syndrome D056266||transgrediens et progrediens palmoplantar keratoderma D056266||variabili erythrokeratodermia D056266||variabilis erythrokeratodermia D056266||variabilis erythrokeratodermia figurata C548075||pseudohypoparathyroidism type 1b C567485|300123||mental retardation x linked with panhypopituitarism C567485|300123||mental retardation x linked with panhypopituitarism mental retardation x linked with isolated growth hormone deficiency C567485|300123||mrgh included D056267||pagetoid reticulosis D056267||disease ketron goodman D056267||disease woringer kolopp D056267||ketron goodman disease D056267||kolopp disease woringer D056267||pagetoid reticuloses D056267||reticuloses pagetoid D056267||reticulosis pagetoid D056267||woringer kolopp disease C548077||pseudohypoparathyroidism type 2 C548077||php2 C548077||php ii C548077||pseudohypoparathyroidism type ii C576976||hypothyroidism congenital nongoitrous 1 C576976||hypothyroidism congenital due to tsh resistance C576976||hypothyroidism due to unresponsiveness to thyrotropin C576976||hypothyroidism nonautoimmune C576976||thyroid stimulating hormone resistance to 604169||left ventricular noncompaction 1 604169||left ventricular noncompaction 1 with or without congenital heart defects 604169||lvnc1 D014387||tuberculosis laryngeal D014387||laryngeal tuberculoses D014387||laryngeal tuberculosis D014387||larynx tuberculoses D014387||larynx tuberculosis D014387||tuberculoses laryngeal D014387||tuberculosis of larynx C536162|148700||keratosis palmoplantaris striata 1 C536162|148700||keratoderma palmoplantar striate form 1 C536162|148700||keratoderma palmoplantar striate form i C536162|148700||keratosis palmoplantaris striata i C536162|148700||kpps1 C536162|148700||palmoplantar keratoderma i striate focal or diffuse C536162|148700||ppks1 C536162|148700||sppk1 C536162|148700||striate palmoplantar keratoderma 1 C536162|148700||striate palmoplantar keratoderma i D014386||tuberculosis hepatic D014386||hepatic tuberculoses D014386||hepatic tuberculosis D014386||tuberculoses hepatic D014385||tuberculosis gastrointestinal D014385||gastrointestinal tuberculosis C548070||pontocerebellar hypoplasia type 2 D014384||tuberculosis female genital D014384||female genital tuberculoses D014384||female genital tuberculosis D014384||genital tuberculoses female D014384||genital tuberculosis female D014384||tuberculoses female genital C548071||megarbane jalkh syndrome C548071||developmental delay dysmorphic features neonatal spontaneous fractures wrinkled skin and hepatic failure D014389||tuberculosis male genital D014389||genital tuberculoses male D014389||genital tuberculosis male D014389||male genital tuberculoses D014389||male genital tuberculosis D014389||tuberculoses male genital D014388||tuberculosis lymph node D014388||cervical lymphadenitis mycobacterial D014388||cervical tuberculous lymphadenitis D014388||lymphadenitis cervical tuberculous D014388||lymphadenitis mycobacterial cervical D014388||lymphadenitis tuberculous D014388||lymph node tuberculoses D014388||lymph node tuberculosis D014388||mycobacterial cervical lymphadenitis D014388||scrofula D014388||scrofulas D014388||tuberculoses lymph node D014388||tuberculous lymphadenitis D014388||tuberculous lymphadenitis cervical C536291|609529||immunoglobulin a deficiency 2 C536291|609529||igad2 C536291|609529||iga selective deficiency of taci related C536291|609529||immunoglobulin a selective deficiency of taci related C536099||myokymia with neonatal epilepsy C536099||bfnc myokymia syndrome C536099||convulsions benign familial neonatal with myokymia C536099||epilepsy benign neonatal with myokymia C563670||aneurysm intracranial berry 5 D009808||odontogenic tumors D009808||dental tissue neoplasm D009808||dental tissue neoplasms D009808||neoplasm dental tissue D009808||neoplasms dental tissue D009808||odontogenic tumor D009808||tissue neoplasm dental D009808||tissue neoplasms dental D009808||tumor odontogenic D009808||tumors odontogenic D009807||odontogenic cysts D009807||cyst odontogenic D009807||cysts odontogenic D009807||keratocyst D009807||keratocysts D009807||odontogenic cyst C563674||macular degeneration age related 6 D039682||hiv associated lipodystrophy syndrome D039682||hiv associated lipodystrophy D039682||hiv lipodystrophy syndrome D039682||lipodystrophy hiv associated D039682||lipodystrophy syndrome hiv D039682||lipodystrophy syndrome hiv associated C536090|608931||myasthenic syndrome congenital type id C536090|608931||myasthenic syndrome congenital associated with acetylcholine receptor deficiency C536090|608931||myasthenic syndrome congenital postsynaptic associated with acetylcholine receptor deficiency C537723|300260||lubs x linked mental retardation syndrome C537723|300260||mecp2 duplication syndrome C537723|300260||mental retardation x linked lubs type C537723|300260||mental retardation x linked syndromic lubs type C537723|300260||mental retardation x linked with recurrent respiratory infections C537723|300260||mrxsl C537723|300260||trisomy xq28 C537723|300260||xlmr syndrome lubs type C537907|146255||barakat syndrome C537907|146255||hdr C537907|146255||hdrs C537907|146255||hdr syndrome C537907|146255||hypoparathyroidism sensorineural deafness and renal disease C537907|146255||hypoparathyroidism sensorineural deafness and renal dysplasia syndrome C537907|146255||nephrosis nerve deafness and hypoparathyroidism C536094||myeloid splenomegaly C536094||idiopathic myeloid splenomegaly 186500||syns1 186500||wl syndrome C536092||mycobacterium tuberculosis susceptibility to infection by 103470|C537043||albinism ocular late onset sensorineural deafness 103470|C537043||albinism ocular with late onset sensorineural deafness 103470|C537043||albinism ocular with sensorineural deafness 103470|C537043||deafness and ocular albinism 103470|C537043||oasd 103470|C537043||ocular albinism with sensorineural deafness 103470|C537043||waardenburg syndrome type 2 with ocular albinism autosomal recessive 103470|C537043||waardenburg syndrome type ii with ocular albinism autosomal recessive 103470|C537043||ws2 oa C538336|302350||nance horan syndrome C538336|302350||cataract dental syndrome C538336|302350||cataract x linked with hutchinsonian teeth C538336|302350||mesiodens cataract syndrome C538336|302350||nhs C564605|607221||epilepsy partial with pericentral spikes C564605|607221||epps C564605|607221||peps D014398||tuberculosis renal D014398||renal tuberculoses D014398||renal tuberculosis D014398||tuberculoses renal D014397||tuberculosis pulmonary D014397||consumption pulmonary D014397||consumptions pulmonary D014397||phthises pulmonary D014397||phthisis pulmonary D014397||pulmonary consumption D014397||pulmonary consumptions D014397||pulmonary phthises D014397||pulmonary phthisis D014397||pulmonary tuberculoses D014397||pulmonary tuberculosis D014397||tuberculoses pulmonary D013064||speech disorders D013064||aprosodia D013064||aprosodias D013064||aprosodic speech D013064||cluttering D013064||clutterings D013064||dysglossia D013064||dysglossias D013064||dyslalia D013064||dyslalias D013064||rhinolalia D013064||rhinolalias D013064||speech aprosodic D013064||verbal fluency disorder D013064||verbal fluency disorders D014396||tuberculosis pleural D014396||pleural tuberculoses D014396||pleural tuberculosis D014396||pleurisies tuberculous D014396||pleurisy tuberculous D014396||tuberculoses pleural D014396||tuberculous pleurisies D014396||tuberculous pleurisy D014395||peritonitis tuberculous D014395||peritoneal tuberculosis D014395||tuberculosis peritoneal D014395||tuberculous peritonitis D014399||tuberculosis spinal D014399||disease pott D014399||disease pott apos s D014399||pott disease D014399||pott apos s disease D014399||potts disease D014399||pott apos s paraplegia D014399||spinal tuberculoses D014399||spinal tuberculosis D014399||tuberculoses spinal C564971||myopathy with giant abnormal mitochondria C563640||lactic acidosis chronic adult form C536021||achromatopsia 1 C536021||rod monochromacy C536021||rod monochromatism D005910|137800||glioma D005910|137800||astrocytoma included D005910|137800||ependymoma included D005910|137800||gbm included D005910|137800||glial cell tumor D005910|137800||glial cell tumors D005910|137800||glioblastoma multiforme included D005910|137800||glioma malignant D005910|137800||glioma mixed D005910|137800||glioma of brain familial included D005910|137800||gliomas D005910|137800||gliomas malignant D005910|137800||gliomas mixed D005910|137800||glioma susceptibility 1 D005910|137800||glioma susceptibility 2 D005910|137800||glioma susceptibility 3 D005910|137800||glioma susceptibility 4 D005910|137800||glioma susceptibility 5 D005910|137800||glioma susceptibility 6 D005910|137800||glioma susceptibility 8 D005910|137800||glm1 D005910|137800||glm2 D005910|137800||glm3 D005910|137800||glm4 D005910|137800||glm5 D005910|137800||glm6 D005910|137800||glm8 D005910|137800||glm included D005910|137800||malignant glioma D005910|137800||malignant gliomas D005910|137800||mixed glioma D005910|137800||mixed gliomas D005910|137800||oligodendroglioma included D005910|137800||subependymoma included D005910|137800||tumor glial cell D005910|137800||tumors glial cell C537353||metaphyseal chondrodysplasia spahr type C537353||spahr type metaphyseal chondrodysplasia C536022||marles greenberg persaud syndrome C536022||manitoba oculotrichoanal syndrome C536022||manitoba trichoanal syndrome C536022||marles syndrome C537350||metaphyseal acroscyphodysplasia C537350||wedge shaped epiphyses of knees C538682||hyperkeratosis of the palms and soles and esophageal papillomas C538682||early onset tylosis type b C538682||familial tylosis C538682||focal non epidermolytic palmoplantar keratoderma C538682||focal palmoplantar keratoderma C538682||late onset tylosis type a C537351||metaphyseal anadysplasia C537351||early onset regressive form of metaphyseal dysplasia C536020||achondroplasia and swiss type agammaglobulinemia C536020||agammaglobulinaemia and achondroplasia C564974||myopathy granulovacuolar lobular with electrical myotonia C536026||marshall smith syndrome C564973||myopathy due to malate aspartate shuttle defect C537354||metaphyseal chondrodysplasia with cone shaped epiphyses normal hair and normal hands C537354||cupped metaphyses and cone shaped epiphyses without alopecia or brachydactyly C536023||maroteaux fonfria syndrome C536023||apert syndrome with polydactyly of hands and feet C536023||apparent apert syndrome with polydactyly C563641||lactate dehydrogenase b deficiency C537355||metaphyseal undermodeling spondylar dysplasia and overgrowth C536024||marsden syndrome C536024||dystonia familial with visual failure and striatal lucencies C536024||leber hereditary optic neuropathy with dystonia C564979||myasthenia congenital refractory to acetylcholinesterase inhibitors D002388||catastrophic illness D002388||catastrophic illnesses D002388||illness catastrophic D002388||illnesses catastrophic C548006||atrial septal defect ostium primum 300582|C564479||short stature idiopathic x linked 300582|C564479||iss C564977||myeloproliferative disease autosomal recessive C563646||keratosis palmaris et plantaris with clinodactyly D002389||catatonia D002389||catatonia lethal D002389||catatonia malignant D002389||catatonia organic D002389||catatonias D002389||catatonia schizophreniform D002389||catatonias lethal D002389||catatonias malignant D002389||catatonias organic D002389||catatonias schizophreniform D002389||catatonic disorder organic D002389||catatonic disorders organic D002389||lethal catatonia D002389||lethal catatonias D002389||malignant catatonia D002389||malignant catatonias D002389||organic catatonia D002389||organic catatonias D002389||organic catatonic disorder D002389||organic catatonic disorders D002389||schizophreniform catatonia D002389||schizophreniform catatonias C548009||atrial septal defect sinus venosus C564976||epilepsy progressive myoclonic 2b D002385||cataplexy D002385||attack cataleptic D002385||attacks cataleptic D002385||cataleptic attack D002385||cataleptic attacks D002385||henneberg syndrome D002385||status cataplexicus D002385||syndrome henneberg D002385||syndromes tonelessness D002385||syndrome tonelessness D002385||tonelessness syndrome D002385||tonelessness syndromes D002386||cataract D002386||cataract membranous D002386||cataracts D002386||cataracts membranous D002386||lens opacities D002386||lens opacity D002386||membranous cataract D002386||membranous cataracts D002386||opacities lens D002386||opacity lens D002386||pseudoaphakia D002386||pseudoaphakias C548012||diploid triploid mosaicism D040701||stress disorders traumatic acute D040701||acute stress disorder D040701||acute stress disorders D040701||stress disorder acute D040701||stress disorders acute C548011||deafness with labyrinthine aplasia microtia and microdontia lamm C548014||gestational diabetes insipidus C548013||dipsogenic diabetes insipidus C548016||hypermanganesemia with dystonia polycythemia and cirrhosis C548016||dystonia parkinsonism hypermanganesemia polycythemia and chronic liver disease C548016||hepatic cirrhosis dystonia polycythaemia and hypermanganesaemia C548016||hepatic cirrhosis dystonia polycythemia and hypermanganesemia C548016||hmdpc C548016||parkinsonism and dystonia with hypermanganesemia polycythemia and chronic liver disease C537349||mesomelic dwarfism reinhardt pfeiffer type C537349||hypoplasia of ulna and fibula C537349||mesomelic dwarfism of hypoplastic ulna and fibula type C537349||reinhardt pfeiffer mesomelic dysplasia C537349||reinhardt pfeiffer mesomelic skeletal dysplasia C537349||reinhardt pfeiffer syndrome C537349||ulna and fibula hypoplasia of C536018||achondrogenesis type 3 C536018||type 3 achondrogenesis C536019||achondrogenesis type 4 C536019||type 4 achondrogenesis 605479||bric2 C537347||mesenteric vascular disease C537347||acute mesenteric ischemia C537347||chronic mesenteric ischemia C537347||mesenteric artery ischemia D013031||sparganosis D013031||sparganoses C538679||transient antero apical dyskinesia C538678||lymphedema of the lower extremities recurrent pneumonia bronchiectasis and yellowed nails D013035||spasm D013035||ciliary body spasm D013035||ciliary body spasms D013035||generalized spasm D013035||generalized spasms D013035||muscle spasm D013035||muscle spasms D013035||muscular spasm D013035||muscular spasms D013035||spasm ciliary body D013035||spasm generalized D013035||spasm muscle D013035||spasm muscular D013035||spasms D013035||spasms ciliary body D013035||spasms generalized D013035||spasms muscle D013035||spasms muscular 162900|C562736||nevus epidermal 162900|C562736||nevus keratinocytic nonepidermolytic 162900|C562736||nevus keratinocytic nonepidermolytic nevus sebaceous included D013036||spasms infantile D013036||attack lightning D013036||attacks lightning D013036||attacks salaam D013036||cryptogenic infantile spasm D013036||cryptogenic infantile spasms D013036||cryptogenic west syndrome D013036||hypsarrhythmia D013036||hypsarrhythmias D013036||infantile spasm D013036||infantile spasm cryptogenic D013036||infantile spasms D013036||infantile spasms cryptogenic D013036||infantile spasms symptomatic D013036||infantile spasm symptomatic D013036||jackknife seizure D013036||jackknife seizures D013036||lightning attack D013036||lightning attacks D013036||nodding spasm D013036||nodding spasms D013036||salaam attacks D013036||salaam seizures D013036||seizure jackknife D013036||seizures jackknife D013036||seizures salaam D013036||spasm cryptogenic infantile D013036||spasm nodding D013036||spasms cryptogenic infantile D013036||spasms nodding D013036||spasms symptomatic infantile D013036||spasm symptomatic infantile D013036||spasmus nutans D013036||symptomatic infantile spasm D013036||symptomatic infantile spasms D013036||symptomatic west syndrome D013036||syndrome cryptogenic west D013036||syndrome symptomatic west D013036||syndrome west D013036||west syndrome D013036||west syndrome cryptogenic D013036||west syndrome symptomatic 253270|D028922||holocarboxylase synthetase deficiency 253270|D028922||carboxylase deficiency multiple neonatal form 253270|D028922||deficiencies hlcs 253270|D028922||deficiencies holocarboxylase synthetase 253270|D028922||deficiency hlcs 253270|D028922||deficiency holocarboxylase synthetase 253270|D028922||deficiency multiple carboxylase neonatal form 253270|D028922||early onset biotin responsive multiple carboxylase deficiency 253270|D028922||early onset combined carboxylase deficiency 253270|D028922||hlcs deficiencies 253270|D028922||hlcs deficiency 253270|D028922||holocarboxylase synthetase deficiencies 253270|D028922||infantile multiple carboxylase deficiency 253270|D028922||multiple carboxylase deficiency early onset 253270|D028922||multiple carboxylase deficiency neonatal form C564982||muscular hypertonia lethal C563651||kallmann syndrome 2 with cleft lip or palate C537363||ichthyosiform erythroderma corneal involvement deafness C537363||desmons syndrome C537363||ichthyosiform erythroderma corneal involvement and deafness C537363||keratitis ichthyosis deafness syndrome autosomal recessive C537363||kid syndrome autosomal recessive C536032||mastocytic enterocolitis C563650||keratitis fugax hereditaria C563650||keratoendotheliitis fugax hereditaria C537364||jagell holmgren hofer syndrome C537364||ichthyosis alopecia eclabion ectropion mental retardation C537364||ichthyosis with alopecia eclabion ectropion and mental retardation C536033||mastocytosis cutaneous with short stature conductive hearing loss and microtia C564980||musk inability to smell C537362|242860||immunodeficiency syndrome variable C537362|242860||centromeric instability immunodeficiency syndrome C537362||immunodeficiency centromeric instability facial anomalies syndrome C536031||massa casaer ceulemans syndrome C536031||arthrogryposis multiplex congenita associated with lissencephaly C537367||mucolipidosis type 3 a C536036||maxillonasal dysplasia binder type C536036||binder syndrome D014383||tuberculosis endocrine D014383||endocrine tuberculoses D014383||endocrine tuberculosis D014383||tuberculoses endocrine C564985||muscular dystrophy congenital producing arthrogryposis D014382||tuberculosis cutaneous D014382||cutaneous tuberculoses D014382||cutaneous tuberculosis D014382||scrofuloderma D014382||scrofulodermas D014382||skin tuberculoses D014382||skin tuberculosis D014382||tuberculid D014382||tuberculids D014382||tuberculoses cutaneous D014382||tuberculoses skin D014382||tuberculosis skin C563653||kallikrein decreased urinary activity of D014381||tuberculosis cardiovascular D014381||cardiovascular tuberculoses D014381||cardiovascular tuberculosis D014381||tuberculoses cardiovascular C564983||muscular dystrophy congenital with rapid progression C563652||kallmann syndrome 2 with bimanual synkinesia C536035||maternally inherited leigh syndrome C536035||leigh disease maternally inherited C536035||subacute necrotizing encephalomyelopathy maternally inherited D014380||tuberculosis bovine D014380||bovine tuberculoses D014380||bovine tuberculosis D014380||tuberculoses bovine C564989||gastric volvulus intrathoracic C563658||polyosteolysis hyperostosis syndrome D001064||appendicitis D001064||appendicitis perforated D001064||appendicitis ruptured D001064||perforated appendicitis D001064||ruptured appendicitis D001063||appendiceal neoplasms D001063||appendiceal cancer D001063||appendiceal neoplasm D001063||appendix cancer D001063||cancer appendiceal D001063||cancer appendix D001063||cancer of appendix D001063||cancer of the appendix D001063||neoplasm appendiceal D001063||neoplasms appendiceal D001068||eating disorders D001068||appetite disorder D001068||appetite disorders D001068||eating disorder 182250|C537343||singleton merten syndrome 182250|C537343||merten singleton syndrome D001072||apraxias D001072||1 speech language disorder D001072||1s speech language disorder D001072||apraxia D001072||apraxia articulatory D001072||apraxia developmental verbal D001072||apraxia dressing D001072||apraxia facial oral D001072||apraxia gestural D001072||apraxia ideational D001072||apraxia motor D001072||apraxia of phonation D001072||apraxia oral D001072||apraxias articulatory D001072||apraxias developmental verbal D001072||apraxias dressing D001072||apraxias facial oral D001072||apraxias gestural D001072||apraxias ideational D001072||apraxias motor D001072||apraxias oral D001072||apraxias verbal D001072||apraxia verbal D001072||articulatory apraxia D001072||articulatory apraxias D001072||articulatory dyspraxia D001072||articulatory dyspraxias D001072||developmental verbal apraxia D001072||developmental verbal apraxias D001072||developmental verbal dyspraxias D001072||disorder 1 speech language D001072||disorder 1s speech language D001072||dressing apraxia D001072||dressing apraxias D001072||dyspraxia D001072||dyspraxia articulatory D001072||dyspraxia developmental verbal D001072||dyspraxia oral D001072||dyspraxias D001072||dyspraxias articulatory D001072||dyspraxias developmental verbal D001072||dyspraxias oral D001072||dyspraxias verbal D001072||dyspraxia verbal D001072||facial oral apraxia D001072||facial oral apraxias D001072||gestural apraxia D001072||gestural apraxias D001072||ideational apraxia D001072||ideational apraxias D001072||motor apraxia D001072||motor apraxias D001072||oral apraxia D001072||oral apraxias D001072||oral dyspraxia D001072||oral dyspraxias D001072||phonation apraxia D001072||phonation apraxias D001072||speech language disorder 1s D001072||verbal apraxia D001072||verbal apraxia developmental D001072||verbal apraxias D001072||verbal apraxias developmental D001072||verbal dyspraxia D001072||verbal dyspraxia developmental D001072||verbal dyspraxias D001072||verbal dyspraxias developmental D014376||tuberculosis D014376||disease kochs D014376||disease koch apos s D014376||koch disease D014376||koch apos s disease D014376||kochs disease D014376||tuberculoses D014375||tuberculoma D014375||tuberculomas C537358||methylmalonic acidemia C537358||acidemia methylmalonic C537358||isolated methylmalonic acidemia C537358||methylmalonic aciduria C536027||martinez monasterio pinheiro syndrome C536027||cleft lip palate oligodontia syndactyly hair alterations D014379||tuberculosis avian D014379||avian tuberculoses D014379||avian tuberculosis D014379||tuberculoses avian C567436|612016||spinocerebellar ataxia autosomal recessive 9 C567436|612016||cerebellar ataxia autosomal recessive type 2 C567436|612016||coenzyme q10 deficiency primary 4 C567436|612016||coq10d4 C567436|612016||scar9 C537374||multifocal choroiditis C536043||osteogenesis imperfecta type 2b C536043||osteogenesis imperfecta perinatal lethal autosomal recessive C536043||osteogenesis imperfecta type iib C537375||multifocal fibrosclerosis C537375||fibrosclerosis multifocal C537375||mediastinal fibrosis familial C537375||retroperitoneal fibrosis familial C563719|609446||generalized epilepsy and paroxysmal dyskinesia C563719|609446||epilepsy generalized with paroxysmal dyskinesia C563719|609446||gepd D001039||aphasia broca D001039||agrammatism D001039||anterior aphasia D001039||anterior aphasias D001039||aphasia anterior D001039||aphasia ataxic D001039||aphasia expressive D001039||aphasia frontocortical D001039||aphasia motor D001039||aphasia nonfluent D001039||aphasias anterior D001039||aphasias ataxic D001039||aphasias broca D001039||aphasias frontocortical D001039||aphasia syndromes verbal D001039||aphasia syndrome verbal D001039||ataxic aphasia D001039||ataxic aphasias D001039||broca aphasia D001039||broca aphasias D001039||broca dysphasia D001039||broca apos s dysphasia D001039||dysphasia broca D001039||dysphasia brocas D001039||dysphasia broca apos s D001039||expressive aphasia D001039||frontocortical aphasia D001039||frontocortical aphasias D001039||motor aphasia D001039||nonfluent aphasia D001039||syndromes verbal aphasia D001039||syndrome verbal aphasia D001039||verbal aphasia syndrome D001039||verbal aphasia syndromes C537372||multi centric castleman apos s disease C537372||hhv 8 associated multicentric castleman disease C537372||hhv8 multicentric castleman disease C537372||idiopathic multicentric castleman apos s disease C537372||kshv associated multicentric castleman disease C537372||kshv muticentric castleman disease C537372||multicentric castleman apos s disease C537372||multicentric plasma cell variant of castleman apos s disease C537372||plasmablastic multicentric castleman disease C536041||osteogenesis imperfecta type 1a C536041||osteogenesis imperfecta type 1 with dentinogenesis imperfecta C536041||osteogenesis imperfecta type i with dentinogenesis imperfecta C536041||osteogenesis imperfecta with opalescent teeth C535627|140000||hand foot uterus syndrome C535627|140000||hand foot genital syndrome C535627|140000||hfg C535627|140000||hfg syndrome C535627|140000||hfu C535627|140000||hfu syndrome C536047||osteogenesis imperfecta type 6 C563621||lip hamartomatous C563621||enlargement of lower lip C563620||lipoma of the conjunctiva C563626||leukocyte nuclear appendages hereditary prevalence of C548029||karak syndrome D020371|169500||adld D020371|169500||adult pelizaeus merzbacher disease D020371|169500||atypical pelizaeus merzbacher disease D020371|169500||classic pelizaeus merzbacher disease D020371|169500||cockayne pelizaeus merzbacher disease D020371|169500||leukodystrophy hypomyelinating 1 D020371|169500||pelizaeus merzbacher disease adult D020371|169500||pelizaeus merzbacher disease atypical D020371|169500||pelizaeus merzbacher disease autosomal dominant or late onset type formerly D020371|169500||pelizaeus merzbacher disease classic D020371|169500||pelizaeus merzbacher disease transitional D020371|169500||pelizaeus merzbacher sclerosis brain D020371|169500||pmd D020371|169500||sclerosis brain pelizaeus merzbacher D020371|169500||transitional pelizaeus merzbacher disease C563625||levator medial rectus synkinesis C563625||oculomotor levator synkinesis C548028||inherited peripheral neuropathy C564955||sialidosis type i C563624||lichen planus familial C564954||neurologic disease infantile multisystem with osseous fragility D003699||hepatitis d D003699||amazon black fever D003699||black fever amazon D003699||delta hepatitis D003699||delta infection D003699||delta superinfection D003699||delta superinfections D003699||disease labrea D003699||diseases labrea D003699||fever amazon black D003699||hepatitides delta D003699||hepatitis delta D003699||infection delta D003699||infections delta D003699||labrea disease D003699||labrea diseases D003699||superinfection delta D003699||superinfections delta D001037||aphasia D001037||acquired aphasia D001037||ageusic aphasia D001037||ageusic aphasias D001037||alogia D001037||alogias D001037||anepia D001037||anepias D001037||aphasia acquired D001037||aphasia ageusic D001037||aphasia auditory discriminatory D001037||aphasia commisural D001037||aphasia functional D001037||aphasia global D001037||aphasia graphomotor D001037||aphasia intellectual D001037||aphasia mixed D001037||aphasia post ictal D001037||aphasia post traumatic D001037||aphasia progressive D001037||aphasias ageusic D001037||aphasias auditory discriminatory D001037||aphasias commisural D001037||aphasia semantic D001037||aphasias functional D001037||aphasias global D001037||aphasias graphomotor D001037||aphasias intellectual D001037||aphasias mixed D001037||aphasias post ictal D001037||aphasias post traumatic D001037||aphasias progressive D001037||aphasias semantic D001037||aphasias syntactical D001037||aphasia syntactical D001037||auditory discriminatory aphasia D001037||auditory discriminatory aphasias D001037||commisural aphasia D001037||commisural aphasias D001037||dejerine lichtheim phenomenon D001037||discriminatory aphasia auditory D001037||discriminatory aphasias auditory D001037||dysphasia D001037||dysphasia global D001037||dysphasias global D001037||functional aphasia D001037||functional aphasias D001037||global aphasia D001037||global aphasias D001037||global dysphasia D001037||global dysphasias D001037||graphomotor aphasia D001037||graphomotor aphasias D001037||intellectual aphasia D001037||intellectual aphasias D001037||lichtheim sign D001037||lichtheim apos s sign D001037||lichtheims sign D001037||logagnosia D001037||logagnosias D001037||logamnesia D001037||logamnesias D001037||logasthenia D001037||logasthenias D001037||mixed aphasia D001037||mixed aphasias D001037||phenomenon dejerine lichtheim D001037||post ictal aphasia D001037||post ictal aphasias D001037||post traumatic aphasia D001037||post traumatic aphasias D001037||progressive aphasia D001037||progressive aphasias D001037||semantic aphasia D001037||semantic aphasias D001037||sign lichtheim apos s D001037||syntactical aphasia D001037||syntactical aphasias C537370||muller barth menger syndrome C537370||cerebral malformation seizures hypertrichosis and overlapping fingers D001036||aphakia postcataract D001036||aphakias postcataract D001036||postcataract aphakia D001036||postcataract aphakias C537371||mullerian aplasia C537371||congenital absence of uterus and vagina C537371||klippel feil deformity conductive deafness and absent vagina C537371||mayer rokitansky kuster hauser syndrome type ii C537371||mrkh type ii C537371||mullerian duct aplasia unilateral renal agenesis and cervicothoracic somite anomalies C537371||mullerian duct failure C537371||murcs association C537371||rkh syndrome C537371||rokitansky kuster hauser syndrome C537371||rokitansky sequence D003693||delirium D003693||delirium of mixed origin D003693||deliriums subacute D003693||delirium subacute D003693||mixed origin delirium D003693||mixed origin deliriums D003693||subacute delirium D003693||subacute deliriums D001035||aphakia D001035||aphakias C548031||knobloch syndrome type iii C567202|612690||spherocytosis type 5 C567202|612690||hs5 C567202|612690||sph5 C567202|612690||spherocytosis hereditary 5 C564251|608371||orofacial cleft 4 C564251|608371||cleft lip with or without cleft palate nonsyndromic 4 C564251|608371||ofc4 C548034||orofaciodigital syndrome 12 D002371||cat diseases D002371||cat disease D002371||disease cat D002371||disease feline D002371||diseases cat D002371||diseases feline D002371||feline disease D002371||feline diseases C548035||orofaciodigital syndrome 13 612520|C567286||diabetes mellitus insulin dependent 20 612520|C567286||iddm20 D015674||mammary neoplasms animal D015674||animal mammary carcinoma D015674||animal mammary carcinomas D015674||animal mammary neoplasm D015674||animal mammary neoplasms D015674||carcinoma animal mammary D015674||carcinomas animal mammary D015674||mammary carcinoma animal D015674||mammary carcinomas animal D015674||mammary neoplasm D015674||mammary neoplasm animal D015674||mammary neoplasms D015674||neoplasm animal mammary D015674||neoplasm mammary D015674||neoplasms animal mammary D015674||neoplasms mammary C580199||inherited thyroxine binding globulin deficiency C580199||tbg deficiency D015673||fatigue syndrome chronic D015673||chronic fatigue and immune dysfunction syndrome D015673||chronic fatigue disorder D015673||chronic fatigue disorders D015673||chronic fatigue fibromyalgia syndrome D015673||chronic fatigue fibromyalgia syndromes D015673||chronic fatigue syndrome D015673||chronic fatigue syndromes D015673||disorders chronic fatigue D015673||encephalomyelitis myalgic D015673||fatigue disorder chronic D015673||fatigue disorders chronic D015673||fatigue fibromyalgia syndrome chronic D015673||fatigue fibromyalgia syndromes chronic D015673||fatigue syndrome postviral D015673||fatigue syndromes chronic D015673||fatigue syndromes postviral D015673||infectious mononucleosis like syndrome chronic D015673||myalgic encephalomyelitis D015673||postviral fatigue syndrome D015673||postviral fatigue syndromes D015673||royal free disease D015673||syndrome chronic fatigue fibromyalgia D015673||syndromes chronic fatigue fibromyalgia D015673||syndromes postviral fatigue C536039||osteogenesis imperfecta levin type C536039|166260||gnathodiaphyseal dysplasia C536039|166260||gnathodiaphyseal sclerosis C536039||levin syndrome 2 C536039|166260||osteogenesis imperfecta with unusual skeletal lesions 174500|C536311||polydactyly preaxial ii 174500|C536311||polydactyly of triphalangeal thumb 174500||ppd2 174500||tpt included 174500||tpt ps syndrome included 174500||triphalangeal thumb included 174500||triphalangeal thumb polydactyly syndrome triphalangeal thumb with polysyndactyly included 174500||triphalangeal thumb polysyndactyly syndrome included C580192||immune dysregulation polyendocrinopathy enteropathy x linked syndrome C580192||ipex syndrome C548030||knobloch syndrome type ii C537385||muscular dystrophy congenital infantile with cataract and hypogonadism C537385||familial congenital muscular dystrophy with gonadal dysgenesis C537385||muscular dystrophy congenital with infantile cataract and hypogonadism C536054||whyte murphy syndrome C536054||osteopathia striata associated with familial dermopathy and white forelock C537386||neuroaxonal dystrophy renal tubular acidosis C537386||maccario mena weir syndrome C536055||osteopetrosis and infantile neuroaxonal dystrophy C536055||infantile osteopetrosis and neuronal storage disease C536055||prenatal axonal dystrophy and osteopetrosis C536052||osteolysis syndrome recessive C536052||osteolysis distal with short stature mental retardation and characteristic facial appearance D001049||apnea D001049||apneas C564964||leigh syndrome due to mitochondrial complex v deficiency C563633||lattice degeneration of retina leading to retinal detachment C537389||neurofibromatosis type 3 mixed central and peripheral C537389||neurofibromas palmar cutaneous C537389||neurofibromatosis type 3 riccardi type C537389||neurofibromatosis type iii mixed central and peripheral C537389||neurofibromatosis type iii of riccardi C537389||neurofibromatosis type iii riccardi type C564963||leigh syndrome due to mitochondrial complex iv deficiency C563632||leg ulcers familial of juvenile onset C536059|259710||osteopetrosis mild autosomal recessive form C536059||mild autosomal recessive form of osteopetrosis C536059|259710||osteopetrosis autosomal recessive 2 C536059|259710||osteopetrosis osteoclast poor C564962||leigh syndrome due to mitochondrial complex iii deficiency C537387||neurocutaneous melanosis C537387||melanosis neurocutaneous C537387||neurocutaneous melanosis syndrome 304150|C537860||occipital horn syndrome 304150|C537860||cutis laxa x linked 304150|C537860||cutis laxa x linked formerly 304150|C537860||eds9 formerly 304150|C537860||eds ix formerly 304150|C537860||ehlers danlos syndrome occipital horn type formerly 304150|C537860||ohs C564961||leigh syndrome due to mitochondrial complex ii deficiency C563630||lentiginosis centrofacial neurodysraphic C563630||lentiginosis touraine type C537388||neurofaciodigitorenal syndrome C537388||freire maia pinheiro opitz syndrome C536057||osteopetrosis lethal C536057||autosomal malignant osteopetrosis C536057||lethal osteopetrosis C563637||larynx congenital partial atresia of D001044||aphonia D001044||absence of voice D001044||aphonia functional D001044||aphonia nonorganic D001044||aphonia paralytica D001044||aphonias functional D001044||aphonias nonorganic D001044||aphonia spastic D001044||aphonias spastic D001044||functional aphonia D001044||functional aphonias D001044||nonorganic aphonia D001044||nonorganic aphonias D001044||paralytica aphonia D001044||spastic aphonia D001044||spastic aphonias D001044||voice absence D001044||voice absences C564967||myotonia with skeletal abnormalities and mental retardation C563636||laryngeal web familial C563636||glottic web congenital anterior C563634||tooth agenesis selective 4 C563634||lateral incisors absence of C563634||lateral incisors pegged or missing C563634||sthag4 C563634||succedaneous teeth agenesis of D001041||aphasia wernicke D001041||aphasia fluent D001041||aphasia jargon D001041||aphasia posterior D001041||aphasia psychosensory D001041||aphasia receptive D001041||aphasia sensory D001041||aphasias jargon D001041||aphasias posterior D001041||aphasias psychosensory D001041||aphasias wernicke D001041||aphasia wernicke apos s fluent D001041||dysphasia fluent D001041||dysphasia receptive D001041||dysphasia sensory D001041||dysphasias fluent D001041||dysphasias receptive D001041||dysphasias sensory D001041||dysphasia wernicke D001041||dysphasia wernickes D001041||dysphasia wernicke apos s D001041||fluent aphasia D001041||fluent aphasia wernicke D001041||fluent aphasia wernickes D001041||fluent aphasia wernicke apos s D001041||fluent dysphasia D001041||fluent dysphasias D001041||jargon aphasia D001041||jargon aphasias D001041||posterior aphasia D001041||posterior aphasias D001041||psychosensory aphasia D001041||psychosensory aphasias D001041||receptive aphasia D001041||receptive dysphasia D001041||receptive dysphasias D001041||sensory aphasia D001041||sensory dysphasia D001041||sensory dysphasias D001041||wernicke aphasia D001041||wernicke aphasias D001041||wernicke dysphasia D001041||wernicke apos s dysphasia D001041||wernicke apos s fluent aphasia C537381||multiple system atrophy msa with orthostatic hypotension D002372||cat scratch disease D002372||catscratch disease D002372||disease catscratch D002372||disease cat scratch D002372||inoculation lymphoreticuloses D002372||inoculation lymphoreticulosis D002372||inoculative lymphoreticuloses D002372||inoculative lymphoreticulosis D002372||lymphoreticuloses inoculation D002372||lymphoreticuloses inoculative D002372||lymphoreticulosis inoculation D002372||lymphoreticulosis inoculative C536968|602124||torsion dystonia 7 C536968|602124||dystonia 7 torsion C536968|602124||dyt7 C536968|602124||primary adult onset torsion dystonia C536968|602124||torsion dystonia focal adult onset C536968|602124||torsion dystonia focal adult onset cervical dystonia primary included 173900|D007690||polycystic kidney diseases 173900|D007690||apkd included 173900|D007690||disease polycystic kidney 173900|D007690||disease polycystic renal 173900|D007690||diseases polycystic kidney 173900|D007690||diseases polycystic renal 173900|D007690||kidney disease polycystic 173900|D007690||kidney diseases polycystic 173900|D007690||kidney polycystic 173900|D007690||kidneys polycystic 173900|D007690||pkd1 173900|D007690||polycystic kidney 173900|D007690||polycystic kidney disease 173900|D007690||polycystic kidney disease 1 173900|D007690||polycystic kidney disease adult type i apkd1 polycystic kidney disease adult included 173900|D007690||polycystic kidneys 173900|D007690||polycystic renal disease 173900|D007690||polycystic renal diseases 173900|D007690||potter type iii polycystic kidney disease included 173900|D007690||renal disease polycystic 173900|D007690||renal diseases polycystic C563639||cutis laxa marfanoid syndrome C563639||neonatal cutis laxa with marfanoid phenotype D002375||catalepsy D002375||anochlesia D002375||anochlesias D002375||catalepsies D002375||cerea flexibilitas D002375||flexibilitas cerea D002375||flexibilities waxy D002375||flexibility waxy D002375||waxy flexibilities D002375||waxy flexibility C567060|313500||tooth agenesis selective x linked 1 C567060|313500||hypodontia oligodontia x linked 1 C567060|313500||sthagx1 306400|C564417||granulomatous disease chronic x linked 306400|C564417||cgd 306400|C564417||chronic granulomatous disease atypical 306400|C564417||chronic granulomatous disease atypical included 306400|C564417||chronic granulomatous disease x linked 306400|C564417||chronic granulomatous disease x linked cytochrome b positive granulomatous disease chronic x linked included 306400|C564417||cytochrome b negative granulomatous disease chronic x linked 306400|C564417||cytochrome b positive granulomatous disease chronic x linked 306400|C564417||granulomatous disease chronic x linked variant 306400|C564417||granulomatous disease chronic x linked variant included C565325|605526||alzheimer disease 6 C565325|605526||ad6 C565325|605526||alzheimer disease 6 late onset C565325|605526||alzheimer disease 6 late onset plasma beta amyloid 42 level quantitative trait locus included 606771||adiponectin serum level of quantitative trait locus 3 606771||adipqtl3 606771||caq14 606771||circulating adiponectin quantitative trait locus on chromosome 14 C548027||idiopathic juxtafoveal retinal telangiectasia 606770||adiponectin serum level of quantitative trait locus 2 606770||adipqtl2 606770||caq5 606770||circulating adiponectin quantitative trait locus on chromosome 5 D056735|601859||autoimmune lymphoproliferative syndrome D056735|601859||alps D056735|601859||alps1a included D056735|601859||alps1b included D056735|601859||alps2b D056735|601859||autoimmune lymphoproliferative syndromes D056735|601859||autoimmune lymphoproliferative syndrome type 1 autosomal dominant D056735|601859||autoimmune lymphoproliferative syndrome type 2b D056735|601859||autoimmune lymphoproliferative syndrome type 2b alps2b D056735|601859||autoimmune lymphoproliferative syndrome type i autosomal dominant D056735|601859||autoimmune lymphoproliferative syndrome type i autosomal dominant autoimmune lymphoproliferative syndrome type ia included D056735|601859||autoimmune lymphoproliferative syndrome type i autosomal recessive included D056735|601859||autoimmune lymphoproliferative syndrome type ib included D056735|601859||autoimmune lymphoproliferative syndrome type iib D056735|601859||canale smith syndrome D056735|601859||canale smith syndromes D056735|601859||caspase 8 deficiencies D056735|601859||caspase 8 deficiency D056735|601859||ceds D056735|601859||deficiencies caspase 8 D056735|601859||deficiency caspase 8 D056735|601859||lymphoproliferative syndrome autoimmune D056735|601859||lymphoproliferative syndromes autoimmune D056735|601859||syndrome autoimmune lymphoproliferative D056735|601859||syndrome canale smith D056735|601859||syndromes autoimmune lymphoproliferative D056735|601859||syndromes canale smith D014354||trypanosomiasis bovine D014354||bovine trypanosomiases D014354||bovine trypanosomiasis D014354||trypanosomiases bovine D014353||trypanosomiasis african D014353||african sleeping sickness D014353||african sleeping sicknesses D014353||african trypanosomiases D014353||african trypanosomiasis D014353||nagana D014353||sickness african sleeping D014353||sicknesses african sleeping D014353||sleeping sickness african D014353||sleeping sicknesses african D014353||trypanosomiases african D014352||trypanosomiasis D014352||trypanosomiases D014355||chagas disease D014355||american trypanosomiasis D014355||chagas apos disease D014355||disease chagas D014355||disease chagas apos D014355||south american trypanosomiasis D014355||trypanosomiasis american D014355||trypanosomiasis south american D001139||arnold chiari malformation D001139||arnold chiari deformity D001139||arnold chiari malformation type 1 D001139||arnold chiari malformation type 2 D001139||arnold chiari malformation type 3 D001139||arnold chiari malformation type 4 D001139||arnold chiari malformation type i D001139||arnold chiari malformation type ii D001139||arnold chiari malformation type iii D001139||arnold chiari malformation type iv D001139||arnold chiari syndrome D001139||chiari malformation type i D001139||deformity arnold chiari D001139||malformation arnold chiari D001139||syndrome arnold chiari D001139||type i arnold chiari malformation D001139||type ii arnold chiari malformation D001139||type iii arnold chiari malformation D001139||type iv arnold chiari malformation C537430||arima syndrome C537430||cerebro oculo hepato renal syndrome C537430||chorioretinal coloboma with cerebellar vermis aplasia C537430||coloboma chorioretinal with cerebellar vermis aplasia C537430||dekaban arima syndrome C537430||joubert syndrome with bilateral chorioretinal coloboma C566869|163500||night blindness congenital stationary autosomal dominant 2 C566869|163500||csnbad2 C566869|163500||night blindness congenital stationary rambusch type C536102||myopathy congenital nonprogressive with moebius and robin sequences C536102||carey fineman ziter syndrome C536102||congenital nonprogressive myopathy with moebius and robin sequence C536102||moebius sequence robin complex and hypotonia C536102||myopathy congenital nonprogressive with moebius sequence and robin sequence C536103||myopathy desmin storage C536103||cardiomyopathy due to desmin defect C536103||desmin storage myopathy C536103||myopathy with sarcoplasmic bodies and intermediate filaments C537431||arnold stickler bourne syndrome C537431||corneal crystals myopathy and nephropathy C536100||myopathic carnitine deficiency C536100||carnitine deficiency myopathic C563725|189800|D011225||preeclampsia eclampsia 3 C563724|189800|D011225||preeclampsia eclampsia 4 C567480|300696||myopathy x linked with postural muscle atrophy C567480|300696||edmd6 included C567480|300696||emery dreifuss muscular dystrophy 6 x linked included C567480|300696||xmpma C563885|608652||deafness autosomal dominant 47 C563885|608652||dfna47 D001134||arm injuries D001134||arm injury D001134||injuries arm D001134||injury arm C563726|189800|D011225||preeclampsia eclampsia 2 217700|C536439||corneal endothelial dystrophy type 2 217700|C536439||ched2 217700|C536439|121700||congenital hereditary endothelial dystrophy of cornea 217700|C536439||congenital hereditary endothelial dystrophy of the cornea 217700|C536439|121700||corneal dystrophy congenital hereditary endothelial 217700|C536439||corneal endothelial dystrophy 2 217700|C536439||corneal endothelial dystrophy 2 autosomal recessive 217700|C536439|121700||maumenee corneal dystrophy D013118||spinal cord diseases D013118||myelopathies D013118||myelopathy D013118||spinal cord disease D013118||spinal cord disorder D013118||spinal cord disorders D013119||spinal cord injuries D013119||contusion spinal cord D013119||contusions spinal cord D013119||cord contusion spinal D013119||cord contusions spinal D013119||cord injuries spinal D013119||cord injury spinal D013119||cord laceration spinal D013119||cord lacerations spinal D013119||cord transection spinal D013119||cord transections spinal D013119||cord trauma spinal D013119||cord traumas spinal D013119||injuries spinal cord D013119||injury spinal cord D013119||laceration spinal cord D013119||lacerations spinal cord D013119||myelopathies post traumatic D013119||myelopathies traumatic D013119||myelopathy post traumatic D013119||myelopathy traumatic D013119||post traumatic myelopathies D013119||post traumatic myelopathy D013119||spinal cord contusion D013119||spinal cord contusions D013119||spinal cord injury D013119||spinal cord laceration D013119||spinal cord lacerations D013119||spinal cord transection D013119||spinal cord transections D013119||spinal cord trauma D013119||spinal cord traumas D013119||transection spinal cord D013119||transections spinal cord D013119||trauma spinal cord D013119||traumas spinal cord D013119||traumatic myelopathies D013119||traumatic myelopathy D013117||spinal cord compression D013117||compression spinal cord D013117||compressions spinal cord D013117||compressive myelopathy D013117||conus medullaris syndrome D013117||conus medullaris syndromes D013117||extramedullary spinal cord compression D013117||myelopathy compressive D013117||spinal cord compression extramedullary D013117||spinal cord compressions D013117||syndrome conus medullaris D013117||syndromes conus medullaris C563327|601386||deafness autosomal recessive 12 C563327|601386||dfnb12 C537426||arakawa syndrome 2 C537426||arakawa apos s syndrome 2 C537426||n5 methylhomocysteine transferase deficiency C537426||tetrahydrofolate methyltransferase deficiency syndrome C537427||aredyld syndrome C537427||acral renal ectodermal dysplasia lipoatrophic diabetes C537427||acrorenal field defect ectodermal dysplasia and lipoatrophic diabetes C537427||aredyld C537424||arachnodactyly ataxia cataract aminoaciduria mental retardation D010381|169400||pelger huet anomaly D010381|169400||anomaly pelger huet D010381|169400||anomaly pelger hu 235 t D010381|169400||anomaly pelger huet nuclear D010381|169400||anomaly pelger hu 235 t nuclear D010381|169400||anomaly pseudo pelger huet D010381|169400||anomaly pseudo pelger hu 235 t D010381|169400||nuclear anomaly pelger huet D010381|169400||nuclear anomaly pelger hu 235 t D010381|169400||ovoid neutrophil nuclei developmental delay epilepsy and skeletal abnormalities D010381|169400||pelger hu 235 t anomaly D010381|169400||pelger huet anomaly pseudo D010381|169400||pelger hu 235 t anomaly pseudo D010381|169400||pelger huet nuclear anomaly D010381|169400||pelger hu 235 t nuclear anomaly D010381|169400||pha D010381|169400||pseudo pelger huet anomaly D010381|169400||pseudo pelger hu 235 t anomaly D010381|169400||pseudo pelger huet nuclear anomaly D015776||keratoderma palmoplantar diffuse D015776||syndrome thost unna D015776||syndrome unna thost D015776||thost unna syndrome D015776||unna thost syndrome C537428||arena syndrome C537428||spastic paraplegia with iron deposits in basal ganglia D015775||fractures stress D015775||fatigue fracture D015775||fatigue fractures D015775||fracture fatigue D015775||fracture insufficiency D015775||fracture march D015775||fractures fatigue D015775||fractures insufficiency D015775||fractures march D015775||fracture stress D015775||insufficiency fracture D015775||insufficiency fractures D015775||march fracture D015775||march fractures D015775||stress fracture D015775||stress fractures C537429||arhinia choanal atresia and microphthalmia C537429||bosma arhinia microphthalmia syndrome C537441||arthrogryposis and ectodermal dysplasia C537441||alves syndrome C537441||arthrogryposis ectodermal dysplasia other anomalies C537441||cote adamopoulos pantelakis syndrome C537441||todv syndrome C537441||trichooculodermovertebral syndrome C536110||nablus mask like facial syndrome C562400||hyperpigmentation of eyelids C537444||mental retardation mietens weber type C537444||mental retardation syndrome mietens weber type C537444||mietens weber syndrome C536113||cerebral gigantism nevo type C563731||cerebrorenodigital syndrome with limb malformations and triradiate acetabula 164200|C563160||oculodentodigital dysplasia 164200|C563160||oculo dento digital dysplasia 164200|C563160||oculodentodigital syndrome 164200|C563160||oculodentoosseous dysplasia 164200|C563160||oculo dento osseous dysplasia 164200|C563160||oddd 164200|C563160||odd syndrome 164200|C563160||odod 164200|C563160||osseous oculo dental dysplasia C562401||pseudopapilledema C537445||mental retardation smith fineman myers type C537445||smith fineman myers syndrome D009634|163950||noonan syndrome D009634|163950||familial turner syndrome D009634|163950||female pseudo turner syndrome D009634|163950||male turner apos s syndrome D009634|163950||male turner syndrome D009634|163950||noonan ehmke syndrome D009634|163950||noonan syndrome 1 D009634|163950||ns1 D009634|163950||pseudo turner syndrome female D009634|163950||pseudo ullrich turner syndrome D009634|163950||syndrome familial turner D009634|163950||syndrome female pseudo turner D009634|163950||syndrome male turner D009634|163950||syndrome male turner apos s D009634|163950||syndrome noonan D009634|163950||syndrome noonan ehmke D009634|163950||syndrome pseudo ullrich turner D009634|163950||syndrome turner like D009634|163950||syndrome ullrich noonan D009634|163950||turner like syndrome D009634|163950||turner phenotype with normal karyotype D009634|163950||turner phenotype with normal karyotype pterygium colli syndrome included D009634|163950||turner apos s phenotype karyotype normal D009634|163950||turner apos s syndrome male D009634|163950||turner syndrome familial D009634|163950||turner syndrome male D009634|163950||ullrich noonan syndrome C537442||arthrogryposis epileptic seizures migrational brain disorder C537442||arthrogryposis multiplex congenita with epileptic seizures and migrational brain disorder C536111||partial agenesis of corpus callosum C536112||partial atrioventricular canal C536112||partial atrioventricular septal defects C536112||partial common atrioventricular canal C563736||epiphyseal dysplasia multiple with severe proximal femoral dysplasia C562404||pulmonary arteriovenous fistulas C563735||epiphyseal dysplasia multiple with miniepiphyses C563734||chromosome 18 pericentric inversion D010981|185050||platelet storage pool deficiency D010981|185050||acquired storage pool disease D010981|185050||deficiencies storage pool D010981|185050||deficiency platelet storage pool D010981|185050||deficiency storage pool D010981|185050||familial platelet storage pool disease D010981|185050||platelet storage pool deficiencies D010981|185050||platelet storage pool disease D010981|185050||storage pool deficiencies D010981|185050||storage pool deficiency D010981|185050||storage pool deficiency platelet D010981|185050||storage pool platelet disease C562408||radioulnar synostosis D002471||cell transformation neoplastic D002471||cell neoplastic transformation D002471||cell neoplastic transformations D002471||cell transformations neoplastic D002471||neoplastic cell transformation D002471||neoplastic cell transformations D002471||neoplastic transformation cell D002471||neoplastic transformations cell D002471||transformation cell neoplastic D002471||transformation neoplastic cell D002471||transformations cell neoplastic D002471||transformations neoplastic cell D002471||transformations tumorigenic D002471||transformation tumorigenic D002471||tumorigenic transformation D002471||tumorigenic transformations D001146||arrhythmia sinus D001146||arrhythmia sinoatrial D001146||arrhythmias sinoatrial D001146||arrhythmias sinus D001146||sinoatrial arrhythmia D001146||sinoatrial arrhythmias D001146||sinus arrhythmia D001146||sinus arrhythmias D002472||cell transformation viral D002472||cell transformations viral D002472||transformations viral cell D002472||transformation viral cell D002472||viral cell transformation D002472||viral cell transformations C562406||bladder diverticulum C563737||teratoid tumor atypical 613843||leber congenital amaurosis 15 613843||lca15 613843||retinitis pigmentosa juvenile tulp1 related included D013128||spinal osteophytosis D013128||osteophytoses spinal D013128||osteophytosis spinal D013128||spinal osteophytoses D002481||cellulitis D002481||phlegmon D014458||ulna fractures D014458||fractures ulna D014458||fracture ulna D014458||ulna fracture 173650|C536321||poikiloderma of kindler 173650|C536321||bullous acrokeratotic poikiloderma of kindler and weary 173650|C536321||congenital bullous poikiloderma 173650|C536321||kindler syndrome 173650|C536321||poikiloderma congenital with bullae weary type 173650|C536321||poikiloderma hereditary acrokeratotic D013121||spinal curvatures D013121||curvature spinal D013121||curvatures spinal D013121||spinal curvature C536106||myostatin related muscle hypertrophy C536106||muscle hypertrophy syndrome C565129|123790||cutis gyrata syndrome of beare and stevenson C565129|123790||beare stevenson cutis gyrata syndrome C565129|123790||beare stevenson syndrome C565129|123790||bstvs C565129|123790||cutis gyrata syndrome of beare stevenson C537438||arrhinia C537438||congenital absence of the nose C537438||nose agenesia D013122||spinal diseases D013122||disease spinal D013122||diseases spinal D013122||spinal disease C536107||n acetyltransferase deficiency C536107||n acetyltransferase 1 deficiency C536107||nat1 deficiency D015783||absent iris D015783||congenital aniridia D015783||irideremia C536104|C536169|112250||myopathy limb girdle with bone fragility D013120||spinal cord neoplasms D013120||intradural extramedullary spinal cord neoplasms D013120||intramedullary spinal cord neoplasms D013120||intramedullary spinal cord neoplasms primary D013120||neoplasm spinal cord D013120||neoplasms spinal cord D013120||primary intramedullary spinal cord neoplasms D013120||primary spinal cord neoplasms intramedullary D013120||spinal cord neoplasm D013120||spinal cord neoplasms benign D013120||spinal cord neoplasms intradural extramedullary D013120||spinal cord neoplasms intramedullary D013120||spinal cord neoplasms malignant D013120||spinal cord neoplasms primary intramedullary D013120||spinal cord tumor D013120||spinal cord tumors D013120||tumor spinal cord D013120||tumors spinal cord D013125||spinal neoplasms D013125||neoplasm spinal D013125||neoplasms spinal D013125||spinal neoplasm D014456||ulcer D014456||ulcers D015787||erythema chronicum migrans C537439||arroyo garcia cimadevilla syndrome C537439||bilateral anophthalmia esophageal atresia and right cryptorchidism D013124||spinal injuries D013124||injuries spinal D013124||injury spinal D013124||spinal injury D015785||eye diseases hereditary D015785||disease hereditary eye D015785||diseases hereditary eye D015785||eye disease hereditary D015785||hereditary eye disease D015785||hereditary eye diseases 600512||epilepsy familial temporal lobe 1 600512||adlte 600512||adpeaf 600512|C537297||epilepsy lateral temporal lobe autosomal dominant 600512|C537297||epilepsy partial with auditory features 600512||etl1 C536120||nievergelt syndrome C536120||mesomelic dwarfism nievergelt type C536120||mesomelic dysplasia nievergelt type D001117||arenaviridae infections D001117||arenaviridae infection D001117||arenavirus infection D001117||arenavirus infections D001117||infection arenaviridae D001117||infection arenavirus D001117||infections arenaviridae D001117||infections arenavirus C537452||mental retardation keratoconus febrile seizures and sinoatrial block C536121||night blindness skeletal anomalies unusual facies C536121||hunter thomson reed syndrome C537450||mental retardation x linked south african type C536124||noble bass sherman syndrome C536124||ectopia lentis chorioretinal dystrophy myopia C536824|600975||glaucoma 3 primary infantile b C536824|600975||glaucoma primary congenital type 3b C536824|600975||glaucoma primary congenital type b C536824|600975||glc3b C536824|600975||glc3 type b C536824|600975||primary congenital glaucoma type 3b C537453||mental retardation macrocephaly short stature and craniofacial dysmorphism C537453||fryns dereymaeker haegeman syndrome C536122||night blindness congenital stationary C536122||congenital stationary night blindness C536122|257270||csnb1b C536122||myopia night blindness C536122|257270||night blindness congenital stationary complete autosomal recessive C536122||night blindness congenital stationary type 1 C536122|257270||night blindness congenital stationary type 1b C536122||xlcsnb C536122||x linked congenital stationary night blindness C536122||x linked csnb C536123||nivelon nivelon mabille syndrome C536123||chondrodysplasia pseudohermaphrodism syndrome C536123||chondrodysplasia pseudohermaphroditism syndrome C536123||pseudohermaphrodism and chondrodysplasia D003773||dental plaque D003773||plaque dental C563701||omphalocele diaphragmatic hernia and radial ray defects C563701||gershoni baruch syndrome D001112||arcus senilis D001112||arcus corneae D001112||arcus corneal D001112||corneal arcus 253000|D009085||mucopolysaccharidosis type iva 253000|D009085||mps4a morquio syndrome a 253000|D009085||mps iva 253000|D009085||morquio a disease 253000|D009085||galactosamine 6 sulfatase deficiency 253000|D009085||galns deficiency C563704||proguanil poor metabolism of D014428||twins conjoined D014428||conjoined twin D014428||conjoined twins D014428||siamese twin D014428||siamese twins D014428||twin conjoined D014428||twin siamese D014428||twins siamese C565162|121210||febrile convulsions familial 1 C565162|121210||1 C565162|121210||convulsions familial febrile C565162|121210||convulsions familial febrile 1 C565162|121210||feb1 C565162|121210||febrile seizures familial 1 C565162|121210||seizures familial 1 C563708||amyotrophic lateral sclerosis chmp2b related 613825||c9d C567484|300243||mental retardation x linked syndromic christianson type C567484|300243||angelman like syndrome x linked C567484|300243||christianson syndrome C567484|300243||intellectual deficit x linked south african type C567484|300243||mental retardation microcephaly epilepsy and ataxia syndrome C567484|300243||mrxsch C536176|261670||dimauro disease C536176|261670||deficiency mutase phosphoglycerate C536176|261670||glycogen storage disease x C536176|261670||gsd10 C536176|261670||gsd x C536176|261670||human muscle phosphoglycerate mutase deficiency C536176|261670||myopathy due to phosphoglycerate mutase deficiency C536176|261670||pgam deficiency C536176|261670||pgamm deficiency C536176|261670||phosphoglycerate mutase deficiency C536176|261670||phosphoglycerate mutase muscle deficiency of 613828||generalized epilepsy with febrile seizures plus type 8 613828||gefs 8 613828||gefsp8 613828||gefs type 8 C537448||mental retardation wolff type C537448||wolff mental retardation syndrome C537448||wolff type mental retardation C537448||wolff zimmermann syndrome C537446||mental retardation spasticity ectrodactyly C537446||ectrodactyly spastic paraplegia and mental retardation C537446||jancar syndrome C537446||mental retardation spasticity and transverse limb defects C536115||nguyen syndrome C537447||mental retardation syndrome belgian type C537447||belgian type mental retardation syndrome C536116||nicolaides baraitser syndrome C536116||sparse hair and mental retardation D014424||turner syndrome D014424||bonnevie ullrich syndrome D014424||gonadal dysgenesis 45 x D014424||gonadal dysgenesis xo D014424||monosomy x D014424||status bonnevie ullrich D014424||syndrome ullrich turner D014424||turner apos s syndrome D014424||turners syndrome D014424||ullrich turner syndrome D014424||xo gonadal dysgenesis C567772|613071||bronchiectasis with or without elevated sweat chloride 3 C567772|613071||besc3 C537017|313200||bulbospinal neuronopathy x linked recessive C537017|313200|D055534||bulbospinal muscular atrophy x linked C537017|313200|D055534||kennedy disease C537017|313200|D055534||kennedy spinal and bulbar muscular atrophy C537017|313200||sbma C537017|313200||smax1 C537017|313200|D055534||spinal and bulbar muscular atrophy x linked 1 C537017|313200||xbsn D001129||argyria D001129||argyrias C537462||microphthalmia and mental deficiency C537462||colobomatous microphthalmia C537462||microphthalmia colobomatous C537462||microphthalmos severe mental retardation and spastic cerebral palsy C537462||pinsky digeorge harley syndrome C537463||microphthalmia associated with colobomatous cyst C537463||microphthalmos bilateral colobomatous orbital cyst C537461||merlob grunebaum reisner syndrome C565319|605583||deafness autosomal dominant 25 C565319|605583||dfna25 C563710||rhegmatogenous retinal detachment autosomal dominant D003788||dental pulp diseases D003788||dental pulp disease D003788||disease dental pulp D003788||diseases dental pulp D003788||pulp disease dental D003788||pulp diseases dental C536135||median cleft lip corpus callosum lipoma and skin polyps C536135||cleft median of upper lip with polyps of facial skin and nasal mucosa C536135||pai levkoff syndrome C536135||pai syndrome D003789||dental pulp exposure D003789||exposure dental pulp D003789||pulp exposure dental C536136||mediastinal fibrosis C536136||fibrosing mediastinitis C536136||idiopathic mediastinal fibrosis C536136||sclerosing mediastinitis C536134||medial medullary syndrome C565326|605463||radiation sensitivity chromosome instability syndrome autosomal dominant D003784||dental pulp calcification D003784|125420||anomalous dysplasia of dentin D003784||calcification dental pulp D003784||calcifications dental pulp D003784|125420||coronal dentin dysplasia D003784||coronal dentin dysplasias D003784||dental pulp calcifications D003784||dental pulp stone D003784||dental pulp stones D003784||denticle D003784||denticles D003784||dentin anomalous dysplasia D003784||dentin anomalous dysplasias D003784||dentin dyspalsia shields type 2 D003784||dentin dysplasia coronal D003784||dentin dysplasias coronal D003784|125420||dentin dysplasia shields type ii D003784|125420||dentin dysplasia type ii D003784||dysplasia coronal dentin D003784||dysplasia pulpal D003784||dysplasias coronal dentin D003784||dysplasias pulpal D003784|125420||pulpal dysplasia D003784||pulpal dysplasias D003784||pulp calcification dental D003784||pulp calcifications dental D003784||pulp stone D003784||pulp stone dental D003784|125420||pulp stones D003784||pulp stones dental D003784||stone dental pulp D003784||stone pulp D003784||stones dental pulp D003784||stones pulp C563712||noncompaction of left ventricular myocardium familial isolated autosomal dominant 2 C563718||myopathy myofibrillar zasp related C563718||mfm zasp related C537858|136520||o apos donnell pappas syndrome C537858|136520||foveal hypoplasia 1 C537858|136520||foveal hypoplasia and presenile cataract syndrome C537858|136520||foveal hypoplasia congenital nystagmus corneal pannus and presenile cataracts C537858|136520||foveal hypoplasia presenile cataract C537858|136520||foveal hypoplasia with or without anterior segment anomalies and or cataract C537858|136520||fvh1 D014438||typhus epidemic louse borne D014438||brill disease D014438||brill apos s disease D014438||brills disease D014438||brill zinsser disease D014438||disease brill D014438||disease brill apos s D014438||disease brill zinsser D014438||epidemic louse borne typhus D014438||epidemic typhus D014438||fever jail D014438||fevers jail D014438||jail fever D014438||jail fevers D014438||louse borne typhus epidemic D014438||typhus D014438||typhus epidemic D015769||granuloma respiratory tract D015769||granulomas respiratory tract D015769||respiratory tract granuloma D015769||respiratory tract granulomas D014437||typhus endemic flea borne D014437||endemic flea borne typhus D014437||endemic typhus D014437||flea borne typhus endemic D014437||murine typhus D014437||typhus endemic D014437||typhus murine D003790||dental pulp necrosis D003790||autolyses dental pulp D003790||autolysis dental pulp D003790||dental pulp autolyses D003790||dental pulp autolysis D003790||dental pulp gangrene D003790||dental pulp necroses D003790||gangrene dental pulp D003790||gangrene pulp D003790||gangrenes pulp D003790||mummification pulp D003790||mummifications pulp D003790||necroses dental pulp D003790||necroses pulp D003790||necrosis dental pulp D003790||necrosis pulp D003790||pulp autolyses dental D003790||pulp autolysis dental D003790||pulp gangrene D003790||pulp gangrene dental D003790||pulp gangrenes D003790||pulp mummification D003790||pulp mummifications D003790||pulp necroses D003790||pulp necroses dental D003790||pulp necrosis D003790||pulp necrosis dental D013106||sphingolipidoses D013106||sphingolipidosis D013106||sphingolipid storage disease D013106||sphingolipid storage diseases D013106||storage disease sphingolipid D013106||storage diseases sphingolipid D017085|604131||alpha thalassemia D017085|604131||alpha thalassemias D017085|604131||a thalassemia D017085|604131||disease hemoglobin h D017085|604131||hemoglobin h disease D017085|604131||thalassemia alpha C536126||non functioning pancreatic endocrine tumor C536126||non functioning endocrine pancreatic tumors C537458||meralgia paresthetica C537458||bernhardt roth syndrome C537458||lateral femoral cutaneous nerve entrapment D051303||trigeminal autonomic cephalalgias D051303||cephalalgias trigeminal autonomic D051303||cephalalgia trigeminal autonomic D051303||trigeminal autonomic cephalalgia D013103||spherocytosis hereditary D013103||hereditary spherocytoses D013103||spherocytoses hereditary D014435||typhoid fever D014435||abdominal typhus D014435||enteric fever D014435||enteric fevers D014435||fever enteric D014435||fevers enteric D014435||fevers typhoid D014435||fever typhoid D014435||typhoid D014435||typhoid fevers D014435||typhoids D014435||typhus abdominal C580280||congenital methemoglobinemia D051302||paroxysmal hemicrania D051302||chronic paroxysmal hemicrania D051302||chronic paroxysmal hemicranias D051302||episodic paroxysmal hemicrania D051302||episodic paroxysmal hemicranias D051302||hemicrania chronic paroxysmal D051302||hemicrania episodic paroxysmal D051302||hemicrania paroxysmal D051302||hemicranias chronic paroxysmal D051302||hemicranias episodic paroxysmal D051302||hemicranias paroxysmal D051302||paroxysmal hemicrania chronic D051302||paroxysmal hemicrania episodic D051302||paroxysmal hemicranias D051302||paroxysmal hemicranias chronic D051302||paroxysmal hemicranias episodic D002429||cecal diseases D002429||cecal disease D002429||disease cecal D002429||diseases cecal C567289||chromosome 2p16 1 p15 deletion syndrome C563412|175050||juvenile polyposis with hereditary hemorrhagic telangiectasia C563412|175050||jphht syndrome C563412|175050||jp hht syndrome C563412|175050||jpht C563412|175050||jpshht C563412|175050||jps hht C563412|175050||juvenile polyposis hereditary hemorrhagic telangiectasia syndrome C563412|175050||polyposis generalized juvenile with pulmonary arteriovenous malformation C563412|175050||telangiectasia hereditary hemorrhagic with juvenile polyposis coli D003751||dental fistula D003751||dental fistulas D003751||fistula dental D003751||fistula gingival D003751||fistulas dental D003751||fistulas gingival D003751||gingival fistula D003751||gingival fistulas D002422||causalgia D002422||causalgia syndrome D002422||causalgia syndromes D002422||complex regional pain syndrome type ii D002422||crps type ii D002422||deafferentation pain D002422||pain deafferentation D002422||syndrome causalgia D002422||syndromes causalgia D002422||type ii complex regional pain syndrome 231050||geleophysic dysplasia 1 231050||gphysd1 D003750||dental fissures D003750||dental fissure D003750||fissure dental D003750||fissures dental D014406||tularemia D014406||francisella tularensis infection D014406||francisella tularensis infections D014406||infection francisella tularensis D014406||infections francisella tularensis D014406||tularemias C567291||chromosome 1q21 1 deletion syndrome 1 35 mb C567291||1q21 1 contiguous gene deletion C567291||1q21 1 deletion C567291||1q21 1 microdeletion C567291||chromosome 1q21 1 deletion syndrome C535334|600501||abcd syndrome C535334|600501||abcds C535334|600501||albinism black lock cell migration disorder of the neurocytes of the gut and deafness C567290||chromosome 1q21 1 duplication syndrome D006509|610424||hepatitis b D006509|610424||hbv resistance to included D006509|610424||hbv susceptibility to hepatitis b virus resistance to included D006509|610424||hepatitis b virus susceptibility to C538139|222900||sucrase isomaltase deficiency congenital C538139|222900||congenital sucrase isomaltase deficiency C538139|222900||congenital sucrose intolerance C538139|222900||congenital sucrose isomaltase malabsorption C538139|222900||congenital sucrose isomaltose malabsorption C538139|222900||csid C538139|222900||disaccharide intolerance 1 C538139|222900||disaccharide intolerance i C538139|222900||si deficiency C538139|222900||sucrase isomaltase deficiency C538139|222900||sucrose intolerance congenital C538139|222900||sucrose isomaltase malabsorption congenital C538139|222900||sucrose isomaltose malabsorption congenital C567299||hepatoblastoma caused by somatic mutation C567298||craniofaciofrontodigital syndrome C567298||cantu craniofaciofrontodigital syndrome D014402||tuberous sclerosis D014402||adenoma sebaceum D014402||bourneville disease D014402||bourneville phacomatosis D014402||bourneville phakomatosis D014402||bourneville pringle disease D014402||bourneville pringle apos s disease D014402||bourneville pringles disease D014402||bourneville apos s disease D014402||bourneville apos s syndrome D014402||bourneville syndrome D014402||cerebral scleroses D014402||cerebral sclerosis D014402||disease bourneville pringle D014402||disease bourneville pringle apos s D014402||epiloia D014402||phacomatosis bourneville D014402||phakomatosis bourneville D014402||sclerosis cerebral D014402||sclerosis tuberosa D014402||sclerosis tuberose D014402||sclerosis tuberous D014402||syndrome bourneville D014402||syndrome bourneville apos s D014402|C565346|191100||tuberose sclerosis D014402|C565346|191100||tuberous sclerosis complex D014401||tuberculosis urogenital D014401||tuberculoses urogenital D014401||urogenital tuberculoses D014401||urogenital tuberculosis D014400||tuberculosis splenic D014400||splenic tuberculoses D014400||splenic tuberculosis D014400||tuberculoses splenic C538236|201810||adrenal hyperplasia 2 C538236|201810||3 alpha beta hsd deficiency C538236|201810||3 alpha beta hydroxysteroid dehydrogenase deficiency C538236|201810||3 alpha beta hydroxysteroid dehydrogenase type 2 deficiency of C538236|201810||3 beta hydroxysteroid dehydrogenase type ii deficiency of C538236|201810||adrenal hyperplasia ii C538236|201810||hsdb C538236|201810||hsdb3 C537400||pilotto syndrome C537400||cleft lip and palate congenital heart disease scoliosis short stature and mental retardation C537401||pineal teratoma C537401||teratoma pineal D003769||dental occlusion traumatic D003769||dental occlusions traumatic D003769||occlusion dental traumatic D003769||occlusions traumatic dental D003769||occlusion traumatic dental D003769||traumatic dental occlusion D003769||traumatic dental occlusions C565969|202700||neutropenia severe congenital autosomal dominant 1 C565969|202700||neutropenia severe congenital 1 autosomal dominant C565969|202700||scn1 D003763||dental leakage D003763||dental leakages D003763||leakage dental D003763||leakages dental 215600|C566123|C565846||cirrhosis familial 215600|C566123|C565846||cirrhosis cryptogenic included 215600|C566123|C565846||cirrhosis familial with pulmonary hypertension included 215600|C566123|C565846||cirrhosis noncryptogenic susceptibility to included 215600|C566123|C565846||copper overload cirrhosis included 215600|C566123|C565846||copper toxicosis idiopathic included 215600|C566123|C565846||endemic tyrolean infantile cirrhosis included 215600|C566123|C565846||etic included 215600|C566123|C565846||icc included 215600|C566123|C565846||ict included 215600|C566123|C565846||indian childhood cirrhosis included 215600|C566123|C565846||sen syndrome included 215600|C566123|C565846||copper toxicosis idiopathic C537451|300148||mehmo syndrome C537451|300148||mehmo C537451|300148||mental retardation epileptic seizures hypogonadism and hypogenitalism microcephaly and obesity C537451|300148||mental retardation x linked syndromic 20 C537451|300148||mental retardation x linked syndromic 25 C537451|300148||mrxs20 C537451|300148||mrxs25 C537451|300148||x linked mehmo syndrome D005168|227500||factor vii deficiency D005168|227500||deficiencies factor vii D005168|227500||deficiency factor vii D005168|227500||f7 deficiency D005168|227500||factor vii deficiencies D005168|227500||hypoproconvertinemia D005168|227500||hypoproconvertinemias D001102||arbovirus infections D001102||arbovirus infection D001102||infection arbovirus D001102||infections arbovirus D001100||arachnoiditis D001100||arachnoiditides D001100||arachnoid membrane inflammation D001100||arachnoid membrane inflammations D001100||inflammation arachnoid membrane D001100||inflammations arachnoid membrane C538240|104530||amelogenesis imperfecta local hypoplastic form C538240|104530||amelogenesis imperfecta hypoplastic type C538240|104530||hypoplastic type amelogenesis imperfecta C538240|104530||local hypoplastic type of amelogenesis imperfecta C538240|104530||microdontia generalized C538240|104530||microdontia generalized included D002430||cecal neoplasms D002430||cancer cecal D002430||cancer of cecum D002430||cancer of the cecum D002430||cecal cancer D002430||cecal neoplasm D002430||neoplasm cecal D002430||neoplasms cecal C562815|222748||dihydropyrimidinase deficiency C562815|222748||dph deficiency C562815|222748||dpys deficiency C536171|222730||dicarboxylicaminoaciduria C536171|222730||dicarboxylic aminoaciduria C536171|222730||dicarboxylic amino aciduria C536171|222730||dicarboxylicamino aciduria C536171|222730||glutamate and aspartate transport defect C536171|222730||glutamate aspartate transport defect C536171|222730||inborn error of glutamic and aspartate transport D015746||abdominal pain D015746||abdominal pains D015746||pain abdominal D015746||pains abdominal D015745||granuloma foreign body D015745||foreign body granuloma D015745||foreign body granulomas D015745||granulomas foreign body C566441|610125||microphthalmia syndromic 5 C566441|610125||mcops5 C566441|610125||retinal dystrophy early onset and pituitary dysfunction included D014412||tumor virus infections D014412||fibroma shope D014412||infections tumor virus D014412||infection tumor virus D014412||papilloma shope D014412||shope fibroma D014412||shope papilloma D014412||tumor virus infection C536573|112310||boomerang dysplasia C536573|112310||boomerang like skeletal dysplasia C536573|112310||dwarfism with short bowed rigid limbs and characteristic facies C536573|112310||piepkorn dysplasia C537411||burn mckeown syndrome C537411||bilateral choanal atresia cardiac defects deafness and dysmorphic appearance C567268||niemann pick disease intermediate protracted neurovisceral C537412||burnett schwartz berberian syndrome C537412||atrophodermia reticulata C537412||atrophodermia reticulata symmetrica faciei C537412||atrophodermia vermiculata C537412||folliculitis ulerythematosa C537412||folliculitis ulerythematosa reticulata C537412||honeycomb atrophy C537412||keratosis pilaris C537412||keratosis pilaris atrophicans facies C537412||ulerythema ophryogenes C537412||ulerythema ophryogenesis C537412||ulerythema ophryogenes with multiple congenital anomalies C567267||niemann pick disease intermediate with visceral involvement and rapid progression C563110|300004||proud syndrome C563110|300004||acc with abnormal genitalia C563110|300004||corpus callosum agenesis of with abnormal genitalia D003731||dental caries D003731||caries dental D003731||carious dentin D003731||carious dentins D003731||decay dental D003731||dental decay D003731||dental white spot D003731||dental white spots D003731||dentin carious D003731||dentins carious D003731||spots white D003731||spot white D003731||white spot D003731||white spot dental D003731||white spots D003731||white spots dental D015715||corneal edema D015715||corneal edemas D015715||edema corneal D015715||edemas corneal C567886|278720||xeroderma pigmentosum complementation group c C567886|278720||xeroderma pigmentosum iii C567886|278720||xp3 C567886|278720||xpc C567886|278720||xpcc C567886|278720||xp group c C580233||lactate dehydrogenase deficiency C580233||deficiency of lactate dehydrogenase C580233||lactate dehydrogenase subunit deficiencies C580233||ldh deficiency C566947|156200||mental retardation autosomal dominant 1 C566947|156200||chromosome 2q23 1 deletion syndrome included C566947|156200||mrd1 C567275||craniodiaphyseal dysplasia autosomal dominant C537405||growth and mental retardation mandibulofacial dysostosis microcephaly and cleft palate C567274||deafness congenital and onychodystrophy autosomal dominant C567581|300807||thrombophilia x linked due to factor ix defect C567581|300807||deep venous thrombosis protection against included C567581|300807||thph8 C537402||pinheiro freire maia miranda syndrome C537402||trichodermodysplasia with dental alterations C567276||coumarin sensitivity C537408||brunoni syndrome C537408||mesomelia radial hypoplasia bifid thumb unusual facies C537408||mesomelic dwarfism skeletal abnormalities and ectodermal dysplasia C567272||epidermolysis bullosa dystrophica with subcorneal cleavage D002418||cattle diseases D002418||bovine disease D002418||bovine diseases D002418||cattle disease D002418||disease bovine D002418||disease cattle D002418||diseases bovine D002418||diseases cattle C537422||apparent mineralocorticoid excess C537422||cortisol 11 beta ketoreductase deficiency D003744||dental enamel hypoplasia D003744||ageneses enamel D003744||agenesis enamel D003744||enamel ageneses D003744||enamel agenesis D003744||enamel hypoplasia D003744||enamel hypoplasia dental D003744||enamel hypoplasias D003744||enamel hypoplastic D003744||hypomineralization molar incisor D003744||hypoplasia dental enamel D003744||hypoplasia enamel D003744||hypoplasias enamel D003744||hypoplastic enamel D003744||molar incisor hypomineralization C567278||holoprosencephaly 10 D003741||dental deposits D003741||dental deposit D003741||deposit dental D003741||deposits dental D003741||materia alba C563242|261000||intrinsic factor deficiency C563242|261000||ifd C563242|261000||pernicious anemia congenital due to defect of intrinsic factor 153100|D008209||lymphedema 153100|D008209||congenital familial lymphedema 153100|D008209||congenital hereditary lymphedema 153100|D008209||congenital hereditary lymphedemas 153100|D008209||congenital lymphedema primary 153100|D008209||congenital lymphedemas primary 153100|D008209||early onset lymphedema 153100|D008209||early onset lymphedemas 153100|D008209||hereditary lymphedema 153100|D008209||hereditary lymphedema 1 153100|D008209||hereditary lymphedema 1s 153100|D008209||hereditary lymphedema congenital 153100|D008209||hereditary lymphedemas 153100|D008209||hereditary lymphedemas congenital 153100|D008209||hereditary lymphedema type i 153100|D008209||lmph1a 153100|D008209||lymphedema congenital hereditary 153100|D008209||lymphedema early onset 153100|D008209||lymphedema hereditary 153100|D008209||lymphedema hereditary ia 153100|D008209||lymphedema nonne milroy 153100|D008209||lymphedema primary congenital 153100|D008209||lymphedemas 153100|D008209||lymphedemas congenital hereditary 153100|D008209||lymphedemas early onset 153100|D008209||lymphedemas hereditary 153100|D008209||lymphedemas primary congenital 153100|D008209||milroy disease 153100|D008209||milroy apos s disease 153100|D008209||milroys disease 153100|D008209||nonne milroy disease 153100|D008209||nonne milroy lymphedema 153100|D008209||nonne milroy meige disease 153100|D008209||pcl 153100|D008209||primary congenital lymphedema 153100|D008209||primary congenital lymphedemas D050010||hyperthyroxinemia familial dysalbuminemic D050010||dysalbuminemic hyperthyroxinemia familial D050010||familial dysalbuminemic hyperthyroxinemia C537413||burning mouth syndrome type 3 C537413||type 3 burning mouth syndrome C580241|150250|C537873||larsen syndrome C536520|314390||vacterl association with hydrocephaly x linked C536520|314390||vacterl association with hydrocephalus x linked C536520|314390||vacterl association x linked with or without hydrocephalus C536520|314390||vacterl h x linked C536520|314390||vacterlx C536520|314390||x linked vacterl h syndrome D011218|176270||prader willi syndrome D011218|176270||labhart willi prader fanconi syndrome D011218|176270||labhart willi syndrome D011218|176270||prader labhart willi syndrome D011218|176270||prader labhart willi syndrome prader willi syndrome chromosome region included D011218|176270||prader willi like syndrome associated with chromosome 6 included D011218|176270||pwcr included D011218|176270||pws D011218|176270||royer apos s syndrome D011218|176270||royers syndrome D011218|176270||royer syndrome D011218|176270||syndrome labhart willi D011218|176270||syndrome labhart willi prader fanconi D011218|176270||syndrome prader labhart willi D011218|176270||syndrome prader willi D011218|176270||syndrome royer D011218|176270||syndrome royer apos s D011218|176270||syndrome willi prader D011218|176270||willi prader syndrome C537417||butyrylcholinesterase deficiency C537417||acylcholine acylhydrolase deficiency C537417||apnea postanesthetic C537417||cholinesterase 2 deficiency C537417||pseudocholinesterase deficiency C537417||pseudocholinesterase e1 deficiency C537417||succinylcholine sensitivity C537417||suxamethonium sensitivity D051346||mobility limitation D051346||ambulation difficulty D051346||ambulatory difficulty D051346||difficulty ambulation D051346||difficulty walking D051346||limitation mobility D051346||mobility limitations C537418|211750||opitz trigonocephaly syndrome C537418|211750||trigonocephaly syndrome D003715||dengue D003715||classical dengue D003715||classical dengue fever D003715||classical dengue fevers D003715||classical dengues D003715||dengue classical D003715||dengue fever D003715||dengue fever classical D003715||dengue fevers classical D003715||dengues classical D003715||fever dengue C567249||retinitis pigmentosa 46 C567249||retinitis pigmentosa autosomal recessive idh3b related C562593|278780||xeroderma pigmentosum complementation group g C562593|278780||cerebrooculofacioskeletal syndrome 3 included C562593|278780||cofs3 included C562593|278780||xeroderma pigmentosum vii C562593|278780||xeroderma pigmentosum vii xp7 xeroderma pigmentosum type g cockayne syndrome included C562593|278780||xpg C562593|278780||xpgc C562593|278780||xpg cs included C562593|278780||xp group g D020295||brain stem neoplasms D020295||brainstem neoplasm D020295||brain stem neoplasm D020295||brainstem neoplasm primary D020295||brainstem neoplasms D020295||brainstem neoplasms primary D020295||brain stem neoplasms primary D020295||brainstem tumor D020295||brain stem tumor D020295||brainstem tumors D020295||brain stem tumors D020295||medullary neoplasm D020295||medullary neoplasms D020295||medullary tumor D020295||medullary tumors D020295||mesencephalic neoplasm D020295||mesencephalic neoplasms D020295||midbrain neoplasm D020295||midbrain neoplasms D020295||midbrain tumor D020295||midbrain tumors D020295||neoplasm brainstem D020295||neoplasm brain stem D020295||neoplasm medullary D020295||neoplasm mesencephalic D020295||neoplasm midbrain D020295||neoplasm pontine D020295||neoplasm primary brainstem D020295||neoplasms brainstem D020295||neoplasms brain stem D020295||neoplasms brainstem primary D020295||neoplasms medullary D020295||neoplasms mesencephalic D020295||neoplasms midbrain D020295||neoplasms pontine D020295||neoplasms primary brainstem D020295||pontine neoplasm D020295||pontine neoplasms D020295||pontine tumor D020295||pontine tumors D020295||primary brainstem neoplasm D020295||primary brainstem neoplasms D020295||primary brain stem neoplasms D020295||tumor brain stem D020295||tumor medullary D020295||tumor midbrain D020295||tumor pontine D020295||tumors medullary D020295||tumors midbrain D020295||tumors pontine 153880|D008269||macular edema 153880|D008269||central retinal edema cystoid 153880|D008269||cymd 153880|D008269||cystoid macular dystrophy 153880|D008269||cystoid macular edema 153880|D008269||cystoid macular edema postoperative 153880|D008269||dcmd 153880|D008269||edema cystoid macular 153880|D008269||edema macular 153880|D008269||irvine gass syndrome 153880|D008269||macular dystrophy dominant cystoid 153880|D008269||macular edema cystoid 153880|D008269||mddc 153880|D008269||syndrome irvine gass D020294||myasthenic syndromes congenital D020294||congenital myasthenia D020294||congenital myasthenia gravis D020294||congenital myasthenic syndrome D020294||congenital myasthenic syndromes D020294||congenital myasthenic syndromes postsynaptic D020294||congenital myasthenic syndromes presynaptic D020294||congenital slow channel myasthenic syndromes D020294||gravi congenital myasthenia D020294||myasthenia gravis congenital D020294||myasthenic syndrome congenital D020294||myasthenic syndromes congenital slow channel D020294||postsynaptic congenital myasthenic syndromes D020294||presynaptic congenital myasthenic syndromes D020294||slow channel congenital myasthenic syndromes D020294||syndrome congenital myasthenic D020294||syndromes congenital myasthenic D003711||demyelinating diseases D003711||clinically isolated cns demyelinating syndrome D003711||clinically isolated syndrome cns demyelinating D003711||demyelinating disease D003711||demyelinating disorder D003711||demyelinating disorders D003711||demyelination D003711||demyelinations D020293||vasculitis central nervous system D020293||angiitis central nervous system D020293||angiitis cerebral D020293||angiitis granulomatous D020293||arteritis granulomatous D020293||arteritis postzoster D020293||central nervous system angiitis D020293||central nervous system vasculitis D020293||cerebral angiitis D020293||cerebral vasculitis D020293||cns vasculitis D020293||cns vasculitis primary D020293||cns vasculitis secondary D020293||granulomatous angiitis D020293||granulomatous arteritis D020293||postzoster arteritis D020293||primary central nervous system vasculitis D020293||primary cns vasculitis D020293||secondary cns vasculitis D020293||vasculitis cerebral D020293||vasculitis cns D020293||vasculitis cns secondary D020293||vasculitis primary cns D020293||vasculitis secondary cns 310440|C564093||myopathy x linked with excessive autophagy 310440|C564093||meax 310440|C564093||xmea 605285|C535813||neuropathy hereditary motor and sensory russe type 605285|C535813||charcot marie tooth disease autosomal recessive type 4g 605285|C535813||charcot marie tooth disease type 4g 605285|C535813||charcot marie tooth neuropathy type 4g 605285|C535813||cmt4g 605285|C535813||hereditary motor and sensory neuropathy russe type 605285|C535813||hmsnr C566695|181400||scapuloperoneal syndrome neurogenic kaeser type C566695|181400||kaeser syndrome C566695|181400||scapuloperoneal syndrome neurogenic type of kaeser C566695|181400||scpnk C566695|181400||stark kaeser syndrome D020299||intracranial hemorrhage hypertensive D020299||cerebral hemorrhage hypertensive D020299||cerebral hemorrhages hypertensive D020299||cerebral hypertensive hemorrhage D020299||cerebral hypertensive hemorrhages D020299||hemorrhage cerebral hypertensive D020299||hemorrhage hypertensive cerebral D020299||hemorrhage hypertensive intracerebral D020299||hemorrhage hypertensive intracranial D020299||hemorrhage intracranial hypertensive D020299||hemorrhages cerebral hypertensive D020299||hemorrhages hypertensive cerebral D020299||hemorrhages hypertensive intracerebral D020299||hemorrhages hypertensive intracranial D020299||hemorrhages intracranial hypertensive D020299||hypertensive cerebral hemorrhage D020299||hypertensive cerebral hemorrhages D020299||hypertensive hemorrhage cerebral D020299||hypertensive hemorrhage intracranial D020299||hypertensive hemorrhages cerebral D020299||hypertensive hemorrhages intracranial D020299||hypertensive intracerebral hemorrhage D020299||hypertensive intracerebral hemorrhages D020299||hypertensive intracranial hemorrhage D020299||hypertensive intracranial hemorrhages D020299||intracerebral hemorrhage hypertensive D020299||intracerebral hemorrhages hypertensive D020299||intracranial hemorrhages hypertensive D020299||intracranial hypertensive hemorrhage D020299||intracranial hypertensive hemorrhages C565302|605727||otosclerosis 2 C565302|605727||otsc2 C537204|609307||spinocerebellar ataxia 27 C537204|609307||cerebellar ataxia autosomal dominant fgf14 related C537204|609307||sca27 C580212||agenesis of cerebellar vermis C580212||cerebello oculo renal syndrome C580212||familial aplasia of the vermis C580212||joubert bolthauser syndrome C536527|607636||van buchem disease type 2 C536527|607636||osteosclerosis of the skull and enlarged mandible C536527|607636||vbch2 D003719||dens in dente D003719||dens in dentes D003719||dente dens in D003719||dentes dens in D003719||in dente dens D003719||in dentes dens D003728||dental calculus D003728||calculus dental D003728||tartar C537855|608345||nystagmus 3 congenital autosomal dominant C537855|608345||nys3 C567258||hypoadiponectinemia C567258||adiponectin deficiency C537205|610246||spinocerebellar ataxia 28 C537205|610246||sca28 C562707|201400||acth deficiency isolated C562707|201400||iad D015701||near drowning D015701||drowning near D015701||drownings near D015701||near drownings C580224||keratitis ichthyosis deafness syndrome C580224||keratitis ichthyosis and deafness C566968|611307||muscular dystrophy limb girdle type 2l C566968|611307||lgmd2l C567264||retinitis pigmentosa 7 with bull apos s eye maculopathy D050033|218700|C566852||thyroid dysgenesis D050033||agenesis thyroid D050033||dysgenesis thyroid D050033||ectopic thyroid D050033||ectopic thyroids D050033||hypoplasia thyroid D050033|218700|C566852||thyroid agenesis D050033|218700|C566852||thyroid ectopic D050033|218700|C566852||thyroid hypoplasia D050033||thyroids ectopic C567263||retinitis pigmentosa 7 digenic D050032||postpartum thyroiditis D050032||post partum thyroiditides D050032||postpartum thyroiditides D050032||post partum thyroiditis D050032||thyroiditides postpartum D050032||thyroiditides post partum D050032||thyroiditis postpartum D050032||thyroiditis post partum D020288|260500||papilloma choroid plexus D020288|260500||choroid plexus papilloma D020288|260500||choroid plexus papilloma choroid plexus carcinoma included D020288|260500||choroid plexus papillomas D020288|260500||cpc included D020288|260500||cpp D020288|260500||papilloma of choroid plexus D020288|260500||papillomas choroid plexus C567266||deafness autosomal dominant due to mutation in myo1a D050035||sexual infantilism D050035||genital infantilism D050035||infantilism genital D050035||infantilism sexual C537784|132900||aortic aneurysm familial thoracic 4 C537784|132900||aat4 C537784|132900||aortic aneurysm aortic dissection and patent ductus arteriosus C537784|132900||faa4 609041|C563807||spastic paraplegia 27 autosomal recessive 609041|C563807||spg27 D020274||autoimmune diseases of the nervous system D020274||autoimmune disease neurologic D020274||autoimmune diseases nervous system D020274||autoimmune diseases neurologic D020274||autoimmune disorders nervous system D020274||autoimmune disorders of the nervous system D020274||autoimmune nervous system diseases D020274||disease neurologic autoimmune D020274||diseases neurologic autoimmune D020274||immune diseases nervous system D020274||immune disorders nervous system D020274||nervous system autoimmune diseases D020274||nervous system immune diseases D020274||nervous system immune disorders D020274||neurologic autoimmune disease D020274||neurologic autoimmune diseases C567277|601544||deafness autosomal dominant 3a C567277|601544||dfna3a D019283||pancreatitis acute necrotizing D019283||acute necrotizing pancreatitis D019283||necrotizing pancreatitis acute C567224||chromosome 22q11 2 microduplication syndrome C567224||22q11 2 duplication C567224||chromosome 22q11 2 duplication syndrome D020271||heredodegenerative disorders nervous system D020271||degenerative disease nervous system hereditary D020271||degenerative hereditary diseases nervous system D020271||degenerative hereditary disorders nervous system D020271||disease hereditary neurodegenerative D020271||disease neurodegenerative hereditary D020271||diseases hereditary neurodegenerative D020271||diseases neurodegenerative hereditary D020271||hereditary degenerative disorders nervous system D020271||hereditary disease neurodegenerative D020271||hereditary diseases neurodegenerative D020271||hereditary neurodegenerative disease D020271||hereditary neurodegenerative diseases D020271||nervous system degenerative hereditary diseases D020271||nervous system diseases degenerative hereditary D020271||nervous system hereditary degenerative diseases D020271||neurodegenerative disease hereditary D020271||neurodegenerative diseases hereditary D020271||neurodegenerative hereditary disease D020271||neurodegenerative hereditary diseases D019282||wasting syndrome D019282||wasting disease D019282||wasting diseases D019282||wasting syndromes D052537|607616||niemann pick disease type b D052537|607616||niemann pick disease adult non neuronopathic D052537|607616||niemann pick disease intermediate with visceral involvement and rapid progression included D052537|607616||niemann pick disease non neuronopathic type D052537|607616||niemann pick disease type e D052537|607616||niemann pick disease type e included D052537|607616||niemann pick disease type f included D052537|607616||niemann pick disease visceral D052537|607616||niemann pick apos s disease type b D052537|607616||niemann pick apos s disease type e D052537|607616||type b niemann pick disease D020270||alcohol withdrawal seizures D020270||alcoholic seizure D020270||alcoholic seizures D020270||alcohol withdrawal induced major motor seizure D020270||alcohol withdrawal induced seizure D020270||alcohol withdrawal induced seizures D020270||alcohol withdrawal induced status epilepticus D020270||alcohol withdrawal seizure D020270||major motor seizure alcohol withdrawal induced D020270||seizure alcoholic D020270||seizure alcohol withdrawal D020270||seizure alcohol withdrawal induced D020270||seizures alcoholic D020270||seizures alcohol withdrawal D020270||seizures alcohol withdrawal induced D020270||status epilepticus alcohol withdrawal induced D020270||withdrawal induced seizure alcohol D020270||withdrawal induced seizures alcohol D020270||withdrawal seizure alcohol D020270||withdrawal seizures alcohol C565705|610199||diabetes mellitus neonatal with congenital hypothyroidism C565705|610199||ndh syndrome C563984|108770||atrial standstill C563984|108770||atrial cardiomyopathy with heart block C563984|108770||atrial standstill 1 C563984|108770||atrst1 C563984|108770||cardiomyopathy familial with conduction disturbance C537480|254130||miyoshi myopathy C537480|254130||miyoshi distal myopathy C537480|254130||miyoshi muscular dystrophy 1 C537480|254130||mmd1 C537480|254130||muscular dystrophy distal late onset autosomal recessive D020279||hereditary central nervous system demyelinating diseases D020279||central nervous system demyelinating diseases hereditary D020279||central nervous system demyelinating hereditary diseases D020279||central nervous system hereditary demyelinating diseases D020279||demyelinating central nervous system diseases hereditary D020279||demyelinating diseases central nervous system hereditary D020279||hereditary demyelinating diseases central nervous system D020278||demyelinating autoimmune diseases cns D020278||autoimmune demyelinating diseases central nervous system D020278||autoimmune demyelinating diseases cerebral D020278||autoimmune demyelinating diseases cns D020278||autoimmune demyelinating diseases spinal cord D020278||autoimmune demyelinating disorders cns D020278||autoimmune diseases demyelinating brain D020278||brain autoimmune demyelinating diseases D020278||cerebral demyelinating diseases autoimmune D020278||cns autoimmune demyelinating disorders D020278||cns demyelinating autoimmune diseases D020278||demyelinating autoimmune diseases brain D020278||demyelinating autoimmune diseases central nervous system D020278||demyelinating autoimmune diseases cerebral D020278||demyelinating autoimmune diseases spinal cord D020278||demyelinating autoimmune disorders cns D020278||demyelinating disease autoimmune cns D020278||spinal cord demyelinating autoimmune diseases D020277||polyradiculoneuropathy chronic inflammatory demyelinating D020277||chronic inflammatory demyelinating polyradiculoneuropathy D020277||chronic inflammatory polyradiculoneuropathies D020277||chronic inflammatory polyradiculoneuropathy D020277||chronic inflammatory polyradiculopathies D020277||chronic inflammatory polyradiculopathy D020277||cidp D020277||inflammatory polyradiculopathies chronic D020277||inflammatory polyradiculopathy chronic D020277||polyneuropathy inflammatory demyelinating chronic D020277||polyradiculoneuropathies chronic inflammatory D020277||polyradiculoneuropathy chronic inflammatory D020277||polyradiculopathies chronic inflammatory D020277||polyradiculopathy chronic inflammatory 256370||nephrotic syndrome type 4 256370||nphs4 C563923|608471||corneal dystrophy lattice type iiia C563923|608471||cdl3a C563923|608471||lattice corneal dystrophy type iiia D015470|601626||leukemia myeloid acute D015470|601626||acute myeloblastic leukemia D015470|601626||acute myeloblastic leukemias D015470|601626||acute myelocytic leukemia D015470|601626||acute myelocytic leukemias D015470|601626||acute myelogenous leukemia D015470|601626||acute myelogenous leukemias D015470|601626||acute myeloid leukemia D015470|601626||acute myeloid leukemias D015470|601626||acute myeloid leukemia with maturation D015470|601626||acute myeloid leukemia without maturation D015470|601626||acute nonlymphoblastic leukemia D015470|601626||acute nonlymphoblastic leukemias D015470|601626||acute nonlymphocytic leukemia D015470|601626||acute nonlymphocytic leukemias D015470|601626||aml D015470|601626||anll D015470|601626||leukemia acute myeloblastic D015470|601626||leukemia acute myelocytic D015470|601626||leukemia acute myelogenous D015470|601626||leukemia acute myelogenous leukemia acute myeloid susceptibility to included D015470|601626||leukemia acute myeloid D015470|601626||leukemia acute nonlymphoblastic D015470|601626||leukemia acute nonlymphocytic D015470|601626||leukemia myeloblastic acute D015470|601626||leukemia myelocytic acute D015470|601626||leukemia myelogenous acute D015470|601626||leukemia myeloid acute m1 D015470|601626||leukemia myeloid acute m2 D015470|601626||leukemia nonlymphoblastic acute D015470|601626||leukemia nonlymphocytic acute D015470|601626||leukemias acute myeloblastic D015470|601626||leukemias acute myelocytic D015470|601626||leukemias acute myelogenous D015470|601626||leukemias acute myeloid D015470|601626||leukemias acute nonlymphoblastic D015470|601626||leukemias acute nonlymphocytic D015470|601626||myeloblastic leukemia acute D015470|601626||myeloblastic leukemias acute D015470|601626||myelocytic leukemia acute D015470|601626||myelocytic leukemias acute D015470|601626||myelogenous leukemia acute D015470|601626||myelogenous leukemias acute D015470|601626||myeloid leukemia acute D015470|601626||myeloid leukemia acute m1 D015470|601626||myeloid leukemia acute m2 D015470|601626||myeloid leukemias acute D015470|601626||nonlymphoblastic leukemia acute D015470|601626||nonlymphoblastic leukemias acute D015470|601626||nonlymphocytic leukemia acute D015470|601626||nonlymphocytic leukemias acute 312612|C564065||retinitis pigmentosa 6 312612|C564065||retinitis pigmentosa x linked recessive 6 312612|C564065||rp6 C567232||chromosome 15q26 qter deletion syndrome C567232||drayer syndrome D052517|272200||multiple sulfatase deficiency disease D052517|272200||juvenile sulfatidoses D052517|272200||juvenile sulfatidosis D052517|272200||msd D052517|272200||mucosulfatidosis D052517|272200||multiple sulfatase deficiencies D052517|272200||multiple sulfatase deficiency D052517|272200||multiple sulphatase deficiency disease D052517|272200||sulfatidoses juvenile D052517|272200||sulfatidosis juvenile D052517|272200||sulfatidosis juvenile austin type D020265||lead poisoning nervous system adult D020265||adult neurologic saturnism D020265||lead induced nervous system diseases adult D020265||lead induced polyneuropathies D020265||lead induced polyneuropathy D020265||lead poisoning neurologic adult D020265||lead polyneuropathy D020265||nervous system diseases lead induced adult D020265||nervous system poisoning lead adult D020265||nervous system toxicity lead adult D020265||neurologic saturnism adult D020265||neurotoxicity syndrome lead adult D020265||plumbism neurologic adult D020265||poisoning lead nervous system adult D020265||poisoning lead neurologic adult D020265||polyneuropathies lead induced D020265||polyneuropathy lead D020265||polyneuropathy lead induced D020265||saturnism adult neurologic D003704||dementia D003704||amentia D003704||amentias D003704||dementia familial D003704||dementias D003704||dementias familial D003704||dementias senile paranoid D003704||familial dementia D003704||familial dementias D003704||paranoid dementia senile D003704||paranoid dementias senile D003704||senile paranoid dementia D003704||senile paranoid dementias C567239||chromosome 6pter p24 deletion syndrome D020264||lead poisoning nervous system childhood D020264||childhood lead encephalopathy D020264||childhood neurologic saturnism D020264||childhood saturine encephalopathy D020264||encephalopathy childhood lead D020264||encephalopathy childhood saturine D020264||lead encephalopathy childhood D020264||lead induced nervous system disease childhood D020264||lead poisoning neurologic childhood D020264||nervous system disease lead induced childhood D020264||nervous system poisoning lead childhood D020264||neurologic saturnism childhood D020264||neurotoxicity syndrome lead childhood D020264||plumbism neurologic childhood D020264||poisoning lead nervous system childhood D020264||poisoning lead neurologic childhood D020264||saturine encephalopathy childhood D020264||saturnism childhood neurologic D020263||lead poisoning nervous system D020263||lead induced nervous system diseases D020263||lead neurotoxicity syndrome D020263||lead neurotoxicity syndromes D020263||lead poisoning neurologic D020263||nervous system diseases lead induced D020263||nervous system plumbism D020263||nervous system poisoning lead D020263||neurologic lead poisoning D020263||neurologic plumbism D020263||neurotoxicity syndrome lead D020263||neurotoxicity syndromes lead D020263||plumbism nervous system D020263||plumbism neurologic D020263||poisoning lead nervous system D020263||poisoning lead neurologic D020263||syndrome lead neurotoxicity D020263||syndromes lead neurotoxicity D020262||mercury poisoning nervous system D020262||encephalopathy mercury D020262||inorganic mercury poisoning D020262||mad hatter disease D020262||mad hatter diseases D020262||mad hatter apos s disease D020262||mad hatters disease D020262||mercurialism nervous system D020262||mercurialism neurologic D020262||mercurial neuroanesthenia D020262||mercurial psychosis D020262||mercury encephalopathy D020262||mercury induced nervous system diseases D020262||mercury neurotoxicity syndrome D020262||mercury neurotoxicity syndromes D020262||mercury poisoning inorganic D020262||mercury poisoning neurologic D020262||mercury poisoning organic D020262||mercury psychosis D020262||minamata disease D020262||nervous system diseases mercury induced D020262||nervous system mercurialism D020262||nervous system poisoning mercury D020262||neuroanesthenia mercurial D020262||neurologic mercurialism D020262||neurologic mercury poisoning D020262||neurotoxicity syndrome mercury D020262||neurotoxicity syndromes mercury D020262||organic mercury poisoning D020262||poisoning inorganic mercury D020262||poisoning mercury nervous system D020262||poisoning mercury neurologic D020262||poisoning neurologic mercury D020262||poisoning organic mercury D020262||psychosis mercurial D020262||psychosis mercury D020262||syndrome mercury neurotoxicity D020262||syndromes mercury neurotoxicity D020262||system mercurialism nervous D020261||arsenic poisoning D020261||arsenical neurotoxicity syndrome D020261||arsenical neurotoxicity syndromes D020261||arsenic encephalopathies D020261||arsenic encephalopathy D020261||arsenic induced polyneuropathies D020261||arsenic induced polyneuropathy D020261||arsenic poisoning inorganic D020261||arsenic poisoning nervous system D020261||arsenic poisoning organic D020261||arsenic poisonings D020261||arsenic poisonings inorganic D020261||arsenic poisonings organic D020261||encephalopathies arsenic D020261||encephalopathy arsenic D020261||inorganic arsenic poisoning D020261||inorganic arsenic poisonings D020261||nervous system organic arsenic poisoning D020261||nervous system poisoning arsenic D020261||neurotoxicity syndrome arsenical D020261||neurotoxicity syndromes arsenical D020261||organic arsenic poisoning D020261||organic arsenic poisoning nervous system D020261||organic arsenic poisonings D020261||poisoning arsenic D020261||poisoning arsenic nervous system D020261||poisoning inorganic arsenic D020261||poisoning organic arsenic D020261||poisonings arsenic D020261||poisonings inorganic arsenic D020261||poisonings organic arsenic D020261||polyneuropathy arsenic induced D020261||syndrome arsenical neurotoxicity D020261||syndromes arsenical neurotoxicity D020260||heavy metal poisoning nervous system D020260||poisoning heavy metals nervous system C563673|610370||diarrhea 4 malabsorptive congenital C563673|610370||diar4 C563673|610370||enteric anendocrinosis D049068||plagiocephaly nonsynostotic D049068||deformational plagiocephalies D049068||deformational plagiocephaly D049068||nonsynostotic plagiocephaly D049068||plagiocephalies deformational D049068||plagiocephalies positional D049068||plagiocephaly deformational D049068||plagiocephaly positional D049068||positional plagiocephalies D049068||positional plagiocephaly D019292||skull base neoplasms D019292||neoplasm skull base D019292||neoplasms skull base D019292||skull base neoplasm C535761|256300||nephrosis congenital C535761|256300||cnf C535761|256300||congenital nephrotic syndrome 1 C535761|256300||congenital nephrotic syndrome finnish type C535761|256300||finnish congenital nephrosis C535761|256300||nephrosis 1 congenital finnish type C535761|256300||nephrotic syndrome congenital C535761|256300||nephrotic syndrome idiopathic C535761|256300||nephrotic syndrome type 1 C535761|256300||nphs1 D062025||organophosphate poisoning D062025||organophosphate poisonings D062025||organophosphorus poisoning D062025||organothiophosphate poisoning D062025||organothiophosphate poisonings D062025||organothiophosphonate poisoning D062025||organothiophosphonate poisonings D062025||poisoning organophosphate D062025||poisoning organothiophosphate D062025||poisoning organothiophosphonate D062025||poisonings organophosphate D062025||poisonings organothiophosphate D062025||poisonings organothiophosphonate D016112|146700||ichthyosis vulgaris D016112|146700||dominant ichthyosis vulgaris D016112|146700||ichthyosis simplex D016112|146700||ichthyosis simplices D016112|146700||ichthyosis vulgaris dominant D062026||alice in wonderland syndrome D020269||alcoholic neuropathy D020269||alcoholic axonal neuropathies D020269||alcoholic axonal neuropathy D020269||alcoholic neuropathies D020269||alcoholic polyneuritides D020269||alcoholic polyneuritis D020269||alcoholic polyneuropathies D020269||alcoholic polyneuropathy D020269||alcohol induced peripheral neuropathies D020269||alcohol induced peripheral neuropathy D020269||alcohol induced polyneuropathies D020269||alcohol induced polyneuropathy D020269||alcohol related autonomic polyneuropathies D020269||alcohol related autonomic polyneuropathy D020269||alcohol related polyneuropathies D020269||alcohol related polyneuropathy D020269||autonomic polyneuropathies alcohol related D020269||autonomic polyneuropathy alcohol related D020269||axonal neuropathies alcoholic D020269||axonal neuropathy alcoholic D020269||neuropathies alcoholic D020269||neuropathies alcoholic axonal D020269||neuropathies alcohol induced peripheral D020269||neuropathy alcoholic D020269||neuropathy alcoholic axonal D020269||neuropathy alcohol induced peripheral D020269||peripheral neuropathies alcohol induced D020269||peripheral neuropathy alcohol induced D020269||polyneuritides alcoholic D020269||polyneuritis alcoholic D020269||polyneuropathies alcoholic D020269||polyneuropathies alcohol induced D020269||polyneuropathies alcohol related D020269||polyneuropathies alcohol related autonomic D020269||polyneuropathy alcoholic D020269||polyneuropathy alcohol induced D020269||polyneuropathy alcohol related D020269||polyneuropathy alcohol related autonomic D062027||linear iga bullous dermatosis D062027||chronic bullous disease of childhood D062027||dermatoses linear iga D062027||dermatoses linear iga igg D062027||dermatosis linear iga D062027||dermatosis linear iga igg D062027||drug induced linear iga bullous dermatosis D062027||drug induced linear iga dermatosis D062027||iga dermatoses linear D062027||iga dermatosis linear D062027||iga igg dermatoses linear D062027||iga igg dermatosis linear D062027||linear iga dermatoses D062027||linear iga dermatosis D062027||linear iga igg bullous dermatosis D062027||linear iga igg dermatoses D062027||linear iga igg dermatosis D020268||alcohol induced disorders nervous system D020268||alcohol abuse nervous system D020268||ethanol induced disorders nervous system D020268||ethanol induced nervous system disorders D020268||ethyl alcohol abuse neurologic syndromes D020268||nervous system disorders ethanol induced D020267||mptp poisoning D020267||mptp induced degeneration of the striatum D020267||mptp induced parkinsonism D020267||mptp neurotoxicity syndrome D020267||mptp neurotoxicity syndromes D020267||neurotoxicity syndrome mptp D020267||neurotoxicity syndromes mptp D020267||parkinsonism mptp induced D020267||poisoning 1 methyl 4 phenyl 1 2 3 6 tetrahydropyridine D020267||poisoning mptp C563439|600808||enuresis nocturnal 2 C563439|600808||enur2 C580205||isodicentric chromosome 15 syndrome C580205||duplication inversion 15q11 C580205||idic 15 C580205||inv dup 15 C580205||inverted duplication 15 C580205||isodicentric chromosome 15 C580205||non distal tetrasomy 15q C580202||intranuclear rod myopathy C580202||intranuclear nemaline rod myopathy C580202||nemaline myopathy with exclusively intranuclear rods C538356|601224||potocki shaffer syndrome C538356|601224||chromosome 11p11 2 deletion syndrome C538356|601224||defect11 syndrome C538356|601224||deletion of chromosome 11p11 2 C538356|601224|133701||exostoses multiple type ii C538356|601224||p11pds C538356|601224||proximal 11p deletion syndrome D012512|612219||sarcoma ewing D012512|612219||askin tumor included D012512|612219||es D012512|612219||ewing sarcoma D012512|612219||ewing apos s sarcoma D012512|612219||ewings sarcoma D012512|612219||ewing apos s tumor D012512|612219||ewings tumor D012512|612219||ewing tumor D012512|612219||neuroepithelioma peripheral included D012512|612219||pne included D012512|612219||sarcoma ewings D012512|612219||sarcoma ewing apos s D012512|612219||tumor ewing D012512|612219||tumor ewing apos s 177000|D046351||protoporphyria erythropoietic 177000|D046351||deficiencies ferrochelatase 177000|D046351||deficiencies heme synthetase 177000|D046351||deficiency ferrochelatase 177000|D046351||deficiency heme synthetase 177000|D046351||epp 177000|D046351||erythrohepatic protoporphyria 177000|D046351||erythropoietic protoporphyria 177000|D046351||erythropoietic protoporphyrias 177000|D046351||ferrochelatase deficiencies 177000|D046351||ferrochelatase deficiency 177000|D046351||heme synthetase deficiencies 177000|D046351||heme synthetase deficiency 177000|D046351||protoporphyrias erythropoietic 177000|D046351||synthetase deficiencies heme 177000|D046351||synthetase deficiency heme D020254||tooth ankylosis D020254||ankyloses dental D020254||ankyloses dentoalveolar D020254||ankyloses tooth D020254||ankylosis dental D020254||ankylosis dentoalveolar D020254||ankylosis of teeth D020254||ankylosis tooth D020254||dental ankyloses D020254||dental ankylosis D020254||dentoalveolar ankyloses D020254||dentoalveolar ankylosis D020254||teeth ankyloses D020254||teeth ankylosis D020254||tooth ankyloses D020252||gastric antral vascular ectasia D020252||antral vascular ectasia D020252||antral vascular ectasias D020252||ectasia antral vascular D020252||ectasias antral vascular D020252||stomachs watermelon D020252||stomach watermelon D020252||vascular ectasia antral D020252||vascular ectasias antral D020252||watermelon stomach D020252||watermelon stomachs D020250||postoperative nausea and vomiting D020250||emeses postoperative D020250||emesis postoperative D020250||nausea and vomiting postoperative D020250||nausea postoperative D020250||ponv D020250||postoperative emeses D020250||postoperative emesis D020250||postoperative nausea D020250||postoperative vomiting D020250||vomiting postoperative D019263||dysthymic disorder D019263||disorder dysthymic D019263||dysthymic disorders D020258||neurotoxicity syndromes D020258||encephalitides toxic D020258||encephalitis toxic D020258||encephalopathies toxic D020258||encephalopathy toxic D020258||nervous system poisoning D020258||nervous system poisonings D020258||neurotoxic disorder D020258||neurotoxic disorders D020258||neurotoxicity syndrome D020258||neurotoxin disease D020258||neurotoxin diseases D020258||neurotoxin disorder D020258||neurotoxin disorders D020258||poisoning nervous system D020258||poisonings nervous system D020258||syndrome neurotoxicity D020258||syndromes neurotoxicity D020258||toxic encephalitides D020258||toxic encephalitis D020258||toxic encephalopathies D020258||toxic encephalopathy D020257||ventricular remodeling D020257||cardiac remodelings ventricular D020257||cardiac remodeling ventricular D020257||left ventricle remodeling D020257||left ventricle remodelings D020257||left ventricular remodeling D020257||left ventricular remodelings D020257||myocardial remodelings ventricular D020257||myocardial remodeling ventricular D020257||remodeling left ventricle D020257||remodeling left ventricular D020257||remodelings left ventricle D020257||remodelings left ventricular D020257||remodelings ventricle D020257||remodelings ventricular D020257||remodelings ventricular cardiac D020257||remodelings ventricular myocardial D020257||remodeling ventricle D020257||remodeling ventricular D020257||remodeling ventricular cardiac D020257||remodeling ventricular myocardial D020257||ventricle remodeling D020257||ventricle remodeling left D020257||ventricle remodelings D020257||ventricle remodelings left D020257||ventricular cardiac remodeling D020257||ventricular cardiac remodelings D020257||ventricular myocardial remodeling D020257||ventricular myocardial remodelings D020257||ventricular remodeling left D020257||ventricular remodelings D020257||ventricular remodelings left C567209||mental retardation joint hypermobility and skin laxity with or without metabolic abnormalities D020256||choroidal neovascularization D020256||choroidal neovascularizations D020256||choroid neovascularization D020256||choroid neovascularizations D020256||neovascularization choroid D020256||neovascularization choroidal D020255||vitreous detachment D020255||detachment posterior vitreous D020255||detachments posterior vitreous D020255||detachments vitreous D020255||detachment vitreous D020255||posterior vitreous detachment D020255||posterior vitreous detachments D020255||vitreous detachment posterior D020255||vitreous detachments D020255||vitreous detachments posterior 168600||parkinson disease late onset 168600||park 168600||pd C573023|151001||lentiginosis profusa C573023|151001||lentiginosis diffuse C573023|151001||lentiginosis generalized C573023|151001||lentiginosis inherited patterned 168601||parkinson disease 1 autosomal dominant 168601||atypical parkinson disease included 168601||park1 168601||parkinson disease 1 autosomal dominant lewy body 612561|C538442||diamond blackfan anemia 6 612561||dba6 D007280||disorders of environmental origin C543241||cardiomyopathy fatal fetal due to myocardial calcification C543241||myocardial calcifications resulting in intrauterine fetal death D020243||infarction anterior cerebral artery D020243||aca infarction D020243||aca infarctions D020243||anterior cerebral artery infarction D020243||anterior cerebral artery stroke D020243||anterior cerebral artery syndrome D020243||artery infarction heubner D020243||artery infarction heubner apos s D020243||heubner artery infarction D020243||heubner apos s artery infarction D020243||heubners artery infarction D020243||infarction aca D020243||infarction anterior cerebral artery circulation D020243||infarction anterior cerebral artery distribution D020243||infarction heubner artery D020243||infarction heubner apos s artery D020243||infarctions aca D020243||stroke anterior cerebral artery D020243||syndrome anterior cerebral artery D020242||encephalomyelitis eastern equine D020242||eastern equine encephalitides D020242||eastern equine encephalitis D020242||eastern equine encephalomyelitides D020242||eastern equine encephalomyelitis D020242||encephalitides eastern equine D020242||encephalitis eastern equine D020242||encephalomyelitides eastern equine D020242||equine encephalitides eastern D020242||equine encephalitis eastern D020242||equine encephalomyelitides eastern D020242||equine encephalomyelitis eastern D020241||encephalomyelitis western equine D020241||encephalitis western equine D020241||equine encephalitis western D020241||western equine encephalitis D020241||western equine encephalomyelitis C567219||deafness autosomal recessive 36 without vestibular involvement D020240||apraxia ideomotor D020240||apraxia classic D020240||apraxia ideokinetic D020240||apraxia limb kinetic D020240||apraxias classic D020240||apraxias ideokinetic D020240||apraxias ideomotor D020240||apraxias limb kinetic D020240||apraxias transcortical D020240||apraxia transcortical D020240||classic apraxia D020240||classic apraxias D020240||dyspraxia ideomotor D020240||dyspraxias ideomotor D020240||ideokinetic apraxia D020240||ideokinetic apraxias D020240||ideomotor apraxia D020240||ideomotor apraxias D020240||ideomotor dyspraxia D020240||ideomotor dyspraxias D020240||kinetic apraxia limb D020240||kinetic apraxias limb D020240||limb kinetic apraxia D020240||limb kinetic apraxias D020240||transcortical apraxia D020240||transcortical apraxias C563691|609889||alpha beta t cell lymphopenia with gamma delta t cell expansion severe cytomegalovirus infection and autoimmunity D063371||myringosclerosis D063371||myringoscleroses D063371||tympanoscleroses D063371||tympanosclerosis 182920||myopathy spheroid body C565260|606082||goiter multinodular 3 C565260|606082||mng3 118450|D016738||alagille syndrome 118450|D016738||ahd 118450|D016738||alagille apos s syndrome 118450|D016738||alagilles syndrome 118450|D016738||alagille syndrome 1 118450|D016738||alagille syndrome 2 118450|D016738||alagille watson syndrome 118450|D016738||algs 118450|D016738||algs1 118450|D016738||algs2 118450|D016738||arteriohepatic dysplasia 118450|D016738||arteriohepatic dysplasia ahd 118450|D016738||aws 118450|D016738||cardiovertebral syndrome 118450|D016738||cholestasis with peripheral pulmonary stenosis 118450|D016738||ductular hypoplasia hepatic 118450|D016738||dysplasia arteriohepatic 118450|D016738||dysplasia arteriohepatic ahd 118450|D016738||hepatic ductular hypoplasia 118450|D016738||hepatic ductular hypoplasia syndromatic 118450|D016738||hepatofacioneurocardiovertebral syndrome 118450|D016738||hypoplasia hepatic ductular 118450|D016738||paucity of interlobular bile ducts 118450|D016738||syndrome alagille 118450|D016738||syndrome alagille apos s 118450|D016738||syndrome alagille watson 118450|D016738||syndrome cardiovertebral 118450|D016738||syndrome hepatofacioneurocardiovertebral 118450|D016738||syndrome watson alagille 118450|D016738||syndrome watson miller 118450|D016738||watson alagille syndrome 118450|D016738||watson miller syndrome D052556|257220||niemann pick disease type c D052556|257220||neurovisceral storage disease with vertical supranuclear ophthalmoplegia D052556|257220||neurovisceral storage disease with vertical supranuclear ophthalmoplegia niemann pick disease type d included D052556|257220||niemann pick disease chronic neuronopathic form D052556|257220||niemann pick disease nova scotian D052556|257220||niemann pick disease nova scotian type included D052556|257220||niemann pick disease subacute juvenile form D052556|257220||niemann pick disease type c1 D052556|257220||niemann pick disease type d D052556|257220||niemann pick disease with cholesterol esterification block D052556|257220||niemann pick disease without sphingomyelinase deficiency D052556|257220||niemann pick apos s disease type c D052556|257220||niemann pick apos s disease type d D052556|257220||nova scotia niemann pick disease type d D052556|257220||nova scotia type d form of niemann pick disease D052556|257220||npc1 613884||chromosome 13q14 deletion syndrome D020246||deep vein thromboses D020246||deep vein thrombosis D020246||deep venous thromboses D020246||deep venous thrombosis D020246||phlebothromboses D020246||phlebothrombosis D020246||thromboses deep vein D020246||thromboses deep venous D020246||thromboses venous D020246||thrombosis deep vein D020246||thrombosis deep venous D020246||thrombosis venous D020246||vein thromboses deep D020246||vein thrombosis deep D020246||venous thromboses D020246||venous thromboses deep D020246||venous thrombosis deep D020244||infarction middle cerebral artery D020244||cerebral infarction middle cerebral artery D020244||embolic infarction middle cerebral artery D020244||embolus middle cerebral artery D020244||left middle cerebral artery infarction D020244||mca infarction D020244||middle cerebral artery circulation infarction D020244||middle cerebral artery embolic infarction D020244||middle cerebral artery embolus D020244||middle cerebral artery infarction D020244||middle cerebral artery occlusion D020244||middle cerebral artery stroke D020244||middle cerebral artery syndrome D020244||middle cerebral artery thrombosis D020244||middle cerebral artery thrombotic infarction D020244||occlusion middle cerebral artery D020244||right middle cerebral artery infarction D020244||stroke middle cerebral artery D020244||thrombosis middle cerebral artery D020244||thrombotic infarction middle cerebral artery D007299||insect bites and stings D007299||bite insect D007299||bites insect D007299||insect bite D007299||insect bites D007299||insect sting D007299||insect stings D007299||sting insect D007299||stings insect 612555||breast ovarian cancer familial susceptibility to 2 612555||breast cancer familial susceptibility to 2 included 612555||brovca2 612555||ovarian cancer familial susceptibility to 2 included C536911|155240||familial medullary thyroid carcinoma C536911|155240||fmtc C536911|155240||medullary thyroid cancer familial C536911|155240||mtc C536911|155240||mtc1 C536911|155240||thyroid cancer familial medullary C536911|155240||thyroid carcinoma familial medullary 612551||focal segmental glomerulosclerosis 4 susceptibility to 612551||end stage renal disease nondiabetic susceptibility to included 612551||fsgs4 D050072||white heifer disease D050072||disease white heifer 201250||amdh C567220||kallmann syndrome 5 C538261|608583||atrial fibrillation familial 1 C538261|608583||atfb1 C538261|608583||atrial fibrillation autosomal dominant C538261|608583||autosomal dominant atrial fibrillation C567221||microcephaly primary autosomal recessive 5 with simplified gyral pattern D013584|300813||sarcoma synovial D013584|300813||sarcomas synovial D013584|300813||synovial sarcoma D013584|300813||synovial sarcomas D013584|300813||synovioma D013584|300813||synoviomas D020232||kluver bucy syndrome D020232||syndrome kluver bucy D020232||temporal lobectomy behavior syndrome 155310|D007418||visceral myopathy 155310||infantile visceral myopathy 155310|C563597||megaduodenum and or megacystis 155310||mmih 155310||vscm C566584|602086||arrhythmogenic right ventricular dysplasia familial 3 C566584|602086||arrhythmogenic right ventricular cardiomyopathy 3 C566584|602086||arvc3 C566584|602086||arvd3 D020230||serotonin syndrome D020230||serotonin syndromes D020230||syndrome serotonin D020230||syndromes serotonin D020238||prosopagnosia D020238||acquired prosopagnosia D020238||acquired prosopagnosias D020238||agnosia facial recognition D020238||agnosia for face D020238||agnosia for faces D020238||agnosias facial recognition D020238||developmental prosopagnosia D020238||developmental prosopagnosias D020238||facial recognition agnosia D020238||facial recognition agnosias D020238||prosopagnosia acquired D020238||prosopagnosia developmental D020238||prosopagnosias D020238||prosopagnosias acquired D020238||prosopagnosias developmental D020238||recognition agnosia facial D020238||recognition agnosias facial D020237||alexia pure D020237||agnosias visual verbal D020237||agnosia visual verbal D020237||agraphia alexia without D020237||agraphias alexia without D020237||alexias pure D020237||alexia syndrome without agraphia D020237||alexia without agraphia D020237||alexia without agraphias D020237||blindnesses pure word D020237||blindness pure word D020237||pure alexia D020237||pure alexias D020237||pure alexia without agraphia D020237||pure word blindness D020237||pure word blindnesses D020237||verbal agnosias visual D020237||verbal agnosia visual D020237||visual verbal agnosia D020237||visual verbal agnosias D020237||without agraphia alexia D020237||without agraphias alexia D020237||word blindnesses pure D020237||word blindness pure D020236||amnesia transient global D020236||global amnesia transient D020236||tgas transient global amnesia D020236||tga transient global amnesia D020236||transient global amnesia C565557|230450||gamma glutamylcysteine synthetase deficiency hemolytic anemia due to 266140|C563004||pyropoikilocytosis hereditary D020235||gait apraxia D020235||apraxia bruns apos gait D020235||apraxia frontal gait D020235||apraxia gait D020235||apraxia of gait D020235||apraxias bruns apos gait D020235||apraxias frontal gait D020235||apraxias gait D020235||bruns apraxia gait D020235||bruns apos apraxia gait D020235||bruns apos apraxia of gait D020235||bruns gait apraxia D020235||bruns apos gait apraxia D020235||bruns apos gait apraxias D020235||dyspraxia of gait D020235||frontal gait apraxia D020235||frontal gait apraxias D020235||gait apraxia bruns apos D020235||gait apraxia frontal D020235||gait apraxias D020235||gait apraxias bruns apos D020235||gait apraxias frontal D020235||gait dyspraxia D020235||gait dyspraxias D008589||meningococcal infections D008589||infection meningococcal D008589||infections meningococcal D008589||meningococcal infection D020234||gait ataxia D020234||ataxia cerebellar gait D020234||ataxia gait D020234||ataxia of gait D020234||ataxias cerebellar gait D020234||ataxia sensory gait D020234||ataxias gait D020234||ataxias sensory gait D020234||cerebellar gait D020234||cerebellar gait ataxia D020234||cerebellar gait ataxias D020234||cerebellar gaits D020234||gait ataxia cerebellar D020234||gait ataxias D020234||gait ataxias cerebellar D020234||gait ataxia sensory D020234||gait ataxias sensory D020234||gait cerebellar D020234||gaits cerebellar D020234||sensory gait ataxia D020234||sensory gait ataxias D015209|613806||cholangitis sclerosing D015209|613806||cholangiitides sclerosing D015209|613806||cholangiitis sclerosing D015209|613806||cholangitides primary sclerosing D015209|613806||cholangitides sclerosing D015209|613806||cholangitis primary sclerosing D015209|613806||primary sclerosing cholangitides D015209|613806||primary sclerosing cholangitis D015209|613806||psc D015209|613806||sclerosing cholangiitides D015209|613806||sclerosing cholangiitis D015209|613806||sclerosing cholangitides D015209|613806||sclerosing cholangitides primary D015209|613806||sclerosing cholangitis D015209|613806||sclerosing cholangitis primary D008588||meningocele D008588||acquired meningocele D008588||acquired meningoceles D008588||herniation meningeal D008588||herniation of meninges D008588||herniations meningeal D008588||meningeal herniation D008588||meningeal herniations D008588||meninges herniation D008588||meninges herniations D008588||meningocele acquired D008588||meningocele rudimentary D008588||meningoceles D008588||meningoceles acquired D008588||meningoceles rudimentary D008588||meningoceles traumatic D008588||meningocele traumatic D008588||rudimentary meningocele D008588||rudimentary meningoceles D008588||traumatic meningocele D008588||traumatic meningoceles D020233||gait disorders neurologic D020233||ambulation disorder neurologic D020233||ambulation disorders neurologic D020233||athetotic gait D020233||broadened gait D020233||charcot gait D020233||charcot gaits D020233||charcot apos s gait D020233||charcots gait D020233||drop foot gait D020233||duck gait D020233||festinating gait D020233||foot gait drop D020233||frontal gait D020233||gait athetotic D020233||gait broadened D020233||gait charcot D020233||gait charcot apos s D020233||gait disorder neurologic D020233||gait disorder sensorimotor D020233||gait disorders sensorimotor D020233||gait drop foot D020233||gait duck D020233||gait dysfunction neurologic D020233||gait dysfunctions neurologic D020233||gait festinating D020233||gait frontal D020233||gait hemiplegic D020233||gait hysterical D020233||gait reeling D020233||gait rigid D020233||gaits charcot D020233||gait scissors D020233||gait shuffling D020233||gait spastic D020233||gait stumbling D020233||gait unsteady D020233||gait widebased D020233||hemiplegic gait D020233||hysterical gait D020233||locomotion disorder neurologic D020233||locomotion disorders neurologic D020233||marche a petit pas D020233||neurologic ambulation disorder D020233||neurologic ambulation disorders D020233||neurologic gait disorder D020233||neurologic gait disorders D020233||neurologic gait dysfunction D020233||neurologic gait dysfunctions D020233||neurologic locomotion disorder D020233||neurologic locomotion disorders D020233||rapid fatigue of gait D020233||reeling gait D020233||rigid gait D020233||scissors gait D020233||sensorimotor gait disorder D020233||sensorimotor gait disorders D020233||shuffling gait D020233||shuffling gaits D020233||spastic gait D020233||stumbling gait D020233||unsteady gait D020233||widebased gait D008587||meningitis viral D008587||meningitides viral D008587||viral meningitides D008587||viral meningitis C567802|613055||atrial fibrillation familial 8 C567802|613055||atfb8 D008595||menorrhagia D008595||hypermenorrhea D008594||menopause premature D008594||premature menopause 612542||vitamin b12 plasma level quantitative trait locus 1 612542||b12qtl1 D008591||meningomyelocele D008591||acquired meningomyelocele D008591||acquired meningomyeloceles D008591||acquired myelomeningocele D008591||acquired myelomeningoceles D008591||meningomyelocele acquired D008591||meningomyeloceles D008591||meningomyeloceles acquired D008591||myelocele D008591||myeloceles D008591||myelomeningocele D008591||myelomeningocele acquired D008591||myelomeningoceles D008591||myelomeningoceles acquired D008590||meningoencephalitis D008590||cerebromeningitides D008590||cerebromeningitis D008590||encephalomeningitides D008590||encephalomeningitis D008590||meningoencephalitides C536194|130000||ehlers danlos syndrome type 1 C536194|130000||eds1 C536194|130000||eds i C536194|130000||ehlers danlos syndrome classic severe form C536194|130000||ehlers danlos syndrome gravis type C536194|130000||ehlers danlos syndrome severe classic type C536194|130000||ehlers danlos syndrome type i C567715|613180||polymicrogyria with optic nerve hypoplasia C563933|600496||maturity onset diabetes of the young type 3 C563933|600496||mody3 C563933|600496||mody type 3 D020221||optic nerve injuries D020221||avulsion optic nerve D020221||avulsions optic nerve D020221||contusion optic nerve D020221||contusions optic nerve D020221||cranial nerve ii injuries D020221||injuries optic nerve D020221||injury optic nerve D020221||nerve avulsion optic D020221||nerve avulsions optic D020221||nerve contusion optic D020221||nerve contusions optic D020221||nerve injuries optic D020221||nerve injury optic D020221||nerve transection optic D020221||nerve transections optic D020221||nerve trauma optic D020221||nerve traumas optic D020221||neuropathies traumatic optic D020221||neuropathy traumatic optic D020221||optic nerve avulsion D020221||optic nerve avulsions D020221||optic nerve contusion D020221||optic nerve contusions D020221||optic nerve injury D020221||optic nerve transection D020221||optic nerve transections D020221||optic nerve trauma D020221||optic nerve traumas D020221||optic neuropathies traumatic D020221||optic neuropathy traumatic D020221||second cranial nerve injuries D020221||second cranial nerve trauma D020221||transection optic nerve D020221||transections optic nerve D020221||trauma optic nerve D020221||trauma second cranial nerve D020221||traumas optic nerve D020221||traumatic optic neuropathies D020221||traumatic optic neuropathy D020220||facial nerve injuries D020220||avulsion facial nerve D020220||avulsions facial nerve D020220||cranial nerve vii injuries D020220||facial nerve avulsion D020220||facial nerve avulsions D020220||facial nerve injury D020220||facial nerve trauma D020220||facial nerve traumas D020220||facial neuropathies traumatic D020220||facial neuropathy traumatic D020220||injuries cranial nerve vii D020220||injuries facial nerve D020220||injuries seventh cranial nerve D020220||injury facial nerve D020220||nerve avulsion facial D020220||nerve avulsions facial D020220||nerve injuries facial D020220||nerve injury facial D020220||nerve trauma facial D020220||nerve traumas facial D020220||neuropathies traumatic facial D020220||neuropathy traumatic facial D020220||seventh cranial nerve injuries D020220||trauma facial nerve D020220||traumas facial nerve D020220||traumatic facial neuropathies D020220||traumatic facial neuropathy C567924|308350||epileptic encephalopathy early infantile 1 C567924|308350||eiee1 C567924|308350||infantile epileptic dyskinetic encephalopathy C567924|308350||infantile spasm syndrome x linked 1 C567924|308350||issx1 C567924|308350||ohtahara syndrome x linked C567924|308350||west syndrome x linked C567924|308350||xmesid C538275|240300||aps1 C538275|240300||aps i C538275|240300||autoimmune polyendocrine syndrome type 1 C538275|240300||autoimmune polyendocrine syndrome type i with or without reversible metaphyseal dysplasia C538275|240300||autoimmune polyendocrinopathy candidiasis ectodermal dystrophy apeced C538275|240300||autoimmune polyendocrinopathy syndrome type i autosomal dominant C538275|240300||autoimmune polyendocrinopathy syndrome type i with reversible metaphyseal dysplasia C538275|240300||hypoadrenocorticism with hypoparathyroidism and superficial moniliasis C538275|240300||hypoadrenocorticism with hypoparathyroidism and superficial moniliasis autoimmune polyendocrinopathy syndrome type i autosomal dominant included C538275|240300||pga i C538275|240300||polyglandular deficiency syndrome persian jewish type C538275|240300||polyglandular deficiency syndrome persian jewish type included 604116|C565827||cone rod dystrophy 3 604116|C565827||cord3 C567196|612713||kahrizi syndrome C567196|612713||khrz C567196|612713||mental retardation cataract coloboma and kyphosis autosomal recessive D020227||lateral sinus thrombosis D020227||lateral sinus thrombophlebitis D020227||lateral sinus thromboses D020227||phlebitis lateral sinus septic D020227||septic phlebitis lateral sinus D020227||sinus thromboses transverse D020227||thrombophlebitis lateral sinus D020227||thromboses lateral sinus D020227||thromboses transverse sinus D020227||thrombosis lateral sinus D020227||thrombosis transverse sinus D020227||transverse sinus thromboses D020227||transverse sinus thrombosis D020226||cavernous sinus thrombosis D020226||cavernous sinus phlebitis septic D020226||cavernous sinus thrombophlebitides D020226||cavernous sinus thrombophlebitis D020226||cavernous sinus thromboses D020226||caverous sinus septic phlebitis D020226||phlebitis cavernous sinus septic D020226||septic phlebitis cavernous sinus D020226||sinus thrombophlebitides cavernous D020226||sinus thrombophlebitis cavernous D020226||sinus thromboses cavernous D020226||sinus thrombosis cavernous D020226||thrombophlebitides cavernous sinus D020226||thrombophlebitis cavernous sinus D020226||thromboses cavernous sinus D020226||thrombosis cavernous sinus D020225||sagittal sinus thrombosis D020225||phlebitis sagittal sinus septic D020225||sagittal sinus septic phlebitis D020225||sagittal sinus thrombophlebitis D020225||sagittal sinus thromboses D020225||septic phlebitis sagittal sinus D020225||sinus thrombophlebitis sagittal D020225||sinus thromboses sagittal D020225||sinus thrombosis sagittal D020225||thrombophlebitis sagittal sinus D020225||thromboses sagittal sinus D020225||thrombosis sagittal sinus D008599||menstruation disturbances D008599||disorder menstruation D008599||disorders menstruation D008599||disturbance menstruation D008599||disturbances menstruation D008599||hypomenorrhea D008599||hypomenorrheas D008599||menstruation disorder D008599||menstruation disorders D008599||menstruation disturbance D008599||menstruation retrograde D008599||menstruations retrograde D008599||polymenorrhea D008599||polymenorrheas D008599||retrograde menstruation D008599||retrograde menstruations D020222||abducens nerve injury D020222||abducens nerve injuries D020222||abducens nerve trauma D020222||abducens nerve traumas D020222||abducens neuropathies traumatic D020222||abducens neuropathy traumatic D020222||cranial nerve vi injury D020222||injuries abducens nerve D020222||injury abducens nerve D020222||injury cranial nerve vi D020222||injury sixth cranial nerve D020222||nerve injuries abducens D020222||nerve injury abducens D020222||nerve trauma abducens D020222||nerve traumas abducens D020222||sixth cranial nerve injuries D020222||sixth cranial nerve injury D020222||sixth nerve palsies traumatic D020222||sixth nerve palsy traumatic D020222||sixth nerve trauma D020222||sixth nerve traumas D020222||trauma abducens nerve D020222||traumas abducens nerve D020222||trauma sixth nerve D020222||traumas sixth nerve D020222||traumatic abducens neuropathies D020222||traumatic abducens neuropathy D020222||traumatic sixth nerve palsies D020222||traumatic sixth nerve palsy D050090||ovotesticular disorders of sex development D050090|400045||46 xx gonadal dysgenesis complete sry positive D050090||46 xx true hermaphroditism sry positive D050090||dsd ovotesticular D050090||dsds ovotesticular D050090||familial true hermaphroditism D050090||familial true hermaphroditisms D050090||familial xx true hermaphroditism D050090||hermaphroditism familial true D050090||hermaphroditisms familial true D050090||hermaphroditisms true D050090||hermaphroditism true D050090||ovotesticular disorder of sex development D050090||ovotesticular dsd D050090||ovotesticular dsds D050090||true hermaphroditism D050090||true hermaphroditism familial D050090||true hermaphroditisms D050090||true hermaphroditisms familial D050090||xx male syndrome sry positive 613857||orofacial cleft 13 613857||ofc13 166200|D010013||osteogenesis imperfecta 166200|D010013||brittle bone disease 166200|D010013||disease lobstein 166200|D010013||disease lobstein apos s 166200|D010013||fragilitas ossium 166200|D010013||lobstein disease 166200|D010013||lobstein apos s disease 166200|D010013||lobsteins disease 166200|D010013||oi1 166200|D010013||oi type i 166200|D010013||ossiums fragilitas 166200|D010013||osteogenesis imperfecta tarda 166200|D010013||osteogenesis imperfecta tardas 166200|D010013||osteogenesis imperfecta type 1 166200|D010013||osteogenesis imperfecta type i 166200|D010013||osteogenesis imperfecta with blue sclerae 166200|D010013||osteogenesis imperfecta with blue sclerae osteopenic nonfracture syndrome included C567144|206100||anemia hypochromic microcytic with iron overload C567144|206100||ahmio1 C567144|206100||anemia hypochromic microcytic with iron overload 1 C567200||immunodeficiency hypogammaglobulinemia and reduced b cells C567200||cd79b deficiency C567200||igb deficiency D019247||hiv wasting syndrome D019247||aids wasting syndrome D019247||hiv wasting disease D019247||slim disease D019247||wasting disease hiv D019247||wasting syndrome aids D019247||wasting syndrome hiv C566578|602096||alzheimer disease 5 C566578|602096||ad5 C566578|602096||alzheimer disease familial 5 C564665|606766||azoospermia nonobstructive C564665|606766||spermatogenic failure 3 C564665|606766||spgf3 604004|C536141||megalencephalic leukoencephalopathy with subcortical cysts 604004|C536141||infantile leukoencephalopathy and megalencephaly 604004|C536141||leukoencephalopathy with swelling and a discrepantly mild course 604004|C536141||leukoencephalopathy with swelling and cysts 604004|C536141||lvm 604004|C536141||megalencephalic leukoencephalopathy with subcortical cysts 1 604004|C536141||megalencephaly cystic leukodystrophy 604004|C536141||mlc1 604004|C536141||vacuolating leukoencephalopathy 604004|C536141||vacuolating megalencephalic leukoencephalopathy with subcortical cysts 604004|C536141||van der knaap disease 604004|C536141||van der knapp disease 604004|C536141||vl D020331|C535807|157900||mobius syndrome D020331||congenital oculofacial paralysis moebius D020331||congenital ophthalmoplegia and facial paresis D020331||m 246 bius sequence D020331||mobius syndromes D020331||moebius congenital oculofacial paralysis D020331|C535807|157900||moebius sequence D020331||moebius spectrum D020331|C535807|157900||moebius syndrome D020331||moebius syndromes D020330||bell palsy D020330||acute idiopathic facial neuropathy D020330||acute inflammatory facial neuropathy D020330||bell palsies D020330||bell apos s palsies D020330||bell apos s palsy D020330||bells palsy D020330||facial neuropathy idiopathic acute D020330||facial neuropathy inflammatory acute D020330||facial paralyses herpetic D020330||facial paralyses idiopathic D020330||facial paralysis herpetic D020330||facial paralysis idiopathic D020330||herpetic facial paralyses D020330||herpetic facial paralysis D020330||idiopathic acute facial neuropathy D020330||idiopathic facial paralyses D020330||idiopathic facial paralysis D020330||inflammatory facial neuropathy acute D020330||palsies bell D020330||palsies bell apos s D020330||palsy bell D020330||palsy bell apos s D020330||paralyses herpetic facial D020330||paralyses idiopathic facial D020330||paralysis herpetic facial D020330||paralysis idiopathic facial C567524||nevus flammeus of nape of neck C567524||erythema nuchae C567524||unna nevus C536150|132800||keratoacanthoma familial C536150|132800||epithelioma self healing squamous 1 C536150|132800||ess1 formerly C536150|132800||ferguson smith type epithelioma C536150|132800||msse C536150|132800||multiple self healing squamous epithelioma C536150|132800||multiple self healing squamous epithelioma susceptibility to D020339||optic nerve glioma D020339||adult optic nerve glioma D020339||astrocytoma malignant optic nerve D020339||childhood optic nerve glioma D020339||glioma optic D020339||glioma optic nerve D020339||glioma optic nerve adult D020339||glioma optic nerve childhood D020339||gliomas optic D020339||gliomas optic nerve D020339||malignant astrocytoma optic nerve D020339||malignant optic nerve astrocytoma D020339||optic glioma D020339||optic gliomas D020339||optic nerve glioma adult D020339||optic nerve glioma childhood D020339||optic nerve gliomas D020339||optic nerve malignant astrocytoma D020338||vestibular neuronitis D020338||acute peripheral vestibulopathies D020338||acute peripheral vestibulopathy D020338||acute vestibular neuritides D020338||acute vestibular neuritis D020338||epidemic neurolabyrinthitides D020338||epidemic neurolabyrinthitis D020338||episodic recurrent vertigo D020338||episodic recurrent vertigos D020338||inflammations vestibular nerve D020338||inflammation vestibular nerve D020338||nerve inflammations vestibular D020338||nerve inflammation vestibular D020338||nerve neuritides vestibular D020338||nerve neuritis vestibular D020338||neuritides acute vestibular D020338||neuritides recurrent vestibular D020338||neuritides subacute vestibular D020338||neuritides vestibular D020338||neuritides vestibular nerve D020338||neuritis acute vestibular D020338||neuritis recurrent vestibular D020338||neuritis subacute vestibular D020338||neuritis vestibular D020338||neuritis vestibular nerve D020338||neurolabyrinthitides epidemic D020338||neurolabyrinthitis epidemic D020338||neuronitides vestibular D020338||neuronitis vestibular D020338||neuropathies vestibular D020338||neuropathy vestibular D020338||peripheral vestibulopathies acute D020338||peripheral vestibulopathy acute D020338||recurrent vertigo episodic D020338||recurrent vertigos episodic D020338||recurrent vestibular neuritides D020338||recurrent vestibular neuritis D020338||recurrent vestibulopathies D020338||recurrent vestibulopathy D020338||subacute vestibular neuritides D020338||subacute vestibular neuritis D020338||vertigo episodic recurrent D020338||vertigos episodic recurrent D020338||vestibular nerve inflammation D020338||vestibular nerve inflammations D020338||vestibular nerve neuritides D020338||vestibular nerve neuritis D020338||vestibular neuritides D020338||vestibular neuritides acute D020338||vestibular neuritides recurrent D020338||vestibular neuritides subacute D020338||vestibular neuritis D020338||vestibular neuritis acute D020338||vestibular neuritis recurrent D020338||vestibular neuritis subacute D020338||vestibular neuronitides D020338||vestibular neuropathies D020338||vestibular neuropathy D020338||vestibulopathies acute peripheral D020338||vestibulopathies recurrent D020338||vestibulopathy acute peripheral D020338||vestibulopathy recurrent D006029||glycosuria D020336||paraparesis spastic D020336||lower extremity weakness spastic D020336||parapareses spastic D020336||spastic lower extremity weakness D020336||spastic parapareses D020336||spastic paraparesis D020335||paraparesis D020335||cerebral paraparesis D020335||chronic progressive paraparesis D020335||hypotonic paraparesis D020335||parapareses D020335||paraparesis cerebral D020335||paraparesis chronic progressive D020335||paraparesis hypotonic D020335||paraparesis spinal D020335||progressive paraparesis chronic D020335||spinal paraparesis C567528||encephalocardiomyopathy mitochondrial neonatal due to atp synthase deficiency D020333||tolosa hunt syndrome D019339||nevus flammeus D019339||port wine stains D019339||stain port wine D019339||stains port wine C563444|600792||deafness autosomal recessive 5 C563444|600792||dfnb5 C563444|600792||neurosensory nonsyndromic recessive deafness 5 C563444|600792||nsrd5 C536360|608542||aneurysm intracranial berry 2 C536360|608542||anib2 D019337||hematologic neoplasms D019337||hematological malignancies D019337||hematological malignancy D019337||hematological neoplasm D019337||hematological neoplasms D019337||hematologic malignancies D019337||hematologic malignancy D019337||hematologic neoplasm D019337||hematopoietic malignancies D019337||hematopoietic malignancy D019337||hematopoietic neoplasm D019337||hematopoietic neoplasms D019337||malignancies hematologic D019337||malignancies hematological D019337||malignancies hematopoietic D019337||malignancy hematologic D019337||malignancy hematological D019337||malignancy hematopoietic D019337||neoplasm hematologic D019337||neoplasm hematological D019337||neoplasm hematopoietic D019337||neoplasms hematologic D019337||neoplasms hematological D019337||neoplasms hematopoietic 194071|C536853||familial wilms tumor 2 194071|C536853||wilms tumor 2 194071|C536853||wt2 C566431|610599||retinitis pigmentosa 36 C566431|610599||rp36 C566204||brachydactyly long thumb type C567535||megalencephaly C566206||brachmann de lange like facial changes with microcephaly metatarsus adductus and developmental delay D019351||rubulavirus infections D019351||infection rubulavirus D019351||infections rubulavirus D019351||rubulavirus infection D019350||astroviridae infections D019350||astroviridae infection D019350||infection astroviridae D019350||infections astroviridae C567533||anemia nonspherocytic hemolytic due to g6pd deficiency D020324||amnesia anterograde D020324||amnesia post ictal D020324||amnesias anterograde D020324||amnesias post ictal D020324||anterograde amnesia D020324||anterograde amnesias D020324||anterograde memory loss D020324||anterograde memory losses D020324||losses post ictal memory D020324||loss post ictal memory D020324||memory loss anterograde D020324||memory losses anterograde D020324||memory losses post ictal D020324||memory loss post ictal D020324||post ictal amnesia D020324||post ictal amnesias D020324||post ictal memory loss D020324||post ictal memory losses D020323||tics D020323||chorea habit D020323||choreas habit D020323||gestural tic D020323||gestural tics D020323||habit chorea D020323||habit choreas D020323||habit spasm D020323||habit spasms D020323||habituation spasm D020323||habituation spasms D020323||motor tic D020323||motor tics D020323||spasm habit D020323||spasm habituation D020323||spasms habit D020323||spasms habituation D020323||tic D020323||tic gestural D020323||tic motor D020323||tics gestural D020323||tics motor D020323||tics transient D020323||tics vocal D020323||tic transient D020323||tic vocal D020323||transient tic D020323||transient tics D020323||vocal tic D020323||vocal tics D006044||goiter nodular D006044||goiters nodular D006044||nodular goiter D006044||nodular goiters D006045||goiter substernal D006045||goiter intrathoracic D006045||goiters intrathoracic D006045||goiters substernal D006045||intrathoracic goiter D006045||intrathoracic goiters D006045||substernal goiter D006045||substernal goiters C567406|612161||aneurysm intracranial berry 7 C567406|612161||anib7 D056730|180860||silver russell syndrome D056730|180860||dwarfism silver russell D056730|180860||russell silver syndrome D056730|180860||silver russell dwarfism D056730|180860||syndrome russell silver D056730|180860||syndrome silver russell D006042||goiter D006042||goiters D006043||goiter endemic D006043||endemic goiter D006043||endemic goiters D006043||goiters endemic 192200|D014648||varicose veins 192200|D014648||varices 192200|D014648||varicose vein 192200|D014648||varix 192200|D014648||veins varicose 192200|D014648||vein varicose C536339|175900||porokeratosis disseminated superficial actinic 1 C536339|175900||dsap C536339|175900||dsap1 C536339|175900||porok3 C536339|175900||porokeratosis 3 disseminated superficial actinic type C580500||trisomy 18 C580500||complete trisomy 18 syndrome C580500||edwards syndrome C580500||trisomy 18 syndrome C580500||trisomy e syndrome D020329||essential tremor D020329||benign essential tremor D020329||benign essential tremors D020329||essential tremor benign D020329||essential tremors D020329||essential tremors benign D020329||familial tremor D020329||familial tremors D020329||hereditary essential tremor D020329||tremor benign essential D020329||tremor essential D020329||tremor familial D020329||tremors benign essential D020329||tremors essential D020329||tremors familial C562769|274700||thyroid dyshormonogenesis 3 C562769|274700||hypothyroidism congenital due to dyshormonogenesis 3 C562769|274700||tdh3 C562769|274700||thyroid hormonogenesis genetic defect in 3 607965||systemic lupus erythematosus with nephritis susceptibility to 1 607965||slen1 D019349||roseolovirus infections D019349||infection roseolovirus D019349||infections roseolovirus D019349||roseolovirus infection 606353|C536416||primary lateral sclerosis juvenile 606353|C536416||juvenile primary lateral sclerosis 606353|C536416||plsj 606353|C536416||pls juvenile 257980|C537742||odontoonychodermal dysplasia 257980|C537742||oodd D006467|306700||hemophilia a D006467|306700||as autosomal hemophilia D006467|306700||autosomal hemophilia a D006467|306700||autosomal hemophilia as D006467|306700||classic hemophilia D006467|306700||classic hemophilias D006467|306700||congenital hemophilia a D006467|306700||congenital hemophilia as D006467|306700||deficiency factor viii D006467|306700||factor 8 deficiency congenital D006467|306700||factor viii deficiency D006467|306700||factor viii deficiency congenital D006467|306700||haemophilia D006467|306700||hema D006467|306700|D006467|D002836||hemophilia D006467|306700||hemophilia a autosomal D006467|306700||hemophilia a congenital D006467|306700||hemophilia as D006467|306700||hemophilia as autosomal D006467|306700||hemophilia as congenital D006467|306700||hemophilia classic D006467|306700||hemophilias classic C566210||rh null disease amorph type 607967||systemic lupus erythematosus with nephritis susceptibility to 3 607967||slen3 607966||systemic lupus erythematosus with nephritis susceptibility to 2 607966||slen2 D019320||embolism paradoxical D019320||crossed embolism D019320||crossed embolisms D019320||embolism crossed D019320||embolisms crossed D019320||embolisms paradoxical D019320||paradoxical embolism D019320||paradoxical embolisms C567503||mesomelic dysplasia camera type C535741|603147||congenital disorder of glycosylation type 1c C535741|603147||carbohydrate deficient glycoprotein syndrome type i with deficient glycosylation of dolichol linked oligosaccharide formerly C535741|603147||carbohydrate deficient glycoprotein syndrome type v C535741|603147||carbohydrate deficient glycoprotein syndrome type v formerly C535741|603147||cdg1c C535741|603147||cdgic C535741|603147||cdg ic C535741|603147||cdgs5 formerly C535741|603147||congenital disorder of glycosylation type ic 607949||mycobacterium tuberculosis susceptibility to 1 607949||mtbs1 607948||mycobacterium tuberculosis susceptibility to 607948||mycobacterium tuberculosis protection against included C566600|601952||keratosis linearis with ichthyosis congenita and sclerosing keratoderma C566600|601952||klick syndrome D006008||glycogen storage disease D006008||disease glycogen storage D006008||diseases glycogen storage D006008||glycogenoses D006008||glycogenosis D006008||glycogen storage diseases D006008||storage disease glycogen D006008||storage diseases glycogen C567469|300717||myopathy reducing body x linked early onset severe D020315||latex hypersensitivity D020315||allergies latex D020315||allergies rubber D020315||allergies rubber latex D020315||allergy latex D020315||allergy rubber D020315||allergy rubber latex D020315||hypersensitivities latex D020315||hypersensitivity latex D020315||latex allergies D020315||latex allergy D020315||latex hypersensitivities D020315||natural rubber latex allergy D020315||rubber allergies D020315||rubber allergy D020315||rubber latex allergies D020315||rubber latex allergy D020314||central nervous system fungal infections D020314||central nervous system mycoses D020314||fungal infections central nervous system D020314||infections fungal central nervous system D020314||mycoses central nervous system D009999||ossification heterotopic D009999||ectopic ossification D009999||heterotopic ossification D009999||ossification ectopic D009999||ossification pathologic D009999||ossification pathological D009999||pathological ossification D009999||pathologic ossification D007333||insulin resistance D007333||insulin sensitivity D007333||resistance insulin D007333||sensitivity insulin C567036|604625||tooth agenesis selective 3 C567036|604625||hypodontia oligodontia 3 C567036|604625||sthag3 D008664||metal metabolism inborn errors D008664||metal metabolism inborn error D056828|610618||hereditary angioedema type iii D056828|610618||angioedema estrogen sensitive hereditary D056828|610618||angioedema hereditary type iii D056828|610618||angioedemas estrogen sensitive hereditary D056828|610618||angioneurotic edema hereditary with normal c1 inhibitor concentration and function D056828|610618||estrogen related hae D056828|610618||estrogen related haes D056828|610618||estrogen sensitive hae D056828|610618||estrogen sensitive haes D056828|610618||estrogen sensitive hereditary angioedema D056828|610618||estrogen sensitive hereditary angioedemas D056828|610618||hae3 D056828|610618||hae estrogen related D056828|610618||hae estrogen sensitive D056828|610618||hae iii D056828|610618||haes estrogen related D056828|610618||haes estrogen sensitive D056828|610618||hae with normal c1 inhibitor concentration and function D056828|610618||hereditary angioedema estrogen sensitive D056828|610618||hereditary angioedemas estrogen sensitive D056828|610618||hereditary angioedema with normal c1 inhibitor activity C567201|612691||polymicrogyria bilateral occipital D010985||platybasia D010985||basilar impression D010985||basilar impressions D010985||impression basilar D010985||impressions basilar D010985||platybasias C566398|603218||huntington disease like 1 C566398|603218||hdl1 C566398|603218||hln1 C566398|603218||huntington like neurodegenerative disorder 1 C566398|603218||huntington like neurodegenerative disorder autosomal dominant C566398|603218||prion disease early onset with prominent psychiatric features C563065|302000||bullous dystrophy hereditary macular type C563065|302000||ebm C563065|302000||epidermolysis bullosa macular type D058968||pythiosis 607039|C564633||deafness autosomal recessive 22 607039|C564633||dfnb22 D019318||porcine reproductive and respiratory syndrome D019318||blue eared pig disease D019318||mystery swine disease D019318||pig disease blue eared D019318||porcine epidemic abortion and respiratory syndrome D019318||prrs D019318||swine disease mystery D019318||swine infertility and respiratory syndrome D019315||retrobulbar hemorrhage D019315||hemorrhage retrobulbar D019315||retrobulbar hemorrhages D056304||genu valgum D056304||genu valga D056304||genu valgas D056304||genu valgums D056304||knees knock D056304||knock knee D056304||knock knees D056304||valga genu D056304||valgas genu C535413|606595||charcot marie tooth disease type 2f C535413|606595||charcot marie tooth disease axonal type 2f C535413|606595||charcot marie tooth disease neuronal type 2f C535413|606595||charcot marie tooth neuropathy type 2f C535413|606595||cmt2f C535413|606595||cmt 2f D056305||genu varum D056305||bow leg D056305||bow legs D056305||genu varus D056305||leg bow D056305||legs bow C567516||temple baraitser syndrome C567516||mental retardation severe and absent nails of hallux and pollex C536078|307000||hydrocephalus x linked C536078|307000||aqueductal stenosis x linked C536078|307000||aqueductal stenosis x linked xlas hydrocephalus x linked with congenital idiopathic intestinal pseudoobstruction included C536078|307000||hsas C536078|307000||hsas1 C536078|307000||hycx C536078|307000||hydrocephalus due to congenital stenosis of aqueduct of sylvius C567511||chromosome 22q11 2 deletion syndrome distal C567511||distal chromosome 22q11 2 deletion syndrome D020306||tuberculosis central nervous system D020306||central nervous system tuberculosis D008679||metaplasia D006015||glycogen storage disease type viii D006015||glycogenosis 8 C567518||bestrophinopathy D020301||vasospasm intracranial D020301||angiospasm cerebral D020301||angiospasm intracranial D020301||angiospasms cerebral D020301||angiospasms intracranial D020301||artery spasm cerebral D020301||artery spasms cerebral D020301||cerebral angiospasm D020301||cerebral angiospasms D020301||cerebral artery spasm D020301||cerebral artery spasms D020301||cerebral vasospasm D020301||cerebral vasospasms D020301||cerebrovascular spasm D020301||cerebrovascular spasms D020301||intracranial angiospasm D020301||intracranial angiospasms D020301||intracranial vascular spasm D020301||intracranial vascular spasms D020301||intracranial vasospasm D020301||intracranial vasospasms D020301||spasm cerebral artery D020301||spasm cerebrovascular D020301||spasm intracranial vascular D020301||spasms cerebral artery D020301||spasms cerebrovascular D020301||spasms intracranial vascular D020301||vascular spasm intracranial D020301||vascular spasms intracranial D020301||vasospasm cerebral D020301||vasospasms cerebral D020301||vasospasms intracranial C567517||sex reversal female with dysgenesis of kidneys adrenals and lungs D020300||intracranial hemorrhages D020300||brain hemorrhage D020300||brain hemorrhages D020300||hemorrhage brain D020300||hemorrhage intracranial D020300||hemorrhage posterior fossa D020300||hemorrhages brain D020300||hemorrhages intracranial D020300||hemorrhages posterior fossa D020300||intracranial hemorrhage D020300||posterior fossa hemorrhage D020300||posterior fossa hemorrhages C567519||tremor hereditary essential and idiopathic normal pressure hydrocephalus C567519||etinph D010996||pleural effusion D010996||effusion pleural D010996||effusions pleural D010996||pleural effusions C538351|609285||nemaline myopathy 4 C538351|609285||capm2 included C538351|609285||cap myopathy 2 included C538351|609285||cap myopathy tpm2 related C538351|609285||nem4 C538351|609285||nemaline myopathy caused by mutation in the tropomyosin 2 gene D010995||pleural diseases D010995||disease pleural D010995||diseases pleural D010995||pleural disease D010998||pleurisy D010998||pleurisies D010998||pleuritides D010998||pleuritis D010997||pleural neoplasms D010997||neoplasm pleural D010997||neoplasms pleural D010997||pleural neoplasm 609029|C535733||emanuel syndrome 609029|C535733|613700||22 syndrome 609029|C535733||der 22 syndrome due to 3 1 meiotic disjunction events 609029|C535733||supernumary der 22 syndrome 609029|C535733||supernumary der 22 t 11 22 syndrome 609029|C535733||supernumary derivative 22 chromosome syndrome 609029|C535733||supernumerary der 22 syndrome 609029|C535733||supernumerary der 22 t 11 609029|C535733||supernumerary der 22 t 11 22 syndrome 606612||muscular dystrophy dystroglycanopathy congenital with or without mental retardation type b 5 606612||mdc1c 606612||mddgb5 606612|C564691||muscular dystrophy congenital 1c 606612||muscular dystrophy congenital fkrp related C531598||familial acanthosis nigricans C562647|146300||hypophosphatasia adult C562647|146300||hypophosphatasia mild C562647|146300||hypophosphatasia mild odontohypophosphatasia included C531599||achondroplastic dwarfism 606613||high density lipoprotein cholesterol level quantitative trait locus 1 606613||hdlc1 606613||hdlcq1 D044342||malnutrition D044342||nutritional deficiencies D044342||nutritional deficiency D044342||undernutrition D044343||overnutrition D007319||sleep initiation and maintenance disorders D007319||awakening early D007319||chronic insomnia D007319||dims disorders of initiating and maintaining sleep D007319||disorders of initiating and maintaining sleep D007319||dysfunction sleep initiation D007319||dysfunctions sleep initiation D007319||early awakening D007319||insomnia D007319||insomnia chronic D007319||insomnia disorder D007319||insomnia disorders D007319||insomnia nonorganic D007319||insomnia primary D007319||insomnia psychophysiological D007319||insomnia rebound D007319||insomnias D007319||insomnia secondary D007319||insomnia transient D007319||nonorganic insomnia D007319||primary insomnia D007319||psychophysiological insomnia D007319||rebound insomnia D007319||secondary insomnia D007319||sleep initiation dysfunction D007319||sleep initiation dysfunctions D007319||sleeplessness D007319||transient insomnia D008649||mesonephroma D008649||mesonephromas D009976||orthomyxoviridae infections D009976||infection orthomyxoviridae D009976||infection orthomyxovirus D009976||infections orthomyxoviridae D009976||infections orthomyxovirus D009976||orthomyxoviridae infection D009976||orthomyxovirus infection D009976||orthomyxovirus infections D008644||mesial movement of teeth D008644||mesial drift of teeth D008644||mesial migration of teeth D008644||teeth mesial drift D008644||teeth mesial migration D008644||teeth mesial movement C563579|157170||holoprosencephaly 2 C563579|157170||hpe2 253601|C535899||limb girdle muscular dystrophy type 2b 253601|C535899||lgmd2b 253601|C535899||lgmd3 253601|C535899||muscular dystrophy limb girdle type 2b 253601|C535899||muscular dystrophy limb girdle type 3 D015451|109543||leukemia lymphocytic chronic b cell D015451|109543||b cell chronic lymphocytic leukemia D015451|109543||b cell leukemia chronic D015451|109543||b cell leukemias chronic D015451|109543||b cell malignancy low grade D015451|109543||bcll D015451|109543||b lymphocytic leukemia chronic D015451|109543||b lymphocytic leukemias chronic D015451|109543||chronic b cell leukemia D015451|109543||chronic b cell leukemias D015451|109543||chronic b lymphocytic leukemia D015451|109543||chronic b lymphocytic leukemias D015451|109543||chronic lymphoblastic leukemia D015451|109543||chronic lymphoblastic leukemias D015451|109543||chronic lymphocytic leukemia D015451|109543||chronic lymphocytic leukemias D015451|109543||cll D015451|109543||cll lymphoplasmacytoid lymphoma D015451|109543||cll lymphoplasmacytoid lymphomas D015451|109543||clls1 D015451|109543||clls2 D015451|109543||clls3 D015451|109543||clls4 D015451|109543||clls5 D015451|109543||dbm D015451|109543||diffuse well differentiated lymphocytic lymphoma D015451|109543||disrupted in b cell malignancy D015451|109543||leukemia b cell chronic D015451|109543||leukemia chronic b cell D015451|109543||leukemia chronic b lymphocytic D015451|109543||leukemia chronic lymphatic D015451|109543||leukemia chronic lymphocytic D015451|109543||leukemia chronic lymphocytic b cell D015451|109543||leukemia chronic lymphocytic susceptibility to 1 D015451|109543||leukemia chronic lymphocytic susceptibility to 2 D015451|109543||leukemia chronic lymphocytic susceptibility to 3 D015451|109543||leukemia chronic lymphocytic susceptibility to 4 D015451|109543||leukemia chronic lymphocytic susceptibility to 5 D015451|109543||leukemia lymphoblastic chronic D015451|109543||leukemia lymphocytic chronic D015451|109543||leukemias chronic b cell D015451|109543||leukemias chronic b lymphocytic D015451|109543||leukemias chronic lymphoblastic D015451|109543||lymphoblastic leukemia chronic D015451|109543||lymphoblastic leukemias chronic D015451|109543||lymphocytic leukemia chronic D015451|109543||lymphocytic leukemia chronic b cell D015451|109543||lymphocytic leukemias chronic D015451|109543||lymphocytic lymphoma D015451|109543||lymphocytic lymphoma diffuse well differentiated D015451|109543||lymphocytic lymphomas D015451|109543||lymphocytic lymphoma small D015451|109543||lymphocytic lymphomas small D015451|109543||lymphocytic lymphomas well differentiated D015451|109543||lymphocytic lymphoma well differentiated D015451|109543||lymphoma cll lymphoplasmacytoid D015451|109543||lymphoma lymphocytic D015451|109543||lymphoma lymphocytic diffuse well differentiated D015451|109543||lymphoma lymphocytic well differentiated D015451|109543||lymphoma lymphoplasmacytoid cll D015451|109543||lymphomas cll lymphoplasmacytoid D015451|109543||lymphomas lymphocytic D015451|109543||lymphoma small cell D015451|109543||lymphoma small lymphocytic D015451|109543||lymphoma small lymphocytic plasmacytoid D015451|109543||lymphomas small cell D015451|109543||lymphomas small lymphocytic D015451|109543||lymphomas well differentiated lymphocytic D015451|109543||lymphoma well differentiated lymphocytic D015451|109543||lymphoplasmacytoid lymphoma cll D015451|109543||lymphoplasmacytoid lymphomas cll D015451|109543||small cell lymphoma D015451|109543||small cell lymphomas D015451|109543||small lymphocytic lymphoma D015451|109543||small lymphocytic lymphomas D015451|109543||well differentiated lymphocytic lymphoma D015451|109543||well differentiated lymphocytic lymphomas C537923|300321||opitz kaveggia syndrome C537923|300321||fgs C537923|300321||fgs1 C537923|300321||fgs2 C537923|300321||fgs3 C537923|300321||fgs4 C537923|300321||fg syndrome C537923|300321||fg syndrome 1 C537923|300321||fg syndrome 2 C537923|300321||fg syndrome 3 C537923|300321||fg syndrome 4 C537923|300321||keller syndrome C537923|300321||mental retardation large head imperforate anus congenital hypotonia and partial agenesis of corpus callosum C537923|300321||mental retardation large head imperforate anus congenital hypotonia and partial agenesis of the corpus callosum C537923|300321||mental retardation x linked cask related C537923|300321||mental retardation x linked with nystagmus C537923|300321||mental retardation x linked with or without nystagmus included C537923|300321||oks C567067|300653||phosphoglycerate kinase 1 deficiency C567067|300653||pgk1 deficiency C567067|300653||pgk deficiency C567067|300653||phosphoglycerate kinase deficiency C536789|603116||craniosynostosis anal anomalies and porokeratosis C536789|603116|208250|C537560||cap syndrome C536789|603116||cdags syndrome C564658|606787||peripheral arterial occlusive disease 1 C564658|606787||paod1 D019310||pseudolymphoma D019310||hyperplasia reactive lymphoid D019310||hyperplasias reactive lymphoid D019310||lymphocytoma D019310||lymphocytomas D019310||lymphoid hyperplasia reactive D019310||lymphoid hyperplasias reactive D019310||pseudolymphomas D019310||reactive lymphoid hyperplasia D019310||reactive lymphoid hyperplasias C566487|610006||2 methylbutyryl coa dehydrogenase deficiency C566487|610006||2 mbcd deficiency C566487|610006||2 methylbutyryl coenzyme a dehydrogenase deficiency C566487|610006||2 methylbutyryl glycinuria C566487|610006||sbcadd C566487|610006||short branched chain acyl coa dehydrogenase deficiency D008659||metabolic diseases D008659||disease metabolic D008659||diseases metabolic D008659||metabolic disease D008659||thesaurismoses D008659||thesaurismosis D008654||mesothelioma D008654||mesotheliomas D007331||insulin coma D007331||coma insulin D007331||insulin shock D007331||shock insulin D008661||metabolism inborn errors D008661||error inborn metabolism D008661||errors inborn metabolism D008661||errors metabolism inborn D008661||errors metabolisms inborn D008661||inborn errors metabolism D008661||inborn errors metabolisms D008661||inborn errors of metabolism D008661||inborn metabolism error D008661||inborn metabolism errors D008661||metabolism error inborn D008661||metabolism errors inborn D008661||metabolism inborn error D008661||metabolisms inborn errors 150800||hlrcc 150800||lrcc 150800||mcl 150800||mcul1 150800||multiple cutaneous and uterine leiomyomata 1 with or without renal cell carcinoma D055008||anthracosis D055008||anthracoses D055008||black lung D055008||black lung disease D055008||black lung diseases D055008||black lungs D055008||coal miner lung D055008||coal miner apos s lung D055008||coal miners lung D055008||coal miner apos s lungs D055008||coalworker pneumoconiosis D055008||coal worker pneumoconiosis D055008||coalworker apos s pneumoconioses D055008||coal worker apos s pneumoconioses D055008||coalworker apos s pneumoconiosis D055008||coalworkers pneumoconiosis D055008||coal worker apos s pneumoconiosis D055008||coal workers pneumoconiosis D055008||lung black D055008||lungs black D055008||miner apos s lung coal D055008||miner apos s lungs coal D055008||pneumoconioses coalworker apos s D055008||pneumoconioses coal worker apos s D055008||pneumoconiosis coal worker D055008||pneumoconiosis coalworker apos s D055008||pneumoconiosis coal workers D055008||pneumoconiosis coal worker apos s D005878|143500||gilbert disease D005878|143500||arias type hyperbilirubinemia D005878|143500||arias type hyperbilirubinemias D005878|143500||constitutional liver dysfunction D005878|143500||disease gilbert D005878|143500||disease gilbert apos s D005878|143500||familial nonhemolytic jaundice D005878|143500||gilbert lereboullet syndrome D005878|143500||gilbert apos s disease D005878|143500||gilberts disease D005878|143500||gilbert apos s syndrome D005878|143500||gilberts syndrome D005878|143500||gilbert syndrome D005878|143500||hblrg D005878|143500||hyperbilirubinemia 1 D005878|143500||hyperbilirubinemia 1s D005878|143500||hyperbilirubinemia arias type D005878|143500||hyperbilirubinemia gilbert type D005878|143500||hyperbilirubinemia i D005878|143500||hyperbilirubinemias arias type D005878|143500||meulengracht syndrome D005878|143500||syndrome gilbert D005878|143500||syndrome gilbert apos s D005878|143500||unconjugated benign bilirubinemia D055009||spondylosis D055009||cervical spondylosis D055009||lumbarsacral spondylosis D055009||spondylosis cervical D055009||spondylosis deformans D055009||spondylosis lumbarsacral D055009||spondylosis thoracic D055009||thoracic spondylosis 608446|D009203||myocardial infarction 608446|D009203||infarction myocardial 608446|D009203||infarctions myocardial 608446|D009203||infarct myocardial 608446|D009203||infarcts myocardial 608446|D009203||mci1 included 608446|D009203||mci2 608446|D009203||myocardial infarct 608446|D009203||myocardial infarction protection against included 608446|D009203||myocardial infarctions 608446|D009203||myocardial infarction susceptibility to 608446|D009203||myocardial infarction susceptibility to 1 included 608446|D009203||myocardial infarction susceptibility to 2 608446|D009203||myocardial infarcts D057667||conducted energy weapon injuries D057667||injuries stun gun D057667||injuries taser D057667||injury stun gun D057667||injury taser D057667||stun gun injuries D057667||stun gun injury D057667||taser injuries D057667||taser injury C565201|610321||prostate cancer hereditary 7 C565201|610321||hpc7 C565201|610321||prostate cancer aggressiveness C537998|224410||dyssegmental dysplasia C537998|224410||anisospondylic camptomicromelic dwarfism C537998|224410||anisospondylic camptomicromelic dwarfism silverman handmaker type C537998|224410||ddsh C537998|224410||dyssegmental dwarfism C537998|224410||dyssegmental dwarfism silverman handmaker type C537998|224410||dyssegmental dysplasia silverman handmaker type D009959||oropharyngeal neoplasms D009959||cancer of oropharnyx D009959||cancer of the oropharynx D009959||cancer oropharyngeal D009959||cancer oropharynx D009959||cancers oropharyngeal D009959||cancers oropharynx D009959||neoplasm oropharyngeal D009959||neoplasm oropharynx D009959||neoplasms oropharyngeal D009959||neoplasms oropharynx D009959||oropharnyx cancer D009959||oropharnyx cancers D009959||oropharyngeal cancer D009959||oropharyngeal cancers D009959||oropharyngeal neoplasm D009959||oropharynx cancer D009959||oropharynx cancers D009959||oropharynx neoplasm D009959||oropharynx neoplasms C537312|608029||spinocerebellar ataxia autosomal recessive 6 C537312|608029||cerebellar ataxia infantile nonprogressive autosomal recessive C537312|608029||norwegian infantile onset ataxia C537312|608029||scar6 D009958||orofaciodigital syndromes D009958||dysplasia linguofacialis D009958||gorlin psaume syndrome D009958||mohr syndrome D009958||oral facial digital syndrome D009958||oral facial digital syndrome type ii D009958||orodigitofacial dysostosis D009958||orodigitofacial syndrome D009958||orofaciodigital syndrome D009958||oro facio digital syndrome D009958||orofaciodigital syndrome ii D009958||orofaciodigital syndrome iis D009958||orofaciodigital syndrome is D009958||syndrome gorlin psaume D009958||syndrome mohr D009958||syndrome orofaciodigital D009958||syndromes orofaciodigital D009957||oroantral fistula D009957||fistula oroantral D009957||fistulas oroantral D009957||oroantral fistulas D009956||psittacosis D009956||ornithoses D009956||ornithosis D009956||psittacoses C535956|131750||epidermolysis bullosa dystrophica pasini type C535956|131750||albopapuloid dominant dystrophic eb C535956|131750||albopapuloid dominant dystrophic epidermolysis bullosa ebdd epidermolysis bullosa dystrophica with subcorneal cleavage included C535956|131750||ddeb C535956|131750||dystrophic epidermolysis bullosa autosomal dominant C535956|131750||ebdct C535956|131750||ebdsc included C535956|131750||epidermolysis bullosa dystrophica autosomal dominant C535956|131750|226600|D016108||epidermolysis bullosa dystrophica cockayne touraine type D008630||mercury poisoning D008630||mercury poisonings D008630||poisoning mercury D008630||poisonings mercury D055013||osteoarthritis spine D055013||lumbar osteoarthritis D055013||osteoarthritis lumbar D055013||osteoarthritis spinal D055013||spinal osteoarthritis D055013||spine osteoarthritis 150270|C562861||laryngeal adductor paralysis 150270|C562861||lap 150270|C562861||vocal cord dysfunction adductor type D055010||posterior cervical sympathetic syndrome D055010||barre lieou syndrome D055010||syndrome barre lieou D055010||syndrome of barre lieou C563983|600165||nanophthalmos 1 C563983|600165||microphthalmos simple autosomal dominant C563983|600165||nanophthalmia 1 C563983|600165||nanophthalmos autosomal dominant C563983|600165||nanophthalmos with high hyperopia and angle closure glaucoma C563983|600165||nno1 C538068|229800||fructosuria C538068|229800||essential benign fructosuria C538068|229800||fructosuria essential C538068|229800||hepatic fructokinase deficiency C538068|229800||ketohexokinase deficiency D008639||mesenteric cyst D008639||cyst mesenteric D008639||cysts mesenteric D008639||mesenteric cysts D012174|268000||retinitis pigmentosa D012174|268000||cone rod degeneration D012174|268000||cone rod degenerations D012174|268000||cone rod dystrophies D012174|268000||cone rod dystrophies retinal D012174|268000|120970||cone rod dystrophy D012174|268000|120970||cone rod dystrophy 2 D012174|268000||cone rod dystrophy retinal D012174|268000||cone rod retinal dystrophies D012174|268000|120970||cone rod retinal dystrophy D012174|268000||degeneration cone rod D012174|268000||degenerations cone rod D012174|268000||degenerations tapetoretinal D012174|268000||degeneration tapetoretinal D012174|268000||dystrophies cone rod D012174|268000||dystrophies cone rod retinal D012174|268000||dystrophies retinal cone rod D012174|268000||dystrophies rod cone D012174|268000||dystrophy cone rod D012174|268000||dystrophy cone rod retinal D012174|268000||dystrophy retinal cone rod D012174|268000||dystrophy rod cone D012174|268000||pigmentary retinopathies D012174|268000||pigmentary retinopathy D012174|268000||retinal cone rod dystrophies D012174|268000|120970||retinal cone rod dystrophy D012174|268000||retinal dystrophies cone rod D012174|268000||retinal dystrophy cone rod D012174|268000||retinitis pigmentosa 22 D012174|268000||retinitis pigmentosa 23 D012174|268000||retinitis pigmentosa 24 D012174|268000||retinitis pigmentosa 28 D012174|268000||retinopathies pigmentary D012174|268000||retinopathy pigmentary D012174|268000||rod cone dystrophies D012174|268000||rod cone dystrophy D012174|268000||rp D012174|268000||rp22 D012174|268000||rp23 D012174|268000||rp24 D012174|268000||rp28 D012174|268000||tapetoretinal degeneration D012174|268000||tapetoretinal degenerations D008637||mesenchymoma D008637||mesenchymomas C536028|212720||martsolf syndrome C536028|212720||cataract mental retardation hypogonadism D008641||mesenteric vascular occlusion D008641||mesenteric vascular occlusions D008641||occlusion mesenteric vascular D008641||occlusions mesenteric vascular D008641||vascular occlusion mesenteric D008641||vascular occlusions mesenteric 133020|D004916||erythromelalgia 133020|D004916||erythermalgia 133020|D004916||erythermalgia primary 133020|D004916||erythermalgias 133020|D004916||erythermalgias primary 133020|D004916||erythromelalgia familial 133020|D004916||erythromelalgia familial neuropathy small fiber included 133020|D004916||erythromelalgia primary 133020|D004916||erythromelalgias 133020|D004916||familial erythromelalgia 133020|D004916||primary erythermalgia 133020|D004916||primary erythermalgias 133020|D004916||primary erythromelalgia 133020|D004916||sfnp included 133020|D004916||small fiber neuropathy 133020|D004916||small nerve fiber neuropathy D008640||mesenteric lymphadenitis D008640||lymphadenitides mesenteric D008640||lymphadenitis mesenteric D008640||mesenteric lymphadenitides D010954||plasmacytoma D010954||plasma cell tumor D010954||plasma cell tumors D010954||plasmacytomas D010954||plasmocytoma D010954||plasmocytomas D010954||tumor plasma cell D010954||tumors plasma cell 217400|C535473||corneal dystrophy and perceptive deafness 217400|C535473||cdpd 217400|C535473||cdpd1 217400|C535473||congenital corneal dystrophy progressive sensorineural deafness 217400|C535473||corneal dystrophy and sensorineural deafness 217400|C535473||harboyan syndrome C567437|612015||congenital disorder of glycosylation type in C567437|612015||cdg1n C567437|612015||cdgin C567437|612015||cdg in D008607||intellectual disability D008607||deficiencies mental D008607||deficiency mental D008607||disabilities intellectual D008607||disability intellectual D008607||idiocy D008607||intellectual disabilities D008607||mental deficiencies D008607||mental deficiency D008607||mental retardation D008607||mental retardation psychosocial D008607||mental retardations psychosocial D008607||psychosocial mental retardation D008607||psychosocial mental retardations D008607||retardation mental D008607||retardation psychosocial mental D008607||retardations psychosocial mental C563958|600320||diabetes mellitus insulin dependent 5 C563958|600320||iddm5 C563958|600320||insulin dependent diabetes mellitus 5 D010927||placental insufficiency D010927||insufficiency placental 176807|D011471||prostatic neoplasms 176807|D011471||cancer of prostate 176807|D011471||cancer of the prostate 176807|D011471||cancer prostate 176807|D011471||cancer prostatic 176807|D011471||cancers prostate 176807|D011471||cancers prostatic 176807|D011471||hpcqtl19 176807|D011471||neoplasm prostate 176807|D011471||neoplasm prostatic 176807|D011471||neoplasms prostate 176807|D011471||neoplasms prostatic 176807|D011471||prostate cancer 176807|D011471||prostate cancer aggressiveness quantitative trait locus on chromosome 19 176807|D011471||prostate cancers 176807|D011471||prostate neoplasm 176807|D011471||prostate neoplasms 176807|D011471||prostatic cancer 176807|D011471||prostatic cancers 176807|D011471||prostatic neoplasm 200150|D054546||neuroacanthocytosis 200150|D054546||acanthocytoses chorea 200150|D054546||acanthocytosis chorea 200150|D054546||acanthocytosis with neurologic disorder 200150|D054546||chac 200150|D054546||chorea acanthocytoses 200150|D054546||chorea acanthocytosis 200150|D054546||chorea acanthocytosis syndrome 200150|D054546||chorea acanthocytosis syndromes 200150|D054546||choreoacanthocytoses 200150|D054546||choreoacanthocytosis 200150|D054546||levine critchley syndrome C567502|611890||lethal arthrogryposis with anterior horn cell disease C567502|611890||laahd D056364||colloid cysts D056364||colloid cyst D056364||cyst colloid D056364||cysts colloid D055034||osteochondrosis D055034||koehler disease D055034||koehler apos s disease D055034||koehlers disease D055034||navicular osteochondroses D055034||navicular osteochondrosis D055034||osgood schlatter disease D055034||osteochondroses D055034||osteochondroses navicular D055034||osteochondrosis navicular D055035||osteochondroses spinal D055035||osteochondrosis of spine D055035||osteochondrosis spinal D055035||spinal osteochondroses D055035||spine osteochondroses D055035||spine osteochondrosis D010921||placenta accreta D010921||accreta placenta D010921||increta placenta D010921||percreta placenta D010921||placenta increta D010921||placenta percreta D010923||placenta previa D010923||placenta praevia D055031||primary graft dysfunction D055031||dysfunction primary graft D055031||graft dysfunction primary D010922||placenta diseases D010922||disease placenta D010922||disease placental D010922||diseases placenta D010922||diseases placental D010922||disorder placenta D010922||disorders placenta D010922||placenta disease D010922||placenta disorder D010922||placenta disorders D010922||placental disease D010922||placental diseases C567643|613325||rhabdoid tumor predisposition syndrome 2 C567643|613325||rtps2 C567450|611953||macular degeneration age related 11 C567450|611953||armd11 270450|C564816||insulin like growth factor i resistance to 270450|C564816||igf i resistance 270450|C564816||igf i resistance insulin like growth factor i resistance to due to increased binding protein included 270450|C564816||somatomedin c resistance to 270450|C564816||somatomedin end organ insensitivity to 606799|D020521||stroke 606799|D020521||acute cerebrovascular accident 606799|D020521||acute cerebrovascular accidents 606799|D020521||acute stroke 606799|D020521||acute strokes 606799|D020521||apoplexy 606799|D020521||apoplexy cerebrovascular 606799|D020521||brain vascular accident 606799|D020521||brain vascular accidents 606799|D020521||cerebral stroke 606799|D020521||cerebral strokes 606799|D020521||cerebrovascular accident acute 606799|D020521||cerebrovascular accidents 606799|D020521||cerebrovascular accidents acute 606799|D020521||cerebrovascular apoplexy 606799|D020521||cerebrovascular stroke 606799|D020521||cerebrovascular strokes 606799|D020521||cva cerebrovascular accident 606799|D020521||cvas cerebrovascular accident 606799|D020521||strk1 606799|D020521||stroke acute 606799|D020521||stroke cerebral 606799|D020521||stroke cerebrovascular 606799|D020521||strokes 606799|D020521||strokes acute 606799|D020521||strokes cerebral 606799|D020521||strokes cerebrovascular 606799|D020521||stroke susceptibility to 1 606799|D020521||vascular accident brain 606799|D020521||vascular accidents brain D010939||plant poisoning D010939||plant poisonings D010939||poisoning plant D010939||poisonings plant C566970|611291||severe combined immunodeficiency with microcephaly growth retardation and sensitivity to ionizing radiation C566970|611291||nhej1 syndrome C566970|611291||nhej1 syndrome severe combined immunodeficiency with sensitivity to ionizing radiation due to nhej1 deficiency included C566970|611291||scid autosomal recessive t cell negative b cell negative nk cell positive and sensitivity to ionizing radiation due to nhej1 deficiency C566970|611291||scid autosomal recessive t cell negative b cell negative nk cell positive and sensitivity to ionizing radiation due to nhej1 deficiency included C566970|611291||scid autosomal recessive t cell negative b cell negative nk cell positive with microcephaly growth retardation and sensitivity to ionizing radiation C566970|611291||severe combined immunodeficiency with sensitivity to ionizing radiation due to nhej1 deficiency D010930||plague D010930||black death D010930||black deaths D010930||black plague D010930||black plagues D010930||bubonic plague D010930||death black D010930||deaths black D010930||meningeal plague D010930||meningeal plagues D010930||plague black D010930||plague bubonic D010930||plague meningeal D010930||plague pneumonic D010930||plague pulmonic D010930||plagues black D010930||plague septicemic D010930||plagues meningeal D010930||plagues pneumonic D010930||plagues pulmonic D010930||plagues septicemic D010930||pneumonic plague D010930||pneumonic plagues D010930||pulmonic plague D010930||pulmonic plagues D010930||septicemic plague D010930||septicemic plagues D009771|164230||obsessive compulsive disorder D009771|164230||anankastic personalities D009771|164230||anankastic personality D009771|164230||disorder obsessive compulsive D009771|164230||disorders obsessive compulsive D009771|164230||neuroses obsessive compulsive D009771|164230||neurosis obsessive compulsive D009771|164230||obsessive compulsive disorders D009771|164230||obsessive compulsive neuroses D009771|164230||obsessive compulsive neurosis D009771|164230||ocd D009771|164230||personalities anankastic D009771|164230||personality anankastic D013180||sprains and strains D013180||sprain D013180||sprains D013180||strain D013180||strains D013180||strains and sprains D009918||orbital neoplasms D009918||neoplasm orbital D009918||neoplasms orbital D009918||orbital neoplasm D009917||orbital fractures D009917||blow out fracture D009917||blow out fractures D009917||fracture blow out D009917||fracture orbital D009917||fractures blow out D009917||fractures orbital D009917||orbital fracture D009916||orbital diseases D009916||disease orbital D009916||diseases orbital D009916||orbital disease D013182||sprue tropical D013182||idiopathic tropical malabsorption syndrome D013182||tropical sprue D001198||ascaridiasis D001198||ascaridiases D009914||oral submucous fibrosis D009914||fibroses oral submucous D009914||fibrosis oral submucous D009914||oral submucous fibroses D009914||submucous fibroses oral D009914||submucous fibrosis oral D001196||ascariasis D001196||ascariases D009912||oral manifestations D009912||manifestation oral D009912||manifestations oral D009912||oral manifestation C536450|310490||cowchock syndrome C536450|310490||charcot marie tooth disease with deafness and mental retardation C536450|310490||charcot marie tooth disease x linked recessive 4 C536450|310490||cmtx4 C536450|310490||cowck C536450|310490||nadmr C536450|310490||namsd C536450|310490||neuropathy axonal motor sensory with deafness and mental retardation D001195||asbestosis D001195||asbestoses D001195||idiopathic interstitial pneumonitis from asbestos exposure D001195||pulmonary fibrosis from asbestos exposure C538388|307150||hypertrichosis congenital generalized x linked C538388|307150||cgh C538388|307150||chromosome xq27 1 interchromosomal insertion syndrome C538388|307150||hcg C538388|307150||htc2 C538388|307150||hypertrichosis congenital generalized C538388|307150||macias flores garcia cruz rivera syndrome C536065|311300||oto palato digital syndrome type 1 C536065|311300||frontootopalatodigital osteodysplasia included C536065|311300||opd1 C536065|311300||opd i syndrome C536065|311300||opd syndrome 1 otopalatodigital spectrum disorder included C536065|311300||opd syndrome type 1 C536065|311300||otopalatodigital syndrome type 1 C536065|311300||otopalatodigital syndrome type i C536065|311300||taybi syndrome D006958|114000||hyperostosis cortical congenital D006958|114000||caffey de toni silvermann syndrome D006958|114000||caffey disease D006958|114000||caffey apos s disease familial D006958|114000||congenital cortical hyperostoses D006958|114000||congenital cortical hyperostosis D006958|114000||congenital hyperostoses cortical D006958|114000||congenital hyperostosis cortical D006958|114000||cortical congenital hyperostoses D006958|114000||cortical congenital hyperostosis D006958|114000||cortical hyperostoses congenital D006958|114000||cortical hyperostoses infantile D006958|114000||cortical hyperostosis congenital D006958|114000||cortical hyperostosis infantile D006958|114000||disease caffey D006958|114000||disease familial caffey apos s D006958|114000||familial caffey disease D006958|114000||familial caffey apos s disease D006958|114000||familial caffeys disease D006958|114000||familial infantile cortical hyperostosis D006958|114000||hyperostoses congenital cortical D006958|114000||hyperostoses cortical congenital D006958|114000||hyperostoses infantile cortical D006958|114000||hyperostosis congenital cortical D006958|114000||hyperostosis infantile cortical D006958|114000||infantile cortical hyperostoses D006958|114000||infantile cortical hyperostosis D006958|114000||infantile cortical hyperostosis prenatal cortical hyperostosis lethal included D006958|114000||syndrome caffey de toni silvermann 605376||heterotaxy visceral 2 autosomal 605376||htx 605376||htx2 D010900||pituitary diseases D010900||adenohypophyseal disease D010900||adenohypophyseal diseases D010900||anterior pituitary disease D010900||anterior pituitary diseases D010900||disease adenohypophyseal D010900||disease anterior pituitary D010900||disease neurohypophyseal D010900||disease pituitary D010900||disease pituitary gland D010900||disease posterior pituitary D010900||diseases adenohypophyseal D010900||diseases anterior pituitary D010900||diseases neurohypophyseal D010900||diseases pituitary D010900||diseases pituitary gland D010900||diseases posterior pituitary D010900||disorder hypophyseal D010900||disorder pituitary D010900||disorders hypophyseal D010900||disorders pituitary D010900||hypophyseal disorder D010900||hypophyseal disorders D010900||neurohypophyseal disease D010900||neurohypophyseal diseases D010900||pituitary disease D010900||pituitary disease anterior D010900||pituitary disease posterior D010900||pituitary diseases anterior D010900||pituitary diseases posterior D010900||pituitary disorder D010900||pituitary disorders D010900||pituitary gland disease D010900||pituitary gland diseases D010900||posterior pituitary disease D010900||posterior pituitary diseases C538613|312000||panhypopituitarism x linked C538613|312000||phpx C538613|312000||pituitary dwarfism iv formerly C564515|300433||mental retardation x linked 81 C564515|300433||mrx81 D013174||sporotrichosis D013174||sporotrichoses C566576|602099||amyotrophic lateral sclerosis 5 C566576|602099||als5 C566551|602429||glaucoma 1 open angle d C566551|602429|C566383|603383||glaucoma primary open angle adult onset C566551|602429||glc1d D010916||pityriasis rubra pilaris D010915||pityriasis D010915||pityriases D009920||orchitis D009920||orchitides 202300|C565972||adrenocortical carcinoma hereditary 202300|C565972||adcc 202300|C565972||adrenocortical carcinoma pediatric included C562865|612356||heparin cofactor ii deficiency C562865|612356||hcf2 deficiency C562865|612356||hcf ii deficiency C562865|612356||thph10 C562865|612356||thrombophilia due to heparin cofactor ii deficiency C562865|612356||thrombophilia susceptibility to due to heparin cofactor ii deficiency C567410|600625||orofacial cleft 11 C567410|600625||chcl included C567410|600625||cleft lip with or without cleft palate nonsyndromic 11 C567410|600625||cleft lip with or without cleft palate nonsyndromic 11 cleft lip congenital healed included C567410|600625||congenital healed cleft lip included C567410|600625||ofc11 D010911||pituitary neoplasms D010911||adenoma pituitary D010911||adenomas pituitary D010911||cancer of pituitary D010911||cancer of the pituitary D010911||cancer pituitary D010911||cancers pituitary D010911||carcinoma pituitary D010911||carcinomas pituitary D010911||neoplasm pituitary D010911||neoplasms pituitary D010911||pituitary adenoma D010911||pituitary adenomas D010911||pituitary cancer D010911||pituitary cancers D010911||pituitary carcinoma D010911||pituitary carcinomas D010911||pituitary neoplasm D010911||pituitary tumor D010911||pituitary tumors D010911||tumor pituitary D010911||tumors pituitary C536384||faces syndrome C562672||hyperglycinemia transient neonatal C536385||facial ectodermal dysplasia C536385||bitemporal forceps marks syndrome C536385||focal facial dermal dysplasia type 2 C536385||focal facial dermal dysplasia type ii C536385||setleis syndrome D052801||male urogenital diseases D052801||genitourinary disease male D052801||genitourinary diseases male D052801||male genitourinary disease D052801||male genitourinary diseases D052801||male urogenital disease D052801||urogenital disease male D052801||urogenital diseases male C562670||glucoglycinuria C536383||eyebrows duplication of with stretchable skin and syndactyly C536388||faciocardiorenal syndrome C536388||eastman bixler syndrome D013161||splenic rupture D013161||rupture splenic D013161||ruptures splenic D013161||splenic ruptures C536389||faciomandibular myoclonus nocturnal C536389||nocturnal facio mandibular myoclonus C562674||hyperleucine isoleucinemia C536387||facio thoraco genital syndrome C536387||congenital anomalies involving mainly the face thorax and genitalia C536387||faciothoracogenital syndrome D013160||splenic neoplasms D013160||cancer of spleen D013160||cancer of the spleen D013160||cancer spleen D013160||cancer splenic D013160||cancers spleen D013160||cancers splenic D013160||neoplasm spleen D013160||neoplasm splenic D013160||neoplasms spleen D013160||neoplasms splenic D013160||spleen cancer D013160||spleen cancers D013160||spleen neoplasm D013160||spleen neoplasms D013160||splenic cancer D013160||splenic cancers D013160||splenic neoplasm D001176||arthrogryposis D001176||amyoplasia congenita D001176||arthrogryposes D001176||arthrogryposes congenital multiple D001176||arthrogryposis congenital multiple D001176||arthrogryposis multiplex congenita D001176||arthrogryposis multiplex congenita amc D001176||arthrogryposis multiplex congenitas D001176||arthrogryposis multiplex congenitas amc D001176||arthromyodysplasia congenital D001176||arthromyodysplasias congenital D001176||congenita arthrogryposis multiplex D001176||congenita arthrogryposis multiplex amc D001176||congenital arthromyodysplasia D001176||congenital arthromyodysplasias D001176||congenital multiple arthrogryposes D001176||congenital multiple arthrogryposis D001176||congenitas arthrogryposis multiplex D001176||congenitas arthrogryposis multiplex amc D001176||fibrous ankylosis of multiple joints D001176||guerin stern syndrome D001176||gu 233 rin stern syndrome D001176||multiple arthrogryposes congenital D001176||multiple arthrogryposis congenital D001176||multiplex congenita arthrogryposis D001176||multiplex congenita arthrogryposis amc D001176||multiplex congenitas arthrogryposis D001176||multiplex congenitas arthrogryposis amc D001176||myodystrophia fetalis deformans D001176||otto syndrome D001176||rocher sheldon syndrome D001176||rossi syndrome D001176||syndrome guerin stern D001176||syndrome gu 233 rin stern D001176||syndrome otto D001176||syndrome rocher sheldon D001176||syndrome rossi C562678||acetyl coa carboxylase deficiency C562678||acaca deficiency D013009|613938||somnambulism D013009|613938||nocturnal wandering D013009|613938||parasomnia sleep terrors type included D013009|613938||parasomnia sleepwalking type D013009|613938||psmnst included D013009|613938||psmnsw D013009|613938||sleepwalking D013009|613938||sleep walking D013009|613938||sleep walking disorder D013009|613938||sleep walking disorders D013009|613938||wandering nocturnal C536380||evan apos s syndrome C536380||autoimmune hemolytic anemia and autoimmune thrombocytopenia C536380||evan syndrome D012507|181000||sarcoidosis D012507|181000||besnier boeck disease D012507|181000||besnier boeck schaumann syndrome D012507|181000||boeck disease D012507|181000||boeck sarcoid D012507|181000||boeck apos s disease D012507|181000||boecks disease D012507|181000||boeck apos s sarcoid D012507|181000||boecks sarcoid D012507|181000||disease schaumann D012507|181000||sarcoid boeck apos s D012507|181000||sarcoidoses D012507|181000||sarcoidosis susceptibility to 1 D012507|181000||sarcoidosis susceptibility to 2 D012507|181000||sarcoidosis susceptibility to 3 D012507|181000||schaumann disease D012507|181000||schaumann apos s syndrome D012507|181000||schaumann apos s syndromes D012507|181000||schaumann syndrome D012507|181000||ss1 D012507|181000||ss2 D012507|181000||ss3 D012507|181000||syndrome besnier boeck schaumann D012507|181000||syndrome schaumann D012507|181000||syndrome schaumann apos s D001177||arthropathy neurogenic D001177||arthropathies neurogenic D001177||charcot joint D001177||charcot apos s joint D001177||charcots joint D001177||joint charcot apos s D001177||neurogenic arthropathies D001177||neurogenic arthropathy D001183||arthus reaction D001183||arthus phenomenon D001183||phenomenon arthus D001183||reaction arthus C536352|193220||vitreoretinochoroidopathy C536352|193220||advirc C536352|193220||autosomal dominant vitreoretinochoroidopathy C536352|193220||microcornea rod cone dystrophy cataract and posterior staphyloma C536352|193220||mrcs included C536352|193220||vitreoretinochoroidopathy autosomal dominant C536352|193220||vitreoretinochoroidopathy autosomal dominant with nanophthalmos C536352|193220||vitreoretinochoroidopathy autosomal dominant with nanophthalmos microcornea rod cone dystrophy cataract and posterior staphyloma included C536352|193220||vitreoretinochoroidopathy dominant C536352|193220||vitreoretinochoroidopathy with microcornea glaucoma and cataract C536352|193220||vrcp C567429|612069||amyotrophic lateral sclerosis 10 C567429|612069||amyotrophic lateral sclerosis 10 with or without frontotemporal dementia als10 frontotemporal lobar degeneration with tdp43 inclusions tardbp related C567429|612069||frontotemporal dementia with tdp43 inclusions tardbp related included C567429|612069||ftld tdp tardbp related included 606689||glaucoma 1 open angle b 606689||glc1b D018296|132600||pilomatrixoma D018296|132600||benign pilomatricoma D018296|132600||benign pilomatrixoma D018296|132600||calcifying epithelioma of malherbe D018296|132600||epithelioma calcificans of malherbe D018296|132600||malherbe calcifying epithelioma D018296|132600||pilomatricoma D018296|132600||pilomatricoma benign D018296|132600||pilomatrixoma benign D018296|132600||ptr C536379||anonychia onychodystrophy with brachydactyly type b and ectrodactyly C536379||kumar levick syndrome D013158||splenic diseases D013158||disease splenic D013158||diseases splenic D013158||splenic disease C535686|600332||rippling muscle disease 1 C535686|600332||rippling muscle disease C535686|600332||rippling muscle disease 2 C535686|600332||rippling muscle disease 2 included C535686|600332||rmd C535686|600332||rmd1 C535686|600332||rmd2 included D013159||splenic infarction D013159||infarction splenic D013159||infarctions splenic D013159||infarct of the spleen D013159||infarct splenic D013159||infarcts splenic D013159||splenic infarctions D013159||splenic infarcts C562682||methionine malabsorption syndrome C562682||oasthouse urine disease C562682||smith strang disease C536395||neonatal herpes C536395||neonatal herpes simplex virus infection C536396||neonatal ovarian cyst C536396||fetal ovarian cyst C536393||fairbank disease C536393||dysplasia epiphysealis multiplex C536393||epiphyseal dysplasia fairbank type C536393||epiphyseal dysplasia ribbing type C536393||fairbank multiple epiphyseal dysplasia C536399||nephroblastomatosis fetal ascites macrosomia and wilms tumor C536399||perlman syndrome C536399||renal hamartomas nephroblastomatosis and fetal gigantism 609026|C563812||cataract age related cortical 1 609026|C563812||arcc1 609026|C563812||cataract 28 609026|C563812||ctrct28 C562684||hyper beta alaninemia C562684||hyperalaninemia C536397||neonatal systemic lupus erythematosus C536397||neonatal lupus C536397||neonatal lupus syndrome D055091||bronchomalacia D055091||bronchi chondromalacia D055091||bronchi chondromalacias D055091||bronchomalacias D055091||chondromalacia of bronchi D009902||optic neuritis D009902||anterior optic neuritides D009902||anterior optic neuritis D009902||neuritides anterior optic D009902||neuritides optic D009902||neuritides posterior optic D009902||neuritides retrobulbar D009902||neuritis anterior optic D009902||neuritis optic D009902||neuritis posterior optic D009902||neuritis retrobulbar D009902||neuropapillitides D009902||neuropapillitis D009902||optic neuritides D009902||optic neuritides anterior D009902||optic neuritides posterior D009902||optic neuritis anterior D009902||optic neuritis posterior D009902||posterior optic neuritides D009902||posterior optic neuritis D009902||retrobulbar neuritides D009902||retrobulbar neuritis D055092||laryngomalacia D055092||chondromalacia of larynx D055092||laryngomalacias D055092||larynx chondromalacia D055092||larynx chondromalacias D009901||optic nerve diseases D009901||cranial nerve ii diseases D009901||cranial nerve ii disorder D009901||disk disorder optic D009901||disk disorders optic D009901||foster kennedy syndrome D009901||lesion neural optical D009901||lesions neural optical D009901||neural optical lesion D009901||neural optical lesions D009901||neuropathies optic D009901||neuropathy optic D009901||optic disk disorder D009901||optic disk disorders D009901||optic nerve disease D009901||optic neuropathies D009901||optic neuropathy D009901||second cranial nerve diseases D009901||syndrome foster kennedy D055093||periodontal atrophy D055093||atrophy of periodontium D055093||gingivo osseous atrophies D055093||gingivo osseous atrophy D055093||periodontal atrophies D055093||periodontium atrophies D055093||periodontium atrophy D001184||articulation disorders D001184||articulation disorder D001184||articulation disorder developmental D001184||articulation disorders developmental D001184||articulation disorder speech D001184||articulation disorders speech D001184||articulations unintelligible D001184||articulation unintelligible D001184||developmental articulation disorder D001184||developmental articulation disorders D001184||disarticulation disorder D001184||disarticulation disorders D001184||disorder disarticulation D001184||disorders disarticulation D001184||impairment phonological D001184||impairment phonology D001184||impairments phonological D001184||impairments phonology D001184||misarticulation D001184||phonological impairment D001184||phonological impairments D001184||phonology impairment D001184||phonology impairments D001184||speech articulation disorder D001184||speech articulation disorders D001184||unintelligible articulation D001184||unintelligible articulations C562689|277440|C562794||rickets hereditary vitamin d resistant C562689|277440|C562794||generalized resistance to 1 25 dihydroxyvitamin d C562689|277440|C562794||hypocalcemic vitamin d resistant rickets C562689|277440|C562794||vitamin d resistant rickets with end organ unresponsiveness to 1 25 dihydroxycholecalciferol C536392||factor 8 deficiency acquired C536392||factor viii deficiency acquired C536392||hemophilia a acquired D055090||tracheomalacia D055090||chondromalacia of trachea D055090||trachea chondromalacia D055090||trachea chondromalacias D055090||tracheomalacias D055089||tracheobronchomalacia D055089||chondromalacia of trachea and bronchi D055089||syndrome williams campbell D055089||tracheobronchomalacias D055089||williams campbell syndrome C565289|605809||myasthenia familial infantile 1 C565289|605809||cms1a1 C565289|605809||cms ia1 C565289|605809||congenital myasthenic syndrome type ia1 C565289|605809||fim1 607417|C564404||mental retardation autosomal recessive 2 607417|C564404||mental retardation autosomal recessive 2a 607417|C564404||mrt2 607417|C564404||mrt2a D013166||spondylitis D013166||spondylitides D014496||urachal cyst D014496||cysts umbilical D014496||cysts urachal D014496||cyst umbilical D014496||cyst urachal D014496||umbilical cyst D014496||umbilical cysts D014496||urachal cysts D013163||splenomegaly D013163||enlarged spleen D013163||spleen enlarged C537559|123150||jackson weiss syndrome C537559|123150||acrocephalosyndactyly jackson weiss type C537559|123150||craniosynostosis midfacial hypoplasia and foot abnormalities C537559|123150||enlarged great toes and craniofacial abnormalities C537559|123150||jws D013169||spondylolysis D013169||spondylolyses D013168||spondylolisthesis D013168||spondylistheses D013168||spondylisthesis D013168||spondylolistheses D001159||arterio arterial fistula D001159||arterio arterial fistulas D001159||fistula arterio arterial D001159||fistulas arterio arterial C562654||hypokalemia familial C562654||gullner syndrome C562654||hypokalemic alkalosis familial with specific renal tubulopathy C562651||ethanolaminosis C562651||ethanolamine kinase deficiency C563982||hyperparathyroidism primary caused by water clear cell hyperplasia D003103|120200||coloboma D003103|120200||coi D003103|120200||coloboma ocular D003103|120200||coloboma of iris choroid and retina D003103|120200||colobomas D003103|120200||coloboma uveoretinal D003103|120200||ocular coloboma D003103|120200||uveoretinal coloboma C562658||tryptophanuria with dwarfism 149200|C537210||knuckle pads leuconychia and sensorineural deafness 149200|C537210||bart pumphrey syndrome 149200|C537210||knuckle pads leukonychia and sensorineural deafness 149200|C537210||knuckle pads leukonychia deafness and keratosis palmoplantaris C559045||recurrent spontaneous hypothermia with hypoplasia of the corpus callosum D001157||arterial occlusive diseases D001157||arterial obstructive disease D001157||arterial obstructive diseases D001157||arterial occlusive disease D001157||disease arterial obstructive D001157||disease arterial occlusive D001157||diseases arterial obstructive D001157||diseases arterial occlusive D001157||obstructive disease arterial D001157||obstructive diseases arterial D001157||occlusive disease arterial D001157||occlusive diseases arterial C562659||tyrosinosis D002485||cementoma D002485||cementomas D001161||arteriosclerosis D001161||arterioscleroses C563730|609352||epidermolysis bullosa simplex with migratory circinate erythema 607921|C564310||retinitis pigmentosa 30 607921|C564310||macular degeneration included 607921|C564310||rp30 D013130||spinal stenosis D013130||spinal stenoses D013130||stenoses spinal D013130||stenosis spinal D015792||retinal dysplasia D015792||dysplasia retinal D015792||dysplasias retinal D015792||retinal dysplasias C563990||cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy C563990||carasil C563990||cerebrovascular disease with thin skin alopecia and disc disease C563990||familial young adult onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension C563990||maeda syndrome C563990||nemoto disease C563990||subcortical vascular encephalopathy progressive 612783|C557827||immune dysfunction with t cell inactivation due to calcium entry defect 2 612783|C557827||imd10 612783|C557827||immunodeficiency 10 612783|C557827||stim1 deficiency C563994||atrioventricular septal defect with blepharophimosis and anal and radial defects C562662||brown oculocutaneous albinism C562662||albinism brown oculocutaneous C562663||bads syndrome C562663||black locks with albinism and deafness syndrome D001165||arteriovenous malformations D001165||arteriovenous malformation D001165||malformation arteriovenous D001165||malformations arteriovenous C567847|612949||hypomyelination global cerebral C567847|612949||agc1 deficiency C567847|612949||aspartate glutamate carrier 1 deficiency D001164||arteriovenous fistula D001164||aneurysm arteriovenous D001164||arteriovenous aneurysm D001164||arteriovenous fistulas D001164||fistula arteriovenous D001164||fistulas arteriovenous C562669||hydroxyprolinemia C562669||4 hydroxy l proline oxidase deficiency D014890|608710||wegener granulomatosis D014890|608710||granulomatosis wegener D014890|608710||granulomatosis wegener apos s D014890|608710||granulomatosis with polyangitis D014890|608710||wegener apos s granulomatosis D014890|608710||wg C563997||dysphasia familial developmental D001162||arteriosclerosis obliterans D001162||obliterans arteriosclerosis C564538|300301||ectodermal dysplasia anhidrotic with immunodeficiency osteopetrosis and lymphedema C564538|300301||oledaid D001169||arthritis experimental D001169||adjuvant arthritis D001169||arthritides collagen D001169||arthritis adjuvant D001169||arthritis adjuvant induced D001169||arthritis collagen D001169||arthritis collagen induced D001169||collagen arthritides D001169||collagen arthritis D001169||collagen induced arthritides D001169||collagen induced arthritis D002493||central nervous system diseases D002493||central nervous system disorders D002493||cns disease D002493||cns diseases 176780|D056887||pelvic organ prolapse 176780|D056887||organ prolapse pelvic 176780|D056887||organ prolapses pelvic 176780|D056887||pelvic organ prolapses 176780|D056887||pelvic organ prolapse susceptibility to 176780|D056887||pelvic organ prolapse susceptibility to 2 176780|D056887||prolapse of vagina and rectum 176780|D056887||prolapse pelvic organ 176780|D056887||prolapses pelvic organ 176780|D056887||prolapses urogenital 176780|D056887||prolapses vaginal vault 176780|D056887||prolapse urogenital 176780|D056887||prolapse vaginal vault 176780|D056887||pvop1 included 176780|D056887||pvop2 176780|D056887|D012005||rectal prolapse 176780|D056887||urogenital prolapse 176780|D056887||urogenital prolapses 176780|D056887||vaginal prolapse pelvic organ prolapse susceptibility to 1 included 176780|D056887||vaginal vault prolapse 176780|D056887||vaginal vault prolapses 176780|D056887||vault prolapses vaginal 176780|D056887||vault prolapse vaginal D001168||arthritis D001168||arthritides D001168||polyarthritides D001168||polyarthritis D002494||central nervous system infections D002494||central nervous system infection D002494||infections central nervous system 275120||thyrotropin releasing hormone deficiency 275120||hypothalamic hypothyroidism 275120||trh deficiency D001167||arteritis D001167||arterial inflammation D001167||arteritides D001167||inflammation arterial C564727|300030||deafness x linked 3 C564727|300030||deafness x linked 4 congenital sensorineural C564727|300030||dfn4 C564727|300030||dfnx3 114580|C567779||candidiasis familial 1 114580|C567779||candf1 114580|C567779||candidiasis familial chronic mucocutaneous autosomal dominant with or without thyroid disease 114580|C567779||cmct D064807||anticholinergic syndrome D064807||anticholinergic syndrome central D064807||anticholinergic syndrome peripheral D064807||anticholinergic syndromes D064807||anticholinergic syndromes central D064807||anticholinergic syndromes peripheral D064807||central anticholinergic syndrome D064807||central anticholinergic syndromes D064807||peripheral anticholinergic syndrome D064807||peripheral anticholinergic syndromes D064807||syndrome anticholinergic D064807||syndrome central anticholinergic D064807||syndrome peripheral anticholinergic D064807||syndromes anticholinergic D064807||syndromes central anticholinergic D064807||syndromes peripheral anticholinergic D001171||arthritis juvenile D001171||arthritis juvenile chronic D001171||arthritis juvenile enthesitis related D001171||arthritis juvenile idiopathic D001171||arthritis juvenile psoriatic D001171||arthritis juvenile rheumatoid D001171||arthritis juvenile systemic D001171||chronic arthritis juvenile D001171||enthesitis related arthritis juvenile D001171||idiopathic arthritis juvenile D001171||juvenile arthritis D001171||juvenile chronic arthritis D001171||juvenile enthesitis related arthritis D001171||juvenile idiopathic arthritis D001171||juvenile oligoarthritis D001171||juvenile onset still disease D001171||juvenile onset stills disease D001171||juvenile onset still apos s disease D001171||juvenile psoriatic arthritis D001171||juvenile rheumatoid arthritis D001171||juvenile systemic arthritis D001171||oligoarthritis juvenile D001171||polyarthritis juvenile rheumatoid factor negative D001171||polyarthritis juvenile rheumatoid factor positive D001171||psoriatic arthritis juvenile D001171||rheumatoid arthritis juvenile D001171||still disease juvenile onset D001171||still apos s disease juvenile onset D001171||stills disease juvenile onset D001171||systemic arthritis juvenile D064806||dysbiosis D064806||disbacterioses D064806||disbacteriosis D064806||disbioses D064806||disbiosis D064806||dysbacterioses D064806||dysbacteriosis D064806||dysbioses D064806||dys symbioses D064806||dys symbiosis C566138|118210||charcot marie tooth disease axonal type 2a1 C566138|118210||charcot marie tooth disease axonal autosomal dominant type 2a1 C566138|118210||charcot marie tooth disease neuronal type 2a1 C566138|118210||charcot marie tooth neuropathy type 2a1 C566138|118210||cmt2a1 C566138|118210||hereditary motor and sensory neuropathy iia1 C566138|118210||hmsn2a1 C566138|118210||hmsn iia1 D001170||arthritis infectious D001170||arthritides bacterial D001170||arthritides infectious D001170||arthritides septic D001170||arthritides suppurative D001170||arthritides viral D001170||arthritis bacterial D001170||arthritis septic D001170||arthritis suppurative D001170||arthritis viral D001170||bacterial arthritides D001170||bacterial arthritis D001170||infectious arthritides D001170||infectious arthritis D001170||septic arthritides D001170||septic arthritis D001170||suppurative arthritides D001170||suppurative arthritis D001170||viral arthritides D001170||viral arthritis D014474||unconsciousness D014474||consciousness loss of D014474||loss of consciousness D014474||state unconscious D014474||unconscious state D014474||unconscious states D013145||spirochaetales infections D013145||infection spirochaetales D013145||infection spirochete D013145||infections spirochaetales D013145||infections spirochete D013145||spirochaetales infection D013145||spirochete infection D013145||spirochete infections 606657||glaucoma normal tension susceptibility to 606657||glaucoma normal pressure susceptibility to 606657||npg 606657||ntg C536461||waaler aarskog syndrome C537792||axial osteosclerosis C537792||osteomesopyknosis C537793||ayazi syndrome C537793||choroideremia deafness obesity C537793||choroideremia obesity and congenital deafness C537793||choroideremia with deafness and obesity D001259||ataxia D001259||appendicular ataxia D001259||appendicular ataxias D001259||ataxia appendicular D001259||ataxia limb D001259||ataxia motor D001259||ataxias D001259||ataxias appendicular D001259||ataxia sensory D001259||ataxias limb D001259||ataxias motor D001259||ataxias sensory D001259||ataxias truncal D001259||ataxia truncal D001259||ataxy D001259||coordination impairment D001259||coordination impairments D001259||coordination lack D001259||dyscoordination D001259||dyssynergia D001259||impairment coordination D001259||impairments coordination D001259||incoordination D001259||incoordinations D001259||lack of coordination D001259||limb ataxia D001259||limb ataxias D001259||motor ataxia D001259||motor ataxias D001259||rubral tremor D001259||rubral tremors D001259||sensory ataxia D001259||sensory ataxias D001259||tremor rubral D001259||tremors rubral D001259||truncal ataxia D001259||truncal ataxias C537790||axial mesodermal dysplasia spectrum C537790||russell weaver bull syndrome C537791||axial osteomalacia C537791||atypical osteomalacia involving the axial skeleton C537796||bagatelle cassidy syndrome C537796||macrocephaly hypertelorism short limbs hearing loss and developmental delay C537796||macrocephaly short limbs deafness D014570||urologic diseases D014570||diseases urinary tract D014570||diseases urologic D014570||diseases urological D014570||disease urinary tract D014570||disease urologic D014570||disease urological D014570||urinary tract disease D014570||urinary tract diseases D014570||urological disease D014570||urological diseases D014570||urologic disease C562753||nasal bones absence of C562753||nasal cartilages agenesis of C537797||bahemuka brown syndrome C537797||spastic paraplegia facial cutaneous lesions C537794||baby rattle pelvic dysplasia C562751||epistaxis hereditary C537795||baetz greenwalt syndrome C537795||hypoplastic right sided heart complex C562757||ciliary discoordination due to random ciliary orientation C562757||rutland ciliary disorientation syndrome D001251||astigmatism D001250||asthma exercise induced D001250||asthmas exercise induced D001250||bronchospasm exercise induced D001250||bronchospasms exercise induced D001250||exercise induced asthma D001250||exercise induced asthmas D001250||exercise induced bronchospasm D001250||exercise induced bronchospasms D002581||uterine cervical incompetence D002581||cervical incompetence uterine D002581||cervices incompetent D002581||cervix incompetence D002581||cervix incompetent D002581||incompetence cervix D002581||incompetence uterine cervical D002581||incompetent cervices D002581||incompetent cervix 613730||hemorrhagic destruction of the brain subependymal calcification and cataracts 613730||hdbscc D001254||astrocytoma D001254||anaplastic astrocytoma D001254||anaplastic astrocytomas D001254||astrocytic glioma D001254||astrocytic gliomas D001254||astrocytoma anaplastic D001254||astrocytoma cerebral D001254||astrocytoma childhood cerebral D001254||astrocytoma fibrillary D001254||astrocytoma gemistocytic D001254||astrocytoma grade i D001254||astrocytoma grade ii D001254||astrocytoma grade iii D001254||astrocytoma intracranial D001254||astrocytoma juvenile pilocytic D001254||astrocytoma pilocytic D001254||astrocytoma protoplasmic D001254||astrocytomas D001254||astrocytomas anaplastic D001254||astrocytomas cerebral D001254||astrocytomas childhood cerebral D001254||astrocytomas fibrillary D001254||astrocytomas gemistocytic D001254||astrocytomas grade i D001254||astrocytomas grade ii D001254||astrocytomas grade iii D001254||astrocytomas intracranial D001254||astrocytomas juvenile pilocytic D001254||astrocytomas pilocytic D001254||astrocytomas protoplasmic D001254||astrocytoma subependymal giant cell D001254||astroglioma D001254||astrogliomas D001254||cerebral astrocytoma D001254||cerebral astrocytoma childhood D001254||cerebral astrocytomas D001254||cerebral astrocytomas childhood D001254||childhood cerebral astrocytoma D001254||childhood cerebral astrocytomas D001254||fibrillary astrocytoma D001254||fibrillary astrocytomas D001254||gemistocytic astrocytoma D001254||gemistocytic astrocytomas D001254||glioma astrocytic D001254||gliomas astrocytic D001254||grade i astrocytoma D001254||grade i astrocytomas D001254||grade ii astrocytoma D001254||grade ii astrocytomas D001254||grade iii astrocytoma D001254||grade iii astrocytomas D001254||intracranial astrocytoma D001254||intracranial astrocytomas D001254||juvenile pilocytic astrocytoma D001254||juvenile pilocytic astrocytomas D001254||mixed oligoastrocytoma D001254||mixed oligoastrocytomas D001254||oligoastrocytoma mixed D001254||oligoastrocytomas mixed D001254||pilocytic astrocytoma D001254||pilocytic astrocytoma juvenile D001254||pilocytic astrocytomas D001254||pilocytic astrocytomas juvenile D001254||protoplasmic astrocytoma D001254||protoplasmic astrocytomas D001254||subependymal giant cell astrocytoma C565772|604432||spinocerebellar ataxia 11 C565772|604432||sca11 C562759||bundle branch block familial isolated complete right 613723||muscular dystrophy limb girdle type 2q 613723||lgmd2q 613724||leukoencephalopathy with dystonia and motor neuropathy 613724||sterol carrier protein 2 deficiency D002590||cestode infections D002590||bertielliases D002590||bertielliasis D002590||cenuriases D002590||cenuriasis D002590||cestode infection D002590||coenuriases D002590||coenuriasis D002590||dipylidiases D002590||dipylidiasis D002590||infection cestode D002590||infections cestode D002590||infections tapeworm D002590||infection tapeworm D002590||raillietiniases D002590||raillietiniasis D002590||tapeworm infection D002590||tapeworm infections 613729||chromosome 7q11 23 deletion syndrome distal 1 2 mb 613729||distal chromosome 7q11 23 deletion syndrome D013231||steatitis D013231||steatitides C537789||axenfeld rieger anomaly with cardiac defects and sensorineural hearing loss C537789||axenfeld rieger anomaly with atrial septal defect and sensorineural hearing loss C563834|608907||alzheimer disease 9 C563834|608907||ad9 C563834|608907||alzheimer disease 9 late onset 233300||ovarian dysgenesis 1 233300||odg1 233300||ovarian dysgenesis hypergonadotropic autosomal recessive 233300||ovarian dysgenesis hypergonadotropic with normal karyotype 233300||ovarian failure hypergonadotropic 233300||xxgd 233300||xx gonadal dysgenesis C537787||aphalangia syndactyly microcephaly 608244|C564268||otosclerosis 3 608244|C564268||otsc3 C537788||aplasia cutis congenita intestinal lymphangiectasia C537788||acc with intestinal lymphangiectasia C537788||aplasia cutis congenita with intestinal lymphangiectasia D014565||urogenital neoplasms D014565||cancer genitourinary D014565||cancer genito urinary D014565||cancers genitourinary D014565||cancers genito urinary D014565||cancers urogenital D014565||cancer urogenital D014565||genito urinary cancer D014565||genitourinary cancer D014565||genito urinary cancers D014565||genitourinary cancers D014565||genito urinary neoplasm D014565||genitourinary neoplasm D014565||genito urinary neoplasms D014565||genitourinary neoplasms D014565||neoplasm genitourinary D014565||neoplasm genito urinary D014565||neoplasms genitourinary D014565||neoplasms genito urinary D014565||neoplasms urogenital D014565||neoplasm urogenital D014565||urogenital cancer D014565||urogenital cancers D014565||urogenital neoplasm C537786|610256||aphakia congenital primary C537786|610256||congenital primary aphakia D014564||urogenital abnormalities D014564||abnormalities genitourinary D014564||abnormalities urogenital D014564||abnormality genitourinary D014564||abnormality urogenital D014564||genitourinary abnormalities D014564||genitourinary abnormality D014564||urogenital abnormality C536472||upington disease C536472||familial dyschondroplasia C536472||perthes like hip disease enchondromata and ecchondromata C562760||capillary malformations congenital 1 C536473||upton young syndrome C536473||mental retardation and multiple nevi C536473||severe developmental delay and multiple strawberry naevi C536470||uniparental disomy of chromosome 2 C536470||uniparental disomy of 2 C536471||uniparental disomy paternal chromosome 14 C536471||paternal uniparental disomy 14 155600||melanoma cutaneous malignant susceptibility to 1 155600||cmm 155600||cmm1 155600||dns 155600||mlm C536476||urban schosser spohn syndrome C536476||hereditary mucoepithelial dysplasia C536476||mucoepithelial dysplasia hereditary D014581||urticaria D014581||hives D014581||urticarias 609069|C563796||diabetes mellitus permanent neonatal with cerebellar agenesis 609069|C563796||paca 609069|C563796||pancreatic and cerebellar agenesis C536477||urethral obstruction sequence C536477||early urethral obstruction sequence C566460|609646||deafness autosomal recessive 42 C566460|609646||dfnb42 C562761||splenoportal vascular anomalies C536474||urachal adenocarcinoma C536474||adenocarcinoma of the urachus 155601||melanoma cutaneous malignant susceptibility to 2 155601||cmm2 C536475||urachal cancer C536475||urachal carcinoma D001264||athetosis D001264||athetoid movement D001264||athetoid movements D001264||athetoses D001264||disease hammond D001264||disease hammond apos s D001264||diseases hammond D001264||diseases hammond apos s D001264||hammond disease D001264||hammond diseases D001264||hammond apos s disease D001264||hammonds disease D001264||hammond apos s diseases D001264||movement athetoid D001264||movements athetoid C564246|608394||deafness autosomal dominant 43 C564246|608394||dfna43 C562768||hypothyroidism autoimmune C536928|276300||turcot syndrome C536928|276300||brain tumor polyposis syndrome 1 C536928|276300||btp1 syndrome C536928|276300||btps1 C536928|276300||childhood cancer syndrome C536928|276300||cmmrds C536928|276300||cns tumors with familial polyposis of the colon C536928|276300||constitutional mismatch repair deficiency syndrome C536928|276300||mismatch repair cancer syndrome C536928|276300||mismatch repair deficiency C536928|276300||mmrcs C536928|276300||mmr deficiency C562765||esophageal ring lower D002598||chagas cardiomyopathy D002598||cardiomyopathy chagas D002598||cardiomyopathy chagas apos D002598||cardiovascular trypanosomiasis D002598||chagas apos cardiomyopathy D002598||myocarditis chagas D002598||trypanosomiasis cardiovascular D001261||pulmonary atelectasis D001261||atelectases D001261||atelectases compression D001261||atelectases compression pulmonary D001261||atelectases congestive D001261||atelectases congestive pulmonary D001261||atelectases contraction pulmonary D001261||atelectases postoperative pulmonary D001261||atelectases pulmonary D001261||atelectases resorption D001261||atelectases resorption pulmonary D001261||atelectasis D001261||atelectasis compression D001261||atelectasis compression pulmonary D001261||atelectasis congestive D001261||atelectasis congestive pulmonary D001261||atelectasis contraction pulmonary D001261||atelectasis postoperative pulmonary D001261||atelectasis pulmonary D001261||atelectasis resorption D001261||atelectasis resorption pulmonary D001261||collapse lung D001261||compression atelectases D001261||compression atelectasis D001261||compression pulmonary atelectases D001261||compression pulmonary atelectasis D001261||congestive atelectases D001261||congestive atelectasis D001261||congestive pulmonary atelectases D001261||congestive pulmonary atelectasis D001261||contraction pulmonary atelectases D001261||contraction pulmonary atelectasis D001261||lung collapse D001261||postoperative pulmonary atelectases D001261||postoperative pulmonary atelectasis D001261||pulmonary atelectases D001261||pulmonary atelectases compression D001261||pulmonary atelectases congestive D001261||pulmonary atelectases contraction D001261||pulmonary atelectases postoperative D001261||pulmonary atelectases resorption D001261||pulmonary atelectasis compression D001261||pulmonary atelectasis congestive D001261||pulmonary atelectasis contraction D001261||pulmonary atelectasis postoperative D001261||pulmonary atelectasis resorption D001261||resorption atelectases D001261||resorption atelectasis D001261||resorption pulmonary atelectases D001261||resorption pulmonary atelectasis 613720||epileptic encephalopathy early infantile 7 613720||eiee7 613721||epileptic encephalopathy early infantile 11 613721||eiee11 D001265||athletic injuries D001265||athletic injury D001265||injuries athletic D001265||injuries sports D001265||injury athletic D001265||injury sports D001265||sports injuries D001265||sports injury 613722||epileptic encephalopathy early infantile 12 613722||eiee12 D064706||vocal cord dysfunction D064706||dysfunctions vocal cord D064706||dysfunction vocal cord D064706||exercise induced vocal cord dysfunction D064706||paradoxical vocal fold motion D064706||paradoxical vocal fold motion disorder D064706||vocal cord dysfunctions 613717||treacher collins syndrome 2 613717||tcs2 613718||deafness autosomal recessive 74 613718||dfnb74 120970||cord 120970||cord2 120970||crd 120970||crd2 120970||rcrd2 C536469||uniparental disomy of 13 C536469||maternal uniparental disomy of chromosome 13 C536469||paternal uniparental disomy 13 C536469||paternal uniparental disomy of chromosome 13 C536469||uniparental disomy of chromosome 13 C536467||waardenburg syndrome type 4 C536467||hirschsprung disease with pigmentary anomaly C536467|277580||shah waardenburg syndrome C536467||waardenburg hirschsprung disease C536467|277580||waardenburg shah syndrome C536467|277580||waardenburg syndrome type 4a C536467|277580||waardenburg syndrome type iva C536467|277580||waardenburg syndrome with hirschsprung disease type 4a C537798||fetal trimethadione syndrome C537798||trimethadione embryopathy C536468||uniparental disomy of 11 C536468||paternal uniparental disomy for chromosome 11 type C536468||uniparental disomy of chromosome 11 D014571||urologic neoplasms D014571||cancer of the urinary tract D014571||cancer of urinary tract D014571||cancers urinary tract D014571||cancers urologic D014571||cancers urological D014571||cancer urinary tract D014571||cancer urologic D014571||cancer urological D014571||neoplasms urinary tract D014571||neoplasms urologic D014571||neoplasms urological D014571||neoplasm urinary tract D014571||neoplasm urologic D014571||neoplasm urological D014571||tract neoplasms urinary D014571||tract neoplasm urinary D014571||urinary tract cancer D014571||urinary tract cancers D014571||urinary tract neoplasm D014571||urinary tract neoplasms D014571||urological cancer D014571||urological cancers D014571||urological neoplasm D014571||urological neoplasms D014571||urologic cancer D014571||urologic cancers D014571||urologic neoplasm C536168|148210||keratitis ichthyosis and deafness kid syndrome C536168|148210||keratitis ichthyosis deafness syndrome autosomal dominant C536168|148210||kid syndrome C536168|148210||kid syndrome autosomal dominant C566579|602093||cone dystrophy 3 C566579|602093||cod3 C566579|602093||cone rod dystrophy 14 C566579|602093||cord14 C566579|602093||cord14 included C566579|602093||retinal cone dystrophy C566579|602093||retinal cone dystrophy cone rod dystrophy 14 included C536483||uropathy distal obstructive polydactyly D001238||asphyxia neonatorum D001237||asphyxia D001237||asphyxias D001237||suffocation D001237||suffocations C536481||urogenital adysplasia C562730||adenocarcinoma of esophagus C562731||teratoma ovarian C562731||dermoid cyst ovarian C565706|610198||3 methylglutaconic aciduria type v C565706|610198||cardiomyopathy dilated with ataxia C565706|610198||dcma C565706|610198||mga5 C565706|610198||mga type v C565706|610198||mgca5 C562738||histiocytosis familial lipochrome C562739||cloacogenic carcinoma D002561||cerebrovascular disorders D002561||brain vascular disorder D002561||brain vascular disorders D002561||cerebrovascular disorder D002561||cerebrovascular insufficiencies D002561||cerebrovascular insufficiency D002561||cerebrovascular occlusion D002561||cerebrovascular occlusions D002561||insufficiencies cerebrovascular D002561||insufficiency cerebrovascular D002561||intracranial vascular disease D002561||intracranial vascular diseases D002561||intracranial vascular disorder D002561||intracranial vascular disorders D002561||occlusion cerebrovascular D002561||occlusions cerebrovascular D002561||vascular disease intracranial D002561||vascular diseases intracranial D002561||vascular disorder brain D002561||vascular disorder intracranial D002561||vascular disorders brain D002561||vascular disorders intracranial C563750|609283||progressive external ophthalmoplegia with mitochondrial dna deletions autosomal dominant 2 C563750|609283||peoa2 C563750|609283||progressive external ophthalmoplegia autosomal dominant 2 C562737||connective tissue nevus D013217||starvation D013217||famine D013217||famines D013217||starvations D014549||urinary incontinence D014549||incontinence urinary 613702||klippel feil syndrome 3 autosomal dominant 613702||kfs3 D014548||urinary fistula D014548||fistulas urinary D014548||fistula urinary D014548||urinary fistulas 613703||microphthalmia isolated with coloboma 6 613703||mcopcb6 D015878||mydriasis 613704||microphthalmia isolated 7 613704||mcop7 D015877||miosis D015877||constricted pupil D015877||constricted pupils D015877||mioses D015877||mioses persistent D015877||mioses pupillary D015877||miosis persistent D015877||miosis pupillary D015877||persistent mioses D015877||persistent miosis D015877||pupil constricted D015877||pupillary mioses D015877||pupillary miosis D015877||pupils constricted D015877||pupil small D015877||pupils small D015877||small pupil D015877||small pupils 613706||noonan syndrome 7 613706||ns7 613707||leopard syndrome 3 D005173|612416||factor xi deficiency D005173|612416||deficiencies factor xi D005173|612416||deficiency factor xi D005173|612416||f11 deficiency D005173|612416||factor xi deficiencies D005173|612416||hemophilia c D005173|612416||plasma thromboplastin antecedent deficiency D005173|612416||pta deficiency D005173|612416||rosenthal apos s syndrome D005173|612416||rosenthals syndrome D005173|612416||rosenthal apos s syndromes D005173|612416||rosenthal syndrome D005173|612416||rosenthal syndromes D005173|612416||syndrome rosenthal D005173|612416||syndrome rosenthal apos s C536478||urioste martinez frias syndrome C536478||urioste syndrome D014545||urinary calculi D014545||calculi urinary D014545||calculus urinary D014545||stones urinary D014545||stones urinary tract D014545||stone urinary D014545||stone urinary tract D014545||urinary calculus D014545||urinary stone D014545||urinary stones D014545||urinary tract stone D014545||urinary tract stones D015875||anisocoria D015875||anisocoria physiologic D015875||inequality pupillary size D015875||physiologic anisocoria D015875||pupil diameter unequal D015875||pupillary size inequality C566504|609622||short qt syndrome 3 C566504|609622||sqt3 C563354|601316||deafness autosomal dominant 10 C563354|601316||dfna10 C567032|610992||phosphoserine aminotransferase deficiency C567032|610992||psatd C567032|610992||psat deficiency C536495||vacterl association C536495||vactel association C536495||vacterl syndrome C536495||vertebral anal tracheoesophageal esophageal radial anomalies D001248||asthenopia D001248||eye fatigue D001248||eyestrain D001248||fatigue eye D001248||fatigue visual D001248||visual fatigue C538138|307030||hyperglycerolemia C538138|307030||gk1 deficiency C538138|307030||gkd C538138|307030||gk deficiency C538138|307030||glycerol kinase deficiency D001247||asthenia D001247||asthenias C562741||adamantinoma of long bones D002578||uterine cervical dysplasia D002578||cervical dysplasia uterine D002578||cervix dysplasia D002578||dysplasia cervix D002578||dysplasia uterine cervical C562742||blepharochalasis and double lip C562742||ascher syndrome D002579||uterine cervical erosion D002579||cervical erosion uterine D002579||cervix erosion D002579||cervix erosion uterine D002579||erosion cervix D002579||erosion uterine cervical D002579||erosion uterine cervix D002579||uterine cervix erosion C536499||tetra amelia with pulmonary hypoplasia C536499||absence of upper and lower limbs with pulmonary hypoplasia C536499||syndrome of tetraamelia with pulmonary hypoplasia C567640|613329||plasminogen activator inhibitor 1 deficiency C567640|613329||hyperfibrinolysis due to pai1 deficiency C536496||tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities C536496||absence of all four limbs with ectodermal dysplasia and lacrimal duct abnormalities C536496||tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities C562740||hemangiopericytoma malignant C536497||x linked tetra amelia C536497||tetra amelia x linked D002575||uterine cervicitis D002575||cervicitides D002575||cervicitides uterine D002575||cervicitis D002575||cervicitis uterine D002575||uterine cervicitides D002577||uterine cervical diseases D002577||cervical diseases uterine D002577||cervical disease uterine D002577||cervix disease D002577||cervix diseases D002577||disease cervix D002577||diseases cervix D002577||diseases uterine cervical D002577||disease uterine cervical D002577||uterine cervical disease C536491||usher syndrome type 2b C537316|301840||spinocerebellar ataxia x linked 4 C537316|301840||ataxia dementia syndrome x linked C537316|301840||scax4 C565607|224750||schopf schulz passarge syndrome C565607|224750||eccrine tumors with ectodermal dysplasia C565607|224750||keratosis palmoplantaris with cystic eyelids hypodontia and hypotrichosis C565607|224750||ssps D002573||cervical rib syndrome D002573||anomalous cervical rib syndrome D002573||cervical rib cervical band syndrome D002573||cervical rib syndromes D002573||naffziger apos s syndrome D002573||naffziger apos s syndromes D002573||naffziger syndrome D002573||naffziger syndromes D002573||syndrome cervical rib D002573||syndrome cervical rib cervical band D002573||syndrome naffziger D002573||syndrome naffziger apos s D002573||syndromes cervical rib D002573||syndromes naffziger D002573||syndromes naffziger apos s 613700||supernumerary der 22 t 8 D064726||triple negative breast neoplasms D064726||breast cancers triple negative D064726||breast cancer triple negative D064726||breast neoplasms triple negative D064726||breast neoplasm triple negative D064726||er negative pr negative her2 negative breast cancer D064726||er negative pr negative her2 negative breast neoplasms D064726||triple negative breast cancer D064726||triple negative breast cancers D064726||triple negative breast neoplasm C537207|156550||kniest dysplasia C537207|156550||kniest chondrodystrophy C537207|156550||kniest syndrome C537207|156550||swiss cheese cartilage dysplasia D013226||status epilepticus D013226||absence status D013226||complex partial status epilepticus D013226||electrographic status epilepticus D013226||generalized convulsive status epilepticus D013226||generalized status epilepticus D013226||grand mal status epilepticus D013226||non convulsive status epilepticus D013226||petit mal status D013226||simple partial status epilepticus D013226||status absence D013226||status epilepticus complex partial D013226||status epilepticus electrographic D013226||status epilepticus generalized D013226||status epilepticus generalized convulsive D013226||status epilepticus grand mal D013226||status epilepticus non convulsive D013226||status epilepticus simple partial D013226||status epilepticus subclinical D013226||status petit mal D013226||subclinical status epilepticus C536289|300584||immunodeficiency without anhidrotic ectodermal dysplasia C536289|300584||immunodeficiency isolated C536289|300584||immunodeficiency pure C566618|601815||phosphoglycerate dehydrogenase deficiency C566618|601815||phgdh deficiency D014552||urinary tract infections D014552||infections urinary tract D014552||infection urinary tract D014552||tract infections urinary D014552||tract infection urinary D014552||urinary tract infection D015882||retinal necrosis syndrome acute D015882||acute retinal necroses D015882||acute retinal necrosis D015882||necroses acute retinal D015882||necrosis acute retinal D015882||retinal necroses acute D015882||retinal necrosis acute D014550||urinary incontinence stress D014550||incontinence urinary stress D014550||stress incontinence urinary D014550||urinary stress incontinence D013224||status asthmaticus D013224||asthmatic crises D013224||asthmatic crisis D013224||asthmatic shock D013224||asthmatic shocks D013224||asthmaticus status D013224||crises asthmatic D013224||crisis asthmatic D013224||shock asthmatic D013224||shocks asthmatic C567750|613105||choroidal dystrophy central areolar 2 C567750|613105||cacd2 C567750|613105||central areolar choroidal dystrophy 2 C567750|613105||macular dystrophy progressive D014555||urination disorders D014555||disorders urination D014555||disorder urination D014555||urination disorder D002549||diffuse cerebral sclerosis of schilder D002549||alper disease D002549||alper apos s disease D002549||alpers disease D002549||alpers apos disease D002549||alper apos s syndrome D002549||alpers apos syndrome D002549||alper syndrome D002549||balo concentric sclerosis D002549||balo apos s concentric sclerosis D002549||cerebral sclerosis diffuse D002549||concentric sclerosis balo D002549||concentric sclerosis balo apos s D002549||diffuse cerebral scleroses D002549||diffuse cerebral sclerosis D002549||diffuse scleroses myelinoclastic D002549||diffuse sclerosis myelinoclastic D002549||disease alpers apos D002549||disease schilder D002549||disease schilder apos s D002549||encephalitis periaxialis D002549||encephalitis periaxialis concentrica D002549||encephalitis periaxialis diffusa D002549||myelinoclastic diffuse scleroses D002549||myelinoclastic diffuse sclerosis D002549||poliodystrophia cerebri D002549||progressive neuronal degeneration of childhood with liver disease D002549||progressive sclerosing poliodystrophies D002549||progressive sclerosing poliodystrophy D002549||schilder disease D002549||schilder apos s disease D002549||schilders disease D002549||scleroses balo apos s concentric D002549||scleroses myelinoclastic diffuse D002549||sclerosis diffuse cerebral D002549||sclerosis myelinoclastic diffuse D002549||sudanophilic cerebral sclerosis D002549||syndrome alpers D002549||syndrome alpers huttenlocher D051437||renal insufficiency D051437||failure kidney D051437||failure renal D051437||failures kidney D051437||failures renal D051437||insufficiency kidney D051437||kidney failure D051437||kidney failures D051437||kidney insufficiencies D051437||kidney insufficiency D051437||renal failure D051437||renal failures D051437||renal insufficiencies 612563|C567253||diamond blackfan anemia 8 612563|C567253||dba8 D002545||brain ischemia D002545||brain ischemias D002545||cerebral ischemia D002545||cerebral ischemias D002545||encephalopathy ischemic D002545||ischemia brain D002545||ischemia cerebral D002545||ischemias cerebral D002545||ischemic encephalopathies D002545||ischemic encephalopathy C536421||prinzmetal apos s variant angina D003876||atopic dermatitides D003876||atopic dermatitis D003876||atopic eczema D003876||atopic neurodermatitides D003876||atopic neurodermatitis D003876||dermatitides atopic D003876||disseminated neurodermatitides D003876||disseminated neurodermatitis D003876||eczema atopic D003876||eczema infantile D003876||infantile eczema D003876||neurodermatitides atopic D003876||neurodermatitides disseminated D003876||neurodermatitis atopic D003876||neurodermatitis disseminated C537752||onychotrichodysplasia and neutropenia C537752||onychotrichodysplasia chronic neutropenia and mental retardation syndrome D002546||ischemic attack transient D002546||anterior circulation transient ischemic attack D002546||attacks transient ischemic D002546||attack transient ischemic D002546||brainstem ischemias transient D002546||brainstem ischemia transient D002546||brain stem ischemia transient D002546||brainstem transient ischemic attack D002546||brain stem transient ischemic attack D002546||brain tia D002546||carotid circulation transient ischemic attack D002546||cerebral ischemias transient D002546||cerebral ischemia transient D002546||crescendo transient ischemic attacks D002546||ischemias transient brainstem D002546||ischemias transient cerebral D002546||ischemia transient brainstem D002546||ischemia transient cerebral D002546||ischemic attacks transient D002546||posterior circulation transient ischemic attack D002546||tia brain D002546||tias transient ischemic attack D002546||tia transient ischemic attack D002546||transient brainstem ischemia D002546||transient cerebral ischemia D002546||transient cerebral ischemias D002546||transient ischemic attack D002546||transient ischemic attack anterior circulation D002546||transient ischemic attack brainstem D002546||transient ischemic attack brain stem D002546||transient ischemic attack carotid circulation D002546||transient ischemic attack posterior circulation D002546||transient ischemic attacks D002546||transient ischemic attacks crescendo D002546||transient ischemic attack vertebrobasilar circulation D002546||vertebrobasilar circulation transient ischemic attack C536422||progeria short stature pigmented nevi C536422||mulvihill smith syndrome C536422||progeroid short stature with pigmented nevi D003877||dermatitis contact D003877||contact dermatitides D003877||contact dermatitis D003877||contact eczema D003877||contact hypersensitivities D003877||contact hypersensitivity D003877||contact sensitivities D003877||contact sensitivity D003877||dermatitides contact D003877||dermatitis venenata D003877||eczema contact D003877||hypersensitivities contact D003877||hypersensitivity contact D003877||sensitivities contact D003877||sensitivity contact D002547||cerebral palsy D002547||athetoid cerebral palsy D002547||atonic cerebral palsy D002547||cerebral palsies athetoid D002547||cerebral palsies dyskinetic D002547||cerebral palsies dystonic rigid D002547||cerebral palsies monoplegic D002547||cerebral palsy athetoid D002547||cerebral palsy atonic D002547||cerebral palsy congenital D002547||cerebral palsy diplegic infantile D002547||cerebral palsy dyskinetic D002547||cerebral palsy dystonic rigid D002547||cerebral palsy hypotonic D002547||cerebral palsy mixed D002547||cerebral palsy monoplegic D002547||cerebral palsy monoplegic infantile D002547||cerebral palsy quadriplegic infantile D002547||cerebral palsy rolandic type D002547||cerebral palsy spastic D002547||congenital cerebral palsy D002547||cp cerebral palsy D002547||diplegia spastic D002547||diplegias spastic D002547||diplegic infantile cerebral palsy D002547||dyskinetic cerebral palsy D002547||dystonic rigid cerebral palsies D002547||dystonic rigid cerebral palsy D002547||hypotonic cerebral palsies D002547||hypotonic cerebral palsy D002547||infantile cerebral palsy diplegic D002547||infantile cerebral palsy monoplegic D002547||infantile cerebral palsy quadriplegic D002547||little disease D002547||little apos s disease D002547||mixed cerebral palsies D002547||mixed cerebral palsy D002547||monoplegic cerebral palsies D002547||monoplegic cerebral palsy D002547||monoplegic infantile cerebral palsy D002547||quadriplegic infantile cerebral palsy D002547||rolandic type cerebral palsy D002547||spastic cerebral palsies D002547||spastic cerebral palsy D002547||spastic diplegia D002547||spastic diplegias C537750||oncocytoma renal C537750||renal oncocytoma C567098|613608||epilepsy familial adult myoclonic 3 C567098|613608||cortical myoclonic tremor with epilepsy familial 3 C567098|613608||fame3 C567098|613608||fcmte3 C537934|603358||finnish lethal neonatal metabolic syndrome C537934|603358||fellman syndrome C537934|603358||finnish lactic acidosis with hepatic hemosiderosis C537934|603358||flnms C537934|603358||gracile syndrome C537934|603358||growth retardation amino aciduria cholestasis iron overload lactic acidosis and early death C537934|603358||lactic acidosis finnish with hepatic hemosiderosis C536420||primrose syndrome C537751||oncogenic osteomalacia D003872||dermatitis D003872||dermatitides D002542||intracranial embolism and thrombosis D002542||brain embolism and thrombosis D002542||cerebral embolism and thrombosis D002542||embolism and thrombosis brain D003873||dermatitis exfoliative D003873||dermatitides exfoliative D003873||dermatitis exfoliativa D003873||erythroderma D003873||erythrodermas D003873||exfoliative dermatitides D003873||exfoliative dermatitis D002543||cerebral hemorrhage D002543||brain hemorrhage cerebral D002543||brain hemorrhages cerebral D002543||cerebral brain hemorrhage D002543||cerebral brain hemorrhages D002543||cerebral hemorrhages D002543||cerebral parenchymal hemorrhage D002543||cerebral parenchymal hemorrhages D002543||cerebrum hemorrhage D002543||cerebrum hemorrhages D002543||hemorrhage cerebral D002543||hemorrhage cerebral brain D002543||hemorrhage cerebral parenchymal D002543||hemorrhage cerebrum D002543||hemorrhage intracerebral D002543||hemorrhages cerebral D002543||hemorrhages cerebral brain D002543||hemorrhages cerebral parenchymal D002543||hemorrhages cerebrum D002543||hemorrhages intracerebral D002543||intracerebral hemorrhage D002543||intracerebral hemorrhages D002543||parenchymal hemorrhage cerebral D002543||parenchymal hemorrhages cerebral D003874||dermatitis herpetiformis D003874||disease duhring D003874||disease duhring apos s D003874||duhring disease D003874||duhring apos s disease D003874||duhrings disease C562711||adrenocortical hypofunction chronic primary congenital C562711||addison disease congenital D064752||atrial remodeling D064752||atrium remodeling D064752||cardiac remodeling atrial D064752||electrical remodeling D064752||myocardial remodeling atrial D064752||remodeling atrial D064752||remodeling atrial cardiac D064752||remodeling atrial myocardial D064752||remodeling atrium D064752||remodeling electrical D003875||drug eruptions D003875||dermatitis adverse drug reaction D003875||dermatitis medicamentosa D003875||drug eruption D003875||drug eruption maculopapular D003875||drug eruptions maculopapular D003875||drug reaction morbilliform D003875||drug reactions morbilliform D003875||eruption drug D003875||eruption maculopapular drug D003875||eruptions drug D003875||eruptions maculopapular drug D003875||exanthem maculopapular D003875||exanthem morbilliform D003875||exanthems maculopapular D003875||exanthems morbilliform D003875||maculopapular drug eruption D003875||maculopapular drug eruptions D003875||maculopapular exanthem D003875||maculopapular exanthems D003875||morbilliform drug reaction D003875||morbilliform drug reactions D003875||morbilliform exanthem D003875||morbilliform exanthems D003875||reaction morbilliform drug D003875||reactions morbilliform drug C562716||delta beta thalassemia C562717||rh deficiency syndrome C531816|102700||severe combined immunodeficiency due to adenosine deaminase deficiency C531816|102700||ada deficiency C531816|102700||ada scid C531816|102700||adenosine deaminase deficiency C531816|102700||adenosine deaminase deficiency partial C531816|102700||adenosine deaminase deficiency partial included C531816|102700||adenosine deaminase deficient severe combined immunodeficiency C531816|102700||adenosine deaminase deficient severe combined immunodeficiency disease C531816|102700||agammaglobulinemia swiss type C531816|102700||bubble boy disease C531816|102700||delayed late onset adenosine deaminase deficiency C531816|102700||partial ada deficiency C531816|102700||partial ada deficiency included C531816|102700||partial adenosine deaminase deficiency C531816|102700||scid1 C531816|102700||scid due to ada deficiency C531816|102700||scid due to ada deficiency delayed onset C531816|102700||scid due to ada deficiency early onset C531816|102700||scid due to ada deficiency early onset scid due to ada deficiency delayed onset included C531816|102700||scid due to ada deficiency late onset C531816|102700||scid due to ada deficiency late onset included C531816|102700||severe combined immunodeficiency alymphocytotic type C531816|102700||severe combined immunodeficiency autosomal recessive t cell negative b cell negative nk cell negative due to adenosine deaminase deficiency D063425||binge drinking D063425||drinking binge C538278|176305||preaxial deficiency postaxial polydactyly and hypospadias C538278|176305||autosomal dominant preaxial deficiency postaxial polydactyly and hypospadias C538278|176305||guttmacher syndrome 607523|C564384||toenail dystrophy isolated 607523|C564384||nail disorder nonsyndromic congenital 8 607523|C564384||ndnc8 D015858||anisometropia D014526||urethritis D014526||urethritides D014525||urethral stricture D014525||anterior urethral stricture D014525||anterior urethral strictures D014525||posterior urethral stricture D014525||posterior urethral strictures D014525||stenoses urethral D014525||stenosis urethral D014525||strictures urethral D014525||stricture urethral D014525||urethral stenoses D014525||urethral stenosis D014525||urethral stricture anterior D014525||urethral stricture posterior D014525||urethral strictures D014525||urethral strictures anterior D014525||urethral strictures posterior C536589|104290||alternating hemiplegia of childhood C536589|104290||ahc1 C536589|104290||alternating hemiplegia C536589|104290||alternating hemiplegia of childhood 1 C536589|104290||alternating hemiplegia syndrome D014524||urethral obstruction D014524||obstructions urethral D014524||obstruction urethral D014524||urethral obstructions C537745||olivopontocerebellar hypoplasia fetal onset C537745||pontocerebellar hypoplasia type 5 C567768|613077||progressive external ophthalmoplegia with mitochondrial dna deletions autosomal dominant 5 C567768|613077||peoa5 C567768|613077||progressive external ophthalmoplegia autosomal dominant 5 C536413||primary granulocytic sarcoma C536418||primary orthostatic tremor C536418||orthostatic tremor primary C536418||shaky leg syndrome C537749||onat syndrome C537749||subaortic stenosis short stature syndrome D014523||urethral neoplasms D014523||cancer of the urethra D014523||cancer of urethra D014523||cancers urethra D014523||cancers urethral D014523||cancer urethra D014523||cancer urethral D014523||neoplasms urethra D014523||neoplasms urethral D014523||neoplasm urethra D014523||neoplasm urethral D014523||urethra cancer D014523||urethra cancers D014523||urethral cancer D014523||urethral cancers D014523||urethral neoplasm D014523||urethra neoplasm D014523||urethra neoplasms D051436||renal insufficiency chronic D051436||chronic kidney disease D051436||chronic kidney diseases D051436||chronic kidney insufficiencies D051436||chronic kidney insufficiency D051436||chronic renal disease D051436||chronic renal diseases D051436||chronic renal insufficiencies D051436||chronic renal insufficiency D051436||disease chronic kidney D051436||disease chronic renal D051436||diseases chronic kidney D051436||diseases chronic renal D051436||kidney disease chronic D051436||kidney diseases chronic D051436||kidney insufficiencies chronic D051436||kidney insufficiency chronic D051436||renal disease chronic D051436||renal diseases chronic D051436||renal insufficiencies chronic D014522||urethral diseases D014522||diseases urethral D014522||disease urethral D014522||urethral disease C538659|176200||porphyria south african type C538659|176200||ppox deficiency variegate porphyria homozygous variant C538659|176200||vp C537747||omphalocele cleft palate syndrome lethal C537747||cleft palate omphalocele syndrome lethal C537747||lethal omphalocele cleft palate syndrome C536417||primary malignant melanoma of the cervix C536417||primary malignant melanoma of the cervix uteri C536417||primary malignant melanoma of the uterine cervix C536417||radiation induced malignant melanoma of the cervix C537748||omphalocele exstrophy imperforate anus C537748||oeis complex C537748||omphalocele exstrophy imperforate anus spinal defects C537748||omphalocele exstrophy of the cloaca imperforate anus and spinal defects D001228||aspergillosis D001228||aspergilloses C566121|119530||orofacial cleft 1 C566121|119530||cleft lip palate nonsyndromic C566121|119530||cleft lip with or without cleft palate nonsyndromic 1 C566121|119530||orofacial cleft nonsyndromic C563557|158901||facioscapulohumeral muscular dystrophy 1b C563557|158901||facioscapulohumeral muscular dystrophy 2 C563557|158901||facioscapulohumeral muscular dystrophy 2 digenic C563557|158901||fshd1b C563557|158901||fshd2 C563557|158901||fshd2 digenic C563557|158901||fshmd1b C563557|158901||muscular dystrophy facioscapulohumeral type 1b C563557|158901||muscular dystrophy facioscapulohumeral type 2 C537760||renoprival hypertension C567791|613068||neurodegeneration due to cerebral folate transport deficiency C536432||cochleosaccular degeneration of the inner ear and progressive cataracts C536432||cochleosaccular degeneration C536432||cochleosaccular degeneration of the inner ear with progressive cataracts C537763||chromosome 6 ring syndrome C537763||ring 6 chromosome C537763||ring chromosome 6 syndrome C537764||chromosome 6 deletion 6q13 q15 C537764||deletion 6q13 q15 C537764||monosomy 6q13 q15 D002558||cerebrospinal fluid otorrhea D002558||cerebrospinal fluid otorrhea post traumatic D002558||cerebrospinal fluid otorrheas D002558||cerebrospinal fluid otorrhea spontaneous D002558||cerebrospinal fluid otorrhea traumatic D002558||cerebrospinal otorrhea D002558||otorrhea cerebrospinal D002558||otorrhea cerebrospinal fluid D002558||otorrhea cerebrospinal fluid post traumatic D002558||otorrhea cerebrospinal fluid spontaneous D002558||otorrhea cerebrospinal fluid traumatic D002558||otorrhea post traumatic cerebrospinal fluid D002558||otorrhea spontaneous cerebrospinal fluid D002558||otorrhea traumatic cerebrospinal fluid D002558||post traumatic cerebrospinal fluid otorrhea D002558||post traumatic otorrhea cerebrospinal fluid D002558||spontaneous cerebrospinal fluid otorrhea D002558||spontaneous otorrhea cerebrospinal fluid D002558||traumatic cerebrospinal fluid otorrhea D002558||traumatic otorrhea cerebrospinal fluid D001229||aspergillosis allergic bronchopulmonary D001229||allergic aspergilloses bronchopulmonary D001229||allergic aspergillosis bronchopulmonary D001229||allergic bronchopulmonary aspergilloses D001229||allergic bronchopulmonary aspergillosis D001229||aspergilloses allergic bronchopulmonary D001229||aspergilloses bronchopulmonary allergic D001229||aspergillosis bronchopulmonary allergic D001229||bronchopulmonary allergic aspergilloses D001229||bronchopulmonary allergic aspergillosis D001229||bronchopulmonary aspergilloses allergic D001229||bronchopulmonary aspergillosis allergic D002559||cerebrospinal fluid rhinorrhea D002559||cerebrospinal fluid rhinorrhea post traumatic D002559||cerebrospinal fluid rhinorrheas D002559||cerebrospinal fluid rhinorrhea spontaneous D002559||cerebrospinal fluid rhinorrhea traumatic D002559||cerebrospinal rhinorrhea D002559||cerebrospinal rhinorrheas D002559||post traumatic cerebrospinal fluid rhinorrhea D002559||post traumatic rhinorrhea cerebrospinal fluid D002559||rhinorrhea cerebrospinal D002559||rhinorrhea cerebrospinal fluid D002559||rhinorrhea cerebrospinal fluid post traumatic D002559||rhinorrhea cerebrospinal fluid spontaneous D002559||rhinorrhea cerebrospinal fluid traumatic D002559||rhinorrhea post traumatic cerebrospinal fluid D002559||rhinorrheas cerebrospinal D002559||rhinorrheas cerebrospinal fluid D002559||rhinorrhea spontaneous cerebrospinal fluid D002559||rhinorrhea traumatic cerebrospinal fluid D002559||spontaneous cerebrospinal fluid rhinorrhea D002559||spontaneous rhinorrhea cerebrospinal fluid D002559||traumatic cerebrospinal fluid rhinorrhea D002559||traumatic rhinorrhea cerebrospinal fluid C537762||chromosome 5 uniparental disomy C537762||mosaic trisomy of chromosome 5 C537762||uniparental disomy of 5 C562723||hyperheparinemia C562724||dysprothrombinemia D003884||dermoid cyst D003884||cyst dermoid D003884||cysts dermoid D003884||dermoid D003884||dermoid cysts D003884||dermoids D004374|607411||ductus arteriosus patent D004374|607411||patency of the ductus arteriosus D004374|607411||patent ductus arteriosus D004374|607411||patent ductus arteriosus familial D004374|607411||pda D004374|607411||pda1 C562721||lazy leukocyte syndrome C562727||dysfibrinogenemia congenital 258660||nonarteritic anterior ischemic optic neuropathy susceptibility to 258660||naion susceptibility to 258660||optic neuropathy anterior ischemic susceptibility to 160150||myopathy centronuclear 1 160150||cnm1 160150|C563544||myopathy centronuclear autosomal dominant 160150|C563544||myotubular myopathy autosomal dominant D003881||dermatomycoses D003881||dermatomycosis D003881||fungal skin disease D003881||fungal skin diseases D003881||skin disease fungal D003881||skin diseases fungal 225060|C536726||zlotogora ogur syndrome 225060|C536726||autosomal recessive ectodermal dysplasia 225060|C536726||bustos simosa pinto cisternas syndrome 225060|C536726||cleft lip palate ectodermal dysplasia syndrome 225060|C536726||cleft lip with or without cleft palate nonsyndromic 7 included 225060|C536726||clped1 225060|C536726||ectodermal dysplasia cleft lip and palate mental retardation and syndactyly 225060|C536726||ectodermal dysplasia cleft lip and palate mental retardation and syndactyly orofacial cleft 7 included 225060|C536726||ectodermal dysplasia margarita island type 225060|C536726||ectodermal dysplasia type 4 225060|C536726||ed4 225060|C536726||ofc7 included D002551||cerebral ventricle neoplasms D002551||brain ventricular neoplasm D002551||brain ventricular neoplasms D002551||brain ventricular tumor D002551||brain ventricular tumors D002551||cerebral ventricle neoplasm D002551||cerebral ventricle tumor D002551||cerebral ventricle tumors D002551||cerebroventricular neoplasm D002551||cerebroventricular neoplasms D002551||intraventricular neoplasm D002551||intraventricular neoplasms D002551||neoplasm brain ventricular D002551||neoplasm cerebral ventricle D002551||neoplasm cerebroventricular D002551||neoplasm intraventricular D002551||neoplasms brain ventricular D002551||neoplasms cerebral ventricle D002551||neoplasms cerebroventricular D002551||neoplasms intraventricular D002551||neoplasms ventricular brain D002551||tumor brain ventricular D002551||tumor cerebral ventricle D002551||tumors brain ventricular D002551||tumors cerebral ventricle D002551||ventricle tumor cerebral D002551||ventricle tumors cerebral D002551||ventricular neoplasm brain D002551||ventricular neoplasms brain D002551||ventricular tumor brain D002551||ventricular tumors brain D003882||dermatomyositis D003882||adult type dermatomyositides D003882||adult type dermatomyositis D003882||childhood type dermatomyositides D003882||childhood type dermatomyositis D003882||dermatomyositides D003882||dermatomyositides adult type D003882||dermatomyositides childhood type D003882||dermatomyositis adult type D003882||dermatomyositis childhood type D003882||dermatopolymyositides D003882||dermatopolymyositis D003882||polymyositis dermatomyositides D003882||polymyositis dermatomyositis D013206||staphylococcal scalded skin syndrome D013206||disease ritter D013206||disease ritter apos s D013206||ritter disease D013206||ritter apos s disease D013206||ritters disease D013206||scalded skin syndromes staphylococcal D013206||scalded skin syndrome staphylococcal D013206||staphylococcal scalded skin syndromes D013206||syndromes staphylococcal scalded skin D013206||syndrome staphylococcal scalded skin D013207||staphylococcal skin infections D013207||diseases staphylococcal skin D013207||disease staphylococcal skin D013207||infections staphylococcal skin D013207||infection staphylococcal skin D013207||skin diseases staphylococcal D013207||skin disease staphylococcal D013207||skin infections staphylococcal D013207||skin infection staphylococcal D013207||skin staphylococcal disease D013207||skin staphylococcal diseases D013207||skin staphylococcal infection D013207||skin staphylococcal infections D013207||staphylococcal disease skin D013207||staphylococcal diseases skin D013207||staphylococcal infection skin D013207||staphylococcal infections skin D013207||staphylococcal skin disease D013207||staphylococcal skin diseases D013207||staphylococcal skin infection D015868||pars planitis D015868||planitis pars 243500|C538167||acidemia isovaleric 243500|C538167||isovaleric acid coa dehydrogenase deficiency 243500|C538167||isovaleric acidemia 243500|C538167||isovaleryl coa carboxylase deficiency 243500|C538167||isovaleryl coa dehydrogenase deficiency 243500|C538167||iva 243500|C538167||ivd deficiency C562729||esophageal squamous cell carcinoma D015867||uveitis intermediate D015867||chronic cyclitis D015867||cyclitis chronic D015867||intermediate uveitis D064749||retrocaval ureter D064749||circumcaval ureter D064749||ureter circumcaval D064749||ureter retrocaval D015866||uveitis posterior D015866||posterior uveitis C564566|300210||mental retardation x linked 58 C564566|300210||mrx58 D015861||retinal neovascularization D015861||neovascularization retinal 611010|C567028||fibromatosis gingival 4 611010|C567028||fibromatosis gingival hereditary 4 611010|C567028||ggf4 611010|C567028||gingf4 611010|C567028||hgf4 C536423||progeroid syndrome neonatal C536423||neonatal progeroid syndrome C536423||wiedemann rautenstrauch syndrome C537754||renal dysplasia limb defects syndrome C537754||renal dysplasia mesomelia and radiohumeral fusion C537754||ulbright hodes syndrome C537755||renal dysplasia diffuse cystic C537755||diffuse cystic renal dysplasia D013202||staphylococcal food poisoning D013202||food poisonings staphylococcal D013202||food poisoning staphylococcal D013202||poisonings staphylococcal food D013202||poisoning staphylococcal food D013202||staphylococcal food poisonings C536429||cloverleaf skull micromelia thoracic dysplasia C536429||micromelic bone dysplasia with cloverleaf skull C563776|609197||glucocorticoid deficiency 3 C563776|609197||familial glucocorticoid deficiency 3 C563776|609197||fgd3 C563776|609197||gccd2 formerly C563776|609197||gccd3 C563776|609197||glucocorticoid deficiency 2 formerly D013203||staphylococcal infections D013203||infections staphylococcal D013203||infection staphylococcal D013203||staphylococcal infection D015864||panuveitis C567765|613086||glaucoma 3 primary congenital d C567765|613086||glc3d C536427||cleft palate midfacial hypoplasia triangular facies and sensorineural hearing loss C536427||unusual triangular facies associated with cleft palate malocclusion midfacial hypoplasia and sensorineural hearing loss D015863||iridocyclitis D015863||cyclitides heterochromic D015863||cyclitis heterochromic D015863||heterochromic cyclitides D015863||heterochromic cyclitis D015863||iridocyclitides D052776||female urogenital diseases D052776||female genitourinary disease D052776||female genitourinary diseases D052776||female urogenital disease D052776||genitourinary disease female D052776||genitourinary diseases female D052776||urogenital disease female D052776||urogenital diseases female C536428||cleidorhizomelic syndrome C536428||cleido rhizomelic syndrome C536428||rhizomelic shortness with clavicular defect C536428||wallis zieff goldblatt syndrome 149730|C538132||lacrimoauriculodentodigital syndrome 149730|C538132||ladd 149730|C538132||levy hollister syndrome C537759||renal tubular acidosis distal type 3 C537759||bicarbonate wasting rta C537759||renal tubular acidosis iii C537759||rta bicarbonate wasting type C537759||rta dislocation type D015862||choroid diseases D015862||choroidal disease D015862||choroidal diseases D015862||choroid disease D015862||disease choroid D015862||disease choroidal D015862||diseases choroid D015862||diseases choroidal D002527||myoclonic cerebellar dyssynergia D002527||ataxia dentate cerebellar D002527||ataxias dentate cerebellar D002527||atrophies dentate cerebellar D002527||atrophy dentate cerebellar D002527||cerebellar ataxias dentate D002527||cerebellar atrophy dentate D002527||cerebellar dyssynergia D002527||cerebellar dyssynergia myoclonic D002527||cerebellar dyssynergias D002527||cerebellar dyssynergias myoclonic D002527||cerebelloparenchymal disorder v D002527||dentate cerebellar ataxia D002527||dentate cerebellar ataxias D002527||dentate cerebellar atrophies D002527||dentate cerebellar atrophy D002527||dentate nucleus syndrome ramsay hunt D002527||dyssynergia cerebellar D002527||dyssynergia cerebellaris myoclonica D002527||dyssynergia cerebellaris myoclonica of hunt D002527||dyssynergia cerebellaris progressiva D002527||dyssynergia myoclonic cerebellar D002527||dyssynergias cerebellar D002527||dyssynergias myoclonic cerebellar D002527||myoclonic cerebellar dyssynergias D002527||ramsay hunt cerebellar syndrome D002527||ramsay hunt dentate syndrome D002527||spinodentate atrophy C537770||anorchia C537770||absence of testes C537770||anorchia familial C537770||congenital absence of testes C537770||empty scrotum C537770||testicular regression embryonic C537770||testicular regression syndrome C537770||vanishing testes C537770||xy gonadal agenesis syndrome C537770||xy gonadal dysgenesis syndrome D002528||cerebellar neoplasms D002528||benign cerebellar neoplasm D002528||benign cerebellar neoplasms D002528||cancer cerebellar D002528||cerebellar cancer D002528||cerebellar cancers D002528||cerebellar neoplasm D002528||cerebellar neoplasm benign D002528||cerebellar neoplasm malignant D002528||cerebellar neoplasm primary D002528||cerebellar neoplasms benign D002528||cerebellar neoplasms malignant D002528||cerebellar neoplasms primary D002528||cerebellar tumor D002528||cerebellar tumors D002528||cerebellum primary neoplasm D002528||cerebellum primary neoplasms D002528||malignant cerebellar neoplasm D002528||malignant cerebellar neoplasms D002528||neoplasm benign cerebellar D002528||neoplasm cerebellar D002528||neoplasm cerebellum primary D002528||neoplasm malignant cerebellar D002528||neoplasms cerebellar D002528||neoplasms cerebellar benign D002528||neoplasms cerebellar malignant D002528||neoplasms cerebellar primary D002528||primary cerebellar neoplasm D002528||primary cerebellar neoplasms D002528||primary neoplasm cerebellum D002528||primary neoplasms cerebellum D002528||tumor cerebellar C536440||corneal hypesthesia familial C536440||trigeminal anesthesia familial D003859||dependent personality disorder D003859||dependent personality disorders D003859||disorder dependent personality D003859||passive dependent personality D003859||personality disorder dependent D003859||personality passive dependent C537771||anorectal atresia C537771||anorectal malformation C537771||anorectal stenosis C566419|602966||orofacial cleft 2 C566419|602966||cleft lip with or without cleft palate nonsyndromic 2 C566419|602966||ofc2 189800|D011225||pre eclampsia 189800|D011225||edema proteinuria hypertension gestosis 189800|D011225||eph complex 189800|D011225||eph gestosis 189800|D011225||eph toxemia 189800|D011225||eph toxemias 189800|D011225||gestosis edema proteinuria hypertension 189800|D011225||gestosis eph 189800|D011225||gestosis hypertension edema proteinuria 189800|D011225||gestosis proteinuria edema hypertension 189800|D011225||hellp included 189800|D011225||hemolysis elevated liver enzymes and low platelet count included 189800|D011225||hypertension edema proteinuria gestosis 189800|D011225||pee 189800|D011225||pee1 189800|D011225||pee2 189800|D011225||pee3 189800|D011225||pee4 189800|D011225||preeclampsia 189800|D011225||preeclampsia eclampsia 1 189800|D011225||preg1 189800|D011225||pregnancy toxemia 189800|D011225||pregnancy toxemias 189800|D011225||proteinuria edema hypertension gestosis 189800|D011225||toxemia eph 189800|D011225||toxemia of pregnancy 189800|D011225||toxemia of pregnancy hypertension pregnancy induced included 189800|D011225||toxemia pregnancy 189800|D011225||toxemias eph 189800|D011225||toxemias pregnancy C566299||alzheimer disease early onset with cerebral amyloid angiopathy C566495|609965||deafness autosomal dominant 53 C566495|609965||dfna53 D002524||cerebellar ataxia D002524||adiadochokineses D002524||adiadochokinesis D002524||ataxia cerebellar D002524||ataxias cerebellar D002524||cerebellar ataxias D002524||cerebellar dysmetria D002524||cerebellar dysmetrias D002524||cerebellar hemiataxia D002524||cerebellar hemiataxias D002524||cerebellar incoordination D002524||cerebellar incoordinations D002524||dysmetria D002524||dysmetria cerebellar D002524||dysmetrias D002524||dysmetrias cerebellar D002524||hemiataxia cerebellar D002524||hemiataxias cerebellar D002524||hypermetria D002524||hypermetrias D002524||incoordination cerebellar D002524||incoordinations cerebellar C536444||corneodermatoosseous syndrome C536444||cdo syndrome C536444||corneal dystrophy epithelial and short stature C536444||corneal dystrophy epithelial with skin and skeletal changes C537772||anotia C537772||microtia D002526||cerebellar diseases D002526||cerebellar disease D002526||cerebellar disorder D002526||cerebellar disorders D002526||cerebellar dysfunction D002526||cerebellar dysfunctions D002526||cerebellar syndrome D002526||cerebellar syndromes D002526||cerebellum disease D002526||cerebellum diseases D002526||disease cerebellar D002526||disease cerebellum D002526||disorder cerebellar D002526||dysfunction cerebellar D002526||syndrome cerebellar C537773||ansell bywaters elderking syndrome 257850|C567605||oculodentodigital dysplasia autosomal recessive 257850|C567605||oculodentoosseous dysplasia autosomal recessive 257850|C567605||oddd autosomal recessive 257850|C567605||odod autosomal recessive 605355|C538397||nemaline myopathy 5 605355|C538397||amish nemaline myopathy 605355|C538397||anm 605355|C538397||nem5 605355|C538397||nemaline myopathy amish type 605355|C538397||nemaline myopathy caused by mutation in the troponin t1 gene C549759||phyllodes tumor of the prostate C549759||malignant phyllodes tumor of prostate D015835||ocular motility disorders D015835||brown apos s tendon sheath syndrome D015835||brown tendon sheath syndrome D015835||conjugate gaze spasm D015835||conjugate gaze spasms D015835||convergence excess D015835||convergence excesses D015835||convergence insufficiencies D015835||convergence insufficiency D015835||cyclophoria D015835||cyclophorias D015835||deficiencies smooth pursuit D015835||deficiency smooth pursuit D015835||deviation skew D015835||deviations skew D015835||dyskinesia paroxysmal ocular D015835||dyskinesias paroxysmal ocular D015835||excess convergence D015835||eye motility disorder D015835||eye motility disorders D015835||eye movement disorder D015835||eye movement disorders D015835||gaze spasms conjugate D015835||insufficiencies convergence D015835||insufficiency convergence D015835||internuclear ophthalmoplegia D015835||internuclear ophthalmoplegias D015835||ocular dyskinesia paroxysmal D015835||ocular dyskinesias paroxysmal D015835||ocular motility disorder D015835||ocular torticollis D015835||ophthalmoplegia internuclear D015835||ophthalmoplegias internuclear D015835||opsoclonus D015835||parinaud apos s syndrome D015835||parinauds syndrome D015835||parinaud syndrome D015835||paroxysmal ocular dyskinesia D015835||paroxysmal ocular dyskinesias D015835||pseudoophthalmoplegia D015835||pseudoophthalmoplegias D015835||pursuit deficiencies smooth D015835||pursuit deficiency smooth D015835||skew deviation D015835||skew deviations D015835||smooth pursuit deficiencies D015835||smooth pursuit deficiency D015835||spasm of conjugate gaze D015835||syndrome brown apos s tendon sheath D015835||syndrome parinaud D015835||syndrome parinaud apos s D015835||tendon sheath syndrome of brown D015834||cochlear diseases D015834||cochlear disease D015834||disease cochlear D015834||diseases cochlear 607341|C537067||focal cortical dysplasia of taylor 607341|C537067||cdt 607341|C537067||cdtbc included 607341|C537067||cdtd included 607341|C537067||cortical dysplasia of taylor 607341|C537067||cortical dysplasia of taylor dysplasia only included 607341|C537067||cortical dysplasia of taylor with balloon cells 607341|C537067||cortical dysplasia of taylor with balloon cells included 607341|C537067||cortical dysplasia of taylor without balloon cells included 607341|C537067||fcdt 607341|C537067||focal cortical dysplasia of taylor type iia 607341|C537067||focal cortical dysplasia of taylor type iib 607341|C537067||focal cortical dysplasia of taylor type iib included 607341|C537067||focal cortical dysplasia type 2 607341|C537067||focal cortical dysplasia type ii 607341|C537067||focal cortical dysplasia type ii focal cortical dysplasia of taylor type iia included D015838||chondromatosis synovial D015838||chondromatoses synovial D015838||chondrometaplasias synovial D015838||chondrometaplasia synovial D015838||henderson jones syndrome D015838||osteochondromatoses synovial D015838||osteochondromatosis synovial D015838||reichel apos s syndrome D015838||reichels syndrome D015838||reichel syndrome D015838||syndrome henderson jones D015838||syndrome reichel apos s D015838||synovial chondromatoses D015838||synovial chondromatosis D015838||synovial chondrometaplasia D015838||synovial chondrometaplasias D015838||synovial osteochondromatoses D015838||synovial osteochondromatosis D007898|608207||leishmaniasis visceral D007898|608207||black fever D007898|608207||fever black D007898|608207||kala azar D007898|608207||kala azar susceptibility to 1 D007898|608207||kaza1 D007898|608207||leishmaniasis visceral susceptibility to 1 D007898|608207||visceral leishmaniasis D015837||vestibular diseases D015837||diseases vestibular D015837||disease vestibular D015837||vestibular disease C536436||coffin siris syndrome C536436||fifth digit syndrome C537767||anophthalmia plus syndrome C537767||fryns anophthalmia syndrome C537767||fryns microphthalmia syndrome C537767||microphthalmia with facial clefting C536434||codas syndrome C536434||cerebral ocular dental auricular and skeletal syndrome C536434||cerebral ocular dental auricular skeletal anomalies syndrome C537765||chromosome 6 monosomy 6p23 C537765||deletion 6p23 C537765||monosomy 6p23 C536435||coffin syndrome 1 C536435||dwarfism lean spastic type C536435||lean spastic dwarfism C537766||anonychia onychodystrophy with hypoplasia or absence of distal phalanges C537766||anonychia and absence hypoplasia of distal phalanges C537766||cooks syndrome D015831||osteochondroma D015831||cartilaginous exostoses D015831||cartilaginous exostosis D015831||chondrosteoma D015831||chondrosteomas D015831||exostoses cartilaginous D015831||exostoses osteocartilaginous D015831||exostosis cartilaginous D015831||exostosis osteocartilaginous D015831||osteocartilaginous exostoses D015831||osteocartilaginous exostosis D015831||osteochondromas C537769||anophthalmos with limb anomalies C537769||anophthalmia syndactyly C537769||anophthalmia waardenburg syndrome C537769||anophthalmos syndactyly C537769||microphthalmia with limb anomalies C537769||ophthalmoacromelic syndrome C537769||waardenburg anophthalmia syndrome D001206||ascorbic acid deficiency D001206||ascorbic acid deficiencies D001206||deficiencies ascorbic acid D001206||deficiencies vitamin c D001206||deficiency ascorbic acid D001206||deficiency vitamin c D001206||vitamin c deficiencies D001206||vitamin c deficiency D002539||cerebral arterial diseases D002539||arterial disease cerebral D002539||arterial diseases cerebral D002539||artery disease cerebral D002539||artery diseases cerebral D002539||cerebral arterial disease D002539||cerebral artery disease D002539||cerebral artery diseases D002539||disease cerebral arterial D002539||disease cerebral artery D002539||diseases cerebral arterial D002539||diseases cerebral artery 612372|C567531||major affective disorder 9 612372|C567531||mafd9 C537782||aorta pulmonary artery fistula C537782||aorto pulmonary artery fistula C537782||aortopulmonary fistula 300643|C564467||rolandic epilepsy mental retardation and speech dyspraxia x linked 300643|C564467||resdx D002534||hypoxia brain D002534||anoxia brain D002534||anoxia cerebral D002534||anoxic brain damage D002534||anoxic encephalopathies D002534||anoxic encephalopathy D002534||brain anoxia D002534||brain damage anoxic D002534||brain damage hypoxic D002534||brain hypoxia D002534||cerebral anoxia D002534||cerebral hypoxia D002534||damage anoxic brain D002534||damage hypoxic brain D002534||encephalopathies anoxic D002534||encephalopathies hypoxic D002534||encephalopathy anoxic D002534||encephalopathy hypoxic D002534||hypoxia cerebral D002534||hypoxic brain damage D002534||hypoxic encephalopathies D002534||hypoxic encephalopathy C537785||aortic arch anomaly with peculiar facies and mental retardation C536455||craniofacial dyssynostosis C536455||craniofacial dyssynostosis and short stature C536455||craniofacial dyssynostosis with short stature C536455||craniosynostosis craniofacial dysostosis syndrome D003866||depressive disorder D003866||depression endogenous D003866||depression neurotic D003866||depressions endogenous D003866||depressions neurotic D003866||depressions unipolar D003866||depression unipolar D003866||depressive disorders D003866||depressive neuroses D003866||depressive neurosis D003866||depressive syndrome D003866||depressive syndromes D003866||disorder depressive D003866||disorders depressive D003866||endogenous depression D003866||endogenous depressions D003866||melancholia D003866||melancholias D003866||neuroses depressive D003866||neurosis depressive D003866||neurotic depression D003866||neurotic depressions D003866||syndrome depressive D003866||syndromes depressive D003866||unipolar depression D003866||unipolar depressions C536452||crane heise syndrome C536452||cleft lip palate agenesis of clavicles and cervical vertebrae and talipes equinovarus C537783||loeys dietz syndrome type 2b D002537||intracranial arteriosclerosis D002537||arterioscleroses cerebral D002537||arterioscleroses intracranial D002537||arteriosclerosis cerebral D002537||arteriosclerosis intracranial D002537||atheroscleroses cerebral D002537||atheroscleroses intracranial D002537||atherosclerosis cerebral D002537||atherosclerosis intracranial D002537||cerebral arterioscleroses D002537||cerebral arteriosclerosis D002537||cerebral atheroscleroses D002537||cerebral atherosclerosis D002537||intracranial arterioscleroses D002537||intracranial atheroscleroses D002537||intracranial atherosclerosis C562701||fleck retina of kandori D002532||intracranial aneurysm D002532||aneurysm anterior cerebral artery D002532||aneurysm anterior communicating artery D002532||aneurysm basilar artery D002532||aneurysm berry D002532||aneurysm brain D002532||aneurysm cerebral D002532||aneurysm giant intracranial D002532||aneurysm intracranial D002532||aneurysm intracranial mycotic D002532||aneurysm middle cerebral artery D002532||aneurysm posterior cerebral artery D002532||aneurysm posterior communicating artery D002532||aneurysms basilar artery D002532||aneurysms berry D002532||aneurysms brain D002532||aneurysms cerebral D002532||aneurysms giant intracranial D002532||aneurysms intracranial D002532||aneurysms intracranial mycotic D002532||anterior cerebral artery aneurysm D002532||anterior communicating artery aneurysm D002532||artery aneurysm basilar D002532||artery aneurysms basilar D002532||basilar artery aneurysm D002532||basilar artery aneurysms D002532||berry aneurysm D002532||berry aneurysms D002532||brain aneurysm D002532||brain aneurysms D002532||cerebral aneurysm D002532||cerebral aneurysms D002532||giant intracranial aneurysm D002532||giant intracranial aneurysms D002532||intracranial aneurysm giant D002532||intracranial aneurysms D002532||intracranial aneurysms giant D002532||intracranial mycotic aneurysm D002532||intracranial mycotic aneurysms D002532||middle cerebral artery aneurysm D002532||mycotic aneurysm intracranial D002532||mycotic aneurysms intracranial D002532||posterior cerebral artery aneurysm D002532||posterior communicating artery aneurysm C562700||pupillary membrane persistence of C562705||pituitary dwarfism with large sella turcica C536486|276904||usher syndrome type 1c C536486|276904||ush1c C536486|276904||usher syndrome acadian variety C536486|276904|C564753||usher syndrome type i acadian variety C536486|276904|C564753||usher syndrome type ic D001201||ascites D055673|200990||acrocallosal syndrome D055673|200990||acls D055673|200990||acrocallosal syndromes D055673|200990||hallux duplication postaxial polydactyly and absence of corpus callosum D055673|200990||jbts12 included D055673|200990||joubert syndrome 12 15 digenic included D055673|200990||schinzel acrocallosal syndrome joubert syndrome 12 included D055673|200990||syndrome acrocallosal D055673|200990||syndromes acrocallosal C562709||insulin receptor defect in D014516||ureteral neoplasms D014516||cancer of the ureter D014516||cancer of ureter D014516||cancers ureteral D014516||cancer ureteral D014516||neoplasms of ureter D014516||neoplasms ureteral D014516||neoplasm ureteral D014516||ureteral cancer D014516||ureteral cancers D014516||ureteral neoplasm D014516||ureter cancer D014516||ureter cancer of D014516||ureter cancers D014516||ureter neoplasm D014516||ureter neoplasms D062108||may thurner syndrome D062108||cockett syndrome D062108||compression syndrome iliocaval D062108||compression syndromes iliocaval D062108||iliac vein compression syndrome D062108||iliocaval compression syndrome D062108||iliocaval compression syndromes D062108||syndrome cockett D062108||syndrome iliocaval compression D062108||syndrome may thurner D062108||syndromes iliocaval compression D014515||ureteral diseases D014515||diseases ureteral D014515||disease ureteral D014515||ureteral disease D015845||tonic pupil D015845||adie pupil D015845||adie apos s pupil D015845||adies pupil D015845||myotonic pupil D015845||myotonic pupils D015845||neuropathic tonic pupil D015845||neuropathic tonic pupils D015845||pupil adie D015845||pupil adie apos s D015845||pupil local tonic D015845||pupillotonia D015845||pupillotonias D015845||pupil myotonic D015845||pupil neuropathic tonic D015845||pupils adie apos s D015845||pupils local tonic D015845||pupils myotonic D015845||pupils neuropathic tonic D015845||pupils tonic D015845||pupil tonic D015845||tonic pupil local D015845||tonic pupil neuropathic D015845||tonic pupils D015845||tonic pupils local D015845||tonic pupils neuropathic D014514||ureteral calculi D014514||calculi ureteral D014514||calculus ureteral D014514||ureteral calculus C562708||prolactin deficiency isolated D007625|530000||kearns sayre syndrome D007625|530000||chronic progressive external ophthalmoplegia with myopathy D007625|530000||cpeo with myopathies D007625|530000||cpeo with myopathy D007625|530000||cpeo with ragged red fibers D007625|530000||cytopathy kearn sayre mitochondrial D007625|530000||kearn sayre mitochondrial cytopathy D007625|530000||kearns sayre mitochondrial cytopathy D007625|530000||kearns sayre shy daroff syndrome D007625|530000||kearns syndrome D007625|530000||kearns apos syndrome D007625|530000||kearn syndrome D007625|530000||kss D007625|530000|C540770||mitochondrial cytopathy D007625|530000||mitochondrial cytopathy kearn sayre D007625|530000||myopathies cpeo with D007625|530000||myopathy cpeo with D007625|530000||oculocraniosomatic syndrome D007625|530000||oculocraniosomatic syndromes D007625|530000||ophthalmoplegia pigmentary degeneration of retina and cardiomyopathy D007625|530000||ophthalmoplegia plus syndrome D007625|530000||ophthalmoplegia plus syndromes D007625|530000||ophthalmoplegia progressive external with ragged red fibers D007625|530000||sayre syndrome kearns D007625|530000||syndrome kearns D007625|530000||syndrome kearns apos D007625|530000||syndrome kearns sayre D007625|530000||syndrome kearns sayre shy daroff D007625|530000||syndrome oculocraniosomatic D007625|530000||syndrome ophthalmoplegia plus C566882|265120||surfactant metabolism dysfunction pulmonary 1 C566882|265120||interstitial lung disease due to surfactant protein b deficiency C566882|265120||interstitial lung disease nonspecific due to surfactant protein b deficiency C566882|265120||pulmonary alveolar proteinosis congenital 1 C566882|265120||smdp1 C548420||vascular compression of the duodenum D014518||ureterocele D014518||ureteroceles D014517||ureteral obstruction D014517||obstructions ureteral D014517||obstruction ureteral D014517||ureteral obstructions C537778||antisynthetase syndrome C536448||costocoracoid ligament congenitally short C536448||congenital shortness of the costocoracoid ligament C537779||antithrombin deficiency type 2 C536445||coronal synostosis syndactyly and jejunal atresia C537776||anterior spinal artery stroke D014511||uremia D014511||uremias C536449||cote katsantoni syndrome D015841||enophthalmos D052798||balanitis xerotica obliterans D052798||kraurosis penis D015840||oculomotor nerve diseases D015840||cranial nerve iii diseases D015840||nerve disease oculomotor D015840||nerve diseases oculomotor D015840||nerve disorder oculomotor D015840||nerve disorders oculomotor D015840||nerve palsies oculomotor D015840||nerve palsy oculomotor D015840||nerve paralyses oculomotor D015840||nerve paralysis oculomotor D015840||neuropathies oculomotor D015840||neuropathy oculomotor D015840||oculomotor nerve disease D015840||oculomotor nerve disorder D015840||oculomotor nerve disorders D015840||oculomotor nerve palsies D015840||oculomotor nerve palsy D015840||oculomotor nerve paralyses D015840||oculomotor nerve paralysis D015840||oculomotor neuropathies D015840||oculomotor neuropathy D015840||palsies oculomotor nerve D015840||palsies partial third nerve D015840||palsies third nerve D015840||palsies total third nerve D015840||palsy oculomotor nerve D015840||palsy partial third nerve D015840||palsy third nerve D015840||palsy total third nerve D015840||paralyses oculomotor nerve D015840||paralyses third nerve D015840||paralysis oculomotor nerve D015840||paralysis third nerve D015840||partial third nerve palsies D015840||partial third nerve palsy D015840||third cranial nerve diseases D015840||third nerve palsies D015840||third nerve palsies partial D015840||third nerve palsies total D015840||third nerve palsy D015840||third nerve palsy partial D015840||third nerve palsy total D015840||third nerve paralyses D015840||third nerve paralysis D015840||total third nerve palsies D015840||total third nerve palsy 300630||mental retardation x linked syndromic fried type 300630||mental retardation x linked syndromic 21 300630||mrx59 300630||mrxs21 300630||mrxsf C566277||anonychia ectrodactyly C566278||anonychia with flexural pigmentation C535749|608540||congenital disorder of glycosylation type 1k C535749|608540||cdg1k C535749|608540||cdgik C535749|608540||cdg ik C535749|608540||congenital disorder of glycosylation type ik D064793||teratogenesis C563326|601388||diabetes mellitus insulin dependent 12 C563326|601388||iddm12 C563326|601388||insulin dependent diabetes mellitus 12 D063466||respiratory aspiration of gastric contents C567473|300710||alopecia androgenetic 2 C567473|300710||aga2 D015819||substance abuse intravenous D015819||drug abuse intravenous D015819||drug abuse parenteral D015819||intravenous drug abuse D015819||intravenous substance abuse D015819||parenteral drug abuse 143400|C537373||multicystic renal dysplasia bilateral 143400|C537373||hydronephrosis due to pujo 143400|C537373||mcrd 143400|C537373||mrd 143400|C537373||pelvi ureteric junction obstruction 143400|C537373||pelviureteric junction obstruction 143400|C537373||pujo 609049|C537185||pierson syndrome 609049|C537185||microcoria and congenital nephrotic syndrome 609049|C537185||microcoria congenital nephrotic syndrome 609049|C537185||nephrotic syndrome congenital with ocular abnormalities and congenital myasthenic syndrome C563476|167320||inclusion body myopathy with early onset paget disease and frontotemporal dementia C563476|167320||ibmpfd C563476|167320||ibmpfd1 C563476|167320||inclusion body myopathy with early onset paget disease of bone and or frontotemporal dementia C563476|167320||inclusion body myopathy with early onset paget disease with or without frontotemporal dementia 1 C563476|167320||inclusion body myopathy with paget disease of bone and or frontotemporal dementia C563476|167320||lower motor neuron degeneration with paget like bone disease C563476|167320||msp1 C563476|167320||multisystem proteinopathy 1 C563476|167320||muscular dystrophy limb girdle with paget disease of bone C563476|167320||pagetoid amyotrophic lateral sclerosis C563476|167320||pagetoid neuroskeletal syndrome D015814||ocular hypotension D015814||hypotension ocular D015814||hypotony ocular D015814||ocular hypotony C537707||kallikrein hypertension C537707||kallikrein attenuated hypertension D015812||glaucoma angle closure D015812||angle closure glaucoma D015812||angle closure glaucomas D015812||closed angle glaucoma D015812||closed angle glaucomas D015812||glaucoma closed angle D015812||glaucoma narrow angle D015812||glaucomas angle closure D015812||glaucomas closed angle D015812||glaucomas narrow angle D015812||glaucomas uncompensated D015812||glaucomas uncompensative D015812||glaucoma uncompensated D015812||glaucoma uncompensative D015812||narrow angle glaucoma D015812||narrow angle glaucomas D015812||uncompensated glaucoma D015812||uncompensated glaucomas D015812||uncompensative glaucoma D015812||uncompensative glaucomas C537708||kifafa seizure disorder C537708||complex familial seizure disorder C537708||vitsala D015811||iris neoplasms D015811||iris neoplasm D015811||neoplasm iris D015811||neoplasms iris D015818||eye infections bacterial D015818||bacterial eye infection D015818||bacterial eye infections D015818||bacterial ocular infection D015818||bacterial ocular infections D015818||eye infection bacterial D015818||infection bacterial eye D015818||infection bacterial ocular D015818||infections bacterial eye D015818||infections bacterial ocular D015818||ocular infection bacterial D015818||ocular infections bacterial D015817||eye infections D015817||eye infection D015817||infection eye D015817||infection ocular D015817||infections eye D015817||infections ocular D015817||ocular infection D015817||ocular infections D007706|309400||menkes kinky hair syndrome D007706|309400||congenital hypocupremia D007706|309400||congenital hypocupremias D007706|309400||copper transport disease D007706|309400||diseases kinky hair D007706|309400||diseases menkes apos D007706|309400||diseases steely hair D007706|309400||disease steely hair D007706|309400||hair diseases kinky D007706|309400||hair diseases steely D007706|309400||hypocupremia congenital D007706|309400||hypocupremias congenital D007706|309400||kinky hair disease D007706|309400||kinky hair diseases D007706|309400||kinky hair syndrome D007706|309400||menkea syndrome D007706|309400||menkea syndromes D007706|309400||menkes disease D007706|309400||menkes apos disease D007706|309400||menkes apos diseases D007706|309400||menkes syndrome D007706|309400||mk D007706|309400||mnk D007706|309400||steely hair disease D007706|309400||steely hair diseases D007706|309400||steely hair syndrome D007706|309400||steely hair syndromes D007706|309400||syndrome menkea D007706|309400||syndromes menkea D007706|309400||syndromes steely hair D007706|309400||syndrome steely hair D007706|309400||x linked copper deficiency C537701|239000||hyperostosis corticalis deformans juvenilis C537701||chronic congenital idiopathic hyperphosphatasemia C537701||familial idiopathic hyperphosphatasemia C537701||familial osteoectasia C537701|239000||hyperphosphatasemia chronic congenital idiopathic C537701||hyperphosphatasemia with bone disease C537701|239000||hyperphosphatasia familial idiopathic C537701||idiopathic hyperphosphatasia C537701|239000||juvenile paget disease C537701||juvenile paget apos s disease C537701||osteochalasia desmalis familiaris C537701|239000||osteoectasia familial C537701||osteoectasia with hyperphosphatasia C535755|266265||congenital disorder of glycosylation type 2c C535755|266265||cdg2c C535755|266265||cdgiic C535755|266265||cdg iic C535755|266265||congenital disorder of glycosylation type iic C535755|266265||lad2 C535755|266265||leukocyte adhesion deficiency type 2 C535755|266265||leukocyte adhesion deficiency type ii C535755|266265||rambam hasharon syndrome C535755|266265|C535289|129400||rhs D051474||neuralgia postherpetic D051474||postherpetic neuralgia C537700||juvenile osteoporosis C537700||childhood onset primary osteoporosis C537700||idiopathic juvenile osteoporosis C537700||juvenile primary osteoporosis C537700||osteoporosis juvenile C566287||anal sphincter myopathy internal C566287||proctalgia fugax due to anal sphincter myopathy C566280||aniridia microcornea and spontaneously reabsorbed cataract C566281||aniridia and absent patella C537703||juvenile systemic scleroderma C566282||spinal arterial venous malformations with cutaneous hemangiomas C566283||hemangiomatosis disseminated C566288||frontotemporal dementia with motor neuron disease C537720||macrodactyly of the hand C537720||megalodactylism of the hand C537720||megalodactyly of the hand C537718||volcke soekarman syndrome D015823||acanthamoeba keratitis D015823||acanthamoeba keratitides D015823||keratitides acanthamoeba D015823||keratitis acanthamoeba C536842|133100||polycythemia primary familial and congenital C536842|133100||benign familial polycythemia C536842|133100||congenital erythrocytosis C536842|133100||ecyt1 C536842|133100||erythrocytosis autosomal dominant benign C536842|133100||erythrocytosis familial 1 C536842|133100||familial erythrocytosis C536842|133100||familial erythrocytosis 1 C536842|133100||familial polycythemia C536842|133100||hereditary erythrocytosis C536842|133100||pfcp C536842|133100||primary familial polycythemia C537719||macrodactyly of the foot C537719||megalodactylism of the foot C537719||megalodactyly of the foot C566290||amyotrophic lateral sclerosis autosomal recessive D015822||eye infections parasitic D015822||eye infection parasitic D015822||infection parasitic eye D015822||infection parasitic ocular D015822||infections parasitic eye D015822||infections parasitic ocular D015822||ocular infection parasitic D015822||ocular infections parasitic D015822||parasitic eye infection D015822||parasitic eye infections D015822||parasitic ocular infection D015822||parasitic ocular infections D015829||uveitis suppurative D015829||suppurative uveitides D015829||suppurative uveitis D015829||uveitides suppurative D015828||eye infections viral D015828||eye infection viral D015828||infections viral eye D015828||infections viral ocular D015828||infection viral eye D015828||infection viral ocular D015828||ocular infections viral D015828||ocular infection viral D015828||viral eye infection D015828||viral eye infections D015828||viral ocular infection D015828||viral ocular infections D015827||onchocerciasis ocular D015827||blindness river D015827||ocular onchocerciases D015827||ocular onchocerciasis D015827||onchocerciases ocular D015827||river blindness C566295||amastia bilateral with ureteral triplication and dysmorphism C537713||lynch lee murday syndrome C537713||caudal appendage short terminal phalanges deafness cryptorchidism and mental retardation 425500|C564029||hairy ears y linked 425500|C564029||hypertrichosis pinnae auris y linked C537711||lymphedema microcephaly and chorioretinopathy syndrome C537711||chorioretinal dysplasia microcephaly mental retardation syndrome C537711||lymphedema and retinal folds with microcephaly and microphthalmos C537711||lymphedema microcephaly chorioretinopathy syndrome C537711||microcephaly lymphedema chorioretinal dysplasia C537711||microcephaly lymphedema chorioretinal dysplasia syndrome C566298||alzheimer disease familial 1 C537716||macrocephaly mesodermal hamartoma spectrum C537716||elattoproteus syndrome C537716||gigantism partial of hands and feet nevi hemihypertrophy and macrocephaly C537716||hemihypertrophy and macrocephaly C537716||partial gigantism of hands and feet nevi hemihypertrophy macrocephaly C566291||amyotrophic lateral sclerosis sporadic D015821||eye infections fungal D015821||eye infection fungal D015821||fungal eye infection D015821||fungal eye infections D015821||fungal ocular infection D015821||fungal ocular infections D015821||infection fungal eye D015821||infection fungal ocular D015821||infection ocular mycotic D015821||infections fungal eye D015821||infections fungal ocular D015821||infections ocular mycotic D015821||mycoses ocular D015821||mycosis ocular D015821||mycotic infection ocular D015821||mycotic infections ocular D015821||ocular infection fungal D015821||ocular infections fungal D015821||ocular mycoses D015821||ocular mycosis D015821||ocular mycotic infection D015821||ocular mycotic infections D015821||oculomycoses D015821||oculomycosis C537717||macrocephaly benign familial C537717||benign familial macrocephaly C537717||benign familial megalencephaly C537717||cole hughes syndrome C566292||amyotrophic dystonic paraplegia C537714||macdermot winter syndrome C537714||prominent glabella microcephaly hypogenitalism 605259|C537195||spinocerebellar ataxia 13 605259|C537195||autosomal dominant cerebellar ataxia with mental retardation 605259|C537195||cerebellar ataxia autosomal dominant with mental retardation 605259|C537195||sca13 C537715||macleod fraser syndrome C566294||amelia and terminal transverse hemimelia D017681|607685||hypereosinophilic syndrome D017681|607685||endocarditis loeffler D017681|607685||endocarditis loefflers D017681|607685||endocarditis loeffler apos s D017681|607685||eosinophilic leukemia D017681|607685||eosinophilic leukemias D017681|607685||hes D017681|607685||hypereosinophilic syndrome idiopathic D017681|607685||hypereosinophilic syndromes D017681|607685||hypereosinophilic syndromes idiopathic D017681|607685||idiopathic hypereosinophilic syndrome D017681|607685||idiopathic hypereosinophilic syndromes D017681|607685||leukemia eosinophilic D017681|607685||leukemias eosinophilic D017681|607685||loeffler endocarditis D017681|607685||loeffler apos s endocarditis D017681|607685||loefflers endocarditis D017681|607685||syndrome hypereosinophilic D017681|607685||syndrome idiopathic hypereosinophilic D017681|607685||syndromes hypereosinophilic D017681|607685||syndromes idiopathic hypereosinophilic C566255||cardiomyopathy right ventricular dilated C567586||mental retardation x linked syndromic zdhhc9 related C566256||arrhenoblastoma thyroid adenoma D020391||muscular dystrophy facioscapulohumeral D020391||atrophies facioscapulohumeral D020391||atrophy facioscapulohumeral D020391||dystrophies facioscapulohumeral muscular D020391||dystrophies landouzy dejerine D020391||dystrophy facioscapulohumeral muscular D020391||dystrophy landouzy dejerine D020391||facioscapulohumeral atrophies D020391||facioscapulohumeral atrophy D020391||facio scapulo humeral dystrophy D020391||facioscapulohumeral muscular dystrophies D020391||facioscapulohumeral type progressive muscular dystrophy D020391||facioscapuloperoneal muscular dystrophy D020391||fsh muscular dystrophy D020391||landouzy dejerine dystrophies D020391||landouzy dejerine dystrophy D020391||muscular dystrophies facioscapulohumeral D020391||muscular dystrophy landouzy dejerine D020391||progressive muscular dystrophy facioscapulohumeral type 613790||complement component 8 deficiency type i 613790||c8ag deficiency 613790||c8 alpha gamma deficiency 613790||c8d1 613790||c8 deficiency type i C566258||arms malformation of C536081|236800||hydroxykynureninuria C536081|236800||kynureninase deficiency C536081|236800||xanthurenic aciduria 613792||chromosome 3pter p25 deletion syndrome 613792||3p syndrome D063485||acanthocheilonemiasis D063485||acanthocheilonemiases C564174|143850||orthostatic hypotensive disorder streeten type C564174|143850||hyperbradykininism C564174|143850||ohds C564174|143850||orthostatic hypotensive disorder 612459||body mass index quantitative trait locus 13 612459||bmiq13 D006099||granuloma D006099||granulomas 613789||complement component 8 deficiency type ii 613789||c8b deficiency 613789||c8 beta deficiency 613789||c8d2 613789||c8 deficiency type ii 613789||complement component 8b deficiency C536652|260800||pentosuria C536652|260800||l xylulose reductase deficiency C536652|260800||l xylulosuria C536652|260800||pntsu C536652|260800||xylitol dehydrogenase deficiency 144750|C536748||worth syndrome 144750|C536748||benign hyperostosis corticalis generalisata 144750|C536748||endosteal hyperostosis autosomal dominant 144750|C536748||endosteal hyperostosis worth type 144750|C536748||hyperostosis corticalis generalisata benign form of worth with torus palatinus 144750|C536748||hyperostosis corticalis generalisata congenita 144750|C536748||osteosclerosis autosomal dominant 144750|C536748||osteosclerosis autosomal dominant worth type with torus palatinus 300843|C564092||bornholm eye disease 300843|C564092||bed 300843|C564092||myopia high with nonprogressive cone dysfunction 612460||body mass index quantitative trait locus 14 612460||bmiq14 C566262||familial hyperbeta and prebetalipoproteinemia C565798|604302||rheumatoid arthritis systemic juvenile C565798|604302||systemic juvenile rheumatoid arthritis C567593||primary ovarian insufficiency fragile x associated C567593||fragile x premature ovarian failure C580551||y chromosome infertility C580551||y chromosome related azoospermia C566263||hyperlipemia with familial hypercholesterolemic xanthomatosis C567596||mineralocorticoid deficiency isolated C537721||macroepiphyseal dysplasia mcalister coe type C537721||macroepiphyseal dysplasia with osteoporosis wrinkled skin and aged appearance C537721||mcalister coe whyte syndrome C566264||broad betalipoproteinemia C537722||macrogyria pseudobulbar palsy and mental retardation C537722||kuzniecky andermann syndrome C566265||floating betalipoproteinemia C567582|300804||joubert syndrome 10 C567582|300804||jbts10 C537725||lung agenesis C537725||congenital lung agenesis C537725||pulmonary agenesis C537725||unilateral lobar pulmonary agenesis C537725||unilateral lung agenesis C566260||apolipoprotein e deficiency or defect of C567591||emery dreifuss muscular dystrophy 6 x linked C567591||emery dreifuss muscular dystrophy 6 C537726||lutz richner landolt syndrome C537726||biliary malformation with renal tubular insufficiency C537726||cholestatic jaundice and renal tubular insufficiency C537726||renal tubular insufficiency cholestatic jaundice and multiple congenital anomalies C566261||dysbetalipoproteinemia due to defect in apolipoprotein e d D020386||isaacs syndrome D020386||acquired neuromyotonia D020386||continuous muscle activity syndrome D020386||continuous myokymia D020386||continuous myokymias D020386||gamstorp wohlfart syndrome D020386||gamstorp wohlfart syndromes D020386||isaacs mertens syndrome D020386||isaacs pseudomyotonia syndrome D020386||isaacs apos syndrome D020386||isaac syndrome D020386||myokymia continuous D020386||myokymia myotonia muscle wasting and hyperhidrosis D020386||myokymias continuous D020386||neuromyotonia D020386||neuromyotonia acquired D020386||pseudomyotonia D020386||pseudomyotonia syndrome of isaacs D020386||quantal squander D020386||syndrome of continuous muscle activity D020386||syndromes gamstorp wohlfart D020386||syndromes isaacs mertens D018088||tuberculosis multidrug resistant D018088||drug resistant tuberculosis D018088||mdr tuberculosis D018088||multidrug resistant tuberculosis D018088||multi drug resistant tuberculosis D018088||tuberculosis drug resistant D018088||tuberculosis mdr D018088||tuberculosis multi drug resistant D020385||myokymia D020385||chorea fibrillary D020385||chorea morvan D020385||chorea morvan apos s D020385||chorea morvan apos s fibrillary D020385||choreas fibrillary D020385||choreas morvan D020385||choreas morvan apos s D020385||fibrillary chorea D020385||fibrillary chorea morvan apos s D020385||fibrillary choreas D020385||generalized myokymia D020385||generalized myokymias D020385||kymatism D020385||kymatisms D020385||morvan chorea D020385||morvan choreas D020385||morvan fibrillary chorea D020385||morvan apos s chorea D020385||morvans chorea D020385||morvan apos s choreas D020385||morvan apos s fibrillary chorea D020385||morvans fibrillary chorea D020385||myokymia generalized D020385||myokymias D020385||myokymias generalized C562509|119500||popliteal pterygium syndrome C562509|119500||cleft lip palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies C562509|119500||faciogenitopopliteal syndrome C562509|119500||facio genito popliteal syndrome C562509|119500||pps C536410||neural tube defects x linked C536410||anencephaly spina bifida C537741||odontomicronychial dysplasia C567597||46 xx gonadal dysgenesis partial or complete autosomal C567597||xx male syndrome sry negative C566267||hypobetalipoproteinemia familial C566267||acanthocytosis with hypobetalipoproteinemia C566267||hypobetalipoproteinemia familial 1 C566267||hypobetalipoproteinemia normotriglyceridemic 180849|D012415||rubinstein taybi syndrome 180849|D012415||broad thumb hallux syndrome 180849|D012415||broad thumb hallux syndromes 180849|D012415||broad thumbs and great toes characteristic facies and mental retardation 180849|D012415||rsts1 180849|D012415||rsts2 180849|D012415||rubinstein syndrome 180849|D012415||rubinstein taybi syndrome 1 180849|D012415||rubinstein taybi syndrome 2 180849|D012415||syndrome broad thumb hallux 180849|D012415||syndrome rubinstein 180849|D012415||syndrome rubinstein taybi 180849|D012415||syndromes broad thumb hallux C565723|609757||williams beuren region duplication syndrome C565723|609757||chromosome 7q11 23 duplication syndrome C565723|609757||chromosome 7q11 23 triplication syndrome included C565723|609757||somerville van der aa syndrome wbs triplication syndrome included C565723|609757||wbs duplication syndrome C537740||odontoma dysphagia syndrome C537740||boder syndrome C537740||odontomatosis multiple odontomas with dysphagia D049188||prenatal injuries D049188||injuries prenatal D049188||injury prenatal D049188||prenatal injury C565046|132450||epiphyseal dysplasia multiple with myopia and conductive deafness C565046|132450||edmmd C565775|604401||arrhythmogenic right ventricular dysplasia familial 6 C565775|604401||arrhythmogenic right ventricular cardiomyopathy 6 C565775|604401||arvc6 C565775|604401||arvd6 C563753|609270||spinocerebellar ataxia autosomal recessive 7 C563753|609270||scar7 613779||c3d D015807||eye injuries penetrating D015807||eye injury penetrating D015807||injuries penetrating eye D015807||injury penetrating eye D015807||penetrating eye injuries D015807||penetrating eye injury D050171||dyslipidemias D050171||dyslipidemia D050171||dyslipoproteinemia D050171||dyslipoproteinemias D050174||genetic diseases y linked D050174||diseases y linked genetic D050174||disease y linked genetic D050174||genetic diseases y chromosome linked D050174||genetic disease y linked D050174||y linked genetic disease D050174||y linked genetic diseases C536403||nephrotic syndrome ocular anomalies C536403||familial infantile nephrotic syndrome with ocular abnormalities C536403||glastre cochat bouvier syndrome C566273||alpha 1 antitrypsin deficiency autosomal recessive C566273|D019896|613490||alpha 1 antitrypsin deficiency C566273||alpha 1 protease inhibitor deficiency C566273||alpha 1 related emphysema C566273||genetic emphysema C566273||hereditary pulmonary emphysema C566273||inherited emphysema C563311|601457||severe combined immunodeficiency autosomal recessive t cell negative b cell negative nk cell positive C563311|601457||scid t cell negative b cell negative nk cell positive D020191|125370||myoclonic epilepsies progressive D020191|125370|254900||action myoclonus renal failure syndrome D020191|125370||ataxia chorea seizures and dementia D020191|125370||atrophies dentatorubral pallidoluysian D020191|125370||atrophy dentatorubral pallidoluysian D020191|125370||atypical inclusion body disease D020191|125370||atypical inclusion body diseases D020191|125370||biotin responsive encephalopathies D020191|125370||biotin responsive encephalopathy D020191|125370||dentatorubral pallidoluysian atrophies D020191|125370||dentatorubral pallidoluysian atrophy D020191|125370||disease atypical inclusion body D020191|125370||disease naito oyanagi D020191|125370||diseases atypical inclusion body D020191|125370||diseases naito oyanagi D020191|125370||drpla D020191|125370||encephalopathies biotin responsive D020191|125370||encephalopathy biotin responsive D020191|125370||epilepsies progressive myoclonic D020191|125370||epilepsies progressive myoclonus D020191|125370||epilepsy progressive myoclonic D020191|125370||epilepsy progressive myoclonus D020191|125370||familial progressive myoclonic epilepsy D020191|125370||haw river syndrome D020191|125370||haw river syndromes D020191|125370||hrs D020191|125370||inclusion body disease atypical D020191|125370||inclusion body diseases atypical D020191|125370||may white syndrome D020191|125370||myoclonic epilepsy progressive D020191|125370|C538427||myoclonic epilepsy with choreoathetosis D020191|125370||myoclonus epilepsies progressive D020191|125370|254900||myoclonus nephropathy syndrome D020191|125370||myoclonus nephropathy syndromes D020191|125370||naito oyanagi disease D020191|125370||naito oyanagi diseases D020191|125370||nod D020191|125370||oyanagi disease naito D020191|125370||progressive myoclonic epilepsies D020191|125370||progressive myoclonus epilepsies D020191|125370||progressive myoclonus epilepsy D020191|125370||river syndrome haw D020191|125370||river syndromes haw D020191|125370||syndrome haw river D020191|125370||syndrome myoclonus nephropathy D020191|125370||syndromes haw river D020191|125370||syndromes myoclonus nephropathy C536401||nephropathy deafness hyperparathyroidism C536401||nephropathy deafness and hyperparathyroidism C537732||oculodental syndrome rutherfurd syndrome C537732||corneal dystrophy with gum hypertrophy C537732||gingival hypertrophy corneal dystrophy C537732||gingival hypertrophy with corneal dystrophy C537732||rutherfurd syndrome C566275||antibody deficiency due to defect in cd19 D018232|268220||rhabdomyosarcoma alveolar D018232|268220||alveolar rhabdomyosarcoma D018232|268220||alveolar rhabdomyosarcomas D018232|268220||rhabdomyosarcoma 2 D018232|268220||rhabdomyosarcomas alveolar D018232|268220||rms2 D018232|268220||rmsa C536402||nephrosis deafness urinary tract digital malformation C536402||nephrosis with deafness and urinary tract and digital malformations C537733||oculodentoosseous dysplasia recessive D050177||overweight C536407||neuhauser eichner opitz syndrome C536407||encephalopathy recurrent of childhood C537738||oculopalatoskeletal syndrome C537738||craniosynostosis with lid anomalies C537738||michels syndrome C536408||neural crest tumor C536408||neural crest derived tumors C537739||oculorenocerebellar syndrome C566270||apolipoprotein c iii deficiency C536405||neu laxova syndrome C537736||oculomaxillofacial dysostosis C537736||oblique facial clefts C537736||oculomaxillofacial dysplasia with oblique facial clefts C537736||richieri costa gorlin syndrome C566271||aortic arch interruption facial palsy and retinal coloboma C536406||neuhauser daly magnelli syndrome C536406||essential tremors nystagmus and duodenal ulceration C536406||tremor nystagmus and duodenal ulcer C536406||tremor nystagmus duodenal ulcer C536406||tremors nystagmus and duodenal ulcers C537737||oculomelic amyoplasia C537737||arthrogryposis distal type 5 C537737||arthrogryposis distal type iib C537737||arthrogryposis with oculomotor limitation and electroretinal abnormalities C566272||townes brocks branchiootorenal like syndrome C566237||atrial tachyarrhythmia with short pr interval C567568||hypoglossia isolated C566238||atrial septal defect with atrioventricular conduction defects C566238||asd with atrioventricular conduction defects D012618|269600||sea blue histiocyte syndrome D012618|269600||disease sea blue histiocyte D012618|269600||diseases sea blue histiocyte D012618|269600||histiocyte disease sea blue D012618|269600||histiocyte diseases sea blue D012618|269600||histiocyte syndrome sea blue D012618|269600||histiocyte syndromes sea blue D012618|269600||histiocytoses sea blue D012618|269600||histiocytosis sea blue D012618|269600||sea blue histiocyte disease D012618|269600||sea blue histiocyte diseases D012618|269600||sea blue histiocyte syndromes D012618|269600||sea blue histiocytoses D012618|269600||sea blue histiocytosis D012618|269600||syndrome sea blue histiocyte D012618|269600||syndromes sea blue histiocyte C566233||azotemia familial D020370||osteoarthritis knee D020370||knee osteoarthritides D020370||knee osteoarthritis D020370||knee osteoarthritis of D020370||knees osteoarthritis of D020370||osteoarthritides knee D020370||osteoarthritis of knees C566415|603034||endplate acetylcholinesterase deficiency C566415|603034||cms1c C566415|603034||cms ic C566415|603034||congenital myasthenic syndrome type ic C566415|603034||ead C566415|603034||engel congenital myasthenic syndrome C566415|603034||myasthenic syndrome congenital engel type C566234||axenfeld rieger anomaly with partially absent eye muscles distinctive face hydrocephaly and skeletal abnormalities C566234||de hauwere syndrome C566234||iris dysplasia with ocular hypertelorism psychomotor retardation and sensorineural deafness C567567||hypoglossia with situs inversus C566235||aurocephalosyndactyly C566235||auralcephalosyndactyly C567566||hypotonia seizures and precocious puberty C563561|158590||neuropathy distal hereditary motor type iia C563561|158590||charcot marie tooth disease spinal iia C563561|158590||dhmn2a C563561|158590||hmn2a C563561|158590||hmn iia C563561|158590||neuronopathy distal hereditary motor type iia C563561|158590||spinal muscular atrophy distal adult autosomal dominant iia 551000||mitochondrial myopathy lethal infantile 551000||limm 613776||chromosome 17p13 1 deletion syndrome D006069||gonorrhea D006069||gonorrheas C580539||x linked infantile nystagmus C580539||congenital motor nystagmus C580539||frmd7 related infantile nystagmus C580539||idiopathic infantile nystagmus C580539|C537853|310700||nys1 C580539||x linked congenital nystagmus C580539||x linked idiopathic infantile nystagmus D006073||gout D006073||gouts C567459|611907||episodic ataxia type 7 C567459|611907||ea7 C580533||x linked chondrodysplasia punctata 1 C580533||arylsulfatase e deficiency C580533||chondrodysplasia punctata 1 x linked C580533||x linked recessive chondrodysplasia punctata 1 C566240||atrial septal defect primum type C567571||vitamin d dependent rickets type 2b with normal vitamin d receptor C567571||vddr2b C566241||atrial septal defect secundum type C567574||46 xy gonadal dysgenesis complete sry related C567574||gonadal dysgenesis xy female type C536293|213300||joubert syndrome 1 C536293|213300||cerebellar vermis agenesis C536293|213300||cerebellooculorenal syndrome 1 C536293|213300||cerebelloparenchymal disorder 4 C536293|213300||cerebelloparenchymal disorder iv C536293|213300||cors1 C536293|213300||cpd4 C536293|213300||jbts C536293|213300||jbts1 C536293|213300||joubert boltshauser syndrome C536293|213300||joubert syndrome C567570||mitchell riley syndrome 270550|C536787||spastic ataxia charlevoix saguenay type 270550|C536787||arsacs 270550|C536787||autosomal recessive spastic ataxia of charlevoix saguenay 270550|C536787||charlevoix saguenay spastic ataxia 270550|C536787||sacs 270550|C536787||spastic ataxia 6 autosomal recessive 270550|C536787||spastic ataxia of charlevoix saguenay 270550|C536787||spax6 D020364||paraneoplastic polyneuropathy D020364||neuropathies paraneoplastic D020364||neuropathies paraneoplastic peripheral D020364||neuropathy paraneoplastic D020364||neuropathy paraneoplastic peripheral D020364||paraneoplastic neuropathies D020364||paraneoplastic neuropathy D020364||paraneoplastic peripheral neuropathies D020364||paraneoplastic peripheral neuropathy D020364||paraneoplastic polyneuropathies D020364||peripheral neuropathies paraneoplastic D020364||peripheral neuropathy paraneoplastic D020364||polyneuropathies paraneoplastic D020364||polyneuropathy paraneoplastic D003803||dentigerous cyst D003803||cyst dentigerous D003803||cysts dentigerous D003803||dentigerous cysts C566248||asymmetric short stature syndrome D020363||limbic encephalitis D020363||encephalitides paraneoplastic limbic D020363||encephalitis limbic D020363||encephalitis paraneoplastic limbic D020363||limbic encephalitis paraneoplastic D020363||paraneoplastic limbic encephalitis C567579||glycogen storage disease type ixa2 C567579||gsd9a2 C567579||gsd ixa2 D020362||paraneoplastic cerebellar degeneration D020362||anti yo associated paraneoplastic cerebellar degeneration D020362||cerebellar degeneration paraneoplastic D020362||cerebellar syndrome paraneoplastic D020362||cerebellar syndromes paraneoplastic D020362||degeneration paraneoplastic cerebellar D020362||paraneoplastic cerebellar degeneration anti yo associated D020362||paraneoplastic cerebellar syndrome D020362||paraneoplastic cerebellar syndromes D003805||dentin dysplasia D003805||dentin dysplasias D003805||dysplasia dentin D003805||dysplasias dentin D020361||paraneoplastic syndromes nervous system D020361||autonomic dysfunction paraneoplastic D020361||autonomic dysfunctions paraneoplastic D020361||encephalomyelitis paraneoplastic D020361||nervous system paraneoplastic syndromes D020361||neurologic syndrome paraneoplastic D020361||neurologic syndromes paraneoplastic D020361||paraneoplastic autonomic dysfunction D020361||paraneoplastic autonomic dysfunctions D020361||paraneoplastic encephalomyelitides D020361||paraneoplastic encephalomyelitis D020361||paraneoplastic neurologic syndrome D020361||paraneoplastic neurologic syndromes D020361||syndrome paraneoplastic neurologic D020361||syndromes paraneoplastic neurologic C567576||rett syndrome atypical C567575||46 xy true hermaphroditism sry related C566245||external auditory canal bilateral atresia of with congenital vertical talus C566245||atresia of external auditory canal and conduction deafness C567578||frontootopalatodigital osteodysplasia C566246||ataxia with fasciculations C567577||otopalatodigital spectrum disorder C566247||ataxia spastic with congenital miosis C566247||miosis congenital with spastic ataxia 192605|C536334||ventricular tachycardia familial 192605|C536334||ventricular tachycardia familial polymorphic C565593|225790||encephaloclastic proliferative vasculopathy C565593|225790||epv C565593|225790||hydranencephaly fowler type C565593|225790||hydrocephaly hydranencephaly due to cerebral vasculopathy C565593|225790||proliferative vasculopathy and hydranencephaly hydrocephaly syndrome C565593|225790||pvhh D045602||steatorrhea 607078|C535505||epiphyseal dysplasia multiple 5 607078|C535505||bhmed 607078|C535505||edm5 607078|C535505||microepiphyseal dysplasia bilateral hereditary 607078|C535505||multiple epiphyseal dysplasia 5 607078|C535505||multiple epiphyseal dysplasia matn3 related C562687|222700||lysinuric protein intolerance C562687|222700||dibasic amino aciduria ii C562687|222700||hyperdibasic aminoaciduria C562687|222700||lpi C562687|222700||lpi lysinuric protein intolerance 127750|D020961||lewy body disease 127750|D020961||cortical lewy body disease 127750|D020961||dementia lewy body 127750|D020961||diffuse lewy body disease 127750|D020961||diffuse lewy body disease diffuse lewy body disease with gaze palsy included 127750|D020961||dlb 127750|D020961||lewy body dementia 127750|D020961||lewy body disease cortical 127750|D020961||lewy body disease diffuse 127750|D020961||lewy body type senile dementia 127750|D020961||lewy body variant of alzheimer disease included C567833|612989||optic atrophy 7 C567833|612989||opa7 D006086||graft vs host disease D006086||disease graft versus host D006086||disease graft vs host D006086||disease homologous wasting D006086||disease runt D006086||diseases graft versus host D006086||diseases graft vs host D006086||graft versus host disease D006086||graft versus host diseases D006086||graft vs host diseases D006086||homologous wasting disease D006086||runt disease 612433||deafness autosomal recessive 45 612433||dfnb45 612431||deafness autosomal dominant 27 612431||dfna27 D006083||graft occlusion vascular D006083||graft restenoses vascular D006083||graft restenosis vascular D006083||occlusion vascular graft D006083||restenosis vascular graft D006083||vascular graft occlusion D006083||vascular graft restenosis C537564|156400||jansen type metaphyseal chondrodysplasia C537564|156400||metaphyseal chondrodysplasia jansen type C537564|156400||metaphyseal chondrodysplasia murk jansen type C537564|156400||murk jansen type metaphyseal chondrodysplasia C567583||mental retardation x linked znf711 related C567583||mental retardation x linked 97 C567585||chromosome xp11 23 p11 22 duplication syndrome C566253||arteritis familial granulomatous with juvenile polyarthritis C567584||mental retardation x linked syp related C567584||mrxsyp C566646|601650||paragangliomas 2 C566646|601650||glomus tumors familial 2 C566646|601650||pgl2 D003807||dentin sensitivity D003807||dentine hypersensitivities D003807||dentine hypersensitivity D003807||dentine sensitivities D003807||dentine sensitivity D003807||dentin hypersensitivities D003807||dentin hypersensitivity D003807||dentin sensitivities D003807||hypersensitivities dentin D003807||hypersensitivities dentine D003807||hypersensitivity dentin D003807||hypersensitivity dentine D003807||sensitivities dentin D003807||sensitivities dentine D003807||sensitivity dentin D003807||sensitivity dentine D018058||tympanic membrane perforation D018058||eardrum perforation D018058||membrane perforation tympanic D018058||membrane rupture tympanic D018058||perforation eardrum D018058||rupture tympanic membrane D018058||tympanic membrane rupture 253800||muscular dystrophy dystroglycanopathy congenital with brain and eye anomalies type a 4 253800||fcmd 253800|D058494|236670||fukuyama congenital muscular dystrophy 253800||mddga4 253800||walker warburg syndrome or muscle eye brain disease fktn related D003809||dentin secondary D003809||dentins secondary D003809||secondary dentin D003809||secondary dentins C536096|159900||myoclonic dystonia C536096|159900||alcohol responsive dystonia C536096|159900||dystonia 11 C536096|159900||dystonia alcohol responsive C536096|159900||dyt11 C536096|159900||hereditary essential myoclonus C536096|159900||myoclonus dystonia C536096|159900||myoclonus dystonia syndrome C536096|159900||myoclonus hereditary essential C567580||chromosome xq28 duplication syndrome C567580||gdi1 duplication syndrome C566250||aryl hydrocarbon hydroxylase inducibility C566250||ahh inducibility C567547||corneal dystrophy subepithelial mucinous C567547||subepithelial mucinous corneal dystrophy C567546||corneal dystrophy posterior amorphous C567546||posterior amorphous corneal dystrophy 611247|C567073||major affective disorder 4 611247|C567073||mafd4 143465|D001289||attention deficit disorder with hyperactivity 143465|D001289||adhd 143465|D001289||adhd1 143465|D001289||adhd2 143465|D001289||adhd3 143465|D001289||adhd4 143465|D001289||adhd5 143465|D001289||adhd6 143465|D001289||adhd7 143465|D001289||attention deficit disorder 143465|D001289||attention deficit disorders 143465|D001289||attention deficit disorders with hyperactivity 143465|D001289||attention deficit hyperactivity disorder 143465|D001289||attention deficit hyperactivity disorders 143465|D001289||attention deficit hyperactivity disorder susceptibility to 1 143465|D001289||attention deficit hyperactivity disorder susceptibility to 2 143465|D001289||attention deficit hyperactivity disorder susceptibility to 3 143465|D001289||attention deficit hyperactivity disorder susceptibility to 4 143465|D001289||attention deficit hyperactivity disorder susceptibility to 5 143465|D001289||attention deficit hyperactivity disorder susceptibility to 6 143465|D001289||attention deficit hyperactivity disorder susceptibility to 7 143465|D001289||brain dysfunction minimal 143465|D001289||deficit disorder attention 143465|D001289||deficit disorders attention 143465|D001289||deficit hyperactivity disorder attention 143465|D001289||deficit hyperactivity disorders attention 143465|D001289||digit span quantitative trait locus 143465|D001289||disorder attention deficit 143465|D001289||disorder attention deficit hyperactivity 143465|D001289||disorders attention deficit 143465|D001289||disorders attention deficit hyperactivity 143465|D001289||dysfunction minimal brain 143465|D001289||hyperactivity of childhood 143465|D001289||hyperkinetic syndrome 143465|D001289||minimal brain dysfunction 143465|D001289||motor timing quantitative trait locus 143465|D001289||syndromes hyperkinetic C536328|600273||polycystic kidneys severe infantile with tuberous sclerosis C536328|600273||chromosome 16p13 3 deletion syndrome distal C536328|600273||pkdts C536328|600273||polycystic kidney disease infantile severe with tuberous sclerosis C536328|600273||tuberous sclerosis polycystic kidney disease contiguous gene syndrome C567545||metaphyseal anadysplasia 1 C567545||mandp1 C567544||sensorineural deafness with mild renal dysfunction C566214||adult i blood group with congenital cataract C566214||adult i blood group phenotype C566214||adult i blood group without congenital cataract 215400|D002817||chordoma 215400|D002817||chdm 215400|D002817||chordomas 215400|D002817||chordoma susceptibility to D007383||intermittent claudication D007383||claudication intermittent D058926||intraoperative awareness D058926||anesthesia awareness D058926||anesthesia awareness during D058926||awareness anesthesia D058926||awareness during anesthesia D058926||awareness intraoperative D058926||during anesthesia awareness 601776||ehlers danlos syndrome musculocontractural type 1 601776||adducted thumb clubfoot and progressive joint and skin laxity syndrome 601776||atcs 601776||dundar syndrome 601776||edsmc 601776||edsmc1 D058923||medial tibial stress syndrome D058923||medial tibial stress syndrome mtss D058923||shin splint D058923||shin splints D058922||inflammatory breast neoplasms D058922||breast cancer inflammatory D058922||breast cancers inflammatory D058922||breast carcinoma inflammatory D058922||breast carcinomas inflammatory D058922||breast neoplasm inflammatory D058922||breast neoplasms inflammatory D058922||cancer inflammatory breast D058922||cancers inflammatory breast D058922||carcinoma inflammatory breast D058922||carcinomas inflammatory breast D058922||inflammatory breast cancer D058922||inflammatory breast cancer ibc D058922||inflammatory breast cancers D058922||inflammatory breast carcinoma D058922||inflammatory breast carcinomas D058922||inflammatory breast neoplasm D058922||neoplasm inflammatory breast D058922||neoplasms inflammatory breast C566226||basilar impression primary C567557||cardiac conduction defect nonspecific C566228||banki syndrome C566222||bpes with duane retraction syndrome C566222||bpes type i autosomal recessive C566222||bpes without ovarian failure C566222||bpes with ovarian failure C567553||keratosis follicularis spinulosa decalvans autosomal dominant C566223||blepharochalasis superior D020347||lithiasis D020347||calculoses D020347||calculosis D020347||lithiases 226600|D016108||epidermolysis bullosa dystrophica 226600|D016108||bullosa dystrophica epidermolysis 226600|D016108||bullosa dystrophicas epidermolysis 226600|D016108||bullosa dystrophic epidermolysis 226600|D016108||bullosas dystrophic epidermolysis 226600|D016108||cockayne touraine disease 226600|D016108||cockayne touraine type epidermolysis bullosa 226600|D016108||dystrophica epidermolysis bullosa 226600|D016108||dystrophicas epidermolysis bullosa 226600|D016108||dystrophic epidermolysis bullosa 226600|D016108||dystrophic epidermolysis bullosa autosomal recessive 226600|D016108||dystrophic epidermolysis bullosas 226600|D016108||epidermolysis bullosa dystrophic 226600|D016108||epidermolysis bullosa dystrophica autosomal recessive 226600|D016108||epidermolysis bullosa dystrophica dominant 226600|D016108||epidermolysis bullosa dystrophica hallopeau siemens type 226600|D016108||epidermolysis bullosa dystrophica hallopeau siemens type ebr1 epidermolysis bullosa dystrophica autosomal recessive localisata variant included 226600|D016108||epidermolysis bullosa dystrophica inversa autosomal recessive included 226600|D016108||epidermolysis bullosa dystrophica recessive 226600|D016108||epidermolysis bullosa dystrophicas 226600|D016108||epidermolysis bullosas dystrophic 226600|D016108||hallopeau siemens disease 226600|D016108||rdeb D006059||gonadal dysgenesis D006059||dysgenesis gonadal D006059||gonadal agenesis D020345||enterocolitis necrotizing D020345||necrotizing enterocolitis D006058||gonadal disorders D006058||disorder gonadal D006058||disorders gonadal D006058||gonadal disorder D020343||hypertensive encephalopathy D020343||encephalopathy hypertensive D006060||gonadal dysgenesis mixed D006060||mixed gonadal dysgenesis D006061||gonadal dysgenesis 46 xy D006061||46 xy complete gonadal dysgenesis D006061||46 xy gonadal dysgenesis D006061||46 xy gonadal sex reversal D006061||complete gonadal dysgenesis 46 xy D006061||pure gonadal dysgenesis 46 xy D006061||sex reversal gonadal 46 xy D006061||swyer syndrome D006061||syndrome swyer D006061||xy pure gonadal dysgenesis C565710|610187||diaphragmatic hernia 3 C565710|610187||dih3 C566230||ovalocytosis malaysian melanesian filipino type C566231||elliptocytosis 4 600430|C538317||brachydactyly mental retardation syndrome 600430||albright hereditary osteodystrophy like syndrome chromosome 2q37 deletion syndrome included 600430||bdmr D019462||syncope vasovagal D019462||cerebral syncope D019462||cerebral syncopes D019462||faint neurally mediated D019462||faints neurally mediated D019462||malignant neurocardiogenic syncope D019462||malignant neurocardiogenic syncopes D019462||neurally mediated faint D019462||neurally mediated faints D019462||neurocardiogenic syncope D019462||neurocardiogenic syncope malignant D019462||neurocardiogenic syncopes D019462||neurocardiogenic syncopes malignant D019462||neurogenic syncope D019462||neurogenic syncopes D019462||supine syncope D019462||supine syncopes D019462||syncope cerebral D019462||syncope malignant neurocardiogenic D019462||syncope neurocardiogenic D019462||syncope neurogenic D019462||syncopes cerebral D019462||syncopes malignant neurocardiogenic D019462||syncopes neurocardiogenic D019462||syncopes neurogenic D019462||syncopes supine D019462||syncope supine D019462||syncopes vasodepressor D019462||syncopes vasovagal D019462||syncope vasodepressor D019462||syncope vasovagal neurally mediated D019462||vasodepressor syncope D019462||vasodepressor syncopes D019462||vasovagal syncope D019462||vasovagal syncopes 183600|C567893||split hand foot deformity 1 183600|C567893||ecd 183600|C567893|C574275||ectrodactyly 183600|C567893||shfd1 183600|C567893||shfm1 183600|C567893||shsf1 183600|C567893|C574275||split hand deformity 183600|C567893||split hand foot malformation 1 183600|C567893||split hand foot malformation 1 with or without deafness D019465||craniofacial abnormalities D019465||abnormalities craniofacial D019465||abnormality craniofacial D019465||craniofacial abnormality 607004|C564635||brachydactyly type a1 b 607004|C564635||bda1b C567402||diastasis recti and weakness of the linea alba C567401||cerebroretinal microangiopathy with calcifications and cysts C567401||coats plus syndrome C567401||labrune syndrome C567401||leukoencephalopathy brain calcifications and cysts 268310|C535863||robinow syndrome autosomal recessive 268310|C535863||costovertebral segmentation defect with mesomelia formerly 268310|C535863||covesdem syndrome formerly robinow syndrome autosomal recessive with aplasia hypoplasia of phalanges and metacarpals metatarsals included 268310|C535863||robinow syndrome autosomal recessive with brachy syn polydactyly included 268310|C535863||rrs D021782||multicystic dysplastic kidney D021782||bilateral multicystic dysplastic kidneys D021782||dysplasia multicystic kidney D021782||dysplasia multicystic renal D021782||dysplasias multicystic kidney D021782||dysplasias multicystic renal D021782||kidney dysplasia multicystic D021782||kidney dysplasias multicystic D021782||multicystic dysplastic kidneys D021782||multicystic kidney D021782||multicystic kidney dysplasia D021782||multicystic kidney dysplasias D021782||multicystic kidneys D021782||multicystic renal dysplasia D021782||multicystic renal dysplasias D021782||renal dysplasia multicystic D021782||renal dysplasias multicystic D021782||unilateral multicystic dysplastic kidney C567409||usher syndrome type id f 252500||icd 252500||ml ii 252500||ml ii alpha beta C538116|306955||heterotaxy visceral x linked C538116|306955||chtd1 included C538116|306955||dextrocardia with other cardiac malformations C538116|306955||heterotaxy visceral 1 x linked C538116|306955|270100||heterotaxy visceral 5 autosomal C538116|306955||htx1 C538116|306955||laterality x linked C538116|306955||situs inversus complex cardiac defects and splenic defects x linked C538116|306955||situs inversus complex cardiac defects and splenic defects x linked congenital heart defects multiple types 1 x linked included C538116|306955||visceral heterotaxia D007589|243700||autosomal dominant hies D007589|243700||autosomal dominant hiess D007589|243700||autosomal recessive hies D007589|243700||autosomal recessive hiess D007589|243700||buckley syndrome D007589|243700||buckley syndromes D007589|243700||hies autosomal recessive D007589|243700||hiess autosomal dominant D007589|243700||hiess autosomal recessive D007589|243700||hie syndrome D007589|243700||hie syndromes D007589|243700||hyper ige recurrent infection syndrome autosomal recessive D007589|243700||hyper ige syndrome D007589|243700||hyper ige syndrome autosomal recessive D007589|243700||hyper ige syndromes D007589|243700||hyperimmunoglobulinemia e syndrome D007589|243700||hyperimmunoglobulinemia e syndromes D007589|243700||hyperimmunoglobulin e recurrent infection syndrome D007589|243700||hyper immunoglobulin e syndrome autosomal dominant D007589|243700||hyper immunoglobulin e syndrome autosomal recessive D007589|243700||job buckley syndrome D007589|243700||job buckley syndromes D007589|243700||job apos s syndrome D007589|243700||jobs syndrome D007589|243700||job syndromes D007589|243700||syndrome buckley D007589|243700||syndrome hie D007589|243700||syndrome hyper ige D007589|243700||syndrome hyperimmunoglobulinemia e D007589|243700||syndrome job D007589|243700||syndrome job buckley D007589|243700||syndrome job apos s D007589|243700||syndromes buckley D007589|243700||syndromes hie D007589|243700||syndromes hyperimmunoglobulinemia e D007589|243700||syndromes job D007589|243700||syndromes job buckley C563695|609573||photoparoxysmal response 3 C563695|609573||photoparoxysmal response with or without myoclonic epilepsy C563695|609573||ppr3 D018126||odontodysplasia D018126||dysplasia odontogenic D018126||dysplasias odontogenic D018126||ghost teeth D018126||ghost tooth D018126||odontodysplasias D018126||odontogenesis imperfecta D018126||odontogenic dysplasia D018126||odontogenic dysplasias D018126||teeth ghost D018126||tooth ghost D019457||chromosome breakage D019457||breakage chromosomal D019457||breakage chromosome D019457||breakages chromosomal D019457||breakages chromosome D019457||break chromosomal D019457||break chromosome D019457||breaks chromosomal D019457||breaks chromosome D019457||chromosomal break D019457||chromosomal breakage D019457||chromosomal breakages D019457||chromosomal breaks D019457||chromosome break D019457||chromosome breakages D019457||chromosome breaks C537768|601186||anophthalmia with pulmonary hypoplasia C537768|601186||anophthalmia clinical with mild facial dysmorphism and variable malformations of the lung heart and diaphragm C537768|601186||anophthalmia microphthalmia and pulmonary hypoplasia C537768|601186||matthew wood syndrome C537768|601186||mcopcb8 included C537768|601186||mcops9 C537768|601186||microphthalmia syndromic 9 C537768|601186||pulmonary agenesis microphthalmia and diaphragmatic defect C537768|601186||pulmonary agenesis microphthalmia and diaphragmatic defect pmd microphthalmia isolated with coloboma 8 included C537768|601186||spear syndrome C567412||paroxysmal exertion induced dyskinesia and hemolytic anemia C537004|220111||leigh syndrome french canadian type C537004|220111||cox deficiency french canadian type C537004|220111||cox deficiency saguenay lac saint jean type C537004|220111||cytochrome c oxidase deficiency french canadian type C537004|220111||leigh syndrome saguenay lac saint jean type C537004|220111||lsfc D020447||parasomnias D020447||benign neonatal sleep myoclonus D020447||drunkennesses sleep D020447||drunkenness sleep D020447||myoclonus benign neonatal sleep D020447||neonatal sleep myoclonus benign D020447||parasomnia D020447||paroxysm sleep sensory D020447||paroxysms sleep sensory D020447||sensory paroxysm sleep D020447||sensory paroxysms sleep D020447||sleep drunkenness D020447||sleep drunkennesses D020447||sleep related abnormal swallowing syndrome D020447||sleep sensory paroxysm D020447||sleep sensory paroxysms C567476|300706||mental retardation x linked syndromic turner type C567476|300706||mental retardation and macrocephaly syndrome C567476|300706||mrxst C567476|300706||mrxs turner C536042|166210||osteogenesis imperfecta type 2a C536042|166210||oi2 C536042|166210||oic C536042|166210||oi type ii C536042|166210||osteogenesis imperfecta congenita C536042|166210||osteogenesis imperfecta congenita perinatal lethal form C536042|166210||osteogenesis imperfecta type ii C536042|166210||osteogenesis imperfecta type iia C536042|166210||vrolik disease C536042|166210||vrolik type of osteogenesis imperfecta C563794|609115||limb girdle muscular dystrophy type 1g C563794|609115||lgmd1g 607624|C537302||griscelli syndrome type 2 607624|C537302||albinism partial with immunodeficiency 607624|C537302||griscelli syndrome with hemophagocytic syndrome 607624|C537302||gs2 607624|C537302||paid syndrome 607624|C537302||partial albinism and immunodeficiency 607624|C537302||partial albinism and immunodeficiency syndrome C567420||deafness unilateral with delayed endolymphatic hydrops D020430||cubital tunnel syndrome D020430||cubital tunnel syndromes D020430||syndrome cubital tunnel D020430||syndromes cubital tunnel D020430||tunnel syndrome cubital D020430||tunnel syndromes cubital D020430||ulnar nerve compression cubital tunnel D020430||ulnar nerve entrapment elbow C538564|603554||reticuloendotheliosis familial with eosinophilia C538564|603554||severe combined immunodeficiency with hypereosinophilia 604250|C537248||hemochromatosis type 3 604250|C537248||hemochromatosis due to defect in transferrin receptor 2 604250|C537248||hfe3 D020437||hypoglossal nerve diseases D020437||cranial nerve xii diseases D020437||cranial nerve xii disorders D020437||hypoglossal nerve disease D020437||hypoglossal nerve palsies D020437||hypoglossal nerve palsy D020437||hypoglossal neuralgia D020437||hypoglossal neuralgias D020437||hypoglossal neuropathies D020437||hypoglossal neuropathy D020437||neuralgia hypoglossal D020437||neuralgias hypoglossal D020437||neuropathies hypoglossal D020437||neuropathy hypoglossal D020437||palsies hypoglossal nerve D020437||palsy hypoglossal nerve D020437||twelfth cranial nerve diseases D020437||twelfth cranial nerve disorder D020436||accessory nerve diseases D020436||accessory nerve disease D020436||cranial nerve eleven diseases D020436||cranial nerve eleven disorders D020436||cranial nerve xi diseases D020436||eleventh cranial nerve disease D020436||spinal accessory nerve diseases D020435||glossopharyngeal nerve diseases D020435||cranial nerve ix diseases D020435||cranial nerve ix disorders D020435||glossopharyngeal motor neuropathies D020435||glossopharyngeal motor neuropathy D020435||glossopharyngeal nerve disease D020435||glossopharyngeal nerve sensory neuropathy D020435||glossopharyngeal nerve taste disorder D020435||glossopharyngeal neuralgia D020435||glossopharyngeal neuralgias D020435||motor neuropathies glossopharyngeal D020435||motor neuropathy glossopharyngeal D020435||neuralgia glossopharyngeal D020435||neuralgias glossopharyngeal D020435||ninth cranial nerve diseases D020435||sensory neuropathy glossopharyngeal nerve D020435||taste disorder glossopharyngeal nerve D020434||abducens nerve diseases D020434||6th nerve palsies D020434||6th nerve palsy D020434||abducens nerve disease D020434||abducens nerve palsies D020434||abducens nerve palsy D020434||abducens palsy childhood benign recurrent D020434||benign recurrent abducens palsy children D020434||benign recurrent abducens palsy of childhood D020434||cranial nerve vi diseases D020434||cranial nerve vi palsy D020434||lateral rectus palsies D020434||lateral rectus palsy D020434||nerve palsies 6th D020434||nerve palsies vi D020434||nerve palsy 6th D020434||nerve palsy vi D020434||palsies 6th nerve D020434||palsies abducens nerve D020434||palsies lateral rectus D020434||palsies sixth nerve D020434||palsies vi nerve D020434||palsy 6th nerve D020434||palsy abducens nerve D020434||palsy lateral rectus D020434||palsy sixth nerve D020434||palsy vi nerve D020434||sixth cranial nerve diseases D020434||sixth cranial nerve disorders D020434||sixth cranial nerve palsy D020434||sixth nerve palsies D020434||sixth nerve palsy D020434||vi nerve palsy D020434||vith cranial nerve diseases D020433||trigeminal nerve diseases D020433||cranial nerve v diseases D020433||fifth cranial nerve diseases D020433||idiopathic trigeminal neuropathies D020433||idiopathic trigeminal neuropathy D020433||neuropathies idiopathic trigeminal D020433||neuropathies trigeminal D020433||neuropathy idiopathic trigeminal D020433||neuropathy trigeminal D020433||raeder paratrigeminal syndrome D020433||syndrome raeder paratrigeminal D020433||trigeminal nerve disease D020433||trigeminal nerve disorder D020433||trigeminal nerve disorders D020433||trigeminal neuropathies D020433||trigeminal neuropathies idiopathic D020433||trigeminal neuropathy D020433||trigeminal neuropathy idiopathic D020432||trochlear nerve diseases D020432||cranial nerve iv diseases D020432||fourth cranial nerve diseases D020432||fourth cranial nerve palsy D020432||fourth nerve palsies D020432||fourth nerve palsy D020432||myokymias superior oblique D020432||myokymia superior oblique D020432||neurogenic superior oblique palsy D020432||neuropathies trochlear D020432||neuropathy trochlear D020432||palsies fourth nerve D020432||palsies trochlear nerve D020432||palsy fourth nerve D020432||palsy trochlear nerve D020432||superior oblique myokymia D020432||superior oblique myokymias D020432||superior oblique palsy neurogenic D020432||trochlear nerve disease D020432||trochlear nerve disorder D020432||trochlear nerve disorders D020432||trochlear nerve palsies D020432||trochlear nerve palsy D020432||trochlear neuropathies D020432||trochlear neuropathy D020431||olfactory nerve diseases D020431||cranial nerve i diseases D020431||cranial nerve i disorders D020431||first cranial nerve diseases D020431||olfactory nerve disease D006130||growth disorders D006130||disorder growth D006130||growth disorder C536049|610915||osteogenesis imperfecta type viii C536049|610915||oi8 C536049|610915||oi type viii 607836||autoimmune disease susceptibility to 1 607836||ais1 607836||autoimmune disease susceptibility locus chromosome 1p related 607836||vamas2 607836||vitiligo associated multiple autoimmune disease susceptibility 2 C567378|612261||inflammatory bowel disease 17 C567378|612261||ibd17 D020427||peroneal neuropathies D020427||common peroneal neuropathies D020427||common peroneal neuropathy D020427||deep peroneal neuropathies D020427||deep peroneal neuropathy D020427||external popliteal neuropathies D020427||external popliteal neuropathy D020427||fibular nerve disease D020427||fibular nerve diseases D020427||fibular neuropathies D020427||fibular neuropathy D020427||lateral popliteal neuropathies D020427||lateral popliteal neuropathy D020427||nerve disease fibular D020427||nerve disease peroneal D020427||nerve diseases fibular D020427||nerve diseases peroneal D020427||nerve paralyses peroneal D020427||nerve paralysis peroneal D020427||neuropathies common peroneal D020427||neuropathies deep peroneal D020427||neuropathies external popliteal D020427||neuropathies fibular D020427||neuropathies lateral popliteal D020427||neuropathies peroneal D020427||neuropathies superficial peroneal D020427||neuropathy common peroneal D020427||neuropathy deep peroneal D020427||neuropathy external popliteal D020427||neuropathy fibular D020427||neuropathy lateral popliteal D020427||neuropathy peroneal D020427||neuropathy superficial peroneal D020427||paralyses peroneal nerve D020427||paralysis peroneal nerve D020427||peroneal nerve disease D020427||peroneal nerve diseases D020427||peroneal nerve paralyses D020427||peroneal nerve paralysis D020427||peroneal neuropathies common D020427||peroneal neuropathies deep D020427||peroneal neuropathies superficial D020427||peroneal neuropathy D020427||peroneal neuropathy common D020427||peroneal neuropathy deep D020427||peroneal neuropathy superficial D020427||popliteal neuropathies external D020427||popliteal neuropathies lateral D020427||popliteal neuropathy external D020427||popliteal neuropathy lateral D020427||superficial peroneal neuropathies D020427||superficial peroneal neuropathy D020426||sciatic neuropathy D020426||lesion of sciatic nerve D020426||nerve disease sciatic D020426||nerve diseases sciatic D020426||nerve lesion sciatic D020426||nerve lesions sciatic D020426||nerve palsies sciatic D020426||nerve palsy sciatic D020426||neuralgia neuritides sciatic nerve D020426||neuralgia neuritis sciatic nerve D020426||neuritides sciatic D020426||neuritis sciatic D020426||neuropathies sciatic D020426||neuropathy sciatic D020426||palsies sciatic nerve D020426||palsy sciatic nerve D020426||sciatic nerve disease D020426||sciatic nerve diseases D020426||sciatic nerve lesion D020426||sciatic nerve lesions D020426||sciatic nerve neuralgia neuritides D020426||sciatic nerve neuralgia neuritis D020426||sciatic nerve palsies D020426||sciatic nerve palsy D020426||sciatic neuritides D020426||sciatic neuritis D020426||sciatic neuropathies D020425||radial neuropathy D020425||crutch palsies D020425||crutch palsy D020425||lesion radial nerve D020425||lesions radial nerve D020425||lesion superficial radial nerve D020425||nerve disease radial D020425||nerve diseases radial D020425||nerve lesion radial D020425||nerve lesions radial D020425||neuropathies radial D020425||neuropathy radial D020425||palsies crutch D020425||palsy crutch D020425||radial nerve disease D020425||radial nerve diseases D020425||radial nerve lesion D020425||radial nerve lesions D020425||radial neuropathies D020425||saturday night palsies D020425||saturday night palsy D020425||superficial radial nerve lesion D020424||ulnar neuropathies D020424||nerve diseases ulnar D020424||nerve disease ulnar D020424||nerve palsies ulnar D020424||nerve palsy ulnar D020424||neuritides ulnar D020424||neuritis ulnar D020424||neuropathies ulnar D020424||neuropathy ulnar D020424||palsies ulnar nerve D020424||palsy ulnar nerve D020424||ulnar nerve disease D020424||ulnar nerve diseases D020424||ulnar nerve palsies D020424||ulnar nerve palsy D020424||ulnar neuritides D020424||ulnar neuritis D020424||ulnar neuropathy D020423||median neuropathy D020423||distal medial neuropathies D020423||distal medial neuropathy D020423||medial neuropathies distal D020423||medial neuropathy distal D020423||median nerve disease D020423||median nerve diseases D020423||median nerve neuralgia D020423||median nerve neuralgias D020423||median neuropathies D020423||median neuropathies proximal D020423||median neuropathy proximal D020423||nerve disease median D020423||nerve diseases median D020423||neuralgia median nerve D020423||neuralgias median nerve D020423||neuropathies distal medial D020423||neuropathies median D020423||neuropathies proximal median D020423||neuropathy distal medial D020423||neuropathy median D020423||neuropathy proximal median D020423||proximal median neuropathies D020423||proximal median neuropathy D020422||mononeuropathies D020422||mononeuritides D020422||mononeuritis D020422||mononeuritis multiplex D020422||mononeuropathy D020422||mononeuropathy multiplex D020422||mononeuropathy multiplex syndrome D020422||mononeuropathy multiplex syndromes D020422||syndrome mononeuropathy multiplex D020422||syndromes mononeuropathy multiplex C563739|609313||erythrokeratodermia variabilis 3 C563739|609313||ekv3 C563739|609313||erythrokeratodermia variabilis kamouraska type C563739|609313||mednik C563739|609313||mental retardation enteropathy deafness peripheral neuropathy ichthyosis and keratoderma D020421||vagus nerve diseases D020421||cranial nerve x diseases D020421||disorder pneumogastric nerve D020421||disorders pneumogastric nerve D020421||motor disorder vagus nerve D020421||neuropathies vagus D020421||neuropathy vagus D020421||pneumogastric nerve disorder D020421||pneumogastric nerve disorders D020421||sensory disorder vagus nerve D020421||tenth cranial nerve diseases D020421||vagus nerve disease D020421||vagus nerve disorder D020421||vagus nerve disorders D020421||vagus nerve motor disorder D020421||vagus nerve sensory disorder D020421||vagus neuropathies D020421||vagus neuropathy D008796||metrorrhagia D008796||bleeding between periods D008796||bleeding breakthrough D008796||breakthrough bleeding D008796||dysfunctional uterine bleeding D008796||dysfunctional uterine bleedings D008796||intermenstrual bleeding D008796||spotting D008796||uterine bleeding dysfunctional 604271|C565805||short stature idiopathic autosomal 604271|C565805||growth hormone deficiency isolated partial 604271|C565805||growth hormone insensitivity to partial 604271|C565805||partial ighd growth hormone insensitivity to partial included D020429||tibial neuropathy D020429||internal popliteal neuropathies D020429||internal popliteal neuropathy D020429||lateral plantar neuropathies D020429||lateral plantar neuropathy D020429||medial plantar nerve disease D020429||medial plantar neuropathies D020429||medial plantar neuropathy D020429||medial popliteal neuropathies D020429||medial popliteal neuropathy D020429||nerve diseases tibial D020429||nerve disease tibial D020429||neuropathies internal popliteal D020429||neuropathies lateral plantar D020429||neuropathies medial plantar D020429||neuropathies medial popliteal D020429||neuropathies posterior tibial D020429||neuropathies tibial D020429||neuropathy internal popliteal D020429||neuropathy lateral plantar D020429||neuropathy medial plantar D020429||neuropathy medial popliteal D020429||neuropathy posterior tibial D020429||neuropathy post traumatic tibial D020429||neuropathy tibial D020429||plantar neuropathy lateral D020429||plantar neuropathy medial D020429||popliteal neuropathies internal D020429||popliteal neuropathies medial D020429||popliteal neuropathy internal D020429||popliteal neuropathy medial D020429||posterior tibial nerve diseases D020429||posterior tibial neuropathies D020429||posterior tibial neuropathy D020429||post traumatic tibial neuropathies D020429||post traumatic tibial neuropathy D020429||tibial nerve disease D020429||tibial nerve diseases D020429||tibial neuropathies D020429||tibial neuropathies posterior D020429||tibial neuropathies post traumatic D020429||tibial neuropathy posterior D020429||tibial neuropathy post traumatic D020428||femoral neuropathy D020428||femoral mononeuropathies D020428||femoral mononeuropathy D020428||femoral nerve disease D020428||femoral nerve diseases D020428||femoral neuritis D020428||femoral neuropathies D020428||mononeuropathies femoral D020428||mononeuropathy femoral D020428||nerve disease femoral D020428||nerve diseases femoral D020428||neuropathies femoral D020428||neuropathy femoral D019449||pouchitis D019449||ileitis pouch D019449||pouch ileitis C566443|610102||complement component 7 deficiency C566443|610102||c7d C566443|610102||c7 deficiency D010235|168000||paraganglioma D010235|168000||cbt1 D010235|168000||gangliocytic paraganglioma D010235|168000||gangliocytic paragangliomas D010235|168000||paraganglioma gangliocytic D010235|168000||paragangliomas D010235|168000||paragangliomas 1 D010235|168000||paragangliomas familial 1 D010235|168000||paragangliomas familial nonchromaffin 1 paragangliomas with sensorineural hearing loss included D010235|168000||paragangliomas gangliocytic D010235|168000||paragangliomata D010235|168000||pgl D010235|168000||pgl1 C567714|613192||mental retardation autosomal recessive 13 C567714|613192||mrt13 D057768||infantile apparent life threatening event D057768||idiopathic apparent life threatening event D019446||endotoxemia D019446||endotoxemias D057767||kashin beck disease D057767||disease kashin beck C536677|193230||snowflake vitreoretinal degeneration C536677|193230||snowflake degeneration in hereditary vitreoretinal degeneration C536677|193230||svd C536677|193230||vitreoretinal degeneration snowflake type D006105||granulomatous disease chronic D006105||autosomal recessive chronic granulomatous disease D006105||chronic granulomatous disease D006105||chronic granulomatous diseases D006105||disease chronic granulomatous D006105||diseases chronic granulomatous D006105||granulomatous diseases chronic D006105||x linked chronic granulomatous disease D006106||granulosa cell tumor D006106||cancer granulosa cell D006106||cancer of granulosa cells D006106||cancers granulosa cell D006106||cell cancer granulosa D006106||cell cancers granulosa D006106||cells cancer granulosa D006106||cells cancers granulosa D006106||granulosa cell cancer D006106||granulosa cell cancers D006106||granulosa cells cancer D006106||granulosa cells cancers D006106||granulosa cell tumors D006106||tumor granulosa cell D006106||tumors granulosa cell D006103||granuloma lethal midline D006103||granuloma gangraenescens D006103||granulomas lethal midline D006103||lethal midline granuloma D006103||lethal midline granulomas D006103||midline granuloma lethal D006103||midline granulomas lethal D006103||polymorphic reticuloses D006103||polymorphic reticulosis D006103||reticuloses polymorphic D006103||reticulosis polymorphic D006104||granuloma plasma cell D006104||granulomas plasma cell D006104||inflammatory pseudotumor D006104||inflammatory pseudotumors D006104||plasma cell granuloma D006104||plasma cell granulomas D006104||pseudotumor inflammatory D006104||pseudotumors inflammatory D006101||granuloma giant cell D006101||epulides giant cell D006101||epulis giant cell D006101||giant cell epulides D006101||giant cell epulis D006101||giant cell granuloma D006101||giant cell granulomas D006101||granuloma giant cell reparative D006101||granulomas giant cell D006101||peripheral giant cell granuloma C536880|604320||spinal muscular atrophy with respiratory distress 1 C536880|604320||autosomal recessive distal spinal muscular atrophy 1 C536880|604320||dhmn6 C536880|604320||diaphragmatic spinal muscular atrophy C536880|604320||distal hereditary motor neuronopathy type vi C536880|604320||distal spinal muscular atrophy type 1 C536880|604320||dsma1 C536880|604320||hmn6 C536880|604320||hmnvi C536880|604320||hmn vi C536880|604320||neuronopathy distal hereditary motor type vi C536880|604320||neuronopathy severe infantile axonal with respiratory failure C536880|604320||severe infantile axonal neuropathy with respiratory failure C536880|604320||sianrf C536880|604320||smard1 C536880|604320||spinal muscular atrophy diaphragmatic C536880|604320||spinal muscular atrophy distal autosomal recessive 1 C536880|604320||spinal muscular atrophy with respiratory distress C536880|604320||spinal muscular atrophy with respiratory distress type 1 D006102||granuloma laryngeal D006102||granuloma of larynx D006102||granulomas laryngeal D006102||laryngeal granuloma D006102||laryngeal granulomas D006102||larynx granuloma D006102||larynx granulomas D055111||failed back surgery syndrome D057772||vascular system injuries D057772||injuries vascular D057772||injuries vascular system D057772||injury vascular D057772||injury vascular system D057772||system injuries vascular D057772||system injury vascular D057772||vascular injuries D057772||vascular injury D057772||vascular system injury D055112||pyometra D055112||pyometras D055113||chronic periodontitis D055113||adult periodontitides D055113||adult periodontitis D055113||chronic periodontitides D055113||periodontitides adult D055113||periodontitides chronic D055113||periodontitis adult D055113||periodontitis chronic D057774||post exercise hypotension D057774||hypotension postexercise D057774||hypotension post exercise D057774||hypotensions postexercise D057774||hypotensions post exercise D057774||postexercise hypotension D057774||postexercise hypotensions D057774||post exercise hypotensions C537991|605589||charcot marie tooth disease type 2b2 C537991|605589||arcmt2b C537991|605589||charcot marie tooth disease axonal autosomal recessive b2 C537991|605589||charcot marie tooth disease axonal autosomal recessive type 2b2 C537991|605589||charcot marie tooth disease axonal autosomal recessive type b2 C537991|605589||charcot marie tooth disease axonal type 2b2 C537991|605589||charcot marie tooth disease neuronal type 2b2 C537991|605589||charcot marie tooth neuropathy type 2b2 C537991|605589||cmt2b2 C537991|605589||cmt 2b2 D020417||nystagmus congenital D020417||congenital nystagmus C536631|609241||schindler disease type i C536631|609241||alpha galactosidase b deficiency C536631|609241||alpha galnac deficiency schindler type C536631|609241||alpha n acetylgalactosaminidase deficiency C536631|609241||alpha n acetylgalactosaminidase deficiency adult onset C536631|609241||alpha n acetylgalactosaminidase deficiency type 1 C536631|609241||alpha n acetylgalactosaminidase deficiency type 2 C536631|609241||alpha n acetylgalactosaminidase deficiency type i C536631|609241||alpha n acetylgalactosaminidase deficiency type ii C536631|609241||alpha n acetylgalactosaminidase deficiency type iii C536631|609241||alpha naga deficiency C536631|609241||angiokeratoma corporis diffusum glycopeptiduria C536631|609241||galb deficiency C536631|609241||kanzaki disease C536631|609241||lysosomal glycoaminoacid storage disease angiokeratoma corporis diffusum C536631|609241||naga deficiency C536631|609241||naga deficiency type 2 C536631|609241||naga deficiency type i C536631|609241||naga deficiency type i alpha n acetylgalactosaminidase deficiency type iii included C536631|609241||naga deficiency type ii C536631|609241||naga deficiency type iii C536631|609241||naga deficiency type iii included C536631|609241||neuroaxonal dystrophy schindler type C536631|609241||neuronal axonal dystrophy schindler type C536631|609241||schindler disease C536631|609241||schindler disease type 1 C536631|609241||schindler disease type 2 C536631|609241||schindler disease type ii C536631|609241||schindler disease type iii C536631|609241||schindler disease type iii included 607765|C535442||bile acid synthesis defect congenital 1 607765|C535442||3 beta hydroxy delta 5 c27 steroid oxidoreductase deficiency 607765|C535442||3 beta hydroxy delta 5 c27 steroid oxidoreductase deficiency of 607765|C535442||cbas1 607765|C535442||cholestasis progressive familial intrahepatic 4 607765|C535442||congenital bile acid synthesis defect type 1 cbas1 607765|C535442||progressive familial intrahepatic cholestasis 4 184840|C537494||stickler syndrome type 3 184840|C537494||stickler syndrome nonocular type 184840|C537494||stickler syndrome type iii 184840|C537494||stl3 C564701|606528||homozygous 11p15 p14 deletion syndrome C564701|606528||hyperinsulinism infantile with enteropathy and deafness 118800|C537181||paroxysmal nonkinesigenic dyskinesia 118800|C537181||choreoathetosis familial paroxysmal 118800|C537181||choreoathetosis nonkinesigenic 118800|C537181||dystonia 8 118800|C537181||dyt8 118800|C537181||familial paroxysmal choreoathetosis 118800|C537181||familial paroxysmal nonkinesigenic dyskinesia 118800|C537181||fpd1 118800|C537181||mount reback syndrome 118800|C537181||nonkinesigenic choreoathetosis 118800|C537181||paroxysmal dystonic choreoathetosis 118800|C537181||paroxysmal nonkinesigenic dyskinesia 1 118800|C537181||pdc 118800|C537181||pnkd1 D007446||chromosome inversion D007446||chromosomal inversion D007446||chromosomal inversions D007446||chromosome inversions D007446||inversion chromosomal D007446||inversion chromosome D007446||inversions chromosomal D007446||inversions chromosome D007443||intussusception D007443||intestinal invagination D007443||intestinal invaginations D007443||intussusceptions D007443||intususception D007443||intususceptions D007443||invagination intestinal D007443||invaginations intestinal C564643|606943||usher syndrome type ig C564643|606943||ush1g C565217|610227||seborrhea like dermatitis with psoriasiform elements 166260||gdd C564570|300194||alport syndrome mental retardation midface hypoplasia and elliptocytosis C564570|300194||amme complex C564570|300194||ats mr C564570|300194||chromosome xq22 3 telomeric deletion syndrome 611064||asthma related traits susceptibility to 5 611064||asrt5 612390||pch2c C563671|610381||cone rod dystrophy 11 C563671|610381||cord11 C567679|613266||waardenburg syndrome type 4c C567679|613266||waardenburg syndrome type ivc C567679|613266||waardenburg syndrome with hirschsprung disease type 4c C567679|613266||waardenburg syndrome with hirschsprung disease type 4c waardenburg syndrome type ivc C567679|613266||ws4c C564599|607259||spastic paraplegia 7 autosomal recessive C564599|607259||spg7 D007418||intestinal pseudo obstruction D007418||chronic idiopathic intestinal pseudo obstruction D007418||congenital short bowel syndrome D007418||enteric neuropathy D007418||idiopathic intestinal pseudo obstruction D007418||idiopathic intestinal pseudo obstructions D007418||ileus paralytic D007418||intestinal pseudoobstruction D007418||intestinal pseudo obstruction idiopathic D007418||intestinal pseudoobstructions D007418||intestinal pseudo obstructions D007418||intestinal pseudo obstructions idiopathic D007418||myopathies visceral D007418||myopathy visceral D007418||paralytic ileus D007418||pseudointestinal obstruction syndrome D007418||pseudo obstruction idiopathic intestinal D007418||pseudoobstruction intestinal D007418||pseudo obstruction intestinal D007418||pseudo obstructions idiopathic intestinal D007418||pseudoobstructions intestinal D007418||pseudo obstructions intestinal D007418||pseudoobstructive syndrome D007418||visceral myopathies D044483||intestinal polyposis D044483||cronkhite canada syndrome D044483||polyposis intestinal D044483||polyposis skin pigmentation alopecia and fingernail changes 277610|C535776||pierre robin syndrome with fetal chondrodysplasia 277610|C535776||heterozygous osmed 277610|C535776||heterozygous otospondylomegaepiphyseal dysplasia 277610|C535776||weissenbacher zweymuller syndrome 277610|C535776||weissenbacher zweym 252 ller syndrome 277610|C535776||wzs D004421|612067||dystonia D004421|612067||diurnal dystonia D004421|612067|C567430||dystonia 16 D004421|612067||dystonia diurnal D004421|612067||dystonia limb D004421|612067||dystonia muscle D004421|612067||dystonia paroxysmal D004421|612067|C567430||dyt16 D004421|612067||limb dystonia D004421|612067||muscle dystonia D004421|612067||paroxysmal dystonia D007416||intestinal perforation D007416||intestinal perforations D007416||perforation intestinal D007416||perforations intestinal D007417||intestinal polyps D007417||intestinal polyp D007417||polyp intestinal D007417||polyps intestinal D007414||intestinal neoplasms D007414||cancer intestinal D007414||cancer intestines D007414||cancer of intestines D007414||cancer of the intestines D007414||cancers intestinal D007414||cancers intestines D007414||intestinal cancer D007414||intestinal cancers D007414||intestinal neoplasm D007414||intestines cancer D007414||intestines cancers D007414||intestines neoplasm D007414||intestines neoplasms D007414||neoplasm intestinal D007414||neoplasm intestines D007414||neoplasms intestinal D007414||neoplasms intestines D007415||intestinal obstruction D007415||intestinal obstructions D007415||obstruction intestinal D007412||intestinal fistula D007412||cholecystoduodenal fistula D007412||colovesical fistula D007412||enterocutaneous fistula D007412||fistula cholecystoduodenal D007412||fistula colovesical D007412||fistula enterocutaneous D007412||fistula intestinal C536480|236730||urofacial syndrome C536480|236730||facial palsy partial with urinary abnormalities C536480|236730||hydronephrosis inverted smile C536480|236730||hydronephrosis with peculiar facial expression C536480|236730||inverted smile and occult neuropathic bladder C536480|236730||inverted smile neurogenic bladder C536480|236730||ochoa syndrome C536480|236730||partial facial palsy with urinary abnormalities C536480|236730||ufs C536480|236730||ufs1 C536480|236730||urofacial ochoa apos s syndrome C536480|236730||urofacial syndrome 1 D007410||intestinal diseases D007410||disease intestinal D007410||diseases intestinal D007410||intestinal disease D007411||intestinal diseases parasitic D007411||disease parasitic intestinal D007411||diseases parasitic intestinal D007411||intestinal disease parasitic D007411||parasitic intestinal disease D007411||parasitic intestinal diseases 612389||pch2b D052536|257200||niemann pick disease type a D052536|257200||cholesterol lipidoses neuronal D052536|257200||cholesterol lipidosis neuronal D052536|257200||classical niemann pick disease D052536|257200||deficiencies sphingomyelinase D052536|257200||deficiency sphingomyelinase D052536|257200||lipidoses neuronal cholesterol D052536|257200||lipidoses sphingomyelin D052536|257200||lipidoses sphingomyelin cholesterol D052536|257200||lipidosis neuronal cholesterol D052536|257200||lipidosis sphingomyelin D052536|257200||lipidosis sphingomyelin cholesterol D052536|257200||neuronal cholesterol lipidoses D052536|257200||neuronal cholesterol lipidosis D052536|257200||niemann pick disease acute neuronopathic form D052536|257200||niemann pick disease acute neurovisceral form D052536|257200||niemann pick disease classical D052536|257200||niemann pick disease neuronopathic type D052536|257200||niemann pick apos s disease type a D052536|257200||ophthalmoplegias supraoptic vertical D052536|257200||ophthalmoplegia supraoptic vertical D052536|257200||sphingomyelinase deficiencies D052536|257200||sphingomyelinase deficiency D052536|257200||sphingomyelinase deficiency disease D052536|257200||sphingomyelinase deficiency diseases D052536|257200||sphingomyelinase deficiency niemann pick disease intermediate protracted neurovisceral included D052536|257200||sphingomyelin cholesterol lipidoses D052536|257200||sphingomyelin cholesterol lipidosis D052536|257200||sphingomyelin lipidoses D052536|257200||sphingomyelin lipidosis D052536|257200||supraoptic vertical ophthalmoplegia D052536|257200||supraoptic vertical ophthalmoplegias D052536|257200||type a niemann pick disease D052536|257200||vertical ophthalmoplegias supraoptic D052536|257200||vertical ophthalmoplegia supraoptic D057792||mirizzi syndrome D057792||mirizzi apos s syndrome D057792||mirizzis syndrome D057792||syndrome mirizzi D057792||syndrome mirizzi apos s 193300|D006623||von hippel lindau disease 193300|D006623||angiomatoses familial cerebelloretinal 193300|D006623||angiomatoses familial cerebello retinal 193300|D006623||angiomatosis familial cerebelloretinal 193300|D006623||angiomatosis familial cerebello retinal 193300|D006623||angiomatosis retinae 193300|D006623||cerebelloretinal angiomatoses familial 193300|D006623||cerebello retinal angiomatoses familial 193300|D006623||cerebelloretinal angiomatosis familial 193300|D006623||cerebello retinal angiomatosis familial 193300|D006623||familial cerebelloretinal angiomatoses 193300|D006623||familial cerebello retinal angiomatoses 193300|D006623||familial cerebelloretinal angiomatosis 193300|D006623||familial cerebello retinal angiomatosis 193300|D006623||hippel lindau disease 193300|D006623||lindau disease 193300|D006623||lindau apos s disease 193300|D006623||lindaus disease 193300|D006623||lindau apos s diseases 193300|D006623||retinae angiomatosis 193300|D006623||syndromes vhl 193300|D006623||syndrome vhl 193300|D006623||syndrome von hippel lindau 193300|D006623||vhl 193300|D006623||vhl syndrome 193300|D006623||vhl syndromes 193300|D006623||von hippel lindau syndrome 193300|D006623||von hippel lindau syndrome modifiers of included C537663|301845||bazex dupre christol syndrome C537663|301845||bazex syndrome C537663|301845||bdcs C537663|301845||bzx C537663|301845||follicular atrophoderma and basal cell carcinomas C537663|301845||follicular atrophoderma basal cell carcinoma syndrome C537663|301845||follicular atrophoderma basocellular proliferations hypotrichosis syndrome C567854|612943||retinitis pigmentosa 42 C567854|612943||rp42 607459|C537583||sensory ataxic neuropathy dysarthria and ophthalmoparesis 607459|C537583||scae included 607459|C537583||sensory ataxic neuropathy with mitochondrial dna deletions autosomal recessive spinocerebellar ataxia with epilepsy included 251200||microcephaly 1 primary autosomal recessive 251200||mcph1 251200||pcc syndrome 278700|D014983||xeroderma pigmentosum 278700|D014983||kaposi disease 278700|D014983||kaposi apos s disease 278700|D014983||kaposis disease 278700|D014983||xeroderma pigmentosum complementation group a 278700|D014983||xeroderma pigmentosum i 278700|D014983||xp1 278700|D014983||xpa 278700|D014983||xp group a D006100||granuloma inguinale D006100||donovanosis D006100||granuloma venereum D007431||intraoperative complications D007431||complication intraoperative D007431||complication peroperative D007431||complications intraoperative D007431||complications peroperative D007431||injuries surgical D007431||injury surgical D007431||intraoperative complication D007431||peroperative complication D007431||peroperative complications D007431||surgical injuries D007431||surgical injury 612379||congenital disorder of glycosylation type iq 612379||cdg1q 612379||cdgiq 612379||cdg iq 612379||coloboma ocular with ichthyosis brain malformations and endocrine abnormalities 611046||mycobacterium tuberculosis susceptibility to 2 611046||mtbs2 611040||microphthalmia isolated 5 611040||mcop5 611040|C567024||microphthalmia posterior with retinitis pigmentosa foveoschisis and optic disc drusen C535716|601455||neuropathy hereditary motor and sensory lom type C535716|601455||charcot marie tooth disease demyelinating autosomal recessive type 4d C535716|601455||charcot marie tooth disease type 4d C535716|601455||charcot marie tooth neuropathy type 4d C535716|601455||cmt4d C535716|601455||hereditary motor and sensory neuropathy lom type C535716|601455||hmsn4d C535716|601455||hmsnl D043171||chromosomal instability D043171||chromosomal instabilities D043171||chromosomal stabilities D043171||chromosomal stability D043171||chromosome instabilities D043171||chromosome instability D043171||chromosome stabilities D043171||chromosome stability D043171||instabilities chromosomal D043171||instabilities chromosome D043171||instability chromosomal D043171||instability chromosome D043171||stabilities chromosomal D043171||stabilities chromosome D043171||stability chromosomal D043171||stability chromosome C564640|606966||nephronophthisis 4 C564640|606966||nephronophthisis 4 juvenile C564640|606966||nphp4 C563884|608653||deafness autosomal recessive 32 C563884|608653||dfnb32 D055154||dysphonia D055154||dysphonia hyperkinetic D055154||dysphonia organic tremor D055154||dysphonia spastic D055154||hyperkinetic dysphonia D055154||neurologic adducter spastic dysphonia D055154||organic tremor dysphonia D055154||phonation disorder D055154||phonation disorders D055154||spastic dysphonia D055154||spastic dysphonia neurologic adducter D056486||drug induced liver injury D056486||acute liver injury drug induced D056486||disease drug induced liver D056486||diseases drug induced liver D056486||drug induced acute liver injury D056486||drug induced hepatitides D056486||drug induced hepatitis D056486||drug induced liver disease D056486||drug induced liver diseases D056486||drug induced liver injuries D056486||hepatitides drug induced D056486||hepatitides toxic D056486||hepatitis drug induced D056486||hepatitis toxic D056486||injuries drug induced liver D056486||injury drug induced liver D056486||liver disease drug induced D056486||liver diseases drug induced D056486||liver injuries drug induced D056486||liver injury drug induced D056486||liver injury drug induced acute D056486||toxic hepatitides D056486||toxic hepatitis D056487||drug induced liver injury chronic D056487||chronic drug induced liver injury D056487||hepatitis chronic drug induced D056487||hepatitis chronic drug related D056487||liver injury drug induced chronic C538064|305620||frontometaphyseal dysplasia D007409||intestinal atresia D007409||apple peel intestinal atresia D007409||apple peel intestinal atresias D007409||apple peel small bowel syndrome D007409||apple peel syndrome D007409||apple peel syndromes D007409||atresia apple peel intestinal D007409||atresia congenital intestinal D007409||atresia intestinal D007409||atresia jejunal D007409||atresias apple peel intestinal D007409||atresias congenital intestinal D007409||congenital intestinal atresia D007409||congenital intestinal atresias D007409||familial apple peel jejunal atresia D007409||intestinal atresia apple peel D007409||intestinal atresia congenital D007409||intestinal atresias apple peel D007409||intestinal atresias congenital D007409||jejunal atresia D043183||irritable bowel syndrome D043183||colitides mucous D043183||colitis mucous D043183||colon irritable D043183||irritable bowel syndromes D043183||irritable colon D043183||mucous colitides D043183||mucous colitis D043183||syndrome irritable bowel D043183||syndromes irritable bowel D007405||intervertebral disc displacement D007405||disc displacement intervertebral D007405||disc displacements intervertebral D007405||disc herniated D007405||disc prolapsed D007405||discs herniated D007405||disc slipped D007405||discs prolapsed D007405||discs slipped D007405||disk displacement intervertebral D007405||disk displacements intervertebral D007405||disk herniated D007405||disk prolapse D007405||disk prolapsed D007405||disk prolapses D007405||disks herniated D007405||disk slipped D007405||disks prolapsed D007405||disks slipped D007405||displacement intervertebral disc D007405||displacement intervertebral disk D007405||displacements intervertebral disc D007405||displacements intervertebral disk D007405||herniated disc D007405||herniated discs D007405||herniated disk D007405||herniated disks D007405||intervertebral disc displacements D007405||intervertebral disk displacement D007405||intervertebral disk displacements D007405||prolapsed disc D007405||prolapsed discs D007405||prolapsed disk D007405||prolapsed disks D007405||prolapse disk D007405||prolapses disk D007405||slipped disc D007405||slipped discs D007405||slipped disk D007405||slipped disks C566021|613254||tuberous sclerosis 2 C566021|613254||tsc2 C566021|613254||tsc2 angiomyolipomas renal modifier of included D007402||intertrigo C564299|608036||diabetes mellitus noninsulin dependent type 4 C564299|608036||diabetes mellitus noninsulin dependent 4 C564299|608036||niddm4 C564299|608036||noninsulin dependent diabetes mellitus 4 C565375|252011||mitochondrial complex ii deficiency C565375|252011||succinate coq reductase deficiency C565698|610220||deafness autosomal recessive 59 C565698|610220||dfnb59 C536316|609796||peeling skin syndrome acral type C536316|609796||acral peeling skin syndrome C536316|609796||apss C536316|609796||peeling skin syndrome type a C537979|613108||candf4 C537979|613108||candidiasis familial 4 C537979|613108||candidiasis familial chronic mucocutaneous C537979|613108||candidiasis familial type 4 C537979|613108||familial chronic mucocutaneous candidiasis C562573||cyclopia D008708||methemoglobinemia D008708||methemoglobinemias C562577||cirrhosis cryptogenic C563421|600965||deafness autosomal dominant 6 C563421|600965||deafness autosomal dominant 14 C563421|600965||deafness autosomal dominant 38 C563421|600965||dfna14 C563421|600965||dfna38 C563421|600965||dfna6 C562574||visceral myopathy familial C536294|608091||joubert syndrome 2 C536294|608091||cerebellooculorenal syndrome 2 C536294|608091||cors2 C536294|608091||jbts2 194050|D018980||williams syndrome 194050|D018980||aortic stenoses hypercalcemia supravalvar 194050|D018980||aortic stenosis hypercalcemia supravalvar 194050|D018980||beuren syndrome 194050|D018980||chromosome 7q11 23 deletion syndrome 194050|D018980||chromosome 7q11 23 deletion syndrome 1 5 to 1 8 mb 194050|D018980||contiguous gene syndrome williams 194050|D018980||hypercalcemia supravalvar aortic stenoses 194050|D018980||hypercalcemia supravalvar aortic stenosis 194050|D018980||stenoses hypercalcemia supravalvar aortic 194050|D018980||stenosis hypercalcemia supravalvar aortic 194050|D018980||supravalvar aortic stenosis syndrome 194050|D018980||syndrome beuren 194050|D018980||syndrome williams 194050|D018980||syndrome williams beuren 194050|D018980||wbs 194050|D018980||williams beuren syndrome 194050|D018980||williams contiguous gene syndrome 194050|D018980||wms 194050|D018980||ws C567327|612380||inflammatory bowel disease 22 C567327|612380||ibd22 D040921||stress disorders traumatic D040921||stress disorder traumatic D040921||traumatic stress disorder D040921||traumatic stress disorders C566881|267450||respiratory distress syndrome in premature infants C566881|267450||hyaline membrane disease formerly C566881|267450||rds of prematurity C567817|613007||biliary cirrhosis primary 2 C567817|613007||pbc2 D005764|109350||gastroesophageal reflux D005764|109350||acid reflux gastric D005764|109350||esophageal reflux D005764|109350||gastric acid reflux D005764|109350||gastric acid reflux disease D005764|109350||gastro esophageal reflux D005764|109350||gastroesophageal reflux disease D005764|109350||gastroesophageal reflux pediatric D005764|109350||gastro oesophageal reflux D005764|109350||ger D005764|109350||gerd D005764|109350||reflux gastric acid D005764|109350||reflux gastroesophageal D005764|109350||reflux gastro esophageal D005764|109350||reflux gastro oesophageal C562580||cirrhosis familial with pulmonary hypertension C562580||indian childhood cirrhosis 142690|C538118||hidradenitis suppurativa familial 142690|C538118||acne inversa familial 142690|C538118||acne inversa familial 1 142690|C538118||acne inversa familial 2 142690|C538118||acne inversa familial 3 142690|C538118||acninv1 142690|C538118||acninv2 142690|C538118||acninv3 C562581||hypercalcemia idiopathic of infancy D055191||delayed emergence from anesthesia D055191||awakening post anesthesia delayed D055191||awakenings post anesthesia delayed D055191||delayed awakening from anesthesia D055191||delayed awakening post anesthesia D055191||delayed awakening post procedural D055191||delayed awakenings post anesthesia D055191||delayed awakenings post procedural D055191||delayed recovery from anesthesia D055191||delayed regaining of consciousness D055191||delayed return of consciousness D055191||post anesthesia delayed awakening D055191||post anesthesia delayed awakenings D055191||post procedural delayed awakening D055191||post procedural delayed awakenings C562589||orotic aciduria ii C562589||omp decarboxylase deficiency C562589||orotidylic decarboxylase deficiency C535581|605676||cardiomyopathy dilated with woolly hair and keratoderma C535581|605676||carvajal syndrome C535581|605676||dcwhk C535581|605676||epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy C535581|605676||palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair C565449|245340||erythrocyte lactate transporter defect C565449|245340||lactate transporter defect myopathy due to C536051|259600||osteolysis hereditary multicentric C536051|259600||al aqeel sewairi syndrome C536051|259600||hereditary multicentric osteolysis C536051|259600||mona C536051|259600||multicentric osteolysis nodulosis and arthropathy C536051|259600||nao syndrome C536051|259600||nodulosis arthropathy osteolysis syndrome C536051|259600||torg osteolysis syndrome C536051|259600||torg syndrome C536051|259600||torg winchester syndrome C536051|259600||torg winchester syndrome formerly C565057|130700||emphysema hereditary pulmonary 606579||vitiligo associated multiple autoimmune disease susceptibility 1 606579||slev1 606579||systemic lupus erythematosus vitiligo related 606579||vamas1 606579|D014820||vitiligo 606579||vtlg D029242|308905||optic atrophy hereditary leber D029242|308905||disease leber apos s D029242|308905||diseases leber apos s D029242|308905||hereditary optic neuroretinopathies D029242|308905||hereditary optic neuroretinopathy D029242|308905||leber disease D029242|308905||leber hereditary optic atrophy D029242|308905||leber hereditary optic neuropathy D029242|308905||leber hereditary optic neuropathy modifier of D029242|308905||leber optic atrophy D029242|308905||leber optic atrophy and dystonia D029242|308905||leber optic atrophy susceptibility to D029242|308905||leber optic neuropathy D029242|308905||leber apos s disease D029242|308905||lebers disease D029242|308905||leber apos s diseases D029242|308905||leber apos s hereditary optic atrophy D029242|308905||leber apos s hereditary optic neuropathy D029242|308905||leber apos s optic atrophy D029242|308905||leber apos s optic neuropathy D029242|308905||lebers optic neuropathy D029242|308905||lhon D029242|308905||lhon modifier of D029242|308905||loas D029242|308905||neuropathy leber apos s optic D029242|308905||neuroretinopathies hereditary optic D029242|308905||neuroretinopathy hereditary optic D029242|308905||optic atrophy leber D029242|308905||optic atrophy leber hereditary D029242|308905||optic atrophy leber type D029242|308905||optic neuropathy leber apos s D029242|308905||optic neuroretinopathies hereditary D029242|308905||optic neuroretinopathy hereditary C536263||radial ray hypoplasia choanal atresia C536263||radial ray hypoplasia with choanal atresia C537594||shapiro syndrome C537594||shapiro apos s syndrome C536264||radiation induced angiosarcoma of the breast C536264||post irradiation angiosarcoma of the breast C537595||sharma kapoor ramji syndrome C535601|300018||dosage sensitive sex reversal C535601|300018||46 xy sex reversal 2 C535601|300018||46 xy sex reversal dax1 related C535601|300018||srxy2 C563880||robin sequence with distinctive facial appearance and brachydactyly C536261||radial defect robin sequence C536261||bilateral radial defects club foot deformity micrognathia and cleft palate C536261||bruce winship syndrome C565079|127550||dyskeratosis congenita autosomal dominant C565079|127550||dkca1 C565079|127550||dyskeratosis congenita autosomal dominant 1 C565079|127550||dyskeratosis congenita scoggins type C536262||radial hypoplasia triphalangeal thumbs and hypospadias C536262||radial hypoplasia triphalangeal thumbs hypospadias and maxillary diastema C536262||radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema C536262||schmitt gillenwater kelly syndrome C537593||severe infantile axonal neuropathy C536267||radio renal syndrome D013282||stomatitis denture D013282||denture stomatitides D013282||denture stomatitis D013282||stomatitides denture C537598||short limb dwarfism al gazali type C537598||lethal neonatal short limb dwarfism C537598||lethal short limb skeletal dysplasia al gazali type C536268||radio ulnar synostosis type 1 C536268||congenital radio ulnar synostosis D013283||stomatitis herpetic D013283||gingivostomatitides herpetic D013283||gingivostomatitis herpetic D013283||herpes simplex oral D013283||herpetic gingivostomatitides D013283||herpetic gingivostomatitis D013283||herpetic stomatitides D013283||herpetic stomatitis D013283||oral herpes simplex D013283||simplex oral herpes D013283||stomatitides herpetic C537599||short rib polydactyly syndrome beemer type C537599||beemer langer syndrome C537599||short rib polydactyly syndrome type 4 C537599||short rib polydactyly syndrome type iv C537599||short rib syndrome beemer type C537599||srps iv C537599||srps type 4 C536265||radiation induced brachial plexopathy C536265||radiation induced brachial neuritis C536265||radiation injury to the brachial plexus D013280||stomatitis D013280||mucositides oral D013280||mucositis oral D013280||oral mucositides D013280||oral mucositis D013280||oromucositides D013280||oromucositis D013280||stomatitides D013281||stomatitis aphthous D013281||aphthae D013281||aphthous stomatitides D013281||aphthous stomatitis D013281||aphthous ulcer D013281||aphthous ulcers D013281||canker sore D013281||canker sores D013281||periadenitis mucosa necrotica recurrens D013281||sore canker D013281||sores canker D013281||stomatitides aphthous D013281||ulcer aphthous D013281||ulcers aphthous C537597||short limb dwarf lethal colavita kozlowski type C537597||colavita kozlowski syndrome C562559||prognathism mandibular C562559||habsburg jaw C562559||hapsburg jaw C562557||polythelia familial C562557||accessory nipples C562557||nipples supernumerary C562557||polymastia C537590||severe combined immunodeficiency atypical C537590||scid atypical C536260||quebec platelet disorder C536260||factor v quebec D020190|254770||myoclonic epilepsy juvenile D020190|254770||adolescent myoclonic epilepsies D020190|254770||adolescent myoclonic epilepsy D020190|254770||eca4 included D020190|254770||eig13 D020190|254770||eig7 D020190|254770||ejm D020190|254770||ejm1 included D020190|254770||ejm2 included D020190|254770||ejm3 D020190|254770||ejm4 D020190|254770||ejm5 D020190|254770||ejm5 included D020190|254770||epilepsies adolescent myoclonic D020190|254770||epilepsies juvenile myoclonic D020190|254770||epilepsy adolescent myoclonic D020190|254770||epilepsy childhood absence susceptibility to 4 included D020190|254770||epilepsy idiopathic generalized susceptibility to 13 D020190|254770||epilepsy idiopathic generalized susceptibility to 7 D020190|254770||epilepsy juvenile myoclonic D020190|254770||epilepsy juvenile myoclonic susceptibility to 5 included D020190|254770||epilepsy myoclonic juvenile D020190|254770||impulsive petit mal epilepsy D020190|254770||impulsive petit mal janz D020190|254770||janz impulsive petit mal D020190|254770||janz juvenile myoclonic epilepsy D020190|254770||janz syndrome D020190|254770||janz syndrome myoclonic epilepsy juvenile susceptibility to 1 included D020190|254770||jme D020190|254770||jme juvenile myoclonic epilepsy D020190|254770||jmes juvenile myoclonic epilepsy D020190|254770||juvenile myoclonic epilepsies D020190|254770||juvenile myoclonic epilepsy D020190|254770||juvenile myoclonic epilepsy of janz D020190|254770||myoclonic epilepsies adolescent D020190|254770||myoclonic epilepsies juvenile D020190|254770||myoclonic epilepsy adolescent D020190|254770||myoclonic epilepsy juvenile 1 D020190|254770||myoclonic epilepsy juvenile 2 included D020190|254770||myoclonic epilepsy juvenile susceptibility to 3 D020190|254770||myoclonic epilepsy juvenile susceptibility to 4 D020190|254770||petit mal impulsive D020190|254770||petit mal impulsive janz D020190|254770||petit mals impulsive D020190|254770||syndrome janz C537928|609955||fibromatosis gingival 3 C537928|609955||fibromatosis gingival hereditary 3 C537928|609955||ggf3 C537928|609955||gingf3 C537928|609955||hgf3 D013275||stomach rupture D013275||gastric rupture D013275||gastric ruptures D013275||rupture gastric D013275||ruptures gastric D013275||ruptures stomach D013275||rupture stomach D013275||stomach ruptures D013276||stomach ulcer D013276||gastric ulcer D013276||gastric ulcers D013276||stomach ulcers D013276||ulcer gastric D013276||ulcers gastric D013276||ulcers stomach D013276||ulcer stomach D013273||diverticulum stomach D013273||diverticula gastric D013273||diverticula stomach D013273||diverticulum gastric D013273||gastric diverticula D013273||gastric diverticulum D013273||stomach diverticula D013273||stomach diverticulum C536259||qazi markouizos syndrome C536259||dysharmonic skeletal maturation muscular fibre disproportion C536259||puertorican infant hypotonia syndrome C536259||puerto rican infant hypotonia syndrome C536196|130020||ehlers danlos syndrome type 3 C536196|130020||benign hypermobility syndrome C536196|130020||eds3 C536196|130020||eds iii C536196|130020||ehlers danlos syndrome hypermobility type C536196|130020||ehlers danlos syndrome type iii D013277||stomach volvulus D013277||gastric volvulus D013277||volvulus gastric D013277||volvulus stomach C562561||pyloric atresia C536274||ichthyosis mental retardation dwarfism and renal impairment C562562||colonic atresia D013290||streptococcal infections D013290||infections streptococcal D013290||infection streptococcal D013290||streptococcal infection C536272||ichthyosis tapered fingers midline groove up C536272||oral and digital anomalies with ichthyosis C536272||unusual facies digital abnormalities and ichthyosis C536273||autosomal recessive ichthyosis with hypotrichosis C562565||uterine anomalies C563896||midface hypoplasia obesity developmental delay and neonatal hypotonia C563693|609886||glomerulocystic kidney disease with hyperuricemia and isosthenuria C562563||microcolon C536276||idiopathic basal ganglia calcification childhood onset C536276||basal ganglia calcification idiopathic childhood onset C536276||bilateral striopallidodentate calcinosis childhood onset C536276||cerebral calcification nonarteriosclerotic childhood onset idiopathic C536276||cerebral calcification nonarteriosclerotic idiopathic childhood onset C536276||ibgc childhood onset C536276||striopallidodentate calcinosis bilateral childhood onset C563665|610773||mitochondrial phosphate carrier deficiency C563665|610773||mpcd C562564||gallbladder agenesis of C535311|258501||costeff optic atrophy syndrome C535311|258501||3 methylglutaconic aciduria type iii C535311|258501||costeff syndrome C535311|258501||iraqi jewish optic atrophy plus C535311|258501||iraqi jewish apos optic atrophy plus apos C535311|258501||mga3 C535311|258501||mga type iii C535311|258501||mgca3 C535311|258501||opa3 autosomal recessive C535311|258501||optic atrophy 3 autosomal recessive C535311|258501||optic atrophy infantile with chorea and spastic paraplegia C535311|258501||optic atrophy plus syndrome 609033|C536343||posterior column ataxia with retinitis pigmentosa 609033|C536343||axpc1 609033|C536343||pcarp C562568||cerebellar hypoplasia C536270||radioulnar synostosis retinal pigment abnormalities D049913|219090||acth secreting pituitary adenoma D049913|219090||acth producing pituitary adenoma D049913|219090||acth producing pituitary adenomas D049913|219090||acth secreting pituitary adenomas D049913|219090||adenoma corticotroph D049913|219090||adenomas corticotroph D049913|219090||corticotroph adenoma D049913|219090||corticotroph adenomas D049913|219090||corticotropin secreting adenoma pituitary D049913|219090||corticotropin secreting adenomas pituitary D049913|219090||pituitary adenoma acth producing D049913|219090||pituitary adenoma acth secreting D049913|219090||pituitary adenomas acth producing D049913|219090||pituitary adenomas acth secreting D049913|219090||pituitary corticotropin secreting adenoma D049913|219090||pituitary corticotropin secreting adenomas C566875|300055||mental retardation x linked syndromic 13 C566875|300055|C564724||mental retardation with psychosis pyramidal signs and macroorchidism C566875|300055||mrx16 C566875|300055||mrx79 C566875|300055||mrxs13 C566875|300055||ppmx C536269||radio ulnar synostosis type 2 C565719|610143||deafness autosomal recessive 62 C565719|610143||dfnb62 C562386|145500||hypertension essential C562386|145500||eht C562386|145500||hypertension essential body mass related C562386|145500||hypertension essential kidney function related C562386|145500||hypertension essential susceptibility to 1 C562386|145500||hypertension essential susceptibility to 2 C562386|145500||hypertension essential susceptibility to 3 C562386|145500||hypertension essential susceptibility to 4 C562386|145500||hypertension essential susceptibility to 5 C562386|145500||hypertension essential susceptibility to 6 C562386|145500||hypertension essential susceptibility to 7 C562386|145500||hypertension essential susceptibility to 8 C562386|145500||hyt1 C562386|145500||hyt2 C562386|145500||hyt3 C562386|145500||hyt4 C562386|145500||hyt5 C562386|145500||hyt6 C562386|145500||hyt7 C562386|145500||hyt8 C567355|612300||cd59 deficiency C567355|612300||hacd59 C567355|612300||hemolytic anemia cd59 mediated with or without immune mediated polyneuropathy C536286||immotile cilia syndrome due to defective radial spokes C536286||ciliary dyskinesia with defective radial spokes C536286||cilia with defective radial spokes C536283||idiopathic subglottic tracheal stenosis C536284||iida kannari syndrome C536284||craniosynostosis with joint contractures ear deformity cleft palate scoliosis and other features D014592||uterine hemorrhage D014592||bleedings vaginal D014592||bleeding uterine D014592||bleeding vaginal D014592||hemorrhage uterine D014592||uterine bleeding D014592||uterine bleedings D014592||uterine hemorrhages D014592||vaginal bleeding D014592||vaginal bleedings D014591||uterine diseases D014591||disease endometrial D014591||diseases endometrial D014591||diseases uterine D014591||disease uterine D014591||endometrial disease D014591||endometrial diseases D014591||uterine disease C536287||immotile cilia syndrome due to excessively long cilia C536287||ciliary dyskinesia with excessively long cilia C536288||thymic aplasia C536288||immune defect due to absence of thymus C536288||nezelof syndrome 219100||cutis laxa autosomal recessive type ia 219100||arcl1 219100||arcl1a 219100|C562628||cutis laxa autosomal recessive D025242||spondylarthropathies D025242||spondylarthropathy D025242||spondylitis marie strumpell D025242||spondyloarthropathies D025242||spondyloarthropathy D025242||syndrome bechterew D025241||spondylarthritis D025241||arthritis spinal D025241||spinal arthritides D025241||spinal arthritis D025241||spondylarthritides C536281||idiopathic pulmonary hemosiderosis C536281||alveolar hypoventilation syndrome C536281||hemosiderosis pulmonary with deficiency of gamma a globulin C536281||pulmonary hemosiderosis C536282||pulmonary arterial hypertension C536282||familial primary pulmonary hypertension C536282||idiopathic pulmonary arterial hypertension C536282||idiopathic pulmonary hypertension C536282||pph1 with hht C536282||primary pulmonary hypertension C536282||pulmonary hypertension primary 1 with hereditary hemorrhagic telangiectasia C536282||pulmonary hypertension primary dexfenfluramine associated C536282||pulmonary hypertension primary fenfluramine associated C566533|602499||macrophthalmia colobomatous with microcornea C566533|602499||macom C562538||cerebrocostomandibular syndrome C562538||ccm syndrome C562538||cerebrocostomandibular like syndrome C562538||rib gap defects with micrognathia D001282||atrial flutter D001282||atrial flutters D001282||auricular flutter D001282||auricular flutters D001282||flutter atrial D001282||flutter auricular D001282||flutters atrial D001282||flutters auricular D001281||atrial fibrillation D001281||atrial fibrillations D001281||auricular fibrillation D001281||auricular fibrillations D001281||familial atrial fibrillation D001281||fibrillation atrial D001281||fibrillation auricular D001281||fibrillations atrial D001281||fibrillations auricular C535919|302800||charcot marie tooth disease x linked 1 C535919|302800||charcot marie tooth disease x linked dominant 1 C535919|302800||charcot marie tooth neuropathy x linked 1 C535919|302800||charcot marie tooth peroneal muscular atrophy x linked C535919|302800||cmt2 formerly C535919|302800||cmtx C535919|302800||cmtx1 C535919|302800||cmtx 1 C535919|302800||hereditary motor and sensory neuropathy x linked C535919|302800||hmsn x linked 131100|D018761||multiple endocrine neoplasia type 1 131100|D018761||mea 1 131100|D018761||mea i 131100|D018761||men1 131100|D018761||men 1 131100|D018761||men i 131100|D018761||multiple endocrine neoplasia type i 131100|D018761||multiple endocrine neoplasms type 1 131100|D018761||neoplasia multiple endocrine type 1 131100|D018761||neoplasms multiple endocrine type 1 131100|D018761||neoplasms multiple endocrine type i 131100|D018761||wermer syndrome 131100|D018761||wermer syndrome men1 somatic mutations included C562681|250850||methionine adenosyltransferase deficiency C562681|250850||hypermethioninemia isolated persistent C562681|250850||mat i iii deficiency 607876||adcme 607876||cortical myoclonic tremor with epilepsy familial 2 607876||fcmte2 D014582||urticaria pigmentosa D014582||cutaneous mastocytoses maculopapular D014582||cutaneous mastocytosis maculopapular D014582||maculopapular cutaneous mastocytoses D014582||maculopapular cutaneous mastocytosis C567930|613096||spastic paraplegia 36 autosomal dominant C567930|613096||spg36 C563703|609535||drug metabolism poor cyp2c19 related C563703|609535||clopidogrel poor metabolism of included C563703|609535||mephenytoin poor metabolism of included C563703|609535||opremazole poor metabolism of included C563703|609535||proguanil poor metabolism of included C563871||microcephaly primary autosomal recessive 5 C563870||neuropathy hereditary sensory and autonomic adult onset with anosmia D052958||tarlov cysts D052958||cyst perineural D052958||cyst perineurial D052958||cyst sacral perineural D052958||cysts perineural D052958||cysts perineurial D052958||cysts sacral perineural D052958||cysts sacral tarlov D052958||cysts tarlov D052958||perineural cyst D052958||perineural cysts D052958||perineurial cyst D052958||perineurial cysts D052958||sacral perineural cyst D052958||sacral perineural cysts D052958||sacral tarlov cysts C536297||male sterility due to y chromosome deletions C536297||partial deletion of chromosome y C536297||partial deletion of the long arm of the y chromosome C536297||partial deletion of y C536297||partial deletion of y chromosome short arm C536297||y chromosome deletions C536297||y chromosome microdeletions C562543||german syndrome D013271||gastric dilatation D013271||dilatation gastric D013271||dilatation stomach D013271||dilation gastric D013271||dilation stomach D013271||gastric dilation D013271||stomach dilatation D013271||stomach dilation D013272||stomach diseases D013272||disease gastric D013272||diseases gastric D013272||diseases stomach D013272||disease stomach D013272||gastric disease D013272||gastric diseases D013272||stomach disease C536298||partial lissencephaly C536298||focal agyria pachygyria C536298||incomplete lissencephaly C563774|609218||foveal hypoplasia and anterior segment dysgenesis C563774|609218||fhonda C563774|609218||foveal hypoplasia 2 C563774|609218||foveal hypoplasia optic nerve decussation defects and anterior segment dysgenesis without albinism C563774|609218||foveal hypoplasia with or without optic nerve misrouting and or anterior segment dysgenesis C563774|609218||fvh2 C536299||partington anderson syndrome 128101|C536698||whispering dysphonia hereditary 128101|C536698||dyt4 128101|C536698||hereditary whispering dysphonia C536743|300076||woods black norbury syndrome C536743|300076||immunoneurologic disorder x linked C536743|300076||neonatal death immune deficiency C536743|300076||x linked immunoneurological disorder D009765|601665||obesity D009765|601665||leanness included C562548||clavicle pseudarthrosis of congenital D001284||atrophy D001284||atrophies C563876||aicar transformylase inosine monophosphate cyclohydrolase deficiency C563876|608688||aica ribosuria due to atic deficiency C562546||megalodactyly C562546||macrodactyly C536292||jorgenson lenz syndrome C536292||blepharophimosis radioulnar synostosis C536292||mild short stature microcephaly ptosis blepharophimosis facial asymmetry and radioulnar synostosis C536292||ptosis prognathism microcephaly radio ulnar synostosis short stature dwarfism D049309||acanthoma D049309||acanthoma clear cell D049309||acanthoma degos D049309||acanthoma pilar sheath D049309||acanthomas D049309||acanthomas clear cell D049309||acanthomas pilar sheath D049309||clear cell acanthoma D049309||clear cell acanthomas D049309||degos acanthoma D049309||pilar sheath acanthoma D049309||pilar sheath acanthomas 251290||band like calcification with simplified gyration and polymicrogyria 251290||blcpmg C563134|302500||spinocerebellar ataxia x linked 1 C563134|302500||olivopontocerebellar atrophy x linked C563134|302500||opcax C563134|302500||opca x linked C563134|302500||scax1 D064927||tick bites D064927||bites tick D064927||bite tick D064927||tick bite D014596||uterine prolapse D014596||prolapses uterine D014596||prolapses vaginal D014596||prolapse uterine D014596||prolapse vaginal D014596||uterine prolapses D014596||vaginal prolapse D014596||vaginal prolapses D014595||uterine perforation D014595||perforations uterine D014595||perforation uterine D014595||uterine perforations 605201||high density lipoprotein cholesterol level quantitative trait locus 14 605201||hdlcq14 D014594||uterine neoplasms D014594||cancer of the uterus D014594||cancer of uterus D014594||cancers uterine D014594||cancers uterus D014594||cancer uterine D014594||cancer uterus D014594||neoplasms uterine D014594||neoplasms uterus D014594||neoplasm uterine D014594||neoplasm uterus D014594||uterine cancer D014594||uterine cancers D014594||uterine neoplasm D014594||uterus cancer D014594||uterus cancers D014594||uterus neoplasm D014594||uterus neoplasms D014593||uterine inertia D014593||atony uterine D014593||inertia uterine D014593||uterine atony C565121|124900||deafness autosomal dominant 1 C565121|124900||deafness progressive low tone C565121|124900||dfna1 C565121|124900||hereditary low frequency hearing loss C565121|124900||konigsmark syndrome C565121|124900||lfhl1 D014597||uterine rupture D014597||ruptures uterine D014597||rupture uterine D014597||uterine ruptures D051516||hemospermia D051516||hematospermia C537671||chromosome 1 monosomy 1q32 q42 C537671||deletion 1q32 q42 C537671||monosomy 1q32 q42 132850||epstein barr virus insertion site 1 ebvs1 epstein barr virus integration site C536341||porphyria chester type C537672||chromosome 1 monosomy 1q4 C537672||deletion 1q4 C537672||monosomy 1q4 C537670||behrens baumann dust syndrome C537670||oculo cerebral dysplasia C563963||fryns macrocephaly C563963||macrocephaly with spastic paraplegia and distinctive craniofacial appearance C536344||vertebral fusion posterior lumbosacral blepharoptosis C536344||congenital ptosis and posterior fusion of lumbosacral vertebrae C536344||familial posterior lumbosacral vertebral fusion and eyelid ptosis C536344||vertebral fusion posterior lumbosacral with blepharoptosis C537675||gaucher like disease C537675||pseudo gaucher disease C537676||gay feinmesser cohen syndrome C537676||laryngeal web congenital heart disease and low stature C537676||subglottic bar congenital heart disease and low stature C536342||posterior column ataxia C536342||biemond ataxia C565062|129900||ectrodactyly ectodermal dysplasia and cleft lip palate syndrome 1 C565062|129900||eec C565062|129900||eec1 C565062|129900||eec syndrome 1 C563966||pick complex C563965||peroxisome biogenesis disorder complementation group j C536488|602097||usher syndrome type 1e C536488|602097||ush1e C563964||peroxisome biogenesis disorder complementation group 14 613610||cranioectodermal dysplasia 2 613610||ced2 C563969||aplasia cutis congenita with epibulbar dermoids C563969||oculoectodermal syndrome 613611||choanal atresia and lymphedema 604278|C567038||renal tubular acidosis proximal with ocular abnormalities and mental retardation 604278|C567038||rta proximal autosomal recessive 613612||congenital disorder of glycosylation type iii 613612||cdg2i 613612||cdgiii 613612||cdg iii C537419|605039||bohring syndrome C537419|605039||bohring opitz syndrome C537419|605039||bops C537419|605039||c like syndrome C537419|605039||opitz trigonocephaly like syndrome D014689||venous insufficiency D014689||insufficiencies venous D014689||insufficiency venous D014689||venous insufficiencies C537682|190100||geniospasm C537682|190100||geniospasm 1 C537682|190100||gsm1 C537682|190100||hereditary geniospasm C537682|190100||trembling chin 613606||forsythe wakeling syndrome 613606||fws 613606||microcephaly and growth retardation with childhood onset nephrotic syndrome and thrombocytopenia D026681||vitamin b 6 deficiency D026681||b6 deficiencies vitamin D026681||b6 deficiency vitamin D026681||b6 vitamin deficiencies D026681||b6 vitamin deficiency D026681||deficiencies b6 vitamin D026681||deficiencies vitamin b6 D026681||deficiency b6 vitamin D026681||deficiency pyridoxine D026681||deficiency vitamin b6 D026681||deficiency vitamin b 6 D026681||pyridoxine deficiency D026681||vitamin b6 deficiencies D026681||vitamin b6 deficiency D026681||vitamin deficiencies b6 D026681||vitamin deficiency b6 C565757|610926||tooth agenesis selective 5 C565757|610926||he zhao deficiency C565757|610926||hypodontia oligodontia 5 C565757|610926||sthag5 D013352||subcutaneous emphysema D013352||emphysemas subcutaneous D013352||emphysema subcutaneous D013352||subcutaneous emphysemas C537668||beemer ertbruggen syndrome C537668||beemer lethal malformation syndrome C536161|148600||keratosis palmoplantaris papulosa C536161|148600||buschke fischer brauer syndrome C536161|148600||keratoderma palmoplantar punctate type 1 C536161|148600||keratoderma palmoplantar punctate type i C536161|148600||keratodermia palmoplantaris papulosa buschke fischer brauer type C536161|148600||kppp1 C536161|148600||palmoplantar keratoderma punctate type i C536161|148600||palmoplantar keratoderma punctate type ia C536161|148600||ppkp1 C536161|148600||ppkp1a C536161|148600||type i punctate palmoplantar keratoderma D013353||subdural effusion D013353||cerebrospinal fluid effusion subdural D013353||cerebrospinal fluid leakage subdural D013353||effusion subdural D013353||hygroma subdural D013353||subdural cerebrospinal fluid effusion D013353||subdural cerebrospinal fluid leakage D013353||subdural hygroma C537669||behr syndrome C537669||optic atrophy infantile hereditary behr complicated form of C537669||optic atrophy infantile hereditary with neurologic abnormalities D058494|236670||walker warburg syndrome D058494|236670||alpha dystroglycanopathies D058494|236670||cerebromuscular dystrophy fukuyama type D058494|236670||cerebroocular dysplasia muscular dystrophy syndrome D058494|236670||chemke syndrome D058494|236670||cmd fukuyama D058494|236670||cod md syndrome D058494|236670||cod md syndromes D058494|236670||congenital muscular dystrophy dystroglycanopathy with brain and eye anomalies type a1 D058494|236670||disease pomt1 related muscle eye brain D058494|236670||diseases pomt1 related muscle eye brain D058494|236670||dystrophy fukuyama muscular D058494|236670||fukuyama cmd D058494|236670||fukuyama muscular dystrophy D058494|236670||fukuyama syndrome D058494|236670||fukuyama type congenital muscular dystrophy D058494|236670||hard syndrome D058494|236670||hard syndromes D058494|236670||hydrocephalus agyria and retinal dysplasia D058494|236670||mddga1 D058494|236670||mddga3 D058494|236670||meb muscle eye brain syndrome D058494|236670||micropolygyria with muscular dystrophy D058494|236670||muscle eye brain disease D058494|236670||muscle eye brain disease pomt1 related D058494|236670||muscle eye brain diseases D058494|236670||muscle eye brain diseases pomt1 related D058494|236670||muscular dystrophy congenital fukuyama type D058494|236670||muscular dystrophy dystroglycanopathy congenital with brain and eye anomalies type a 1 D058494|236670||muscular dystrophy dystroglycanopathy congenital with brain and eye anomalies type a 3 D058494|236670||muscular dystrophy fukuyama D058494|236670||muscular dystrophy limb girdle autosomal recessive with mental retardation D058494|236670||pagon syndrome D058494|236670||pagon syndromes D058494|236670||polymicrogyria with muscular dystrophy D058494|236670||pomt1 related muscle eye brain disease D058494|236670||pomt1 related muscle eye brain diseases D058494|236670||syndrome chemke D058494|236670||syndrome cod md D058494|236670||syndrome fukuyama D058494|236670||syndrome hard D058494|236670||syndrome pagon D058494|236670||syndromes cod md D058494|236670||syndromes hard D058494|236670||syndromes pagon D058494|236670||syndrome walker warburg D058494|236670||syndrome warburg D058494|236670||walker warburg syndrome or muscle eye brain disease pomgnt1 related D058494|236670||walker warburg syndrome or muscle eye brain disease pomt1 related D058494|236670||warburg syndrome C537666||becker and duchenne dystrophies C536336||porencephaly cerebellar hypoplasia malformations C536336||porencephaly cerebellar hypoplasia and internal malformations C537667||bednar apos s tumor C537667||pigmented dermatofibrosarcoma protuberans D014681||velopharyngeal insufficiency D014681||inadequate velopharyngeal closure D014681||incompetence palatopharyngeal D014681||incompetence velopharyngeal D014681||insufficiency velopharyngeal D014681||palatopharyngeal incompetence D014681||velopharyngeal closures inadequate D014681||velopharyngeal incompetence D013354||empyema subdural D013354||abscess intracranial subdural D013354||subdural empyema D013354||subdural empyemas D014685||venereal tumors veterinary D014685||transmissible venereal tumor D014685||transmissible venereal tumors D014685||tumors transmissible venereal D014685||tumors veterinary venereal D014685||tumor transmissible venereal D014685||tumor veterinary venereal D014685||venereal tumors transmissible D014685||venereal tumor transmissible D014685||venereal tumor veterinary D014685||veterinary venereal tumor D014685||veterinary venereal tumors D051527||odontogenic tumor squamous D051527||odontogenic tumors squamous D051527||squamous odontogenic tumor D051527||squamous odontogenic tumors D051527||tumor squamous odontogenic D051527||tumors squamous odontogenic D052858||cystocele D052858||fallen urinary bladder D052858||prolapse urinary bladder D052858||urinary bladder prolapse C537683||genito palato cardiac syndrome C537683||gardner silengo wachtel syndrome C537683||genitopalatocardiac syndrome C537683||male pseudohermaphroditism with micrognathia cleft palate and conotruncal cardiac defect C537680||genee wiedemann syndrome C537680||genee wiedemann acrofacial dysostosis C537680||miller syndrome C537680||poads syndrome C537680||postaxial acrofacial dysostosis C537680||postaxial acrofacial dysostosis poads C537680||postaxial acrofacial dysostosis poads syndrome C537680||wildervanck smith syndrome C536350||visceral myopathy familial external ophthalmoplegia C536350||intestinal pseudoobstruction with external ophthalmoplegia C536350||muscular dystrophy oculogastrointestinal C536350||visceral myopathy familial with external ophthalmoplegia C563974||cleidocranial dysplasia forme fruste dental anomalies only C562642||amyloidosis primary cutaneous C562642||primary localized cutaneous amyloidosis C563973||hydrocephalus autosomal dominant C536356||anemia hereditary spherocytic hemolytic C536356||acholuric jaundice C536356||chronic acholuric jaundice C536356||congenital hemolytic jaundice C536356||debrie apos s familial haemolytic disease C536356||minkowski chauffard disease C536356||minkowski chauffard g 228 nsslen syndrome C536356||minkowski chauffard haemolytic jaundice C563972||colorectal cancer hereditary nonpolyposis type 3 C563972||hnpcc3 C537684||genoa syndrome C537684||camera lituania cohen syndrome C537684||holoprosencephaly craniosynostosis C537684||holoprosencephaly semilobar with craniosynostosis C537684||semilobar holoprosencephaly and primary craniosynostosis C563971||colorectal cancer hereditary nonpolyposis type 4 C563971||hnpcc4 C536354||vocal cord dysfunction familial C536354||familial vocal cord dysfunction C536354||gerhardt syndrome C536354||laryngeal abductor paralysis C536354||plott syndrome C537685||genu valgum st helena familial C537685||genu valgum hereditary pubertal C537685||hereditary pubertal genu valgum C537685||st helena familial genu valgum C563978||ichthyosis exfoliativa D000052||acanthosis nigricans D000052||acanthosis nigrican D000052||nigrican acanthosis D000052||nigricans acanthosis C562644||amyloidosis cutaneous bullous D000051||acantholysis D000051||acantholyses C562645||acid phosphatase deficiency D013369||subphrenic abscess D013369||abscesses subdiaphragmatic D013369||abscesses subphrenic D013369||abscess subdiaphragmatic D013369||abscess subphrenic D013369||subdiaphragmatic abscess D013369||subdiaphragmatic abscesses D013369||subphrenic abscesses 115210|C566168||cardiomyopathy familial restrictive 1 115210|C566168||rcm 115210|C566168||rcm1 105120|C537459||meretoja syndrome 105120|C537459||amyloid cranial neuropathy with lattice corneal dystrophy 105120|C537459||amyloidosis 5 105120|C537459||amyloidosis due to mutant gelsolin 105120|C537459||amyloidosis due to mutant gelsolin cerebral amyloid angiopathy gsn related included 105120|C537459||amyloidosis finnish type 105120|C537459||amyloidosis meretoja type 105120|C537459||amyloidosis v 105120|C537459||cerebral amyloid angiopathy gsn related 105120|C537459||corneal dystrophy lattice type ii 105120|C537459||corneal dystrophy lattice type ii included 105120|C537459||familial amyloidosis finnish type 105120|C537459||finnish type amyloidosis 105120|C537459||gelsolin related amyloidosis 105120|C537459||kymenlaakso syndrome 105120|C537459||lattice corneal dystrophy associated with familial systemic amyloidosis 105120|C537459||lattice corneal dystrophy gelsolin type 105120|C537459||lattice corneal dystrophy type ii 105120|C537459||lattice corneal dystrophy type ii included 105120|C537459||lattice dystrophy of the cornea with hereditary generalized amyloidosis 105120|C537459||lcd2 included 105120|C537459||meretoja apos s syndrome 105120|C537459||meretoja type amyloidosis C563408|601001||epidermolysis bullosa simplex autosomal recessive C563408|601001||ebsb1 C563408|601001||epidermolysis bullosa simplex autosomal recessive 1 C536348||vibrio vulnificus infection C537679||gemss syndrome C537679||glaucoma ectopia microspherophakia stiff joints short stature syndrome D013364||submandibular gland diseases D013364||diseases submandibular gland D013364||disease submandibular gland D013364||gland diseases submandibular D013364||gland disease submandibular D013364||submandibular gland disease C536349||viljoen kallis voges syndrome D014694||ventricular outflow obstruction D014694||left ventricular outflow obstruction D014694||obstructions ventricular outflow D014694||obstruction ventricular outflow D014694||outflow obstruction left ventricular D014694||outflow obstruction right ventricular D014694||outflow obstructions ventricular D014694||outflow obstruction ventricular D014694||right ventricular outflow obstruction D014694||ventricular outflow obstruction left D014694||ventricular outflow obstruction right D014694||ventricular outflow obstructions D038642||shaken baby syndrome C536346||vestibulocochlear dysfunction progressive C536346||familial progressive vestibulo cochlear dysfunction C536346||familial progressive vestibulocochlear dysfunction C536346||vestibulocochlear dysfunction progressive familial D012030||refractive errors D012030||ametropia D012030||ametropias D012030||disorder refractive D012030||disorders refractive D012030||error refractive D012030||errors refractive D012030||refractive disorder D012030||refractive disorders D012030||refractive error D014693||ventricular fibrillation D014693||fibrillations ventricular D014693||fibrillation ventricular D014693||ventricular fibrillations C565703|610202||cataract pulverulent juvenile onset C565703|610202||cataract 21 multiple types C565703|610202||cataract 21 multiple types with or without microcornea C565703|610202||cataract congenital cerulean type 4 C565703|610202||cca4 C565703|610202||ctrct21 D013362||sublingual gland neoplasms D013362||gland neoplasms sublingual D013362||gland neoplasm sublingual D013362||neoplasms sublingual gland D013362||neoplasm sublingual gland D013362||sublingual gland neoplasm C536347||vibratory angioedema C536347||angioedema vibratory C537678||gemignani syndrome C537678||spinocerebellar ataxia associated with localized amyotrophy of the hands sensorineural deafness and spastic paraparesis D013365||submandibular gland neoplasms D013365||gland neoplasms submandibular D013365||gland neoplasm submandibular D013365||neoplasms submandibular gland D013365||neoplasm submandibular gland D013365||submandibular gland neoplasm C536362||angiofollicular ganglionic hyperplasia C537694||jung wolff back stahl syndrome C537694||anterior chamber cleavage disorder cerebellar hypoplasia hypothyroidism and tracheal stenosis D000027||abortion incomplete D000027||abortions incomplete D000027||incomplete abortion D000027||incomplete abortions D001357||sarcoma avian D001357||avian sarcoma D001357||avian sarcomas D001357||rous sarcoma D001357||sarcoma rous D001357||sarcomas avian D000026||abortion habitual D000026||abortion recurrent D000026||abortions habitual D000026||abortions recurrent D000026||habitual abortion D000026||habitual abortions D000026||miscarriage recurrent D000026||miscarriages recurrent D000026||recurrent abortion D000026||recurrent abortions D000026||recurrent miscarriage D000026||recurrent miscarriages C536361||angel shaped phalangoepiphyseal dysplasia C536361||angel shaped phalango epiphyseal dysplasia C537692||judge misch wright syndrome C537692||dry skin photophobia hyperkeratosis abnormal fingernails C537692||keratodermia palmoplantar periorificial C537692||palmoplantar and perioroficial keratoderma with corneal epithelial dysplasia C563941||pectus excavatum macrocephaly short stature dysplastic nails C563940||angiokeratoma corporis diffusum with arteriovenous fistulas C536367||angiomatosis diffuse corticomeningeal of divry and van bogaert C536364||angioma hereditary neurocutaneous C536364||hereditary neurocutaneous angioma C536365||angioma serpiginosum autosomal dominant C536365||autosomal dominant angioma serpiginosum C537696||juvenile gout C537696||familial gout kidney disease C537696||familial gouty nephropathy C537696|162000||familial juvenile hyperuricemic nephropathy C537696|162000||gouty nephropathy familial juvenile C537696|162000||hyperuricemic nephropathy familial juvenile C537696|162000||hyperuricemic nephropathy familial juvenile 1 C537696||medullary cystic kidney disease type 2 C537696|162000||nephropathy familial with gout C537696||umod related kidney disease C537696||uromodulin associated kidney disease C537696||uromodulin storage disease C563942||aphalangia partial with syndactyly and duplication of metatarsal iv C536016|600972||achondrogenesis type 1b C536016|600972||acg1b C536016|600972||achondrogenesis fraccaro type C536016|600972||achondrogenesis type ib C536016|600972||fraccaro achondrogenesis C563949||enteropathy familial with villous edema and immunoglobulin g2 deficiency C563948|C538417|271150||spinal muscular atrophy type iv C563948|C538417|271150||spinal muscular atrophy adult form C563948|C538417|271150||spinal muscular atrophy proximal adult autosomal recessive C564743|277410||methylmalonic aciduria and homocystinuria cbld type C564743|277410||homocystinuria cbld type variant 1 C564743|277410||methylmalonic acidemia and homocystinuria cbld type C564743|277410||methylmalonic acidemia and homocystinuria cbld type homocystinuria cbld type variant 1 included C564743|277410||methylmalonic acidemia cblh type formerly C564743|277410||methylmalonic aciduria cbld type variant 2 C564743|277410||methylmalonic aciduria cbld type variant 2 included C564743|277410||methylmalonic aciduria cblh type formerly C537690||juberg hayward syndrome C537690||cleft lip palate with abnormal thumbs and microcephaly C537690||ofds viii C537690||oral facial digital syndrome type viii C537690||oral facial digital syndrome with hypoplastic epiglottis C537690||orocraniodigital syndrome C563947||pachydermodactyly familial 607671|C564354||dystonia 13 torsion 607671|C564354||dystonia 13 torsion autosomal dominant 607671|C564354||dyt13 D001353||avian leukosis D001353||avian leukoses D001353||leukoses avian D001353||leukosis avian D000022||abortion spontaneous D000022||abortions spontaneous D000022||abortions tubal D000022||abortion tubal D000022||miscarriage D000022||miscarriages D000022||spontaneous abortion D000022||spontaneous abortions D000022||tubal abortion D000022||tubal abortions C536173|600231||diffuse palmoplantar keratoderma bothnian type C536173|600231||palmoplantar keratoderma bothnian type C536173|600231||ppkb D012008||recurrence D012008||recrudescence D012008||recrudescences D012008||recurrences D012008||relapse D012008||relapses C536826|137950||glomerulopathy with fibronectin deposits C536826|137950||fibronectin glomerulopathy C536826|137950||gfnd1 C536826|137950||gfnd2 C536826|137950||glomerular nephritis familial with fibronectin deposits C536826|137950||glomerulopathy with fibronectin deposits 2 D016142|236100||holoprosencephaly D016142|236100||alobar holoprosencephalies D016142|236100||alobar holoprosencephaly D016142|236100||arhinencephalies D016142|236100||arhinencephaly D016142|236100||arhinencephaly holoprosencephaly 1 included D016142|236100||cyclopia included D016142|236100||demyer sequence included D016142|236100||holoprosencephalies D016142|236100||holoprosencephalies alobar D016142|236100||holoprosencephalies lobar D016142|236100||holoprosencephalies semilobar D016142|236100||holoprosencephaly alobar D016142|236100||holoprosencephaly familial alobar D016142|236100||holoprosencephaly lobar D016142|236100||holoprosencephaly semilobar D016142|236100||hpe1 included D016142|236100||hpec D016142|236100||hpe familial D016142|236100||lobar holoprosencephalies D016142|236100||lobar holoprosencephaly D016142|236100||semilobar holoprosencephalies D016142|236100||semilobar holoprosencephaly D012005||anus prolapse D012005||anus prolapses D012005||prolapse anus D012005||prolapse rectal D012005||prolapses anus D012005||prolapses rectal D012005||rectal prolapses D002690||chlamydia infections D002690||chlamydia infection D002690||infection chlamydia D002690||infections chlamydia D012006||rectovaginal fistula D012006||fistula rectovaginal D012006||fistulas rectovaginal D012006||rectovaginal fistulas 252010|C537475||mitochondrial complex i deficiency 252010|C537475||mitochondrial nadh dehydrogenase component of complex i deficiency of 252010|C537475||nadh coenzyme q reductase deficiency 252010|C537475||nadh q 1 oxidoreductase deficiency C566908|611603||lissencephaly 3 C566908|611603||lis3 D013330||struma ovarii C536359||anencephaly and spina bifida x linked C536359||x linked anencephaly spina bifida C567087|611777||brugada syndrome 2 C567087|611777||brgda2 C536357||anemia hypochromic microcytic D012003||rectal fistula D012003||anal fistula D012003||fistula rectal D012004||rectal neoplasms D012004||cancer of rectum D012004||cancer of the rectum D012004||cancer rectal D012004||cancer rectum D012004||cancers rectal D012004||cancers rectum D012004||neoplasm rectal D012004||neoplasm rectum D012004||neoplasms rectal D012004||neoplasms rectum D012004||rectal cancer D012004||rectal cancers D012004||rectal neoplasm D012004||rectal tumor D012004||rectal tumors D012004||rectum cancer D012004||rectum cancers D012004||rectum neoplasm D012004||rectum neoplasms D012004||tumor rectal D012004||tumors rectal D012001||hyperacusis D012001||auditory hyperesthesia D012001||auditory hyperesthesias D012001||disturbance loudness perception D012001||disturbances loudness perception D012001||hyperacuses D012001||hyperacusia D012001||hyperacusias D012001||hyperesthesia auditory D012001||hyperesthesias auditory D012001||loudness perception disturbance D012001||loudness perception disturbances D012001||loudness recruitment D012001||loudness recruitments D012001||perception disturbance loudness D012001||perception disturbances loudness D012001||phonophobia D012001||phonophobias D012001||recruitment loudness D012002||rectal diseases D012002||disease rectal D012002||diseases rectal D012002||rectal disease D000039||peritonsillar abscess D000039||abscesses peritonsillar D000039||abscess peritonsillar D000039||peritonsillar abscesses D052878||urolithiasis D052878||lithiasis urinary D052878||urinary lithiasis D000038||abscess D000038||abscesses C537486|605229||spastic paraplegia 14 autosomal recessive C537486|605229||spg14 D052879||subacute combined degeneration D052879||neuropathy subacute combined degeneration D052879||subacute combined neuropathy degeneration D000037||abruptio placentae D000037||abruption placental D000037||abruptions placental D000037||placental abruption D000037||placental abruptions C567194|612715||dyschromatosis universalis hereditaria 2 C567194|612715||duh2 C563952||succinic acidemia C563951||parotid salivary glands polycystic disease of C536378||anonychia onychodystrophy C536378||absent nails and dystrophic nails C563950||band heterotopia of brain 245400||mitochondrial dna depletion syndrome 9 encephalomyopathic type with methylmalonic aciduria 245400||lactic acidosis fatal infantile formerly 245400||mtdps9 C536375||abnormal fusion of dental cementum with alveolar bone C536375||molar i reinclusion C536375||secondary retention of permanent molars C566475|610444||night blindness congenital stationary autosomal dominant 3 C566475|610444||csnbad3 C566475|610444||night blindness congenital stationary nougaret type D000031||abortion septic D000031||abortions septic D000031||septic abortion D000031||septic abortions C563954||motor neuron disease with dementia and ophthalmoplegia D001361||avitaminosis D001361||avitaminoses D001361||deficiencies vitamin D001361||deficiency vitamin D001361||vitamin deficiencies D001361||vitamin deficiency D000030||abortion missed D000030||abortions missed D000030||missed abortion D000030||missed abortions C535277|606763||primary ciliary dyskinesia 2 C535277|606763||cild2 C535277|606763||ciliary dyskinesia primary 2 C535277|606763||ciliary dyskinesia primary 2 with or without situs inversus C562628||cutis laxa autosomal recessive type i C562629||hemolytic anemia congenital with emphysema and cutis laxa C562629||cutis laxa emphysema and hemolytic anemia D000034||abortion veterinary D000034||abortions veterinary D000034||veterinary abortion D000034||veterinary abortions D000033||abortion threatened D000033||abortions threatened D000033||threatened abortion D000033||threatened abortions C562627||cutis laxa autosomal dominant D002694||chlamydiaceae infections D002694||chlamydiaceae infection D002694||infection chlamydiaceae D002694||infections chlamydiaceae D013349||subclavian steal syndrome D013349||artery stenoses subclavian D013349||artery stenosis subclavian D013349||basilar steal syndrome D013349||basilar steal syndromes D013349||brachial basilar insufficiency syndrome D013349||brachial basilar insufficiency syndromes D013349||insufficiency syndrome brachial basilar D013349||insufficiency syndromes brachial basilar D013349||phenomenon subclavian steal D013349||steal phenomenon subclavian D013349||steal subclavian D013349||steal syndrome basilar D013349||steal syndromes basilar D013349||steal syndromes subclavian D013349||steal syndrome subclavian D013349||stenoses subclavian artery D013349||stenosis subclavian artery D013349||subclavian artery stenoses D013349||subclavian artery stenosis D013349||subclavian carotid artery steal syndrome D013349||subclavian steal D013349||subclavian steal phenomenon D013349||subclavian steal syndromes D013349||syndrome brachial basilar insufficiency D013349||syndromes brachial basilar insufficiency D012019||reflex sympathetic dystrophy D012019||algodystrophic syndrome D012019||algodystrophies D012019||algodystrophy D012019||atrophies sudek apos s D012019||atrophy sudek D012019||atrophy sudek apos s D012019||cervical sympathetic dystrophies D012019||cervical sympathetic dystrophy D012019||complex regional pain syndrome type i D012019||cprs type i D012019||cprs type is D012019||dystrophies cervical sympathetic D012019||dystrophies reflex sympathetic D012019||dystrophy cervical sympathetic D012019||dystrophy reflex sympathetic D012019||i cprs type D012019||is cprs type D012019||pain syndrome type i complex regional D012019||pain syndrome type i regional complex D012019||reflex dystrophia sympathetic D012019||reflex sympathetic dystrophies D012019||reflex sympathetic dystrophy syndrome D012019||rsd reflex sympathetic dystrophy D012019||rsds reflex sympathetic dystrophy D012019||shoulder hand syndrome D012019||shoulder hand syndromes D012019||sudek atrophy D012019||sudek apos s atrophies D012019||sudek apos s atrophy D012019||sudeks atrophy D012019||sympathetic dystrophies cervical D012019||sympathetic dystrophies reflex D012019||sympathetic dystrophy cervical D012019||sympathetic dystrophy reflex D012019||sympathetic reflex dystrophia D012019||sympathetic reflex dystrophias D012019||syndrome algodystrophic D012019||syndrome reflex sympathetic dystrophy D012019||syndrome shoulder hand D012019||syndromes shoulder hand D012019||type i complex regional pain syndrome D012019||type i cprs D012019||type is cprs 215700|D020159||citrullinemia 215700|D020159||argininosuccinate synthase deficiency disease 215700|D020159||argininosuccinate synthetase deficiencies 215700|D020159||argininosuccinate synthetase deficiency 215700|D020159||argininosuccinic acid synthase deficiency disease 215700|D020159||argininosuccinic acid synthetase deficiency 215700|D020159||argininosuccinic acid synthetase deficiency complete 215700|D020159||argininosuccinic acid synthetase deficiency disease 215700|D020159||argininosuccinic acid synthetase deficiency disease partial 215700|D020159||ass deficiencies 215700|D020159||ass deficiency 215700|D020159||citrullinemia 1 215700|D020159||citrullinemia classic 215700|D020159||citrullinemia classical 215700|D020159||citrullinemia late onset 215700|D020159||citrullinemia neonatal 215700|D020159||citrullinemias 215700|D020159||citrullinemias classic 215700|D020159||citrullinemias classical 215700|D020159||citrullinemias late onset 215700|D020159||citrullinemias neonatal 215700|D020159||citrullinemia type 1 215700|D020159||citrullinemia type i 215700|D020159||citrullinuria 215700|D020159||citrullinurias 215700|D020159||classical citrullinemia 215700|D020159||classical citrullinemias 215700|D020159||classic citrullinemia 215700|D020159||classic citrullinemias 215700|D020159||complete argininosuccinic acid synthetase deficiency disease 215700|D020159||ctln1 215700|D020159||deficiencies argininosuccinate synthetase 215700|D020159||deficiencies ass 215700|D020159||deficiency argininosuccinate synthetase 215700|D020159||deficiency argininosuccinic acid synthetase complete 215700|D020159||deficiency argininosuccinic acid synthetase partial 215700|D020159||deficiency ass 215700|D020159||deficiency disease argininosuccinate synthase 215700|D020159||deficiency disease argininosuccinic acid synthase 215700|D020159||late onset citrullinemia 215700|D020159||late onset citrullinemias 215700|D020159||neonatal citrullinemia 215700|D020159||neonatal citrullinemias 215700|D020159||partial argininosuccinic acid synthetase deficiency disease 215700|D020159||type 1 citrullinemia C562897|267300||renal tubular acidosis distal with progressive nerve deafness C562897|267300||renal tubular acidosis autosomal recessive with progressive nerve deafness C562897|267300||renal tubular acidosis with progressive nerve deafness C562897|267300||rta with progressive nerve deafness D012010||red cell aplasia pure D012010||aplasia erythrocyte D012010||aplasia pure red cell D012010||aplasias erythrocyte D012010||aplasias pure red cell D012010||erythrocyte aplasia D012010||erythrocyte aplasias D012010||pure red cell aplasia D012010||pure red cell aplasias D012010||red cell aplasias pure C567877|612877||cardiomyopathy dilated 1bb C567877|612877||cmd1bb C563212|608611||ribose 5 phosphate isomerase deficiency D013342||stuttering D013342||acquired stuttering D013342||adult stuttering D013342||childhood stuttering D013342||developmental stuttering D013342||stuttering acquired D013342||stuttering adult D013342||stuttering childhood D013342||stuttering developmental C536368||angiosarcoma of the breast C536368||breast angiosarcoma C536369||angiostrongyliasis C536369||abdominal angiostrongyliasis C536369||intravitreal angiostrongyliasis D013345||subarachnoid hemorrhage D013345||aneurysmal subarachnoid hemorrhage D013345||aneurysmal subarachnoid hemorrhages D013345||hemorrhage aneurysmal subarachnoid D013345||hemorrhage intracranial subarachnoid D013345||hemorrhage perinatal subarachnoid D013345||hemorrhages aneurysmal subarachnoid D013345||hemorrhages intracranial subarachnoid D013345||hemorrhages perinatal subarachnoid D013345||hemorrhage spontaneous subarachnoid D013345||hemorrhages spontaneous subarachnoid D013345||hemorrhages subarachnoid D013345||hemorrhage subarachnoid D013345||intracranial subarachnoid hemorrhage D013345||intracranial subarachnoid hemorrhages D013345||perinatal subarachnoid hemorrhage D013345||perinatal subarachnoid hemorrhages D013345||sahs subarachnoid hemorrhage D013345||sah subarachnoid hemorrhage D013345||spontaneous subarachnoid hemorrhage D013345||spontaneous subarachnoid hemorrhages D013345||subarachnoid hemorrhage aneurysmal D013345||subarachnoid hemorrhage intracranial D013345||subarachnoid hemorrhage perinatal D013345||subarachnoid hemorrhages D013345||subarachnoid hemorrhages aneurysmal D013345||subarachnoid hemorrhages intracranial D013345||subarachnoid hemorrhages perinatal D013345||subarachnoid hemorrhage spontaneous D013345||subarachnoid hemorrhages spontaneous C562790|143870||hypercalciuria absorptive 2 C562790|143870||hca2 C562790|143870||hypercalciuria familial idiopathic D013344||subacute sclerosing panencephalitis D013344||encephaltis inclusion body measles D013344||inclusion body encephalitis measles D013344||leukoencephalitides subacute sclerosing D013344||leukoencephalitis subacute sclerosing D013344||leukoencephalitis van bogaert D013344||leukoencephalitis van bogaerts D013344||leukoencephalitis van bogaert apos s D013344||measles inclusion body encephalitis D013344||panencephalitides subacute sclerosing D013344||panencephalitis subacute sclerosing D013344||sclerosing leukoencephalitides subacute D013344||sclerosing leukoencephalitis subacute D013344||sclerosing panencephalitides subacute D013344||sclerosing panencephalitis subacute D013344||sspe D013344||subacute sclerosing leukoencephalitides D013344||subacute sclerosing leukoencephalitis D013344||subacute sclerosing panencephalitides D013344||van bogaert leukoencephalitis D013344||van bogaert apos s leukoencephalitis D013344||van bogaerts leukoencephalitis D000007||abdominal injuries D000007||abdominal injury D000007||injuries abdominal D000007||injury abdominal 611095|C567014||mental retardation autosomal recessive 9 611095|C567014||mental retardation autosomal recessive 26 611095|C567014||mrt26 611095|C567014||mrt9 D000006||abdomen acute D000006||abdomens acute D000006||acute abdomen D000006||acute abdomens 178500|D054990||idiopathic pulmonary fibrosis 178500|D054990||cryptogenic fibrosing alveolitides 178500|D054990||cryptogenic fibrosing alveolitis 178500|D054990||disease hamman rich 178500|D054990||diseases hamman rich 178500|D054990||dysplasia fibrocystic pulmonary 178500|D054990||dysplasias fibrocystic pulmonary 178500|D054990||familial idiopathic pulmonary fibrosis 178500|D054990||fibrocystic pulmonary dysplasia 178500|D054990||fibrocystic pulmonary dysplasias 178500|D054990||fibrosing alveolitides cryptogenic 178500|D054990||fibrosing alveolitis cryptogenic 178500|D054990||hamman rich disease 178500|D054990||hamman rich diseases 178500|D054990||idiopathic fibrosing alveolitis chronic form 178500|D054990||idiopathic pulmonary fibroses 178500|D054990||idiopathic pulmonary fibrosis familial 178500|D054990||interstitial pneumonias usual 178500|D054990||interstitial pneumonia usual 178500|D054990||interstitial pneumonitides usual 178500|D054990||interstitial pneumonitis usual 178500|D054990||interstitial pneumonitis usual uip hamman rich disease included 178500|D054990||ipf 178500|D054990||pneumonitides usual interstitial 178500|D054990||pneumonitis usual interstitial 178500|D054990||pulmonary dysplasia fibrocystic 178500|D054990||pulmonary dysplasias fibrocystic 178500|D054990||pulmonary fibroses idiopathic 178500|D054990||pulmonary fibrosis idiopathic 178500|D054990||usual interstitial pneumonia 178500|D054990||usual interstitial pneumonias 178500|D054990||usual interstitial pneumonitides 178500|D054990||usual interstitial pneumonitis C566915|611561||meckel syndrome type 5 C566915|611561||mks5 C536301||parvovirus antenatal infection C536301||maternofetal infection by parvovirus C536301||parvovirus b19 antenatal infection C537632||bixler christian gorlin syndrome C537632||hmc syndrome C537632||hypertelorism microtia facial clefting syndrome 300799||mental retardation x linked syndromic raymond type 300799||mrxsr D000008||abdominal neoplasms D000008||abdominal neoplasm D000008||neoplasm abdominal D000008||neoplasms abdominal C537630||birdshot chorioretinopathy C563921||congenital corneal opacities cornea guttata and corectopia C563921||corneal opacities congenital with cornea guttata and corectopia 185900|C566096||syndactyly type i 185900|C566096||chromosome 2q35 duplication syndrome 185900|C566096||sd1 185900|C566096||sdty1 185900|C566096||zygodactyly 185900|C566096||zygodactyly craniosynostosis philadelphia type included C563920||alopecia universalis congenita xy gonadal dysgenesis and laryngomalacia D014647||varicose ulcer D014647||hypertension ulcers venous D014647||hypertension ulcer venous D014647||stasis ulcer D014647||stasis ulcers D014647||stasis ulcers venous D014647||stasis ulcer venous D014647||ulcers stasis D014647||ulcer stasis D014647||ulcers varicose D014647||ulcers venous D014647||ulcers venous hypertension D014647||ulcers venous stasis D014647||ulcer varicose D014647||ulcer venous D014647||ulcer venous hypertension D014647||ulcer venous stasis D014647||varicose ulcers D014647||venous hypertension ulcer D014647||venous hypertension ulcers D014647||venous stasis ulcer D014647||venous stasis ulcers D014647||venous ulcer D014647||venous ulcers D014646||varicocele D014646||varicoceles D052880||pyomyositis D052880||myositis tropical D052880||tropical myositis D013319||strongyle infections equine D013319||equine strongyle infection D013319||equine strongyle infections D013319||equine strongyloses D013319||equine strongylosis D013319||infection equine strongyle D013319||infections equine strongyle D013319||strongyle infection equine D013319||strongyloses equine D013319||strongylosis equine C538617|188025||thrombocytopenia paris trousseau type C538617|188025||chromosome 11q23 deletion syndrome C538617|188025||tcpt C537625||gurrieri sammito bellussi syndrome C537625||gurrieri syndrome C537625||skeletal dysplasia epilepsy short stature D051556||hyperbilirubinemia neonatal D051556||direct hyperbilirubinemia neonatal D051556||during infancies hyperbilirubinemia D051556||hyperbilirubinemia during infancy D051556||hyperbilirubinemia neonatal direct D051556||hyperbilirubinemia neonatal indirect D051556||indirect hyperbilirubinemia neonatal D051556||infancy hyperbilirubinemia during D051556||neonatal direct hyperbilirubinemia D051556||neonatal hyperbilirubinemia D051556||neonatal indirect hyperbilirubinemia C537628||hair defect with photosensitivity and mental retardation C537628||calderon gonzalez cantu syndrome C537628||kinky hair photosensitivity broken eyebrows and eyelashes and nonprogressive mental retardation D039941||bifidobacteriales infections D039941||bifidobacteriales infection D039941||infection bifidobacteriales D039941||infections bifidobacteriales D013313||stress disorders post traumatic D013313||acute post traumatic stress disorder D013313||chronic post traumatic stress disorder D013313||delayed onset post traumatic stress disorder D013313||neuroses posttraumatic D013313||neuroses post traumatic D013313||posttraumatic neuroses D013313||post traumatic neuroses D013313||posttraumatic stress disorder D013313||post traumatic stress disorder D013313||posttraumatic stress disorders D013313||post traumatic stress disorders D013313||ptsd D013313||stress disorder posttraumatic D013313||stress disorder post traumatic D013313||stress disorders posttraumatic C537629||hair an syndrome C537629||hyperandrogenic insulin resistant acanthosis nigricans syndrome C537629||hyperandrogenism ha insulin resistance ir and acanthosis nigricans an C537626||hagemoser weinstein bresnick syndrome C537626||optic atrophy deafness and peripheral neuropathy C537626||optic atrophy hearing loss and peripheral neuropathy D000016||abnormalities radiation induced D000016||abnormality radiation induced D000016||radiation induced abnormalities D000016||radiation induced abnormality D049248||decapitation D049248||decapitations D000015||abnormalities multiple D000015||multiple abnormalities C536311||patterson stevenson syndrome C536311||patterson stevenson fontaine syndrome C536311||split foot deformity with ectrodactyly and mandibulofacial dysostosis C536311||split foot deformity with mandibulofacial dysostosis C536311||tpt and psd syndrome C536311||triphalangeal thumb polydactyly syndrome C536311||triphalangeal thumb polysyndactyly syndrome C536311||triphalangeal thumb with polysyndactyly C537642||chromosome 4 partial trisomy distal 4q C537642||chromosome 4 partial trisomy 4 q25 qter C537642||chromosome 4 partial trisomy 4 q26 or q27 qter C537642||chromosome 4 partial trisomy 4 q31 or 32 qter C536312||juvenile pauciarticular chronic arthritis C536312||pauciarticular chronic arthritis C537643||duplication 4p syndrome C537643||chromosome 4 partial trisomy 4p C537643||chromosome 4 trisomy 4p C537643||duplication 4p C537640||chromosome 4 monosomy 4q32 C537640||deletion 4q32 C537640||monosomy 4q32 C536310||patterson pseudoleprechaunism syndrome C536310||patterson apos s leprechaunoid syndrome C537641||chromosome 4 4q terminal deletion syndrome C537641||chromosome 4 deletion 4q31 qter syndrome C537641||chromosome 4 deletion 4q32 qter syndrome C537641||chromosome 4 deletion 4q33 qter syndrome C537641||chromosome 4 monosomy distal 4q C537641||chromosome 4 partial monosomy of distal 4q C563938||obesity hyperphagia and developmental delay D000014||abnormalities drug induced D000014||abnormality drug induced D000014||drug induced abnormalities D000014||drug induced abnormality C562606||nephrosialidosis C567383|612245||inflammatory bowel disease 14 C567383|612245||ibd14 C563937||arterial dissection with lentiginosis D000013||congenital abnormalities D000013||abnormalities congenital D000013||abnormality congenital D000013||birth defect D000013||birth defects D000013||congenital abnormality D000013||congenital defect D000013||congenital defects D000013||defect birth D000013||defect congenital D000013||defects birth D000013||defects congenital D000013||deformities D000013||deformity C567380|612259||inflammatory bowel disease 16 C567380|612259||ibd16 C563936||cleft palate cardiac defect genital anomalies and ectrodactyly C563936||acrocardiofacial syndrome C563935||hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities D001342||autonomic nervous system diseases D001342||ans autonomic nervous system diseases D001342||ans disease D001342||ans diseases D001342||autonomic central nervous system diseases D001342||autonomic disease D001342||autonomic diseases D001342||autonomic dysfunction segmental D001342||autonomic dysfunctions segmental D001342||autonomic nervous system disorders D001342||autonomic peripheral nervous system diseases D001342||central autonomic nervous system diseases D001342||disorders of the autonomic nervous system D001342||nervous system diseases autonomic D001342||nervous system diseases parasympathetic D001342||nervous system diseases sympathetic D001342||parasympathetic nervous system diseases D001342||peripheral autonomic nervous system diseases D001342||segmental autonomic dysfunction D001342||segmental autonomic dysfunctions D001342||sympathetic nervous system diseases D014657||vasculitis D014657||angiitides D014657||angiitis D014657||vasculitides C563939||hirschsprung disease cardiac defects and autonomic dysfunction C535754|608779||congenital disorder of glycosylation type 2e C535754|608779||cdg2e C535754|608779||cdgiie C535754|608779||cdg iie C535754|608779||congenital disorder of glycosylation type iie C564253|608358||myopathy myosin storage C564253|608358||myopathy hyaline body autosomal dominant C567782|105210||amyloidosis hereditary transthyretin related C567782|105210||amyloid cardiomyopathy transthyretin related included C567782|105210||amyloid polyneuropathy familial fap amyloidosis leptomeningeal transthyretin related included C567782|105210||hereditary amyloidosis transthyretin related C567782|105210||transthyretin amyloidosis C537635||partial trisomy 3q syndrome C537635||chromosome 3 distal 3q2 trisomy C537635||chromosome 3 trisomy 3q2 C537635||partial duplication 3q syndrome C536305||patau syndrome C536305||bartholin patau syndrome C536305||chromosome 13 duplication C536305||chromosome 13 trisomy syndrome C536305||complete trisomy 13 syndrome C536305||patau apos s syndrome C536305||trisomy 13 C536305||trisomy 13 syndrome C537636||ring chromosome 4 syndrome C537636||ring 4 chromosome C536302||pascual castroviejo syndrome C536302||hemangiomas and cutaneous and intracranial vascular deformations C536303||pashayan syndrome C536303||blepharonasofacial malformation syndrome C537634||chromosome 3 trisomy 3q13 2 q25 C537634||duplication 3q13 2 q25 C537634||trisomy 3q13 2 q25 C536308||patella hypoplasia mental retardation C536308||mental retardation with patellar hypoplasia and luxation C537639||chromosome 4q syndrome C537639||chromosome 4 long arm deletion C537639||chromosome 4 monosomy 4q C537639||deletion 4q C537639||monosomy 4q C536306||patel bixler syndrome C536306||alopecia dysplastic nails palmar and plantar hyperkeratosis C536306||palmoplantar hyperkeratosis and alopecia C537637||chromosome 4 short arm deletion C537637||chromosome 4p deletion C537637||deletion 4p C537637||monosomy 4p D014653||vascular headaches D014653||cephalgias vascular D014653||cephalgia vascular D014653||headaches vascular D014653||headache vascular D014653||vascular cephalgia D014653||vascular cephalgias D014653||vascular headache D013322||strongyloidiasis D013322||anguilluliases D013322||anguilluliasis D013322||strongyloidiases C536307||patella aplasia coxa vara tarsal synostosis C536307||congenital coxa vara patella aplasia and tarsal synostosis C536307||patella aplasia coxa vara and tarsal synostosis C537638||chromosome 4 monosomy 4p14 p16 C537638||deletion 4p14 p16 C537638||monosomy 4p14 p16 C567434|612018||cataract juvenile with microcornea and glucosuria C567434|612018||cjmg D014652||vascular diseases D014652||diseases vascular D014652||disease vascular D014652||vascular disease C563960|600318||diabetes mellitus insulin dependent 3 C563960|600318||iddm3 C563960|600318||insulin dependent diabetes mellitus 3 C537650||chromosome 5 trisomy 5q C537650||duplication 5q C537650||trisomy 5q 231950|C536836||glutathionuria 231950|C536836||gamma glutamyltransferase deficiency 231950|C536836||gamma glutamyltranspeptidase deficiency 231950|C536836||ggt deficiency 231950|C536836||gtg deficiency D002644||chickenpox D002644||chicken pox D002644||varicella C566178||breast cancer familial male C536323||pointer syndrome C536323||skeletal abnormalities camptodactyly facial anomalies and feeding difficulties C536320||sabinas brittle hair syndrome C536320||brittle hair and mental deficit C536320||sabinas syndrome D002647||chilblains D002647||chilblain D002647||idiopathic pernioses D002647||idiopathic perniosis D002647||pernioses D002647||pernioses idiopathic D002647||perniosis D002647||perniosis idiopathic C563901||brachial palsy familial congenital D002640||chiari frommel syndrome D002640||disease frommel D002640||disease frommel apos s D002640||frommel disease D002640||frommel apos s disease D002640||syndrome chiari frommel C536552|601606||trichoepithelioma multiple familial C536552|601606||brooke fordyce trichoepitheliomas C536552|601606||eac C536552|601606||epithelioma adenoides cysticum of brooke C536552|601606||epithelioma hereditary multiple benign cystic C536552|601606||hereditary multiple benign cystic epithelioma C536552|601606||mft1 C536552|601606||multiple familial trichoepithelioma C536552|601606||trichoepithelioma multiple familial 1 C563905||ulnar fibular ray defect and brachydactyly C563904||cerebrofrontofacial syndrome D003970||diastema D003970||diastemas D014625||vaginal neoplasms D014625||cancer of the vagina D014625||cancer of vagina D014625||cancers vagina D014625||cancers vaginal D014625||cancer vagina D014625||cancer vaginal D014625||neoplasms vagina D014625||neoplasms vaginal D014625||neoplasm vagina D014625||neoplasm vaginal D014625||vagina cancer D014625||vagina cancers D014625||vaginal cancer D014625||vaginal cancers D014625||vaginal neoplasm D014625||vagina neoplasm D014625||vagina neoplasms D055947|609192||loeys dietz syndrome D055947|609192||aat5 D055947|609192|C567156||aortic aneurysm familial thoracic 5 D055947|609192||lds1 D055947|609192||loeys dietz aortic aneurysm syndrome D055947|609192||loeys dietz syndrome 1 D055947|609192||loeys dietz syndrome type 1a D055947|609192||syndrome loeys dietz C564250|608372||deafness autosomal dominant 49 C564250|608372||dfna49 D014624||vaginal fistula D014624||fistulas vaginal D014624||fistula vaginal D014624||vaginal fistulas C566180||callosities hereditary painful C566180||callosities painful plantar D014623||vaginal diseases D014623||diseases vaginal D014623||disease vaginal D014623||vaginal disease C580477||surfactant dysfunction C580477||interstitial lung disease due to surfactant deficiency C580477||pulmonary surfactant metabolism dysfunction C580477||surfactant metabolism deficiency D014627||vaginitis D014627||vaginitides C536315||pediatric ulcerative colitis C536315||ulcerative colitis pediatric C537646||chromosome 4 trisomy 4q25 qter C537646||duplication 4q25 qter C537646||trisomy 4q25 qter C580473||succinate coa ligase deficiency C580473||mitochondrial dna depletion encephalomyopathic form with methylmalonic aciduria C580473||mitochondrial dna depletion syndrome encephalomyopathic form with mild methylmalonic aciduria C580473||succinate coenzyme a ligase deficiency C566185||heart block nonprogressive C537647||chromosome 5 monosomy 5q35 C537647||deletion 5q35 C537647||monosomy 5q35 C566186||cardiac conduction defect nonprogressive C536313||pavone fiumara rizzo syndrome C536313||syndactyly type 1 with cataracts and mental retardation C537644||chromosome 4 trisomy 4q C537644||duplication 4q C537644||trisomy 4q C580471||sebocystomatosis C566187||epidermolytic hyperkeratosis late onset C537645||chromosome 4 trisomy 4q21 C537645||duplication 4q21 C537645||trisomy 4q21 C580472||stickler syndrome C580472||hereditary arthro ophthalmo dystrophy C580472||hereditary arthro ophthalmopathy C580472||stickler dysplasia C566188||branchial myoclonus with spastic paraparesis and cerebellar ataxia C536319||pelizaeus merzbacher like disease autosomal recessive 2 C536319||leukodystrophy hypomyelinating 3 C536319||perinatal sudanophilic leukodystrophy 126700|C563034||basal laminar drusen 126700|C563034||drusen cuticular 126700|C563034||drusen early adult onset grouped 126700|C563034||drusen of bruch membrane C580470||stargardt macular degeneration C580470||stargardt disease C566182||calcific aortic disease with immunologic abnormalities familial C536317||peho syndrome C536317||infantile cerebellooptic atrophy C536317||peho like syndrome C536317||progressive encephalopathy with edema hypsarrhythmia and optic atrophy C537648||chromosome 5 trisomy 5p C537648||chromosome 5 trisomy 5p complete 5p11 pter C537648||chromosome 5 trisomy 5p partial 5p13 or 14 pter C536318||pelizaeus merzbacher like brain sclerosis C536318||cerebral sclerosis similar to pelizaeus merzbacher disease C537649||chromosome 5 trisomy 5pter p13 3 C537649||duplication 5pter p13 3 C537649||trisomy 5pter p13 3 C566184||prenatal cortical hyperostosis lethal D002659||child development disorders pervasive D002659||autism spectrum disorder D002659||autism spectrum disorders D002659||development disorder pervasive D002659||development disorders pervasive D002659||disorder autism spectrum D002659||disorder pervasive development D002659||disorders autism spectrum D002659||disorders pervasive development D002659||pervasive child development disorders D002659||pervasive development disorder D002659||pervasive development disorders D002659||spectrum disorder autism D002659||spectrum disorders autism C537660||basaran yilmaz syndrome C537660||keratoderma hypotrichosis and leukonychia totalis D029597|192500||romano ward syndrome D029597|192500||long qt syndrome 1 D029597|192500||long qt syndrome 1 acquired susceptibility to included D029597|192500||long qt syndrome type 1 D029597|192500||lqt1 D029597|192500||rws D029597|192500||syndrome romano ward D029597|192500||syndrome ward romano D029597|192500||ventricular fibrillation with prolonged qt interval D029597|192500||ventricular fibrillation with prolonged qt interval long qt syndrome 1 2 digenic included lqt1 2 digenic included D029597|192500||ward romano syndrome D029597|192500||wrs C565346|191100||tuberous sclerosis 1 C565346|191100||tsc C565346|191100||tsc1 C564589|607326||smith mccort dysplasia C564589|607326||smc C564589|607326||smc1 C564589|607326||smith mccort dysplasia 1 C537661||bassoe syndrome C537664||bazopoulou kyrkanidou syndrome C536334||polymorphic catecholergic ventricular tachycardia C536334||bidirectional tachycardia induced by catecholamines C536334||catecholamine induced polymorphic ventricular tachycardia C536334||catecholaminergic polymorphic ventricular tachycardia C536334||familial polymorphic ventricular tachycardia C536334||stress induced polymorphic ventricular tachycardia C536334||ventricular tachycardia catecholaminergic polymorphic 1 C537665||beardwell syndrome C537665||familial ankylosing vertebral hyperostosis with tylosis D001329||autolysis D001329||autolyses C536331||polydactyly myopia syndrome C536331||czeizel brooser syndrome C536331||polydactyly postaxial with progressive myopia C536331||postaxial polydactyly progressive myopia syndrome C536331||postaxial polydactyly with progressive myopia C537662||battaglia neri syndrome C536332||polydactyly preaxial type 1 C536332||fromont anomaly C536332||polydactyly preaxial i C536332||thumb polydactyly D002658||developmental disabilities D002658||child development deviation D002658||child development deviations D002658||child development disorder D002658||child development disorders D002658||child development disorders specific D002658||developmental delay disorder D002658||developmental delay disorders D002658||developmental disability D002658||development deviation child D002658||development deviations child D002658||development disorder child D002658||development disorders child D002658||deviation child development D002658||disabilities developmental D002658||disability developmental D002653||child behavior disorders D002653||behavior disorders child D002653||disorders child behavior C564543|614732||intrauterine growth retardation metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies C564543|614732||adrenal hypoplasia cytomegalic type C564543|614732||image syndrome 256840|C564948||neuropathy hereditary sensory with spastic paraplegia autosomal recessive 311000|C564087||ophthalmoplegia external and myopia 311000|C564087||myopia ophthalmoplegia syndrome 311000|C564087||opem C535962|131950||epidermolysis bullosa simplex ogna type C535962|131950||ebs og C535962|131950||epidermolysis bullosa simplex 1 C537126|610708||optic atrophy 5 C537126|610708||opa5 D012859|270150||sjogren apos s syndrome D012859|270150||sicca syndrome D012859|270150||sjogrens syndrome D012859|270150||sjogren syndrome D012859|270150||syndrome sicca D012859|270150||syndrome sjogren apos s C536326||polycystic kidney disease type 1 C537657||basal ganglia calcification idiopathic 2 C536200|225320||ehlers danlos syndrome cardiac valvular form C536200|225320||cardiac valvular form of autosomal recessive ehlers danlos syndrome C536200|225320||cardiac valvular form of ehlers danlos syndrome C536200|225320||ehlers danlos syndrome arthrochalasis type C536200|225320||ehlers danlos syndrome autosomal recessive cardiac valvular form C536324||polycystic bone disease C537655||basal cell carcinoma infundibulocystic C537655||basal cell carcinoma with follicular differentiation C537655||infundibulocystic basal cell carcinoma C537656||basal cell carcinoma multiple C537656||multiple basal cell carcinoma C566192||brachydactyly nystagmus cerebellar ataxia C566193||brachydactyly type e with atrial septal defect type ii C537659||basan syndrome C537659||ectodermal dysplasia absent dermatoglyphics C566194|113300||brachydactyly type e 194090|C565991||wilms tumor 3 194090|C565991||wt3 300752||protoporphyria erythropoietic x linked 300752|C567464||erythrohepatic protoporphyria x linked 300752|C567464||protoporphyria erythropoietic x linked dominant 300752||xldpp 300752||xlepp C566156||cataract nuclear total C567487||thrombocytopenia 3 C567487||thrombocytopenia autosomal recessive 3 613690||cardiomyopathy familial hypertrophic 7 613690||cmh7 C567307|612446||complement component 6 deficiency C567307|612446||c6d C567307|612446||c6 deficiency C567307|612446||complement c6 deficiency C567307|612446||c6 deficiency complement component 6 deficiency subtotal included C567307|612446||c6 deficiency subtotal included C536629|242900||schimke immunoosseous dysplasia C536629|242900||immunoosseous dysplasia schimke type C536629|242900||schimke immuno osseous dysplasia C536629|242900||siod D014604||uveal neoplasms D014604||neoplasms uveal D014604||neoplasm uveal D014604||uveal neoplasm D014603||uveal diseases D014603||diseases uveal D014603||disease uveal D014603||uveal disease C580457||spastic paraplegia type 7 C580457||hereditary spastic paraplegia paraplegin type C580457||spastic paraplegia 7 C580458||spastic paraplegia type 8 C580458||autosomal dominant spastic paraplegia 8 C580458||hereditary spastic paraplegia 8 C580458||spastic paraplegia 8 C580458||spg 8 C580455||spastic paraplegia type 3a C580455||spastic paraplegia 3 C580455||spastic paraplegia 3a D014608||uveoparotid fever D014608||fevers uveoparotid D014608||fever uveoparotid D014608||heerfordt syndrome D014608||syndrome heerfordt D014608||uveoparotid fevers D014608||uveoparotitides D014608||uveoparotitis C580456||spastic paraplegia type 4 C580456||spastic paraplegia 4 D014607||uveomeningoencephalitic syndrome D014607||disease vogt koyanagi harada D014607||syndrome uveomeningoencephalitic D014607||syndrome vkh D014607||syndrome vkh vogt koyanagi harada D014607||syndrome vogt koyanagi harada D014607||uveomeningoencephalitides D014607||uveomeningoencephalitis D014607||vkh syndrome D014607||vkh syndrome vogt koyanagi harada D014607||vkh vogt koyanagi harada syndrome D014607||vogt koyanagi harada disease D014607||vogt koyanagi harada syndrome C580453||spastic paraplegia type 11 C580453||autosomal recessive spastic paraplegia complicated with thin corpus callosum C580453||autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum C580453||spg11 related hereditary spastic paraplegia with thin corpus callosum D014606||uveitis anterior D014606||anterior uveitides D014606||anterior uveitis D014606||uveitides anterior 612362||body mass index quantitative trait locus 12 612362||bmiq12 D014605||uveitis D014605||uveitides C567494||hyperphenylalaninemia non pku mild C567491||renal tubular dysgenesis with choanal atresia and athelia C567490||diarrhea 3 secretory sodium congenital syndromic C566160||cataract floriform C567493||hyperphenylalaninemia bh4 deficient due to partial pts deficiency C566161||cataract crystalline coralliform C566162|115700||cataract crystalline aculeiform C566162||cataract aculeiform D002637||chest pain D002637||chest pains D002637||pain chest D002637||pains chest D003968||diarrhea infantile D003968||diarrheas infantile D003968||infantile diarrhea D003968||infantile diarrheas D001304||auditory diseases central D001304||auditory cortex disorder D001304||auditory cortex disorders D001304||auditory disease central D001304||auditory dysfunction central D001304||auditory pathway disorders central D001304||central auditory disease D001304||central auditory diseases D001304||central auditory dysfunction D001304||central auditory pathway disorders D001304||cortex disorder auditory D001304||cortex disorders auditory D001304||dysfunction central auditory D001304||dysfunctions central auditory D006457|300818||hemoglobinuria paroxysmal D006457|300818||cold paroxysmal hemoglobinuria D006457|300818||hemoglobinuria cold paroxysmal D006457|300818||hemoglobinuria nocturnal paroxysmal D006457|300818||hemoglobinuria paroxysmal cold D006457|300818||hemoglobinuria paroxysmal nocturnal D006457|300818||marchiafava micheli syndrome D006457|300818||nocturnal paroxysmal hemoglobinuria D006457|300818||paroxysmal cold hemoglobinuria D006457|300818||paroxysmal hemoglobinuria D006457|300818||paroxysmal hemoglobinuria cold D006457|300818||paroxysmal hemoglobinuria nocturnal D006457|300818||paroxysmal nocturnal hemoglobinuria D006457|300818||paroxysmal nocturnal hemoglobinuria 1 D006457|300818||pnh1 D006457|300818||syndrome marchiafava micheli D003969||vipoma D003969||cholera pancreatic D003969||diarrheogenic islet cell tumor D003969||diarrheogenic tumor D003969||diarrheogenic tumors D003969||pancreatic cholera D003969||pancreatic vipoma D003969||pancreatic vipomas D003969||syndrome verner morrison D003969||syndrome vipoma D003969||tumor diarrheogenic D003969||tumors diarrheogenic D003969||tumors vip secreting vipoma D003969||tumor vip secreting vipoma D003969||vasoactive intestinal peptide producing tumor D003969||vasoactive intestinal peptide vip tumor D003969||verner morrison syndrome D003969||vipoma pancreatic D003969||vipomas D003969||vipomas pancreatic D003969||vipoma syndrome D003969||vip secreting tumors vipoma D003969||vip secreting tumor vipoma D003969||watery diarrhea hypokalemia and achlorhydria syndrome D003969||watery diarrhea syndrome D003969||watery diarrhea with hypokalemic alkalosis D003969||wdha D003969||wdha syndrome D003969||wdha syndromes D003969||wdhh C537913|609441||chondrodysplasia acromesomelic with genital anomalies D002639||cheyne stokes respiration D002639||respiration cheyne stokes D001308||auditory perceptual disorders D001308||acoustic perceptual disorder D001308||acoustic perceptual disorders D001308||auditory comprehension disorder D001308||auditory comprehension disorders D001308||auditory inattention D001308||auditory inattentions D001308||auditory perceptual disorder D001308||auditory processing disorder D001308||auditory processing disorders D001308||comprehension disorder auditory D001308||comprehension disorders auditory D001308||disorder acoustic perceptual D001308||disorder auditory comprehension D001308||disorder auditory processing D001308||disorder psychoacoustical D001308||disorders acoustic perceptual D001308||disorders auditory comprehension D001308||disorders auditory processing D001308||disorders psychoacoustical D001308||inattention auditory D001308||inattentions auditory D001308||perceptual disorder acoustic D001308||perceptual disorder auditory D001308||perceptual disorders acoustic D001308||perceptual disorders auditory D001308||processing disorder auditory D001308||processing disorders auditory D001308||psychoacoustical disorder D001308||psychoacoustical disorders D003965||diaphragmatic eventration D003965||diaphragm eventration D003965||eventration diaphragmatic D003965||eventration of diaphragm 613680||beaulieu boycott innes syndrome 613680||bbis 613680||microcephaly mental retardation and distinctive facies with cardiac and genitourinary malformations D049288||muscular dystrophies limb girdle D049288||limb girdle muscular dystrophies D049288||limb girdle muscular dystrophy D049288||limb girdle syndrome D049288||muscular dystrophy limb girdle D049288||myopathic limb girdle syndrome D003967||diarrhea D003967||diarrheas D003963||diaper rash D003963||diaper rashes D003963||rash diaper D003963||rashes diaper 613685||deafness autosomal recessive 83 613685||dfnb83 613686||spondylocostal dysostosis 4 autosomal recessive 613686||scdo4 C563723|609408||holoprosencephaly 8 C563723|609408||hpe8 612348||thrombophilia familial due to decreased release of tissue plasminogen activator thph9 hyperfibrinolysis familial due to increased release of tissue plasminogen 612348||activator included 613689||mammary digital nail syndrome 613689||mdns 613679||prothrombin deficiency congenital 613679||hypoprothrombinemia dysprothrombinemia included D014615||vaccinia D014615||vaccinias C563575|157640||progressive external ophthalmoplegia with mitochondrial dna deletions autosomal dominant 1 C563575|157640||peoa1 C563575|157640||progressive external ophthalmoplegia autosomal dominant 1 611022|C567027||deafness autosomal recessive 24 611022|C567027||dfnb24 612353||porokeratosis 6 disseminated superficial actinic type 612353||dsap4 612353||porok6 167750|C536376||annular pancreas 167750|C536376||pancreas annular C566175||carabelli anomaly of maxillary molar teeth C566176||car factor deficiency C563700|609549||nanophthalmos 2 C563700|609549||nanophthalmia 2 C563700|609549||nanophthalmos autosomal recessive C563700|609549||nno2 D049292||leukoaraiosis D049292||leukoaraioses D049291||seroma D049291||seromas C566172||familial sudden death C566173||monocyte esterase deficiency C566173||monocyte carboxylesterase deficiency D018198||mixed tumor malignant D018198||malignant mixed tumor D018198||malignant mixed tumors D018198||mixed tumors malignant D018198||tumor malignant mixed D018198||tumors malignant mixed D018197||hepatoblastoma D018197||hepatoblastomas D018199||mixed tumor mesodermal D018199||mesodermal mixed tumor D018199||mesodermal mixed tumors D018199||mixed tumors mesodermal D018199||tumor mesodermal mixed D018199||tumors mesodermal mixed D010033|166760||otitis media D010033|166760||come rom D010033|166760||inflammation middle ear D010033|166760||middle ear inflammation D010033|166760||oms D010033|166760||otitis media chronic recurrent D010033|166760||otitis media susceptibility to 216950||complement component c1r c1s deficiency 216950||c1r c1s deficiency D018194||adenomyoma D018194||adenomyomas D018193||neoplasms complex and mixed D018193||complex and mixed neoplasms D002601||chancre D002601||chancres C537610||rhizomelic dysplasia scoliosis and retinitis pigmentosa D018196||carcinoma adenosquamous D018196||adenosquamous carcinoma D018196||adenosquamous carcinomas D018196||carcinomas adenosquamous D002602||chancroid D002602||chancroids D018195||adenosarcoma D018195||adenosarcomas 613670||mental retardation with language impairment and autistic features C566137||charcot marie tooth disease guadalajara neuronal type D018190||lymphatic vessel tumors D018190||lymphatic vessel tumor D018190||tumor lymphatic vessel D018190||tumors lymphatic vessel 613671||mental retardation anterior maxillary protrusion and strabismus 613671||mrams 613672||spastic ataxia 4 autosomal recessive 613672||spax4 D018191||lymphangioma cystic D018191||colli cystic hygroma D018191||cystic hygroma D018191||cystic hygroma colli D018191||cystic hygromas D018191||cystic lymphangioma D018191||cystic lymphangiomas D018191||hygroma D018191||hygroma colli cystic D018191||hygroma cystic D018191||hygromas D018191||hygromas cystic D018191||lymphangiomas cystic D003930||diabetic retinopathy D003930||diabetic retinopathies D003930||retinopathies diabetic D003930||retinopathy diabetic 613674||vesicoureteral reflux 3 613674||vur3 613676||seckel syndrome 4 613676||sckl4 C580439||short qt syndrome 613668||microcephaly postnatal progressive with seizures and brain atrophy C537609||rhizomelic dysplasia patterson lowry type C537609||patterson lowry rhizomelic dysplasia C537609||patterson lowry syndrome C537602||short rib polydactyly syndrome verma naumoff type C537602||polydactyly with neonatal chondrodystrophy type 3 C580430||salih myopathy C580430||early onset myopathy with fatal cardiomyopathy C580430||salih cmd C580430||salih congenital muscular dystrophy C537603||short stature and locking fingers C566142||cervical hypertrichosis with underlying kyphoscoliosis C566142||hypertrichosis posterior cervical with underlying kyphoscoliosis C563649|148300||keratoconus 1 C563649|148300||ktcn1 C567474||mental retardation x linked syndromic 9 601696||novelty seeking personality trait 601696||risk taking behavior included C537605||rhabdomyosarcoma of the orbit C566140||cervical vertebral dysplasia C535608|612952||aicardi goutieres syndrome 5 C535608|612952||ags5 C535608|612952||aicardi goutieres syndrome autosomal dominant C537620||growth mental deficiency syndrome of myhre C537620||laps syndrome C537620||laryngotracheal stenosis arthropathy prognathism and short stature C537620||myhre syndrome C537621||grubben de cock borghgraef syndrome D003333|122460||coronaviridae infections D003333|122460||coronaviridae infection D003333|122460||coronavirus 229e susceptibility D003333|122460||cvs D003333|122460||hcvs D003333|122460||human coronavirus sensitivity D003333|122460||infection coronaviridae D003333|122460||infections coronaviridae D002613||cheilitis D002613||cheilitides C566147||minicore myopathy moderate with hand involvement C566147||multicore myopathy moderate with hand involvement C566147||multiminicore disease moderate with hand involvement 613660||cone rod dystrophy 15 613660||cord15 613660||retinitis pigmentosa 65 included 613660||rp65 included 613661||congenital disorder of glycosylation type ip 613661||cdg1p D008557|155950||melorheostosis D008557|155950||mel D008557|155950||melorheostoses D008557|155950||melorheostosis isolated D008557|155950||melorheostosis of leri 613662||mitochondrial dna depletion syndrome 4b mngie type 613662||mitochondrial neurogastrointestinal encephalopathy syndrome polg related 613662||mngie polg related 613662||mtdps4b C565367|252605||mucolipidosis iii gamma C565367|252605||ml iiic C565367|252605||ml iii gamma C565367|252605||mucolipidosis iiic C565367|252605||mucolipidosis iii complementation group c C565367|252605||mucolipidosis iii iranian variant form C565367|252605||mucolipidosis iii variant form D018234|606243||sarcoma alveolar soft part D018234|606243||alveolar soft part sarcoma D018234|606243||asps 611523|C548074||pontocerebellar hypoplasia type 6 611523|C548074||encephalopathy fatal infantile with mitochondrial respiratory chain defects 611523|C548074||pch6 612336||thrombophilia due to protein s deficiency autosomal dominant 612336||thph5 C565291|605805||dermatitis atopic 4 C565291|605805||atod4 613658||rajab syndrome 613658||developmental delay small stature microcephaly and brain calcifications C537619||krieble bixler syndrome C537619||autosomal dominant blepharophimosis with multiple congenital anomalies C536045|166220||osteogenesis imperfecta type 4 C536045|166220||oi4 C536045|166220||oi type iv C536045|166220||osteogenesis imperfecta type iv C536045|166220||osteogenesis imperfecta with normal sclerae 607454|C537200||spinocerebellar ataxia 21 607454|C537200||sca21 C537955|115660||cerulean cataract C537955|115660||cataract 7 C537955|115660||cataract 7 cerulean type C537955|115660||cataract congenital blue dot type 1 C537955|115660||cataract congenital cerulean type 1 C537955|115660||cca1 C537955|115660||ctrct7 D013285|185100||strabismus D013285|185100||comitant strabismus D013285|185100||comitant strabismus convergent D013285|185100||convergent comitant strabismus D013285|185100||hypertropia D013285|185100||hypertropias D013285|185100||mechanical strabismus D013285|185100||noncomitant strabismus D013285|185100||phoria D013285|185100||phorias D013285|185100||squint D013285|185100||stbms1 included D013285|185100||strabismus comitant D013285|185100||strabismus convergent comitant D013285|185100||strabismus mechanical D013285|185100||strabismus noncomitant D013285|185100||strabismus susceptibility to D013285|185100||strabismus susceptibility to 1 included 601682||glaucoma 1 primary open angle c 601682||glc1c C537613||ribbing disease C537613||diaphyseal sclerosis multiple C537613||hereditary multiple diaphyseal sclerosis C537613||multiple diaphyseal sclerosis C566152||cavernous malformations of cns and retina C537614||kozlowski warren fisher syndrome C537614||cloverleaf skull generalised bone dysplasia C566153||hyperkeratotic cutaneous capillary venous malformations associated with cerebral capillary malformations C563306|601494||cardiomyopathy dilated 1d C563306|601494||cmd1d C563306|601494||left ventricular noncompaction 6 included C563306|601494||lvnc6 included C537611||rhizomelic syndrome C537611||familial rhizomelic dysplasia C537611||rhizomelic dysplasia familial C567486||hypercarotenemia and vitamin a deficiency autosomal recessive C537612||rhyns syndrome C537612||retinitis pigmentosa hypopituitarism nephronophthisis and mild skeletal dysplasia C537612||retinitis pigmentosa syndrome C537705|147920||kabuki syndrome C537705|147920||kabuk1 C537705|147920||kabuki make up syndrome C537705|147920||kabuki makeup syndrome C537705|147920||kabuki syndrome 1 C537705|147920||niikawa kuroki syndrome C537618||krauss herman holmes syndrome C537618||telecanthus hypertelorism strabismus and pes cavus syndrome C537615||kozlowski krajewska syndrome C537616||krasnow qazi syndrome C537616||krasnow qazi yermakov syndrome C566151||celiac artery stenosis from compression by median arcuate ligament of diaphragm D018176||torovirus infections D018176||infections torovirus D018176||infection torovirus D018176||torovirus infection D018175||birnaviridae infections D018175||birnaviridae infection D018175||infection birnaviridae D018175||infections birnaviridae D003914||dextrocardia D003914||dextrocardias C566117||cluster headache familial D018178||flaviviridae infections D018178||flaviviridae infection D018178||infection flaviviridae D018178||infections flaviviridae D018177||flavivirus infections D018177||flavivirus infection D018177||infection flavivirus D018177||infections flavivirus C566119||cleidocranial dysplasia forme fruste with brachydactyly C567444||congenital heart defects x linked C567443||ichthyosis x linked complicated C566113||progressive encephalomyelitis with rigidity D018174||arterivirus infections D018174||arterivirus infection D018174||infection arterivirus D018174||infections arterivirus C567446||stevenson carey syndrome 313900|C564052||thrombocytopenia 1 313900|C564052||thc 313900|C564052||thc1 313900|C564052||thrombocytopenia x linked 313900|C564052||thrombocytopenia x linked 1 313900|C564052||thrombocytopenia x linked 1 thrombocytopenia x linked intermittent included 313900|C564052||x linked thrombocytopenia 313900|C564052||xlt D018173||circoviridae infections D018173||circoviridae infection D018173||circovirus infection D018173||circovirus infections D018173||infection circoviridae D018173||infection circovirus D018173||infections circoviridae D018173||infections circovirus C567445||hunter macdonald syndrome C563686|609919||gallbladder disease 3 C563686|609919||gbd3 400044||46 xy sex reversal 1 400044||46 xy gonadal dysgenesis complete sry related 46 xy true hermaphroditism sry related included 400044||46 xy sex reversal sry related 400044||sex reversing locus on x formerly included srvx formerly included 400044||srxy1 400044||testis determining factor x chromosomal formerly included tdfx formerly included 400045||46 xx sex reversal 1 400045||46 xx sex reversal sry positive 400045||46 xx testicular disorder of sex development 46 xx true hermaphroditism sry positive included 400045||ovotesticular disorder of sex development included 400045||ovotesticular dsd included 400045||srxx1 400045||xx male sry positive 612319||spastic paraplegia 35 autosomal recessive 612319||fahn 612319|C580102||fatty acid hydroxylase associated neurodegeneration 612319||spg35 400043||deafness y linked 1 400043||dfny1 613646||methylmalonic aciduria due to transcobalamin receptor defect 613646||methylmalonic acidemia tcblr type 613647||spastic paraplegia 48 autosomal recessive 613647||spg48 C566825|168550||parietal foramina with cleidocranial dysplasia C566825|168550||cleidocranial dysplasia with parietal foramina C566825|168550||pfmccd D006192||haemophilus infections D006192||haemophilus infection D006192||hemophilus infection D006192||hemophilus infections D006192||infection haemophilus D006192||infection hemophilus D006192||infections haemophilus D006192||infections hemophilus C564296|608088||neuropathy hereditary sensory and autonomic type i with cough and gastroesophageal reflux C564296|608088||hsan1b C564296|608088||hsn1b C564296|608088||neuropathy hereditary sensory and autonomic type ib C564296|608088||neuropathy hereditary sensory type ib 601675||trichothiodystrophy photosensitive ttdp ichthyosiform erythroderma with hair abnormality and mental and growth 601675||ibids syndrome included 601675||ichthyosis congenital with trichothiodystrophy included 601675||retardation included 601675||tay syndrome included 601675||trichothiodystrophy with congenital ichthyosis included C536170|222600||diastrophic dysplasia C536170|222600||dd diastrophic dysplasia broad bone platyspondylic variant included C536170|222600||diastrophic dwarfism C536170|222600||dtd 194200|D014927||wolff parkinson white syndrome 194200|D014927||accessory atrioventricular pathways included 194200|D014927||anomalous ventricular excitation syndrome 194200|D014927||auriculoventricular accessory pathway syndrome 194200|D014927||false bundle branch block syndrome 194200|D014927||syndrome wolff parkinson white 194200|D014927||syndrome wolf parkinson white 194200|D014927||syndrome wpw 194200|D014927||ventricular pre excitation with arrhythmia 194200|D014927||wolf parkinson white syndrome 194200|D014927||wpw syndrome 194200|D014927||wpw syndrome preexcitation syndrome included D003919||diabetes insipidus C566127||choreoathetosis familial inverted C566127||infantile choreoathetosis of fisher C563816|608996||premature ovarian failure 3 C563816|608996||pof3 D018186||pneumovirus infections D018186||infection pneumovirus D018186||infections pneumovirus D018186||pneumovirus infection D003925||diabetic angiopathies D003925||angiopathies diabetic D003925||angiopathy diabetic D003925||diabetic angiopathy D003925||diabetic microangiopathies D003925||diabetic microangiopathy D003925||diabetic vascular complication D003925||diabetic vascular complications D003925||diabetic vascular disease D003925||diabetic vascular diseases D003925||microangiopathies diabetic D003925||microangiopathy diabetic D003925||vascular complication diabetic D003925||vascular complications diabetic D003925||vascular disease diabetic D003925||vascular diseases diabetic D003926||diabetic coma D003926||coma diabetic D003926||comas diabetic D003926||diabetic comas C566478|610441||testicular microlithiasis D018188||cardiovirus infections D018188||cardiovirus infection D018188||infection cardiovirus D018188||infections cardiovirus C536867|603563||spastic paraplegia 8 autosomal dominant C536867|603563||spg8 D003920||diabetes mellitus C567455||camptodactyly syndrome guadalajara type iii 180500||rgs 180500||rieg 180500||rieg1 D018182||pestivirus infections D018182||infection pestivirus D018182||infections pestivirus D018182||pestivirus infection D003921||diabetes mellitus experimental D003921||alloxan diabetes D003921||diabetes alloxan D003921||diabetes streptozocin D003921||diabetes streptozotocin D003921||diabete streptozocin D003921||experimental diabetes mellitus D003921||streptozocin diabete D003921||streptozocin diabetes D003921||streptozotocin diabetes C566124||choroidal osteoma bilateral D018185||morbillivirus infections D018185||infection morbillivirus D018185||infections morbillivirus D018185||morbillivirus infection C567457||immunodeficiency gonadal dysgenesis and pulmonary fibrosis C566125||chromate resistance D018184||paramyxoviridae infections D018184||infection parainfluenza virus D018184||infection paramyxoviridae D018184||infections parainfluenza virus D018184||infections paramyxoviridae D018184||parainfluenza D018184||parainfluenza virus infection D018184||parainfluenza virus infections D018184||paramyxoviridae infection D018184||virus infection parainfluenza D018184||virus infections parainfluenza D007863|136120||lecithin acyltransferase deficiency D007863|136120||acyltransferase deficiencies alpha lecithin cholesterol D007863|136120||acyltransferase deficiency alpha lecithin cholesterol D007863|136120||acyltransferase deficiency lecithin cholesterol D007863|136120||alpha lcat deficiency D007863|136120||alpha lecithin cholesterol acyltransferase deficiencies D007863|136120||alpha lecithin cholesterol acyltransferase deficiency D007863|136120||corneal dystrophy dyslipoproteinemic D007863|136120||deficiencies alpha lcat D007863|136120||deficiencies alpha lecithin cholesterol acyltransferase D007863|136120||deficiencies lcata D007863|136120||deficiency alpha lcat D007863|136120||deficiency alpha lecithin cholesterol acyltransferase D007863|136120||deficiency lcat D007863|136120||deficiency lecithin acyltransferase D007863|136120||deficiency lecithin cholesterol acyltransferase D007863|136120||disease fish eye D007863|136120||dyslipoproteinemic corneal dystrophy D007863|136120||fed D007863|136120||fish eye disease D007863|136120||lcata deficiencies D007863|136120||lcata deficiency D007863|136120||lcat deficiency D007863|136120||lecithin cholesterol acyltransferase deficiency D007863|136120||norum disease D003923||diabetes mellitus lipoatrophic D003923||diabete lipoatrophic D003923||diabetes lipoatrophic D003923||lipoatrophic diabete D003923|151660|D052496||lipoatrophic diabetes D003923||lipoatrophic diabetes mellitus C566126||chylomicronemia familial due to circulating inhibitor of lipoprotein lipase C566126||hyperlipoproteinemia type ic C567635|613345||hypokalemic periodic paralysis type 2 C567635|613345||hokpp2 D045724||diverticulosis stomach D045724||diverticulosis gastric D045724||gastric diverticulosis D045724||stomach diverticulosis 613640||neuropathy hereditary sensory and autonomic type ic 613640||hsan1c 613640||hsan ic 613640||hsn1c 613640||hsn ic 613640||neuropathy hereditary sensory type ic C563662|610799||invasive pneumococcal disease recurrent isolated 1 C563662|610799||invasive pneumococcal disease protection against included C563662|610799||ipd1 613641||charcot marie tooth disease recessive intermediate b 613641||charcot marie tooth neuropathy recessive intermediate b 613641||cmtrib 613641||ri cmtb D045723||diverticulosis esophageal D045723||esophageal diverticulosis 612306||thyroid stimulating hormone level quantitative trait locus 1 612306||thyrotropin quantitative trait locus 1 612306||tshqtl1 613643||parkinson disease 5 autosomal dominant 613643||park5 C567555|612840||leukocyte adhesion deficiency type iii C567555|612840||iadd C567555|612840||integrin activation deficiency disease C567555|612840||lad1v C567555|612840||lad3 C567555|612840||leukocyte adhesion deficiency 1 variant C567555|612840||leukocyte adhesion deficiency 3 612304||thrombophilia due to protein c deficiency autosomal recessive 612304||thph4 C580424||ring chromosome 20 syndrome C580424||r 20 syndrome C580424||ring 20 syndrome C580424||ring chromosome 20 C580424||ring chromosome 20 epilepsy syndrome C580420||ren related kidney disease C580420||familial juvenile hyperuricemic nephropathy 2 D045729||pneumonia of swine mycoplasmal D045729||enzootic pneumonia of pigs D045729||enzootic pneumonia of swine D045729||mycoplasmal pneumonia of swine D045729||mycoplasma pneumonia of pigs D045729||mycoplasma pneumonia of swine D045729||pneumonia of swine enzootic D045729||swine enzootic pneumonia D045729||swine mycoplasmal pneumonia D045729||swine mycoplasma pneumonia C535764|227200||eunuchoidism familial hypogonadotropic C535764|227200||figd C535764|227200||gonadotropin deficiency familial idiopathic C566130||adrenal insufficiency congenital C566131||adrenal insufficiency congenital with 46 xy sex reversal C567464||xldpt C566132||chlorpropamide alcohol flushing C566132||endemic tyrolean infantile cirrhosis C566133||chiari malformation type i with syringomyelia C566133||cm1 with syringomyelia D055847|609310||lynch syndrome ii D055847|609310||coca2 D055847|609310||colon cancer familial nonpolyposis type 2 D055847|609310||colorectal cancer hereditary nonpolyposis type 2 D055847|609310||fcc2 D055847|609310||hnpcc2 D055847|609310||lynch cancer family syndrome 2 D055847|609310||lynch cancer family syndrome ii D003928||diabetic nephropathies D003928||diabetic glomerulosclerosis D003928||diabetic kidney disease D003928||diabetic kidney diseases D003928||diabetic nephropathy D003928||glomerulosclerosis diabetic D003928||glomerulosclerosis nodular D003928||intracapillary glomerulosclerosis D003928||kidney disease diabetic D003928||kidney diseases diabetic D003928||kimmelstiel wilson disease D003928||kimmelstiel wilson syndrome D003928||nephropathies diabetic D003928||nephropathy diabetic D003928||nodular glomerulosclerosis D003928||syndrome kimmelstiel wilson C536860|607584||spastic paraplegia 24 C536860|607584||spg24 D003929||diabetic neuropathies D003929||amyotrophies diabetic D003929||amyotrophy diabetic D003929||asymmetric diabetic proximal motor neuropathy D003929||asymmetric polyneuropathies diabetic D003929||asymmetric polyneuropathy diabetic D003929||autonomic neuropathies diabetic D003929||autonomic neuropathy diabetic D003929||diabetic amyotrophies D003929||diabetic amyotrophy D003929||diabetic asymmetric polyneuropathies D003929||diabetic asymmetric polyneuropathy D003929||diabetic autonomic neuropathies D003929||diabetic autonomic neuropathy D003929||diabetic mononeuropathies D003929||diabetic mononeuropathy D003929||diabetic mononeuropathy simplex D003929||diabetic mononeuropathy simplices D003929||diabetic neuralgia D003929||diabetic neuralgias D003929||diabetic neuropathies painful D003929||diabetic neuropathy D003929||diabetic neuropathy painful D003929||diabetic polyneuropathies D003929||diabetic polyneuropathy D003929||mononeuropathies diabetic D003929||mononeuropathy diabetic D003929||mononeuropathy simplex diabetic D003929||mononeuropathy simplices diabetic D003929||neuralgia diabetic D003929||neuralgias diabetic D003929||neuropathies diabetic D003929||neuropathies diabetic autonomic D003929||neuropathies painful diabetic D003929||neuropathy diabetic D003929||neuropathy diabetic autonomic D003929||neuropathy painful diabetic D003929||painful diabetic neuropathies D003929||painful diabetic neuropathy D003929||polyneuropathies diabetic D003929||polyneuropathies diabetic asymmetric D003929||polyneuropathy diabetic D003929||polyneuropathy diabetic asymmetric D003929||simplex diabetic mononeuropathy D003929||simplices diabetic mononeuropathy D003929||symmetric diabetic proximal motor neuropathy 181800||scoliosis idiopathic susceptibility to 1 181800||adolescent idiopathic scoliosis 181800||is1 613630||cocoon syndrome 613630||fetal encasement syndrome 227645||fanconi anemia complementation group c 227645||fa3 227645||fac 227645||facc 227645||fancc 227645||fanconi pancytopenia type 3 C567411|612132||ectodermal dysplasia anhidrotic with t cell immunodeficiency autosomal dominant 227646||fanconi anemia complementation group d2 227646||fa4 227646||facd 227646||fad2 227646||fancd 227646||fancd2 227646||fanconi anemia complementation group d 227646||fanconi pancytopenia type 4 D007499||iris diseases D007499||disease iris D007499||diseases iris D007499||iris disease D006177||gynecomastia D006177||adolescent gynecomastia D006177||breast enlargement male D006177||enlargement male breast D006177||gynecomastia adolescent D006177||gynecomastia infant D006177||gynecomastia newborn D006177||infant gynecomastia D006177||male breast enlargement D006177||newborn gynecomastia 613625||factor v and factor viii combined deficiency of 2 613625||f5f8d2 D006175||gynatresia D006175||asherman apos s syndrome D006175||ashermans syndrome D006175||asherman syndrome D006175||gynatresias D006175||intrauterine synechiae D006175||syndrome asherman D006175||syndrome asherman apos s D006175||synechiae intrauterine D006175||synechiae uterine D006175||uterine synechiae C537777|262850||anti plasmin deficiency congenital C537777|262850||alpha 2 plasmin inhibitor deficiency C537777|262850||antiplasmin deficiency C537777|262850||antiplasmin deficiency congenital C537777|262850||plasmin inhibitor deficiency C536575|301900||borjeson forssman lehmann syndrome C536575|301900||bfls C536575|301900||borj C536575|301900||borjeson syndrome C536575|301900||mental deficiency epilepsy and endocrine disorders C536575|301900||mental retardation epilepsy and endocrine disorders C536575|301900||mental retardation x linked syndromic borjeson forssman lehmann type C536575|301900||mrxsbfl C567770|613075||macrocephaly alopecia cutis laxa and scoliosis C567770|613075||macs syndrome C567770|613075||tall forehead sparse hair skin hyperextensibility and scoliosis C566100||symphalangism c s lewis type C566100||thumbs stiff D018149||glucose intolerance D018149||glucose intolerances D018149||intolerance glucose D018149||intolerances glucose D055577|228000||farber lipogranulomatosis D055577|228000||ac deficiency D055577|228000||acid ceramidase deficiencies D055577|228000||acid ceramidase deficiency D055577|228000||ceramidase deficiencies D055577|228000||ceramidase deficiency D055577|228000||ceramidase deficiency acid D055577|228000||deficiencies ceramidase D055577|228000||deficiencies n laurylsphingosine deacylase D055577|228000||deficiency acid ceramidase D055577|228000||deficiency ceramidase D055577|228000||deficiency n laurylsphingosine deacylase D055577|228000||disease farber apos s D055577|228000||diseases farber apos s D055577|228000||farber disease D055577|228000||farber apos s disease D055577|228000||farbers disease D055577|228000||farber apos s diseases D055577|228000||lipogranulomatosis farber D055577|228000||n laurylsphingosine deacylase deficiencies D055577|228000||n laurylsphingosine deacylase deficiency C566105||stratton parker syndrome C566105||growth hormone deficiency with wormian bones cardiac anomaly and brachycamptodactyly C567439||chromosome 15q13 3 microdeletion syndrome C567439||15q13 3 microdeletion C567439||15q13 3 microdeletion syndrome C567439||chromosome 15q13 3 deletion syndrome C567439||microdeletion 15q13 3 syndrome C566108||stormorken syndrome C566108||thrombocytopathy asplenia and miosis C566101||symphalangism of toes C565691|610655||telangiectasia hereditary hemorrhagic type 4 C565691|610655||hht4 C566102||sulfhemoglobinemia congenital 600309||atrioventricular septal defect 3 600309||avsd3 C566104||striae distensae familial 125700|D020790||diabetes insipidus neurogenic 125700|D020790||cdi 125700|D020790||central diabetes insipidus 125700|D020790||diabetes insipidus central 125700|D020790||diabetes insipidus cranial type 125700|D020790||diabetes insipidus neurohypophyseal 125700|D020790||diabetes insipidus neurohypophyseal type 125700|D020790||diabetes insipidus pituitary 125700|D020790||diabetes insipidus primary central 125700|D020790||diabetes insipidus secondary to vasopressin deficiency 125700|D020790||neurogenic diabetes insipidus 125700|D020790||neurohypophyseal diabetes insipidus 125700|D020790||pituitary diabetes insipidus 125700|D020790||vasopressin defective diabetes insipidus 125700|D020790||vasopressin deficiency C566109||storm syndrome D045745||scleroderma limited D045745||limited scleroderma D045745||limited systemic scleroderma D045745||limited systemic sclerodermas D045745||scleroderma limited systemic D045745||sclerodermas limited systemic D045745||systemic scleroderma limited D045745||systemic sclerodermas limited D045743||scleroderma diffuse D045743||diffuse cutaneous systemic sclerosis D045743||diffuse scleroderma D045743||diffuse systemic scleroses D045743||diffuse systemic sclerosis D045743||progressive scleroderma D045743||progressive systemic sclerosis D045743||scleroderma progressive D045743||sclerodermas sudden onset D045743||scleroderma sudden onset D045743||scleroses diffuse systemic D045743||sclerosis diffuse systemic D045743||sclerosis progressive systemic D045743||sudden onset scleroderma D045743||sudden onset sclerodermas D045743||systemic scleroses diffuse D045743||systemic sclerosis diffuse D045743||systemic sclerosis progressive C535860|602089||hemangioma capillary infantile C535860|602089||hci C535860|602089||hemangioma hereditary capillary D006188||haemonchiasis D006188||haemonchiases D003555|220100||cystinuria D003555|220100||csnu D003555|220100||csnu1 formerly D003555|220100||csnu3 formerly D003555|220100||cystinurias D003555|220100||cystinuria type a b included D003555|220100||cystinuria type b included D003555|220100||cystinuria type i formerly D003555|220100||cystinuria type ii formerly D003555|220100||cystinuria type iii formerly D003555|220100||cystinuria type non i formerly cystinuria type a included 613616||hyperoxaluria primary type iii 613616||hp3 613617||retinitis pigmentosa 58 613617||rp58 184095|C563218||spondyloepiphyseal dysplasia maroteaux type 184095||pseudo morquio syndrome type 2 184095||sed maroteaux type C567442||rett syndrome zappella variant C566110||stomatocytosis ii C566111||stomatocytosis i C566111||overhydrated hereditary stomatocytosis C566111||potassium sodium disorder of erythrocyte D018159||endolymphatic hydrops D018159||hydrops endolymphatic D019584||hot flashes D019584||flashes hot D018253||adenoma villous D018253||adenomas villous D018253||villous adenoma D018253||villous adenomas D018252||syringoma D018252||syringomas 146800|D053560||ichthyosis bullosa of siemens 146800|D053560||bullous type ichthyoses 146800|D053560||bullous type ichthyosis 146800|D053560||bullous type of ichthyosis 146800|D053560||ibs ichthyosis exfoliativa included 146800|D053560||ichthyoses bullous type 146800|D053560||ichthyosis bullous type 146800|D053560||ichthyosis bullous type of siemens 146800|D053560||siemens ichthyosis bullosa D019586||intracranial hypertension D019586||elevated icp intracranial pressure D019586||elevated intracranial pressure D019586||hypertension intracranial D019586||icp elevated intracranial pressure D019586||icp intracranial pressure elevation D019586||icp intracranial pressure increase D019586||intracranial pressure elevated D019586||intracranial pressure increase D019586||pressure elevated intracranial D019586||pressure increase intracranial D018255||adenomatosis pulmonary D018255||adenomatoses pulmonary D018255||pulmonary adenomatoses D018255||pulmonary adenomatosis D006250|234500||hartnup disease D006250|234500||amino acid transport disorder neutral D006250|234500||hartnup disorder D006250|234500||hnd D006250|234500||neutral amino acid transport defect D006250|234500||neutral amino acid transport disorder D006250|234500||transport disorder neutral amino acid D006250|234500||transport disorder neutral amino acids D019585||intracranial hypotension D019585||essential intracranial hypotension D019585||hypotension essential intracranial D019585||hypotension intracranial D019585||hypotension secondary intracranial D019585||hypotension spontaneous intracranial D019585||intracranial hypotension essential D019585||intracranial hypotension secondary D019585||intracranial hypotension spontaneous D019585||secondary intracranial hypotension D019585||spontaneous intracranial hypotension D018254||adenomatoid tumor D018254||adenomatoid tumors D018254||tumor adenomatoid D018254||tumors adenomatoid C567472|300711||pyloric stenosis infantile hypertrophic 4 C567472|300711||ihps4 D018251||hidrocystoma D018251||hidrocystomas D018250||acrospiroma D018250||acrospiroma eccrine D018250||acrospiromas D018250||acrospiromas eccrine D018250||clear cell hidradrenoma D018250||clear cell hidradrenomas D018250||eccrine acrospiroma D018250||eccrine acrospiromas D018250||hidradenoma D018250||hidradenomas D018250||hidradenoma solid cystic D018250||hidradenomas solid cystic D018250||hidradrenoma clear cell D018250||hidradrenoma nodular D018250||hidradrenomas clear cell D018250||hidradrenomas nodular D018250||nodular hidradrenoma D018250||nodular hidradrenomas D018250||solid cystic hidradenoma D018250||solid cystic hidradenomas C537129|311070||optic atrophy polyneuropathy deafness C537129|311070||charcot marie tooth disease x linked recessive 5 C537129|311070||charcot marie tooth neuropathy x linked recessive 5 C537129|311070||cmtx5 C537129|311070||familial opticoacoustic nerve degeneration and polyneuropathy C537129|311070||optic atrophy hearing loss and peripheral neuropathy autosomal recessive C537129|311070||optic atrophy neural deafness and distal neurogenic amyotrophy C537129|311070||optic atrophy polyneuropathy and deafness C537129|311070||optic atrophy sensorineural hearing loss and polyneuropathy C537129|311070||rosenberg chutorian syndrome D031221||knee dislocation D031221||dislocation knee D031221||dislocations knee D031221||knee dislocations C563883|608656||prostate cancer hereditary 3 C563883|608656||hpc3 D057851||posterior capsular rupture ocular C565789|604348||advanced sleep phase syndrome familial C565789|604348||advanced sleep phase syndrome familial 1 C565789|604348||fasps C565789|604348||fasps1 C535903|603543||limb mammary syndrome C535903|603543||lms C535903|603543||mammary hypoplasia ectrodactyly and other hand foot anomalies C562448|608709||lipodystrophy partial acquired C562448|608709||apld C562448|608709||apld susceptibility to C562448|608709||barraquer simons syndrome C562448|608709||lipodystrophy cephalothoracic type C562448|608709||lipodystrophy partial acquired susceptibility to C562448|608709||lipodystrophy partial progressive 102510||acropectorovertebral dysplasia 102510||f syndrome D018249||adenoma oxyphilic D018249||huerthle cell tumor D018249||hurthle cell tumor D018249||oncocytoma D018249||oxyphilic adenoma C565228|609790||alzheimer disease 11 C565228|609790||ad11 C565228|609790||alzheimer disease familial 11 D018246||adrenocortical adenoma D018246||adenoma adrenal cortical D018246||adenoma adrenocortical D018246||adenoma conn D018246||adenomas adrenal cortical D018246||adenomas adrenocortical D018246||adenomas conn D018246||adrenal cortical adenoma D018246||adrenal cortical adenomas D018246||adrenocortical adenomas D018246||conn adenoma D018246||conn adenomas D018246||conn disease D018246||conn apos s disease D018246||conns disease D018246||disease conn D018246||disease conn apos s D018245||trophoblastic tumor placental site D018245||placental site trophoblastic tumor D018245||placental site trophoblastic tumors D018245||placental trophoblastic tumor D018245||placental trophoblastic tumors D018245||trophoblastic tumor placental D018245||trophoblastic tumors placental D018245||trophoblastic tumors placental site D018245||tumor placental site trophoblastic D018245||tumor placental trophoblastic D018245||tumors placental site trophoblastic D018245||tumors placental trophoblastic D018248||adenoma liver cell D018248||adenoma hepatocellular D018248||adenomas hepatocellular D018248||adenomas liver cell D018248||benign hepatoma D018248||benign hepatomas D018248||hepatocellular adenoma D018248||hepatocellular adenomas D018248||hepatoma benign D018248||hepatomas benign D018248||liver cell adenoma D018248||liver cell adenomas D031222||patellar dislocation D031222||dislocation patellar D031222||dislocations patellar D031222||patellar dislocations D019578||multiple system atrophy D019578||atrophies multisystem D019578||atrophies multisystemic D019578||atrophy multiple system D019578||atrophy multisystem D019578||atrophy multisystemic D019578||multiple system atrophies D019578||multiple system atrophy syndrome D019578||multisystem atrophies D019578||multisystem atrophy D019578||multisystemic atrophies D019578||multisystemic atrophy D019595||severe dengue D019595||dengue hemorrhagic fever D019595||dengue severe D019595||dengue shock syndrome D019595||dengues severe D019595||fever philippine hemorrhagic D019595||fever singapore hemorrhagic D019595||fever thai hemorrhagic D019595||hemorrhagic dengue D019595||hemorrhagic dengues D019595||hemorrhagic fever dengue D019595||philippine hemorrhagic fever D019595||severe dengues D019595||singapore hemorrhagic fever D019595||thai hemorrhagic fever C563161|608026||hypertensive nephropathy C563161|608026||hnp1 D018263||adenocarcinoma follicular D018263||adenocarcinomas follicular D018263||carcinoma follicular thyroid D018263||carcinomas follicular thyroid D018263||follicular adenocarcinoma D018263||follicular adenocarcinomas D018263||follicular thyroid carcinoma D018263||follicular thyroid carcinomas D018263|188470|C572845||thyroid carcinoma follicular D018263||thyroid carcinomas follicular D018266||adenocarcinoma sebaceous D018266||adenocarcinomas sebaceous D018266||sebaceous adenocarcinoma D018266||sebaceous adenocarcinomas C537799|231070||gerodermia osteodysplastica C537799|231070||geroderma osteodysplastica C537799|231070||geroderma osteodysplastica hereditaria C537799|231070||geroderma osteodysplasticum C537799|231070||go C537799|231070||walt disney dwarfism D018265||carcinoma papillary follicular 179010||ihps 179010||ihps1 D019591||pseudophakia D018262||adenocarcinoma clear cell D018262||adenocarcinomas clear cell D018262||clear cell adenocarcinoma D018262||clear cell adenocarcinomas 102530||spermatogenic failure 6 102530||acrosome malformation of spermatozoa 102530||globozoospermia 102530||round headed spermatozoa 102530||spermatozoa round headed 102530||spgf6 D018261||mesothelioma cystic D018261||cystic mesothelioma D018261||cystic mesotheliomas D018261||mesotheliomas cystic D020567||fetal weight D020567||body weight fetal D020567||body weights fetal D020567||fetal body weight D020567||fetal body weights D020567||fetal weights D020567||weight fetal D020567||weights fetal C567479|300699||mental retardation x linked 94 C567479|300699||mental retardation x linked syndromic 29 C567479|300699||mental retardation x linked syndromic wu type C567479|300699||mrx94 C567479|300699||mrxs29 C567479|300699||mrxsw D045888||ganglion cysts D045888||cyst ganglion D045888||cyst ganglionic D045888||cyst myxoid D045888||cysts ganglion D045888||cysts ganglionic D045888||cysts myxoid D045888||ganglion D045888||ganglion cyst D045888||ganglionic cyst D045888||ganglionic cysts D045888||ganglions D045888||myxoid cyst D045888||myxoid cysts C484001||riv immunoglobulin variant protein human C484001||protein riv human C562719|300622||tn syndrome C562719|300622||galactosyltransferase deficiency C562719|300622||tn polyagglutination syndrome C562719|300622||tnps 606003|C563207||transaldolase deficiency 162830|C563010||neutrophilia hereditary 607748|C564336||hypercholanemia familial 607748|C564336||fhca D057868||anastomotic leak D057868||anastomotic leakage D057868||anastomotic leakages D057868||anastomotic leaks D057868||leakage anastomotic D057868||leakages anastomotic D057868||leak anastomotic D057868||leaks anastomotic 607721||noonan syndrome like disorder with loose anagen hair 607721||nslh D019588||aging premature D019588||premature aging C537993|601472||charcot marie tooth disease type 2d C537993|601472||charcot marie tooth disease axonal type 2d C537993|601472||charcot marie tooth disease neuronal type 2d C537993|601472||charcot marie tooth neuropathy type 2d C537993|601472||cmt2d D018256||adenomatous polyps D018256||adenomatous polyp D018256||polyp adenomatous D018256||polyps adenomatous C565732|605019||hypobetalipoproteinemia familial 2 C565732|605019||fhbl2 C565732|605019||hypolipidemia familial combined D057867||endoleak D057867||endoleaks D057867||leak perigraft D057867||leaks perigraft D057867||perigraft leak D057867||perigraft leaks D018231||leiomyomatosis D018231||leiomyomatoses 208150|C536647||pena shokeir syndrome type 1 208150|C536647||arthrogryposis multiplex congenita pulmonary hypoplasia 208150|C536647||arthrogryposis multiplex congenita pulmonary hypoplasia cryptorchidism and unusual ophthalmological findings 208150|C536647||arthrogryposis multiplex congenita with pulmonary hypoplasia 208150|C536647||fads 208150|C536647||fetal akinesia deformation sequence 208150|C536647||fetal akinesia sequence 208150|C536647||lethal pena shokeir 1 syndrome 208150|C536647||pena shokeir syndrome type i C563387||rhabdomyolysis cerivastatin induced D018230||leiomyoma epithelioid D018230||epithelioid leiomyoma D018230||epithelioid leiomyomas D018230||leiomyoblastoma D018230||leiomyoblastomas D018230||leiomyomas epithelioid D018233||rhabdomyosarcoma embryonal D018233||embryonal rhabdomyosarcoma D018233||embryonal rhabdomyosarcomas D018233||rhabdomyosarcomas embryonal 607706|C539595||charcot marie tooth disease type 4a axonal form 607706|C539595||charcot marie tooth neuropathy axonal with vocal cord paresis autosomal recessive 607706|C539595||cmt2 with vocal cord paresis autosomal recessive D007579||jejunal diseases D007579||disease jejunal D007579||diseases jejunal D007579||jejunal disease D006950|144250||hyperlipidemia familial combined D006950|144250||combined hyperlipidemia familial D006950|144250||combined hyperlipidemias familial D006950|144250||familial combined hyperlipidemia D006950|144250||familial combined hyperlipidemias D006950|144250||fchl D006950|144250||hyperlipidemia multiple lipoprotein type D006950|144250||hyperlipidemias familial combined D006950|144250||hyperlipidemias multiple lipoprotein type D006950|144250||lipoprotein type hyperlipidemia multiple D006950|144250||lipoprotein type hyperlipidemias multiple D006950|144250||multiple lipoprotein type hyperlipidemia D006950|144250||multiple lipoprotein type hyperlipidemias 143095||cdmd 143095||hsd D007575||jaw edentulous D007575||edentulous jaw D007575||edentulous jaws D007575||jaws edentulous D007576||jaw edentulous partially D057873||peri implantitis D057873||periimplantitides D057873||peri implantitides D057873||periimplantitis D007580||jejunal neoplasms D007580||cancer jejunal D007580||cancer of jejunum D007580||cancer of the jejunum D007580||cancers jejunal D007580||jejunal cancer D007580||jejunal cancers D007580||jejunal neoplasm D007580||jejunum cancer D007580||jejunum cancers D007580||neoplasm jejunal D007580||neoplasms jejunal C566410|603098||deafness autosomal recessive 13 C566410|603098||dfnb13 D019559||capillary leak syndrome D019559||capillary leak syndromes D019559||clarkson disease D019559||clinical capillary leak syndrome D019559||systemic capillary leak syndrome D018228||sarcoma small cell D018228||cell sarcoma small D018228||cell sarcomas small D018228||sarcomas small cell D018228||small cell sarcoma D018228||small cell sarcomas C563390||cataracts congenital with sensorineural deafness down syndrome like facial appearance short stature and mental retardation D018227||sarcoma clear cell D018227||clear cell sarcoma D018227||clear cell sarcomas D018227||melanoma malignant of soft parts D018227||sarcomas clear cell C565524|235000||hemihyperplasia isolated C565524|235000||hemi 3 syndrome C565524|235000||hemihyperplasia C565524|235000||hemihypertrophy isolated C565524|235000||hemihypertrophy isolated hemi 3 syndrome included C565524|235000||hhp C565524|235000||ih 138500||hyperglycinuria D018229||angiomyoma D018229||angioleiomyoma D018229||angioleiomyomas D018229||angiomyomas D018229||leiomyomas vascular D018229||leiomyoma vascular D018229||vascular leiomyoma D018229||vascular leiomyomas D018224||myofibromatosis D018224||myofibromatoses C563394||aplasia cutis congenita high myopia and cone rod dysfunction D018223||dermatofibrosarcoma D018223||darier ferrand tumor D018223||darier hoffmann tumor D018223||dermatofibrosarcomas D019557||dermatitis perioral D019557||dermatitides periocular D019557||dermatitides perioral D019557||dermatitis periocular D019557||periocular dermatitides D019557||periocular dermatitis D019557||perioral dermatitides D019557||perioral dermatitis D018226||fibroadenoma D018226||fibroadenomas C566998|611155||alzheimer disease 15 C566998|611155||ad15 C563392||rolandic epilepsy mental retardation and speech dyspraxia autosomal dominant C563392||adresd C563392||resdad D018225||neoplasms fibroepithelial D018225||fibroepithelial neoplasm D018225||fibroepithelial neoplasms D018225||neoplasm fibroepithelial D018242||neuroectodermal tumors primitive D018242||cerebral primitive neuroectodermal tumor D018242||ependymoblastoma D018242||ependymoblastomas D018242||medulloepithelioma D018242||medulloepitheliomas D018242||neoplasm primitive neuroepithelial D018242||neoplasms primitive neuroepithelial D018242||neuroectodermal tumor primitive D018242||neuroepithelial neoplasm primitive D018242||neuroepithelial neoplasms primitive D018242||neuroepithelial tumor primitive D018242||neuroepithelial tumors primitive D018242||pnet D018242||pnets D018242||primitive neuroectodermal tumor D018242||primitive neuroectodermal tumors D018242||primitive neuroepithelial neoplasm D018242||primitive neuroepithelial neoplasms D018242||primitive neuroepithelial tumor D018242||primitive neuroepithelial tumors D018242||spongioblastoma D018242||spongioblastomas D018242||tumor primitive neuroectodermal D018242||tumor primitive neuroepithelial D018242||tumors primitive neuroectodermal D018242||tumors primitive neuroepithelial C563398||auditory neuropathy nonsyndromic recessive D019572||retinal neoplasms D019572||cancer of the retina D019572||cancer retinal D019572||cancers retinal D019572||neoplasm retinal D019572||neoplasms retinal D019572||retinal cancer D019572||retinal cancers D019572||retinal neoplasm D019572||retinal tumor D019572||retinal tumors D019572||tumor retinal D019572||tumors retinal D018241||neuroectodermal tumors primitive peripheral D018241||extracranial primitive neuroectodermal tumor D018241||neuroectodermal neoplasm peripheral primitive D018241||neuroectodermal tumor peripheral D018241||neuroectodermal tumor peripheral primitive D018241||neuroectodermal tumors peripheral D018241||neuroepithelioma D018241||neuroepithelioma peripheral D018241||neuroepitheliomas D018241||peripheral neuroectodermal tumor D018241||peripheral neuroectodermal tumors D018241||peripheral primitive neuroectodermal neoplasm D018241||peripheral primitive neuroectodermal tumors D018241||ppnet peripheral primitive neuroectodermal tumors D018241||primitive neuroectodermal tumor extracranial D018241||tumor peripheral neuroectodermal D018241||tumors peripheral neuroectodermal D019575||blindness cortical D019575||anton babinski syndrome D019575||anton apos s syndrome D019575||antons syndrome D019575||anton apos s syndrome transient D019575||anton syndrome D019575||blindness cortical post ictal D019575||blindness cortical transient D019575||blindnesses reversible cortical D019575||blindness reversible cortical D019575||cortical blindness D019575||cortical blindnesses reversible D019575||cortical blindness reversible D019575||psychic denial of blindness D019575||reversible cortical blindness D019575||reversible cortical blindnesses D019575||syndrome anton D019575||syndrome anton babinski D019575||syndrome anton apos s D019575||syndrome transient anton apos s D019575||transient anton apos s syndrome D019575||transient antons syndrome D019575||transient anton syndrome C564553|300245||ptosis hereditary congenital 2 C564553|300245||ptos2 C564553|300245||ptosis x linked C564553|300245||ptosx D019574||optic nerve neoplasms D019574||benign optic nerve neoplasm D019574||benign optic nerve sheath neoplasms D019574||benign optic nerve sheath tumors D019574||benign optic nerve tumor D019574||malignant optic nerve neoplasm D019574||malignant optic nerve sheath neoplasms D019574||malignant optic nerve sheath tumors D019574||malignant optic nerve tumor D019574||neoplasm benign optic nerve D019574||neoplasm optic nerve D019574||neoplasm optic nerve benign D019574||neoplasms optic nerve D019574||optic nerve neoplasm D019574||optic nerve neoplasm benign D019574||optic nerve sheath neoplasm D019574||optic nerve sheath neoplasms malignant D019574||optic nerve sheath tumors D019574||optic nerve sheath tumors benign D019574||optic nerve sheath tumors malignant D019574||optic nerve tumor malignant D019574||tumor benign optic nerve D019574||tumor malignant optic nerve D019574||tumor optic nerve benign D019574||tumor optic nerve malignant D018243||teratocarcinoma D018243||teratocarcinomas C563359|601283||diabetes mellitus noninsulin dependent 1 C563359|601283||niddm1 C563359|601283||noninsulin dependent diabetes mellitus 1 D049310|160500||distal myopathies D049310|160500||als21 D049310|160500||amyotrophic lateral sclerosis 21 D049310|160500||distal 1 myopathies D049310|160500||distal 1 myopathy D049310|160500||distal muscular dystrophies D049310|160500||distal muscular dystrophy D049310|160500||distal myopathy D049310|160500||distal myopathy 1 D049310|160500||distal myopathy 1s D049310|160500||distal myopathy laing D049310|160500||distal myopathy markesbery griggs type D049310|160500||distal myopathy udd D049310|160500||distal myopathy welander D049310|160500||finnish markesbery muscular dystrophy D049310|160500||laing distal myopathy D049310|160500||laing early onset distal myopathy D049310|160500||mpd1 D049310|160500||mpd2 formerly D049310|160500||mpd3 D049310|160500||muscular dystrophies distal D049310|160500||muscular dystrophies tibial D049310|160500||muscular dystrophy distal D049310|160500||muscular dystrophy finnish markesbery D049310|160500||muscular dystrophy tibial D049310|160500||muscular dystrophy udd markesbery D049310|160500||myopathies distal D049310|160500||myopathies distal 1 D049310|160500||myopathy 1 distal D049310|160500||myopathy 1s distal D049310|160500||myopathy distal D049310|160500||myopathy distal 1 D049310|160500||myopathy distal 2 formerly D049310|160500||myopathy distal early onset autosomal dominant D049310|160500||myopathy laing distal D049310|160500||myopathy late distal hereditary D049310|160500||myopathy udd D049310|160500||myopathy udd distal D049310|160500||tardive tibial muscular dystrophy D049310|160500||tibial muscular dystrophy D049310|160500||tibial muscular dystrophy tardive D049310|160500||tmd D049310|160500||udd distal myopathy D049310|160500||udd markesbery muscular dystrophy D049310|160500||udd myopathy D049310|160500||vcpdm formerly D049310|160500||vocal cord and pharyngeal dysfunction with distal myopathy formerly D019571||arrhythmogenic right ventricular dysplasia D019571||arrhythmogenic right ventricular cardiomyopathy D019571||arrhythmogenic right ventricular cardiomyopathy dysplasia D019571||arrhythmogenic right ventricular dysplasia cardiomyopathy D019571||arvd c D019571||right ventricular dysplasia arrhythmogenic D019571||ventricular dysplasia right arrhythmogenic D018240||endodermal sinus tumor D018240||endodermal sinus tumors D018240||tumor endodermal sinus D018240||tumors endodermal sinus D018240||tumors yolk sac D018240||tumor yolk sac D018240||yolk sac tumor D018240||yolk sac tumors 304340|C535773||mental retardation x linked syndromic 5 304340|C535773||dandy walker malformation with mental retardation basal ganglia disease and seizures 304340|C535773||mental retardation x linked with dandy walker malformation basal ganglia disease and seizures 304340|C535773||mrxs5 304340|C535773||pettigrew syndrome 304340|C535773||pgs D006259||craniocerebral trauma D006259||craniocerebral injuries D006259||craniocerebral injury D006259||craniocerebral traumas D006259||crushing skull injuries D006259||crushing skull injury D006259||forehead trauma D006259||forehead traumas D006259||frontal region trauma D006259||frontal region traumas D006259||head injuries D006259||head injuries minor D006259||head injuries multiple D006259||head injuries open D006259||head injuries superficial D006259||head injury D006259||head injury minor D006259||head injury multiple D006259||head injury open D006259||head injury superficial D006259||head trauma D006259||head traumas D006259||injuries craniocerebral D006259||injuries head D006259||injuries minor head D006259||injuries multiple head D006259||injuries open head D006259||injuries superficial head D006259||injury craniocerebral D006259||injury head D006259||injury minor head D006259||injury multiple head D006259||injury open head D006259||injury superficial head D006259||minor head injuries D006259||minor head injury D006259||multiple head injuries D006259||multiple head injury D006259||occipital region trauma D006259||occipital region traumas D006259||occipital trauma D006259||occipital traumas D006259||open head injuries D006259||open head injury D006259||parietal region trauma D006259||parietal region traumas D006259||region trauma frontal D006259||region trauma occipital D006259||region trauma parietal D006259||region traumas frontal D006259||region traumas occipital D006259||region traumas parietal D006259||skull injuries crushing D006259||skull injury crushing D006259||superficial head injuries D006259||superficial head injury D006259||temporal region trauma D006259||temporal region traumas D006259||trauma craniocerebral D006259||trauma forehead D006259||trauma frontal region D006259||trauma head D006259||trauma occipital D006259||trauma occipital region D006259||trauma parietal region D006259||traumas craniocerebral D006259||traumas forehead D006259||traumas frontal region D006259||traumas head D006259||traumas occipital D006259||traumas occipital region D006259||traumas parietal region D006259||traumas temporal region D006259||trauma temporal region D006258||head and neck neoplasms D006258||cancer of head D006258||cancer of head and neck D006258||cancer of neck D006258||cancer of the head D006258||cancer of the head and neck D006258||cancer of the neck D006258||head and neck cancer D006258||head cancer D006258||head neck neoplasms D006258||head neoplasms D006258||neck cancer D006258||neck neoplasms D006258||neoplasms head D006258||neoplasms head and neck D006258||neoplasms neck D006258||neoplasms uadt D006258||neoplasms upper aerodigestive tract D006258||neoplasm uadt D006258||uadt neoplasm D006258||uadt neoplasms D006258||upper aerodigestive tract neoplasms D006255||rhinitis allergic seasonal D006255||allergic rhinitides seasonal D006255||allergic rhinitis seasonal D006255||allergies pollen D006255||allergy pollen D006255||fever hay D006255||hayfever D006255||hay fever D006255||pollen allergies D006255||pollen allergy D006255||pollinoses D006255||pollinosis D006255||rhinitides seasonal allergic D006255||rhinitis seasonal allergic D006255||seasonal allergic rhinitides D006255||seasonal allergic rhinitis C537596|201470||short chain acyl coa dehydrogenase deficiency C537596|201470||acadsd C537596|201470||acads deficiency C537596|201470||acyl coa dehydrogenase short chain deficiency of C537596|201470||deficiency of butyryl coa dehydrogenase C537596|201470||lipid storage myopathy secondary to short chain acyl coa dehydrogenase deficiency C537596|201470||scad deficiency C537596|201470||scadh deficiency C537596|201470||short chain acyl coenzyme a dehydrogenase deficiency D007593||joint instability D007593||hypermobilities joint D007593||hypermobility joint D007593||instabilities joint D007593||instability joint D007593||joint hypermobilities D007593||joint hypermobility D007593||joint instabilities D007593||joint laxities D007593||joint laxity D007593||laxities joint D007593||laxity joint D057885||triploidy D057885||triploid D057885||triploidies D057885||triploids D007594||joint loose bodies D007594||joint loose body D007594||loose bodies joint D007594||loose body joint 121900|C537304||groenouw type i corneal dystrophy 121900|C537304||cdgg1 121900|C537304||corneal dystrophy granular type 121900|C537304||corneal dystrophy groenouw type i 121900|C537304||corneal dystrophy punctate or nodular 121900|C537304||gcd1 121900|C537304||granular corneal dystrophy type i D007592||joint diseases D007592||disease joint D007592||diseases joint D007592||joint disease D006261||headache D006261||bilateral headache D006261||bilateral headaches D006261||cephalalgia D006261||cephalalgias D006261||cephalgia D006261||cephalgias D006261||cephalodynia D006261||cephalodynias D006261||cranial pain D006261||cranial pains D006261||generalized headache D006261||generalized headaches D006261||headache bilateral D006261||headache generalized D006261||headache ocular D006261||headache orthostatic D006261||headache periorbital D006261||headache retro ocular D006261||headaches D006261||headaches bilateral D006261||headaches generalized D006261||headache sharp D006261||headaches ocular D006261||headaches orthostatic D006261||headaches periorbital D006261||headaches retro ocular D006261||headaches sharp D006261||headaches throbbing D006261||headaches unilateral D006261||headaches vertex D006261||headache throbbing D006261||headache unilateral D006261||headache vertex D006261||head pain D006261||head pains D006261||hemicrania D006261||ocular headache D006261||ocular headaches D006261||orthostatic headache D006261||orthostatic headaches D006261||pain cranial D006261||pain head D006261||pains cranial D006261||pains head D006261||periorbital headache D006261||periorbital headaches D006261||retro ocular headache D006261||retro ocular headaches D006261||sharp headache D006261||sharp headaches D006261||throbbing headache D006261||throbbing headaches D006261||unilateral headache D006261||unilateral headaches D006261||vertex headache D006261||vertex headaches 125310|D046589||cadasil 125310|D046589||cadasilm 125310|D046589||casil 125310|D046589||cerebral arteriopathy autosomal dominant with subcortical infarcts and leukoencephalopathy 125310|D046589||cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 125310|D046589||cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 125310|D046589||dementia hereditary multi infarct type D018239||seminoma D018239||seminomas 243800|C535880||johanson blizzard syndrome 243800|C535880||ectodermal dysplasia exocrine pancreatic insufficiency 243800|C535880|147791|D054868||jbs 243800|C535880||malabsorption ectodermal dysplasia nasal alar hypoplasia 243800|C535880||nasal alar hypoplasia hypothyroidism pancreatic achylia and congenital deafness 243800|C535880||nasal alar hypoplasia hypothyroidism pancreatic achylia congenital deafness D019569||hemifacial spasm D019569||facial spasms unilateral D019569||facial spasm unilateral D019569||hemifacial myokymia D019569||hemifacial spasms D019569||myokymia hemifacial D019569||spasm hemifacial D019569||spasms hemifacial D019569||spasms unilateral facial D019569||spasm unilateral facial D019569||unilateral facial spasm D019569||unilateral facial spasms D018238||gonadoblastoma D018238||gonadoblastomas C566545|602459||deafness autosomal dominant 15 C566545|602459||dfna15 D018235||smooth muscle tumor D018235||muscle tumor smooth D018235||muscle tumors smooth D018235||smooth muscle tumors D018235||tumor smooth muscle D018235||tumors smooth muscle D057887||overbite D057887||bite deep D057887||bites deep D057887||deep bite D057887||deep bites D057887||dental overjet D057887||dental overjets D057887||incisor protrusion D057887||incisor protrusions D057887||overbites D057887||overjet dental D057887||overjets dental D057887||protrusion incisor D057887||protrusions incisor D019568||lung hyperlucent D019568||hyperlucent lung D019568||hyperlucent lungs D019568||hyperlucent lungs unilateral D019568||hyperlucent lung unilateral D019568||hyperlucent thorax D019568||lungs hyperlucent D019568||lungs unilateral hyperlucent D019568||lung unilateral hyperlucent D019568||macleod syndrome D019568||swyer james syndrome D019568||syndrome macleod D019568||syndrome swyer james D019568||thorax hyperlucent D019568||unilateral hyperlucent lung D019568||unilateral hyperlucent lungs D018237||germinoma D018237||germinomas D019567||back injuries D019567||back injury D019567||injuries back D019567||injury back D018236||carcinoma embryonal D018236||carcinomas embryonal D018236||embryonal carcinoma D018236||embryonal carcinomas D044584||carcinoma ductal D044584||carcinomas ductal D044584||ductal carcinoma D044584||ductal carcinomas C537077||febrile ulceronecrotic mucha habermann disease C537077||ulceronecrotic mucha habermann disease 188470|C572845||thyroid cancer follicular 188470|C572845||ftc D018211||chondrosarcoma mesenchymal D018211||chondrosarcomas mesenchymal D018211||mesenchymal chondrosarcoma D018211||mesenchymal chondrosarcomas C565725|609741||cataract congenital nuclear autosomal recessive 2 C565725|609741||cataract 22 C565725|609741||cataract 22 nuclear C565725|609741||catcn2 C565725|609741||ctrct22 D018210||chondromatosis D018210||chondromatoses C537076||faye petersen ward carey syndrome 242860||immunodeficiency centromeric instability facial anomalies syndrome 1 242860||ciid 242860||icf1 242860||immune deficiency variable with centromeric instability of chromosomes 1 9 and 16 D021865||isosporiasis D021865||isosporiases C565199|610685||split hand foot malformation with long bone deficiency 2 C565199|610685||shfld2 C563368||craniosynostosis philadelphia type D021866||cyclosporiasis D021866||cyclosporiases C564698||episodic ataxia type 4 C564698||ataxia periodic vestibulocerebellar C564698||periodic vestibulocerebellar ataxia D006228||hand deformities congenital D006228||congenital hand deformities D006228||congenital hand deformity D006228||deformities congenital hand D006228||deformity congenital hand D006228||hand deformity congenital D006229||hand dermatoses D006229||dermatoses hand D006229||dermatosis hand D006229||hand dermatosis D006226||hand deformities D006226||deformities hand D006226||deformity hand D006226||hand deformity D006227||hand deformities acquired D006227||acquired hand deformities D006227||acquired hand deformity D006227||deformities acquired hand D006227||deformity acquired hand D006227||hand deformity acquired C535478|136800||corneal dystrophy fuchs apos endothelial 1 C535478|136800||corneal dystrophy fuchs endothelial 1 C535478|136800||corneal dystrophy fuchs apos endothelial early onset C535478|136800||corneal dystrophy fuchs endothelial early onset C535478|136800||dystrophia epithelialis corneae C535478|136800||fecd1 C535478|136800||fuchs apos dystrophy C535478|136800||fuchs apos endothelial corneal dystrophy early onset C537074||fara chlupackova syndrome C537074||familial oto facio cervical dysmorphia D006222||hamartoma D006222||hamartomas C537071||follicular hamartoma alopecia cystic fibrosis C537071||congenital generalized follicular hamartoma associated with alopecia and cystic fibrosis D003394|123500||craniofacial dysostosis D003394|123500||cfd1 D003394|123500||craniofacial dysarthrosis D003394|123500||craniofacial dysostoses D003394|123500||craniofacial dysostosis crouzon D003394|123500||craniofacial dysostosis syndrome D003394|123500||craniofacial dysostosis type 1 D003394|123500||craniofacial dysostosis type 1 cfd1 D003394|123500||craniofacial dysostosis type i D003394|123500||crouzon craniofacial dysostosis D003394|123500||crouzon disease D003394|123500||crouzon apos s disease D003394|123500||crouzons disease D003394|123500||crouzon syndrome D003394|123500||disease crouzon D003394|123500||disease crouzon apos s D003394|123500||dysostoses craniofacial D003394|123500||dysostosis craniofacial D003394|123500||dysostosis crouzon craniofacial D003394|123500||syndrome crouzon C537072||nonpuerperal galactorrhea C537072||ahumada del castillo syndrome C537072||amenorrhea galactorrhea fsh decrease syndrome C537072||amenorrhea galactorrhea nonpuerperal C537072||amenorrhea galactorrhea syndrome C537072||argonz ahumada del castillo syndrome C537072||argonz del castillo syndrome C537072||forbes albright syndrome C537072||galactorrhea amenorrhea syndrome C537072||galactorrhea amenorrhea without pregnancy C537072||nonpuerperal galactorrhea amenorrhea D006232||hand foot and mouth disease D006232||hand foot mouth disease D057896||striae distensae D057896||distensae striae D057896||marks stretch D057896||mark stretch D057896||stretch mark D057896||stretch marks D006230||hand injuries D006230||hand injury D006230||injuries hand D006230||injury hand D018209||myelolipoma D018209||myelolipomas C563437|600852||retinitis pigmentosa 17 C563437|600852||rp17 D057891||tetraploidy D057891||tetraploid D057891||tetraploidies D057891||tetraploids D018206||angiolipoma D018206||angiolipomas D018205||neoplasms adipose tissue D018205||adipose tissue neoplasm D018205||adipose tissue neoplasms D018205||neoplasm adipose tissue D018207||angiomyolipoma D018207||angiomyolipomas 612281||ichthyosis congenital autosomal recessive 6 612281||arci6 612281||ichthyosis congenital autosomal recessive nipal4 related D018202||pulmonary blastoma D018202||blastoma pulmonary D018202||blastomas pulmonary D018202||pulmonary blastomas C567834|612976||presbycusis 2 C567834|612976||age related hearing impairment 2 C567834|612976||arhi2 D018201||nephroma mesoblastic D018201||congenital mesoblastic nephroma D018201||congenital mesoblastic nephromas D018201||mesoblastic nephroma D018201||mesoblastic nephroma congenital D018201||mesoblastic nephromas congenital D018201||nephroma congenital mesoblastic D018201||nephromas congenital mesoblastic D018201||nephromas mesoblastic D018204||neoplasms connective and soft tissue D018204||connective and soft tissue neoplasms C563370||alopecia mental retardation syndrome with convulsions and hypergonadotropic hypogonadism D019534||shoulder impingement syndrome D019534||impingement syndrome shoulder D019534||impingement syndromes shoulder D019534||impingement syndromes subacromial D019534||impingement syndrome subacromial D019534||shoulder impingement syndromes D019534||subacromial impingement syndrome D019534||subacromial impingement syndromes D019534||syndrome shoulder impingement D019534||syndromes shoulder impingement D019534||syndromes subacromial impingement D019534||syndrome subacromial impingement D018203||sarcoma endometrial stromal D018203||endometrial stromal sarcoma D018203||endometrial stromal sarcomas D018203||sarcomas endometrial stromal D018203||stromal sarcoma endometrial D018203||stromal sarcomas endometrial D018220||fibroma desmoplastic D018220||desmoplastic fibroma D018220||desmoplastic fibromas D018220||fibromas desmoplastic D019553||tooth nonvital D019553||devitalized teeth D019553||devitalized tooth D019553||endodontically treated teeth D019553||endodontically treated tooth D019553||nonvital teeth D019553||nonvital tooth D019553||pulpless teeth D019553||pulpless tooth D019553||teeth devitalized D019553||teeth endodontically treated D019553||teeth nonvital D019553||teeth pulpless D019553||tooth devitalized D019553||tooth endodontically treated D019553||tooth pulpless D018222||fibromatosis aggressive D018222||aggressive fibromatoses D018222||aggressive fibromatosis D018222||desmoid D018222||desmoids D018222||fibromatoses aggressive C563374||hypocalcemia autosomal dominant with bartter syndrome C537086||brachydactylous dwarfism mseleni type C537086||brachydactylous dwarfs of mseleni D018221||fibromatosis abdominal D018221||abdominal fibromatoses D018221||abdominal fibromatosis D018221||fibromatoses abdominal C563373||hypercalciuric hypercalcemia C537087||brachydactyly preaxial with hallux varus and thumb abduction C537087||christian brachydactyly C537087||dominant preaxial brachydactyly with hallux varus and thumb abduction C563378||muscular dystrophy congenital with severe central nervous system atrophy and absence of large myelinated fibers D020526||brain stem infarctions D020526||benedict syndrome D020526||brainstem infarction D020526||brain stem infarction D020526||brainstem infarctions D020526||brainstem stroke D020526||claude syndrome D020526||foville syndrome D020526||infarction brainstem D020526||infarction brain stem D020526||infarctions brainstem D020526||infarctions brain stem D020526||millard gublar syndrome D020526||stroke brainstem D020526||syndrome millard gublar D020526||top of the basilar syndrome D020526||weber syndrome C536338|175850||porokeratosis punctata palmaris et plantaris C536338|175850||keratoderma palmoplantar punctate type ii C536338|175850||porok2 C536338|175850||porokeratosis 2 palmar plantar and disseminated type C536338|175850||porokeratosis palmar plantar and disseminated C536338|175850||pppd C536338|175850||pppd1 C537080||baritosis C537080||deposition of barium in the lungs C537080||inhalation of barytes D007569||jaw abnormalities D007569||abnormalities jaw D007569||abnormality jaw D007569||jaw abnormality D020522||lymphoma mantle cell D020522||centrocytic small cell lymphoma D020522||centrocytic small cell lymphomas D020522||diffuse lymphocytic lymphoma poorly differentiated D020522||lymphocytic lymphoma diffuse poorly differentiated D020522||lymphoma centrocytic small cell D020522||lymphoma lymphocytic diffuse intermediate differentiated D020522||lymphoma lymphocytic diffuse poorly differentiated D020522||lymphoma lymphocytic intermediate D020522||lymphoma mantle zone D020522||lymphomas centrocytic small cell D020522||lymphoma small cell centrocytic D020522||lymphomas mantle cell D020522||lymphomas mantle zone D020522||mantle cell lymphoma D020522||mantle cell lymphomas D020522||mantle zone lymphoma D020522||mantle zone lymphomas D020522||small cell lymphoma centrocytic D020522||small cell lymphomas centrocytic C537084||brachioskeletogenital syndrome D007567||jaundice neonatal D007567||icterus gravis neonatorum D007567||jaundice physiological neonatal D007567||neonatal jaundice D007567||neonatal jaundice physiological D007567||physiological neonatal jaundice D007567||severe jaundice in neonate D007567||severe jaundice in newborn C537085||brachycephalofrontonasal dysplasia C537085||hypertelorism teebi type C537085||teebi hypertelorism syndrome D020520||brain infarction D020520||anterior cerebral circulation infarction D020520||anterior circulation brain infarction D020520||anterior circulation infarction brain D020520||brain infarction anterior circulation D020520||brain infarction posterior circulation D020520||brain infarctions D020520||brain infarctions venous D020520||brain infarction venous D020520||brain venous infarction D020520||brain venous infarctions D020520||infarction anterior cerebral circulation D020520||infarction anterior circulation brain D020520||infarction brain D020520||infarction brain anterior circulation D020520||infarction brain posterior circulation D020520||infarction brain venous D020520||infarction posterior circulation brain D020520||infarctions brain D020520||infarctions brain venous D020520||infarctions venous brain D020520||infarction venous brain D020520||posterior circulation brain infarction D020520||posterior circulation infarction brain D020520||venous brain infarction D020520||venous brain infarctions D020520||venous infarction brain D020520||venous infarctions brain C537082||weismann netter syndrome C537082||anterior bowing of legs with dwarfism C537082||bowing of legs anterior with dwarfism C537082||toxopachyosteose diaphysaire tibio peroniere C537082||toxopachyosteosis C537082||toxopachyoteose diaphysaire tibio peroniere C537082||weismann netter stuhl syndrome D007565||jaundice D007565||hemolytic jaundice D007565||hemolytic jaundices D007565||icterus D007565||jaundice hemolytic D007565||jaundices hemolytic 607487|C564388||cardiomyopathy dilated 1n 607487|C564388||cmd1n C537083||boylan dew greco syndrome C537083||congenital hypomyelination neuropathy with arthrogryposis multiplex congenita D007573||jaw neoplasms D007573||cancer jaw D007573||cancer of jaw D007573||cancer of the jaw D007573||cancers jaw D007573||jaw cancer D007573||jaw cancers D007573||jaw neoplasm D007573||neoplasm jaw D007573||neoplasms jaw D007571||jaw diseases D007571||disease jaw D007571||diseases jaw D007571||jaw disease D007572||jaw fractures D007572||fracture jaw D007572||fractures jaw D007572||jaw fracture D007570||jaw cysts D007570||cyst jaw D007570||cysts jaw D007570||jaw cyst D020529||multiple sclerosis relapsing remitting D020529||acute relapsing multiple sclerosis D020529||multiple sclerosis acute relapsing D020529||multiple sclerosis remitting relapsing D020529||relapsing remitting multiple sclerosis D020529||remitting relapsing multiple sclerosis D020528||multiple sclerosis chronic progressive D020528||chronic progressive multiple sclerosis D020528||multiple sclerosis primary progressive D020528||multiple sclerosis progressive relapsing D020528||multiple sclerosis remittent progressive D020528||multiple sclerosis secondary progressive D020528||primary progressive multiple sclerosis D020528||progressive relapsing multiple sclerosis D020528||remittent progressive multiple sclerosis D020528||secondary progressive multiple sclerosis 300514|C564497||fanconi anemia complementation group b 300514|C564497||fa2 300514|C564497||facb 300514|C564497||fancb 300514|C564497||fanconi pancytopenia type 2 D018217||osteosarcoma juxtacortical D018217||juxtacortical osteosarcoma D018217||juxtacortical osteosarcomas D018217||osteosarcomas juxtacortical D019547||neck pain D019547||ache neck D019547||aches neck D019547||anterior cervical pain D019547||anterior cervical pains D019547||anterior neck pain D019547||anterior neck pains D019547||cervicalgia D019547||cervicalgias D019547||cervical pain D019547||cervical pain anterior D019547||cervical pain posterior D019547||cervical pains D019547||cervical pains anterior D019547||cervical pains posterior D019547||cervicodynia D019547||cervicodynias D019547||neckache D019547||neck ache D019547||neckaches D019547||neck aches D019547||neck pain anterior D019547||neck pain posterior D019547||neck pains D019547||neck pains anterior D019547||neck pains posterior D019547||pain anterior cervical D019547||pain anterior neck D019547||pain cervical D019547||pain neck D019547||pain posterior cervical D019547||pain posterior neck D019547||pains anterior cervical D019547||pains anterior neck D019547||pains cervical D019547||pains neck D019547||pains posterior cervical D019547||pains posterior neck D019547||posterior cervical pain D019547||posterior cervical pains D019547||posterior neck pain D019547||posterior neck pains D005776|230800||gaucher disease D005776|230800||acid beta glucosidase deficiency D005776|230800||acid beta glucosidase deficiency disease D005776|230800||acute neuronopathic gaucher disease D005776|230800||cerebroside lipidoses glucosyl D005776|230800||cerebroside lipidosis glucosyl D005776|230800||cerebroside lipidosis syndrome D005776|230800||cerebroside lipidosis syndromes D005776|230800||chronic gaucher disease D005776|230800||deficiencies gba D005776|230800||deficiencies glucocerebrosidase D005776|230800||deficiency disease glucocerebrosidase D005776|230800||deficiency diseases glucocerebrosidase D005776|230800||deficiency gba D005776|230800||deficiency glucocerebrosidase D005776|230800||disease chronic gaucher D005776|230800||disease gaucher D005776|230800||disease gauchers D005776|230800||disease gaucher apos s D005776|230800||disease glucocerebrosidase deficiency D005776|230800||disease infantile gaucher D005776|230800||disease juvenile gaucher D005776|230800||disease neuronopathic gaucher D005776|230800||disease non neuronopathic gaucher D005776|230800||diseases gauchers D005776|230800||diseases glucocerebrosidase deficiency D005776|230800||gaucher disease acute neuronopathic D005776|230800||gaucher disease acute neuronopathic type D005776|230800||gaucher disease chronic D005776|230800||gaucher disease chronic neuronopathic type D005776|230800||gaucher disease infantile D005776|230800||gaucher disease infantile cerebral D005776|230800||gaucher disease juvenile D005776|230800||gaucher disease juvenile and adult cerebral D005776|230800||gaucher disease juvenile and adult cerebral gaucher disease type iiia included D005776|230800||gaucher disease neuronopathic D005776|230800||gaucher disease noncerebral juvenile D005776|230800||gaucher disease non neuronopathic D005776|230800||gaucher disease non neuronopathic form D005776|230800||gaucher disease norrbottnian type included D005776|230800||gaucher disease subacute neuronopathic form D005776|230800||gaucher disease subacute neuronopathic type D005776|230800||gaucher disease type 1 D005776|230800||gaucher disease type 2 D005776|230800||gaucher disease type 3 D005776|230800||gaucher disease type i D005776|230800||gaucher disease type ii D005776|230800||gaucher disease type iii D005776|230800||gaucher disease type iiib included D005776|230800||gaucher apos s disease D005776|230800||gauchers disease D005776|230800||gauchers diseases D005776|230800||gaucher splenomegaly D005776|230800||gaucher syndrome D005776|230800||gba deficiencies D005776|230800||gba deficiency D005776|230800||gd i D005776|230800||gd ii D005776|230800||gd iii D005776|230800||glucocerebrosidase deficiencies D005776|230800||glucocerebrosidase deficiency D005776|230800||glucocerebrosidase deficiency disease D005776|230800||glucocerebrosidase deficiency diseases D005776|230800||glucocerebrosidoses D005776|230800||glucocerebrosidosis D005776|230800||glucosylceramidase deficiency D005776|230800||glucosylceramide beta glucosidase deficiency D005776|230800||glucosylceramide beta glucosidase deficiency disease D005776|230800||glucosylceramide lipidoses D005776|230800||glucosylceramide lipidosis D005776|230800||glucosyl cerebroside lipidoses D005776|230800||glucosyl cerebroside lipidosis D005776|230800||histiocytoses kerasin D005776|230800||histiocytoses lipoid kerasin type D005776|230800||histiocytosis kerasin D005776|230800||histiocytosis lipoid kerasin type D005776|230800||infantile gaucher disease D005776|230800||juvenile gaucher disease D005776|230800||kerasin histiocytoses D005776|230800||kerasin histiocytosis D005776|230800||kerasin lipoidoses D005776|230800||kerasin lipoidosis D005776|230800||kerasin thesaurismoses D005776|230800||kerasin thesaurismosis D005776|230800||lipidoses glucosylceramide D005776|230800||lipidoses glucosyl cerebroside D005776|230800||lipidosis glucosylceramide D005776|230800||lipidosis glucosyl cerebroside D005776|230800||lipidosis syndrome cerebroside D005776|230800||lipidosis syndromes cerebroside D005776|230800||lipoid histiocytoses kerasin type D005776|230800||lipoid histiocytosis kerasin type D005776|230800||lipoidoses kerasin D005776|230800||lipoidosis kerasin D005776|230800||neuronopathic gaucher disease D005776|230800||non neuronopathic gaucher disease D005776|230800||splenomegaly gaucher D005776|230800||subacute neuronopathic gaucher disease D005776|230800||syndrome cerebroside lipidosis D005776|230800||syndrome gaucher D005776|230800||syndromes cerebroside lipidosis D005776|230800||thesaurismoses kerasin D005776|230800||thesaurismosis kerasin D005776|230800||type 1 gaucher disease D005776|230800||type 2 gaucher disease D005776|230800||type 3 gaucher disease D018216||osteochondromatoses D018219||histiocytoma benign fibrous D018219||angioma sclerosing D018219||angiomas sclerosing D018219||benign fibrous histiocytoma D018219||benign fibrous histiocytomas D018219||cutaneous histiocytoma D018219||cutaneous histiocytomas D018219||dermatofibroma D018219||dermatofibromas D018219||fibrous histiocytoma D018219||fibrous histiocytoma benign D018219||fibrous histiocytomas D018219||fibrous histiocytomas benign D018219||hemangioma sclerosing D018219||hemangiomas sclerosing D018219||histiocytoma cutaneous D018219||histiocytoma fibrous D018219||histiocytomas benign fibrous D018219||histiocytomas cutaneous D018219||histiocytomas fibrous D018219||sclerosing angioma D018219||sclerosing angiomas D018219||sclerosing hemangioma D018219||sclerosing hemangiomas D018218||neoplasms fibrous tissue D018218||fibrous tissue neoplasm D018218||fibrous tissue neoplasms D018218||neoplasm fibrous tissue D018213||neoplasms bone tissue D018213||bone tissue neoplasm D018213||bone tissue neoplasms D018213||bony tissue neoplasm D018213||bony tissue neoplasms D018213||neoplasm bone tissue D018213||neoplasm bony tissue D018213||neoplasms bony tissue D018213||tissue neoplasm bone D018213||tissue neoplasm bony D018213||tissue neoplasms bone D018213||tissue neoplasms bony C563383||lissencephaly type iii and bone dysplasia D018212||giant cell tumor of bone C563382||trisomy 18 like syndrome D018215||osteoblastoma D018215||giant osteoid osteoma D018215||giant osteoid osteomas D018215||osteoblastomas D018215||osteoid osteoma giant D018215||osteoid osteomas giant D018215||osteoma giant osteoid D018215||osteomas giant osteoid 612539|C567262||spastic paraplegia 42 autosomal dominant 612539|C567262||spg42 D018214||fibroma ossifying D018214||fibromas ossifying D018214||ossifying fibroma D018214||ossifying fibromas C563380||diaphragmatic defects limb deficiencies and ossification defects of skull C537099||brachyolmia recessive hobaek type C537099||brachyolmia recessive type of hobaek C537099||brachyolmia type 1 hobaek type C537099||spondylodysplasia with pure brachyolmia C563342||mental retardation microcephaly epilepsy and coarse face C563341||microcephaly congenital heart disease unilateral renal agenesis and hyposegmented lungs C537097||brachymesophalangy 2 and 5 C537097||brachydactyly temtamy type C537097||brachydactyly type a4 C537097||brachymesophalangy ii and v C537097||temtamy type brachydactyly C563817|607554||atrial fibrillation familial 3 C563817|607554||atfb3 C537098||brachyolmia C563347||ectodermal dysplasia with natal teeth turnpenny type C563346||martinez frias syndrome C563346||diabetes neonatal with pancreatic hypoplasia intestinal atresia and gallbladder aplasia or hypoplasia C563346||pancreatic hypoplasia intestinal atresia and gallbladder aplasia or hypoplasia with or without tracheoesophageal fistula C564676||dyskinesia familial with facial myokymia C563345||myelodysplasia immunodeficiency facial dysmorphism short stature and psychomotor delay D006209||halitosis D006209||halitoses C563344||ectrodactyly of lower limbs congenital heart defect and micrognathia C537091||brachydactyly type a5 nail dysplasia C537091||absent middle phalanges of digits 2 5 with nail dysplasia C537091||brachydactyly type a5 with nail dysplasia D020514||familial hypokalemic periodic paralysis D020514||hypokalemic periodic paralysis familial D020514||hypokpp D020514||hypopp D020514||paralysis hypokalemic periodic D020514||periodic paralysis hypokalemic D020514||periodic paralysis hypokalemics D020514||primary hypokalemic periodic paralysis D020514||westphall disease C537092||brachydactyly type a6 C537092||osebold remondini syndrome C563349||atrophia maculosa varioliformis cutis familial C563349||varioliform macular atrophy of the skin C563348||spinal dysplasia anhalt type C537090||brachydactyly type a3 C537090||brachydactyly clinodactyly C537090||brachymesophalangy 5 C537090||brachymesophalangy v D008865||microstomia D008865||microstomias D020511||neuromuscular junction diseases D020511||neuromuscular junction disease D020511||neuromuscular junction disorder D020511||neuromuscular junction disorders D020511||neuromuscular junction toxic disorders D020511||neuromuscular transmission disorder D020511||neuromuscular transmission disorders D020511||toxic disorders neuromuscular junction C563839|608890||waardenburg syndrome type 2d C563839|608890||waardenburg syndrome type iid C563839|608890||ws2d 277480|D056729||von willebrand disease type 3 277480|D056729||3 vwd type 277480|D056729||type 3 von willebrand apos s disease 277480|D056729||type 3 vwd 277480|D056729||von willebrand disease severe form 277480|D056729||von willebrand disease type iii 277480|D056729||vwd3 277480|D056729||vwd type 3 C537096||brachymesomelia renal syndrome C537096||langer nishino yamaguchi syndrome D006201||hair diseases D006201||hair disease C537094||brachydactyly types b and e combined C537094||brachydactyly ballard type C537094||brachydactyly combined b and e types C537094||pitt williams brachydactyly 132400|C535501||epiphyseal dysplasia multiple 1 132400|C535501||edm1 132400|C535501||epiphyseal dysplasia ribbing type included 132400|C535501||multiple epiphyseal dysplasia cartilage oligomeric matrix protein related 132400|C535501||multiple epiphyseal dysplasia comp related 132400|C535501||multiple epiphyseal dysplasia comp related epiphyseal dysplasia fairbank type included D056586||acute chest syndrome D056586||acute chest syndromes D056586||syndrome acute chest D056586||syndromes acute chest D020518||focal nodular hyperplasia D020518||focal nodular hyperplasias D020518||hyperplasia focal nodular D020518||hyperplasias focal nodular C536607|601003||brody myopathy C536607|601003||autosomal recessive brody myopathy C536607|601003||brody disease D020516||brachial plexus neuropathies D020516||brachial plexopathy D020516||brachial plexus disease D020516||brachial plexus diseases D020516||brachial plexus disorder D020516||brachial plexus disorders D020516||brachial plexus neuropathy D020516||dejerine klumpke palsy D020516||erb duchenne paralyses D020516||erb duchenne paralysis D020516||erb palsy D020516||erb paralyses D020516||erb paralysis D020516||erb apos s palsies D020516||erb apos s palsy D020516||erbs palsy D020516||klumpke palsy D020516||klumpke paralysis D020516||klumpke apos s palsy D020516||klumpkes palsy D020516||lower brachial plexus neuropathy D020516||lower brachial plexus palsy D020516||middle brachial plexus neuropathy D020516||neuropathies brachial plexus D020516||neuropathy brachial plexus D020516||palsies erb apos s D020516||palsy dejerine klumpke D020516||palsy erb apos s D020516||palsy klumpke apos s D020516||paralyses erb D020516||paralyses erb duchenne D020516||paralysis erb D020516||paralysis erb duchenne D020516||paralysis klumpke D020516||paralysis of the lower brachial plexus D020516||plexopathies brachial D020516||plexopathy brachial D020516||plexus disease brachial D020516||plexus diseases brachial D020516||plexus disorder brachial D020516||plexus disorders brachial D020516||plexus neuropathies brachial D020516||plexus neuropathy brachial D020516||upper brachial plexus neuropathy 612263||melanoma cutaneous malignant susceptibility to 7 612263||cmm7 C536761|300751||x linked sideroblastic anemia C536761|300751||anemia hereditary sideroblastic C536761|300751||anemia sex linked hypochromic sideroblastic C536761|300751||anemia sideroblastic x linked C536761|300751||anh1 C536761|300751||congenital sideroblastic anaemia C536761|300751||erythroid 5 aminolevulinate synthase deficiency C536761|300751||hereditary iron loading anemia C536761|300751||x chromosome linked sideroblastic anemia C536761|300751||x linked pyridoxine responsive sideroblastic anemia C536761|300751||xlsa D003025|119800||clubfoot D003025|119800||ccf D003025|119800||clubfoot congenital D003025|119800||clubfoot congenital with or without deficiency of long bones and or mirror image polydactyly D003025|119800||congenital talipes equinovarus D003025|119800||equinovarus D003025|119800||pie torcido D003025|119800||pie torcidos D003025|119800||talipe D003025|119800||talipes D003025|119800||talipes equinovarus D003025|119800||talipes equinovarus congenital D019512||pancreatitis alcoholic D019512||alcoholic pancreatitis C563977|600195||venous malformations multiple cutaneous and mucosal C563977|600195||mucocutaneous venous malformations C563977|600195||multiple cutaneous and mucosal venous malformations C563977|600195||vmcm C563977|600195||vmcm1 C537932|609524||filaminopathy autosomal dominant C537932|609524||filamin c related myofibrillar myopathy C537932|609524||mfm5 C537932|609524||mfm filamin c related C537932|609524||myofibrillar myopathy filamin c related C537932|609524||myopathy myofibrillar 5 C537932|609524||myopathy myofibrillar filamin c related D018200||mixed tumor mullerian D018200||mullerian mixed tumor D018200||tumor mullerian mixed C564689||camurati engelmann disease type ii C563358||pulmonary arterial hypertension hereditary hemorrhagic telangiectasia related C563358||hereditary hemorrhagic telangiectasia related pulmonary arterial hypertension 613581||retinitis pigmentosa 56 613581||maculopathy impg2 related included 613581||rp56 145700|C538389||congenital hypertrichosis lanuginosa 145700|C538389||hypertrichosis lanuginosa congenita 145700|C538389||hypertrichosis lanuginosa universalis 145700|C538389||hypertrichosis universalis 613582||retinitis pigmentosa 57 613582||rp57 D008878||middle lobe syndrome D008878||brock apos s syndrome D008878||brocks syndrome D008878||brock syndrome D008878||syndrome brock apos s D008878||syndromes middle lobe D006215||hallux valgus D006215||bunion D006215||bunions D006215||hallux abductovalgus D006215||metatarsus primus varus D006215||primus varus metatarsus D006215||varus metatarsus primus D007644|101900||darier disease D007644|101900||acantholytic dyskeratotic epidermal nevi D007644|101900||acantholytic dyskeratotic epidermal nevus D007644|101900||acrokeratosis verruciformis D007644|101900||acrokeratosis verruciformis of hopf D007644|101900||akv D007644|101900||dar D007644|101900||darier disease dd darier disease acral hemorrhagic type included D007644|101900||darier disease segmental included D007644|101900||darier apos s disease D007644|101900||dariers disease D007644|101900||darier white disease D007644|101900||darier white diseases D007644|101900||disease darier D007644|101900||disease darier apos s D007644|101900||disease darier white D007644|101900||disease hopf D007644|101900||diseases darier white D007644|101900||diseases hopf D007644|101900||hopf acrokeratosis verruciformis D007644|101900||hopf disease D007644|101900||hopf diseases D007644|101900||keratosis follicularis D007644|101900||verruciformis acrokeratosis 613587||occult macular dystrophy 613587||ocmd 613587||omd C567796|613064||dermatitis atopic 7 C567796|613064||atod7 D006212||hallucinations D006212||auditory hallucination D006212||auditory hallucinations D006212||auditory hallucinations verbal D006212||auditory hallucination verbal D006212||body sensation hallucination D006212||body sensation hallucinations D006212||dissociative hallucination D006212||dissociative hallucinations D006212||elementary hallucination D006212||elementary hallucinations D006212||gustatory hallucination D006212||gustatory hallucinations D006212||hallucination D006212||hallucination auditory D006212||hallucination dissociative D006212||hallucination elementary D006212||hallucination gustatory D006212||hallucination hypnagogic D006212||hallucination hypnapompic D006212||hallucination kinesthetic D006212||hallucination mood congruent D006212||hallucination mood incongruent D006212||hallucination of body sensation D006212||hallucination olfactory D006212||hallucination organic D006212||hallucination reflex D006212||hallucinations auditory D006212||hallucinations dissociative D006212||hallucinations elementary D006212||hallucination sensory D006212||hallucinations formed of people D006212||hallucinations gustatory D006212||hallucinations hypnagogic D006212||hallucinations hypnapompic D006212||hallucinations internal body sensation D006212||hallucinations kinesthetic D006212||hallucinations mood congruent D006212||hallucinations mood incongruent D006212||hallucinations olfactory D006212||hallucination somatic D006212||hallucinations organic D006212||hallucinations reflex D006212||hallucinations sensory D006212||hallucinations somatic D006212||hallucinations tactile D006212||hallucinations verbal auditory D006212||hallucinations visual D006212||hallucinations visual formed D006212||hallucinations visual unformed D006212||hallucination tactile D006212||hallucination verbal auditory D006212||hallucination visual D006212||hypnagogic hallucination D006212||hypnagogic hallucinations D006212||hypnapompic hallucination D006212||hypnapompic hallucinations D006212||kinesthetic hallucination D006212||kinesthetic hallucinations D006212||mood congruent hallucination D006212||mood congruent hallucinations D006212||mood incongruent hallucination D006212||mood incongruent hallucinations D006212||olfactory hallucination D006212||olfactory hallucinations D006212||organic hallucination D006212||organic hallucinations D006212||reflex hallucination D006212||reflex hallucinations D006212||sensory hallucination D006212||sensory hallucinations D006212||somatic hallucination D006212||somatic hallucinations D006212||tactile hallucination D006212||tactile hallucinations D006212||verbal auditory hallucination D006212||verbal auditory hallucinations D006212||visual hallucination D006212||visual hallucinations D008883||miliaria D008883||heat prickly D008883||miliaria rubra D008883||prickly heat D008882||mikulicz apos disease D008882||disease mikulicz D008882||disease mikulicz apos D008882||mikulicz disease D019522||vaginal discharge D019522||discharges vaginal D019522||discharge vaginal D019522||vaginal discharges C564690||noncompaction of left ventricular myocardium with congenital heart defects C564690||left ventricular noncompaction nonisolated C564690||left ventricular noncompaction with congenital heart defects C535554|605552||abdominal obesity metabolic syndrome C535554|605552||abdominal obesity metabolic syndrome 1 C535554|605552||aoms1 C535554|605552||metabolic syndrome protection against included C535554|605552||metabolic syndrome x abdominal obesity metabolic syndrome quantitative trait locus 1 included C538350|161800||nemaline myopathy 3 C538350|161800||myopathy actin congenital with cores C538350|161800||myopathy actin congenital with cores included C538350|161800||myopathy actin congenital with excess of thin myofilaments included C538350|161800||nem3 C538350|161800||nemaline myopathy 3 with intranuclear rods C538350|161800||nemaline myopathy 3 with intranuclear rods included C538350|161800||nemaline myopathy caused by mutation in the alpha actin gene C565984||short limb skeletal dysplasia with severe combined immunodeficiency C565984||achondroplasia so called and severe combined immunodeficiency C538364||mackay shek carr syndrome C538364||retinal degeneration nanophthalmos glaucoma C538364||retinal degeneration with nanophthalmos cystic macular degeneration and angle closure glaucoma C537034||long qt syndrome type 3 C537031||littoral cell angioma of the spleen C537031||littoral cell angioma C538362||reticuloendotheliosis x linked C538362||reticuloendotheliosis C564656||digital arthropathy brachydactyly familial C538369||retinoschisis of fovea C538369||familial foveal retinoschisis C538369||foveal retinoschisis C537037||lowry maclean syndrome C537037||mental retardation cleft palate eventration of diaphragm congenital heart defect glaucoma craniosynostosis and growth failure D021821||communicable diseases emerging D021821||communicable disease emerging D021821||communicable disease reemerging D021821||communicable disease re emerging D021821||communicable diseases reemerging D021821||communicable diseases re emerging D021821||disease emerging communicable D021821||disease emerging infectious D021821||disease reemerging communicable D021821||disease re emerging communicable D021821||disease reemerging infectious D021821||disease re emerging infectious D021821||diseases emerging communicable D021821||diseases emerging infectious D021821||diseases reemerging communicable D021821||diseases re emerging communicable D021821||diseases reemerging infectious D021821||diseases re emerging infectious D021821||emerging communicable disease D021821||emerging communicable diseases D021821||emerging infectious disease D021821||emerging infectious diseases D021821||infectious disease emerging D021821||infectious disease reemerging D021821||infectious disease re emerging D021821||infectious diseases emerging D021821||infectious diseases reemerging D021821||infectious diseases re emerging D021821||reemerging communicable disease D021821||re emerging communicable disease D021821||reemerging communicable diseases D021821||re emerging communicable diseases D021821||reemerging infectious disease D021821||re emerging infectious disease D021821||reemerging infectious diseases D021821||re emerging infectious diseases C564655||cardioneuromyopathy with hyaline masses and nemaline rods C537038||lowry wood syndrome C537038||epiphyseal dysplasia microcephaly and nystagmus C564654||cree mental retardation syndrome C538367||mirhosseini holmes walton syndrome C538367||retinopathy pigmentary and mental retardation C538367||retinopathy pigmentary mental retardation C537036||lopes gorlin syndrome C537036||short tarsus absence of lower eyelashes C537036||short tarsus with absence of lower eyelashes C563675|610361||orofacial cleft 9 C563675|610361||cleft lip with or without cleft palate nonsyndromic 9 C563675|610361||ofc9 D007516||adenoma islet cell D007516||adenomas islet cell D007516||island cell tumor D007516||island cell tumors D007516||islet cell adenoma D007516||islet cell adenomas D007516||islet cell tumor D007516||islet cell tumors D007516||nesidioblastoma D007516||tumor island cell D007516||tumor islet cell D007516||tumors island cell D007516||tumors islet cell D008844||micrognathism D008844||micrognathisms C564657||friedreich ataxia with retained reflexes D007511||ischemia D007511||ischemias C565988||hyperzincemia and hypercalprotectinemia C565989||xeroderma pigmentosum autosomal dominant mild C538360||restless legs syndrome 2 C538360||autosomal dominant restless legs syndrome C538360||restless legs syndrome autosomal dominant C537030||lipomyelomeningocele C537030||familial lipomyelomeningocele C537257|235550||hepatic venoocclusive disease with immunodeficiency C537257|235550||familial veno occlusive disease with immunodeficiency C537257|235550||hepatic veno occlusive disease with immunodeficiency C537257|235550||veno occlusive disease and immunodeficiency syndrome C537257|235550||vodi D008850||microphthalmos D008850||microphthalmia 226650|C562639||epidermolysis bullosa junctional non herlitz type 226650|C562639||epidermolysis bullosa generalized atrophic benign gabeb epidermolysis bullosa junctional localisata variant included 226650|C562639||epidermolysis bullosa junctionalis non herlitz type 226650|C562639||epidermolysis bullosa junctional localisata variant 226650|C562639||jeb i included 226650|C562639||junctional epidermolysis bullosa inversa included 278850||46 xx sex reversal 2 278850||46 xx sex reversal partial or complete sox9 related 278850||chromosome 17q24 duplication syndrome 278850||srxx2 C565264|606056||congenital disorder of glycosylation type iib C565264|606056||cdg2b C565264|606056||cdgiib C565264|606056||cdg iib C565264|606056||glucosidase i deficiency C538359||rds infants C537029||lipomatous hemangiopericytoma C537044||albinism minimal pigment type C537044||oculocutaneous albinism minimal pigment type C563331||aprosencephaly and cerebellar dysgenesis C537045||albright apos s hereditary osteodystrophy C537045||albright hereditary osteodystrophy C564661||abducens palsy C563330||chondrodysplasia lethal with long bone angulation and mixed bone density C564660||momes syndrome C564660||mental retardation obesity mandibular prognathism and eye and skin anomalies C537048||allanson pantzar mcleod syndrome C537048||primitive renal tubule syndrome C537048||renotubular dysgenesis D005633|229600||fructose intolerance D005633|229600||aldob deficiencies D005633|229600||aldob deficiency D005633|229600||aldolase b deficiencies D005633|229600||aldolase b deficiency D005633|229600||aldolase deficiencies fructose 1 6 biphosphate D005633|229600||aldolase deficiencies fructose 1 phosphate D005633|229600||aldolase deficiency fructose 1 6 biphosphate D005633|229600||aldolase deficiency fructose 1 phosphate D005633|229600||deficiencies aldob D005633|229600||deficiencies aldolase b D005633|229600||deficiencies fructose 1 6 biphosphate aldolase D005633|229600||deficiencies fructose 1 phosphate aldolase D005633|229600||deficiency aldob D005633|229600||deficiency aldolase b D005633|229600||deficiency fructose 1 6 biphosphate aldolase D005633|229600||deficiency fructose 1 phosphate aldolase D005633|229600||fructose 1 6 biphosphate aldolase deficiencies D005633|229600||fructose 1 6 biphosphate aldolase deficiency D005633|229600||fructose 1 6 bisphosphate aldolase b deficiency D005633|229600||fructose 1 phosphate aldolase deficiencies D005633|229600||fructose 1 phosphate aldolase deficiency D005633|229600||fructose aldolase b deficiency D005633|229600||fructose intolerance hereditary D005633|229600||fructose intolerances D005633|229600||fructose intolerances hereditary D005633|229600||fructosemia D005633|229600||fructosemias D005633|229600||hereditary fructose intolerance D005633|229600||hereditary fructose intolerances D005633|229600||intolerance fructose D005633|229600||intolerances fructose C537049||aloi tomasini isaia syndrome C537049||basal cell nevus anodontia abnormal bone mineralization C565993||vulvovaginitis allergic seminal C537046||aldred syndrome C537046||nonspecific mental retardation associated with retinitis pigmentosa C537046||x linked mental handicap retinitis pigmentosa syndrome C563333||cataract age related nuclear C563333||nuclear sclerosis of the lens C563339||sebaceous nevus syndrome and hemimegalencephaly 608631|D020817||asperger syndrome 608631|D020817||asperger disease 608631|D020817||asperger disorder 608631|D020817||asperger apos s disease 608631|D020817||asperger apos s disorder 608631|D020817||aspergers disorder 608631|D020817||asperger apos s syndrome 608631|D020817||aspergers syndrome 608631|D020817||asperger syndrome susceptibility to 1 608631|D020817||asperger syndrome susceptibility to 2 608631|D020817||asperger syndrome susceptibility to 3 608631|D020817||asperger syndrome susceptibility to 4 608631|D020817||aspg1 608631|D020817||aspg2 608631|D020817||aspg3 608631|D020817||aspg4 C564669||lipodystrophy with congenital cataracts and neurodegeneration C563338||amelia autosomal recessive 611081|C567021||inflammatory bowel disease 10 611081|C567021||ibd10 C565999||platelet receptor for collagen deficiency of C538370||retroperitoneal liposarcoma C538370||giant pelvic retroperitoneal liposarcoma C538370||pelvic retroperitoneal liposarcoma 610247|D057765||eosinophilic esophagitis 610247|D057765||chronic esophagitides eosinophilic 610247|D057765||chronic esophagitis eosinophilic 610247|D057765||eoe1 610247|D057765||eoe2 610247|D057765||eosinophilic chronic esophagitides 610247|D057765||eosinophilic chronic esophagitis 610247|D057765||eosinophilic esophagitides 610247|D057765||esophagitides eosinophilic 610247|D057765||esophagitides eosinophilic chronic 610247|D057765||esophagitis eosinophilic 610247|D057765||esophagitis eosinophilic 1 610247|D057765||esophagitis eosinophilic 2 610247|D057765||esophagitis eosinophilic chronic C536961|176410||familial testotoxicosis C536961|176410||familial gonadotrophin independent sexual precocity C536961|176410||familial male limited precocious puberty C536961|176410||gonadotrophin independent precocious puberty C536961|176410||precocious pseudopuberty C536961|176410||precocious puberty male limited C536961|176410||pubertas praecox C536961|176410||sexual precocity familial gonadotropin independent C536961|176410||testotoxicosis C536961|176410||testotoxicosis familial C536961|176410||testotoxicosis familial leydig cell adenoma somatic with male limited precocious puberty included C537309|271250||spinocerebellar ataxia autosomal recessive 3 C537309|271250||scabd C537309|271250||scar3 C537309|271250||spinocerebellar ataxia with blindness and deafness C536129|262300||achromatopsia 3 C536129|262300||achm1 formerly C536129|262300||achm3 C536129|262300||achm 3 C536129|262300||achromatopsia with myopia C536129|262300||pingelapese C536129|262300||pingelapese blindness C536129|262300||rmch1 formerly C536129|262300||rod monochromacy 1 formerly C536129|262300||rod monochromatism 1 formerly C536129|262300||total colorblindness with myopia C537039||lubani al saleh teebi syndrome C536014|200500||acheiropodia C536014|200500||acheiropody C536014|200500||acheiropody brazilian type C536014|200500||achp C536014|200500||brazilian type acheiropody C564679|606685||cardiomyopathy dilated 1l C564679|606685||cmd1l D017825|271900||canavan disease D017825|271900||acy2 deficiency D017825|271900||aminoacylase 2 deficiency D017825|271900||aspa deficiency D017825|271900||aspartoacylase deficiency D017825|271900||asp deficiency D017825|271900||canavan disease familial form D017825|271900||canavan disease infantile D017825|271900||canavan disease juvenile D017825|271900||canavan disease neonatal D017825|271900||canavan disease sporadic form D017825|271900||canavan disease type i D017825|271900||canavan disease type ii D017825|271900||canavan disease type iii D017825|271900||canavan van bogaert bertrand disease D017825|271900||deficiency disease aspartoacylase D017825|271900||disease canavan D017825|271900||disease canavan van bogaert bertrand D017825|271900||disease von bogaert bertrand D017825|271900||familial form of canavan disease D017825|271900||infantile canavan disease D017825|271900||juvenile canavan disease D017825|271900||leukodystrophy spongiform D017825|271900||neonatal canavan disease D017825|271900||spongiform leukodystrophy D017825|271900||spongy degeneration of central nervous system D017825|271900||spongy degeneration of infancy D017825|271900||spongy degeneration of the brain D017825|271900||spongy degeneration of the central nervous system D017825|271900||spongy degeneration of white matter in infancy D017825|271900||spongy disease of central nervous system D017825|271900||spongy disease of white matter D017825|271900||sporadic form of canavan disease D017825|271900||syndrome van bogaert bertrand D017825|271900||type i canavan disease D017825|271900||type ii canavan disease D017825|271900||type iii canavan disease D017825|271900||van bogaert bertrand syndrome D017825|271900||von bogaert bertrand disease D012090||cumulative trauma disorders D012090||cumulative trauma disorder D012090||disorder cumulative trauma D012090||disorder repetitive motion D012090||disorders cumulative trauma D012090||disorders repetitive motion D012090||injuries overuse D012090||injuries repetition strain D012090||injuries repetitive strain D012090||injury overuse D012090||injury repetition strain D012090||injury repetitive strain D012090||motion disorder repetitive D012090||motion disorders repetitive D012090||overuse injuries D012090||overuse injury D012090||overuse syndrome D012090||overuse syndromes D012090||repetition strain injuries D012090||repetition strain injury D012090||repetitive motion disorder D012090||repetitive motion disorders D012090||repetitive strain injuries D012090||repetitive strain injury D012090||strain injuries repetition D012090||strain injuries repetitive D012090||strain injury repetition D012090||strain injury repetitive D012090||trauma disorder cumulative D012090||trauma disorders cumulative C566339|603720||deafness autosomal recessive 16 C566339|603720||dfnb16 C565963||alpha 2 deficient collagen disease C565963||meigel disease C538386||hypertelorism and tetralogy of fallot C537056||alopecia universalis onychodystrophy vitiligo C537056||alopecia universalis onychodystrophy and total vitiligo C537053||alopecia hypogonadism extrapyramidal disorder C537053||progressive extrapyramidal disorder with primary hypogonadism and alopecia 115470|C535918||schmid fraccaro syndrome 115470|C535918||cat eye syndrome 115470|C535918||ces 115470|C535918||chromosome 22 partial tetrasomy 115470|C535918||inv dup 22 q11 C537059||flat umbilicus familial C537059||flat umbilicus autosomal dominant C537059||umbilicus familial flat C563301||peroxisome biogenesis disorder complementation group 4 C563301||peroxisome biogenesis disorder complementation group 6 C563301||peroxisome biogenesis disorder complementation group c C567358|612291||joubert syndrome 8 C567358|612291||jbts8 C565960||amino aciduria with mental deficiency dwarfism muscular dystrophy osteoporosis and acidosis C537057||alopecia epilepsy pyorrhea mental subnormality C537057||alopecia psychomotor epilepsy pyorrhea and mental subnormality C537057||congenital universal alopecia epilepsy mental subnormality and pyorrhea C537057||shokeir syndrome 225000|C563117||rosselli gulienetti syndrome C562515|308050||congenital hemidysplasia with ichthyosiform erythroderma and limb defects C562515|308050||child syndrome C562515|308050||ichthyosiform erythroderma unilateral with ipsilateral malformations especially absence deformity of limbs C564631||parkinson disease 8 C537058||fitzsimmons mclachlan gilbert syndrome C537058||mental retardation with spastic paraplegia and palmoplantar hyperkeratosis C564638||hyperreninemic hypoaldosteronism familial 2 C563305||agammaglobulinemia non bruton type autosomal dominant C537051||alopecia contractures dwarfism mental retardation C537051||acd mental retardation syndrome C537051||alopecia contractures dwarfism mental retardation syndrome C538382|264070||hyperphenylalaninemia with primapterinuria C538382|264070||cadh deficiency C538382|264070||hpabh4d C538382|264070||hyperphenylalaninemia bh4 deficient d C538382|264070||hyperphenylalaninemia tetrahydrobiopterin deficient due to pterin 4 alpha carbinolamine dehydratase deficiency C538382|264070||pcbd deficiency C537052||alopecia epilepsy oligophrenia syndrome of moynahan C537052||moynahan alopecia syndrome C565968||alaninuria with microcephaly dwarfism enamel hypoplasia and diabetes mellitus C565968||stimmler syndrome C537050||alopecia congenita keratosis palmoplantaris C537050||alopecia congenita with hyperkeratosis of the palms and soles C537050||alopecia congenita with keratosis palmoplantaris C564858|266200||pyruvate kinase deficiency of red cells C564858|266200||pk deficiency C564858|266200||pyruvate kinase deficiency C564858|266200||pyruvate kinase deficiency of erythrocyte D012088||reoviridae infections D012088||infection reoviridae D012088||infection reovirus D012088||infections reoviridae D012088||infections reovirus D012088||reoviridae infection D012088||reovirus infection D012088||reovirus infections 145981|C537146||hypocalciuric hypercalcemia familial type 2 145981|C537146||familial benign hypercalcemia type 2 145981|C537146||familial benign hypercalcemia type ii 145981|C537146||fbh2 145981|C537146||hhc2 145981|C537146||hypercalcemia familial benign type 2 145981|C537146||hypercalcemia familial benign type ii 145981|C537146||hypocalciuric hypercalcemia familial type ii 130070|C536201||ehlers danlos syndrome progeroid form 130070|C536201||dermatan sulfate proteoglycan 130070|C536201||edsp1 130070|C536201||ehlers danlos syndrome progeroid type 1 130070|C536201||galactosyltransferase 1 deficiency 130070|C536201||galactosyltransferase i deficiency 130070|C536201||pds defective biosynthesis of 130070|C536201||progeroid variant of ehlers danlos syndrome 130070|C536201||proteodermatan sulfate defective biosynthesis of 130070|C536201||xgpt deficiency 130070|C536201||xylosylprotein 4 beta galactosyltransferase deficiency C564641||pulmonary disease chronic obstructive severe early onset C565973||adrenocortical carcinoma pediatric C535544|147750||oculootoradial syndrome C535544|147750||instituto venezolano de investigaciones cientificas syndrome C535544|147750||ivic syndrome C535544|147750||oors C535544|147750||radial ray defects hearing impairment external ophthalmoplegia and thrombocytopenia C537066||flynn aird syndrome C538396||lambert syndrome C538396||branchial dysplasia clubfoot inguinal hernia and biliary atresia C537064||florid cystic endosalpingiosis of the uterus C537064||cystic endosalpingiosis of the uterus C565976||adrenal hypoplasia congenital with absent pituitary luteinizing hormone C537065||flotch syndrome C537065||friedel heid grosshans syndrome C564645||albinism oculocutaneous type i temperature sensitive C564645||oca1ts 108010|D002538||intracranial arteriovenous malformations 108010|D002538||arteriovenous malformation cerebral 108010|D002538||arteriovenous malformation intracranial 108010|D002538||arteriovenous malformations cerebral 108010|D002538||arteriovenous malformations intracranial 108010|D002538||arteriovenous malformations of the brain 108010|D002538||avm arteriovenous malformation intracranial 108010|D002538||bavm 108010|D002538||cerebral arteriovenous malformation 108010|D002538||cerebral arteriovenous malformations 108010|D002538||cerebral arteriovenous malformations intracranial hemorrhage in brain arteriovenous malformations susceptibility to included 108010|D002538||congenital intracranial arteriovenous malformations 108010|D002538||intracranial arteriovenous malformation 108010|D002538||intracranial arteriovenous malformation ruptured 108010|D002538||intracranial arteriovenous malformations congenital 108010|D002538||malformation cerebral arteriovenous 108010|D002538||malformation intracranial arteriovenous 108010|D002538||malformations cerebral arteriovenous 108010|D002538||malformations intracranial arteriovenous 108010|D002538||ruptured intracranial arteriovenous malformation C565970||hypodysfibrinogenemia congenital C565971||adrenocortical unresponsiveness to acth with postreceptor defect C565971||familial glucocorticoid deficiency due to defect distal to acth receptor C537068||focal facial dermal dysplasia C537068||bitemporal aplasia cutis congenita C537068||brauer syndrome C537068||ffdd type 1 C537068||hereditary symmetrical aplastic nevi of temples C540694||thrombophilia hereditary C567520|611804||elliptocytosis 1 C567520|611804||4 1 minus trait C567520|611804||4 1 trait C567520|611804||el1 C567520|611804||elliptocytosis rhesus linked type C567520|611804||protein 4 1 of erythrocyte membrane defect of C538399||nemo mutation with immunodeficiency C538399||nf kappa b essential modulator nemo mutation with immunodeficiency C537069||foix chavany marie syndrome C537069||congenital foix chavany marie syndrome C566196|113000||brachydactyly type b1 C566196|113000||bdb C566196|113000||bdb1 C566196|113000||brachydactyly type b C538390||hypertrichosis anterior cervical C538390||anterior cervical hypertrichosis C538390||hairy throat C538390||hairy throat syndrome C564648||vascular malformation primary intraosseous C564648||hemangioma intraosseous C564648||vascular malformation osseous C563316||deafness progressive with stapes fixation C535602|126600||doyne honeycomb retinal dystrophy C535602|126600||dhrd C535602|126600||doyne honeycomb degeneration of retina C535602|126600||doyne honeycomb degeneration of retina dhd malattia leventinese included C535602|126600||drusen radial autosomal dominant included C535602|126600||malattia leventinese C535602|126600||mlvt included D007500||iritis D007500||iritides C565977||hyperandrogenism nonclassic type due to 21 hydroxylase deficiency C538394||hdl deficiency type 2 C538394||low serum hdl cholesterol C538394||primary hypoalphalipoproteinemia C537062||floating harbor syndrome C537062||leisti hollander rimoin syndrome C537062||pelletier leisti syndrome D008831||microcephaly D008831||microcephalies D008831||microlissencephalies D008831||microlissencephaly C538393||hypertryptophanemia C537063||florid cemento osseous dysplasia 250250|C535916||cartilage hair hypoplasia 250250|C535916||cartilage hair syndrome 250250|C535916||chh 250250|C535916||mckusick metaphyseal chondrodysplasia syndrome 250250|C535916||metaphyseal chondrodysplasia mckusick type 250250|C535916||metaphyseal chondrodysplasia recessive type C563319|601419||myopathy myofibrillar desmin related C563319|601419||desminopathy primary C563319|601419||desmin related myopathy C563319||myopathy desmin related C538391||hypertrichosis hyperkeratosis mental retardation and distinctive facial features C537061||flavimonas oryzihabitans bacteremia C536183|604536||ectodermal dysplasia skin fragility syndrome C536183|604536||mcgrath syndrome C566493|609975||hyperinsulinemic hypoglycemia familial 4 C566493|609975||hhf4 D005175|234000||factor xii deficiency D005175|234000||coagulation factor 12 deficiency D005175|234000||deficiencies factor 12 D005175|234000||deficiencies factor xii D005175|234000||deficiency factor 12 D005175|234000||deficiency factor xii D005175|234000||deficiency hageman factor D005175|234000||f12 deficiency D005175|234000||factor 12 deficiencies D005175|234000||factor 12 deficiency D005175|234000||factor deficiency hageman D005175|234000||factor xii deficiencies D005175|234000||haf deficiency D005175|234000||hageman factor deficiency D005175|234000||hageman trait C565940||arthrogryposis distal with mental retardation and characteristic facies C538321||histidinuria renal tubular defect C538321||histidinuria due to a renal tubular defect C538321||renal histidinuria C565941||arteriosclerosis severe juvenile C536611|132700||familial cylindromatosis C536611|132700||ancell spiegler cylindromas C536611|132700||brooke spiegler syndrome C536611|132700||brss C536611|132700||cylindromas dermal eccrine C536611|132700||cylindromatosis familial C536611|132700||dermal eccrine cylindroma C536611|132700||familial trichoepithelioma C536611|132700|153640|C535507||sbs C536611|132700||spiegler brooke syndrome C536611|132700||turban tumors C536611|132700||turban tumor syndrome C536611|132700||apos turban tumor apos syndrome C538325||ho kaufman mcalister syndrome C564611||multiple congenital anomalies syndrome with cloverleaf skull C564509|300472||corpus callosum agenesis of with mental retardation ocular coloboma and micrognathia C564509|300472||mental retardation x linked syndromic 28 C564509|300472||mrxs28 C538323||hittner hirsch kreh syndrome 311050|C537125||optic atrophy 2 311050||opa2 311050|C537125||optic atrophy non leber type with early onset 311050|C537125||optic atrophy x linked C565949||optic nerve hypoplasia and abnormalities of the central nervous system C563720|609439||deafness autosomal recessive 48 C563720|609439||dfnb48 C565944||coronary sclerosis medial of infancy C564619||cataract sutural with punctate and cerulean opacities C565945||aplasia of extensor muscles of fingers unilateral with generalized polyneuropathy C565947||antithrombin familial hemorrhagic diathesis due to C563336|601363||wilms tumor 4 C563336|601363||familial wilms tumor 1 C563336|601363||fwt1 C563336|601363||wt4 C536258|608782||pyruvate dehydrogenase phosphatase deficiency C536258|608782||lactic acidemia with pyruvate dehydrogenase phosphatase deficiency C536258|608782||pdhpd C538318||chromosome 2 trisomy 2p C538318||duplication 2p C538318||trisomy 2p D001260|208900||ataxia telangiectasia D001260|208900||at D001260|208900||at1 D001260|208900||ata included D001260|208900||ataxia telangiectasia syndrome D001260|208900||ataxia telangiectasia variant included D001260|208900||atc included D001260|208900||at complementation group c included D001260|208900||at complementation group d included D001260|208900||at complementation group e included D001260|208900||atd included D001260|208900||ate included D001260|208900||louis bar syndrome D001260|208900||louis bar syndrome at complementation group a included D001260|208900||syndrome ataxia telangiectasia D001260|208900||syndrome louis bar D001260|208900||telangiectasia cerebello oculocutaneous C538317||chromosome 2q37 deletion syndrome C538317||2q37 deletion syndrome C538317||albright hereditary osteodystrophy like syndrome C538317||chromosome 2 monosomy 2q37 C538317||deletion 2q37 C538317||monosomy 2q37 C538316||chromosome 2 monosomy 2q24 C538316||deletion 2q24 C538316||monosomy 2q24 C537495|300434||stocco dos santos syndrome C537495|300434||mental retardation stocco dos santos type C537495|300434||mental retardation x linked stocco dos santos type C537495|300434||sdsx C537495|300434||stocco dos santos x linked mental retardation syndrome C538315||chromosome 2 monosomy 2q C538315||deletion 2q C538315||monosomy 2q 605462|D002280||carcinoma basal cell 605462|D002280||basal cell carcinoma 605462|D002280||basal cell carcinoma multiple included 605462|D002280||basal cell carcinoma nonsyndromic included 605462|D002280||basal cell carcinomas 605462|D002280||basal cell carcinoma susceptibility to 1 605462|D002280||basal cell carcinoma susceptibility to 2 605462|D002280||basal cell carcinoma susceptibility to 3 605462|D002280||basal cell carcinoma susceptibility to 4 605462|D002280||basal cell carcinoma susceptibility to 5 605462|D002280||basal cell carcinoma susceptibility to 6 605462|D002280||basal cell epithelioma 605462|D002280||basal cell epitheliomas 605462|D002280||bcc1 605462|D002280||bcc2 605462|D002280||bcc3 605462|D002280||bcc4 605462|D002280||bcc5 605462|D002280||bcc6 605462|D002280||carcinoma basal cell pigmented 605462|D002280||carcinomas basal cell 605462|D002280||epithelioma basal cell 605462|D002280||epitheliomas basal cell 605462|D002280||rodent ulcer 605462|D002280||rodent ulcers 605462|D002280||ulcer rodent 605462|D002280||ulcers rodent C538319||hirschsprung disease type d brachydactyly C538319||familial hirschsprung apos s disease and type d brachydactyly C538319||hirschsprung disease with type d brachydactyly C565951||angiolipomatosis familial C565951||angiolipoma microthromboticum C538332||naguib richieri costa syndrome C538332||acrofrontofacionasal dysostosis 2 C538332||acrofrontofacionasal dysostosis severe C538332||acrofrontofacionasal dysostosis with genitourinary anomalies C538332||hypertelorism hypospadias and polysyndactyly syndrome C538332||hypertelorism hypospadias polysyndactyly syndrome C538332||naguib syndrome C537000||ledderhose disease C565952||anemia nonspherocytic hemolytic possibly due to defect in porphyrin metabolism C537001||left sided gallbladder C537001||gallbladder left sided D012080||renal osteodystrophy D012080||osteodystrophies renal D012080||osteodystrophy renal D012080||renal osteodystrophies D012080||renal rickets D012080||rickets renal C565953||anemia nonspherocytic hemolytic associated with abnormality of red cell membrane C538330||inclusion body myopathy autosomal dominant C538330||inclusion body myopathy 3 C565954||anemia sideroblastic pyridoxine responsive autosomal recessive C565954||anemia congenital sideroblastic b6 responsive C538335||nakamura osame syndrome C538335||spastic paraplegia mental retardation and thin corpus callosum C538334||nakajo syndrome C538334||nodular erythema digital changes C538334||nodular erythema with digital changes C564620||laryngeal atresia encephalocele and limb deformities C537003||leichtman wood rohn syndrome C537003||anophthalmia cleft lip palate facial anomalies and cns anomalies and hypothalamic disorder C565959||amobarbital deficient n hydroxylation of C564625||congenital disorder of glycosylation type iiid C565955||amyotrophic lateral sclerosis with polyglucosan bodies C565956||amyotrophic lateral sclerosis juvenile with dementia C565956||als dementia complex C536485|276900||usher syndrome type 1b C536485|276900||retinitis pigmentosa and congenital deafness usher syndrome type ib included C536485|276900||us1 C536485|276900||ush1 C536485|276900||ush1b included C536485|276900||usher syndrome type ia formerly included ush1a formerly included C536485|276900||usher syndrome type i french variety formerly included C565958||amyloidosis of gingiva and conjunctiva with mental retardation C565152|611489||corticosteroid binding globulin deficiency C565152|611489||cbg deficiency C565152|611489||transcortin deficiency C565152|611489||transcortin deficiency corticosteroid binding globulin elevated included C538328||holoprosencephaly recurrent infections and monocytosis D012075||remission spontaneous D012075||remissions spontaneous D012075||spontaneous remission D012075||spontaneous remissions D012078||renal artery obstruction D012078||obstruction renal artery D012078||obstructions renal artery D012078||renal artery obstructions D012078||renal artery stenoses D012078||renal artery stenosis D012078||stenoses renal artery D012078||stenosis renal artery C538343||native american myopathy C538343||congenital myopathy cleft palate and malignant hyperthermia C538343||myopathy congenital with cleft palate and malignant hyperthermia C537011||kasznica carlson coppedge syndrome C537011||ectrodactyly spina bifida cardiopathy C538342||nathalie syndrome C537012||katsantoni papadakou lagoyanni syndrome C537012||trichodermal syndrome and mental retardation C565920||bardet biedl syndrome 11 C538341||intestinal pseudoobstruction with patent ductus arteriosus and natal teeth C538341||natal teeth intestinal pseudoobstruction and patent ductus C565921||bardet biedl syndrome 12 C538340||nasopharyngeal teratoma with dandy walker diaphragmatic hernia C538340||aughton sloan milad syndrome C537010||kashani strom utley syndrome C537010||hypoplastic pulmonary arteries and aorta with obstructive uropathy C537010||pulmonary aortic stenosis obstructive uropathy 607736|C535417||charcot marie tooth disease type 2j 607736|C535417||charcot marie tooth disease axonal type 2j 607736|C535417||charcot marie tooth disease type 2 with hearing loss and pupillary abnormalities 607736|C535417||charcot marie tooth neuropathy type 2j 607736|C535417||cmt2j 607736|C535417||cmt 2j C538347||negative rheumatoid factor polyarthritis C538347||rf ve cp C538347||rheumatoid factor negative erosive chronic polyarthritis C538347||rheumatoid factor negative polyarthritis C537015||kbg syndrome C537015||short stature characteristic facies macrodontia mental retardation and skeletal anomalies C567699|608030||amyotrophic lateral sclerosis 6 autosomal recessive C567699|608030||als6 C567699|608030||amyotrophic lateral sclerosis 6 autosomal recessive included C567699|608030||amyotrophic lateral sclerosis 6 with or without frontotemporal dementia C538345||navajo poikiloderma C538345||navajo immune deficient poikiloderma C537013||kaufman oculocerebrofacial syndrome C538344||mitochondrial dna depletion syndrome 6 C538344||mpv17 associated hepatocerebral mds C538344||mpv17 related hepatocerebral mitochondrial dna depletion syndrome C538344||navajo familial neurogenic arthropathy C538344||navajo neuropathy C565926||atonic astatic syndrome of foerster C565927||athrombia essential C565928||atherosclerosis premature with deafness nephropathy diabetes mellitus photomyoclonus and degenerative neurologic disease C565707|610193||arrhythmogenic right ventricular dysplasia familial 10 C565707|610193||arrhythmogenic right ventricular cardiomyopathy 10 C565707|610193||arvc10 C565707|610193||arvd10 C535845|140350||hawkinsinuria C535845|140350||4 alpha hydroxyphenylpyruvate hydroxylase deficiency C565923||aural atresia multiple congenital anomalies and mental retardation D063726||delusional parasitosis D063726||delusional parasitoses D063726||delusional parasitoses ekbom D063726||delusional parasitosis ekbom D063726||delusion dermatozoic D063726||delusion ekbom dermatozoic D063726||delusions dermatozoic D063726||delusions ekbom dermatozoic D063726||delusory parasitoses D063726||delusory parasitoses ekbom D063726||delusory parasitosis D063726||delusory parasitosis ekbom D063726||dermatozoic delusion D063726||dermatozoic delusion ekbom D063726||dermatozoic delusions D063726||dermatozoic delusions ekbom D063726||ekbom delusional parasitoses D063726||ekbom delusional parasitosis D063726||ekbom delusory parasitoses D063726||ekbom delusory parasitosis D063726||ekbom dermatozoic delusion D063726||ekbom dermatozoic delusions D063726||ekbom psychogenic parasitoses D063726||ekbom psychogenic parasitosis D063726||parasitoses delusional D063726||parasitoses delusory D063726||parasitoses ekbom delusional D063726||parasitoses ekbom delusory D063726||parasitoses ekbom psychogenic D063726||parasitoses psychogenic D063726||parasitosis delusional D063726||parasitosis delusory D063726||parasitosis ekbom delusional D063726||parasitosis ekbom delusory D063726||parasitosis ekbom psychogenic D063726||parasitosis psychogenic D063726||psychogenic parasitoses D063726||psychogenic parasitoses ekbom D063726||psychogenic parasitosis D063726||psychogenic parasitosis ekbom 114500|D015179||colorectal neoplasms 114500|D015179||cancer colorectal 114500|D015179||cancers colorectal 114500|D015179||carcinoma colorectal 114500|D015179||carcinomas colorectal 114500|D015179||colorectal adenoma and cancer susceptibility to 114500|D015179||colorectal cancer 114500|D015179||colorectal cancers 114500|D015179||colorectal cancer susceptibility to 1 114500|D015179||colorectal cancer susceptibility to 10 114500|D015179||colorectal cancer susceptibility to 11 114500|D015179||colorectal cancer susceptibility to 2 114500|D015179||colorectal cancer susceptibility to 3 114500|D015179||colorectal cancer susceptibility to 5 114500|D015179||colorectal cancer susceptibility to 6 114500|D015179||colorectal cancer susceptibility to 7 114500|D015179||colorectal cancer susceptibility to 8 114500|D015179||colorectal cancer susceptibility to 9 114500|D015179||colorectal cancer susceptibility to on chromosome 10 114500|D015179||colorectal cancer susceptibility to on chromosome 11 114500|D015179||colorectal cancer susceptibility to on chromosome 14q 114500|D015179||colorectal cancer susceptibility to on chromosome 16q 114500|D015179||colorectal cancer susceptibility to on chromosome 18 114500|D015179||colorectal cancer susceptibility to on chromosome 19q 114500|D015179||colorectal cancer susceptibility to on chromosome 20p 114500|D015179||colorectal cancer susceptibility to on chromosome 8q23 114500|D015179||colorectal cancer susceptibility to on chromosome 8q24 114500|D015179||colorectal cancer susceptibility to on chromosome 9 114500|D015179||colorectal carcinoma 114500|D015179||colorectal carcinomas 114500|D015179||colorectal neoplasm 114500|D015179||colorectal tumor 114500|D015179||colorectal tumors 114500|D015179||crc 114500|D015179||crcs1 114500|D015179||crcs10 114500|D015179||crcs11 114500|D015179||crcs2 114500|D015179||crcs3 114500|D015179||crcs5 114500|D015179||crcs6 114500|D015179||crcs7 114500|D015179||crcs8 114500|D015179||crcs9 114500|D015179||neoplasm colorectal 114500|D015179||neoplasms colorectal 114500|D015179||tumor colorectal 114500|D015179||tumors colorectal C567708|613205||muscular dystrophy congenital lmna related C567708|613205||mdcl C537008||kapur toriello syndrome C537008||cleft lip palate facial eye heart and intestinal anomalies C537008||long columella with cleft lip palate and eye heart and intestinal anomalies C538155|186300||syndactyly type v C538155|186300||syndactyly type 5 C538155|186300||syndactyly with metacarpal and metatarsal fusion C537009||karandikar maria kamble syndrome C537009||cataract mental retardation anal atresia urinary defects C537009||congenital cataract with multiple congenital anomalies in a sibship D013375||substance withdrawal syndrome D013375||drug withdrawal symptom D013375||drug withdrawal symptoms D013375||substance withdrawal syndromes D013375||symptom drug withdrawal D013375||symptoms drug withdrawal D013375||symptoms withdrawal D013375||symptom withdrawal D013375||syndromes substance withdrawal D013375||syndrome substance withdrawal D013375||withdrawal symptom D013375||withdrawal symptom drug D013375||withdrawal symptoms D013375||withdrawal symptoms drug D013375||withdrawal syndromes substance D013375||withdrawal syndrome substance 235700||hemolytic anemia nonspherocytic due to hexokinase deficiency C538338||nasopalpebral lipoma coloboma syndrome C538338||palpebral coloboma lipoma syndrome C537006||leiomyoma of vulva and esophagus C537006||esophagogastric and vulvar leiomyomatosis C537006||leiomyomatosis esophagogastric and vulvar C535935|602347||cholestasis progressive familial intrahepatic 3 C535935|602347||abcb4 related intrahepatic cholestasis C535935|602347||cholestasis progressive familial intrahepatic with elevated serum gamma glutamyltransferase C535935|602347||low gamma gt familial intrahepatic cholestasis C535935|602347||mdr3 deficiency C535935|602347||pfic3 C535935|602347||progressive familial intrahepatic cholestasis 3 pfic 3 C535935|602347||progressive familial intrahepatic cholestasis 3 pfic3 C535935|602347||progressive familial intrahepatic cholestasis with elevated serum gamma glutamyltransferase C538337||nasodigitoacoustic syndrome C538337||keipert syndrome C537007||kaposiform hemangioendothelioma C537007||congenital cutaneous multifocal kaposiform hemangioendothelioma C537007||kaposiform hemangio endothelioma C562876|212070||carboxypeptidase n deficiency C538354||potato nose C538354||nose anomalous shape of C565930||ataxia telangiectasia with generalized skin pigmentation and early death C537023||koone rizzo elias syndrome C537023||ichthyosis mental retardation and asymptomatic spasticity C537622|612736||guanidinoacetate methyltransferase deficiency C537622|612736||ccds2 C537622|612736||cerebral creatine deficiency syndrome 2 C537622|612736||creatine deficiency syndrome due to gamt deficiency C537622|612736||gamt deficiency C538352||pellagra like syndrome C538352||pellagra like rash with neurologic manifestations C537020||kenny caffey syndrome C537020||dwarfism cortical thickening of tubular bones and transient hypocalcemia C537020||kenny caffey syndrome type 2 C537020||kenny syndrome C565932||ataxia deafness and cardiomyopathy C538358||powell venencie gordon syndrome C538358||keratoderma and spastic paralysis C538358||punctate keratoderma and spastic paralysis C537026||lipodermatosclerosis C537026||acute lipodermatosclerosis D012061||relapsing fever D012061||fever relapsing D012061||fevers relapsing D012061||relapsing fevers C538357||powell chandra saal syndrome C538357||phaver syndrome C538357||vertebral radial congenital heart and ear defects C537024||kosztolanyi syndrome C537024||arachnodactyly abnormal ossification and mental retardation C537024||syndrome of arachnodactyly disturbance of cranial ossification protruding eyes feeding difficulties and mental retardation C537025||kotzot richter syndrome C537025||albinism with immune and hematologic defects C537025||oculocutaneous albinism immunodeficiency hematological disorders and minor anomalies C563515|162820||neutrophil chemotactic response C563515|162820||ncr C563515|162820||neutrophil migration C536238|303700||blue cone monochromatism C536238|303700||bcm C536238|303700||blue cone monochromacy C536238|303700||cod5 included C536238|303700||color blindness blue mono cone monochromatic type C536238|303700||colorblindness blue mono cone monochromatic type C536238|303700||colorblindness blue mono cone monochromatic type cbbm cone dystrophy 5 x linked included C564609||deafness autosomal recessive C565933||ataxia with myoclonic epilepsy and presenile dementia 277460|C535393||ataxia with vitamin e deficiency 277460|C535393||ataxia friedreich like with selective vitamin e deficiency 277460|C535393||ataxia with isolated vitamin e deficiency 277460|C535393||aved 277460|C535393||familial isolated deficiency of vitamin e 277460|C535393||familial isolated vitamin e deficiency 277460|C535393||friedreich ataxia phenotype with selective vitamin e deficiency 277460|C535393||friedreich like ataxia 277460|C535393||friedreich like ataxia with selective vitamin e deficiency 277460|C535393||ved 277460|C535393||vitamin e familial isolated deficiency of C565934||asthma short stature and elevated iga C564607||epilepsy intractable childhood with generalized tonic clonic seizures C564607||icegtc C564606||anonychia total with microcephaly 248200|C535804||stargardt disease 1 248200|C535804||ffm included 248200|C535804||fundus flavimaculatus 248200|C535804||juvenile macular degeneration 248200|C535804||macular degeneration juvenile 248200|C535804||macular dystrophy with flecks type 1 248200|C535804||macular dystrophy with flecks type 1 fundus flavimaculatus included 248200|C535804||retinal dystrophy early onset severe included 248200|C535804||stgd 248200|C535804||stgd1 260920|D054078||mevalonate kinase deficiency 260920|D054078||aciduria mevalonic 260920|D054078||hids 260920|D054078||hyper igd syndrome 260920|D054078||hyper igd syndromes 260920|D054078||hyperimmunoglobulinemia d 260920|D054078||hyperimmunoglobulinemia d and periodic fever syndrome 260920|D054078||kinase deficiencies mevalonate 260920|D054078||kinase deficiency mevalonate 260920|D054078||meva 260920|D054078||mevalonate kinase deficiencies 260920|D054078||mevalonicaciduria 260920|D054078||mevalonic aciduria 260920|D054078||mevalonicacidurias 260920|D054078||periodic fever dutch type 260920|D054078||syndrome hyper igd 606788|D000856||anorexia nervosa 606788|D000856||anon1 606788|D000856||anorexia nervosas 606788|D000856||anorexia nervosa susceptibility to 1 606788|D000856||nervosa anorexia 606788|D000856||nervosas anorexia C537019||kennerknecht vogel syndrome C537019||agonadism mental retardation delayed bone age C537018||kennerknecht sorgo oberhoffer syndrome C537018||agonadism dextrocardia diaphragmatic hernia C537018||agonadism with multiple internal malformations C537018||pagod syndrome C535344|610623||cataract posterior polar 4 C535344|610623||cataract 11 multiple types C535344|610623||cataract posterior polar 4 with microphthalmia and neurodevelopmental abnormalities C535344|610623||cpp4 cataract 11 with microphthalmia and neurodevelopmental abnormalities included C535344|610623||ctpp4 C535344|610623||ctrct11 C535344|610623||posterior polar cataract 4 D000169||acrodermatitis D000169||acrodermatitides D000169||acrodermatitis papulosa infantum D000169||acrodermatitis papulosa infantums D000169||acropapulo vesicular syndrome D000169||acropapulo vesicular syndromes D000169||childhood papular acrodermatitides D000169||childhood papular acrodermatitis D000169||erythemato vesiculo papulous eruptive syndrome D000169||erythemato vesiculo papulous eruptive syndromes D000169||gianotti crosti syndrome D000169||infantile papular acrodermatitides D000169||infantile papular acrodermatitis D000169||papular acrodermatitides infantile D000169||papular acrodermatitis infantile D000169||papular acrodermatitis of childhood D000169||papulovesicular acrolocated syndrome D000169||papulovesicular acrolocated syndromes D000169||syndrome acropapulo vesicular D000169||syndrome erythemato vesiculo papulous eruptive D000169||syndrome gianotti crosti D000169||syndromes acropapulo vesicular D000169||syndromes erythemato vesiculo papulous eruptive D000169||syndromes papulovesicular acrolocated C538402||aspartylglucosamidase aga deficiency C567747|613112||macrothrombocytopenia autosomal dominant tubb1 related C538401||arthrogryposis multiplex congenita whistling face C538401||arthrogryposis multiplex congenita with whistling face C538401||illium syndrome C538401||illum syndrome C538401||lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system D000163||acquired immunodeficiency syndrome D000163||acquired immune deficiency syndrome D000163||acquired immuno deficiency syndrome D000163||acquired immunodeficiency syndromes D000163||acquired immuno deficiency syndromes D000163||aids D000163||immunodeficiency syndrome acquired D000163||immuno deficiency syndrome acquired D000163||immunodeficiency syndromes acquired D000163||immuno deficiency syndromes acquired D000163||immunologic deficiency syndrome acquired D000163||syndrome acquired immunodeficiency D000163||syndrome acquired immuno deficiency D000163||syndromes acquired immunodeficiency D000163||syndromes acquired immuno deficiency C536750|278250||wrinkly skin syndrome C536750|278250||wss D013479||superior vena cava syndrome D013479||superior vena cava obstruction D013479||superior vena cava thrombosis D000170||acrodynia D000170||acrodynic erythema D000170||childhood mercurialism chronic D000170||childhood mercurialisms chronic D000170||chronic childhood mercurialism D000170||chronic childhood mercurialisms D000170||erythema acrodynic D000170||feer disease D000170||feer apos s disease D000170||feers disease D000170||mercurialism chronic childhood D000170||pink disease D000170||swift disease D000170||swift apos s disease D000170||swifts disease D012142||respiratory tract neoplasms D012142||neoplasm respiratory tract D012142||neoplasms respiratory tract D012142||respiratory tract neoplasm D012142||tract neoplasm respiratory D012142||tract neoplasms respiratory D020167|238700||hyperlysinemias D020167|238700||alpha aminoadipic semialdehyde deficiency disease D020167|238700||deficiencies l lysine nad oxido reductase D020167|238700||deficiencies lysine alpha ketoglutarate reductase D020167|238700||deficiency disease alpha aminoadipic semialdehyde D020167|238700||deficiency disease lysine alpha ketoglutarate reductase D020167|238700||deficiency disease saccharopine dehydrogenase D020167|238700||deficiency l lysine nad oxido reductase D020167|238700||deficiency lysine alpha ketoglutarate reductase D020167|238700||familial hyperlysinemia D020167|238700||familial hyperlysinemias D020167|238700||hyperammonemia hyperlysinuria with D020167|238700||hyperammonemias hyperlysinuria with D020167|238700||hyperlysinemia D020167|238700||hyperlysinemia familial D020167|238700||hyperlysinemia periodic D020167|238700||hyperlysinemias familial D020167|238700||hyperlysinemias periodic D020167|238700||hyperlysinemia type i D020167|238700||hyperlysinuria with hyperammonemia D020167|238700||hyperlysinuria with hyperammonemias D020167|238700||l lysine nad oxido reductase deficiencies D020167|238700||l lysine nad oxido reductase deficiency D020167|238700||lysine alpha ketoglutarate reductase deficiencies D020167|238700||lysine alpha ketoglutarate reductase deficiency D020167|238700||lysine alpha ketoglutarate reductase deficiency disease D020167|238700|C563201||lysine intolerance D020167|238700||periodic hyperlysinemia D020167|238700||periodic hyperlysinemias D020167|238700||reductase deficiencies lysine alpha ketoglutarate D020167|238700||reductase deficiency lysine alpha ketoglutarate D020167|238700||saccharopine dehydrogenase deficiency disease D020167|238700||with hyperammonemia hyperlysinuria D020167|238700||with hyperammonemias hyperlysinuria D013474||sunstroke D013474||sun stroke D013474||sunstrokes D013474||sun strokes C564559|300228||testicular germ cell tumor 1 C564559|300228||tgct1 D012140||respiratory tract diseases D012140||disease respiratory tract D012140||diseases respiratory tract D012140||respiratory tract disease D012140||tract disease respiratory D012140||tract diseases respiratory D013471||sunburn D013471||sunburns 211750||c syndrome D012141||respiratory tract infections D012141||infection respiratory tract D012141||infections respiratory D012141||infections respiratory tract D012141||infections upper respiratory D012141||infections upper respiratory tract D012141||respiratory infections D012141||respiratory infection upper D012141||respiratory tract infection D012141||upper respiratory infections D012141||upper respiratory tract infections 112600|C537089||brachydactyly type a2 112600|C537089||bda2 112600|C537089||brachymesophalangy 2 112600|C537089||brachymesophalangy ii 112600|C537089||mohr wriedt type brachydactyly D013478||superior mesenteric artery syndrome D013478||cast syndrome D013478||duodenal compression syndrome mesenteric D013478||mesenteric duodenal compression syndrome D013478||syndrome cast D013478||syndrome wilkie D013478||wilkie syndrome C564700||craniosynostosis syndrome autosomal recessive D013492||suppuration D013492||pus C564704||charcot marie tooth neuropathy dominant intermediate b with neutropenia D000172||acromegaly D000172||hypersecretion syndrome somatotropin acromegaly D000172||hypersecretion syndromes somatotropin acromegaly D000172||inappropriate gh secretion syndrome acromegaly D000172||inappropriate growth hormone secretion syndrome acromegaly D000172||somatotropin hypersecretion syndrome acromegaly D000172||somatotropin hypersecretion syndromes acromegaly D000172||syndrome somatotropin hypersecretion acromegaly D000172||syndromes somatotropin hypersecretion acromegaly C535982|604498||congenital amegakaryocytic thrombocytopenia C535982|604498||amegakaryocytic thrombocytopenia congenital C535982|604498||camt C564707||persistent polyclonal b cell lymphocytosis D049328||mongolian spot D049328||blue spot mongolian D049328||mongolian blue spot D049328||spot mongolian C567478|300703||spinocerebellar ataxia x linked 5 C567478|300703||scax5 128700|C563015||preauricular fistulae congenital 128700|C563015||ear pits 128700|C563015||pafc C536108|310465||n syndrome C536108|310465||nsx D000182||acth syndrome ectopic D000182||acth syndromes ectopic D000182||ectopic acth syndrome D000182||ectopic acth syndromes D000182||syndrome ectopic acth D000182||syndromes ectopic acth C567404|612164||epileptic encephalopathy early infantile 4 C567404|612164||eiee4 C538406||canaliculitis C538406||keratoactinomycosis C538405||dichuchwa C538405||frenga C538405||njovera C538405||nonvenereal syphilis 300496||autism susceptibility to x linked 3 300496||autsx3 300497||asperger syndrome x linked susceptibility to 2 300497||aspgx2 300494||asperger syndrome x linked susceptibility to 1 300494||aspgx1 D051642||histiocytoma D051642||histiocytomas 300495||autism susceptibility to x linked 2 300495||autsx2 300495||mental retardation x linked included C538407||acute rheumatism C538420||black hairy tongue C538420||black tongue C538420||lingua nigra C538420||lingua villosa nigra 108600||spastic ataxia 1 autosomal dominant 108600||spax1 C536695|193530||weyers acrofacial dysostosis C536695|193530||acrodental dysostosis of weyers C536695|193530||acrofacial dysostosis of weyers C536695|193530||curry hall syndrome C536695|193530||wad C536695|193530||weyers acrodental dysostosis C538421||neurodegeneration with brain iron accumulation nbia D000142||acidosis respiratory D000142||acidoses respiratory D000142||respiratory acidoses D000142||respiratory acidosis D000140||acidosis lactic D000140||lactic acidosis D001471||barrett esophagus D001471||barrett epithelium D001471||barrett metaplasia D001471||barrett apos s esophagus D001471||barretts esophagus D001471||barrett apos s syndrome D001471||barretts syndrome D001471||barrett syndrome D001471||epithelium barrett D001471||esophagus barrett D001471||esophagus barrett apos s D001471||syndrome barrett D001471||syndrome barrett apos s C537128|165300||optic atrophy and cataract autosomal dominant C537128|165300||opa3 autosomal dominant C537128|165300||optic atrophy 3 autosomal dominant C537128|165300||optic atrophy cataract and neurologic disorder D001477||bartter syndrome D001477||aldosteronism with hyperplasia of the adrenal cortex D001477||bartter disease D001477||bartter apos s disease D001477||bartters disease D001477||bartter apos s syndrome D001477||bartters syndrome D001477||juxtaglomerular hyperplasia with secondary aldosteronism D001477||syndrome bartter D001477||syndrome bartter apos s D001476||bartonellaceae infections D001476||bartonellaceae infection D001476||infection bartonellaceae D001476||infections bartonellaceae D063646||carcinogenesis D063646||carcinogeneses D063646||oncogeneses D063646||oncogenesis D063646||tumorigeneses D063646||tumorigenesis D001474||bartonella infections D001474||bartonella infection D001474||bartonelloses D001474||bartonellosis D001474||carrion disease D001474||carrion apos s disease D001474||carrions disease D001474||cat scratch fever D001474||cat scratch fevers D001474||disease carrion D001474||disease carrion apos s D001474||fever cat scratch D001474||fever oroya D001474||fevers cat scratch D001474||infection bartonella D001474||infection rochalimaea D001474||infections bartonella D001474||infections rochalimaea D001474||oroya fever D001474||rochalimaea infection D001474||rochalimaea infections D001474||scratch fever cat D001474||scratch fevers cat D001474||verruga peruana D012128||respiratory distress syndrome adult D012128||acute respiratory distress syndrome D012128||adult respiratory distress syndrome D012128||ards human D012128||ardss human D012128||human ards D012128||lung shock D012128||respiratory distress syndrome acute D012128||shock lung D063647||fetal alcohol spectrum disorders D063647||alcohol related birth defects D063647||alcohol related neurodevelopmental disorder D063647||birth defects alcohol related D063647||fae fetal alcohol effects D063647||faes fetal alcohol effects D063647||fasd D063647||fasds D063647||fetal alcohol syndrome D063647||growth retardation facial abnormalities and central nervous system dysfunction D063647||partial fetal alcohol syndrome D063647||syndrome fetal alcohol 209500|C565924||atrichia with papular lesions 209500|C565924|612376|D015473||apl 209500|C565924||papular atrichia D012127||respiratory distress syndrome newborn D012127||infantile respiratory distress syndrome D012127||neonatal respiratory distress syndrome D012127||respiratory distress syndrome infant D001480||basal ganglia diseases D001480||basal ganglia disease D001480||basal ganglia disorder D001480||basal ganglia disorders D001480||extrapyramidal disorder D001480||extrapyramidal disorders D001480||lenticulostriate disorder D001480||lenticulostriate disorders 147791|D054868||jacobsen distal 11q deletion syndrome 147791|D054868||11q23 deletion disorder 147791|D054868||11q deletion disorder 147791|D054868||11q deletion syndrome 147791|D054868||11q terminal deletion disorder 147791|D054868||chromosome 11q deletion syndrome 147791|D054868||deletion disorder 11q 147791|D054868||deletion disorder 11q23 147791|D054868||disorder 11q23 deletion 147791|D054868||disorder 11q deletion 147791|D054868||jacobsen syndrome 147791|D054868||jacobsen thrombocytopenia 147791|D054868||paris trousseau syndrome 147791|D054868||paris trousseau thrombocytopenia 147791|D054868||partial 11q monosomy syndrome 147791|D054868||syndrome 11q deletion 147791|D054868||syndrome jacobsen 147791|D054868||syndrome paris trousseau 147791|D054868||thrombocytopenia jacobsen 147791|D054868||thrombocytopenia paris trousseau 607453|C564399||deafness autosomal dominant 44 607453|C564399||dfna44 D012120||respiration disorders D012120||disorder respiration D012120||disorders respiration D012120||respiration disorder D014782||visceral prolapse D014782||prolapse visceral D014782||splanchnoptosis D014782||visceroptosis D014786||vision disorders D014786||blindness day D014786||day blindness D014786||disabilities vision D014786||disability vision D014786||disorders visual D014786||disorder visual D014786||hemeralopia D014786||hemeralopias D014786||impairments visual D014786||impairment visual D014786||macropsia D014786||macropsias D014786||metamorphopsia D014786||metamorphopsias D014786||micropsia D014786||micropsias D014786||vision disabilities D014786||vision disability D014786||vision disorder D014786||visual disorder D014786||visual disorders D014786||visual impairment D014786||visual impairments 251100|C537360||methylmalonic aciduria cbla type 251100|C537360||methylmalonic acidemia cbla type 251100|C537360||methylmalonic aciduria vitamin b12 responsive due to defect in synthesis of adenosylcobalamin cbla type D006627|142623||hirschsprung disease D006627|142623||aganglionic megacolon D006627|142623||aganglionosis colonic D006627|142623||aganglionosis rectosigmoid D006627|142623||aganglionosis rectosigmoid colon D006627|142623||aganglionosis total colonic D006627|142623||colonic aganglionosis D006627|142623||congenital intestinal aganglionosis D006627|142623||congenital megacolon D006627|142623||disease hirschsprung D006627|142623||disease hirschsprung apos s D006627|142623||hirschsprung disease susceptibility to 1 D006627|142623||hirschsprung disease susceptibility to 2 D006627|142623||hirschsprung disease susceptibility to 3 D006627|142623||hirschsprung disease susceptibility to 4 D006627|142623||hirschsprung disease susceptibility to 5 D006627|142623||hirschsprung disease susceptibility to 6 D006627|142623||hirschsprung disease susceptibility to 7 D006627|142623||hirschsprung disease susceptibility to 8 D006627|142623||hirschsprung disease susceptibility to 9 D006627|142623||hirschsprung apos s disease D006627|142623||hirschsprungs disease D006627|142623||hscr D006627|142623||hscr1 D006627|142623||hscr2 D006627|142623||hscr3 D006627|142623||hscr4 D006627|142623||hscr5 D006627|142623||hscr6 D006627|142623||hscr7 D006627|142623||hscr8 D006627|142623||hscr9 D006627|142623||megacolon aganglionic D006627|142623||megacolon congenital D006627|142623||mgc D006627|142623||rectosigmoid aganglionosis D006627|142623||rectosigmoid colon aganglionosis D006627|142623||total colonic aganglionosis C537100||brachyphalangy polydactyly and tibial aplasia hypoplasia C537100||brachyphalangy polydactyly and absent tibiae C538435||lubs syndrome C538435||pseudohermaphroditism incomplete male type i C538435||rosewater syndrome C538435||type i familial incomplete male pseudohermaphroditism C537104||branchiootic syndrome C537104||bos1 C537104||bo syndrome 1 C537104||branchiootic dysplasia C537104||branchiootic syndrome 1 C538433||ancylostoma duodenale infection C537101||brachytelephalangy characteristic facies kallmann C537101||brachytelephalangy with characteristic facies and kallmann syndrome C537101||characteristic craniofacial appearance and brachytelephalangy 256550|C537366||neuraminidase 1 deficiency 256550|C537366||cherry red spot myoclonus syndrome included 256550|C537366||ml i 256550|C537366||myoclonus cherry red spot syndrome included 256550|C537366||neu1 deficiency 256550|C537366||neu1 deficiency sialidosis type i included 256550|C537366||neu deficiency 256550|C537366||neug deficiency 256550|C537366||neuraminidase deficiency 256550|C537366||sialidase deficiency 256550|C537366||sialidoses type 2 256550|C537366||sialidosis type ii C537102||branchial arch syndrome x linked C537102||mandibulofacial dysostosis toriello type D000153||acne keloid D000153||acne keloidal D000153||acne keloidalis D000153||acne keloids D000153||folliculitis keloidalis D000153||keloid acne D000153||keloidal acne D000153||keloidal acnes D000153||keloids acne C566426|602759||prostate cancer hereditary 8 C566426|602759||hpc8 C566426|602759||pcap C566426|602759||predisposing for prostate cancer 277580||ws4 277580||ws4a D000152||acne vulgaris D000152||acne C567048|610913||surfactant metabolism dysfunction pulmonary 2 C567048|610913||desquamative interstitial pneumonitis due to surfactant protein c deficiency C567048|610913||interstitial lung disease due to surfactant protein c deficiency C567048|610913||pulmonary alveolar proteinosis congenital 2 C567048|610913||smdp2 D000151||acinetobacter infections D000151||acinetobacter infection D000151||infection acinetobacter D000151||infection mimae D000151||infections acinetobacter D000151||infections mimae D000151||mimae infection D000151||mimae infections C537729|606952||oculocutaneous albinism type 1b C537729|606952||albinism oculocutaneous type ib C537729|606952||albinism yellow mutant type C537729|606952||oca1b C537729|606952||oca1 ts included C537729|606952||oculocutaneous albinism type ib C537729|606952||yellow albinism C537729|606952||yellow albinism albinism oculocutaneous type i temperature sensitive included C563409|600996||arrhythmogenic right ventricular dysplasia familial 2 C563409|600996||arrhythmogenic right ventricular cardiomyopathy 2 C563409|600996||arvc2 C563409|600996||arvd2 D000160||vestibulocochlear nerve diseases D000160||acoustic nerve disease D000160||acoustic nerve diseases D000160||acoustic nerve disorder D000160||acoustic nerve disorders D000160||cochlear nerve disease D000160||cochlear nerve diseases D000160||cochlear nerve disorder D000160||cochlear nerve disorders D000160||cochlear neuritides D000160||cochlear neuritis D000160||cranial nerve viii diseases D000160||cranial nerve viii disorders D000160||eighth cranial nerve diseases D000160||neuritides cochlear D000160||neuritis cochlear D000160||vestibular nerve disease D000160||vestibular nerve diseases D000160||vestibular nerve disorder D000160||vestibular nerve disorders D000160||vestibulocochlear nerve disease D012131||respiratory insufficiency D012131||depressions ventilatory D012131||respiratory depression D012131||respiratory failure D012131||ventilatory depression C537534|606744||seckel syndrome 2 C537534|606744||bird headed dwarfism 2 C537534|606744||microcephalic primordial dwarfism 2 C537534|606744||sckl2 C537534|606744||seckel type dwarfism 2 D012130||respiratory hypersensitivity D012130||hypersensitivities respiratory D012130||hypersensitivity respiratory D012130||respiratory hypersensitivities D012135||respiratory sounds D012135||breathing sound D012135||breathing sounds D012135||crackle D012135||crackles D012135||lung sound D012135||lung sounds D012135||pleural rub D012135||pleural rubs D012135||rale D012135||rales D012135||respiratory sound D012135||rhonchi D012135||rhonchus D012135||rub pleural D012135||sound breathing D012135||sound lung D012135||sound respiratory D012135||sounds breathing D012135||sounds lung D012135||stridor D012135||stridors D012135||wheezing D012135||wheezings D012133||respiratory paralysis D012133||diaphragmatic paralysis D012133||muscle paralyses respiratory D012133||muscle paralysis respiratory D012133||paralysis diaphragmatic D012133||paralysis respiratory D012133||paralysis respiratory muscle D012133||respiratory muscle paralysis C538429||hypoadrenocorticism familial C538429||adrenal aplasia C538429||adrenal hypoplasia C535706|608612||mandibuloacral dysplasia with type b lipodystrophy C535706|608612||lipodystrophy type b associated with mandibuloacral dysplasia C535706|608612||madb D000126||achlorhydria D000126||achylia gastrica D000126||hypochlorhydria C536654|261680||phosphoenolpyruvate carboxykinase deficiency C536654|261680||pck1 deficiency cytosolic C536654|261680||pepck deficiency cytosolic C536654|261680||phosphoenolpyruvate carboxykinase 1 pck1 deficiency C536654|261680||phosphoenolpyruvate carboxykinase deficiency cytosolic C536654|261680||phosphoenolpyruvate carboxylase deficiency C536654|261680||phosphopyruvate carboxylase deficiency D002780||cholestasis intrahepatic D002780||bile duct obstruction intrahepatic D002780||biliary stases intrahepatic D002780||biliary stasis intrahepatic D002780||cholestases intrahepatic D002780||intrahepatic biliary stases D002780||intrahepatic biliary stasis D002780||intrahepatic cholestases D002780||intrahepatic cholestasis C565547|231300||glaucoma 3 primary congenital a C565547|231300||buphthalmos glaucoma primary open angle adult onset included C565547|231300||glaucoma congenital C565547|231300||glaucoma primary open angle juvenile onset included C565547|231300||glc3 C565547|231300||glc3a D002781||cholesteatoma D002781||cholesteatomas C564723|300066||deafness x linked 4 C564723|300066||deafness nonsyndromic sensorineural progressive 6 C564723|300066||deafness x linked 6 progressive C564723|300066||dfn6 C564723|300066||dfnx4 D014766||viremia D014766||viremias D013436||sulfhemoglobinemia D013436||sulfhemoglobinemias C537516|601200||pleuropulmonary blastoma C537516|601200||ppb C537516|601200||ppb familial tumor and dysplasia syndrome C537516|601200||ppbftds C537241|312060||properdin deficiency x linked C537241|312060||cfpd C537241|312060||complement factor properdin deficiency C537241|312060||pfd C537241|312060||properdin deficiency type 1 C537241|312060||properdin deficiency type i C537241|312060||properdin deficiency type iii included C537241|312060||properdin deficiency type i properdin deficiency type ii included C537241|312060||properdin p factor deficiency D051677||histiocytoma malignant fibrous D051677||fibrohistiocytic tumor malignant D051677||fibrohistiocytic tumors malignant D051677||fibrous histiocytoma malignant D051677||fibrous histiocytomas malignant D051677||histiocytomas malignant fibrous D051677||malignant fibrohistiocytic tumor D051677||malignant fibrohistiocytic tumors D051677||malignant fibrous histiocytoma D051677||malignant fibrous histiocytomas D051677||pleomorphic malignant fibrous histiocytoma D051677||tumor malignant fibrohistiocytic D051677||tumors malignant fibrohistiocytic C567210|612651||endocrine cerebroosteodysplasia C567210|612651||eco D000138||acidosis D000138||acidoses D000138||acidoses metabolic D000138||acidosis metabolic D000138||metabolic acidoses D000138||metabolic acidosis D001469||barotrauma D001469||barotraumas D052919|601539||refsum disease infantile D052919|601539||adrenoleukodystrophy autosomal neonatal D052919|601539||disease infantile refsum D052919|601539||disease infantile refsum apos s D052919|601539||infantile form of phytanic acid storage disease D052919|601539||infantile phytanic acid storage disease D052919|601539||infantile refsum disease D052919|601539||infantile refsum apos s disease D052919|601539||infantile refsums disease D052919|601539||pbd1b D052919|601539||peroxisome biogenesis disorder 1b D052919|601539||peroxisome biogenesis disorder nald ird D052919|601539||peroxisome biogenesis disorder neonatal adrenoleukodystrophy infantile refsum disease D052919|601539||refsum disease infantile form D052919|601539||refsum apos s disease infantile D052919|601539||refsums disease infantile D000137||acid base imbalance D000137||acid base imbalances D000137||imbalance acid base D000137||imbalances acid base C565662|219080||acth independent macronodular adrenal hyperplasia C565662|219080||acth independent cushing syndrome C565662|219080||acth independent macronodular adrenocortical hyperplasia C565662|219080||adrenocorticotropic hormone independent macronodular adrenal hyperplasia C565662|219080||aimah C565662|219080||corticotropin independent macronodular adrenal hyperplasia C565662|219080||cushing syndrome adrenal due to aimah D002796||choline deficiency D002796||choline deficiencies D002796||deficiencies choline D002796||deficiency choline C566474|610445||night blindness congenital stationary autosomal dominant 1 C566474|610445||csnbad1 C566474|610445||night blindness congenital stationary rhodopsin related D014777||virus diseases D014777||diseases viral D014777||diseases virus D014777||disease viral D014777||disease virus D014777||viral disease D014777||viral diseases D014777||virus disease D014770||virilism D014770||androgenization D014770||virilization D001437||bacteriuria D001437||bacteriurias D002769||cholelithiasis D002769||cholelithiases C567645|613319||miyoshi muscular dystrophy 3 C567645|613319||miyoshi myopathy 3 C567645|613319||mmd3 D002761||cholangitis D002761||cholangitides C538355|610883||potocki lupski syndrome C538355|610883||chromosome 17p11 2 duplication syndrome C538355|610883||duplication 17p11 2 syndrome C538355|610883||potocki lupski syndrome dup 17 p11 2p11 2 C538355|610883||ptls D002764||cholecystitis D002764||empyema gallbladder D002764||empyema gall bladder D002764||gallbladder empyema D002764||gall bladder empyema D002764||gallbladder inflammation D002764||inflammation gallbladder C563867|608747||insulin like growth factor i deficiency C563867|608747||growth retardation with sensorineural deafness and mental retardation C563867|608747||igf1 deficiency 259710||optb2 580000|C564013||deafness aminoglycoside induced 580000|C564013||deafness streptomycin induced 580000|C564013||streptomycin ototoxicity D001447||balantidiasis D001447||balantidiases 153700|D057826||vitelliform macular dystrophy 153700|D057826||adult onset foveomacular dystrophies 153700|D057826||adult onset foveomacular dystrophy 153700|D057826||adult onset vitelliform macular dystrophy 153700|D057826||aofmd 153700|D057826||avmd 153700|D057826||best disease 153700|D057826||best macular dystrophy 153700|D057826||best apos s disease 153700|D057826||best vitelliform macular dystrophy 153700|D057826|300376|D020388|C537666||bmd 153700|D057826||disease best 153700|D057826||disease best apos s 153700|D057826||dystrophies adult onset foveomacular 153700|D057826||dystrophies vitelliform macular 153700|D057826||dystrophy adult onset foveomacular 153700|D057826||dystrophy best macular 153700|D057826||dystrophy vitelliform macular 153700|D057826||foveomacular dystrophies adult onset 153700|D057826||foveomacular dystrophy adult onset 153700|D057826||foveomacular dystrophy adult onset with choroidal neovascularization 153700|D057826||juvenile onset vitelliform macular dystrophy 153700|D057826||macular degeneration polymorphic vitelline 153700|D057826||macular degeneration polymorphic vitelline best vitelliform macular dystrophy multifocal included 153700|D057826||macular dystrophies vitelliform 153700|D057826||macular dystrophy best 153700|D057826||macular dystrophy vitelliform 153700|D057826||macular dystrophy vitelliform adult onset 153700|D057826||vitelliform dystrophy 153700|D057826||vitelliform macular dystrophies 153700|D057826||vitelliform macular dystrophy adult onset 153700|D057826||vitelliform macular dystrophy early onset 153700|D057826||vitelliform macular dystrophy juvenile onset 153700|D057826||vitelliform macular dystrophy type 2 153700|D057826||vmd D001446||balanitis D001446||balanitides 300425||autism susceptibility to x linked 1 300425||autsx1 D001449||balkan nephropathy D001449||balkan endemic nephropathy D001449||danubian endemic familial nephropathy D001449||endemic nephropathy balkan D001449||nephropathy balkan D001449||nephropathy balkan endemic D002779||cholestasis D002779||bile duct obstruction D002779||bile duct obstructions D002779||biliary stases D002779||biliary stasis D002779||cholestases D002779||duct obstruction bile D002779||duct obstructions bile D002779||obstruction bile duct D002779||obstructions bile duct D002779||stases biliary D002779||stasis biliary D001442||bacteroides infections D001442||bacteroides infection D001442||infection bacteroides D001442||infections bacteroides C535959|131960||epidermolysis bullosa simplex with mottled pigmentation C535959|131960||ebs mp C535959|131960||speckled hyperpigmentation palmo plantar punctate keratoses and childhood blistering C535959|131960||speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering D002771||cholera D002771||choleras C565531|233710||granulomatous disease chronic autosomal recessive cytochrome b positive type ii C565531|233710||cgd autosomal recessive cytochrome b positive type ii C565531|233710||granulomatous disease chronic due to ncf2 deficiency C565531|233710||ncf2 deficiency of C565531|233710||neutrophil cytosol factor 2 deficiency of C565531|233710||p67 phox deficiency of D050379||arteriolosclerosis D050379||arterioloscleroses D001416||back pain D001416||ache back D001416||aches back D001416||backache D001416||back ache D001416||backaches D001416||back aches D001416||back pains D001416||back pain without radiation D001416||back pain with radiation D001416||pain back D001416||pains back D001416||pain syndromes vertebrogenic D001416||pain syndrome vertebrogenic D001416||syndromes vertebrogenic pain D001416||syndrome vertebrogenic pain D001416||vertebrogenic pain syndrome D001416||vertebrogenic pain syndromes 613573||ectodermal dysplasia syndactyly syndrome 1 613573||edss1 613575||retinitis pigmentosa 55 613575||rp55 613576||ectodermal dysplasia syndactyly syndrome 2 613576||edss2 612239||scoliosis idiopathic susceptibility to 5 612239||is5 C562722|131400||eosinophilia familial C562722|131400|C563714|609464||eos C562722|131400||familial eosinophilia 612238||scoliosis idiopathic susceptibility to 4 612238||is4 C563443|600794||neuronopathy distal hereditary motor type v C563443|600794||dhmn5 C563443|600794||dhmn5a C563443|600794||dhmn v C563443|600794||dhmn va C563443|600794||distal hereditary motor neuronopathy type v C563443|600794||distal hereditary motor neuropathy type v C563443|600794||distal spinal muscular atrophy type v C563443|600794||dsmav C563443|600794||dsmava C563443|600794||hmn5 C563443|600794||hmn5a C563443|600794||hmn v C563443|600794||hmn va C563443|600794||neuronopathy distal hereditary motor type va C563443|600794||neuropathy distal hereditary motor type v C563443|600794||neuropathy distal hereditary motor type va C563443|600794||spinal muscular atrophy distal type v C563443|600794||spinal muscular atrophy distal type va C563443|600794||spinal muscular atrophy distal with upper limb predominance C565700|610213||aneurysm intracranial berry 4 C565700|610213||anib4 D050380||monckeberg medial calcific sclerosis D050380||calcific scleroses medial D050380||calcific sclerosis medial D050380||medial calcific scleroses D050380||medial calcific sclerosis D050380||m 246 nckeberg medial calcific sclerosis D050380||monckeberg sclerosis D050380||m 246 nckeberg sclerosis D050380||monckeberg apos s medial calcific sclerosis D050380||m 246 nckeberg apos s medial calcific sclerosis D050380||monckeberg apos s sclerosis D050380||monckebergs sclerosis D050380||m 246 nckeberg apos s sclerosis D050380||m 246 nckebergs sclerosis D050380||scleroses medial calcific D050380||sclerosis medial calcific D050380||sclerosis monckeberg medial calcific D050380||sclerosis m 246 nckeberg medial calcific D050380||sclerosis monckeberg apos s D050380||sclerosis m 246 nckeberg apos s D014720||vesicular exanthema of swine D014720||swine vesicular exanthema D014720||swine vesicular exanthemas D048070||fetal nutrition disorders D048070||fetal malnutrition D048070||fetal nutrition disorder D048070||malnutrition fetal D048070||nutrition disorder fetal D048070||nutrition disorders fetal D002759||adenoma bile duct D002759||adenomas bile duct D002759||bile duct adenoma D002759||bile duct adenomas D002759||cholangioma D002759||cholangiomas D001424||bacterial infections D001424||bacterial infection D001424||infection bacterial D001424||infections bacterial D001423||bacterial infections and mycoses C563551|159595||myeloproliferative syndrome transient C563551|159595||leukemia transient C563551|159595||mst C563551|159595||tam C563551|159595||transient abnormal myelopoiesis D002754||choanal atresia D002754||atresia choanal D002754||atresias choanal D002754||choanal atresias C567197|612712||leber congenital amaurosis 13 C567197|612712||lca13 C567197|612712||retinitis pigmentosa 53 included C567197|612712||rp53 included 613563||noonan syndrome like disorder with or without juvenile myelomonocytic leukemia 613563||cbl mutation associated syndrome 613563||cbl syndrome 613563||nsll 613558||deafness autosomal dominant 51 613558||chromosome 9q21 11 duplication syndrome 613558||dfna51 D014735||vibrio infections D014735||infections vibrio D014735||infection vibrio D014735||vibrio infection 613559||combined oxidative phosphorylation deficiency 7 613559||coxpd7 C567390|612233||leukodystrophy hypomyelinating 4 C567390|612233||hld4 C567390|612233||mitchap60 disease C567390|612233||mitochondrial hsp60 chaperonopathy C564624|607101||deafness autosomal recessive 30 C564624|607101||dfnb30 601583||wilms tumor susceptibility to 601583||wt5 601583||wtsl 607829|C564326||mitral valve prolapse myxomatous 2 607829|C564326||mmvp2 607829|C564326||myxomatous mitral valve prolapse 2 C562692|237900||hyperbilirubinemia transient familial neonatal C562692|237900||hblrtfn C562692|237900||lucey driscoll syndrome breast milk jaundice included D050398||adamantinoma D050398||adamantinomas C537139|600376||osler rendu weber syndrome 2 C537139|600376||telangiectasia hereditary hemorrhagic type 2 C537139|600376||telangiectasia hereditary hemorrhagic type 2 hht2 pulmonary arterial hypertension hereditary hemorrhagic telangiectasia related 254600|C562864||myeloperoxidase deficiency 254600|C562864||mpod 254600|C562864||mpo deficiency C537652|601678||bartter syndrome antenatal type 1 C537652|601678||antenatal bartter syndrome type 1 C537652|601678||hyperprostaglandin e syndrome 1 C537652|601678||hypokalemic alkalosis with hypercalciuria antenatal C537652|601678||hypokalemic alkalosis with hypercalciuria antenatal 1 C538655|232200||hepatorenal form of glycogen storage disease C538655|232200||glycogen storage disease i C538655|232200||glycogen storage disease ia C538655|232200||glycogen storage disease type ia C538655|232200||gsd1 C538655|232200||gsd1a C538655|232200||gsd ia C538655|232200||hepatorenal glycogenosis D048089||pneumonia of calves enzootic D048089||calf pneumonia enzootic D048089||enzootic calf pneumonia D048089||enzootic calf pneumonias D048089||enzootic pneumonia of calves D048089||pneumonia enzootic calf D048089||pneumonias enzootic calf 613550||nephronophthisis 11 613550||nphp11 C537856|193003||nystagmus 4 congenital autosomal dominant C537856|193003||nys4 C537856|193003||vestibulocerebellar disorder with predominant ocular signs C535502|600204||epiphyseal dysplasia multiple 2 C535502|600204||edm2 C535502|600204||multiple epiphyseal dysplasia 2 D048090||bovine respiratory disease complex C567206|612657||cone rod dystrophy 12 C567206|612657||cord12 257910|C564935||oculopalatocerebral syndrome 257910|C564935||oculopalatocerebral dwarfism 257910|C564935||opc dwarfism C567070|300636||atypical mycobacteriosis familial x linked 1 C567070|300636||amcbx1 C567070|300636||atypical mycobacterial infection disseminated x linked 1 C567070|300636||atypical mycobacterial infection familial disseminated x linked 1 C567070|300636||mycobacterial disease susceptibility to x linked 1 C537568|311150||jensen syndrome C537568|311150||nerve deafness optic nerve atrophy and dementia C537568|311150||opticoacoustic nerve atrophy with dementia C537568|311150||opticoacustic nerve atrophy with dementia C537568|311150||syndrome of opticoacoustic nerve atrophy with dementia C535857|158300||hecht syndrome C535857|158300||arthrogryposis distal type 7 C535857|158300||da7 C535857|158300||mouth inability to open completely and short finger flexor tendons C535857|158300||trismus pseudocamptodactyly C535857|158300||trismus pseudocamptodactyly syndrome C537853|310700||nystagmus 1 congenital x linked C537853|310700||nystagmus 1 infantile x linked C537853|310700||nystagmus congenital motor 1 C537853|310700||nystagmus infantile idiopathic formerly iin formerly nystagmus infantile periodic alternating x linked included C537853|310700||xipan included C537853|310700||xlpan included D001404||babesiosis D001404||babesia parasite infection D001404||babesia parasite infections D001404||babesiases D001404||babesiasis D001404||babesioses D001404||babesioses human D001404||babesiosis human D001404||human babesioses D001404||human babesiosis D001404||infection babesia parasite D001404||infections babesia parasite D001404||piroplasmoses D001404||piroplasmosis D044903|256450||congenital hyperinsulinism D044903|256450||congenital hyperinsulinisms D044903|256450||familial hyperinsulinemic hypoglycemia 1 D044903|256450||familial hyperinsulinism D044903|256450||familial hyperinsulinisms D044903|256450||hhf1 D044903|256450||hhf2 D044903|256450||hyperinsulinemia hypoglycemia of infancy D044903|256450||hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia D044903|256450||hyperinsulinemic hypoglycemia familial 1 D044903|256450||hyperinsulinemic hypoglycemia familial 2 D044903|256450||hyperinsulinemic hypoglycemia persistent D044903|256450||hyperinsulinemic hypoglycemias persistent D044903|256450||hyperinsulinism congenital D044903|256450||hyperinsulinism familial D044903|256450||hyperinsulinism neonatal D044903|256450||hyperinsulinisms congenital D044903|256450||hyperinsulinisms familial D044903|256450||hyperinsulinisms neonatal D044903|256450||hypoglycemia hyperinsulinemic of infancy D044903|256450||hypoglycemia persistent hyperinsulinemic D044903|256450||hypoglycemia phhi D044903|256450||hypoglycemias persistent hyperinsulinemic D044903|256450||hypoglycemias phhi D044903|256450||infancy hyperinsulinemia hypoglycemia D044903|256450||infancy hyperinsulinemia hypoglycemias D044903|256450||neonatal hyperinsulinism D044903|256450||neonatal hyperinsulinisms D044903|256450||persistent hyperinsulinemia hypoglycemia of infancy D044903|256450||persistent hyperinsulinemic hypoglycemia D044903|256450||persistent hyperinsulinemic hypoglycemia of infancy D044903|256450||persistent hyperinsulinemic hypoglycemias D044903|256450||phhi D044903|256450||phhi hypoglycemia D044903|256450||phhi hypoglycemias C565690|610678||combined oxidative phosphorylation deficiency 4 C565690|610678||coxpd4 D001405||reflex babinski D001405||babinski reflex D001405||babinski reflexes D001405||babinski sign D001405||babinski sign absent D001405||babinski sign negative D001405||babinski sign positive D001405||babinski signs D001405||babinski apos s reflex D001405||babinski apos s sign D001405||babinski apos s signs D001405||extensor plantar reflex D001405||extensor plantar response D001405||extensor plantar responses D001405||great toe paradoxical extensor reflex D001405||paradoxical extensor reflex great toe D001405||plantar reflex extensor D001405||plantar response extensor D001405||plantar responses extensor D001405||reflex babinski apos s D001405||reflexes babinski D001405||reflex extensor plantar D001405||response extensor plantar D001405||responses extensor plantar D001405||signs babinski apos s C536482|191830||hereditary renal agenesis C536482|191830||bilateral renal agenesis C536482|191830|C563261||hereditary renal aplasia C536482|191830||hra C536482|191830||potter syndrome C536482|191830|C563261||renal adysplasia C536482|191830||renal agenesis C536482|191830|C563261||renal aplasia C536482|191830||renal hypodysplasia aplasia 1 C536482|191830||rhda1 C536482|191830||urogenital adysplasia hereditary D045825||fusobacteriaceae infections D045825||fusobacteriaceae infection D045825||infection fusobacteriaceae D045825||infections fusobacteriaceae D001749|109800||urinary bladder neoplasms D001749|109800||bladder cancer D001749|109800||bladder cancers D001749|109800||bladder neoplasm D001749|109800||bladder neoplasms D001749|109800||bladder tumor D001749|109800||bladder tumors D001749|109800||cancer bladder D001749|109800||cancer of bladder D001749|109800||cancer of the bladder D001749|109800||cancer urinary bladder D001749|109800||malignant tumor of urinary bladder D001749|109800||neoplasm bladder D001749|109800||neoplasms bladder D001749|109800||neoplasm urinary bladder D001749|109800||tumor bladder D001749|109800||tumors bladder D001749|109800||urinary bladder cancer D001749|109800||urinary bladder neoplasm D016889|608089||endometrial neoplasms D016889|608089||cancer endometrial D016889|608089||cancer endometrium D016889|608089||cancer of endometrium D016889|608089||cancer of the endometrium D016889|608089||cancers endometrial D016889|608089||cancers endometrium D016889|608089||carcinoma endometrial D016889|608089||carcinoma of endometrium D016889|608089||carcinomas endometrial D016889|608089||endometrial cancer D016889|608089||endometrial cancers D016889|608089||endometrial carcinoma D016889|608089||endometrial carcinomas D016889|608089||endometrial neoplasm D016889|608089||endometrium cancer D016889|608089||endometrium cancers D016889|608089||endometrium carcinoma D016889|608089||endometrium carcinomas D016889|608089||neoplasm endometrial D016889|608089||neoplasms endometrial D045826||flavobacteriaceae infections D045826||flavobacteriaceae infection D045826||infection flavobacteriaceae D045826||infections flavobacteriaceae D045823||ileus D014719||vesicovaginal fistula D014719||fistulas vesicovaginal D014719||fistula vesicovaginal D014719||vesicovaginal fistulas D045824||desulfovibrionaceae infections D045824||bilophila infection D045824||bilophila infections D045824||desulfovibrio infection D045824||desulfovibrio infections D045824||desulfovibrionaceae infection D045824||infection bilophila D045824||infection desulfovibrio D045824||infection desulfovibrionaceae D045824||infection lawsonia D045824||infections bilophila D045824||infections desulfovibrio D045824||infections desulfovibrionaceae D045824||infections lawsonia D045824||lawsonia infection D045824||lawsonia infections D045822||intestinal volvulus D045822||volvulus D045822||volvulus intestinal D045822||volvulus intestine C537070|229070||follicle stimulating hormone deficiency isolated C537070|229070||isolated follicle stimulating hormone fsh deficiency C537070|229070||isolated fsh deficiency 614869||usher syndrome type ij 614869||ush1j C563981|600175||spinal muscular atrophy distal congenital nonprogressive C563981|600175||spinal muscular atrophy congenital benign with contractures C564608|607200||thyroid dyshormonogenesis 6 C564608|607200||hypothyroidism congenital due to dyshormonogenesis 6 C564608|607200||tdh6 C564608|607200||thyroid hormonogenesis genetic defect in 6 D014717||vertigo D014717||brainstem vertigo D014717||brain stem vertigo D014717||brainstem vertigos D014717||central nervous system origin vertigo D014717||central origin vertigo D014717||constant vertigo D014717||essential vertigo D014717||intermittant vertigo D014717||paroxysmal vertigo D014717||peripheral vertigo D014717||positional vertigo D014717||sensation spinning D014717||sensations spinning D014717||spinning sensation D014717||spinning sensations D014717||subjective vertigo D014717||vertigo brainstem D014717||vertigo brain stem D014717||vertigo central nervous system origin D014717||vertigo central origin D014717||vertigo constant D014717||vertigo essential D014717||vertigo intermittant D014717||vertigo paroxysmal D014717||vertigo peripheral D014717||vertigo positional D014717||vertigos brainstem D014717||vertigo subjective D045827||cytophagaceae infections D045827||cytophagaceae infection D045827||flexibacteraceae infection D045827||flexibacteraceae infections D045827||infection cytophagaceae D045827||infection flexibacteraceae D045827||infections cytophagaceae D045827||infections flexibacteraceae D014715||vertebrobasilar insufficiency D014715||artery insufficiencies basilar D014715||artery insufficiencies vertebral D014715||artery insufficiency basilar D014715||artery insufficiency vertebral D014715||artery ischemia basilar D014715||artery ischemias basilar D014715||artery ischemias vertebral D014715||artery ischemia vertebral D014715||artery stenoses basilar D014715||artery stenoses vertebral D014715||artery stenosis basilar D014715||artery stenosis vertebral D014715||basilar artery insufficiencies D014715||basilar artery insufficiency D014715||basilar artery ischemia D014715||basilar artery ischemias D014715||basilar artery stenoses D014715||basilar artery stenosis D014715||basilar insufficiencies D014715||basilar insufficiency D014715||dolichoectasias vertebrobasilar D014715||dolichoectasia vertebrobasilar D014715||insufficiencies basilar D014715||insufficiencies basilar artery D014715||insufficiencies vertebral artery D014715||insufficiencies vertebrobasilar D014715||insufficiencies vertebro basilar D014715||insufficiency basilar D014715||insufficiency basilar artery D014715||insufficiency vertebral artery D014715||insufficiency vertebrobasilar D014715||insufficiency vertebro basilar D014715||ischemia basilar artery D014715||ischemias basilar artery D014715||ischemias vertebral artery D014715||ischemias vertebrobasilar D014715||ischemias vertebro basilar D014715||ischemia vertebral artery D014715||ischemia vertebrobasilar D014715||ischemia vertebro basilar D014715||stenoses basilar artery D014715||stenoses vertebral artery D014715||stenosis basilar artery D014715||stenosis vertebral artery D014715||vertebral artery insufficiencies D014715||vertebral artery insufficiency D014715||vertebral artery ischemia D014715||vertebral artery ischemias D014715||vertebral artery stenoses D014715||vertebral artery stenosis D014715||vertebrobasilar dolichoectasia D014715||vertebrobasilar dolichoectasias D014715||vertebrobasilar insufficiencies D014715||vertebro basilar insufficiencies D014715||vertebro basilar insufficiency D014715||vertebrobasilar ischemia D014715||vertebro basilar ischemia D014715||vertebrobasilar ischemias D014715||vertebro basilar ischemias D045828||moraxellaceae infections D045828||infection moraxella D045828||infection moraxellaceae D045828||infection psychobacter D045828||infections moraxella D045828||infections moraxellaceae D045828||infections psychobacter D045828||moraxellaceae infection D045828||moraxella infection D045828||moraxella infections D045828||psychobacter infection D045828||psychobacter infections C536587|203780||alport syndrome recessive type C567527|225410||ehlers danlos syndrome type vii autosomal recessive C567527|225410||dermatosparaxis C567527|225410||eds7c C567527|225410||eds viic C567527|225410||ehlers danlos syndrome dermatosparaxis type 601547||cataract 3 multiple types 601547||cataract 3 multiple types with or without microcornea 601547|C563294||cataract congenital cerulean type 2 601547||cca2 601547||ctrct3 D018297||neoplasms cystic mucinous and serous C566935|611488||macular degeneration age related 10 C566935|611488||armd10 D018299||neoplasms ductal lobular and medullary D018299||ductal lobular and medullary neoplasms D018298||mucoepidermoid tumor D018298||mucoepidermoid tumors D018298||tumor mucoepidermoid D018298||tumors mucoepidermoid D018293||cystadenoma serous D018293||cystadenomas serous D018293||serous cystadenoma D018293||serous cystadenomas D018292||cystadenoma papillary D018292||cystadenomas papillary D018292||papillary cystadenoma D018292||papillary cystadenomas D018295||neoplasms basal cell D018295||basal cell cancer D018295||basal cell cancers D018295||basal cell neoplasm D018295||basal cell neoplasms D018295||cancer basal cell D018295||cancers basal cell D018295||cell cancer basal D018295||cell cancers basal D018295||cell neoplasm basal D018295||cell neoplasms basal D018295||neoplasm basal cell D061085||agenesis of corpus callosum D061085||absence of corpus callosum D061085||ageneses corpus callosum D061085||agenesis corpus callosum D061085||corpus callosum absence D061085||corpus callosum absences D061085||corpus callosum ageneses D061085||corpus callosum agenesis D061085||corpus callosum agenesis of D061085||corpus callosum dysgeneses D061085||corpus callosum dysgenesis D061085||corpus callosum hypogeneses D061085||corpus callosum hypogenesis D061085||corpus callosum malformation D061085||dysgeneses corpus callosum D061085||dysgenesis corpus callosum D061085||hypogeneses corpus callosum D061085||hypogenesis corpus callosum D018294||neoplasms adnexal and skin appendage D018294||adnexal and skin appendage neoplasms 278800|C535992||de sanctis cacchione syndrome 278800|C535992||desanctis cacchione syndrome 278800|C535992||xeroderma pigmentosum mental deficiency dwarfism and gonadal hypoplasia 278800|C535992||xerodermic idiocy of de sanctis and cacchione D044504||enterocolitis neutropenic D044504||ileocecal syndrome D044504||neutropenic enterocolitis D044504||syndrome ileocecal D018291||cystadenoma mucinous D018291||cystadenomas mucinous D018291||mucinous cystadenoma D018291||mucinous cystadenomas 613530||muscular dystrophy limb girdle type 1h 613530||lgmd1h D018290||cervical intraepithelial neoplasia D018290||cervical intraepithelial neoplasia grade iii D018290||cervical intraepithelial neoplasm D018290||cervical intraepithelial neoplasms D018290||intraepithelial neoplasia cervical D018290||intraepithelial neoplasm cervical D018290||intraepithelial neoplasms cervical D018290||neoplasia cervical intraepithelial D018290||neoplasm cervical intraepithelial D018290||neoplasms cervical intraepithelial C567803|613038||pituitary hormone deficiency combined 1 C567803|613038||cphd1 C535731|224050||dysequilibrium syndrome C535731|224050||autosomal recessive cerebellar ataxia with mental retardation C535731|224050||autosomal recessive cerebellar hypoplasia with cerebral gyral simplification C535731|224050||camrq1 C535731|224050||cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1 C535731|224050||cerebellar ataxia congenital and mental retardation autosomal recessive C535731|224050||cerebellar ataxia mental retardation and dysequilibrium syndrome 1 C535731|224050||cerebellar disorder nonprogressive with mental retardation C535731|224050||cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion C535731|224050||cerebellar hypoplasia vldlr associated C535731|224050||chmrq1 C535731|224050||des C535731|224050||des vldlr C535731|224050||dysequilibrium syndrome vldlr C535731|224050||vldlr associated cerebellar hypoplasia C535731|224050||vldlrch C535731|224050||vldlr ch C535388|301835||arts syndrome C535388|301835||arts C535388|301835||ataxia deafness optic atrophy lethal C535388|301835||ataxia fatal x linked with deafness and loss of vision C535388|301835||mental retardation x linked syndromic 18 C535388|301835||mental retardation x linked syndromic arts type C535388|301835||mrxs18 C535388|301835||mrxsarts C535388|301835||x linked fatal ataxia with deafness and loss of vision 612576|C567245||split hand foot malformation with long bone deficiency 3 612576|C567245||chromosome 17p13 3 telomeric duplication syndrome 612576|C567245||shfld3 D031261||poult enteritis mortality syndrome D031261||mortality syndrome spiking D031261||spiking mortality syndrome D018289||carcinoma verrucous D018289||carcinomas verrucous D018289||verrucous carcinoma D018289||verrucous carcinomas D006012|232600||glycogen storage disease type v D006012|232600||deficiencies muscle phosphorylase D006012|232600||deficiencies myophosphorylase D006012|232600||deficiencies pygm D006012|232600||deficiency muscle phosphorylase D006012|232600||deficiency myophosphorylase D006012|232600||deficiency pygm D006012|232600||disease mcardle D006012|232600||disease mcardle apos s D006012|232600||glycogenosis 5 D006012|232600||glycogenosis 5s D006012|232600||glycogen storage disease type 5 D006012|232600||glycogen storage disease v D006012|232600||gsd5 D006012|232600||gsd v D006012|232600||mcardle disease D006012|232600||mcardle apos s disease D006012|232600||mcardles disease D006012|232600||mcardle syndrome D006012|232600||mcardle syndromes D006012|232600||mcardle type glycogen storage disease D006012|232600||muscle glycogen phosphorylase deficiency D006012|232600||muscle phosphorylase deficiencies D006012|232600||muscle phosphorylase deficiency D006012|232600||myophosphorylase deficiencies D006012|232600||myophosphorylase deficiency D006012|232600||phosphorylase deficiencies muscle D006012|232600||phosphorylase deficiency muscle D006012|232600||pygm deficiencies D006012|232600||pygm deficiency D006012|232600||syndrome mcardle D006012|232600||syndromes mcardle C536759|309555||x linked mental retardation gustavson type C536759|309555||gust C536759|309555||gustavson syndrome C536759|309555||mental retardation with optic atrophy deafness and seizures C536759|309555||mental retardation x linked severe gustavson type C569516||trichophyton infection C566715|180105||retinitis pigmentosa 10 C566715|180105||rp10 D017488|113800||hyperkeratosis epidermolytic D017488|113800||bcie D017488|113800||bie D017488|113800||bullous congenital ichthyosiform erythroderma D017488|113800||bullous erythroderma ichthyosiforme D017488|113800||bullous erythroderma ichthyosiformes D017488|113800||bullous erythroderma ichthyosiformis congenita of brocq D017488|113800||bullous ichthyosiform erythroderma D017488|113800||bullous ichthyosiform erythroderma congenital D017488|113800||bullous ichthyosiform erythrodermas D017488|113800||congenital bullous ichthyosiform erythroderma D017488|113800||congenital ichthyosiform erythroderma bullous D017488|113800||ehk D017488|113800||epidermolytic hyperkeratoses D017488|113800||epidermolytic hyperkeratosis D017488|113800||epidermolytic ichthyosis D017488|113800||epidermolytic ichthyosis epidermolytic hyperkeratosis late onset included D017488|113800||erythroderma bullous ichthyosiform D017488|113800||erythroderma ichthyosiforme bullous D017488|113800||erythroderma ichthyosiformes bullous D017488|113800||erythrodermas bullous ichthyosiform D017488|113800||hyperkeratoses epidermolytic D017488|113800||ichthyosiforme bullous erythroderma D017488|113800||ichthyosiform erythroderma bullous D017488|113800||ichthyosiform erythroderma bullous congenital D017488|113800||ichthyosiform erythrodermas bullous D017488|113800||ichthyosiformes bullous erythroderma 613517||microphthalmia isolated 6 613517||mcop6 613517||microphthalmia posterior nonsyndromic C535349|125520||cayler cardiofacial syndrome C535349|125520||acf C535349|125520||asymmetric crying facies C535349|125520||cayler apos s syndrome C535349|125520||cayler syndrome C535349|125520||depressor anguli oris muscle hypoplasia of C535349|125520||facial paresis partial unilateral C535349|125520||partial unilateral facial paralysis C537330|260400||shwachman syndrome C537330|260400||congenital lipomatosis of pancreas C537330|260400||lipomatosis of pancreas congenital C537330|260400||metaphyseal chondrodysplasia shwachman type C537330|260400||pancreatic insufficiency and bone marrow dysfunction C537330|260400||sds C537330|260400||shwachman bodian diamond syndrome C537330|260400||shwachman bodian syndrome C537330|260400||shwachman diamond oski syndrome C537330|260400||shwachman diamond syndrome D018275||carcinoma lobular D018275||carcinomas lobular D018275||lobular carcinoma D018275||lobular carcinomas D018277||carcinoma mucoepidermoid D018277||carcinomas mucoepidermoid D018277||mucoepidermoid carcinoma D018277||mucoepidermoid carcinomas D018276||carcinoma medullary D018276||carcinomas medullary D018276||medullary carcinoma D018276||medullary carcinomas D018270||carcinoma ductal breast D018270||carcinoma infiltrating duct D018270||carcinoma invasive ductal breast D018270||carcinoma mammary ductal D018270||carcinomas infiltrating duct D018270||carcinomas mammary ductal D018270||invasive ductal carcinoma breast D018270||mammary ductal carcinoma D018270||mammary ductal carcinomas 611096|C567013||mental retardation autosomal recessive 10 611096|C567013||mental retardation autosomal recessive 20 611096|C567013||mrt10 611096|C567013||mrt20 D018273||carcinoma islet cell D018273||carcinomas islet cell D018273||islet cell carcinoma D018273||islet cell carcinomas D018273||islet cell tumor malignant C564513|300436||mental retardation x linked 46 C564513|300436||mrx46 613507||glycogen storage disease xv 613507||glycogenin deficiency 613507||gsd15 613507||gsd xv 613507||gyg1 deficiency 613508||sodium serum level quantitative trait locus 1 613508||hyponatremia included 613508||ssqtl1 C537113|308940||leiomyomatosis esophageal and vulval with nephropathy C537113|308940||alport syndrome and diffuse leiomyomatosis C537113|308940||alport syndrome with diffuse leiomyomatosis C537113|308940||ats dl C537113|308940||chromosome xq22 3 centromeric deletion syndrome C537113|308940||diffuse leiomyomatosis in alport syndrome C537113|308940||diffuse leiomyomatosis with alport syndrome C537113|308940||dl ats C537113|308940||leiomyomatosis diffuse with alport syndrome D031249||erdheim chester disease D031249||granulomatosis lipid D031249||lipid granulomatosis D018268||adrenocortical carcinoma D018268||adrenal cortical carcinoma D018268||adrenal cortical carcinomas D018268||adrenocortical carcinomas D018268||carcinoma adrenal cortical D018268||carcinoma adrenocortical D018268||carcinomas adrenal cortical D018268||carcinomas adrenocortical D018267||carcinoma acinar cell D018267||acinar carcinoma D018267||acinar carcinomas D018267||acinar cell adenocarcinoma D018267||acinar cell adenocarcinomas D018267||acinar cell carcinoma D018267||acinar cell carcinomas D018267||acinic cell adenocarcinoma D018267||acinic cell adenocarcinomas D018267||acinic cell carcinoma D018267||acinic cell carcinomas D018267||acinic cell tumor D018267||acinic cell tumors D018267||adenocarcinoma acinar cell D018267||adenocarcinoma acinic cell D018267||adenocarcinomas acinar cell D018267||adenocarcinomas acinic cell D018267||carcinoma acinar D018267||carcinoma acinic cell D018267||carcinomas acinar D018267||carcinomas acinar cell D018267||carcinomas acinic cell D018267||serous acinar adenoma D018267||tumor acinic cell D018267||tumors acinic cell D057831||lemierre syndrome D057831||disease lemierre D057831||disease lemierre apos s D057831||lemierre disease D057831||lemierre apos s disease D057831||lemierres disease D057831||lemierre apos s syndrome D057831||lemierres syndrome D057831||postanginal sepses D057831||postanginal sepsis D057831||sepses postanginal D057831||sepsis postanginal D057831||syndrome lemierre D057831||syndrome lemierre apos s D018269||carcinoma endometrioid D018269||adenocarcinoma endometrioid D018269||adenocarcinomas endometrioid D018269||carcinomas endometrioid D018269||endometrioid adenocarcinoma D018269||endometrioid adenocarcinomas D018269||endometrioid carcinoma D018269||endometrioid carcinomas 248250|C537153||hypomagnesemia primary 248250|C537153||homg3 248250|C537153||hypomagnesemia 3 renal 248250|C537153||hypomagnesemia familial with hypercalciuria and nephrocalcinosis 248250|C537153||hypomagnesemia familial with hypercalciuria and nephrocalcinosis hypercalciuria childhood self limiting included 248250|C537153||hypomagnesemia isolated renal 248250|C537153||hypomagnesemia primary due to defect in renal tubular transport of magnesium 248250|C537153||magnesium defect in renal tubular transport of D018286||carcinoma giant cell D018286||carcinomas giant cell D018286||cell carcinoma giant D018286||cell carcinomas giant D018286||giant cell carcinoma D018286||giant cell carcinomas D018285||klatskin apos s tumor D018285||klatskins tumor D018285||klatskin tumor D018285||tumor klatskin apos s 157600||mirror movements 1 157600||bimanual synergia 157600||mirror movements congenital 157600||mrmv1 608423|C564242||muscular dystrophy limb girdle type 1f 608423|C564242||lgmd1f D018287||carcinoma large cell D018287||carcinomas large cell D018287||cell carcinoma large D018287||cell carcinomas large D018287||large cell carcinoma D018287||large cell carcinomas 601518|C537243||prostate cancer hereditary 1 601518||hpc1 601518||prca1 D018282||cystadenocarcinoma mucinous D018282||cystadenocarcinomas mucinous D018282||mucinous cystadenocarcinoma D018282||mucinous cystadenocarcinomas D018281||cholangiocarcinoma D018281||cholangiocarcinomas D018281||cholangiocellular carcinoma D018284||cystadenocarcinoma serous D018284||cystadenocarcinomas serous D018284||serous cystadenocarcinoma D018284||serous cystadenocarcinomas D018283||cystadenocarcinoma papillary D018283||cystadenocarcinomas papillary D018283||papillary cystadenocarcinoma D018283||papillary cystadenocarcinomas C536642|270700||spastic paraplegia 15 autosomal recessive C536642|270700||kjellin syndrome C536642|270700||recessive spastic paraplegia with retinal degeneration C536642|270700||spastic paraplegia and retinal degeneration C536642|270700||spg15 270100||htx5 270100||siv D018280||carcinoma skin appendage D018280||appendage carcinoma skin D018280||appendage carcinomas skin D018280||carcinomas skin appendage D018280||skin appendage carcinoma D018280||skin appendage carcinomas D015324|266150||pyruvate carboxylase deficiency disease D015324|266150||ataxia with lactic acidosis 2 D015324|266150||ataxia with lactic acidosis ii D015324|266150||ataxia with lactic acidosis type ii D015324|266150||deficiency disease pyruvate carboxylase D015324|266150||deficiency pyruvate carboxylase D015324|266150||lactic acidosis with ataxia type ii D015324|266150||pc deficiency D015324|266150||pyruvate carboxylase deficiency D015324|266150||type ii ataxia with lactic acidosis D043202||steroid metabolism inborn errors D043202||congenital errors of steroid metabolism D043202||inborn errors of steroid metabolism D043202||steroid metabolic diseases inborn D043204||mineralocorticoid excess syndrome apparent D043204||apparent mineralocorticoid excess syndrome 613502||agammaglobulinemia 4 autosomal recessive 613502||agammaglobulinemia autosomal recessive due to blnk defect 613502||agm4 C566826|168500||parietal foramina C566826|168500||catlin marks C566826|168500||cranium bifidum hereditary C566826|168500||cranium bifidum hereditary parietal foramina 1 included C566826|168500||cranium bifidum occultum C566826|168500||enlarged parietal foramina C566826|168500||foramina parietalia permagna C566826|168500||fpp C566826|168500||parietal foramina symmetric C566826|168500||pfm C566826|168500||pfm1 included D003456|219050||cryptorchidism D003456|219050||abdominal cryptorchidism D003456|219050||bilateral cryptorchidism D003456|219050||cryptorchidism abdominal D003456|219050||cryptorchidism bilateral D003456|219050||cryptorchidism inguinal D003456|219050||cryptorchidism unilateral D003456|219050||cryptorchidism unilateral or bilateral D003456|219050||cryptorchism D003456|219050||inguinal cryptorchidism D003456|219050||testes undescended D003456|219050||testis undescended D003456|219050||undescended testes D003456|219050||undescended testis D003456|219050||unilateral cryptorchidism D016891|600666||polycystic kidney autosomal dominant D016891|600666||adpkd D016891|600666||adult polycystic kidney disease D016891|600666||adult polycystic kidney disease type 1 D016891|600666||adult polycystic kidney disease type 2 D016891|600666||apkd2 D016891|600666||apkd3 D016891|600666||autosomal dominant polycystic kidney D016891|600666||kidney polycystic autosomal dominant D016891|600666||pkd2 D016891|600666||pkd3 D016891|600666||polycystic kidney disease 2 D016891|600666||polycystic kidney disease 3 D016891|600666||polycystic kidney disease 3 autosomal dominant D016891|600666||polycystic kidney disease adult D016891|600666||polycystic kidney disease adult type 2 D016891|600666||polycystic kidney disease adult type ii D016891|600666||polycystic kidney disease adult type iii D016891|600666||polycystic kidney disease autosomal dominant D016891|600666||polycystic kidney disease type 2 D016891|600666||polycystic kidney disease type 3 D016891|600666||polycystic kidney type 1 autosomal dominant disease D016891|600666||polycystic kidney type 2 autosomal dominant disease D018279||carcinoma signet ring cell D018279||signet ring cell carcinoma D018278||carcinoma neuroendocrine D018278||carcinomas neuroendocrine D018278||neuroendocrine carcinoma D018278||neuroendocrine carcinomas D017042||phenylketonuria maternal D017042||in phenylketonuria pregnancy D017042||in phenylketonurias pregnancy D017042||maternal phenylalanine hydroxylase deficiency disease D017042||maternal phenylketonuria D017042||phenylalanine hydroxylase deficiency disease maternal D017042||phenylketonuria pregnancy in D017042||phenylketonurias pregnancy in D017042||pku maternal D017042||pregnancy in phenylketonuria D017042||pregnancy in phenylketonurias D017043||chalazion D017043||chalazia D017043||cyst meibomian D017043||meibomian cyst C563287||prepapillary vascular loops C563287||preretinal vascular loops D018376||cardiovascular abnormalities D018376||abnormalities cardiovascular D018376||abnormality cardiovascular D018376||cardiovascular abnormality D018370||leukocyte adhesion deficiency syndrome D018370||deficiency syndrome leukocyte adhesion D018370||deficiency syndromes leukocyte adhesion D018370||leukocyte adhesion deficiency syndromes D018370||syndrome leukocyte adhesion deficiency D018370||syndromes leukocyte adhesion deficiency 600084|C564004||macrocytosis familial D005058||eunuchism D005058||eunuchoidism D005058||hypogonadism male D006396||hematemesis D006396||hematemeses D057971||anterior capsular rupture ocular 278000|C531854||lysosomal acid lipase deficiency 278000|C531854||acid cholesteryl ester hydrolase deficiency type 2 278000|C531854||acid lipase disease 278000|C531854||cesd 278000|C531854||cholesterol ester hydrolase deficiency 278000|C531854||cholesterol ester hydrolase deficiency wolman disease included 278000|C531854||lal deficiency 278000|C531854||lipa deficiency D006394||hemangiosarcoma D006394||angiosarcoma D006394||angiosarcomas D006394||hemangiosarcomas D057973||dent disease D057973||dent apos s disease D057973||dents disease D057973||disease dent D057973||disease dents D057973||disease dent apos s D006395||hemarthrosis D006395||hemarthroses C565701|610212||deafness autosomal recessive 66 C565701|610212||dfnb66 D006392||hemangioma cavernous D006392||angioma cavernous D006392||cavernous angioma D006392||cavernous hemangioma D006392||cavernous hemangiomas D006392||hemangiomas cavernous D006392||hemangiomas strawberry D006392||hemangioma strawberry D006392||strawberry hemangioma D006392||strawberry hemangiomas D006393||hemangiopericytoma D006393||hemangiopericytomas D006390||hemangioendothelioma D006390||endotheliomas vascular D006390||endothelioma vascular D006390||hemangio endothelioma D006390||hemangioendotheliomas D006390||hemangio endotheliomas D006390||vascular endothelioma D006390||vascular endotheliomas D006391||hemangioma D006391||angioma D006391||chorangioma D006391||chorangiomas D006391||chorioangioma D006391||chorioangiomas D006391||hemangioma histiocytoid D006391||hemangioma intramuscular D006391||hemangiomas D006391||hemangiomas histiocytoid D006391||hemangiomas intramuscular D006391||histiocytoid hemangioma D006391||histiocytoid hemangiomas D006391||intramuscular hemangioma D006391||intramuscular hemangiomas C563291||multiple epiphyseal dysplasia with robin phenotype C563291||epiphyseal dysplasia multiple with robin phenotype D056647||systemic vasculitis D056647||systemic vasculitides D056647||vasculitides systemic D056647||vasculitis systemic C563290||dyssegmental dysplasia with glaucoma D056648||anti neutrophil cytoplasmic antibody associated vasculitis D056648||anca associated vasculitide D056648||anca associated vasculitides D056648||anca associated vasculitis D056648||pauci immune vasculitides D056648||pauci immune vasculitis D056648||vasculitide anca associated D056648||vasculitides anca associated D056648||vasculitides pauci immune D056648||vasculitis anca associated D056648||vasculitis pauci immune D019698||hepatitis c chronic D019698||chronic hepatitis c D018366||vasculitis leukocytoclastic cutaneous D018366||allergic cutaneous angiitides D018366||allergic cutaneous angiitis D018366||allergic cutaneous vasculitides D018366||allergic cutaneous vasculitis D018366||allergic vasculitides cutaneous D018366||allergic vasculitis cutaneous D018366||angiitides allergic cutaneous D018366||angiitides cutaneous leukocytoclastic D018366||angiitides hypersensitivity D018366||angiitis allergic cutaneous D018366||angiitis cutaneous leukocytoclastic D018366||angiitis hypersensitivity D018366||cutaneous allergic vasculitides D018366||cutaneous allergic vasculitis D018366||cutaneous angiitides allergic D018366||cutaneous angiitis allergic D018366||cutaneous leukocytoclastic angiitides D018366||cutaneous leukocytoclastic angiitis D018366||cutaneous leukocytoclastic vasculitides D018366||cutaneous leukocytoclastic vasculitis D018366||cutaneous vasculitides allergic D018366||cutaneous vasculitis allergic D018366||hypersensitivity angiitides D018366||hypersensitivity angiitis D018366||hypersensitivity vasculitides D018366||hypersensitivity vasculitis D018366||leukocytoclastic angiitides cutaneous D018366||leukocytoclastic angiitis cutaneous D018366||leukocytoclastic vasculitides cutaneous D018366||leukocytoclastic vasculitis cutaneous D018366||vasculitides allergic cutaneous D018366||vasculitides cutaneous allergic D018366||vasculitides cutaneous leukocytoclastic D018366||vasculitides hypersensitivity D018366||vasculitis allergic cutaneous D018366||vasculitis cutaneous allergic D018366||vasculitis cutaneous leukocytoclastic D018366||vasculitis hypersensitivity D017036||epilepsia partialis continua D017036||chronic progressive epilepsia partialis continua D017036||epilepsia partialis continua chronic progressive D017036||epilepsies kojevnikov apos s D017036||epilepsy kojevnikov apos s D017036||epilepsy kojewnikov apos s D017036||kojevnikov epilepsy D017036||kojevnikov apos s epilepsies D017036||kojevnikov apos s epilepsy D017036||kojewnikov epilepsy D017036||kojewnikov apos s epilepsy D017036||kojewnikow apos s syndrome D017036||kojewnikow syndrome D017036||kozhevnikov apos s syndrome D017036||kozhevnikov syndrome D017036||kozhevnikow syndrome progressive variant D017036||progressive variant of kozhevnikow syndrome D017036||syndrome kojewnikow D017036||syndrome kojewnikow apos s D017036||syndrome kozhevnikov D017036||syndrome kozhevnikov apos s C563294||cataract congenital blue dot type 2 C563293||ectopia lentis spontaneous filtering blebs and craniofacial dysmorphism 193200||vitiligo associated multiple autoimmune disease susceptibility 6 193200||vamas6 C563760|609257||myopia 8 C563760|609257||myp8 C563296||microcephaly retinitis pigmentosa and sutural cataract D018382||thyroid hormone resistance syndrome D018382||generalized resistance to thyroid hormone D018382||generalized thyroid hormone resistance D018382||hormone resistance thyroid D018382||refetoff dewind degroot syndrome D018382||resistance thyroid hormone D018382||syndrome refetoff D018382||syndrome refetoff dewind degroot D018382||thyroid hormone resistance C565752|604765||cardiomyopathy dilated 1i C565752|604765||cmd1i C536641|162091||schwannomatosis C536641|162091||neurilemmomatosis congenital cutaneous C536641|162091||schwannomatosis 1 C536641|162091||swnts1 115700||cataract 4 multiple types 115700||caca 115700||cataract 4 multiple types with or without microcornea 115700||cataract nonnuclear polymorphic congenital 115700||cca3 115700||ctrct4 115700||pcc C537617|261540||krause kivlin syndrome C537617|261540||krause van schooneveld kivlin syndrome C537617|261540||peters anomaly short limb dwarfism syndrome C537617|261540||peters anomaly with short limb dwarfism C537617|261540||peters plus syndrome C537617|261540||peters apos plus syndrome D005067||euthyroid sick syndromes D005067||euthyroid sick syndrome D005067||high t4 syndrome D005067||high t4 syndromes D005067||low t3 and low t4 syndrome D005067||low t3 high t4 syndrome D005067||low t3 low t4 syndrome D005067||low t3 syndrome D005067||non thyroidal illness syndrome D005067||sick euthyroid syndrome D005067||syndrome non thyroidal illness D005067||syndrome sick euthyroid D005067||syndromes non thyroidal illness D006398||hematocele D006398||hematoceles D006398||hematocele scrotal D006398||hematoceles scrotal D006398||hematoceles testicular D006398||hematocele testicular D006398||scrotal hematocele D006398||scrotal hematoceles D006398||testicular hematocele D006398||testicular hematoceles 153640|C535507||myh9 related disorders 153640|C535507||alport syndrome with leukocyte inclusions and macrothrombocytopenia 153640|C535507||alport syndrome with macrothrombocytopenia 153640|C535507||alport syndrome with macrothrombocytopenia formerly 153640|C535507||apsm formerly 153640|C535507||autosomal dominant myh9 spectrum disorders 153640|C535507||bdplt6 153640|C535507||bleeding disorder platelet type 6 153640|C535507||dohle leukocyte inclusions with giant platelets 153640|C535507||epstein syndrome 153640|C535507||fechtner apos s syndrome 153640|C535507||fechtner syndrome 153640|C535507||ftns 153640|C535507||macrothrombocytopathy nephritis and deafness 153640|C535507||macrothrombocytopathy nephritis deafness and leukocyte inclusions 153640|C535507||macrothrombocytopenia nephritis and deafness 153640|C535507||macrothrombocytopenia nephritis deafness and leukocyte inclusions 153640|C535507||macrothrombocytopenia with dispersed leukocytic inclusions 153640|C535507||macrothrombocytopenia with leukocyte inclusions 153640|C535507||may hegglin anomaly 153640|C535507||mha 153640|C535507||myh9 gene related autosomal macrothrombocytopenias 153640|C535507||myh9rd 153640|C535507||myh9 related disease 153640|C535507||myh9 related disorder 153640|C535507||myh9 related macrothrombocytopenias 153640|C535507||sebastian platelet syndrome 153640|C535507||sebastian syndrome D006399||hematocolpos 227300||factor v and factor viii combined deficiency of 1 227300||f5f8d1 D056650||vulvodynia D056650||generalized vulvodynia D056650||generalized vulvodynias D056650||vestibulodynia D056650||vestibulodynias D056650||vulvodynia generalized D056650||vulvodynias D056650||vulvodynias generalized D005077||exanthema subitum D005077||disease sixth D005077||roseola infantum D005077||sixth disease D005076||exanthema D005076||exanthem D005076||rash D005076||rash skin D005076||skin rash D056653||rheumatoid vasculitis D056653||rheumatoid vasculitides D056653||vasculitides rheumatoid D056653||vasculitis rheumatoid C566094|186000||synpolydactyly 1 C566094|186000||spd1 C566094|186000||syndactyly type ii C566094|186000||syndactyly type ii synpolydactyly with foot anomalies included D029021||peste des petits ruminants D029021||pseudorinderpest D015464|608232||leukemia myelogenous chronic bcr abl positive D015464|608232||acml included D015464|608232||chronic granulocytic leukemia D015464|608232||chronic granulocytic leukemias D015464|608232||chronic myelocytic leukemia D015464|608232||chronic myelocytic leukemias D015464|608232||chronic myelogenous leukemia D015464|608232||chronic myelogenous leukemias D015464|608232||chronic myeloid leukemia D015464|608232||chronic myeloid leukemias D015464|608232||cml D015464|608232||granulocytic leukemia chronic D015464|608232||granulocytic leukemias chronic D015464|608232||leukemia chronic granulocytic D015464|608232||leukemia chronic myelocytic D015464|608232||leukemia chronic myelogenous D015464|608232||leukemia chronic myelogenous leukemia chronic myeloid atypical included D015464|608232||leukemia chronic myeloid D015464|608232||leukemia granulocytic chronic D015464|608232||leukemia myelocytic chronic D015464|608232||leukemia myelogenous chronic D015464|608232||leukemia myelogenous ph1 positive D015464|608232||leukemia myeloid chronic D015464|608232||leukemia myeloid ph1 positive D015464|608232||leukemia myeloid philadelphia positive D015464|608232||leukemia ph1 positive myelogenous D015464|608232||leukemia ph1 positive myeloid D015464|608232||leukemia philadelphia positive myeloid D015464|608232||leukemias chronic granulocytic D015464|608232||leukemias chronic myelocytic D015464|608232||leukemias chronic myelogenous D015464|608232||leukemias chronic myeloid D015464|608232||leukemias ph1 positive myelogenous D015464|608232||leukemias ph1 positive myeloid D015464|608232||leukemias philadelphia positive myeloid D015464|608232||myelocytic leukemia chronic D015464|608232||myelocytic leukemias chronic D015464|608232||myelogenous leukemia chronic D015464|608232||myelogenous leukemia ph1 positive D015464|608232||myelogenous leukemias chronic D015464|608232||myelogenous leukemias ph1 positive D015464|608232||myeloid leukemia chronic D015464|608232||myeloid leukemia ph1 positive D015464|608232||myeloid leukemia philadelphia positive D015464|608232||myeloid leukemias chronic D015464|608232||myeloid leukemias ph1 positive D015464|608232||myeloid leukemias philadelphia positive D015464|608232||ph1 positive myelogenous leukemia D015464|608232||ph1 positive myelogenous leukemias D015464|608232||ph1 positive myeloid leukemia D015464|608232||ph1 positive myeloid leukemias D015464|608232||philadelphia positive myeloid leukemia D015464|608232||philadelphia positive myeloid leukemias 611097|C567012||mental retardation autosomal recessive 11 611097|C567012||mrt11 C564114|308930||leigh syndrome x linked 608931||cms1d 608931||cms1e included 608931||cms id myasthenic syndrome congenital with facial dysmorphism associated with acetylcholine receptor deficiency included 608931||cms ie included 608931||myasthenic syndrome congenital ie included C538270|602483||auriculo condylar syndrome C538270|602483||arcnd1 C538270|602483||auriculocondylar syndrome C538270|602483||auriculocondylar syndrome 1 C538270|602483||ears prominent and constricted C538270|602483||question mark ear C538270|602483||question mark ears syndrome C538270|602483||question mark ear syndrome D018352||coronavirus infections D018352||coronavirus infection D018352||infection coronavirus D018352||infections coronavirus C565711|610170||kyphoscoliosis 1 C565711|610170||kypsc1 D018354||alphavirus infections D018354||alphavirus infection D018354||infection alphavirus D018354||infections alphavirus C564595||mammographic density D018353||rhabdoviridae infections D018353||infection rhabdoviridae D018353||infections rhabdoviridae D018353||rhabdoviridae infection C567556|612838||brugada syndrome 5 C567556|612838||brgda5 C567556|612838||cardiac conduction defect nonspecific included C563268||ectopia lentis with ectopia of pupil C563268||ectopia lentis et pupillae C562725|612423||prekallikrein deficiency C562725|612423||fletcher factor deficiency C562725|612423||pkk deficiency D006374||helminthiasis animal D006374||animal helminthiases D006374||animal helminthiasis D006374||helminthiases animal D055331||adenomyoepithelioma D055331||adenomyoepitheliomas C566157|116300||cataract nuclear diffuse nonprogressive C566157|116300||cataract 30 C566157|116300||cataract 30 pulverulent C566157|116300||ctrct30 D006373||helminthiasis D006373||helminthiases D006373||infection nematomorpha D006373||infections nematomorpha D006373||nematomorpha infection D006373||nematomorpha infections 304020||cone rod dystrophy x linked 1 304020||cod1 304020||cone dystrophy 1 x linked D054000||nevus sebaceous of jadassohn D054000||epidermal nevus verrucous D054000||feuerstein mims syndrome D054000||inflammatory linear verrucose epidermal nevus D054000||inflammatory linear verrucous epidermal naevus D054000||jadassohn nevus phakomatosis D054000||jadassohn nevus sebaceus D054000||jadassohn sebaceous nevus D054000||linear sebaceous nevus D054000||linear sebaceous nevus syndrome D054000||linear verrucous epidermal nevus D054000||nevus linear sebaceous D054000||nevus phakomatoses organoid D054000||nevus phakomatosis jadassohn D054000||nevus phakomatosis organoid D054000||nevus sebaceus of jadassohn D054000||nevus verrucous D054000||nevus verrucous epidermal D054000||organoid nevus phakomatoses D054000||organoid nevus phakomatosis D054000||phakomatoses organoid nevus D054000||phakomatosis jadassohn nevus D054000||phakomatosis organoid nevus D054000||schimmelpenning feuerstein mims syndrome D054000||schimmelpenning syndrome D054000||sebaceous nevus linear D054000||sebaceous nevus of jadassohn D054000||sebaceous nevus syndrome linear D054000||syndrome feuerstein mims D054000||syndrome schimmelpenning D054000||syndrome schimmelpenning feuerstein mims D054000||verrucous epidermal nevus D054000||verrucous nevus D056660||hereditary autoinflammatory diseases D056660||autoinflammation disease hereditary D056660||autoinflammation diseases hereditary D056660||autoinflammatory disease hereditary D056660||autoinflammatory diseases hereditary D056660||disease hereditary autoinflammation D056660||disease hereditary autoinflammatory D056660||disease reimann periodic D056660||diseases hereditary autoinflammation D056660||diseases hereditary autoinflammatory D056660||disease siegal cattan mamou D056660||diseases reimann periodic D056660||fever hereditary recurrent D056660||fevers hereditary recurrent D056660||hereditary autoinflammation disease D056660||hereditary autoinflammation diseases D056660||hereditary autoinflammatory disease D056660||hereditary periodic fever syndromes D056660||hereditary recurrent fever D056660||hereditary recurrent fevers D056660||periodic disease reimann D056660||periodic diseases reimann D056660||recurrent fever hereditary D056660||recurrent fevers hereditary D056660||reimann periodic disease D056660||reimann periodic diseases D056660||siegal cattan mamou disease 607143|C535745||congenital disorder of glycosylation type 1g 607143|C535745||cdg1g 607143|C535745||cdgig 607143|C535745||cdg ig 607143|C535745||congenital disorder of glycosylation type ig 605361|C537196||spinocerebellar ataxia 14 605361|C537196||sca14 D018344||t lymphocytopenia idiopathic cd4 positive D018344||cd4 positive t lymphocytopenia idiopathic D018344||cd4 t lymphocytopenia D018344||cd4 t lymphocytopenia idiopathic D018344||cd4 t lymphocytopenias D018344||idiopathic cd4 positive t lymphocytopenia D018344||idiopathic cd4 t lymphocytopenia D018344||t lymphocytopenia cd4 D018344||t lymphocytopenia idiopathic cd4 D018344||t lymphocytopenias cd4 254900||epilepsy progressive myoclonic 4 with or without renal failure 254900||amrf 254900||epm4 D018347||hepadnaviridae infections D018347||hepadnaviridae infection D018347||infection hepadnaviridae D018347||infections hepadnaviridae C563270||macular corneal dystrophy type ii D019694||hepatitis b chronic D019694||chronic hepatitis b C563277||papillary thyroid microcarcinoma 239300||hyperphosphatasia with mental retardation syndrome 1 239300||hpmrs1 239300||mabry syndrome D019693||hepatitis autoimmune D019693||autoimmune chronic hepatitides D019693||autoimmune chronic hepatitis D019693||autoimmune hepatitides D019693||autoimmune hepatitis D019693||chronic hepatitides autoimmune D019693||chronic hepatitis autoimmune D019693||hepatitides autoimmune D019693||hepatitides autoimmune chronic D019693||hepatitis autoimmune chronic C563276||osteofibrous dysplasia D018365||neoplasm residual D018365||cancer residual D018365||cancers residual D018365||disease minimal residual D018365||disease residual minimal D018365||diseases minimal residual D018365||diseases residual minimal D018365||minimal disease residual D018365||minimal diseases residual D018365||minimal residual disease D018365||minimal residual diseases D018365||neoplasms residual D018365||residual cancer D018365||residual cancers D018365||residual disease minimal D018365||residual diseases minimal D018365||residual minimal disease D018365||residual minimal diseases D018365||residual neoplasm D018365||residual neoplasms D018365||residual tumor D018365||residual tumors D018365||tumor residual D018365||tumors residual D017034||epilepsy frontal lobe D017034||anterior fronto polar epilepsies D017034||anterior fronto polar epilepsy D017034||benign frontal childhood epilepsy D017034||childhood benign frontal epilepsy D017034||cingulate epilepsies D017034||cingulate epilepsy D017034||epilepsies anterior fronto polar D017034||epilepsies cingulate D017034||epilepsies orbito frontal D017034||epilepsies supplementary motor D017034||epilepsy anterior fronto polar D017034||epilepsy benign frontal childhood D017034||epilepsy cingulate D017034||epilepsy opercular D017034||epilepsy orbito frontal D017034||epilepsy supplementary motor D017034||frontal epilepsy benign childhood D017034||frontal lobe epilepsies D017034||frontal lobe epilepsy D017034||fronto polar epilepsies anterior D017034||fronto polar epilepsy anterior D017034||motor epilepsies supplementary D017034||opercular epilepsies D017034||opercular epilepsy D017034||orbito frontal epilepsies D017034||orbito frontal epilepsy D017034||supplementary motor epilepsies D017034||supplementary motor epilepsy 612237|C563195||chondrosarcoma extraskeletal myxoid 612237|C563195||emc D017029||epilepsy complex partial D017029||complex partial epilepsy D017029||complex partial seizure disorder D017029||cryptogenic partial complex epilepsy D017029||disorder complex partial seizures D017029||epilepsy cryptogenic partial complex D017029||epilepsy psychic equivalent D017029||epilepsy psychomotor D017029||epilepsy symptomatic partial complex D017029||partial complex epilepsy cryptogenic D017029||partial complex epilepsy symptomatic D017029||partial epilepsy complex D017029||psychic equivalent epilepsy D017029||psychomotor epilepsy D017029||seizure disorder complex partial D017029||symptomatic partial complex epilepsy C538162|608978||meacham winn culler syndrome D019687||uterine inversion D019687||inversion of uterus D019687||inversion uterine D019687||uterus inversion C563926|608448||inflammatory bowel disease 9 C563926|608448||ibd9 D018355||rubivirus infections D018355||infection rubivirus D018355||infections rubivirus D018355||rubivirus infection D054019||immune reconstitution inflammatory syndrome D054019||disease immune reconstitution D054019||immune reconstitution disease D054019||immune reconstitution syndrome D054019||immune reconstitution syndromes D054019||immune restoration syndrome D054019||reconstitution disease immune D054019||reconstitution syndrome immune D054019||reconstitution syndromes immune D054019||restoration syndrome immune D054019||syndrome immune reconstitution D054019||syndrome immune restoration D054019||syndromes immune reconstitution D018358||neuroendocrine tumors D018358||neuroendocrine tumor D018358||tumor neuroendocrine D018358||tumors neuroendocrine D018357||respiratory syncytial virus infections D018357||infections respiratory syncytial virus D018330||nevus intradermal D018330||intradermal nevi D018330||intradermal nevus D018330||nevi intradermal C538288||10p deletion syndrome partial C538288||chromosome 10 10p partial C538288||chromosome 10 monosomy 10p C538288||chromosome 10 partial deletion short arm C538288||monosomy 10p C564574||arthrogryposis x linked type v C538287||cataract microcornea syndrome C538287||microcornea cataract syndrome D018332||nevus epithelioid and spindle cell D018332||nevus spindle cell and epithelioid D018332||nevus spitz D018332||spitz nevus 183840||spondyloarthropathy susceptibility to 2 183840||spda2 C538286||cataract hutterite type D018331||nevus spindle cell D018331||nevi spindle cell D018331||spindle cell nevi D018331||spindle cell nevus D017001||tooth demineralization D017001||demineralization tooth D017001||hypomineralizations tooth D017001||hypomineralization tooth D017001||tooth hypomineralization D017001||tooth hypomineralizations C564572||x inactivation familial skewed 2 C563241||chronic motor tics C563248||chondrodysplasia punctata autosomal dominant C563248||chondrodysplasia punctata due to vitamin k deficiency C563248||chondrodysplasia punctata due to warfarin teratogenicity C564578||bartter syndrome type 3 with hypocalciuria C563247||muscular dystrophy cardiac type C538289||chromosome 10 monosomy 10q C538289||10q deletion C538289||deletion 10q C538289||monosomy 10q C538289||terminal deletion of chromosome 10q D006349||heart valve diseases D006349||disease heart valve D006349||diseases heart valve D006349||diseases valvular heart D006349||disease valvular heart D006349||heart diseases valvular D006349||heart disease valvular D006349||heart valve disease D006349||valve disease heart D006349||valve diseases heart D006349||valvular heart disease D006349||valvular heart diseases C538280||cataract and cardiomyopathy C538280||cardiomyopathy and cataract C538280||sengers syndrome C563249||carnitine acetyltransferase deficiency D007676||kidney failure chronic D007676||chronic kidney failure D007676||chronic renal failure D007676||disease end stage kidney D007676||disease end stage renal D007676||end stage kidney disease D007676||end stage renal disease D007676||end stage renal failure D007676||esrd D007676||kidney disease end stage D007676||renal disease end stage D007676||renal failure chronic D007676||renal failure end stage D006345||heart septal defects ventricular D006345||defect intraventricular septal D006345||defects intraventricular septal D006345||defect ventricular septal D006345||intraventricular septal defect D006345||intraventricular septal defects D006345||septal defect intraventricular D006345||septal defects intraventricular D006345||septal defects ventricular D006345||septal defect ventricular D006345||ventricular septal defect D006345||ventricular septal defects C538284||cataract congenital dominant non nuclear C538284||autosomal dominant nonnuclear polymorphic congenital cataract C538284||cataract nonnuclear polymorphic congenital autosomal dominant C538284||cataract polymorphic congenital C538283||cataract ataxia deafness C538283||begeer syndrome C538283||cataract ataxia deafness retardation syndrome C538283||cataract ataxia deafness syndrome C538283||polyneuropathy cataract deafness syndrome D007674||kidney diseases D007674||disease kidney D007674||diseases kidney D007674||kidney disease D006343||heart septal defects D006343||cardiac septal defects D006343||defect heart septal D006343||defects heart septal D006343||heart septal defect D006343||septal defect heart D006343||septal defects heart C538282||cataract anterior polar dominant C538282||anterior polar cataracts 1 D006344||heart septal defects atrial D006344||atrial septal defect D006344||atrial septal defects D006344||defect atrial septal D006344||defects atrial septal D006344||ostium primum persistent D006344||ostium secundum atrial septal defect D006344||persistent ostium primum D006344||primum persistent ostium D006344||septal defect atrial D006344||septal defects atrial C538281||cataract and congenital ichthyosis C538281||syndromic cataract and congenital ichthyosis D007683||kidney tubular necrosis acute D007683||acute kidney tubular necrosis D007683||lower nephron nephroses D007683||lower nephron nephrosis D007683||nephron nephroses lower D007683||nephron nephrosis lower D007683||nephroses lower nephron D007683||nephrosis lower nephron D007681||kidney papillary necrosis D007681||necrosis kidney papillary D007681||necrosis renal medullary D007681||necrotizing renal papillitides D007681||necrotizing renal papillitis D007681||papillary necrosis kidney D007681||papillitides necrotizing renal D007681||renal medullary necrosis D007681||renal papillitides necrotizing D007681||renal papillitis necrotizing C563337|601362||digeorge syndrome velocardiofacial syndrome complex 2 C563337|601362||dgs2 D007680||kidney neoplasms D007680||cancer kidney D007680||cancer of kidney D007680||cancer of the kidney D007680||cancer renal D007680||cancers kidney D007680||cancers renal D007680||kidney cancer D007680||kidney cancers D007680||kidney neoplasm D007680||neoplasm kidney D007680||neoplasm renal D007680||neoplasms kidney D007680||neoplasms renal D007680||renal cancer D007680||renal cancers D007680||renal neoplasm D007680||renal neoplasms D018327||hutchinson apos s melanotic freckle D018327||freckle hutchinson apos s melanotic D018327||freckle melanotic D018327||freckles melanotic D018327||hutchinson melanotic freckle D018327||hutchinsons melanotic freckle D018327||lentigo maligna D018327||lentigo malignant D018327||lentigos malignant D018327||malignant lentigo D018327||malignant lentigos D018327||melanotic freckle D018327||melanotic freckle hutchinson apos s D018327||melanotic freckles D018326||nevi and melanomas D018326||melanomas and nevi D018329||nevus blue D018329||blue nevi D018329||blue nevi cellular D018329||blue nevus D018329||blue nevus cellular D018329||cellular blue nevi D018329||cellular blue nevus D018329||nevi blue D018329||nevi cellular blue D018329||nevus cellular blue D018328||melanoma amelanotic D018328||amelanotic melanoma D018328||amelanotic melanomas D018328||melanomas amelanotic D018323||hemangioendothelioma epithelioid D018323||epithelioid hemangioendothelioma D018323||epithelioid hemangioendotheliomas D018323||hemangioendotheliomas epithelioid D018322||angiofibroma D018322||angiofibromas D018325||hemangioblastoma D018325||hemangioblastoma multiple D018325||hemangioblastomas D018325||hemangioblastomas multiple D018325||multiple hemangioblastoma D018325||multiple hemangioblastomas D018324||hemangioma capillary D018324||capillary hemangioma D018324||capillary hemangiomas D018324||hemangiomas capillary D031300||retinal vasculitis D031300||vasculitis retinal C563255||microspherophakia C538299||chromosome 12 12p trisomy C538299||duplication 12p C538299||trisomy 12p C563254||presenile and senile dementia C538298||chromosome 12 ring C538298||ring chromosome 12 C537264|601277||lamellar ichthyosis type 2 C537264|601277||arci4a C537264|601277||ichthyosis congenita 2b C537264|601277||ichthyosis congenita iib C537264|601277||ichthyosis congenital autosomal recessive 4a C537264|601277||ichthyosis lamellar 2 C537264|601277||ichthyosis lamellar 2 formerly C537264|601277||icr2b C537264|601277||li2 formerly C537264|601277||type 2 lamellar ichthyosis C538297||chromosome 11q trisomy C538297||duplication 11q C538297||trisomy 11q C564583||cortical dysplasia of taylor without balloon cells C564583||cortical dysplasia of taylor dysplasia only C538296||chromosome 11q partial deletion C538296||deletion 11q partial C538296||monosomy 11q partial 613480||lymphedema hereditary ic 613480||lmph1c C563258||islet cell adenomatosis C538291||chromosome 10 trisomy 10pter p13 C538291||duplication 10pter p13 C538291||trisomy 10pter p13 C538290||chromosome 10 trisomy 10p C538290||duplication 10p C538290||trisomy 10p 613485||long qt syndrome 13 613485||lqt13 D006359||heat exhaustion D006359||collapse heat D006359||exhaustion heat D006359||heat collapse D006359||heat prostration D006359||prostration heat D006356||heartburn D006356||pyroses D006356||pyrosis C538295||chromosome 11p partial deletion C538295||deletion 11p 11p12 C538295||deletion 11p13 C538295||monosomy 11 p11 p12 C538295||partial deletion 11p D020642||acatalasia D020642||acatalasemia D020642||acatalasemia japanese type D020642||acatalasemia swiss type D020642||catalase deficiencies D020642||catalase deficiency D020642||deficiencies catalase D020642||deficiency catalase D020642||disease takahara D020642||disease takahara apos s D020642||hypocatalasemia D020642||hypocatalasia D020642||japanese type acatalasemia D020642||swiss type acatalasemia D020642||takahara disease D020642||takahara apos s disease D020642||takaharas disease D006357||heartwater disease D006357||disease heartwater C538294||chromosome 11 partial trisomy 11q C538294||11q partial trisomy C538294||chromosome 11 partial trisomy 11q13 qter C538294||chromosome 11 partial trisomy 11q21 qter C538294||chromosome 11 partial trisomy 11q23 qter C538294||distal trisomy 11q 613489||congenital disorder of glycosylation type iij 613489||cdg2j 613489||cdgiij 613489||cdg iij C538293||chromosome 11 deletion 11p C538293||deletion 11p C538293||monosomy 11p C538292||chromosome 10 uniparental disomy of C538292||mosaic trisomy 10 C538292||uniparental disomy of 10 D009800|309000||oculocerebrorenal syndrome D009800|309000||cerebrooculorenal syndrome D009800|309000||cerebro oculo renal syndrome D009800|309000||deficiency phosphatidylinositol 4 5 bisphosphate 5 phosphatase D009800|309000||dystrophy oculocerebrorenal D009800|309000||lowe bickel syndrome D009800|309000||lowe disease D009800|309000||lowe oculocerebrorenal syndrome D009800|309000||lowe syndrome D009800|309000||lowe terrey maclachlan syndrome D009800|309000||ocrl D009800|309000||ocrl1 D009800|309000||oculocerebrorenal dystrophy D009800|309000||oculocerebrorenal syndrome of lowe D009800|309000||phosphatidylinositol 4 5 bisphosphate 5 phosphatase deficiency D009800|309000||renal oculocerebrodystrophy D006362||heavy chain disease D006362||franklin disease D006362||franklin apos s disease D006362||franklins disease D006362||gamma chain disease D006362||gamma chain diseases D006362||heavy chain diseases D006362||mu chain disease D006362||mu chain diseases D007691||medullary sponge kidney D007691||cacchi ricci disease D007691||cacchi ricci syndrome D007691||canalicular ectasia precalyceal D007691||canalicular ectasias precalyceal D007691||disease cacchi ricci D007691||ectasia precalyceal canalicular D007691||ectasias precalyceal canalicular D007691||kidney sponge D007691||kidneys sponge D007691||medullary sponge kidneys D007691||precalyceal canalicular ectasia D007691||precalyceal canalicular ectasias D007691||ricci disease cacchi D007691||sponge kidney D007691||sponge kidney medullary D007691||sponge kidneys D007691||sponge kidneys medullary D007691||syndrome cacchi ricci C567725|613172||cardiomyopathy dilated 1dd C567725|613172||cmd1dd D054039||onycholysis D054039||onycholyses D054039||photo onycholyses D054039||photo onycholysis C538235|103050||adenylosuccinate lyase deficiency C538235|103050||adenylosuccinase deficiency C538235|103050||adenylosuccinate lyase deficiency type 1 C538235|103050||adenylosuccinate lyase deficiency type 2 C538235|103050||adenylosuccinate lyase deficiency type 3 C538235|103050||adenylosuccinate lyase deficiency type 4 C538235|103050||adsl deficiency C538235|103050||succinylpurinemic autism D054038||posterior leukoencephalopathy syndrome D054038||leukoencephalopathy syndrome posterior D054038||leukoencephalopathy syndromes posterior D054038||posterior reversible encephalopathy syndrome D054038||reversible posterior leukoencephalopathy syndrome D054038||syndrome posterior leukoencephalopathy D054038||syndromes posterior leukoencephalopathy 600176||pachygyria with mental retardation seizures and arachnoid cysts C563262||corneal dystrophy central type C563262||central cloudy dystrophy of francois D018333||odontogenic cyst calcifying D018333||calcifying odontogenic cyst D018333||calcifying odontogenic cysts D018333||cyst calcifying odontogenic D018333||cysts calcifying odontogenic D018333||odontogenic cysts calcifying C564591|143470||cholesteryl ester transfer protein deficiency C564591||cetp deficiency C564591|143470||hyperalphalipoproteinemia D018335||rhabdoid tumor D018335||rhabdoid tumors D018335||tumor rhabdoid D018335||tumors rhabdoid C535289|129400||rapp hodgkin syndrome C535289|129400||cleft lip with or without cleft palate nonsyndromic 8 included C535289|129400||ectodermal dysplasia anhidrotic with cleft lip palate C535289|129400||ectodermal dysplasia anhidrotic with cleft lip palate orofacial cleft 8 included C535289|129400||ofc8 included C563221||mydriasis congenital D018310||sertoli leydig cell tumor D018310||androblastoma D018310||androblastomas D018310||arrhenoblastoma D018310||arrhenoblastomas D018310||cell tumor sertoli leydig D018310||cell tumors sertoli leydig D018310||sertoli leydig cell tumors D018310||tumor sertoli leydig cell D018310||tumors sertoli leydig cell C564557||radioulnar synostosis radial ray abnormalities and severe malformations in the male C565881||cardiomyopathy associated with myopathy and sudden death C565882||cardiac valvular defect developmental 613470||hemolytic anemia nonspherocytic due to glucose phosphate isomerase deficiency C565883||cardiac septal defects with coarctation of the aorta 613471||reynolds syndrome 613471||primary biliary cirrhosis scleroderma raynaud disease and telangiectasia C564554|300244||terminal osseous dysplasia and pigmentary defects C564554|300244||osseous dysplasia digital with facial pigmentary defects and multiple frenula C565884||cardiac lipidosis familial D004535|130050||ehlers danlos syndrome D004535|130050||cutis elastica D004535|130050||danlos disease ehlers D004535|130050||disease ehlers danlos D004535|130050||eds4 D004535|130050||eds iv D004535|130050||ehlers danlos disease D004535|130050||ehlers danlos syndrome arterial type D004535|130050||ehlers danlos syndrome ecchymotic type D004535|130050||ehlers danlos syndrome sack barabas type D004535|130050||ehlers danlos syndrome type 4 autosomal dominant D004535|130050||ehlers danlos syndrome type iv D004535|130050||ehlers danlos syndrome type iv autosomal dominant D004535|130050||ehlers danlos syndrome vascular type D004535|130050||syndrome ehlers danlos D006327||heart block D006327||atrioventricular dissociation D006327||atrioventricular dissociations D006327||auriculo ventricular dissociation D006327||auriculo ventricular dissociations D006327||a v dissociation D006327||a v dissociations D006327||block heart D006327||blocks heart D006327||dissociation atrioventricular D006327||dissociation auriculo ventricular D006327||dissociation a v D006327||dissociations atrioventricular D006327||dissociations auriculo ventricular D006327||dissociations a v D006327||heart blocks D008989||monieziasis D008989||monieziases D006323||heart arrest D006323||arrest cardiac D006323||arrest cardiopulmonary D006323||arrest heart D006323||asystole D006323||asystoles D006323||cardiac arrest D006323||cardiopulmonary arrest 613477||epileptic encephalopathy early infantile 5 613477||eiee5 D006322||heart aneurysm D006322||aneurysm cardiac D006322||aneurysm heart D006322||aneurysms cardiac D006322||aneurysms heart D006322||cardiac aneurysm D006322||cardiac aneurysms D006322||heart aneurysms D014898|277700||werner syndrome D014898|277700||adult premature aging syndrome D014898|277700||adult progeria D014898|277700||progeria adult D014898|277700||syndrome werner D014898|277700||syndrome werners D014898|277700||syndrome werner apos s D014898|277700||werner apos s syndrome D014898|277700||werners syndrome D014898|277700||wrn C536487|601067||usher syndrome type 1d C536487|601067||ush1d C536487|601067||ush1d f cdh23 pcdh15 digenic included C536487|601067|C563400||usher syndrome type id C536487|601067||usher syndrome type id f cdh23 pcdh15 digenic included D006330||heart defects congenital D006330||abnormalities heart D006330||abnormality heart D006330||congenital heart defect D006330||congenital heart defects D006330||defect congenital heart D006330||defects congenital heart D006330||heart abnormalities D006330||heart abnormality D006330||heart defect congenital D006330||heart malformation of D008992||monkey diseases D008992||disease monkey D008992||diseases monkey D008992||monkey disease D007662||ketosis D007662||acetonemia D007662||acetonemias D007662||acetonuria D007662||acetonurias D007662||ketoacidemia D007662||ketoacidemias D007662||ketoacidoses D007662||ketoacidoses metabolic D007662||ketoacidosis D007662||ketoacidosis metabolic D007662||ketoaciduria D007662||ketoacidurias D007662||ketonemia D007662||ketonemias D007662||ketonuria D007662||ketonurias D007662||ketoses metabolic D007662||ketosis metabolic D007662||metabolic ketoacidoses D007662||metabolic ketoacidosis D007662||metabolic ketoses D007662||metabolic ketosis D006331||heart diseases D006331||cardiac disease D006331||cardiac diseases D006331||disease cardiac D006331||disease heart D006331||diseases cardiac D006331||diseases heart D006331||heart disease D018309||neoplasms gonadal tissue D018309||gonadal tissue neoplasm D018309||gonadal tissue neoplasms D018309||neoplasm gonadal tissue D018309||tissue neoplasm gonadal D018309||tissue neoplasms gonadal D055370||lung injury D055370||chronic lung injuries D055370||chronic lung injury D055370||injuries lung D055370||injuries pulmonary D055370||injury lung D055370||injury pulmonary D055370||lung injuries D055370||lung injuries chronic D055370||lung injury chronic D055370||pulmonary injuries D055370||pulmonary injury D018308||papilloma inverted D018308||inverted papilloma D018308||inverted papillomas D018308||papillomas inverted D055371||acute lung injury D055371||acute lung injuries D055371||lung injuries acute D055371||lung injury acute D019636||neurodegenerative diseases D019636||degenerative condition neurologic D019636||degenerative conditions neurologic D019636||degenerative diseases central nervous system D019636||degenerative diseases nervous system D019636||degenerative diseases neurologic D019636||degenerative diseases spinal cord D019636||degenerative neurologic disease D019636||degenerative neurologic diseases D019636||degenerative neurologic disorder D019636||degenerative neurologic disorders D019636||nervous system degenerative diseases D019636||neurodegenerative disease D019636||neurodegenerative disorder D019636||neurodegenerative disorders D019636||neurologic degenerative condition D019636||neurologic degenerative conditions D019636||neurologic degenerative disease D019636||neurologic degenerative diseases D019636||neurologic disease degenerative D019636||neurologic diseases degenerative D019636||neurologic disorder degenerative D019636||neurologic disorders degenerative 601495||agammaglobulinemia 1 autosomal recessive 601495||agammaglobulinemia autosomal recessive due to ighm defect 601495||agm1 D018305||ganglioneuroblastoma D018305||ganglioneuroblastomas D018304||esthesioneuroblastoma olfactory D018304||aesthesioneuroblastoma D018304||aesthesioneuroblastomas D018304||esthesioneuroblastoma D018304||esthesioneuroblastoma paranasal sinus nasal cavity D018304||esthesioneuroblastomas D018304||esthesioneuroblastomas olfactory D018304||neuroblastoma olfactory D018304||neuroblastomas olfactory D018304||olfactory esthesioneuroblastoma D018304||olfactory esthesioneuroblastomas D018304||olfactory neuroblastoma D018304||olfactory neuroblastomas D018304||paranasal sinus nasal cavity esthesioneuroblastoma D018307||neoplasms squamous cell D018307||cancer squamous cell D018307||cancers squamous cell D018307||cell cancer squamous D018307||cell cancers squamous D018307||cell neoplasm squamous D018307||cell neoplasms squamous D018307||neoplasm squamous cell D018307||squamous cell cancer D018307||squamous cell cancers D018307||squamous cell neoplasm D018307||squamous cell neoplasms 300613|C564473||myopia 13 300613|C564473||myopia 13 x linked 300613|C564473||myp13 D018306||neurocytoma D018306||central neurocytoma D018306||central neurocytomas D018306||neurocytoma central D018306||neurocytomas D018306||neurocytomas central 601499||rieg2 D018301||neoplasms mesothelial D018301||mesothelial neoplasm D018301||mesothelial neoplasms D018301||neoplasm mesothelial D018300||papilloma intraductal D018300||intraductal papilloma D018300||intraductal papillomas D018300||papillomas intraductal 612376|D015473||leukemia promyelocytic acute 612376|D015473||acute promyelocytic leukemia 612376|D015473||acute promyelocytic leukemias 612376|D015473||aml m3 612376|D015473||anll m3 612376|D015473||leukemia acute promyelocytic 612376|D015473||leukemia myeloid acute m3 612376|D015473||leukemia progranulocytic 612376|D015473||m3 anll 612376|D015473||myeloid leukemia acute m3 612376|D015473||progranulocytic leukemia 612376|D015473||promyelocytic leukemia acute D018303||ganglioglioma D018303||benign ganglioglioma D018303||benign gangliogliomas D018303||ganglioglioma benign D018303||ganglioglioma intracranial D018303||ganglioglioma malignant D018303||gangliogliomas D018303||gangliogliomas benign D018303||gangliogliomas intracranial D018303||gangliogliomas malignant D018303||intracranial ganglioglioma D018303||intracranial gangliogliomas D018303||malignant ganglioglioma D018303||malignant gangliogliomas D018302||neoplasms neuroepithelial D018302||astroblastoma D018302||astroblastomas D018302||ependymoastrocytoma D018302||ependymoastrocytomas D018302||gliomatosis cerebri D018302||neoplasm neuroepithelial D018302||neuroepithelial neoplasm D018302||neuroepithelial neoplasms D018302||neuroepithelial tumor D018302||neuroepithelial tumors D018302||polar spongioblastoma D018302||polar spongioblastomas D018302||spongioblastoma polar D018302||spongioblastomas polar D018302||tumor neuroepithelial D018302||tumors neuroepithelial C563233||myelocerebellar disorder C563233||ataxia pancytopenia syndrome C565896||bone dysplasia lethal holmgren type D018321||neurothekeoma D018321||myxoma nerve sheath D018321||myxomas nerve sheath D018321||nerve sheath myxoma D018321||nerve sheath myxomas D018321||neurotheceoma D018321||neurotheceomas D018321||neurothecoma D018321||neurothecomas D018321||neurothekeomas C564561||myotubular myopathy with abnormal genital development C564568||adrenal hypoplasia congenital with precocious puberty C564568||adrenal insufficiency progressive and hypogonadotropic hypogonadism C563237||cystic disease of lung C565893||brachymetapody anodontia hypotrichosis albinoidism C565893||anodontia hypotrichosis syndrome C565893||oculoosteocutaneous syndrome C565894||brachydactyly type a2 with microcephaly D007669||kidney calculi D007669||calculi kidney D007669||calculi renal D007669||calculus kidney D007669||calculus renal D007669||kidney calculus D007669||kidney stone D007669||kidney stones D007669||nephrolith D007669||renal calculi D007669||renal calculus D007669||stone kidney D007669||stones kidney D006338||heart neoplasms D006338||cancer cardiac D006338||cancer heart D006338||cancers cardiac D006338||cancers heart D006338||carcinoma cardiac D006338||carcinomas cardiac D006338||cardiac cancer D006338||cardiac cancers D006338||cardiac carcinoma D006338||cardiac carcinomas D006338||cardiac neoplasm D006338||cardiac neoplasms D006338||cardiac tumor D006338||cardiac tumors D006338||heart cancer D006338||heart cancers D006338||heart neoplasm D006338||heart tumor D006338||heart tumors D006338||intracavitary tumors of the heart D006338||myocardial tumor rhabdomyomas and fibromas D006338||myocardial tumors rhabdomyomas and fibromas D006338||neoplasm cardiac D006338||neoplasm heart D006338||neoplasms cardiac D006338||neoplasms heart D006338||primary cardiac tumors childhood D006338||tumor cardiac D006338||tumor heart D006338||tumor myocardial rhabdomyomas and fibromas D006338||tumors cardiac D006338||tumors heart D006338||tumors myocardial rhabdomyomas and fibromas C563239||aneurysm of interventricular septum 613464||retinitis pigmentosa 51 613464||rp51 D008998||monoclonal gammopathy of undetermined significance D008998||benign monoclonal gammapathies D008998||benign monoclonal gammapathy D008998||benign monoclonal gammopathies D008998||benign monoclonal gammopathy D008998||gammapathies benign monoclonal D008998||gammapathy benign monoclonal D008998||gammopathies benign monoclonal D008998||gammopathy benign monoclonal D008998||monoclonal gammapathies benign D008998||monoclonal gammapathy benign D008998||monoclonal gammapathy of undetermined significance D008998||monoclonal gammopathies benign D008998||monoclonal gammopathy benign D006337||heart murmurs D006337||cardiac murmur D006337||cardiac murmurs D006337||diastolic murmur D006337||diastolic murmurs D006337||heart murmur D006337||innocent murmur D006337||innocent murmurs D006337||murmur cardiac D006337||murmur diastolic D006337||murmur heart D006337||murmur innocent D006337||murmurs cardiac D006337||murmurs diastolic D006337||murmurs heart D006337||murmurs innocent C563238|C562782|307700||parathyroid glands agenesis of D054060||pulmonary infarction D054060||infarction pulmonary D054060||infarctions pulmonary D054060||pulmonary infarctions C566350|603649||cone rod dystrophy 7 C566350|603649||cord7 D006335||heart injuries D006335||cardiac ruptures traumatic D006335||cardiac rupture traumatic D006335||heart injury D006335||heart ruptures traumatic D006335||heart rupture traumatic D006335||injuries heart D006335||injury heart D006335||ruptures traumatic cardiac D006335||ruptures traumatic heart D006335||rupture traumatic cardiac D006335||rupture traumatic heart D006335||traumatic cardiac rupture D006335||traumatic cardiac ruptures D006335||traumatic heart rupture D006335||traumatic heart ruptures D006332||cardiomegaly D006332||cardiac hypertrophy D006332||enlarged heart D006332||enlargement heart D006332||heart enlarged D006332||heart enlargement D006332||heart hypertrophy D006333||heart failure D006333||cardiac failure D006333||congestive heart failure D006333||decompensation heart D006333||heart decompensation D006333||heart failure congestive D006333||heart failure left sided D006333||heart failure right sided D006333||left sided heart failure D006333||myocardial failure D006333||right sided heart failure D006341||heart rupture D006341||cardiac free wall rupture D006341||cardiac rupture D006341||cardiac ruptures D006341||free wall rupture heart D006341||heart ruptures D006341||ventricular free wall rupture D007673||kidney cortex necrosis D007673||glomerular necrosis D007673||necrosis glomerular D007673||necrosis kidney cortex D007673||necrosis renal cortical D007673||necrosis renal tubule D007673||renal cortical necrosis D007673||renal tubule necrosis D006342||heart rupture post infarction D006342||cardiac rupture post infarction D006342||cardiac ruptures post infarction D006342||heart ruptures post infarction D006342||post infarction cardiac rupture D006342||post infarction cardiac ruptures D006342||post infarction heart rupture D006342||post infarction heart ruptures D006342||rupture post infarction cardiac D006342||rupture post infarction heart D006342||ruptures post infarction cardiac D006342||ruptures post infarction heart D018319||neurofibrosarcoma D018319||neurofibrosarcomas D018319||neurogenic sarcoma D018319||neurogenic sarcomas D018319||sarcoma neurogenic D018319||sarcomas neurogenic D018316||gliosarcoma D018316||glioblastoma with sarcomatous component D018316||glioma sarcomatous D018316||gliomas sarcomatous D018316||gliosarcomas D018316||sarcomatous glioma D018316||sarcomatous gliomas 214450|C537301||griscelli syndrome type 1 214450|C537301||griscelli syndrome cutaneous and neurologic type 214450|C537301||griscelli syndrome with neurologic impairment 214450|C537301||gs1 214450|C537301||partial albinism and primary neurologic disease without hemophagocytic syndrome D018315||glioma subependymal D018315||adult subependymal astrocytoma D018315||adult subependymal astrocytomas D018315||astrocytoma adult subependymal D018315||astrocytomas adult subependymal D018315||astrocytomas subependymal D018315||astrocytoma subependymal D018315||gliomas subependymal D018315||glioses subependymal D018315||gliosis subependymal D018315||subependymal astrocytoma D018315||subependymal astrocytoma adult D018315||subependymal astrocytomas D018315||subependymal astrocytomas adult D018315||subependymal glioma D018315||subependymal gliomas D018315||subependymal glioses D018315||subependymal gliosis D018315||subependymoma D018315||subependymomas D054059||coronary occlusion D054059||coronary occlusions D054059||occlusion coronary D054059||occlusions coronary D018318||neurofibroma plexiform D018318||elephantiasis neuromatoses D018318||elephantiasis neuromatosis D018318||neurofibromas plexiform D018318||neuroma plexiform D018318||neuromas plexiform D018318||pachydermatocele D018318||pachydermatoceles D018318||plexiform neurofibroma D018318||plexiform neurofibromas D018318||plexiform neuroma D018318||plexiform neuromas D018318||tumor royale D054058||acute coronary syndrome D054058||acute coronary syndromes D054058||coronary syndrome acute D054058||coronary syndromes acute D054058||syndrome acute coronary D054058||syndromes acute coronary D018317||nerve sheath neoplasms D018317||neoplasm nerve sheath D018317||neoplasms nerve sheath D018317||nerve sheath neoplasm D018317||nerve sheath tumors D018317||nerve sheath tumors peripheral D018317||perineurioma D018317||perineuriomas D018317||peripheral nerve sheath tumors D018317||tumors of the nerve sheath D018312||sex cord gonadal stromal tumors D018312||gynandroblastoma D018312||gynandroblastomas D018312||sex cord stromal tumor D018312||sex cord stromal tumors D018312||tumor sex cord stromal D018312||tumors sex cord stromal C564571||noncompaction of left ventricular myocardium familial isolated x linked C564571||left ventricular noncompaction isolated x linked D018311||luteoma D018311||gestational luteoma D018311||gestational luteomas D018311||luteinoma D018311||luteoma gestational D018311||luteoma of pregnancy D018311||luteoma pregnancy D018311||luteomas D018311||luteomas gestational D018311||luteomas pregnancy D018311||pregnancy luteoma D018311||pregnancy luteomas C566489|609995||myopia 12 C566489|609995||myopia 12 autosomal dominant C566489|609995||myp12 C536942|311900||tarp syndrome C536942|311900||pierre robin syndrome with congenital heart malformation and clubfoot C536942|311900||talipes equinovarus atrial septal defect robin sequence and persistence of left superior vena cava C536942|311900||tarps C565863||cerebrocortical degeneration of infancy C565864||cerebral angiopathy dysphoric C565866||cerebelloparenchymal disorder ii C565866||cpd late onset recessive type C538241||amelogenesis imperfecta nephrocalcinosis C538241||absent enamel nephrocalcinosis and apparently normal calcium metabolism C538241||amelogenesis imperfecta hypoplastic and nephrocalcinosis C538241||amelogenesis imperfecta type ig C538241||enamel renal syndrome C538241||generalized enamel hypoplasia and renal dysfunction C564535||lesch nyhan syndrome neurologic variant C564535||hprt deficiency neurologic variant C538248||amyloid angiopathy C538248||amyloidosis cerebral C538248||senile cerebral amyloid angiopathy C563203||anodontia of permanent dentition C563203||teeth permanent absence of D007638||keratoconjunctivitis sicca D007638||sicca keratoconjunctivitis C565861||cerebrohepatorenal syndrome variant types C565861||zellweger syndrome variant types C564532||thrombocytosis familial x linked D007639||keratoconjunctivitis infectious D007639||infectious keratoconjunctivitides D007639||infectious keratoconjunctivitis D007639||keratoconjunctivitides infectious C565862||cerebrofaciothoracic dysplasia C538245||ameloonychohypohidrotic syndrome C538245||hypocalcified hypoplastic enamel onycholysis with subungual hyperkeratosis and hypohidrosis D007636||keratoacanthoma D007636||keratoacanthomas D007637||keratoconjunctivitis D007637||keratoconjunctivitides D007634||keratitis D007634||keratitides D007635||keratitis dendritic D007635||dendritic keratitides D007635||dendritic keratitis D007635||furrow keratitides D007635||furrow keratitis D007635||keratitides dendritic D007635||keratitides furrow D007635||keratitis furrow C566440|607932||microphthalmia syndromic 6 C566440|607932||anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia C566440|607932||mcops6 C566440|607932||microphthalmia and pituitary anomalies C566440|607932||microphthalmia with brain and digit developmental anomalies C565867||cerebellar vermis aplasia with associated features suggesting smith lemli opitz syndrome and meckel syndrome D054070||postthrombotic syndrome D054070||syndrome postthrombotic D054070||syndrome venous stasis D054070||venous stasis syndrome C565868||cerebellar ataxia benign with thermoanalgesia C565868||cerebellar ataxia with loss of pain and temperature sensation C565869||cerebellar ataxia and neurosensory deafness D007640||keratoconus D055397||ventilator induced lung injury D055397||lung injuries ventilator induced D055397||lung injury ventilator induced D055397||ventilator induced lung injuries D054062||deaf blind disorders D054062||blind deaf disorder D054062||blind deaf disorders D054062||blindness deafness D054062||deaf blind disorder D054062||deaf blind disorder prelingual D054062||deaf blind disorders prelingual D054062||deaf blindness disorder D054062||deaf blindness disorders D054062||deaf blind syndrome D054062||deaf blind syndromes D054062||deaf mutism blind disorder D054062||deaf mutism blind disorders D054062||deafness blindness D054062||deafness blindnesses prelingual D054062||deafness blindness prelingual D054062||disorder blind deaf D054062||disorder deaf blind D054062||disorder deaf blindness D054062||disorder deaf mutism blind D054062||disorder prelingual deaf blind D054062||disorders blind deaf D054062||disorders deaf blind D054062||disorders deaf blindness D054062||disorders deaf mutism blind D054062||disorders prelingual deaf blind D054062||hearing and vision loss D054062||prelingual deaf blind disorder D054062||prelingual deaf blind disorders D054062||prelingual deafness blindness D054062||prelingual deafness blindnesses D054062||syndrome deaf blind D054062||syndromes deaf blind D054062||vision and hearing loss C537456|300486||mental retardation x linked with cerebellar hypoplasia and distinctive facial appearance C537456|300486||mental retardation x linked 60 formerly C537456|300486||mrx60 formerly D054061||ischemic contracture D054061||contracture ischemic D054061||contractures ischemic D054061||contractures volkmann D054061||contracture volkmann D054061||contracture volkmann apos s ischemic D054061||ischemic contractures D054061||ischemic contracture volkmann apos s D054061||volkmann contracture D054061||volkmann contractures D054061||volkmann ischemic contracture D054061||volkmann apos s ischemic contracture D054061||volkmanns ischemic contracture D054068||livedo reticularis D054066||leukemia large granular lymphocytic D054066||large granular lymphocyte leukemia D054066||leukemia lgl D054066||leukemia lymphocytic large granular D054066||leukemia natural killer cell large granular lymphocytic D054066||leukemia nk lgl D054066||leukemias lgl D054066||leukemias nk lgl D054066||leukemias t lgl D054066||leukemia t cell large granular lymphocytic D054066||leukemia t lgl D054066||lgl leukemia D054066||lgl leukemias D054066||lymphoproliferative disease of granular lymphocytes D054066||lymphoproliferative disease of large granular lymphocytes D054066||natural killer cell large granular lymphocytic leukemia D054066||nk cell large granular lymphocytic leukemia D054066||nk lgl leukemia D054066||nk lgl leukemias D054066||t cell large granular lymphocyte leukemia D054066||t cell large granular lymphocytic leukemia D054066||t lgl leukemia D054066||t lgl leukemias C566923|611544||cataract congenital nuclear autosomal recessive 3 C566923|611544||cataract 17 multiple types C566923|611544||catcn3 C566923|611544||ctrct17 C538238||adrenal incidentaloma 304050|D058540||aicardi syndrome 304050|D058540||agenesis of corpus callosum with chorioretinal abnormality 304050|D058540||agenesis of corpus callosum with infantile spasms and ocular abnormalities 304050|D058540||aic 304050|D058540||aicardi apos s syndrome 304050|D058540||callosal agenesis and ocular abnormalities 304050|D058540||chorioretinal anomalies with acc 304050|D058540||corpus callosum agenesis of with chorioretinal abnormality 304050|D058540||syndrome aicardi 304050|D058540||syndrome aicardi apos s C563783|609161||striatal degeneration autosomal dominant C563783|609161||adsd C564542||hyper igm immunodeficiency x linked with ectodermal dysplasia hypohidrotic C564542||xhm ed C538255||anaplastic small cell lymphoma C538255||small cell variant of anaplastic large cell lymphoma C538253||amyotrophy monomelic C538253||hirayama disease C538253||monomelic amyotrophy C538253||spinal muscular atrophy juvenile nonprogressive C563324|601399||platelet disorder familial with associated myeloid malignancy C563324|601399||fpdaml C563324|601399||fpd aml C563324|601399||fpdmm C563324|601399||platelet disorder aspirin like C563324|601399||thrombocytopenia familial with propensity to acute myelogenous leukemia C563215||genochondromatosis C565870||cerebellar ataxia and hypogonadotropic hypogonadism C565870||gordon holmes syndrome C565870||lhrh deficiency and ataxia C565870||luteinizing hormone releasing hormone deficiency of with ataxia C564545||androgen insensitivity syndrome due to coactivator deficiency C564544||uruguay faciocardiomusculoskeletal syndrome C564544||faciocardiomusculoskeletal syndrome uruguay type C563213||myositis eosinophilic C565872||cephalin lipidosis D006319||hearing loss sensorineural D006319||cochlear hearing loss D006319||hearing loss cochlear D006319||sensorineural hearing loss D007647||kernicterus D007647||bilirubin encephalopathies D007647||bilirubin encephalopathy D007647||encephalopathies bilirubin D007647||encephalopathies hyperbilirubinemic D007647||encephalopathy bilirubin D007647||encephalopathy hyperbilirubinemic D007647||hyperbilirubinemic encephalopathies D007647||hyperbilirubinemic encephalopathy C563219||fascial dystrophy congenital D006316||hearing loss high frequency D006316||high frequency hearing loss C564970|255160||myopathy hyaline body autosomal recessive C563218||brachyolmia type 2 C563218||brachyolmia maroteaux type D006317||hearing loss noise induced D006317||acoustic trauma D006317||noise induced hearing loss D006314||hearing loss conductive D006314||conductive hearing loss D008976||molluscum contagiosum D006315||hearing loss functional D006315||functional hearing loss D006315||hearing loss nonorganic D006315||hearing loss psychogenic D006315||nonorganic hearing loss D006315||psychogenic hearing loss D006312||hearing loss bilateral D006312||bilateral hearing loss D006312||bilateral hearing losses D006312||hearing losses bilateral D006312||loss bilateral hearing D006312||losses bilateral hearing C538251||amyotrophic lateral sclerosis type 6 C538251||amyotrophic lateral sclerosis 6 D054081||neuronal migration disorders D054081||disorder neuronal migration D054081||disorders neuronal migration D054081||migration disorder neuronal D054081||migration disorders neuronal D054081||neuronal migration disorder C566958|611378||macular degeneration age related 9 C566958|611378||armd9 D006313||hearing loss central D006313||central hearing loss D006313||cortical deafness D006313||deafness cortical C538250||amyopathic dermatomyositis C538250||idiopathic inflammatory myopathy familial C538250||idiopathic myopathy C538250||juvenile dermatomyositis C538250||juvenile myositis C538250||myopathy familial idiopathic inflammatory D054080||vein of galen malformations D054080||galen malformations veins D054080||malformations vein galen D054080||malformations veins galen C563744|609299||prostate cancer hereditary 5 C563744|609299||hpc5 D007642||keratosis D007642||blennorrhagica keratosis D007642||blennorrhagicas keratosis D007642||blennorrhagicum keratoderma D007642||blennorrhagicums keratoderma D007642||keratoderma blennorrhagicum D007642||keratoderma blennorrhagicums D007642||keratoma D007642||keratomas D007642||keratoses D007642||keratosis blennorrhagica D007642||keratosis blennorrhagicas D006311||hearing disorders D006311||distorted hearing D006311||dysacusis D006311||hearing disorder D006311||hearing distorted D006311||paracousis D006311||paracusis D004715|131200||endometriosis D004715|131200||endo1 D004715|131200||endometrioma D004715|131200||endometriomas D004715|131200||endometrioses D004715|131200||endometriosis susceptibility to 1 148370|C536155||keratolytic winter erythema 148370|C536155||erythrokeratolysis hiemalis ichthyosis 148370|C536155||kwe 148370|C536155||oudtshoorn skin D054079||vascular malformations D054079||malformations vascular D054079||malformation vascular D054079||vascular malformation 605021||myoclonic epilepsy familial infantile 605021||eim 605021||fime 607688||parkinson disease 11 autosomal dominant 607687||high density lipoprotein cholesterol level quantitative trait locus 3 607687||hdlcq3 C565841||long qt syndrome 2 3 C565842||brittle bone disorder C538265||attenuated familial adenomatous polyposis C538265||familial adenomatous polyposis attenuated C565843||cleidocranial dysplasia recessive form C565844||cleft palate deafness and oligodontia D016715|176920||proteus syndrome D016715|176920||elephant man disease D016715|176920||gigantism partial of hands and feet nevi hemihypertrophy and macrocephaly elattoproteus syndrome included D016715|176920||proteus like syndrome D016715|176920||syndrome proteus like D008949||adenoma pleomorphic D008949||adenomas pleomorphic D008949||chondroid syringoma D008949||chondroid syringomas D008949||mixed salivary gland tumor D008949||pleomorphic adenoma D008949||pleomorphic adenomas D008949||salivary gland tumor mixed D008949||syringoma chondroid D008949||syringomas chondroid C538269||aughton syndrome C538269||dextrocardia microphthalmia cleft palate and mental retardation C538269||dextrocardia with unusual facies and microphthalmia C538268||auditory neuropathy C538268||auditory dys synchrony C538268||familial auditory neuropathy C538268||progressive auditory neuropathy D021922||discrete subaortic stenosis D021922||discrete subaortic stenoses D021922||stenoses discrete subaortic D021922||stenosis discrete subaortic D021922||subaortic stenoses discrete D021922||subaortic stenosis discrete D008947||mixed connective tissue disease D008947||connective tissue disease mixed D008947||mctd D008947||sharp syndrome D008947||syndrome sharp D007617||kaposi varicelliform eruption D007617||eczema herpeticum D007617||eczema vaccinatum D007617||eruption kaposi apos s varicelliform D007617||eruption kaposi varicelliform D007617||kaposi apos s varicelliform eruption D007617||kaposis varicelliform eruption D007617||varicelliform eruption kaposi D007617||varicelliform eruption kaposi apos s 604290|C536004||familial apoceruloplasmin deficiency 604290|C536004||aceruloplasminemia 604290|C536004||ceruloplasmin deficiency 604290|C536004||ceruloplasmin deficiency included 604290|C536004||hemosiderosis systemic due to aceruloplasminemia included 604290|C536004||hereditary hypoceruloplasminemia 604290|C536004||hypoceruloplasminemia 604290|C536004||hypoceruloplasminemia included D008946||mitral valve stenosis D008946||mitral stenoses D008946||mitral stenosis D008946||mitral valve stenoses D008946||stenoses mitral D008946||stenoses mitral valve D008946||stenosis mitral D008946||stenosis mitral valve D008946||valve stenoses mitral D008946||valve stenosis mitral D008945||mitral valve prolapse D008945||click murmur syndrome D008945||click murmur syndrome mitral D008945||click murmur syndromes D008945||click murmur syndrome systolic D008945|157700||floppy mitral valve D008945||floppy mitral valves D008945||mitral click murmur syndrome D008945||mitral valve floppy D008945||mitral valve prolapsed D008945||mitral valve prolapses D008945||mitral valves floppy D008945||mitral valves prolapsed D008945|157700||prolapsed mitral valve D008945||prolapsed mitral valves D008945||prolapse mitral valve D008945||prolapses mitral valve D008945||syndrome click murmur D008945||syndrome mitral click murmur D008945||syndromes click murmur D008945||syndrome systolic click murmur D008945||systolic click murmur syndrome D008945||valve prolapsed mitral D008945||valve prolapse mitral D008945||valve prolapses mitral D008945||valves prolapsed mitral D008944||mitral valve insufficiency D008944||incompetence mitral D008944||incompetence mitral valve D008944||insufficiency mitral D008944||insufficiency mitral valve D008944||mitral incompetence D008944||mitral insufficiency D008944||mitral regurgitation D008944||mitral valve incompetence D008944||mitral valve regurgitation D008944||regurgitation mitral D008944||regurgitation mitral valve D008944||valve incompetence mitral D008944||valve insufficiency mitral D008944||valve regurgitation mitral D054092||foramen ovale patent D054092||oval foramen patent D054092||patent foramen ovale D054092||patent oval foramen D054091||periventricular nodular heterotopia D054091||bilateral periventricular nodular heterotopia D054091||familial nodular heterotopia D054091||familial nodular heterotopias D054091||heterotopia periventricular nodular D054091||heterotopias familial nodular D054091||heterotopias periventricular D054091||heterotopias periventricular nodular D054091||heterotopias x linked periventricular D054091||heterotopia x linked periventricular D054091||nodular heterotopia familial D054091||nodular heterotopia periventricular D054091||nodular heterotopias familial D054091||nodular heterotopias periventricular D054091||periventricular heterotopia D054091||periventricular heterotopias D054091||periventricular heterotopias x linked D054091||periventricular heterotopia x linked D054091||periventricular nodular heterotopias D054091||x linked periventricular heterotopia D054091||x linked periventricular heterotopias C564519||brain anomalies retardation ectodermal dysplasia skeletal malformations hirschsprung disease ear eye anomalies cleft palate cryptorchidism and kidney dysplasia hypoplasia C564519||bresek syndrome C564519||bresheck syndrome C565847||circumvallate placenta syndrome C538260||atresia of small intestine C538260||congenital atresia of the small intestine C538260||small intestine atresia C565848||chromosomal instability with tissue specific radiosensitivity D054084||myocardial bridging D054084||bridging myocardial D054084||bridgings myocardial D054084||myocardial bridgings D054083||ectopia cordis D054083||cordis ectopia D063806|D059352||myalgia D063806||muscle pain D063806||muscle soreness D063806||muscle sorenesses D063806||muscle tenderness D063806||pain muscle D063806||pains muscle D063806||soreness muscle D063806||tenderness muscle C564278|608180||synpolydactyly 2 C564278|608180||spd2 C564278|608180||synpolydactyly 3 3 prime 4 associated with metacarpal and metatarsal synostoses D006009|232300||glycogen storage disease type ii D006009|232300||acid alpha glucosidase deficiencies D006009|232300||acid alpha glucosidase deficiency D006009|232300||acid maltase deficiencies D006009|232300||acid maltase deficiency D006009|232300||acid maltase deficiency disease D006009|232300||adult glycogen storage disease type ii D006009|232300||alpha 1 4 glucosidase deficiencies D006009|232300||alpha 1 4 glucosidase deficiency D006009|232300||alpha glucosidase deficiencies D006009|232300||alpha glucosidase deficiencies acid D006009|232300||alpha glucosidase deficiency D006009|232300||alpha glucosidase deficiency acid D006009|232300||amd D006009|232300||deficiencies acid alpha glucosidase D006009|232300||deficiencies acid maltase D006009|232300||deficiencies alpha 1 4 glucosidase D006009|232300||deficiencies gaa D006009|232300||deficiency acid alpha glucosidase D006009|232300||deficiency acid maltase D006009|232300||deficiency alpha 1 4 glucosidase D006009|232300||deficiency disease acid maltase D006009|232300||deficiency disease lysosomal alpha 1 4 glucosidase D006009|232300||deficiency gaa D006009|232300||deficiency of alpha glucosidase D006009|232300||disease pompe D006009|232300||disease pompe apos s D006009|232300||gaa deficiencies D006009|232300||gaa deficiency D006009|232300||generalized glycogenoses D006009|232300||generalized glycogenosis D006009|232300||glycogenoses generalized D006009|232300||glycogenosis 2 D006009|232300||glycogenosis generalized D006009|232300||glycogenosis type ii D006009|232300||glycogen storage disease ii D006009|232300||glycogen storage disease type 2 D006009|232300||glycogen storage disease type ii adult D006009|232300||glycogen storage disease type ii infantile D006009|232300||glycogen storage disease type ii juvenile D006009|232300||gsd2 D006009|232300||gsd2s D006009|232300||gsd ii D006009|232300||gsd ii acid alpha glucosidase deficiency D006009|232300||infantile glycogen storage disease type ii D006009|232300||juvenile glycogen storage disease type ii D006009|232300||lysosomal alpha 1 4 glucosidase deficiency disease D006009|232300||maltase deficiencies acid D006009|232300||pompe disease D006009|232300||pompe apos s disease D006009|232300||pompes disease D006009|232300||type ii glycogenosis D006009|232300||type iis glycogenosis D063807||dandruff D063807||scurf 606346||deafness autosomal dominant 22 dfna22 deafness autosomal dominant 22 with hypertrophic cardiomyopathy C565726|609734||proopiomelanocortin deficiency C565726|609734||obesity early onset adrenal insufficiency and red hair C565852||chondroitin 6 sulfaturia defective cellular immunity nephrotic syndrome C538277||prata lib 233 ral gon 231 alves syndrome C538277||brachydactyly scoliosis spina bifida occulta and carpal synostosis C538277||prata liberal goncalves syndrome C565853||chondrodysplasia punctata syndrome C538276||prader willi habitus osteopenia and camptodactyly C538276||urban rogers meyer syndrome C565855||chondrodysplasia calcificans metaphysealis C538274||autoimmune oophoritis D007627||keloid D007627||keloids C565850||chorioretinal dystrophy spinocerebellar ataxia and hypogonadotropic hypogonadism C565850||boucher neuhauser syndrome C538279||catamenial pneumothorax C565851||chorea benign familial C564526||macrothrombocytopenia x linked C564525||dyserythropoietic anemia with thrombocytopenia C564525||dyserythropoietic anemia and thrombocytopenia C564525||gata1 related cytopenia C564525||gata1 related x linked cytopenia C564525||x linked macrothrombocytopenia C565856||cholestasis with gallstone ataxia and visual disturbance C538273||autoimmune enteropathy C538272||ausems wittebol post hennekam syndrome C538272||cleft lip with progressive retinopathy C538271||auriculoosteodysplasia C538271||auriculo osteodysplasia C538271||multiple osseous dysplasia characteristic ear shape and short stature C562441|243150||intestinal atresia multiple C562441|243150||familial intestinal polyatresia syndrome C562441|243150||fipa C562441|243150||minat D054098||thrombocytopenia neonatal alloimmune D054098||alloimmune thrombocytopenia neonatal D054098||alloimmune thrombocytopenias neonatal D054098||neonatal alloimmune thrombocytopenia D054098||neonatal alloimmune thrombocytopenias D054098||neonatal thrombocytopenia D054098||neonatal thrombocytopenias D054098||thrombocytopenia neonatal D054098||thrombocytopenias neonatal D054098||thrombocytopenias neonatal alloimmune D005198|134600||fanconi syndrome D005198|134600||adult fanconi syndrome D005198|134600||bickel syndrome fanconi D005198|134600||de toni debre fanconi syndrome D005198|134600||diabete pseudo phlorizin D005198|134600||diabetes pseudo phlorizin D005198|134600||fanconi bickel syndrome D005198|134600||fanconi bickel syndromes D005198|134600||fanconi renotubular syndrome D005198|134600||fanconi renotubular syndrome 1 D005198|134600||fanconi renotubular syndrome 2 D005198|134600||fanconi syndrome adult D005198|134600||fanconi syndrome renal D005198|134600||fanconi syndrome with intestinal malabsorption and galactose intolerance D005198|134600||fanconi syndrome without cystinosis D005198|134600||fanconi type glycogenosis D005198|134600||fbs D005198|134600||frts D005198|134600||frts1 D005198|134600||frts2 D005198|134600||glycogenosis fanconi type D005198|134600||hepatic glycogenosis with amino aciduria and glucosuria D005198|134600||hepatic glycogenosis with fanconi nephropathy D005198|134600||hepatorenal glycogenosis with renal fanconi syndrome D005198|134600||idiopathic de toni debre fanconi syndrome D005198|134600||lignac fanconi syndrome D005198|134600||luder sheldon syndrome D005198|134600||neonatal de toni debre fanconi syndrome D005198|134600||primary toni debre fanconi syndrome D005198|134600||proximal renal tubular dysfunction D005198|134600||pseudo phlorizin diabete D005198|134600||pseudo phlorizin diabetes D005198|134600||renal fanconi syndrome D005198|134600||renotubular syndrome fanconi D005198|134600||rfs D005198|134600||syndrome adult fanconi D005198|134600||syndrome fanconi D005198|134600||syndrome fanconi bickel D005198|134600||syndrome fanconi renotubular D005198|134600||syndrome lignac fanconi D005198|134600||syndrome luder sheldon D005198|134600||syndrome renal fanconi D005198|134600||syndromes fanconi bickel D005198|134600||toni debre fanconi syndrome C538616|168300||paramyotonia congenita of von eulenburg C538616|168300||paralysis periodica paramyotonia C538616|168300||paralysis periodica paramyotonica C538616|168300||paralysis periodica paramyotonica paramyotonia congenita without cold paralysis included C538616|168300||paramyotonia congenita without cold paralysis C538616|168300||pmc C538616|168300||von eulenberg apos s disease C538200||deafness autosomal dominant nonsyndromic sensorineural 3 C538200||neurosensory nonsyndromic dominant deafness 1 C565821||noncompaction of left ventricular myocardium familial isolated autosomal dominant 1 C565821||left ventricular noncompaction isolated autosomal dominant D016506|169600||pemphigus benign familial D016506|169600||bcpm D016506|169600||benign chronic pemphigus D016506|169600||benign familial pemphigus D016506|169600||familial benign chronic pemphigus D016506|169600||familial pemphigus benign D016506|169600||hailey hailey disease D016506|169600||hhd C538204||deafness congenital onychodystrophy recessive form C538204||deafness onycho osteodystrophy mental retardation syndrome C538201||deafness autosomal dominant nonsyndromic sensorineural 53 D012192||retroviridae infections D012192||infection retroviridae D012192||infection retrovirus D012192||infections retroviridae D012192||infections retrovirus D012192||retroviridae infection D012192||retrovirus infection D012192||retrovirus infections C563789|609136||peripheral demyelinating neuropathy central dysmyelination waardenburg syndrome and hirschsprung disease C563789|609136||pcwh C563789|609136||waardenburg shah syndrome neurologic variant D008924||mite infestations D008924||acariasis D008924||infestation mite D008924||infestations mite D008924||mange D008924||mite infestation C565825||cerebellar ataxia deafness and narcolepsy 608984||ataxia sensory 1 autosomal dominant 608984||adsa 608984||snax1 D024182||uniparental disomy D024182||disomies uniparental D024182||disomy uniparental D024182||heterodisomies uniparental D024182||heterodisomy uniparental D024182||isodisomies uniparental D024182||uniparental disomies D024182||uniparental heterodisomies D024182||uniparental heterodisomy D024182||uniparental isodisomies D024182||uniparental isodisomy D012186||retroperitoneal neoplasms D012186||neoplasm retroperitoneal D012186||neoplasms retroperitoneal D012186||retroperitoneal neoplasm 184850|D016750||stiff person syndrome 184850|D016750||congenital stiff man syndrome 184850|D016750||familial hyperekplexia 184850|D016750||hereditary hyperekplexia 184850|D016750||hyperekplexia 184850|D016750||moersch woltmann syndrome 184850|D016750||per included 184850|D016750||perm included 184850|D016750||startle syndrome 184850|D016750||stiffman syndrome 184850|D016750||stiff man syndrome 184850|D016750||stiff trunk syndrome 184850|D016750||stiff trunk syndrome progressive encephalomyelitis with rigidity included 184850|D016750||syndrome moersch woltmann 184850|D016750||syndrome stiffman 184850|D016750||syndrome stiff man 184850|D016750||syndrome stiff person D012185||retroperitoneal fibrosis D012185||chronic periaortitides D012185||chronic periaortitis D012185||disease ormond D012185||disease ormond apos s D012185||fibroses retroperitoneal D012185||fibrosis inflammatory perianeurysmal D012185||fibrosis perianeurysmal inflammatory D012185||fibrosis retroperitoneal D012185||idiopathic retroperitoneal fibrosis D012185||inflammatory fibrosis perianeurysmal D012185||inflammatory perianeurysmal fibrosis D012185||ormond disease D012185||ormond apos s disease D012185||perianeurysmal fibrosis inflammatory D012185||perianeurysmal inflammatory fibrosis D012185||periaortitides chronic D012185||periaortitis chronic D012185||retroperitoneal fibroses 137750|C564234||glaucoma 1 open angle a 137750|C564234||glaucoma primary open angle juvenile onset 1 137750|C564234||glaucoma primary open angle juvenile onset 1 joag1 glaucoma 1 open angle l included 137750|C564234||glc1a 137750|C564234||glc1l included D012188||retropneumoperitoneum D012188||pneumoretroperitoneum C563436|600858||cardiomyopathy familial hypertrophic 6 C563436|600858||cmh6 D050500||pancreatitis chronic D050500||chronic pancreatitis C536940|274000||absent radii and thrombocytopenia C536940|274000||chromosome 1q21 1 deletion syndrome 200 kb C536940|274000||radial aplasia amegakaryocytic thrombocytopenia C536940|274000||radial aplasia thrombocytopenia syndrome C536940|274000||tar C536940|274000||tar syndrome C536940|274000||thrombocytopenia absent radii C536940|274000||thrombocytopenia absent radius syndrome C565830||myasthenic syndrome due to mutation in scn4a C538211||dens in dente and palatal invaginations C538210||dennis fairhurst moore syndrome C538210||hallermam streiff like syndrome C567066|300659||mental retardation x linked 93 C567066|300659||mental retardation x linked with macrocephaly C567066|300659||mrx93 C538213||dentin dysplasia sclerotic bones C538213||dentin dysplasia with sclerotic bones C538213||sclerotic bones with dentin dysplasia C538326|300221||hodgkin disease x linked pseudoautosomal C565834|603902||beta thalassemia dominant inclusion body type C565834|603902||dyserythropoietic anemia congenital irish or weatherall type C566528|602540||hid syndrome C566528|602540||hystrix like ichthyosis with deafness C566528|602540||ichthyosis hystrix like with deafness C538207||deletion 6q16 q21 C538207||monosomy 6q16 q21 C538206||deal barratt dillon syndrome C538206||fanconi syndrome ichthyosis dysmorphism jaundice and diarrhoea C538205||deafness neurosensory autosomal recessive 47 C536993|608796||moyamoya disease 3 C536993|608796||mymy3 C538221||green sandford davison syndrome C538220||dermatoleukodystrophy C535382|208085||arthrogryposis renal dysfunction cholestasis syndrome C535382|208085||arcs C535382|208085||arcs1 C535382|208085||arcs2 C535382|208085||arc syndrome C535382|208085||arthrogryposis multiplex congenita renal dysfunction and cholestasis C535382|208085||arthrogryposis renal dysfunction and cholestasis C535382|208085||arthrogryposis renal dysfunction and cholestasis 1 C535382|208085||arthrogryposis renal dysfunction and cholestasis 2 C538224||adams nance syndrome C538224||tachycardia hypertension microphthalmos hyperglycinuria C538223||acute zonal occult outer retinopathy D012170||retinal vein occlusion D012170||occlusion retinal vein D012170||occlusions retinal vein D012170||retinal vein occlusions D012170||retinal vein thromboses D012170||retinal vein thrombosis D012170||thromboses retinal vein D012170||thrombosis retinal vein D012170||vein occlusion retinal D012170||vein occlusions retinal D012170||vein thromboses retinal D012170||vein thrombosis retinal C565808||generalized epilepsy with febrile seizures plus C565801||hemosiderosis systemic due to aceruloplasminemia D000189||actinobacillus infections D000189||actinobacillus infection D000189||infection actinobacillus D000189||infections actinobacillus C537482|604187||spastic paraplegia 10 autosomal dominant C537482|604187||autosomal dominant spastic paraplegia C537482|604187||spastic paraplegia 10 with or without peripheral neuropathy C537482|604187||spg10 C565803||carney triad C565803||gastric leiomyosarcoma pulmonary chondroma and extraadrenal paraganglioma D000187||actinobacillosis D000187||actinobacilloses 203655|C537055||alopecia universalis 203655|C537055||alopecia universalis congenita 203655|C537055||alunc 203655|C537055||atrichia generalized 203655|C537055||generalized atrichia D000193||actinomycetales infections D000193||actinomycetales infection D000193||actinomycete infection D000193||actinomycete infections D000193||infection actinomycetales D000193||infection actinomycete D000193||infections actinomycetales D000193||infections actinomycete C538219||dermatofibrosarcoma protuberans C538219||familial dermatofibrosarcoma protuberans C538219||giant cell fibroblastoma C538219||metastatic dermatofibrosarcoma protuberans D012164||retinal diseases D012164||disease retinal D012164||diseases retinal D012164||retinal disease C538218||dermatitis herpetiformis familial C538217||der kaloustian mcintosh silver syndrome D012162||retinal degeneration D012162||degeneration retinal D012162||degenerations retinal D012162||retinal degenerations D012163||retinal detachment D012163||detachment retinal D012163||detachments retinal D012163||retinal detachments D012163||retinal pigment epithelial detachment D012166||retinal hemorrhage D012166||hemorrhage retinal D012166||retinal hemorrhages D012167||retinal perforations D012167||break retinal D012167||breaks retinal D012167||dialyses retinal D012167||hole macular D012167||hole retinal D012167||holes macular D012167||holes retinal D012167||macular hole D012167||macular holes D012167||perforation retinal D012167||perforations retinal D012167||retinal break D012167||retinal breaks D012167||retinal dialyse D012167||retinal dialyses D012167||retinal hole D012167||retinal holes D012167||retinal perforation D012167||retinal tear D012167||retinal tears D012167||tear retinal D012167||tears retinal C538232||adenosarcoma of the uterus C538232||mullerian adenosarcoma of the uterus C538232||uterine adenosarcoma C538231||adenocarcinoma of lung C538231||lung adenocarcinoma C536586|104200||alport syndrome dominant type C536586|104200||renal failure and sensorineural hearing loss C538230||adenocarcinoid tumor D012183||retrograde degeneration D012183||axonal reaction D012183||axonal reactions D012183||axon reaction D012183||axon reactions D012183||degeneration nissl D012183||degeneration retrograde D012183||degenerations retrograde D012183||degenerations transneuronal retrograde D012183||degenerations trans synaptic D012183||degeneration transneuronal retrograde D012183||degeneration trans synaptic D012183||nissl degeneration D012183||reaction axon D012183||reaction axonal D012183||reactions axon D012183||reactions axonal D012183||retrograde degenerations D012183||retrograde degenerations transneuronal D012183||retrograde degeneration transneuronal D012183||transneuronal retrograde degeneration D012183||transneuronal retrograde degenerations D012183||trans synaptic degeneration D012183||trans synaptic degenerations C538234||adenosine monophosphate deaminase deficiency C538234||myoadenylate deaminase deficiency myopathy due to D012181||retrocochlear diseases D012181||disease retrocochlear D012181||diseases retrocochlear D012181||hearing loss retrocochlear D012181||retrocochlear disease D012181||retrocochlear hearing loss D000197||actinomycosis cervicofacial D000197||actinomycoses cervicofacial D000197||cervicofacial actinomycoses D000197||cervicofacial actinomycosis C537177|606693||parkinson disease 9 C537177|606693||cln12 included C537177|606693||krs C537177|606693||kufor rakeb syndrome C537177|606693||pallidopyramidal degeneration with supranuclear upgaze paresis and dementia C537177|606693||pallidopyramidal degeneration with supranuclear upgaze paresis and dementia krppd ceroid lipofuscinosis neuronal 12 included C537177|606693||park9 C537177|606693||parkinson disease 9 autosomal recessive D000196||actinomycosis D000196||actinomyces infection D000196||actinomyces infections D000196||actinomycoses D000196||infection actinomyces D000196||infections actinomyces C565817||hirschsprung disease with heart defects laryngeal anomalies and preaxial polydactyly C564968|255600||myosclerosis autosomal recessive C564968|255600||myopathy myosclerotic C564968|255600||myosclerosis congenital of lowenthal C565812||generalized epilepsy with febrile seizures plus type 5 C565812||gefsp5 C565812||gefs type 5 C565813||febrile seizures associated with afebrile seizures C562637|226500||epidermolysis bullosa dystrophica neurotrophica C562637|226500||ebr3 C562637|226500||epidermolysis bullosa progressiva recessive C562637|226500||epidermolysis bullosa with congenital deafness 193235||adniv 193235||pvr 193235||vitreoretinopathy neovascular inflammatory autosomal dominant 193235||vrni C537984|601098||charcot marie tooth disease type 1c C537984|601098||charcot marie tooth disease demyelinating type 1c C537984|601098||charcot marie tooth neuropathy type 1c C537984|601098||charcot marie tooth neuropathy type 1c neuropathy hereditary motor and sensory type ic C537984|601098||cmt1c C537984|601098||cmt slow nerve conduction type c C537984|601098||hmsn1c C537984|601098||hmsnic C537984|601098||hmsn ic C537984|601098||neuropathy hereditary motor and sensory type ic C536919|103500||tietz syndrome C536919|103500||albinism and complete nerve deafness C536919|103500||albinism deafness of tietz C536919|103500||hypopigmentation deafness of tietz C536919|103500||tietz albinism deafness syndrome C564565|300211||episodic muscle weakness x linked C564565|300211||emwx C538229||adenoameloblastoma C538229||adenomatoid ameloblastoma C538229||adenomatoid odontogenic tumor C538229||pleomorphic adenomatoid tumor C564678|606688||spongiform encephalopathy with neuropsychiatric features C538228||adenine phosphoribosyltransferase deficiency C538228||2 8 dihydroxyadenine urolithiasis C538228||2 8 dihydroxyadeninuria C538228||aprt deficiency C538228||dha crystalline nephropathy C538228||urolithiasis 2 8 dihydroxyadenine D012173||retinitis D012173||neuroretinitis C538104|260300||pallidopyramidal syndrome C538104|260300||pallido pyramidal disease C538104|260300||pallido pyramidal syndrome C538104|260300||park15 C538104|260300||parkinson disease 15 autosomal recessive C538104|260300||parkinson disease 15 autosomal recessive early onset C538104|260300||parkinsonian pyramidal syndrome C538104|260300||pkps C566044|613765||cardiomyopathy familial hypertrophic 9 C566044|613765||cmh9 D058456|300216||retinal telangiectasis D058456|300216||coats disease D058456|300216||disease coats D058456|300216||retinal telangiectases D058456|300216||telangiectases retinal D058456|300216||telangiectasis retinal D012178||retinopathy of prematurity D012178||fibroplasia retrolental D012178||fibroplasias retrolental D012178||prematurity retinopathies D012178||prematurity retinopathy D012178||retrolental fibroplasia D012178||retrolental fibroplasias C538376|610021||hyperinsulinemic hypoglycemia familial 7 C538376|610021||hhf7 C538376|610021||hyperinsulinemic hypoglycemia exercise induced 300519|C564495||martin probst deafness mental retardation syndrome 300519|C564495||mental retardation x linked syndromic martin probst type 300519|C564495||mrxsmp C565904||beta aminoisobutyric acid urinary excretion of C565904||baib urinary excretion C565904||hyper beta aminoisobutyric aciduria C565905||berry aneurysm cirrhosis pulmonary emphysema and cerebral calcification C565905||cerebral aneurysm cirrhosis syndrome 311250||otc deficiency valproate sensitivity included C565907||bcg infection generalized familial C565902||biemond syndrome ii D063748||bland white garland syndrome D063748||alcapa D063748||alcapa syndrome D063748||alcapa syndromes D063748||syndrome alcapa D063748||syndrome bland white garland D000292||pelvic inflammatory disease D000292||adnexitis D000292||disease inflammatory pelvic D000292||disease pelvic inflammatory D000292||diseases inflammatory pelvic D000292||diseases pelvic inflammatory D000292||inflammatory disease pelvic D000292||inflammatory diseases pelvic D000292||inflammatory pelvic disease D000292||inflammatory pelvic diseases D000292||pelvic disease inflammatory D000292||pelvic diseases inflammatory D000292||pelvic inflammatory diseases C565908||bcg and salmonella infection disseminated D000291||adnexal diseases D000291||adnexal disease D000291||disease adnexal D000291||diseases adnexal C565909||bcg infection generalized familial semibenign autosomal dominant 107320|C531622||familial antiphospholipid syndrome 107320|C531622||antiphospholipid syndrome familial 107320|C531622||lupus anticoagulant familial 226980|C536739||wolcott rallison syndrome 226980|C536739||epiphyseal dysplasia multiple with early onset diabetes mellitus 226980|C536739||iddm med syndrome 226980|C536739||med iddm syndrome D013595||syringomyelia D013595||hydrosyringomyelia D013595||hydrosyringomyelias D013595||morvan diseases D013595||morvan apos s disease D013595||morvans disease D013595||morvan apos s diseases D013595||myelosyringoses D013595||myelosyringosis D013595||syringomyelias D013595||syringomyelus D013592||syphilis latent D013592||latent stage syphili D013592||latent stage syphilis D013592||latent syphilis D013592||syphili latent stage D013592||syphilis latent stage C535744|609180||congenital disorder of glycosylation type 1f C535744|609180||cdg1f C535744|609180||cdgif C535744|609180||cdg if C535744|609180||congenital disorder of glycosylation type if C562407|180920||aplasia of lacrimal and salivary glands C562407|180920||alsg C562407|180920||lacrimal puncta absence of included C562407|180920||salivary glands absence of C562407|180920||salivary glands absence of parotid aplasia or hypoplasia included C565910||bare lymphocyte syndrome type ii complementation group a C565910||bare lymphocyte syndrome type ii complementation group b C565910||bare lymphocyte syndrome type ii complementation group c C565910||bare lymphocyte syndrome type ii complementation group d C565910||bare lymphocyte syndrome type ii complementation group e C563657|610832||fanconi anemia complementation group n C563657|610832||fancn D012282||rickettsia infections D012282||infection rickettsia D012282||infections rickettsia D012282||rickettsia infection C567416|612109||oculoauricular syndrome C567416|612109||microphthalmia microcornea anterior segment dysgenesis cataract ocular coloboma retinal pigment epithelium abnormalities rod cone dystrophy and anomalies of the external ear C565916||bardet biedl syndrome 7 D063730||rickets hypophosphatemic D063730||acquired vitamin d resistant rickets D063730||hypophosphatemia vitamin d resistant rickets D063730||hypophosphatemic ricket D063730||hypophosphatemic rickets D063730||ricket hypophosphatemic D063730||rickets vitamin d resistant C565917||bardet biedl syndrome 8 C565918||bardet biedl syndrome 9 121800|C535475||corneal dystrophy crystalline of schnyder 121800|C535475||corneal dystrophy schnyder 121800|C535475||sccd 121800|C535475||schnyder corneal dystrophy 121800|C535475||schnyder crystalline corneal dystrophy C563697|609566||parietal foramina 3 C563697|609566||pfm3 C565919||bardet biedl syndrome 10 D000755|603903||anemia sickle cell D000755|603903||anemias sickle cell D000755|603903||cell disease sickle D000755|603903||cell diseases sickle D000755|603903||cell disorder sickle D000755|603903||cell disorders sickle D000755|603903||disease hemoglobin s D000755|603903||hbs disease D000755|603903||hemoglobin s disease D000755|603903||hemoglobin s diseases D000755|603903||sickle cell anemia D000755|603903||sickle cell anemias D000755|603903||sickle cell disease D000755|603903||sickle cell diseases D000755|603903||sickle cell disorder D000755|603903||sickle cell disorders D000755|603903||sickling disorder due to hemoglobin s C537209|267750||knobloch syndrome C537209|267750||kno C537209|267750||kno1 C537209|267750||knobloch syndrome 1 C537209|267750||knobloch syndrome type i C537209|267750||passos bueno syndrome C537209|267750||retinal detachment and occipital encephalocele C537209|267750||retinal detachment occipital encephalocele D012279||rickets D012279||rachitides D012279||rachitis C564602|607239||deafness autosomal recessive 33 C564602|607239||dfnb33 C563918|263400||erythrocytosis familial 2 C563918|263400||ecyt2 C563918|263400||erythrocytosis autosomal recessive benign C563918|263400||polycythemia chuvash type C563918|263400||polycythemia vhl dependent C535807|157900||moebius syndrome 1 C535807|157900||mbs C538303||chromosome 13 ring C538303||ring chromosome 13 C538302||chromosome 12p partial deletion C538302||12p monosomy partial C538302||deletion 12p12 p11 C538302||deletion 12p13 C538302||monosomy 12p11 C538302||monosomy 12p13 D013580||synostosis D013580||synostoses C567357|612292||birk barel mental retardation dysmorphism syndrome C567357|612292||birk barel syndrome C567357|612292||mental retardation with hypotonia and facial dysmorphism C538301||chromosome 12p deletion C538301||deletion 12p C538301||monosomy 12p C566900|611637||primary lateral sclerosis adult 1 C566900|611637||plsa C566900|611637||plsa1 C566900|611637||pls adult C538300||chromosome 12 trisomy 12q C538300||duplication 12q C538300||trisomy 12q 309200|C564108||major affective disorder 2 309200|C564108||mafd2 309200|C564108||manic depressive illness 309200|C564108||manic depressive psychosis x linked 309200|C564108||mdi 309200|C564108||mdx D000267||tissue adhesions D000267||adhesions surgery induced tissue D000267||adhesions surgical D000267||adhesions tissue D000267||adhesion surgery induced tissue D000267||adhesion surgical D000267||adhesion tissue D000267||surgery induced tissue adhesion D000267||surgery induced tissue adhesions D000267||surgical adhesion D000267||surgical adhesions D000267||tissue adhesion D000267||tissue adhesions surgery induced D000267||tissue adhesion surgery induced D063766||pediatric obesity D063766||adolescent obesity D063766||childhood obesity D063766|D009765||childhood onset obesity D063766||child obesity D063766||obesity adolescent D063766||obesity child D063766||obesity childhood D063766||obesity childhood onset D063766||obesity in adolescence D063766||obesity in childhood D063766||obesity pediatric D063766||onset obesity childhood D000270||adie syndrome D000270||adie apos s syndrome D000270||holmes adie syndrome D000270||poorly reacting pupil D000270||poorly reacting pupils D000270||pupil poorly reacting D000270||pupils poorly reacting D000270||syndrome adie D000270||syndrome adie apos s D000270||syndrome holmes adie C563856|608800||sudden infant death with dysgenesis of the testes syndrome C563856|608800||siddt D013576||syndactyly D013576||polysyndactyly D013576||syndactylia D013576||syndactylias D013576||syndactylies D013577||syndrome D013577||clusters symptom D013577||cluster symptom D013577||symptom cluster D013577||symptom clusters D013577||syndromes D013575||syncope D013575||attack drop D013575||cardiogenic syncope D013575||cardiogenic syncopes D013575||carotid sinus syncope D013575||carotid sinus syncopes D013575||convulsive syncope D013575||convulsive syncopes D013575||deglutitional syncope D013575||deglutitional syncopes D013575||drop attack D013575||drop attacks D013575||effort syncope D013575||effort syncopes D013575||episode syncopal D013575||fainting D013575||hyperventilation syncope D013575||hyperventilation syncopes D013575||micturition syncope D013575||micturition syncopes D013575||postural syncope D013575||postural syncopes D013575||presyncope D013575||presyncopes D013575||situational syncope D013575||situational syncopes D013575||stokes adams syncope D013575||stokes adams syncopes D013575||syncopal episode D013575||syncopal episodes D013575||syncopal vertigo D013575||syncope cardiogenic D013575||syncope carotid sinus D013575||syncope convulsive D013575||syncope deglutitional D013575||syncope effort D013575||syncope hyperventilation D013575||syncope micturition D013575||syncope postural D013575||syncopes D013575||syncopes cardiogenic D013575||syncopes carotid sinus D013575||syncopes convulsive D013575||syncopes deglutitional D013575||syncopes effort D013575||syncopes hyperventilation D013575||syncope situational D013575||syncopes micturition D013575||syncopes postural D013575||syncopes situational D013575||syncopes stokes adams D013575||syncope stokes adams D013575||syncopes tussive D013575||syncope tussive D013575||tussive syncope D013575||tussive syncopes D013575||vertigos syncopal D013575||vertigo syncopal C538310||chromosome 19 ring C538310||ring chromosome 19 300589||nystagmus 5 congenital x linked 300589||nys5 C538314||chromosome 2 monosomy 2pter p24 C538314||deletion 2pter p24 C538314||monosomy 2pter p24 D013590||syphilis congenital D013590||congenital syphilis D013590||hutchinson apos s teeth D013590||hutchinsons teeth D013590||hutchinson teeth D013590||teeth hutchinson apos s C538313||chromosome 2 monosomy 2p22 C538313||deletion 2p22 C538313||monosomy 2p22 D013591||syphilis cutaneous D013591||cutaneous syphilis D013591||skin syphilis D013591||syphilid D013591||syphilids D013591||syphilis skin C538312||chromosome 1q duplication 1q12 q21 C538312||duplication 1q12 q21 C538311||chromosome 19 trisomy 19q C538311||duplication 19q C538311||trisomy 19q D000274||adiposis dolorosa D000274||adiposalgia D000274||adipose tissue rheumatism D000274||anders syndrome D000274||dercum disease D000274||dercum apos s disease D000274||dercums disease D000274||disease dercum D000274||disease dercum apos s D000274||lipomatosis dolorosa D000274||morbus dercum D000275||adjustment disorders D000275||adjustment disorder D000275||anniversary reaction D000275||anniversary reactions D000275||depression reactive D000275||depressions reactive D000275||disorder adjustment D000275||disorder reactive D000275||disorders adjustment D000275||disorders reactive D000275||disturbances transient situational D000275||disturbance transient situational D000275||reaction anniversary D000275||reactions anniversary D000275||reactive depression D000275||reactive depressions D000275||reactive disorder D000275||reactive disorders D000275||situational disturbances transient D000275||situational disturbance transient D000275||transient situational disturbance D000275||transient situational disturbances D013589||syphilis cardiovascular D013589||aortitides syphilitic D013589||aortitis syphilitic D013589||cardiovascular syphilis D013589||syphilitic aortitides D013589||syphilitic aortitis C538307||chromosome 18 trisomy 18p C538307||duplication 18p C538307||trisomy 18p C538306||chromosome 18 tetrasomy 18p C538306||18p isochromosome C538306||18p tetrasomy C538306||isochromosome 18p C538306||tetrasomy 18p C538306||tetrasomy short arm of chromosome 18 D012253||rib fractures D012253||fracture rib D012253||fractures rib D012253||rib fracture C538305||chromosome 18 deletion 18q23 C538305||deletion 18q23 C538305||monosomy 18q23 D013581||synovial cyst D013581||cysts synovial D013581||cyst synovial D013581||synovial cysts C538304||chromosome 18 ring C538304||ring chromosome 18 D013587||syphilis D013587||great pox D013587||pox great D012257||riboflavin deficiency D012257||deficiencies riboflavin D012257||deficiency riboflavin D012257||riboflavin deficiencies C538309||chromosome 18p deletion syndrome C538309||18p deletion syndrome C538309||18p minus syndrome C538309||18p syndrome C538309||del 18p syndrome C538309||deletion 18p syndrome D013585||synovitis D013585||synovitides D000757|206500||anencephaly D000757|206500||absence of brain congenital D000757|206500||anencephalia D000757|206500||anencephalias D000757|206500||anencephalies partial D000757|206500||anencephalus D000757|206500||anencephaly hemicranial D000757|206500||anencephaly incomplete D000757|206500||anencephaly partial D000757|206500||aprosencephalies D000757|206500||aprosencephaly D000757|206500||brain congenital absence D000757|206500||congenital absence of brain D000757|206500||hemicranial anencephaly D000757|206500||incomplete anencephaly D000757|206500||partial anencephalies D000757|206500||partial anencephaly C538308||chromosome 18 trisomy 18q C538308||duplication 18q C538308||trisomy 18q D013586||synovitis pigmented villonodular D013586||pigmented villonodular synovitides D013586||pigmented villonodular synovitis D013586||synovitides pigmented villonodular D013586||villonodular synovitides pigmented D013586||villonodular synovitis pigmented 155755|C536149||melanoma astrocytoma syndrome 155755|C536149||cutaneous malignant melanoma and cerebral astrocytoma 155755|C536149||melanoma and neural system tumor syndrome C564732|278740||xeroderma pigmentosum complementation group e C564732|278740||xeroderma pigmentosum v C564732|278740||xp5 C564732|278740||xpe C564732|278740||xp group e 218800|D003414||crigler najjar syndrome 218800|D003414||crigler najar syndrome 218800|D003414||crigler najjar syndrome type 1 218800|D003414||crigler najjar syndrome type i 218800|D003414||familial nonhemolytic unconjugated hyperbilirubinemia 218800|D003414||hblrcn1 218800|D003414||hereditary unconjugated hyperbilirubinemia 218800|D003414||hyperbilirubinemia crigler najjar type i C563523|162210||neurofibromatosis familial spinal C563523|162210||fsnf C563209|601492||hyaluronidase deficiency C563209|601492||mps9 C563209|601492||mps ix C563209|601492||mucopolysaccharidosis type ix D006689|236000||hodgkin disease D006689|236000||adult hodgkin lymphoma D006689|236000||disease hodgkin D006689|236000||disease hodgkins D006689|236000||disease hodgkin apos s D006689|236000||granuloma hodgkin D006689|236000||granuloma hodgkins D006689|236000||granuloma hodgkin apos s D006689|236000||granuloma malignant D006689|236000||hodgkin granuloma D006689|236000||hodgkin lymphoma D006689|236000||hodgkin lymphoma adult D006689|236000||hodgkin apos s disease D006689|236000||hodgkins disease D006689|236000||hodgkin apos s granuloma D006689|236000||hodgkins granuloma D006689|236000||hodgkin apos s lymphoma D006689|236000||hodgkins lymphoma D006689|236000||lymphocyte depletion hodgkin apos s lymphoma D006689|236000||lymphocyte rich classical hodgkin apos s lymphoma D006689|236000||lymphogranuloma malignant D006689|236000||lymphogranulomas malignant D006689|236000||lymphoma hodgkin D006689|236000||lymphoma hodgkin apos s D006689|236000||malignant granuloma D006689|236000||malignant granulomas D006689|236000||malignant lymphogranuloma D006689|236000||malignant lymphogranulomas D006689|236000||mixed cellularity hodgkin apos s lymphoma D006689|236000||nodular lymphocyte predominant hodgkin apos s lymphoma D006689|236000||nodular sclerosing hodgkin apos s lymphoma D012227||rhinosporidiosis D012227||rhinosporidioses D012226||rhinoscleroma D012226||nasal scleroma D012226||nasal scleromas D012226||rhinoscleromas D012226||scleroma nasal D012226||scleromas nasal C563721|609432||syndactyly mesoaxial synostotic with phalangeal reduction C563721|609432||mssd C563721|609432||syndactyly malik percin type C563721|609432||syndactyly type ix C562467|153200||lymphedema hereditary ii C562467|153200||lymphedema late onset C562467|153200||lymphedema praecox C562467|153200||meige disease C562467|153200||meige lymphedema C567031|610997||prostate cancer hereditary 9 C567031|610997||hpc9 D012220||rhinitis D012220||catarrh nasal D012220||catarrhs nasal D012220||nasal catarrh D012220||nasal catarrhs D012220||rhinitides 611067|C567023||spinal muscular atrophy distal autosomal recessive 4 611067|C567023||dsma4 D012223||rhinitis vasomotor D012223||rhinitides vasomotor D012223||vasomotor rhinitides D012223||vasomotor rhinitis D013554||swine erysipelas D013554||erysipelas swine D051799||delayed graft function D051799||graft function delayed D012224||rhinophyma D012224||rhinophymas D013555||swine vesicular disease D013555||swine vesicular diseases D013555||vesicular diseases swine D013555||vesicular disease swine D014884||waterhouse friderichsen syndrome D014884||adrenalitides meningococcal hemorrhagic D014884||adrenalitis meningococcal hemorrhagic D014884||fulminant meningococcal sepsis with adrenal apoplexy D014884||hemorrhagic adrenalitides meningococcal D014884||hemorrhagic adrenalitis meningococcal D014884||meningococcal hemorrhagic adrenalitides D014884||meningococcal hemorrhagic adrenalitis D014884||meningococcal waterhouse friderichsen syndrome D014884||purpura fulminans waterhouse friderichsen syndrome D014884||syndrome meningococcal waterhouse friderichsen D014884||waterhouse friderichsen syndrome meningococcal D014884||waterhouse friederichsen syndrome D012221||rhinitis allergic perennial D012221||rhinitis allergic nonseasonal D014883||water electrolyte imbalance D014883||imbalances water electrolyte D014883||imbalance water electrolyte D014883||water electrolyte imbalances D012222||rhinitis atrophic D012222||atrophic rhinitides D012222||atrophic rhinitis D012222||ozena D012222||ozenas D012222||rhinitides atrophic D013553||swine diseases D013553||diseases swine D013553||disease swine D013553||swine disease C566602|601942||diabetes mellitus insulin dependent 10 C566602|601942||iddm10 C566602|601942||insulin dependent diabetes mellitus 10 D000258||adenovirus infections human D000258||adenovirus infection human D000258||fever pharyngo conjunctival D000258||human adenovirus infection D000258||human adenovirus infections D000258||infection human adenovirus D000258||infections human adenovirus D000258||pharyngo conjunctival fever D000257||adenoviridae infections D000257||adenoviridae infection D000257||adenovirus infection D000257||adenovirus infections D000257||infection adenoviridae D000257||infection adenovirus D000257||infections adenoviridae D000257||infections adenovirus 312550||retinal dysplasia primary 312550||prd D014899||wernicke encephalopathy D014899||beriberi cerebral D014899||cerebral beriberi D014899||encephalopathies wernicke D014899||encephalopathy gayet wernicke D014899||encephalopathy wernicke D014899||encephalopathy wernickes D014899||encephalopathy wernicke apos s D014899||gayet wernicke encephalopathy D014899||wernicke disease D014899||wernicke encephalopathies D014899||wernicke polioencephalitis superior hemorrhagic D014899||wernicke apos s disease D014899||wernicke apos s encephalopathy D014899||wernicke apos s polioencephalitis superior hemorrhagic D014899||wernicke apos s superior hemorrhagic polioencephalitis D014899||wernicke apos s syndrome D014899||wernicke superior hemorrhagic polioencephalitis D014899||wernicke syndrome 246560||chromosome 10q24 duplication syndrome 246560||shfm3 246560||shsf3 D013568||pathological conditions signs and symptoms D013568||symptoms and general pathology C536664|266510||peroxisome biogenesis disorders C536664|266510||pbd3b C536664|266510||peroxisome biogenesis disorder 3b D014895||weil disease D014895||disease weil D014895||disease weil apos s D014895||icterohemorrhagic leptospirosis D014895||jaundice spirochetal D014895||leptospirosis icterohemorrhagic D014895||spirochetal jaundice D014895||weil apos s disease D014895||weils disease D001478|109400||basal cell nevus syndrome D001478|109400||bcns D001478|109400||fifth phacomatoses D001478|109400||fifth phacomatosis D001478|109400||gorlin goltz syndrome D001478|109400||gorlin syndrome D001478|109400||multiple basal cell nevi odontogenic keratocysts and skeletal anomalies D001478|109400||nbccs D001478|109400||nevoid basal cell carcinoma syndrome D001478|109400||nevus syndrome basal cell D001478|109400||syndrome gorlin D001478|109400||syndrome gorlin goltz D000224||addison disease D000224||addison apos s disease D000224||addisons disease D000224||adrenal insufficiency primary D000224||adrenocortical insufficiencies primary D000224||adrenocortical insufficiency primary D000224||disease addison D000224||hypoadrenalism primary D000224||hypoadrenalisms primary D000224||insufficiencies primary adrenocortical D000224||insufficiency primary adrenocortical D000224||primary adrenal insufficiency D000224||primary adrenocortical insufficiencies D000224||primary adrenocortical insufficiency D000224||primary hypoadrenalism 400004|C564035||retinitis pigmentosa y linked 400004|C564035||rpy 117000|D020512||myopathy central core 117000|D020512|119600|D002973||ccd 117000|D020512||cco minicore myopathy moderate with hand involvement included 117000|D020512||central core disease 117000|D020512||central core disease of muscle 117000|D020512||central core diseases 117000|D020512||central core myopathies 117000|D020512||central core myopathy 117000|D020512||cnmdu1 included 117000|D020512||multicore myopathy moderate with hand involvement included 117000|D020512||multiminicore disease moderate with hand involvement included 117000|D020512||myopathies central core 117000|D020512||neuromuscular disease congenital with uniform type 1 fiber included 117000|D020512||shy magee syndrome 117000|D020512||syndrome shy magee 162000||fjhn 162000||hnfj 162000||hnfj1 C567809|613027||glycogen storage disease ixc C567809|613027||gsd9c C567809|613027||gsd ixc D012206||rhabdomyolysis D012206||rhabdomyolyses D012203||rh isoimmunization D012203||isoimmunization rh D012203||isoimmunization rhesus D012203||isoimmunizations rh D012203||isoimmunizations rhesus D012203||rhesus isoimmunization D012203||rhesus isoimmunizations D012203||rh isoimmunizations D012203||rh sensitization D012203||rh sensitizations D012203||sensitization rh D012203||sensitizations rh D012207||rhabdomyoma D012207||rhabdomyomas D014869||water intoxication C536458|177820||von willebrand disease platelet type C536458|177820||bdplt3 C536458|177820||bleeding disorder platelet type 3 C536458|177820||platelet type von willebrand disease C536458|177820||pseudo von willebrand disease C536458|177820||vwdp D012208||rhabdomyosarcoma D012208||rhabdomyosarcomas D014860||warts D014860||verruca D014860||verrucas D014860||wart D050488||hallux varus D050488||varus hallux C566936|611465||gallbladder disease 4 C566936|611465||gbd4 D012202||reye syndrome D012202||adult reye apos s syndrome D012202||adult reye syndrome D012202||fatty liver with encephalopathy D012202||reye johnson syndrome D012202||reye like syndrome D012202||reye apos s like syndrome D012202||reye apos s syndrome D012202||reye apos s syndrome adult D012202||reye syndrome adult D013530||surgical wound infection D013530||infection postoperative wound D013530||infections postoperative wound D013530||infections surgical wound D013530||infection surgical wound D013530||postoperative wound infection D013530||postoperative wound infections D013530||surgical wound infections D013530||wound infection postoperative D013530||wound infections postoperative D013530||wound infections surgical D013530||wound infection surgical D050489||bunion tailor apos s D050489||bunionette D050489||bunionettes D050489||bunions tailor apos s D050489||bunion tailors D050489||tailor apos s bunion D050489||tailors bunion D050489||tailor apos s bunions D000238||adenoma chromophobe D000238||adenomas chromophobe D000238||chromophobe adenoma D000238||chromophobe adenomas D000237||adenoma basophil D000237||adenoma basophilic D000237||adenomas basophil D000237||adenomas basophilic D000237||basophil adenoma D000237||basophil adenomas D000237||basophilic adenoma D000237||basophilic adenomas D000236||adenoma D000236||adenoma basal cell D000236||adenoma follicular D000236||adenoma microcystic D000236||adenoma monomorphic D000236||adenoma papillary D000236||adenomas D000236||adenomas basal cell D000236||adenomas follicular D000236||adenomas microcystic D000236||adenomas monomorphic D000236||adenomas papillary D000236||adenomas trabecular D000236||adenoma trabecular D000236||basal cell adenoma D000236||basal cell adenomas D000236||follicular adenoma D000236||follicular adenomas D000236||microcystic adenoma D000236||microcystic adenomas D000236||monomorphic adenoma D000236||monomorphic adenomas D000236||papillary adenoma D000236||papillary adenomas D000236||trabecular adenoma D000236||trabecular adenomas D000235||adenolymphoma D000235||adenolymphomas D000235||cystadenoma lymphomatosum papillary D000235||papillary cystadenoma lymphomatosum D000235||tumor warthin D000235||warthin tumor 607432|D054082||lissencephaly 607432|D054082||agyria 607432|D054082||agyrias 607432|D054082||broad gyri of cerebrum 607432|D054082||ils 607432|D054082||large gyri of cerebrum 607432|D054082||lis1 607432|D054082||lissencephalia 607432|D054082||lissencephalias 607432|D054082||lissencephalies 607432|D054082||lissencephaly classic subcortical laminar heterotopia included 607432|D054082||macrogyria 607432|D054082||pachygyria 607432|D054082||pachygyrias 607432|D054082||subcortical band heterotopia included C565748|604801||muscular dystrophy congenital 1b C565748|604801||mdc1b D000239||adenoma acidophil D000239||acidophil adenoma D000239||acidophil adenomas D000239||acidophilic adenoma D000239||acidophilic adenomas D000239||adenoma acidophilic D000239||adenoma eosinophil D000239||adenoma eosinophilic D000239||adenomas acidophil D000239||adenomas acidophilic D000239||adenomas eosinophil D000239||adenomas eosinophilic D000239||eosinophil adenoma D000239||eosinophil adenomas D000239||eosinophilic adenoma D000239||eosinophilic adenomas 300672|C564064||epileptic encephalopathy early infantile 2 300672|C564064||eiee2 300672|C564064||infantile spasm syndrome x linked 2 300672|C564064||issx2 300672|C564064||rett syndrome atypical cdkl5 related 300672|C564064||rett syndrome variant with infantile spasms D000230||adenocarcinoma D000230||adenocarcinoma basal cell D000230||adenocarcinoma granular cell D000230||adenocarcinoma oxyphilic D000230||adenocarcinomas D000230||adenocarcinomas basal cell D000230||adenocarcinomas granular cell D000230||adenocarcinomas oxyphilic D000230||adenocarcinomas tubular D000230||adenocarcinoma tubular D000230||adenoma malignant D000230||adenomas malignant D000230||basal cell adenocarcinoma D000230||basal cell adenocarcinomas D000230||carcinoma cribriform D000230||carcinoma granular cell D000230||carcinomas cribriform D000230||carcinomas granular cell D000230||carcinomas tubular D000230||carcinoma tubular D000230||cribriform carcinoma D000230||cribriform carcinomas D000230||granular cell adenocarcinoma D000230||granular cell adenocarcinomas D000230||granular cell carcinoma D000230||granular cell carcinomas D000230||malignant adenoma D000230||malignant adenomas D000230||oxyphilic adenocarcinoma D000230||oxyphilic adenocarcinomas D000230||tubular adenocarcinoma D000230||tubular adenocarcinomas D000230||tubular carcinoma D000230||tubular carcinomas 145980|C537145||hypocalciuric hypercalcemia familial type 1 145980|C537145||familial benign hypercalcemia 1 145980|C537145||familial benign hypercalcemia type 1 145980|C537145||familial hypocalciuric hypercalcemia 145980|C537145||fbh1 145980|C537145||fhh1 145980|C537145||hhc1 145980|C537145||hypercalcemia familial benign 145980|C537145||hypercalcemia familial benign hypocalciuric hypercalcemia acquired included 145980|C537145||hypercalcemia familial benign type 1 145980|C537145||hypocalciuric hypercalcemia familial type i D000232||adenofibroma D000232||adenofibromas D000232||fibroadenosis D000231||adenocarcinoma papillary D000231||adenocarcinomas papillary D000231||papillary adenocarcinoma D000231||papillary adenocarcinomas D012216||rheumatic diseases D012216||disease rheumatic D012216||diseases rheumatic D012216||enthesopathies D012216||enthesopathy D012216||rheumatic disease D012216||rheumatism D013547||sweating gustatory D013547||auriculotemporal nerve syndrome D013547||auriculotemporal syndrome D013547||baillarger syndrome D013547||frey apos s syndrome D013547||frey syndrome D013547||gustatory hyperhidroses D013547||gustatory hyperhidrosis D013547||gustatory sweating D013547||hyperhidroses gustatory D013547||hyperhidrosis gustatory D013547||salivosudoriparous syndrome D013547||salivosudoriparous syndromes D013547||syndrome auriculotemporal D013547||syndrome baillarger D013547||syndrome frey D013547||syndrome frey apos s D013547||syndrome salivosudoriparous D013547||syndromes salivosudoriparous D013547||syndrome von frey D013547||syndrome von frey apos s D013547||von frey apos s syndrome D013547||von freys syndrome D013547||von frey syndrome D012214||rheumatic heart disease D012214||bouillaud disease D012214||bouillaud apos s disease D012214||bouillauds disease D012214||disease bouillaud D012214||disease bouillaud apos s D012214||disease rheumatic heart D012214||diseases rheumatic heart D012214||heart disease rheumatic D012214||heart diseases rheumatic D012214||rheumatic heart diseases D045908||monkeypox D045908||monkey pox D012215||rheumatic nodule D012215||aschoff bodies D012215||bodies aschoff D012215||nodule rheumatic D012215||nodules rheumatic D012215||rheumatic nodules D012218||rheumatoid nodule D012218||nodule rheumatoid D012218||nodules rheumatoid D012218||rheumatoid nodules D012218||rheumatoid noduloses D012218||rheumatoid nodulosis D013540||swayback D013540||ataxia enzootic D013540||ataxias enzootic D013540||enzootic ataxia D013540||enzootic ataxias D013543||sweat gland diseases D013543||diseases sweat gland D013543||disease sweat gland D013543||sweat gland disease D012213||rheumatic fever D012213||acute articular rheumatism D012213||acute articular rheumatisms D012213||acute rheumatic arthritides D012213||acute rheumatic arthritis D012213||acute rheumatic fever D012213||acute rheumatic fevers D012213||arthritides acute rheumatic D012213||arthritis acute rheumatic D012213||arthritis rheumatic acute D012213||articular rheumatism acute D012213||articular rheumatisms acute D012213||fever acute rheumatic D012213||fever rheumatic D012213||fevers acute rheumatic D012213||fevers rheumatic D012213||inflammatory rheumatism D012213||polyarthritis rheumatica D012213||polyarthritis rheumaticas D012213||rheumatic arthritides acute D012213||rheumatic arthritis D012213||rheumatic arthritis acute D012213||rheumatic fever acute D012213||rheumatic fevers D012213||rheumatic fevers acute D012213||rheumatism acute articular D012213||rheumatism articular acute D012213||rheumatisms acute articular D013544||sweat gland neoplasms D013544||neoplasms sweat gland D013544||neoplasm sweat gland D013544||sweat gland neoplasm C563582|156850||microphthalmia isolated with cataract 1 C563582|156850||cataract congenital with microphthalmia C563582|156850||catm C563582|156850||mcopct1 C537484|604805||spastic paraplegia 12 autosomal dominant C537484|604805||spg12 C564249|608380||retinitis pigmentosa 26 C564249|608380||rp26 D002869||chromosome aberrations D002869||aberration chromosomal D002869||aberration chromosome D002869||aberration cytogenetic D002869||aberrations chromosomal D002869||aberrations chromosome D002869||aberrations cytogenetic D002869||abnormalities autosome D002869||abnormalities chromosomal D002869||abnormalities chromosome D002869||abnormalities cytogenetic D002869||abnormality autosome D002869||abnormality chromosomal D002869||abnormality chromosome D002869||abnormality cytogenetic D002869||autosome abnormalities D002869||autosome abnormality D002869||chromosomal aberration D002869||chromosomal aberrations D002869||chromosomal abnormalities D002869||chromosomal abnormality D002869||chromosome aberration D002869||chromosome abnormalities D002869||chromosome abnormality D002869||cytogenetic aberration D002869||cytogenetic aberrations D002869||cytogenetic abnormalities D002869||cytogenetic abnormality 150230|D015826||langer giedion syndrome 150230|D015826||acrodysplasia v 150230|D015826||acrodysplasia vs 150230|D015826||chromosome 8q24 1 deletion syndrome 150230|D015826||giedion langer syndrome 150230|D015826||lgs 150230|D015826||syndrome giedion langer 150230|D015826||syndrome langer giedion 150230|D015826||trichorhinophalangeal syndrome type 2 150230|D015826||trichorhinophalangeal syndrome type ii 150230|D015826||tricho rhino phalangeal syndrome type ii 150230|D015826||trichorhinophalangeal syndrome with exostoses 150230|D015826||trps2 150230|D015826||trpsii C537300|175700||greig cephalopolysyndactyly syndrome C537300|175700||cephalopolysyndactyly syndrome C537300|175700||gcps C537300|175700||greig cephalopolysyndactyly gcps syndrome C537300|175700||greig syndrome C537300|175700||polysyndactyly with peculiar skull shape D000208||acute disease D000208||acute diseases D000208||disease acute D000208||diseases acute D012514|148000||sarcoma kaposi D012514|148000||kaposi sarcoma D012514|148000||kaposi sarcoma susceptibility to D012514|148000||kaposi apos s sarcoma D012514|148000||kaposis sarcoma D012514|148000||mcd included D012514|148000||multiple idiopathic pigmented hemangiosarcoma D012514|148000||multiple idiopathic pigmented hemangiosarcoma susceptibility to multicentric castleman disease susceptibility to included D012514|148000||sarcoma kaposi apos s 613451||frontonasal dysplasia 2 613451||fnd2 613453||deafness autosomal recessive 91 613453||dfnb91 D002862||chromoblastomycosis D002862||chromoblastomycoses D002862||chromomycoses D002862||chromomycosis D002862||dermatitis verrucosa C537357|236250||methylenetetrahydrofolate reductase deficiency C537357|236250||homocystinuria due to deficiency of n 5 10 methylenetetrahydrofolate reductase activity C537357|236250||mthfr deficiency mthfr deficiency thermolabile type included 613454||rett syndrome congenital variant 613456||frontonasal dysplasia 3 613456||fnd3 D014846||vulvar neoplasms D014846||cancer of the vulva D014846||cancer of vulva D014846||cancers vulva D014846||cancers vulvar D014846||cancer vulva D014846||cancer vulvar D014846||neoplasms vulva D014846||neoplasms vulvar D014846||neoplasm vulva D014846||neoplasm vulvar D014846||vulva cancer D014846||vulva cancers D014846||vulva neoplasm D014846||vulva neoplasms D014846||vulvar cancer D014846||vulvar cancers D014846||vulvar neoplasm D014845||vulvar diseases D014845||diseases vulvar D014845||disease vulvar D014845||vulvar disease 612126||glut1 deficiency syndrome 2 612126||dyt18 612126||glut1ds2 612126||paroxysmal exercise induced dyskinesia with or without epilepsy and or hemolytic anemia 612126||paroxysmal exertion induced dystonia with or without epilepsy and or hemolytic anemia 612126||ped with or without epilepsy and or hemolytic anemia 146850||immune suppression 146850||is 146850||iscw 146850||isscw 146850||streptococcal cell wall antigen suppression of immune response to D014843||voyeurism D014843||voyeurisms 612124||cardiomyopathy familial hypertrophic 12 612124||cmh12 D014848||vulvovaginitis D014848||vulvovaginitides D030401|220110||cytochrome c oxidase deficiency D030401|220110||complex iv deficiencies D030401|220110||complex iv deficiency D030401|220110||cox deficiencies D030401|220110||cox deficiency D030401|220110||cytochrome c oxidase deficiencies D030401|220110||cytochrome oxidase deficiencies D030401|220110||cytochrome oxidase deficiency D030401|220110||deficiencies complex iv D030401|220110||deficiencies cox D030401|220110||deficiencies cytochrome c oxidase D030401|220110||deficiencies cytochrome oxidase D030401|220110||deficiency complex iv D030401|220110||deficiency cox D030401|220110||deficiency cytochrome c oxidase D030401|220110||deficiency cytochrome oxidase D030401|220110||mitochondrial complex iv deficiency D030401|220110||oxidase deficiencies cytochrome D030401|220110||oxidase deficiencies cytochrome c D030401|220110||oxidase deficiency cytochrome D030401|220110||oxidase deficiency cytochrome c D014847||vulvitis D014847||vulvitides C566158|116200||cataract zonular pulverulent 1 C566158|116200||cae1 C566158|116200||cataract 1 multiple types C566158|116200||cataract 1 multiple types with or without microcornea C566158|116200||cataract duffy linked C566158|116200||ctrct1 C566158|116200||czp C566158|116200||czp1 C566158|116200||pulverulent zonular cataract D014842||von willebrand diseases D014842||angiohemophilia D014842||angiohemophilias D014842||disorder von willebrand D014842||hemophilia vascular D014842||pseudohemophilias vascular D014842||pseudohemophilia vascular D014842||vascular hemophilia D014842||vascular hemophilias D014842||vascular pseudohemophilia D014842||vascular pseudohemophilias D014842||von willebrand disease D014842||von willebrand disease recessive form D014842||von willebrand disorder D014842||von willebrand apos s disease D014842||von willebrand apos s diseases D014842||von willebrand apos s factor deficiency D014840||vomiting anticipatory D014840||anticipatory vomiting C566435|610539||gaucher disease atypical due to saposin c deficiency C537172|168400||parastremmatic dwarfism C537172|168400||parastremmatic dysplasia D000219||adams stokes syndrome D000219||adam stokes attacks D000219||attacks adam stokes D000219||attacks stokes adams D000219||stokes adams attacks D000219||stokes adams syndrome D000219||syndrome adams stokes D000219||syndrome stokes adams 151660|D052496||lipodystrophy familial partial 151660|D052496||dunnigan syndrome 151660|D052496||familial partial lipodystrophies 151660|D052496||familial partial lipodystrophy 151660|D052496||familial partial lipodystrophy kobberling type 151660|D052496||familial partial lipodystrophy type 1 151660|D052496||familial partial lipodystrophy type 2 151660|D052496||familial partial lipodystrophy type 3 151660|D052496||fpl2 151660|D052496||fpld2 151660|D052496||fpld3 151660|D052496||koberling dunnigan syndrome 151660|D052496||lipodystrophies familial partial 151660|D052496||lipodystrophies reverse partial 151660|D052496||lipodystrophy familial of limbs and lower trunk 151660|D052496||lipodystrophy familial partial associated with pparg mutations 151660|D052496||lipodystrophy familial partial dunnigan type 151660|D052496||lipodystrophy familial partial kobberling type 151660|D052496||lipodystrophy familial partial type 1 151660|D052496||lipodystrophy familial partial type 2 151660|D052496||lipodystrophy familial partial type 3 151660|D052496||lipodystrophy reverse partial 151660|D052496||partial lipodystrophies familial 151660|D052496||partial lipodystrophies reverse 151660|D052496||partial lipodystrophy familial 151660|D052496||partial lipodystrophy reverse 151660|D052496||reverse partial lipodystrophies 151660|D052496||reverse partial lipodystrophy 151660|D052496||syndrome dunnigan C537757|220150||renal hypouricemia C537757|220150||dalmatian hypouricemia C537757|220150||hypouricemia renal C537757|220150||hypouricemia renal 1 C537757|220150||rhuc1 D019896|613490||alpha 1 antitrypsin deficiencies D019896|613490||deficiencies alpha 1 antitrypsin D019896|613490||deficiency alpha 1 antitrypsin D002872||chromosome deletion D002872||deletion chromosome D002872||deletions chromosome D002872||monosomies partial D002872||monosomy partial D002872||partial monosomies D002872||partial monosomy D002873||chromosome fragility D002873||chromosomal fragility D002873||fragility chromosomal D002873||fragility chromosome 613443||mental retardation autosomal dominant 20 613443||mental retardation stereotypic movements epilepsy and or cerebral malformations chromosome 5q14 3 deletion syndrome included 613443||mrd20 D000210||acute phase reaction D000210||acute phase response D000210||acute phase state D000210||reaction acute phase D000210||response acute phase D000210||state acute phase C562429|174200||polydactyly postaxial C562429|174200||papa C562429|174200||papa1 C562429|174200||papb included C562429|174200||polydactyly postaxial postaxial polydactyly type b included C562429|174200||polydactyly postaxial type a1 C562429|174200||postaxial polydactyly type a C562429|174200||postaxial polydactyly type b C537380|610017||multiple synostoses syndrome 2 C537380|610017||syns2 C566619|601813||exudative vitreoretinopathy 4 C566619|601813||evr4 C567853|603513||cerebral palsy spastic quadriplegic 1 C567853|603513||cpsq1 D014855||wallerian degeneration D014855||degeneration wallerian C566438|610127||ceroid lipofuscinosis neuronal 10 C566438|610127||ceroid lipofuscinosis neuronal cathepsin d deficient C566438|610127||cln10 C566438|610127||neuronal ceroid lipofuscinosis congenital C566438|610127||neuronal ceroid lipofuscinosis due to cathepsin d deficiency C566438|610127||neuronal ceroid lipofuscinosis due to cathepsin d deficiency neuronal ceroid lipofuscinosis congenital included D014854||lateral medullary syndrome D014854||dorsolateral medullary syndrome D014854||lateral bulbar syndrome D014854||lateral medullary syndromes D014854||medullary syndrome dorsolateral D014854||posterior inferior cerebellar artery syndrome D014854||syndromes lateral medullary D014854||syndrome vieseaux wallenberg D014854||syndrome wallenberg D014854||vieseaux wallenberg syndrome D014854||wallenberg apos s syndrome D014854||wallenbergs syndrome D014854||wallenberg syndrome D013529||surgical wound dehiscence D013529||dehiscence surgical wound D013529||wound dehiscence surgical 604060|C565828||deafness autosomal recessive 20 604060|C565828||dfnb20 C563843|608874||orofacial cleft 5 C563843|608874||cleft lip with or without cleft palate nonsyndromic 5 C563843|608874||ofc5 C535942|602082||corneal dystrophy thiel behnke type C535942|602082||cdb2 C535942|602082||cdtb C535942|602082||corneal dystrophy honeycomb shaped C535942|602082||corneal dystrophy of bowman layer type ii C535942|602082||corneal dystrophy of the bowman layer type 2 C535942|602082||tbcd C535942|602082||thiel behnke corneal dystrophy C537251|608898||hemophagocytic lymphohistiocytosis familial 3 C537251|608898||fhl3 C537251|608898||hlh3 C537251|608898||hplh3 253700|C535900||limb girdle muscular dystrophy type 2c 253700|C535900||adhalin deficiency secondary 253700|C535900||dmda 253700|C535900||dmda1 253700|C535900||duchenne like muscular dystrophy autosomal recessive type 1 253700|C535900||gamma sarcoglycanopathy 253700|C535900||lgmd2c 253700|C535900||limb girdle muscular dystrophy with gamma sarcoglycan deficiency 253700|C535900||maghrebian myopathy 253700|C535900||muscular dystrophy duchenne like 253700|C535900||muscular dystrophy limb girdle type 2c 253700|C535900||sarcoglycan gamma deficiency of 253700|C535900||scarmd 253700|C535900||severe childhood autosomal recessive muscular dystrophy north african type C563323|601407||diabetes mellitus noninsulin dependent 2 C563323|601407||niddm2 C563323|601407||noninsulin dependent diabetes mellitus 2 C567468|300718||myopathy reducing body x linked childhood onset 613435||amyotrophic lateral sclerosis 12 613435||als12 D014823||vitreous hemorrhage D014823||hemorrhage vitreous D014823||vitreous hemorrhages 613428||retinitis pigmentosa 54 613428||rp54 C567737|613116||thrombophilia due to elevated histidine rich glycoprotein C567737|613116||thph11 C567737|613116||thrombophilia due to elevated histidine rich glycoprotein included C567737|613116||thrombophilia due to histidine rich glycoprotein deficiency D014826||vocal cord paralysis D014826||acquired vocal cord palsy D014826||bilateral vocal cord paresis D014826||congenital vocal cord palsy D014826||laryngeal nerve palsy recurrent D014826||laryngeal paralyses D014826||laryngeal paralysis D014826||palsies vocal cord D014826||palsies vocal fold D014826||palsy vocal cord D014826||palsy vocal fold D014826||paralyses laryngeal D014826||paralyses vocal cord D014826||paralysis laryngeal D014826||paralysis unilateral vocal cord D014826||paralysis vocal cord D014826||paralysis vocal cord unilateral D014826||pareses vocal cord D014826||paresis vocal cord D014826||partial paralysis paresis vocal cords D014826||recurrent laryngeal nerve palsy D014826||total vocal cord paralysis D014826||unilateral paralysis vocal cord D014826||unilateral vocal cord paralysis D014826||unilateral vocal cord paresis D014826||vocal cord palsies D014826||vocal cord palsy D014826||vocal cord palsy congenital D014826||vocal cord paralyses D014826||vocal cord paralysis unilateral D014826||vocal cord pareses D014826||vocal cord paresis D014826||vocal fold palsies D014826||vocal fold palsy 612577|C567244||amyotrophic lateral sclerosis 11 612577|C567244||als11 C562551|127600||dyskeratosis hereditary benign intraepithelial C562551|127600||dkbi C562551|127600||hbid C535729|127400||dyschromatosis symmetrica hereditaria 1 C535729|127400||dsh C535729|127400||dsh1 C535729|127400||dyschromatosis symmetrica hereditaria C535729|127400||familial reticulate acropigmentation of dohi C535729|127400||rad C535729|127400||reticulate acropigmentation of dohi C535729|127400||symmetric dyschromatosis of the extremities D057910||implant capsular contracture D057910||capsular contracture implant D057910||contracture implant capsular C536937|181450||ulnar mammary syndrome C536937|181450||pallister ulnar mammary syndrome C536937|181450||schinzel syndrome C536937|181450||ulnar mammary syndrome of pallister C536937|181450||ums D001523||mental disorders D001523||behavior disorders D001523||diagnosis psychiatric D001523||disorder mental D001523||disorders behavior D001523||disorders mental D001523||mental disorder D001523||psychiatric diagnosis C536169|112250||diaphyseal medullary stenosis with malignant fibrous histiocytoma C536169|112250||bdmf C536169|112250||bone dysplasia with malignant fibrous histiocytoma C536169|112250||bone dysplasia with medullary fibrosarcoma C536169|112250||dmsmfh C564953|256730||ceroid lipofuscinosis neuronal 1 C564953|256730||ceroid lipofuscinosis neuronal 1 variable age at onset C564953|256730||ceroid lipofuscinosis neuronal 1 variable age at onset neuronal ceroid lipofuscinosis infantile included C564953|256730||cln1 C564953|256730||incl included C564953|256730||santavuori disease included C564953|256730||santavuori haltia disease included 119600|D002973||cleidocranial dysplasia 119600|D002973||cleidocranial digital dysostoses 119600|D002973||cleidocranial digital dysostosis 119600|D002973||cleidocranial dysostoses 119600|D002973||cleidocranial dysostosis 119600|D002973||cleidocranial dysostosis clcd cleidocranial dysplasia forme fruste with brachydactyly included 119600|D002973||cleidocranial dysplasia forme fruste dental anomalies only included 119600|D002973||cleidocranial dysplasias 119600|D002973||dysostoses cleidocranial 119600|D002973||dysostoses cleidocranial digital 119600|D002973||dysostosis cleidocranial 119600|D002973||dysostosis cleidocranial digital 119600|D002973||dysplasia cleidocranial 119600|D002973||dysplasias cleidocranial 119600|D002973||marie sainton syndrome 119600|D002973||scheuthauer marie sainton syndrome 119600|D002973||syndrome marie sainton 119600|D002973||syndrome scheuthauer marie sainton C563827|608932||keratoconus 2 C563827|608932||ktcn2 C566482|610042||cortical dysplasia focal epilepsy syndrome C566482|610042||cdfe syndrome pitt hopkins like syndrome 1 included C566482|610042||pthsl1 included D014832||voice disorders D014832||disturbances voice D014832||disturbance voice D014832||fatigues voice D014832||fatigue voice D014832||neurologic voice disorder D014832||neurologic voice disorders D014832||voice disorder D014832||voice disorder neurologic D014832||voice disorders neurologic D014832||voice disturbance D014832||voice disturbances D014832||voice fatigue D014832||voice fatigues 613418||bone mineral density quantitative trait locus 15 613418||bmnd15 613418||compression fracture susceptibility to 613418||metaphyseal fracture susceptibility to 613418||osteoporosis susceptibility to D014839||vomiting D014839||emesis C563866|608751||cardiomyopathy familial hypertrophic 8 C563866|608751||cardiomyopathy hypertrophic mid left ventricular chamber type 1 C563866|608751||cmh8 D016649|311360||primary ovarian insufficiency D016649|311360||fmr1 related primary ovarian insufficiency D016649|311360||fragile x associated primary ovarian insufficiency D016649|311360||gonadotropin resistant ovary syndrome D016649|311360||hypergonadotropic ovarian failure x linked D016649|311360||insufficiency primary ovarian D016649|311360||ovarian failure premature D016649|311360||ovarian insufficiency primary D016649|311360||pof D016649|311360||pof1 D016649|311360||pofx D016649|311360||premature ovarian failure D016649|311360||premature ovarian failure 1 D016649|311360||premature ovarian failure x linked D016649|311360||resistant ovary syndrome D016649|311360||x linked hypergonadotropic ovarian failure 607541|C535474||corneal dystrophy avellino type 607541|C535474||acd 607541|C535474||avellino corneal dystrophy 607541|C535474||cda 607541|C535474||cgd2 607541|C535474||combined granular lattice corneal dystrophies 607541|C535474||combined granular lattice corneal dystrophy 607541|C535474||granular and lattice corneal dystrophies 607541|C535474||granular corneal dystrophy type 2 607541|C535474||granular corneal dystrophy type ii 607541|C535474||granular lattice avellino corneal dystrophy D057925||femoracetabular impingement D057925||femoracetabular impingements D057925||femoroacetabular impingement D057925||femoro acetabular impingement D057925||femoroacetabular impingements D057925||femoro acetabular impingements D057925||femoroacetabular impingement syndrome D057925||femoroacetabular impingement syndromes D057925||impingement femoracetabular D057925||impingement femoroacetabular D057925||impingement femoro acetabular D057925||impingements femoracetabular D057925||impingements femoroacetabular D057925||impingements femoro acetabular D057925||impingement syndrome femoroacetabular D057925||impingement syndromes femoroacetabular D057925||syndrome femoroacetabular impingement D057925||syndromes femoroacetabular impingement D017086||beta thalassemia D017086||anemia cooley D017086||anemia cooleys D017086||anemia cooley apos s D017086||anemia erythroblastic D017086||anemia mediterranean D017086||anemias erythroblastic D017086||anemias mediterranean D017086||beta thalassemias D017086||beta type microcytemia D017086||beta type microcytemias D017086||beta type thalassemia D017086||beta type thalassemias D017086||cooley apos s anemia D017086||disease hemoglobin f D017086||erythroblastic anemia D017086||hemoglobin f disease D017086||intermedias thalassemia D017086||intermedia thalassemia D017086||majors thalassemia beta thalassemia major D017086||major thalassemia beta thalassemia major D017086||mediterranean anemia D017086||mediterranean anemias D017086||microcytemia beta type D017086||microcytemias beta type D017086||minors thalassemia beta thalassemia minor D017086||minor thalassemia beta thalassemia minor D017086||thalassemia beta D017086||thalassemia beta type D017086||thalassemia intermedia D017086||thalassemia intermedias D017086||thalassemia major D017086||thalassemia major beta thalassemia major D017086||thalassemia majors beta thalassemia major D017086||thalassemia minor D017086||thalassemia minor beta thalassemia minor D017086||thalassemia minors beta thalassemia minor D017086||thalassemias beta D017086||thalassemias beta type D017086||type microcytemia beta D017086||type microcytemias beta D017086||type thalassemia beta D017086||type thalassemias beta D002825||chorioretinitis D002825||chorioretinitides D017088||aids related opportunistic infections D017088||aids related opportunistic infection D017088||hiv related opportunistic infection D017088||hiv related opportunistic infections D017088||infection hiv related opportunistic D017088||infections hiv related opportunistic D017088||opportunistic infection aids related D017088||opportunistic infection hiv related D017088||opportunistic infections aids related D017088||opportunistic infections hiv related D002820||hydatidiform mole invasive D002820||chorioadenoma D002820||chorioadenomas D002820||hydatidiform moles invasive D002820||invasive hydatidiform mole D002820||invasive hydatidiform moles D002820||invasive mole D002820||invasive moles D002820||mole invasive D002820||mole invasive hydatidiform D002820||moles invasive D002820||moles invasive hydatidiform C563754|609266||li fraumeni syndrome 3 C563754|609266||lfs3 D002821||chorioamnionitis D002821||amnionitides D002821||amnionitis D002821||chorioamnionitides D002821||funisitides D002821||funisitis D002822||choriocarcinoma D002822||choriocarcinomas C567856|612938||growth retardation developmental delay coarse facies and early death C567856|612938||gdfd D014808||vitamin d deficiency D014808||deficiencies vitamin d D014808||deficiency vitamin d D014808||vitamin d deficiencies 277440|C562794||vitamin d dependent rickets type 2a 277440|C562794||hvdrr 277440|C562794||pddr iia 277440|C562794||pseudovitamin d deficiency type iia 277440|C562794||rickets alopecia syndrome 277440|C562794||vddr2a 277440|C562794||vitamin d dependent rickets type 2a with or without alopecia D014802||vitamin a deficiency D014802||deficiencies vitamin a D014802||deficiency vitamin a D014802||vitamin a deficiencies D014806||vitamin b 12 deficiency D014806||deficiencies vitamin b12 D014806||deficiency vitamin b12 D014806||deficiency vitamin b 12 D014806||vitamin b12 deficiencies D014806||vitamin b12 deficiency D014804||vitamin b deficiency D014804||deficiencies vitamin b D014804||deficiency vitamin b D014804||vitamin b deficiencies D002828||choristoma D002828||aberrant tissue D002828||aberrant tissues D002828||choristomas D002828||ectopic tissue D002828||ectopic tissues D002828||heterotopic tissue D002828||heterotopic tissues D002828||tissue aberrant D002828||tissue ectopic D002828||tissue heterotopic D002828||tissues aberrant D002828||tissues ectopic D002828||tissues heterotopic D017098||iga deficiency D017098||deficiencies iga D017098||deficiency iga D017098||iga deficiencies D017099||igg deficiency D017099||deficiencies igg D017099||deficiency igg D017099||igg deficiencies C537884|604229||peters anomaly 601419||myopathy myofibrillar 1 601419||arrhythmogenic right ventricular cardiomyopathy 7 formerly 601419||arrhythmogenic right ventricular dysplasia familial 7 formerly 601419||arvc7 formerly 601419||arvd7 formerly 601419||cardiomyopathy dilated 1f and limb girdle muscular dystrophy type 1d formerly 601419||cardiomyopathy dilated with conduction defect and muscular dystrophy 601419||cdcd3 formerly 601419||cmd1f and lgmd1d formerly 601419||drm 601419||ibm1 formerly 601419||inclusion body myopathy 1 autosomal dominant formerly 601419||mfm1 D017093||liver failure D017093||hepatic failure D017094||porphyrias hepatic D017094||hepatic porphyria D017094||hepatic porphyrias D017094||porphyria hepatic D002832||choroid hemorrhage D002832||choroidal hemorrhage D002832||choroidal hemorrhages D002832||hemorrhage choroid D002832||hemorrhage choroidal D002833||choroiditis D002833||choroiditides D017096||prion diseases D017096||dementias transmissible D017096||dementia transmissible D017096||disorder prion induced D017096||disorders prion induced D017096||encephalopathies spongiform transmissible D017096||encephalopathies transmissible spongiform D017096||encephalopathy transmissible spongiform D017096||human transmissible spongiform encephalopathies inherited D017096||inherited human transmissible spongiform encephalopathies D017096||prion associated disorders D017096||prion disease D017096||prion induced disorder D017096||prion induced disorders D017096||prion protein disease D017096||prion protein diseases D017096||spongiform encephalopathies transmissible D017096||spongiform encephalopathy transmissible D017096||transmissible dementia D017096||transmissible dementias D017096||transmissible spongiform encephalopathies D017096||transmissible spongiform encephalopathy D017091||colitis ischemic D017091||ischemic colitis D002830||choroid neoplasms D002830||choroidal neoplasm D002830||choroidal neoplasms D002830||choroid neoplasm D002830||neoplasm choroid D002830||neoplasm choroidal D002830||neoplasms choroid D002830||neoplasms choroidal C567426|612076||hypouricemia renal 2 C567426|612076||gout2 included C567426|612076||gout susceptibility 2 included C567426|612076||rhuc2 C567426|612076||uaqtl2 included C567426|612076||uric acid concentration serum quantitative trait locus 2 included C567233|612622||diabetes mellitus insulin dependent 23 C567233|612622||iddm23 C565776|604400||arrhythmogenic right ventricular dysplasia familial 5 C565776|604400||arrhythmogenic right ventricular cardiomyopathy 5 C565776|604400||arvc5 C565776|604400||arvd5 613402||epileptic encephalopathy early infantile 10 613402||eiee10 613402||mcsz 613402||microcephaly seizures and developmental delay C562937|146000||hypochondroplasia C562937|146000||hch C562937|146000||hypochondrodysplasia 146820||immune response to synthetic polypeptide irgat 146820||igat D014813||vitamin k deficiency D014813||deficiencies vitamin k D014813||deficiency vitamin k D014813||vitamin k deficiencies D014811||vitamin e deficiency D014811||deficiencies vitamin e D014811||deficiency vitamin e D014811||vitamin e deficiencies C537202|608703||spinocerebellar ataxia 25 C537202|608703||sca25 C537202|608703||spinocerebellar ataxia type 25 C537493|604841||stickler syndrome type 2 C537493|604841||stickler syndrome beaded vitreous type C537493|604841||stickler syndrome type ii C537493|604841||stickler syndrome vitreous type 2 C537493|604841||stl2 D002804||chondroblastoma D002804||chondroblastomas D002805||chondrocalcinosis D002805||calcium pyrophosphate dihydrate deposition D002805||chondrocalcinoses D002805||pseudogout C565322|605549||cone rod dystrophy 8 C565322|605549||cord8 C566383|603383||glaucoma 1 open angle f C566383|603383||glc1f 270200|D016111||sjogren larsson syndrome 270200|D016111||congenital icthyosis mental retardation spasticity syndrome 270200|D016111||faldh deficiency 270200|D016111||fatty alcohol nad oxidoreductase deficiency 270200|D016111||fatty aldehyde dehydrogenase deficiency 270200|D016111||fatty aldehyde dehydrogenase deficiency disease 270200|D016111||ichthyosis oligophrenia syndrome 270200|D016111||ichthyosis spastic neurologic disorder and oligophrenia 270200|D016111||sj 246 gren larsson syndrome 270200|D016111||sls C536119|607625||niemann pick disease type c2 C536119|607625||npc2 D005084||exhibitionism D005084||exhibitionisms 305390||exudative vitreoretinopathy 2 x linked 305390||evr2 305390||evrx 305390||fevrx C537833|153870||macular dystrophy concentric annular C537833|153870||bcamd C537833|153870||macular dystrophy benign concentric annular C537833|153870||maculopathy bull apos s eye C537833|153870||mcdca D056627||peritoneal fibrosis D056627||encapsulating peritoneal scleroses D056627||encapsulating peritoneal sclerosis D056627||fibroses peritoneal D056627||fibrosing syndrome peritoneal D056627||fibrosing syndromes peritoneal D056627||fibrosis peritoneal D056627||peritoneal fibroses D056627||peritoneal fibrosing syndrome D056627||peritoneal fibrosing syndromes D056627||peritoneal scleroses D056627||peritoneal scleroses encapsulating D056627||peritoneal sclerosis D056627||peritoneal sclerosis encapsulating D056627||scleroses encapsulating peritoneal D056627||scleroses peritoneal D056627||sclerosis encapsulating peritoneal D056627||sclerosis peritoneal D056627||syndrome peritoneal fibrosing D056627||syndromes peritoneal fibrosing C567678|613267||corneal dystrophy fuchs endothelial 3 C567678|613267||fcd2 locus C567678|613267||fecd3 D002806||chondrodysplasia punctata D002806||chondrodysplasia punctata 2 x linked D002806||chondrodystrophia calcificans congenita D002806||conradi h 252 nermann happle syndrome D002806||conradi hunermann happle syndromes D002806||conradi h 252 nermann happle syndromes D002806||conradi h 252 nermann syndrome D002806||conradi h 252 nermann syndromes D002806||dysplasia epiphysialis punctata D002806||epiphyses stippled D002806||hunermann conradi syndrome D002806||stippled epiphyses D002806||syndrome conradi hunermann D002806||syndrome conradi h 252 nermann D002806||syndrome conradi hunermann happle D002806||syndrome conradi h 252 nermann happle D002806||syndrome happle D002806||syndrome hunermann conradi D002806||syndromes conradi h 252 nermann D002806||syndromes conradi hunermann happle D002806||syndromes conradi h 252 nermann happle D002806||x linked chondrodysplasia punctata 2 D002806||x linked dominant chondrodysplasia punctata D031368||zoster sine herpete D031368||zoster sine eruptione 257270|613216||csnb complete autosomal recessive D001145|115000||arrhythmias cardiac D001145|115000||arrhythmia D001145|115000||arrhythmia cardiac D001145|115000||arrythmia D001145|115000||cardiac arrhythmia D001145|115000||cardiac arrhythmias D001145|115000||cardiac dysrhythmia D001145|115000||dysrhythmia cardiac D001145|115000|D005117||extrasystoles D002812||chondroma D002812||chondromas D002812||enchondroma D002812||enchondromas C563177|103900||glucocorticoid remediable aldosteronism C563177|103900||acth dependent hyperaldosteronism syndrome C563177|103900||aldosteronism sensitive to dexamethasone C563177|103900||fh i C563177|103900||glucocorticoid suppressible hyperaldosteronism C563177|103900||gra C563177|103900||gsh C563177|103900||hyperaldosteronism familial type i C566913|611572||otosclerosis 7 C566913|611572||otsc7 182940|D009436||neural tube defects 182940|D009436||acrania 182940|D009436||acranias 182940|D009436||craniorachischises 182940|D009436||craniorachischisis 182940|D009436||cyst neurenteric 182940|D009436||cyst neuroenteric 182940|D009436||cysts neurenteric 182940|D009436||cysts neuroenteric 182940|D009436||defect neural tube 182940|D009436||defects neural tube 182940|D009436||developmental defects neural tube 182940|D009436||developmental neural tube defects 182940|D009436||diastematomyelia 182940|D009436||diastematomyelias 182940|D009436||dysraphism occult spinal 182940|D009436||dysraphisms occult spinal 182940|D009436||exencephalies 182940|D009436||exencephaly 182940|D009436||iniencephalies 182940|D009436||iniencephaly 182940|D009436||myelodysplasia spinal cord 182940|D009436||myelodysplasias spinal cord 182940|D009436||neural tube defect 182940|D009436||neural tube developmental defects 182940|D009436||neurenteric cyst 182940|D009436||neurenteric cysts 182940|D009436||neuroenteric cyst 182940|D009436||neuroenteric cysts 182940|D009436||ntd spina bifida included 182940|D009436||occult spinal dysraphism 182940|D009436||occult spinal dysraphisms 182940|D009436||occult spinal dysraphism sequence 182940|D009436||spinal cord myelodysplasia 182940|D009436||spinal cord myelodysplasias 182940|D009436||spinal dysraphism occult 182940|D009436||spinal dysraphisms occult 182940|D009436||tethered cord syndrome 182940|D009436||tethered cord syndromes 182940|D009436||tethered spinal cord syndrome D005097||exostoses multiple hereditary D005097||aclases diaphyseal D005097||aclasis diaphyseal D005097||bessel hagen disease D005097||cartilaginous exostoses multiple D005097||cartilaginous exostosis multiple D005097||chondrodysplasia hereditary deforming D005097||chondrodysplasias hereditary deforming D005097||deforming chondrodysplasia hereditary D005097||deforming chondrodysplasias hereditary D005097||diaphyseal aclases D005097|133700||diaphyseal aclasis D005097||exostoses familial D005097||exostoses hereditary multiple D005097||exostoses multiple D005097||exostoses multiple cartilaginous D005097|133700||exostoses multiple type i D005097||exostosis familial D005097||exostosis hereditary multiple D005097||exostosis multiple D005097||exostosis multiple cartilaginous D005097||familial exostoses D005097||familial exostosis D005097||hereditary deforming chondrodysplasia D005097||hereditary deforming chondrodysplasias D005097||hereditary exostoses multiple D005097||hereditary multiple exostoses D005097||hereditary multiple exostosis D005097|133700||multiple cartilaginous exostoses D005097||multiple cartilaginous exostosis D005097||multiple exostoses D005097||multiple exostoses hereditary D005097||multiple exostosis D005097||multiple exostosis hereditary D005097||multiple hereditary exostoses D005097||multiple osteochondroma D005097|133700||multiple osteochondromas D005097||multiple osteochondromatosis D005097||osteochondroma multiple D005097||osteochondromas multiple D005096||exostoses D005096||exostosis D005099||exotropia D005099||alternating exotropia D005099||divergent strabismus D005099||exodeviation D005099||exodeviations D005099||exophoria D005099||exotropia alternating D005099||exotropia monocular D005099||exotropia primary D005099||exotropia secondary D005099||monocular exotropia D005099||primary exotropia D005099||secondary exotropia D005099||strabismus divergent D005094||exophthalmos D005094||proptoses D005094||proptosis C567646|613318||miyoshi muscular dystrophy 2 C567646|613318||miyoshi myopathy 2 C567646|613318||mmd2 D018497||ventricular dysfunction right D018497||dysfunction right ventricular D018497||dysfunctions right ventricular D018497||right ventricular dysfunction D018497||right ventricular dysfunctions D018497||ventricular dysfunctions right D018496||hyperoxia D018496||hyperoxias C562385|206200||iron refractory iron deficiency anemia C562385|206200||anemia hypochromic microcytic with defect in iron metabolism C562385|206200||irida C562385|206200||iron handling disorder hereditary C562385|206200||pseudo iron deficiency anemia D005177||factor xiii deficiency D005177||deficiencies factor xiii D005177||deficiency factor xiii D005177||factor xiii deficiencies 300419|C563150||mental retardation x linked with or without seizures arx related 300419|C563150||mental retardation x linked 29 300419|C563150||mental retardation x linked 32 300419|C563150||mental retardation x linked 33 300419|C563150||mental retardation x linked 38 300419|C563150||mental retardation x linked 43 300419|C563150||mental retardation x linked 54 300419|C563150||mental retardation x linked 76 300419|C563150||mental retardation x linked 87 300419|C563150||mrx29 300419|C563150||mrx32 300419|C563150||mrx33 300419|C563150||mrx38 300419|C563150||mrx43 300419|C563150||mrx54 300419|C563150||mrx76 300419|C563150||mrx87 300419|C563150||mrxarx D005185||fallopian tube neoplasms D005185||cancer fallopian tube D005185||cancer of the fallopian tube D005185||cancers fallopian tube D005185||fallopian tube cancer D005185||fallopian tube cancers D005185||fallopian tube neoplasm D005185||neoplasm fallopian tube D005185||neoplasms fallopian tube D005184||fallopian tube diseases D005184||disease fallopian tube D005184||diseases fallopian tube D005184||fallopian tube disease D005184||obstructions tubal D005184||obstruction tubal D005184||tubal obstruction D005184||tubal obstructions D005183||failure to thrive D005183||thrive failure to D018488||bone demineralization pathologic D018488||pathologic bone demineralization C563478|166990||osteochondrodysplasia rhizomelic with callosal agenesis thrombocytopenia hydrocephalus and hypertension D018487||ventricular dysfunction left D018487||dysfunction left ventricular D018487||dysfunctions left ventricular D018487||left ventricular dysfunction D018487||left ventricular dysfunctions D018487||ventricular dysfunctions left D018489||space motion sickness D018489||adaptation syndrome space D018489||motion sickness space D018489||space adaptation syndrome D018489||syndrome space adaptation D002908||chronic disease D002908||chronically ill D002908||chronic diseases D002908||chronic illness D002908||chronic illnesses D002908||disease chronic D002908||diseases chronic D002908||illness chronic D002908||illnesses chronic D002915||chylous ascites D002915||ascites chylous D002915||chyloperitoneum D002915||chylous peritonitis D002915||peritonitis chylous C563362|607801||muscular dystrophy limb girdle type 1c C563362|607801||lgmd1c C565218|609823||deafness autosomal recessive 28 C565218|609823||dfnb28 612075||mitochondrial dna depletion syndrome 8a encephalomyopathic type with renal tubulopathy 612075||mitochondrial dna depletion syndrome encephalomyopathic with renal tubulopathy autosomal recessive mitochondrial dna depletion syndrome 8b mngie type included 612075||mitochondrial neurogastrointestinal encephalopathy syndrome rrm2b related included 612075||mngie rrm2b related included 612075||mtdp8b included 612075||mtdps8a C565423|248190||hypomagnesemia 5 renal with ocular involvement C565423|248190||fhhnc with severe ocular involvement C565423|248190||homg5 C565423|248190||hypomagnesemia familial with hypercalciuria nephrocalcinosis and severe ocular involvement C565423|248190||hypomagnesemia renal with ocular involvement C565423|248190||macular coloboma bilateral with hypercalciuria 612073||mitochondrial dna depletion syndrome 5 encephalomyopathic with or without methylmalonic aciduria 612073||mitochondrial dna depletion syndrome encephalomyopathic form with or without methylmalonic aciduria autosomal recessive sucla2 related 612073||mtdps5 239510|C538385||hyperprolinemia type 2 239510|C538385||1 alpha pyrroline 5 carboxylate dehydrogenase deficiency 239510|C538385||1 pyrroline 5 carboxylate dehydrogenase deficiency 239510|C538385||hpii 239510|C538385||hyperprolinemia type ii 239510|C538385||type 2 hyperprolinemia D002916||chylothorax D054119||arachnodactyly D054119||arachnodactylies D017169||neoplasms post traumatic D017169||cancer post traumatic D017169||cancers post traumatic D017169||malignancies post traumatic D017169||malignancy post traumatic D017169||neoplasm post traumatic D017169||post traumatic cancer D017169||post traumatic cancers D017169||post traumatic malignancies D017169||post traumatic malignancy D017169||post traumatic neoplasm D017169||post traumatic neoplasms D020792||salivary calculi D020792||calculi salivary D020792||calculus salivary D020792||salivary calculus 300376|D020388||muscular dystrophy duchenne 300376|D020388|C537666||becker muscular dystrophy 300376|D020388||becker apos s muscular dystrophy 300376|D020388||childhood muscular dystrophy pseudohypertrophic 300376|D020388||childhood pseudohypertrophic muscular dystrophy 300376|D020388||dmd 300376|D020388||duchenne and becker muscular dystrophy 300376|D020388|D020388|C537666||duchenne becker muscular dystrophy 300376|D020388||duchenne muscular dystrophy 300376|D020388||duchenne type progressive muscular dystrophy 300376|D020388||muscular dystrophy becker 300376|D020388||muscular dystrophy becker apos s 300376|D020388||muscular dystrophy becker type 300376|D020388||muscular dystrophy childhood pseudohypertrophic 300376|D020388||muscular dystrophy duchenne and becker types 300376|D020388||muscular dystrophy duchenne becker 300376|D020388||muscular dystrophy pseudohypertrophic 300376|D020388||muscular dystrophy pseudohypertrophic childhood 300376|D020388||muscular dystrophy pseudohypertrophic progressive becker type 300376|D020388||progressive muscular dystrophy duchenne type 300376|D020388||pseudohypertrophic childhood muscular dystrophy 300376|D020388||pseudohypertrophic muscular dystrophy 300376|D020388||pseudohypertrophic muscular dystrophy childhood 613390||fanconi anemia complementation group o 613390||fanco 205400|D013631||tangier disease 205400|D013631||a alphalipoprotein neuropathies 205400|D013631||a alphalipoprotein neuropathy 205400|D013631||alpha high density lipoprotein deficiency disease 205400|D013631||analphalipoproteinemia 205400|D013631||analphalipoproteinemias 205400|D013631||cholesterol thesaurismoses 205400|D013631||cholesterol thesaurismosis 205400|D013631||hdldt1 205400|D013631||high density lipoprotein deficiency tangier type 205400|D013631||high density lipoprotein deficiency type 1 205400|D013631||high density lipoprotein deficiency type i 205400|D013631||neuropathies a alphalipoprotein 205400|D013631||neuropathy a alphalipoprotein 205400|D013631||neuropathy of tangier disease 205400|D013631||tangier disease neuropathy 205400|D013631||tangier hereditary neuropathy 205400|D013631||tgd 205400|D013631||thesaurismoses cholesterol 205400|D013631||thesaurismosis cholesterol 613391||deafness autosomal recessive 84a 613391||deafness autosomal recessive 84 613391||deafness autosomal recessive 84a with vestibular dysfunction 613391||dfnb84 613391||dfnb84a 210900|D001816||bloom syndrome 210900|D001816||blm 210900|D001816||bloom apos s syndrome 210900|D001816||bloom torre machacek syndrome 210900|D001816||bs 210900|D001816||congenital telangiectatic erythema 210900|D001816||syndrome bloom 210900|D001816||syndrome bloom torre machacek 613392||deafness autosomal recessive 85 613392||dfnb85 612522|C567284||diabetes mellitus insulin dependent 22 612522|C567284||iddm22 613398||warsaw breakage syndrome 613398||wabs C565335|605373||paragangliomas 3 C565335|605373||glomus tumors familial 3 C565335|605373||pgl3 613399||breast ovarian cancer familial susceptibility to 3 613399||breast cancer familial susceptibility to 3 included 613399||brovca3 613399||ovarian cancer familial susceptibility to 3 included C536871|270800||spastic paraplegia type 5a recessive C536871|270800||autosomal recessive spastic paraplegia C536871|270800|C564811||spastic paraplegia 5a autosomal recessive C536871|270800||spg5a D005156||facial neuralgia D005156||craniofacial pain syndrome D005156||craniofacial pain syndromes D005156||facial neuralgias D005156||facial pain syndrome D005156||facial pain syndromes D005156||myofacial pain syndrome D005156||myofacial pain syndromes D005156||neuralgia facial D005156||neuralgias facial D005156||neuralgia sphenopalatine D005156||neuralgias sphenopalatine D005156||pain syndrome craniofacial D005156||pain syndrome facial D005156||pain syndrome myofacial D005156||pain syndromes craniofacial D005156||pain syndromes facial D005156||pain syndromes myofacial D005156||sphenopalatine neuralgia D005156||sphenopalatine neuralgias D005156||syndrome craniofacial pain D005156||syndrome facial pain D005156||syndrome myofacial pain D005156||syndromes craniofacial pain D005156||syndromes facial pain D005156||syndromes myofacial pain D005155||facial nerve diseases D005155||acquired facial neuropathies D005155||acquired facial neuropathy D005155||cranial nerve vii diseases D005155||cranial nerve vii disorders D005155||disease facial nerve D005155||diseases facial nerve D005155||disorder facial nerve D005155||disorders facial nerve D005155||facial myokymia D005155||facial myokymias D005155||facial nerve disease D005155||facial nerve disorder D005155||facial nerve disorders D005155||facial nerve motor disorders D005155||facial nerve sensory disorders D005155||facial neuritides D005155||facial neuritis D005155||facial neuropathies D005155||facial neuropathies acquired D005155||facial neuropathies familial D005155||facial neuropathy D005155||facial neuropathy acquired D005155||facial neuropathy familial D005155||familial facial neuropathies D005155||familial facial neuropathy D005155||ganglionitides geniculate D005155||ganglionitis geniculate D005155||geniculate ganglionitides D005155||geniculate ganglionitis D005155||motor disorders facial nerve D005155||myokymia facial D005155||myokymias facial D005155||neuritides facial D005155||neuritis facial D005155||neuropathies facial D005155||neuropathies familial facial D005155||neuropathy facial D005155||neuropathy familial facial D005155||sensory disorders facial nerve D005155||seventh cranial nerve diseases D006486||hemosiderosis D006486||hemosideroses 601764|D020936||epilepsy benign neonatal 601764|D020936||benign familial infantile convulsions 601764|D020936||benign familial infantile convulsions syndrome 601764|D020936||benign familial neonatal convulsions 601764|D020936||benign familial neonatal epilepsy 601764|D020936||benign familial neonatal infantile seizures 601764|D020936||benign infantile familial convulsions 601764|D020936||benign neonatal convulsion 601764|D020936||benign neonatal convulsions 601764|D020936||benign neonatal epilepsies 601764|D020936||benign neonatal epilepsy 601764|D020936||benign neonatal epilepsy nonfamilial 601764|D020936||benign neonatal infantile epilepsies 601764|D020936||benign neonatal infantile epilepsy 601764|D020936||benign neonatal non familial convulsions 601764|D020936||benign neonatal nonfamilial epilepsy 601764|D020936||benign non familial neonatal convulsions 601764|D020936||bfic1 601764|D020936||bfis1 601764|D020936||convulsion benign neonatal 601764|D020936||convulsions benign familial infantile 1 601764|D020936||convulsions benign familial neonatal 601764|D020936||convulsions benign neonatal 601764|D020936||convulsions benign neonatal familial 601764|D020936||convulsions benign neonatal non familial 601764|D020936||epilepsies benign neonatal 601764|D020936||epilepsies benign neonatal infantile 601764|D020936||epilepsy benign neonatal familial 601764|D020936||epilepsy benign neonatal infantile 601764|D020936||epilepsy benign neonatal nonfamilial 601764|D020936||epilepsy benign neonatal non familial 601764|D020936||familial benign neonatal convulsions 601764|D020936||familial benign neonatal epilepsy 601764|D020936||neonatal convulsion benign 601764|D020936||neonatal convulsions benign 601764|D020936||neonatal epilepsies benign 601764|D020936||neonatal epilepsy benign 601764|D020936||neonatal infantile epilepsies benign 601764|D020936||neonatal infantile epilepsy benign 601764|D020936||non familial benign neonatal convulsions 601764|D020936||non familial benign neonatal epilepsy 601764|D020936||seizures benign familial infantile 1 D020795||photophobia D020795||light sensitivities D020795||light sensitivity D020795||photophobias D020795||sensitivities light D020795||sensitivity light D005158||facial paralysis D005158||central facial paralyses D005158||central facial paralysis D005158||facial palsies D005158||facial palsy D005158||facial palsy lower motor neuron D005158||facial palsy upper motor neuron D005158||facial paralyses central D005158||facial paralyses peripheral D005158||facial paralysis central D005158||facial paralysis peripheral D005158||facial paresis D005158||hemifacial paralysis D005158||lower motor neuron facial palsy D005158||palsies facial D005158||palsy facial D005158||paralyses central facial D005158||paralyses facial D005158||paralyses hemifacial D005158||paralysis central facial D005158||paralysis facial D005158||paralysis hemifacial D005158||paralysis peripheral facial D005158||pareses facial D005158||paresis facial D005158||peripheral facial paralysis D005158||upper motor neuron facial palsy D005157||facial pain D005157||craniofacial pain D005157||face pain D005157||facial pain neuralgic D005157||myofacial pain D005157||neuralgic facial pain D005157||orofacial pain D005157||pain craniofacial D005157||pain face D005157||pain facial D005157||pain myofacial D005157||pain neuralgic facial D005157||pain orofacial D005162||factitious disorders D005162||disorders factitious D005162||ganser syndrome D005162||pseudodementia D005162||pseudopsychosis D005162||syndrome ganser D056784||leukoencephalopathies D056784||cach syndrome D056784||cach syndromes D056784||cach vwm syndrome D056784||cach vwm syndromes D056784||centralis diffusa myelinosis D056784||centralis diffusas myelinosis D056784||childhood ataxia with central nervous system hypomyelination D056784|C565836|603896||childhood ataxia with central nervous system hypomyelinization D056784||childhood ataxia with diffuse central nervous system hypomyelination D056784||cree leukoencephalopathies D056784||cree leukoencephalopathy D056784||diffusa myelinosis centralis D056784||diffusas myelinosis centralis D056784||diseases white matter D056784||disease white matter D056784||leukoencephalopathies cree D056784||leukoencephalopathy D056784||leukoencephalopathy cree D056784|C565836|603896||leukoencephalopathy with vanishing white matter D056784||myelinosis centralis diffusa D056784||myelinosis centralis diffusas D056784||syndrome cach D056784||syndrome cach vwm D056784||syndromes cach D056784||syndromes cach vwm D056784|C565836|603896||vanishing white matter leukodystrophy D056784||white matter disease D056784||white matter diseases D006491||hemothorax C565216|610234||synpolydactyly 3 C565216|610234||spd3 C536275|213600||idiopathic basal ganglia calcification 1 C536275|213600||adult onset idiopathic nonarteriosclerotic cerebral calcification C536275|213600||basal ganglia calcification idiopathic 1 C536275|213600||basal ganglia calcification idiopathic 3 formerly C536275|213600||bilateral striopallidodentate calcinosis C536275|213600||bspdc C536275|213600||cerebral calcification nonarteriosclerotic idiopathic adult onset C536275|213600||cerebrovascular ferrocalcinosis C536275|213600||fahr disease familial formerly C536275|213600||familial idiopathic basal ganglia calcification C536275|213600||ferrocalcinosis cerebrovascular C536275|213600||fibgc C536275|213600||ibgc1 C536275|213600||ibgc3 formerly C536275|213600||striopallidodentate calcinosis C536275|213600||striopallidodentate calcinosis autosomal dominant adult onset C536275|213600||striopallidodentate calcinosis bilateral 101400|101200|D000168||saethre chotzen syndrome 101400||scs acrocephalosyndactyly type iii 101400|101200|D000168||acs3 101400|101200|D000168||acs iii 101400|101200|D000168||chotzen syndrome 101400|101200|D000168||acrocephaly skull asymmetry and mild syndactyly saethre chotzen syndrome with eyelid anomalies included 101400||blepharophimosis epicanthus inversus and ptosis 3 formerly included 101400||bpes3 formerly included C565759|604571||bare lymphocyte syndrome type i C565759|604571||bls type i C565759|604571||hla class i deficiency D018467||positive pressure respiration intrinsic D018467||autopeep D018467||auto peep D018467||intrinsic peep D018467||intrinsic positive pressure respiration D018467||nontherapeutic positive pressure respiration D018467||non therapeutic positive pressure respiration D018467||occult peep D018467||occult positive pressure respiration D018467||peep intrinsic D018467||peep occult D018467||positive pressure respiration nontherapeutic D018467||positive pressure respiration non therapeutic D018467||positive pressure respiration occult D018467||respiration intrinsic positive pressure D018467||respiration nontherapeutic positive pressure D018467||respiration non therapeutic positive pressure D018467||respiration occult positive pressure C562583|300323||gout hprt related C562583|300323||hprt1 deficiency partial C562583|300323||hprt deficiency partial C562583|300323||hypoxanthine guanine phosphoribosyltransferase 1 deficiency partial C562583|300323||kelley seegmiller syndrome 613382||brachydactyly type e2 613382||bde2 147050|C564133||ige responsiveness atopic 147050|C564133||atopic hypersensitivity included 147050|C564133||atopy susceptibility to included 147050|C564133||igel 147050|C564133||ige level of 147050|C564133||iger 147050|C564133||ige response underlying allergic asthma and rhinitis 147050|C564133||ige response underlying allergic asthma and rhinitis ige elevated level of included 147050|C564133||immunoglobulin e basic level of in serum 613385||autoimmune disease syndromic multisystem D020787||central nervous system venous angioma D020787||angioma cerebral venous D020787||angioma intracranial venous D020787||angiomas cerebral venous D020787||angiomas intracranial venous D020787||angioma venous central nervous system D020787||cerebral venous angioma D020787||cerebral venous angiomas D020787||intracranial venous angioma D020787||intracranial venous angiomas D020787||venous angioma central nervous system D020787||venous angioma cerebral D020787||venous angioma intracranial D020787||venous angiomas cerebral D020787||venous angiomas intracranial D020785||central nervous system vascular malformations D020785||arteriovenous fistula dural D020785||arteriovenous fistulas dural D020785||brain capillary telangiectasia D020785||brain capillary telangiectasias D020785||brain vascular malformation D020785||brain vascular malformations D020785||capillary telangiectasia brain D020785||capillary telangiectasia pontine D020785||capillary telangiectasias brain D020785||capillary telangiectasias pontine D020785||central nervous system congenital vascular malformations D020785||central nervous system vascular anomalies D020785||cerebral embryonic artery persistent D020785||congenital vascular malformations central nevous system D020785||dural arteriovenous fistula D020785||dural arteriovenous fistulas D020785||embryonic artery persistent cerebral D020785||malformation brain vascular D020785||malformations brain vascular D020785||persistent cerebral embryonic artery D020785||pontine capillary telangiectasia D020785||pontine capillary telangiectasias D020785||telangiectasia brain capillary D020785||telangiectasia pontine capillary D020785||telangiectasias brain capillary D020785||telangiectasias pontine capillary D020785||vascular anomalies central nervous system D020785||vascular malformation brain D020785||vascular malformations brain D020785||vascular malformations central nervous system D020785||vascular malformations congenital nervous system 604213|C535459||chudley mccullough syndrome 604213|C535459||cmcs 604213|C535459||deafness autosomal recessive 82 604213|C535459||deafness bilateral sensorineural and hydrocephalus due to foramen of monro obstruction 604213|C535459||deafness sensorineural with partial agenesis of the corpus callosum and arachnoid cysts 604213|C535459||dfnb82 C566555|602398||desmosterolosis D054138||sinus arrest cardiac D054138||cardiac sinus arrest D054138||cardiac sinus arrests D054138||cardiac sinus pause D054138||cardiac sinus pauses D054138||sinus arrests cardiac D054138||sinus pause cardiac D054138||sinus pauses cardiac C566766|613695||long qt syndrome 5 C566766|613695|C563614|613688||long qt syndrome 2 5 digenic included lqt2 5 digenic included C566766|613695||long qt syndrome 5 acquired susceptibility to included C566766|613695||lqt5 D018476||hypokinesia D018476||antiorthostatic hypokinesia D018476||antiorthostatic hypokinesias D018476||bradykinesia D018476||bradykinesias D018476||hypodynamia D018476||hypokinesia antiorthostatic D018476||hypokinesias antiorthostatic C563210|613161||beta ureidopropionase deficiency 612525|C567283||pyloric stenosis infantile hypertrophic 5 612525|C567283||ihps5 D054139||tachycardia reciprocating D054139||reciprocal tachycardia D054139||reciprocal tachycardias D054139||reciprocating tachycardia D054139||reciprocating tachycardias D054139||tachycardia reciprocal D054139||tachycardias reciprocal D054139||tachycardias reciprocating D018450||disease progression D018450||disease exacerbation D018450||disease progressions D018450||progression disease D018450||progressions disease D017121||porphyria hepatoerythropoietic D017121||erythrohepatic porphyria D017121||erythrohepatic porphyrias D017121||hepatoerythropoietic porphyria D017121||hepatoerythropoietic porphyrias D017121||porphyria erythrohepatic D017121||porphyrias erythrohepatic D017121||porphyrias hepatoerythropoietic 613370||maturity onset diabetes of the young type 10 613370||mody10 D020779||sinus pericranii 613375||maturity onset diabetes of the young type 11 613375||mody11 D006468||hemopneumothorax 613376||neuronopathy distal hereditary motor type iic 613376||dhmn2c 613376||hmn2c 613376||hmn iic 613376||neuropathy distal hereditary motor type iic D006469||hemoptysis D006469||hemoptyses D005134||eye neoplasms D005134||cancer eye D005134||cancer of eye D005134||cancer of the eye D005134||cancers eye D005134||eye cancer D005134||eye cancers D005134||eye neoplasm D005134||neoplasm eye D005134||neoplasms eye D020773||headache disorders D020773||cephalgia syndrome D020773||cephalgia syndromes D020773||chronic daily headache D020773||chronic daily headaches D020773||chronic headache D020773||chronic headaches D020773||daily headache chronic D020773||daily headaches chronic D020773||headache chronic D020773||headache chronic daily D020773||headache disorder D020773||headache intractable D020773||headaches chronic D020773||headaches chronic daily D020773||headaches intractable D020773||headache syndrome D020773||headache syndromes D020773||intractable headache D020773||intractable headaches D020773||syndrome headache D006465||hemoperitoneum D006465||hemoperitoneums D054141||ventricular flutter D054141||ventricular flutters D006473||postpartum hemorrhage D006473||delayed postpartum hemorrhage D006473||hemorrhage delayed postpartum D006473||hemorrhage immediate postpartum D006473||hemorrhage postpartum D006473||immediate postpartum hemorrhage D006473||postpartum hemorrhage delayed D006473||postpartum hemorrhage immediate D005141||eyelid diseases D005141||disease eyelid D005141||diseases eyelid D005141||eyelid disease D006474||hemorrhagic disorders D006474||diatheses hemorrhagic D006474||diathesis hemorrhagic D006474||disorder hemorrhagic D006474||disorders hemorrhagic D006474||hemorrhagic diatheses D006474||hemorrhagic diathesis D006474||hemorrhagic disorder D006471||gastrointestinal hemorrhage D006471||gastrointestinal hemorrhages D006471||hematochezia D006471||hematochezias D006471||hemorrhage gastrointestinal D006472||oral hemorrhage D006472||hemorrhage oral D006472||oral hemorrhages D005142||eyelid neoplasms D005142||eyelid neoplasm D005142||neoplasm eyelid D005142||neoplasms eyelid D054144||heart failure diastolic D054144||diastolic heart failure D054144||diastolic heart failures D054144||heart failures diastolic D006470||hemorrhage D006470||bleeding D006470||hemorrhages D054143||heart failure systolic D054143||heart failures systolic D054143||systolic heart failure D054143||systolic heart failures D017116||low back pain D017116||ache low back D017116||aches low back D017116||backache low D017116||back ache low D017116||backaches low D017116||back aches low D017116||back pain low D017116||back pain lower D017116||back pains low D017116||back pains lower D017116||low backache D017116||low back ache D017116||low backaches D017116||low back aches D017116||low back pain mechanical D017116||low back pain posterior compartment D017116||low back pain postural D017116||low back pain recurrent D017116||low back pains D017116||lower back pain D017116||lower back pains D017116||lumbago D017116||mechanical low back pain D017116||pain low back D017116||pain lower back D017116||pains low back D017116||pains lower back D017116||postural low back pain D017116||recurrent low back pain D017114||liver failure acute D017114||acute hepatic failure D017114||acute liver failure D017114||failure acute hepatic D017114||failure acute liver D017114||fulminant hepatic failure D017114||fulminant hepatic failures D017114||fulminant liver failure D017114||fulminant liver failures D017114||fulminating hepatic failure D017114||fulminating hepatic failures D017114||fulminating liver failure D017114||fulminating liver failures D017114||hepatic failure acute D017114||hepatic failure fulminant D017114||hepatic failure fulminating D017114||hepatic failures fulminant D017114||hepatic failures fulminating D017114||liver failure fulminant D017114||liver failure fulminating D017114||liver failures fulminant D017114||liver failures fulminating D020760||spinal cord ischemia D020760||cord ischemia spinal D020760||cord ischemias spinal D020760||experimental spinal cord ischemia D020760||ischemia spinal cord D020760||ischemias spinal cord D020760||ischemic myelopathies D020760||ischemic myelopathy D020760||myelopathies ischemic D020760||myelopathy ischemic D020760||spinal cord ischemia experimental D020760||spinal cord ischemias D018461||soft tissue infections D018461||infection soft tissue D018461||infections soft tissue D018461||soft tissue infection C565278|605850||dimethylglycine dehydrogenase deficiency C565278|605850||dmgdhd C565278|605850||dmgdh deficiency D018460||fractures comminuted D018460||comminuted fracture D018460||comminuted fractures D018460||fracture comminuted D020767||intracranial thrombosis D020767||brain thromboses D020767||brain thrombosis D020767||brain thrombus D020767||cerebral thromboses D020767||cerebral thrombosis D020767||cerebral thrombus D020767||intracranial thromboses D020767||intracranial thrombus D020767||thromboses brain D020767||thromboses cerebral D020767||thromboses intracranial D020767||thrombosis brain D020767||thrombosis cerebral D020767||thrombosis intracranial D020767||thrombus brain D020767||thrombus cerebral D020767||thrombus intracranial D005148||facial dermatoses D005148||dermatoses facial D005148||dermatosis facial D005148||elastoidoses nodular D005148||elastoidosis nodular D005148||elastoses nodular D005148||elastosis nodular D005148||facial dermatosis D005148||favre racouchot syndrome D005148||nodular elastoidoses D005148||nodular elastoidosis D005148||nodular elastoses D005148||nodular elastosis D005148||syndrome favre racouchot 613364||spastic paraplegia 41 autosomal dominant 613364||spg41 D006479||hemorrhagic fever crimean D006479||congo virus infection D006479||congo virus infections D006479||crimean hemorrhagic fever D006479||crimean hemorrhagic fevers D006479||fever crimean hemorrhagic D006479||fevers crimean hemorrhagic D006479||hemorrhagic fevers crimean D006479||infection congo virus D006479||infections congo virus D020766||intracranial embolism D020766||brain emboli D020766||brain embolism D020766||brain embolus D020766||cerebral emboli D020766||cerebral embolism D020766||cerebral embolus D020766||emboli brain D020766||emboli cerebral D020766||embolism brain D020766||embolism cerebral D020766||embolism intracranial D020766||embolus brain D020766||embolus cerebral D020765||intracranial arterial diseases D020765||arterial brain disease D020765||arterial brain diseases D020765||arterial brain disorder D020765||arterial brain disorders D020765||arterial disease brain D020765||arterial disease intracranial D020765||arterial diseases brain D020765||arterial diseases intracranial D020765||arterial disorder intracranial D020765||arterial disorders intracranial D020765||brain arterial disease D020765||brain arterial diseases D020765||brain diseases arterial D020765||brain disorder arterial D020765||brain disorders arterial D020765||intracranial arterial disease D020765||intracranial arterial disorder D020765||intracranial arterial disorders C565799|604292||ectrodactyly ectodermal dysplasia and cleft lip palate syndrome 3 C565799|604292||eec3 C565799|604292||eec syndrome 3 C565054|131440||myeloproliferative disorder chronic with eosinophilia C565054|131440||emp C565054|131440||eosinophils malignant proliferation of C565054|131440||mpe C567734|613120||brugada syndrome 7 C567734|613120||brgda7 D003616|220200||dandy walker syndrome D003616|220200||dandy walker complex D003616|220200|C538507||dandy walker cyst D003616|220200||dandy walker deformity D003616|220200||dandy walker malformation D003616|220200||dandy walker malformation included D003616|220200||dandy walker syndrome familial D003616|220200||dwm included D003616|220200||dws D003616|220200||familial dandy walker syndrome D003616|220200||hydrocephalus internal dandy walker type D003616|220200||hydrocephalus noncommunicating dandy walker type D003616|220200||luschka magendie foramina atresia D003616|220200||malformation dandy walker D003616|220200||syndrome dandy walker D003616|220200||syndrome familial dandy walker D006478||hemorrhagic fever american D006478||american hemorrhagic fever D006478||argentinian hemorrhagic fever D006478||bolivian hemorrhagic fever D006478||fever american hemorrhagic D006478||fever argentinian hemorrhagic D006478||fever bolivian hemorrhagic D006478||hemorrhagic fever argentinian D006478||hemorrhagic fever bolivian C567931|611945||spastic paraplegia 37 autosomal dominant C567931|611945||spg37 D020763||pathological conditions anatomical D020763||anatomical pathological condition D020763||anatomical pathological conditions D020763||condition anatomical pathological D020763||conditions anatomical pathological D020763||pathological condition anatomical D006475||vitamin k deficiency bleeding D006475||hemorrhagic disease of newborn D006475||newborn hemorrhagic disease D006475||newborn hemorrhagic diseases D020762||infarction posterior cerebral artery D020762||embolic infarction posterior cerebral artery D020762||infarction pca D020762||pca infarction D020762||posterior cerebral artery embolic infarction D020762||posterior cerebral artery infarction D020762||posterior cerebral artery stroke D020762||posterior cerebral artery syndrome D020762||posterior cerebral artery thrombotic infarction D020762||stroke posterior cerebral artery D020762||thrombotic infarction posterior cerebral artery D005146||facial asymmetry D005146||asymmetries facial D005146||asymmetry facial D005146||facial asymmetries D006484||hemorrhoids D006484||hemorrhoid D005151||facial injuries D005151||facial injury D005151||injuries facial D005151||injury facial D006482||hemorrhagic fevers viral D006482||fevers viral hemorrhagic D006482||fever viral hemorrhagic D006482||hemorrhagic fever viral D006482||viral hemorrhagic fever D006482||viral hemorrhagic fevers D006483||hemorrhagic septicemia D006483||bacteremia haemorrhagic D006483||bacteremia hemorrhagic D006483||haemorrhagic bacteremia D006483||haemorrhagic septicaemia D006483||haemorrhagic septicemia D006483||hemorrhagic bacteremia D006483||hemorrhagic septicaemia D006483||septicaemia haemorrhagic D006483||septicaemia hemorrhagic D006483||septicemia haemorrhagic D006483||septicemia hemorrhagic D005153||facial neoplasms D005153||facial neoplasm D005153||neoplasm facial D005153||neoplasms facial C566296|613694||cardiomyopathy dilated 1u C566296|613694||cmd1u D006480||hemorrhagic fever with renal syndrome D006480||epidemic hemorrhagic fever D006480||epidemic hemorrhagic fevers D006480||hemorrhagic fever epidemic D006480||hemorrhagic fever korean D006480||hemorrhagic fevers epidemic D006480||hemorrhagic nephroso nephritides D006480||hemorrhagic nephroso nephritis D006480||hfrs D006480||korean hemorrhagic fever D006480||nephropathia epidemica D006480||nephroso nephritides hemorrhagic D006480||nephroso nephritis hemorrhagic D006481||hemorrhagic fever omsk D006481||fever omsk hemorrhagic D006481||omsk hemorrhagic fever D005150||facial hemiatrophy D005150||atrophies hemifacial D005150||atrophies progressive hemifacial D005150||atrophy hemifacial D005150||atrophy progressive hemifacial D005150||atrophy romberg hemi facial D005150||disease parry romberg D005150||disease romberg D005150||disease romberg apos s D005150||facial hemiatrophies D005150||facial hemiatrophies progressive D005150||facial hemiatrophy of romberg D005150||facial hemiatrophy progressive D005150||hemiatrophies facial D005150||hemiatrophies progressive facial D005150||hemiatrophy facial D005150||hemiatrophy progressive facial D005150||hemifacial atrophies D005150||hemifacial atrophy D005150||hemifacial atrophy progressive D005150||hemi facial atrophy romberg D005150||parry romberg disease D005150||parry romberg syndrome D005150||progressive facial hemiatrophies D005150||progressive facial hemiatrophy D005150||progressive hemifacial atrophies D005150||progressive hemifacial atrophy D005150||romberg disease D005150||romberg facial hemiatrophy D005150||romberg hemi facial atrophy D005150||romberg apos s disease D005150||rombergs disease D005150||syndrome parry romberg D018459||lichen sclerosus et atrophicus D018459||lichen scleroses D018459||lichen sclerosis D018459||lichen sclerosis et atrophicus D018459||lichen sclerosus D018459||scleroses lichen D018459||sclerosis lichen D018459||sclerosus lichen D018458||persistent vegetative state D018458||minimally conscious state D018458||minimally conscious states D018458||permanent vegetative state D018458||permanent vegetative states D018458||persistent unawareness state D018458||persistent unawareness states D018458||persistent vegetative states D018458||postcomatose unawareness state D018458||post comatose unawareness state D018458||postcomatose unawareness states D018458||post comatose unawareness states D018458||post traumatic unawarenesses prolonged D018458||post traumatic unawareness prolonged D018458||posttraumatic unawareness state D018458||post traumatic unawareness state D018458||posttraumatic unawareness states D018458||post traumatic unawareness states D018458||post traumatic vegetative state D018458||post traumatic vegetative states D018458||prolonged post traumatic unawareness D018458||prolonged post traumatic unawarenesses D018458||pvs persistent vegetative state D018458||pvss persistent vegetative state D018458||state minimally conscious D018458||state permanent vegetative D018458||state persistent unawareness D018458||state persistent vegetative D018458||state postcomatose unawareness D018458||state post comatose unawareness D018458||state posttraumatic unawareness D018458||state post traumatic unawareness D018458||state post traumatic vegetative D018458||states minimally conscious D018458||states permanent vegetative D018458||states persistent unawareness D018458||states persistent vegetative D018458||states postcomatose unawareness D018458||states post comatose unawareness D018458||states posttraumatic unawareness D018458||states post traumatic unawareness D018458||states post traumatic vegetative D018458||states transient vegetative D018458||states vegetative D018458||state transient vegetative D018458||state vegetative D018458||transient vegetative state D018458||transient vegetative states D018458||unawarenesses prolonged post traumatic D018458||unawareness prolonged post traumatic D018458||unawareness state persistent D018458||unawareness state postcomatose D018458||unawareness state post comatose D018458||unawareness state posttraumatic D018458||unawareness state post traumatic D018458||unawareness states persistent D018458||unawareness states postcomatose D018458||unawareness states post comatose D018458||unawareness states posttraumatic D018458||unawareness states post traumatic D018458||vegetative state D018458||vegetative state permanent D018458||vegetative state persistent D018458||vegetative state post traumatic D018458||vegetative states D018458||vegetative states permanent D018458||vegetative states persistent D018458||vegetative states post traumatic D018458||vegetative states transient D018458||vegetative state transient C563307|601493||cardiomyopathy dilated 1c C563307|601493||cardiomyopathy dilated with left ventricular noncompaction included C563307|601493||cmd1c C563307|601493||left ventricular noncompaction 3 included C563307|601493||lvnc3 included D017129||anisakiasis D017129||anisakiases D018455||protein s deficiency D018455||deficiencies protein s D018455||deficiency protein s D018455||hereditary thrombophilia due to protein s deficiency D018455||protein s deficiencies D018457||placenta retained D018457||placentas retained D018457||retained placenta D018457||retained placentas C563585||metatarsus varus type i C563583||microcephaly with chorioretinopathy autosomal dominant C563589||mesomelic dwarfism of hypoplastic tibia and radius type D005119||extravasation of diagnostic and therapeutic materials D005119||contrast media extravasation D005119||extravasation of contrast media D005119||extravasation of diagnostic therapeutic materials C563587||metachromatic leukodystrophy adult onset with normal arylsulfatase a C563586||metaphyseal dysplasia with maxillary hypoplasia and brachydactyly 125420||dtdp2 D020757||amaurosis fugax D020757||blindness monocular transient D020757||blindness transient monocular D020757||monocular blindness transient D020757||transient monocular blindness C567482|300633||hypospadias 1 x linked C567482|300633||hysp1 613353||mononeuropathy of the median nerve mild 613353||carpal tunnel syndrome susceptibility to 613353||mnmn D005117||cardiac complexes premature D005117||beat premature D005117||beats premature D005117||cardiac complex premature D005117||complexes premature cardiac D005117||ectopic heartbeat D005117||ectopic heartbeats D005117||extrasystole D005117||heartbeat ectopic D005117||heartbeats ectopic D005117||premature beat D005117||premature beats D005117||premature cardiac complex D005117||premature cardiac complexes D005117||premature cardiac complices D007775||lactation disorders D007775||disorder lactation D007775||disorders lactation D007775||hypogalactia D007775||hypogalactias D007775||lactation disorder D006445||hemoglobin c disease D006445||c disease hemoglobin D006445||c diseases hemoglobin D006445||hemoglobin c diseases D020752||neurocutaneous syndromes D020752||neurocutaneous disorder D020752||neurocutaneous disorders D020752||neurocutaneous syndrome D020752||neuroectodermal dysplasia syndrome D020752||neuroectodermal dysplasia syndromes D020752||phacomatoses D020752||phacomatosis D020752||phakomatoses D020752||phakomatosis D020752||syndrome neurocutaneous D020752||syndrome neuroectodermal dysplasia D020752||syndromes neurocutaneous D020752||syndromes neuroectodermal dysplasia D020751||alcohol induced disorders D020751||alcohol induced disorder D055496||neurogenic bowel D055496||bowel neurogenic D055496||bowels neurogenic D055496||neurogenic bowels C535288|266280||rapadilino syndrome C535288|266280||radial and patellar aplasia C535288|266280||radial and patellar hypoplasia D054160||systolic murmurs D054160||ejection murmur D054160||ejection murmurs D054160||murmur ejection D054160||murmurs ejection D054160||murmurs systolic D054160||murmurs systolic regurgitant D054160||murmur systolic D054160||murmur systolic regurgitant D054160||regurgitant murmurs systolic D054160||regurgitant murmur systolic D054160||systolic murmur D054160||systolic regurgitant murmur D054160||systolic regurgitant murmurs D006450||hemoglobin sc disease D006450||disease hemoglobin sc D006450||disease sc D006450||diseases hemoglobin sc D006450||diseases sc D006450||hemoglobin sc diseases D006450||sc disease D006450||sc disease hemoglobin D006450||sc diseases D006450||sc diseases hemoglobin D006450||sickle cell hemoglobin c disease D020759||anterior spinal artery syndrome D020759||anterior spinal artery dissection D020759||dissection anterior spinal artery D020759||syndrome anterior spinal artery D020758||spinal cord vascular diseases D020758||hematomyelia D020758||hematomyelias D020758||posterior spinal artery syndrome D020758||vascular diseases spinal cord C566801|172870||pigmented paravenous chorioretinal atrophy C566801|172870||ppcra C563592||membranous cranial ossification delayed D055499||catheter related infections D055499||catheter associated infection D055499||catheter associated infections D055499||catheter related infection D055499||infection catheter associated D055499||infection catheter related D055499||infections catheter associated D055499||infections catheter related C563591||mental and growth retardation with amblyopia D018424||cholesteatoma middle ear D018424||aural cholesteatoma D018424||aural cholesteatomas D018424||cholesteatoma aural D018424||cholesteatomas aural D018424||cholesteatomas middle ear D018424||middle ear cholesteatoma D018424||middle ear cholesteatomas C563590||meralgia paraesthetica familial 600048||breast cancer 11 22 translocation associated 600048||brcata C567510|611868||prostate cancer hereditary 12 C567510|611868||hpc12 C563596||melanoma malignant familial intraocular C566929|611515||febrile convulsions familial 7 C566929|611515||feb7 C566929|611515||febrile seizures familial 7 D018442||lymphoma b cell marginal zone D018442||lymphoma malt D018442||lymphoma mucosa associated lymphoid tissue D018442||lymphoma of mucosa associated lymphoid tissue D018442||lymphomas malt D018442||malt lymphoma D018442||malt lymphomas D018442||marginal zone b cell lymphoma D018442||mucosa associated lymphoid tissue lymphoma D019773||epiretinal membrane D019773||epiretinal membranes D019773||membrane epiretinal D019773||membranes epiretinal D020513|170500||paralysis hyperkalemic periodic D020513|170500||adynamia episodica hereditaria D020513|170500||adynamia episodica hereditaria with or without myotonia D020513|170500||disease gamstorp D020513|170500||familial hyperkalemic periodic paralysis D020513|170500||gamstorp disease D020513|170500||gamstorp disease normokalemic periodic paralysis potassium sensitive included D020513|170500||gamstorp episodic adynamy D020513|170500||hyperkalemic periodic paralysis D020513|170500||hyperkalemic periodic paralysis familial D020513|170500||hyperkalemic periodic paralysis type 2 D020513|170500||hyperkaliemic periodic paralysis type 2 D020513|170500||hyperkpp D020513|170500||hyperpp D020513|170500||hypp D020513|170500||myotonic periodic paralysis D020513|170500||paralysis periodic hyperkalemic familial D020513|170500||primary hyperkalemic periodic paralysis C563594||melanosis universal C563593||melorheostosis with osteopoikilosis C537689|610688||joubert syndrome 6 C537689|610688||jbts6 C563599||maxillofacial dysostosis C563598||median ulnar nerve communications C563598||martin gruber median ulnar anastomosis 606069|C537249||hemochromatosis type 4 606069|C537249||hemochromatosis autosomal dominant 606069|C537249||hemochromatosis due to defect in ferroportin 606069|C537249||hfe4 613340||epilepsy hot water 2 613340||hwe2 D005126||eye burns D005126||burn eye D005126||burns eye D005126||eye burn D005129||eye foreign bodies D005129||eye foreign body D005129||foreign bodies eye D005129||foreign body eye D005128||eye diseases D005128||disease eye D005128||diseases eye D005128||eye disease D006456||hemoglobinuria D007787||lactose intolerance D007787||alactasia D007787||dairy product intolerance D007787||hypolactasia D007787||intolerance lactose D007787||lactose malabsorption D007787||malabsorption lactose D007787||milk sugar intolerance D006453||hemoglobinopathies D006453||hemoglobinopathy D017490|242300||ichthyosis lamellar D017490|242300||arci1 D017490|242300||baby syndrome collodion D017490|242300||baby syndrome harlequin D017490|242300||baby syndromes collodion D017490|242300||baby syndromes harlequin D017490|242300||collodion baby syndrome D017490|242300||collodion baby syndromes D017490|242300||collodion fetus D017490|242300||congenita ichthyosis D017490|242300||congenita i ichthyosis D017490|242300||congenita ii ichthyosis D017490|242300||congenita iis ichthyosis D017490|242300||congenita is ichthyosis D017490|242300||congenital ichthyosiform erythroderma nonbullous D017490|242300||congenital nonbullous ichthyosiform erythroderma D017490|242300||congenitas ichthyosis D017490|242300||desquamation of newborn D017490|242300||erythroderma ichthyosiforme nonbullous D017490|242300||erythroderma ichthyosiformes nonbullous D017490|242300||fetus collodion D017490|242300||fetus harlequin D017490|242300||harlequin baby syndrome D017490|242300||harlequin baby syndromes D017490|242300||harlequin fetus D017490|242300||harlequin ichthyoses D017490|242300||ichthyose lamellar D017490|242300||ichthyoses harlequin D017490|242300||ichthyoses lamellar D017490|242300||ichthyosiforme nonbullous erythroderma D017490|242300||ichthyosiform erythroderma nonbullous congenital D017490|242300||ichthyosiformes nonbullous erythroderma D017490|242300||ichthyosis congenita D017490|242300||ichthyosis congenita i D017490|242300||ichthyosis congenita ii D017490|242300||ichthyosis congenita iis D017490|242300||ichthyosis congenita is D017490|242300||ichthyosis congenital autosomal recessive 1 D017490|242300||ichthyosis congenital autosomal recessive 1 with bathing suit distribution D017490|242300||ichthyosis congenitas D017490|242300||ichthyosis harlequin D017490|242300||ichthyosis lamellar 1 D017490|242300||ichthyosis lamellar 1 formerly D017490|242300||icr2 D017490|242300||i ichthyosis congenita D017490|242300||is ichthyosis congenita D017490|242300||lamellar exfoliation of newborn D017490|242300||lamellar ichthyose D017490|242300||lamellar ichthyoses D017490|242300||lamellar ichthyosis D017490|242300||lamellar ichthyosis type 1 D017490|242300||li1 formerly D017490|242300||newborn desquamation D017490|242300||newborn desquamations D017490|242300||newborn lamellar exfoliation D017490|242300||newborn lamellar exfoliations D017490|242300||nonbullous congenital ichthyosiform erythroderma D017490|242300||nonbullous congenital lamellar ichthyosis D017490|242300||nonbullous erythroderma ichthyosiforme D017490|242300||nonbullous erythroderma ichthyosiformes D017490|242300||shcb D017490|242300||syndrome collodion baby D017490|242300||syndrome harlequin baby D017490|242300||syndromes collodion baby D017490|242300||syndromes harlequin baby D005124||eye abnormalities D005124||abnormalities eye D005124||abnormality eye D005124||eye abnormality D005130||eye hemorrhage D005130||eye hemorrhages D005130||hemophthalmos D005130||hemorrhage eye D006463||hemolytic uremic syndrome D006463||gasser apos s syndrome D006463||gassers syndrome D006463||gasser syndrome D006463||syndrome gasser D006463||syndrome hemolytic uremic D007794||lameness animal D007794||animal gait disorder D007794||animal gait disorders D007794||animal lameness D007794||animal lamenesses D007794||disorder animal gait D007794||disorders animal gait D007794||gait disorder animal D007794||gait disorders animal D007794||lamenesses animal 613339||epilepsy hot water 1 613339||bathing epilepsy 613339||hwe1 613339||water immersion epilepsy D005132||eye manifestations D005132||eye manifestation D005132||manifestation eye D005132||manifestations eye D006461||hemolysis D005131||eye injuries D005131||eye injury D005131||injuries eye D005131||injury eye D017109||akathisia drug induced D017109||acathisia drug induced D017109||akathisia tardive D017109||drug induced acathisia D017109||drug induced akathisia D017109||pseudoakathisia D017109||tardive akathisia C567085|611788||aortic aneurysm familial thoracic 6 C567085|611788||aat6 C567085|611788||familial thoracic aortic aneurysm with livedo reticularis and iris flocculi D018437||brown sequard syndrome D018437||brown sequard disease D018437||brown sequard paralysis D018437||brown sequard apos s disease D018437||brown sequards disease D018437||brown sequard apos s paralysis D018437||brown sequards paralysis D018437||brown sequard apos s syndrome D018437||brown sequards syndrome D018437||hemicord syndrome D018437||hemicord syndromes D018437||hemiparaplegic syndrome D018437||hemiparaplegic syndromes D018437||hemispinal cord syndrome D018437||hemispinal cord syndromes D018437||paralysis brown sequard apos s D018437||spastic spinal monoplegia syndrome D018437||syndrome brown sequard D018437||syndrome brown sequard apos s D018437||syndrome hemicord D018437||syndrome hemiparaplegic D018437||syndrome hemispinal cord D018437||syndromes hemicord D018437||syndromes hemiparaplegic D018437||syndromes hemispinal cord D019767||maxillofacial abnormalities D019767||abnormalities maxillofacial D019767||abnormality maxillofacial D019767||maxillofacial abnormality D018438||blue toe syndrome D018438||syndrome blue toe C563563||muscle cramps familial C564894||peripheral neuropathy ataxia focal necrotizing encephalopathy and spongy degeneration of brain C537275||cirrhosis familial with deposition of abnormal glycogen C565298|605749||cataract autosomal recessive early onset pulverulent C565298|605749||caar C565298|605749||cataract 26 multiple types C565298|605749||ctrct26 C564893||presentey anomaly C564893||eosinophil peroxidase deficiency partial C564893||peroxidase and phospholipid deficiency in eosinophils C563566||multiple exostoses with spastic tetraparesis C563565||cerebellar granule cell hypertrophy and megalencephaly C567906|309530||mental retardation x linked 1 C567906|309530||mrx1 C567906|309530||mrx18 included C567906|309530||mrx mental retardation x linked 18 included D007759||labyrinth diseases D007759||ear disease inner D007759||ear diseases inner D007759||inner ear disease D007759||inner ear diseases D007759||labyrinth disease D006429||hemiplegia D006429||crossed hemiplegia D006429||crossed hemiplegias D006429||flaccid hemiplegia D006429||flaccid hemiplegias D006429||hemiplegia crossed D006429||hemiplegia flaccid D006429||hemiplegia infantile D006429||hemiplegia post ictal D006429||hemiplegias D006429||hemiplegias crossed D006429||hemiplegias flaccid D006429||hemiplegias infantile D006429||hemiplegia spastic D006429||hemiplegias post ictal D006429||hemiplegias spastic D006429||hemiplegias transient D006429||hemiplegia transient D006429||infantile hemiplegia D006429||infantile hemiplegias D006429||monoplegia D006429||monoplegias D006429||post ictal hemiplegia D006429||post ictal hemiplegias D006429||spastic hemiplegia D006429||spastic hemiplegias D006429||transient hemiplegia D006429||transient hemiplegias C563564||cerebelloparenchymal disorder vi C564895||pericardial effusion chronic C564895||cholesterol pericarditis D007757||laboratory infection D007757||infection laboratory D007757||infections laboratory D007757||laboratory infections C538150|212780||syndactyly cenani lenz type C538150|212780||cenani lenz syndactyly C538150|212780||cenani lenz syndactyly syndrome C538150|212780||cenani lenz type syndactyly C538150|212780||cenani syndactylism C538150|212780||clss C538150|212780||syndactyly type 7 C538150|212780||syndactyly type vii C563569||coronary artery disease development of in hiv D006425||hemic and lymphatic diseases C564899||pelger huet like anomaly and episodic fever with abdominal pain C537271||fowler christmas chapple syndrome C537271||voiding dysfunction and polycystic ovaries D006423||hemianopsia D006423||altidudinal hemianopia D006423||altidudinal hemianopias D006423||altitudinal hemianopsia D006423||altitudinal hemianopsias D006423||binasal hemianopia D006423||binasal hemianopias D006423||binasal hemianopsia D006423||binasal hemianopsias D006423||bitemporal hemianopia D006423||bitemporal hemianopias D006423||bitemporal hemianopsia D006423||bitemporal hemianopsias D006423||hemianopia D006423||hemianopia altidudinal D006423||hemianopia binasal D006423||hemianopia bitemporal D006423||hemianopia homonymous D006423||hemianopias D006423||hemianopias altidudinal D006423||hemianopias binasal D006423||hemianopias bitemporal D006423||hemianopias homonymous D006423||hemianopsia altitudinal D006423||hemianopsia binasal D006423||hemianopsia bitemporal D006423||hemianopsia homonymous D006423||hemianopsias D006423||hemianopsias altitudinal D006423||hemianopsias binasal D006423||hemianopsias bitemporal D006423||hemianopsias homonymous D006423||homonymous hemianopia D006423||homonymous hemianopias D006423||homonymous hemianopsia D006423||homonymous hemianopsias D006423||quadrantanopia D006423||quadrantanopias D006423||quadrantanopsia D006423||quadrantanopsias C537272||franceschini vardeu guala syndrome D007752||obstetric labor premature D007752||labor premature D007752||labor premature obstetric D007752||labor preterm D007752||premature labor D007752||premature obstetric labor D007752||preterm labor C537270||fountain syndrome C537270||mental retardation deafnes skeletal abnormalities coarse face with full lips C537270||mental retardation sensorineural deafness skeletal abnormalities and coarse face with full lips 606240||thyroid carcinoma nonmedullary susceptibility to 1 606240||nmtc1 251450|C535943||desbuquois syndrome 251450|C535943||dbqd1 251450|C535943||desbuquois dysplasia 251450|C535943||desbuquois dysplasia 1 251450|C535943||micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification 251450|C535943||micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification desbuquois dysplasia kim variant included D020739||brain diseases metabolic inborn D020739||brain diseases metabolic familial D020739||brain diseases metabolic inherited D020739||brain syndrome metabolic inborn D020739||central nervous system inborn metabolic diseases D020739||central nervous system inborn metabolic disorders D020739||cns metabolic disorders inborn D020739||encephalopathies metabolic inborn D020739||familial metabolic brain diseases D020739||familial metabolic disorders brain D020739||inborn errors of metabolism brain D020739||inborn metabolic brain diseases D020739||inborn metabolic brain disorders D020739||inborn metabolic disorders brain D020739||inherited metabolic brain diseases D020739||inherited metabolic disorders brain D020739||metabolic brain diseases familial D020739||metabolic brain diseases inborn D020739||metabolic brain diseases inherited D020739||metabolic brain syndrome inborn D020739||metabolic diseases inborn brain D020739||metabolic diseases inborn central nervous system D020739||metabolic disorders brain inherited D020739||metabolic disorders cns inborn D020739||metabolic disorders familial brain D018409||foot injuries D018409||foot injury D018409||injuries foot D018409||injury foot C566343|603689||hereditary myopathy with early respiratory failure C566343|603689||edstrom myopathy C566343|603689||hmerf C566343|603689||mprm C566343|603689||myopathy proximal with early respiratory muscle involvement D018404||isochromosomes D018404||isochromosome C563654|610842||pseudoxanthoma elasticum like disorder with multiple coagulation factor deficiency C563654|610842||pxe like disorder with multiple coagulation factor deficiency C563570||monophalangy of great toe 105200|C538249||amyloidosis familial visceral 105200|C538249||amyloidosis 8 105200|C538249||amyloidosis familial renal 105200|C538249||amyloidosis systemic nonneuropathic 105200|C538249||amyloidosis viii 105200|C538249||german type amyloidosis 105200|C538249||ostertag type amyloidosis C567934|188570||thyroid hormone resistance generalized autosomal dominant C567934|188570||hyperthyroxinemia familial euthyroid secondary to pituitary and peripheral resistance to thyroid hormones C537286||gonadal dysgenesis xx type deafness C537286||17 beta hydroxysteroid dehydrogenase 4 deficiency of C537286||ovarian dysgenesis with sensorineural deafness C537286||peroxisomal bifunctional enzyme complex deficiency C537286||perrault syndrome C563573||mitral valve prolapse myxomatous 1 C563573||myxomatous mitral valve prolapse 1 C537287||goodman camptodactyly C537287||acrocephalopolysyndactyly type 4 C537287||acrocephalopolysyndactyly type iv C537287||goodman syndrome D018420||ape diseases D018420||ape disease D018420||disease ape D018420||disease pongidae D018420||diseases ape D018420||diseases pongidae D018420||pongidae disease D018420||pongidae diseases C563572||mitral regurgitation conductive deafness and fusion of cervical vertebrae and of carpal and tarsal bones C537284||gombo syndrome C537284||growth retardation ocular abnormalities microcephaly brachydactyly and oligophrenia 239000||paget disease juvenile C563578||myopathy cataract hypogonadism syndrome C563578||ocular myopathy with hypogonadism C563576||progressive external ophthalmoplegia with hypogonadism C537288||gordon syndrome C537288||arthrogryposis distal type 3 C537288||arthrogryposis multiplex congenita distal type 2a C537288||arthrogryposis multiplex congenita distal type iia C537288||camptodactyly cleft palate and clubfoot C537288||distal arthrogryposis type 3 C537289||gorlin bushkell jensen syndrome C567193|612717||myopia 15 C567193|612717||myopia 15 autosomal dominant C567193|612717||myp15 D007766||lacrimal apparatus diseases D007766||apparatus disease lacrimal D007766||apparatus diseases lacrimal D007766||disease lacrimal apparatus D007766||diseases lacrimal apparatus D007766||epiphora D007766||lacrimal apparatus disease D007767||lacrimal duct obstruction D007767||duct obstruction lacrimal D007767||duct obstructions lacrimal D007767||lacrimal duct obstructions D007767||obstruction lacrimal duct D007767||obstructions lacrimal duct D020721||nervous system autoimmune disease experimental D020721||autoimmune disease models nervous system D020721||autoimmune experimental myositis D020721||autoimmune myositis experimental D020721||disease models autoimmune nervous system D020721||experimental autoimmune myositis D020721||experimental myositis autoimmune D020721||myositis autoimmune experimental D020721||myositis experimental autoimmune D020721||nervous system autoimmune disease models C562656|233910||hyperphenylalaninemia bh4 deficient b C562656|233910||gtp cyclohydrolase i deficiency C562656|233910||gtp cyclohydrolase i deficiency dystonia dopa responsive with or without hyperphenylalaninemia autosomal recessive included C562656|233910||hpabh4b C562656|233910||hyperphenylalaninemia tetrahydrobiopterin deficient due to gtp cyclohydrolase i deficiency D020720||myasthenia gravis autoimmune experimental D020720||autoimmune experimental myasthenia gravis D020720||experimental autoimmune myasthenia gravis passive transfer D020720||experimental myasthenia D020720||experimental myasthenia gravis D020720||experimental myasthenias D020720||myasthenia experimental D020720||myasthenia gravis experimental D020720||myasthenia gravis experimental autoimmune D020720||myasthenias experimental D020720||passive transfer experimental autoimmune myasthenia gravis C537282||goldstein hutt syndrome C537282||long eyelashes cataract and hereditary spherocytosis C537282||trichomegaly cataract and hereditary spherocytosis C537283||gollop coates syndrome C537283||bifurcation of distal humerus with oligoectro syndactyly D006431||hemobilia D006431||biliary tract hemorrhage D006431||biliary tract hemorrhages D006431||hemobilias D006431||hemorrhage biliary tract D007762||labyrinthitis D007762||labyrinthitides D007762||otitis interna C537280||goldblatt viljoen syndrome C537280||autosomal dominant radial ray hypoplasia syndrome C537280||goldblatt viljoen radial ray hypoplasia C537280||radial ray hypoplasia with choanal hypoplasia D018419||primate diseases D018419||disease primate D018419||diseases primate D018419||primate disease C563581||microphthalmia isolated with corectopia C563581||mcopcr C563581||microphthalmia and corectopia C563581||microphthalmia with myopia and corectopia 108900||atrial septal defect 7 with or without atrioventricular conduction defects 108900||asd7 108900||asd with or without atrioventricular conduction defects D018410||pneumonia bacterial D018410||bacterial pneumonia D018410||bacterial pneumonias D018410||pneumonias bacterial C563580||tauopathy and respiratory failure C537297||autosomal dominant lateral temporal lobe epilepsy C537297||autosomal dominant partial epilepsy with auditory features C563540||atrial septal defect 3 C564871||progesterone resistance C564871||pseudocorpus luteum insufficiency C537298||autosomal recessive nonsyndromic congenital nuclear cataract C537298||congenital nuclear cataract autosomal recessive C564870||prolactin deficiency with obesity and enlarged testes C537295||granulomatous angiitis of the central nervous system C537295||granulomatous angiitis of cns C537295||granulomatous angiitis of the nervous system C537296||granulosa cell tumor of the ovary C537296||adult granulosa cell tumor of the ovary C537296||gct of the ovary C537296||granulosa theca cell tumor C537296||granulosa theca cell tumor of the ovary D006408||hematoma subdural D006408||hematomas subdural D006408||hematomas traumatic subdural D006408||hematoma traumatic subdural D006408||hemorrhages subdural D006408||hemorrhage subdural D006408||subdural hematoma D006408||subdural hematomas D006408||subdural hematomas traumatic D006408||subdural hematoma traumatic D006408||subdural hemorrhage D006408||subdural hemorrhages D006408||traumatic subdural hematoma D006408||traumatic subdural hematomas C563545||continuous muscle fiber activity hereditary C564876||polyhydramnios chronic idiopathic C564876||lactogen receptor defect of chorion D006409||hematometra D006409||hematometras C564875||bonneau syndrome C564875||polysyndactyly with cardiac malformation C537140|601101||osler rendu weber syndrome 3 C537140|601101||hht3 C537140|601101||telangiectasia hereditary hemorrhagic type 3 D006406||hematoma D006406||hematomas C563543||myopathy distal with onset in infancy C564874||popliteal pterygium syndrome lethal type C564874||aslan multiple pterygium syndrome C564874||bartsocas papas syndrome C564874||multiple pterygium syndrome aslan type C564874||pterygium popliteal lethal type D006407||hematoma epidural cranial D006407||cranial epidural hematoma D006407||cranial epidural hematomas D006407||cranial epidural hemorrhage D006407||cranial epidural hemorrhages D006407||cranial extradural hematoma D006407||cranial extradural hematomas D006407||cranial extradural hemorrhage D006407||cranial extradural hemorrhages D006407||epidural hematoma cranial D006407||epidural hematoma intracranial D006407||epidural hematomas cranial D006407||epidural hematomas intracranial D006407||epidural hemorrhage cranial D006407||epidural hemorrhages cranial D006407||extradural hematoma cranial D006407||extradural hematomas cranial D006407||extradural hemorrhage cranial D006407||extradural hemorrhages cranial D006407||hematoma cranial epidural D006407||hematoma cranial extradural D006407||hematoma epidural intracranial D006407||hematoma intracranial epidural D006407||hematomas cranial epidural D006407||hematomas cranial extradural D006407||hematomas intracranial epidural D006407||hemorrhage cranial epidural D006407||hemorrhage cranial extradural D006407||hemorrhages cranial epidural D006407||hemorrhages cranial extradural D006407||intracranial epidural hematoma D006407||intracranial epidural hematomas C563542||myopathy with storage of glycoproteins and glycosaminoglycans D007738||kyphosis D007738||kyphoses C564873||prenatal bowing C563549||myoclonus cerebellar ataxia and deafness C564879||polyneuropathy mixed of early onset C537290||gorlin chaudhry moss syndrome C537290||craniofacial dysostosis patent ductus arteriosus hypertrichosis hypoplasia of labia majora dental and eye anomalies C537290||gcm syndrome D006402||hematologic diseases D006402||blood disease D006402||blood diseases D006402||disease blood D006402||disease hematologic D006402||disease hematological D006402||diseases blood D006402||diseases hematologic D006402||diseases hematological D006402||hematological disease D006402||hematological diseases D006402||hematologic disease D007733||kyasanur forest disease D007733||disease kyasanur forest D007733||forest disease kyasanur C564878||polyglucosan body disease adult form C564878||adult polyglucosan body disease C563546||myoglobinuria autosomal dominant C564877||polysaccharide storage of unusual C537293||grant syndrome D007732||kwashiorkor D007732||kwashiorkors C537294||granulomas congenital cerebral C537294||congenital cerebral granulomas C537291||gracile bone dysplasia C537291||habrodysplasia C537291||osteocraniosplenic syndrome C537291||osteocraniostenosis C537291||skeletal dysplasia lethal with gracile bones C537292||graham boyle troxell syndrome C537292||cystic hamartomata of lung and kidney D005171|227600||factor x deficiency D005171|227600||deficiencies factor x D005171|227600||deficiency factor x D005171|227600||deficiency stuart prower D005171|227600||deficiency stuart prower factor D005171|227600||f10 deficiency D005171|227600||factor x deficiencies D005171|227600||stuart prower deficiency D005171|227600||stuart prower factor deficiency C564767|274230||thymoma familial C564767|274230||thymic neoplasia D063926||drug hypersensitivity syndrome D063926||dress syndrome D063926||dress syndromes D063926||drug hypersensitivity syndromes D063926||drug reaction with eosinophilia and systemic symptoms D063926||drug reaction with eosinophilia and systemic symptoms syndrome D063926||hypersensitivity syndrome drug D063926||hypersensitivity syndromes drug D063926||syndrome drug hypersensitivity D063926||syndromes drug hypersensitivity C538208|176500||dementia familial british C538208|176500||cerebral amyloid angiopathy british type C538208|176500||cerebral amyloid angiopathy itm2b related 1 C538208|176500||fbd C538208|176500||presenile dementia with spastic ataxia C537437|608643||aromatic amino acid decarboxylase deficiency C537437|608643||aadc deficiency C537437|608643||aromatic l amino acid decarboxylase deficiency C537437|608643||ddc deficiency C537437|608643||dopa decarboxylase deficiency 607488|C538002||dystonia 15 myoclonic 607488|C538002||dyt15 C563552||myasthenia limb girdle autoimmune C563552||myasthenia gravis limb girdle C564883||pleoconial myopathy with salt craving C536109|237310||n acetyl glutamate synthetase deficiency C536109|237310||hyperammonemia due to n acetylglutamate synthetase deficiency C536109|237310||n acetylglutamate synthase deficiency C536109|237310||n acetylglutamate synthetase deficiency C536109|237310||nags deficiency C564882||polycystic kidney cataract and congenital blindness C563550||myoclonic epilepsy hartung type C564881||polycystic kidney disease potter type i with microbrachycephaly hypertelorism and brachymelia C564880||polydactyly postaxial with dental and vertebral anomalies D006417||hematuria D006417||hematurias C563554||muscular dystrophy pseudohypertrophic with internalized capillaries C564885||plasma clot retraction factor deficiency of C563553||muscular hypoplasia congenital universal of krabbe C564884||platelet prostacyclin receptor defect C564884||vienna hietzing defect C563559||muscular atrophy malignant neurogenic C563558||muscular dystrophy barnes type D007744||obstetric labor complications D007744||complication labor D007744||complication obstetric labor D007744||complications labor D007744||complications obstetric labor D007744||labor complication D007744||labor complication obstetric D007744||labor complications D007744||labor complications obstetric D007744||obstetric labor complication 101200|D000168||acrocephalosyndactylia 101200|D000168||acrocephalosyndactylias 101200|D000168||acrocephalosyndactylies type 1 101200|D000168||acrocephalosyndactylies type 3 101200|D000168||acrocephalosyndactylies type i 101200|D000168||acrocephalosyndactylies type ii 101200|D000168||acrocephalosyndactylies type iii 101200|D000168||acrocephalosyndactylies type v 101200|D000168||acrocephalosyndactyly apert 101200|D000168||acrocephalosyndactyly iii 101200|D000168||acrocephalosyndactyly iiis 101200|D000168||acrocephalosyndactyly type 1 101200|D000168||acrocephalosyndactyly type 3 101200|D000168||acrocephalosyndactyly type i 101200|D000168||acrocephalosyndactyly type ii 101200|D000168||acrocephalosyndactyly type iii 101200|D000168||acrocephalosyndactyly type ii included 101200|D000168||acrocephaly skull asymmetry and mild syndactyly 101200|D000168||acs1 101200|D000168||acs i apert crouzon disease included 101200|D000168||acs ii included 101200|D000168||apert crouzon disease 101200|D000168||apert syndrome 101200|D000168||blepharophimosis epicanthus inversus and ptosis 3 formerly included bpes3 formerly included 101200|D000168||craniofacial skeletal dermatologic dysplasia 101200|D000168||disease apert crouzon 101200|D000168||dysostosis craniofacialis with hypertelorism 101200|D000168||kurczynski casperson syndrome 101200|D000168||noack syndrome 101200|D000168||noack syndromes 101200|D000168||scs 101200|D000168||syndactylic oxycephalies 101200|D000168||syndactylic oxycephaly 101200|D000168||syndrome apert 101200|D000168||syndrome chotzen 101200|D000168||syndrome kurczynski casperson 101200|D000168||syndrome noack 101200|D000168||syndrome pfeiffer 101200|D000168||syndrome saethre chotzen 101200|D000168||syndromes noack 101200|D000168||type i acrocephalosyndactylies 101200|D000168||type i acrocephalosyndactyly 101200|D000168||type ii acrocephalosyndactylies 101200|D000168||type ii acrocephalosyndactyly 101200|D000168||type iii acrocephalosyndactyly 101200|D000168||type v acrocephalosyndactylies 101200|D000168||type v acrocephalosyndactyly 101200|D000168||vogt cephalodactyly included D012148|102300||restless legs syndrome D012148|102300|C538443||acromelalgia hereditary D012148|102300||disease willis ekbom D012148|102300||ekbom syndrome D012148|102300||periodic limb movements in sleep D012148|102300||restless legs D012148|102300||restless legs syndrome susceptibility to 1 D012148|102300||restless legs syndrome susceptibility to 2 D012148|102300||restless legs syndrome susceptibility to 3 D012148|102300||restless legs syndrome susceptibility to 4 D012148|102300||restless legs syndrome susceptibility to 5 D012148|102300||restless legs syndrome susceptibility to 6 D012148|102300||restless legs syndrome susceptibility to 7 D012148|102300||restless leg syndrome D012148|102300||rls1 D012148|102300||rls2 D012148|102300||rls3 D012148|102300||rls4 D012148|102300||rls5 D012148|102300||rls6 D012148|102300||rls7 D012148|102300||syndrome restless leg D012148|102300||syndrome willis ekbom D012148|102300||syndrome wittmaack ekbom D012148|102300||willis ekbom disease D012148|102300||willis ekbom syndrome D012148|102300||wittmaack ekbom syndrome C565251|606187||alzheimer disease 7 C565251|606187||ad7 C565251|606187||alzheimer disease familial 7 C535746|608104||congenital disorder of glycosylation type 1h C535746|608104||cdg1h C535746|608104||cdgih C535746|608104||cdg ih C535746|608104||congenital disorder of glycosylation type ih 300615|C563156||brunner syndrome 607596|C548069||pontocerebellar hypoplasia type 1 607596|C548069||pch1 607596|C548069||pch1a 607596|C548069||pontocerebellar hypoplasia type 1a 607596|C548069||pontocerebellar hypoplasia with anterior horn cell disease 607596|C548069||pontocerebellar hypoplasia with infantile spinal muscular atrophy 102200|D049912||growth hormone secreting pituitary adenoma 102200|D049912||acromegaly due to pituitary adenoma 102200|D049912||acromegaly due to pituitary adenoma pituitary adenoma predisposition included 102200|D049912||adenoma somatotroph 102200|D049912||adenomas somatotroph 102200|D049912||fipa included 102200|D049912||fis 102200|D049912||gh secreting pituitary adenoma 102200|D049912||gh secreting pituitary adenomas 102200|D049912||ifs 102200|D049912||isolated familial somatotropinoma 102200|D049912||pap included 102200|D049912||pituitary adenoma familial isolated included 102200|D049912||pituitary adenoma gh secreting 102200|D049912||pituitary adenoma growth hormone secreting 102200|D049912||pituitary adenomas gh secreting 102200|D049912||pituitary growth hormone secreting adenoma 102200|D049912||somatostatin analog resistance to included 102200|D049912||somatotroph adenoma 102200|D049912||somatotroph adenomas 102200|D049912||somatotrophinoma familial 102200|D049912||somatotropinoma familial isolated 301590|C564457||microphthalmia syndromic 4 301590|C564457||anop1 formerly 301590|C564457||mcops4 301590|C564457||microphthalmia with ankyloblepharon and mental retardation 180100|C538365||retinitis pigmentosa 1 180100|C538365||rp1 C537231||samson viljoen syndrome C537232||sanderson fraser syndrome C537232||proptosis robin association clenched hands and multiple abnormalities 300158||arthrogryposis congenital lower limb x linked 300158||acllx 300158||amcx5 formerly 300158||arthrogryposis x linked type v formerly C537230||samson gardner syndrome C537230||craniosynostosis microcephaly hydrancephaly humero radial synostosis and thumb aplasia C564854||reese retinal dysplasia C538567||hyperinsulinism autosomal recessive C537235||santos mateus leal syndrome C537235||hirschsprung disease deafness and polydactyly C563522||neurofibromatosis pheochromocytoma duodenal carcinoid syndrome C563522||duodenal carcinoid syndrome C564853||renal and mullerian duct hypoplasia D007718||knee injuries D007718||injuries knee D007718||injury knee D007718||knee injury C537233||sandhaus ben ami syndrome C537233||patella hypoplasia skeletal malformations C537234||sandifer syndrome C537234||sandifer apos s syndrome C563527||retinal degeneration autosomal recessive clumped pigment type D007713||klinefelter syndrome D007713||48 xxyy syndrome D007713||49 xxxxy syndrome D007713||klinefelter apos s syndrome D007713||klinefelters syndrome D007713||klinefelter syndromes D007713||klinefelter syndromes variants D007713||klinefelter syndrome variants D007713||syndrome 48 xxyy D007713||syndrome klinefelter D007713||syndrome klinefelter apos s D007713||syndromes 49 xxxxy D007713||syndromes klinefelter D007713||syndromes variants klinefelter D007713||syndromes xxy D007713||syndromes xxyy D007713||syndrome variants klinefelter D007713||syndrome xxy D007713||syndrome xxyy D007713||trisomies xxy D007713||trisomy xxy D007713||xxxy male D007713||xxxy males D007713||xxy syndrome D007713||xxy syndromes D007713||xxy trisomies D007713||xxy trisomy D007713||xxyy syndrome D007713||xxyy syndromes C563526||retinitis pigmentosa 27 C564857||radiculoneuropathy fatal neonatal D007714||klippel feil syndrome D007714||cervical fusion syndrome D007714||dystrophia brevicollis congenita D007714||dystrophia brevicollis congenitas D007714||klippel feil sequence D007714||syndrome klippel feil D007714||vertebral cervical fusion syndrome C564856||radioulnar synostosis unilateral with developmental retardation and hypotonia C563524||nf1 microdeletion syndrome C535460|246700||chylomicron retention disease C535460|246700||andd C535460|246700||anderson disease C535460|246700||anderson syndrome C535460|246700||cmrd C535460|246700||hypobetalipoproteinemia with accumulation of apolipoprotein b like protein in intestinal cells C535460|246700||lipid transport defect of intestine D007710||klebsiella infections D007710||infection klebsiella D007710||infections klebsiella D007710||klebsiella infection C563529||myopathy actin congenital with excess of thin myofilaments 607364|C537653||bartter syndrome type 3 607364|C537653||bartter syndrome classic 607364|C537653||bartter syndrome classic bartter syndrome type 3 with hypocalciuria included 241410|C537157||hypoparathyroidism retardation dysmorphism syndrome 241410|C537157||hrd 241410|C537157||hypoparathyroidism congenital associated with dysmorphism growth retardation and developmental delay 241410|C537157||hypoparathyroidism with short stature mental retardation and seizures 241410|C537157||sanjad sakati syndrome C537228||salcedo syndrome C537228||glomerular basement membrane disease nail patella syndrome type C537228||nail patella like renal disease C537229||sammartino de crecchio syndrome C536602|604537||amaurosis congenita of leber type 5 C536602|604537||lca5 C536602|604537||leber congenital amaurosis 5 C536602|604537||leber congenital amaurosis type 5 C538558||bilateral kienbock apos s disease C537226||saito kuba tsuruta syndrome C537226||fibuloulnar aplasia or hypoplasia with renal abnormalities C537226||fibulo ulnar hypoplasia renal anomalies C567649|613309||diamond blackfan anemia 10 C567649|613309||dba10 C538557||renal cell carcinoma 1 C537227||sakati syndrome C537227||acps iii C537227||acps with leg hypoplasia C537227||acrocephalopolysyndactyly type 3 C537227||acrocephalopolysyndactyly type iii C537227||sakati nyhan syndrome 608864||orofacial cleft 6 susceptibility to 608864||cleft lip with or without cleft palate nonsyndromic 6 608864||ofc6 C580095||familial osteochondritis dissecans C564833|268150||rh null regulator type C564833|268150||rh deficiency syndrome included C564833|268150||rhn C564833|268150||rh null disease C564833|268150||rh null disease included C563530||necrotizing encephalomyelopathy subacute of leigh adult C563530||leigh syndrome adult C564861||pygmy C564861||pygmy african C537242||prosopagnosia hereditary C537242||face blindness C537242||prosopagnosia congenital C537243||prostate cancer familial C537243||hereditary prostate cancer C538572||familial progressive supranuclear palsy C537246||hemiplegic migraine familial type 2 C537246||familial hemiplegic migraine type 2 C563533||nasal alar collapse bilateral C564864||pseudouridinuria and mental defect D007729||kuru D007729||encephalopathy kuru D007729||kuru encephalopathy C537247||hemochromatosis type 2 C537247||hemochromatosis juvenile C537247||juvenile hemochromatosis C564863||pulmonary bullae causing pneumothorax C537244||prostatic malacoplakia associated with prostatic abscess C537244||prostatic malacoplakia with prostatic and seminal vesicle abscess C564862||pulmonary hypertension primary autosomal recessive C537245||prostatic stromal proliferation of uncertain malignant potential C564869||pseudohermaphroditism female with skeletal anomalies D007724||vulvar lichen sclerosus D007724||kraurosis vulvae D007724||lichen sclerosus of vulva D007724||lichen sclerosus vulvar D007724||sclerosus vulvar lichen D007724||vulvae kraurosis D007724||vulva lichen sclerosus C564868||polycystic ovarian disease due to 17 ketosteroid reductase deficiency D007725||krukenberg tumor D007725||carcinoma krukenberg D007725||krukenberg carcinoma D007725||krukenberg apos s tumor D007725||krukenbergs tumor D007725||tumor krukenberg D007725||tumor krukenberg apos s C563535||myotonic myopathy with cylindrical spirals C564866||acrootoocular syndrome C564866||pseudopapilledema ocular hypotelorism blepharophimosis and hand anomalies C563991|600138||retinitis pigmentosa 11 C563991|600138||rp11 C565237|606325||heterotaxy visceral 3 autosomal C565237|606325||htx3 608850||macular dystrophy retinal 3 608850||mcdr3 608852||pulmonary function 608852||lung function accelerated rate of decline in smoking related 608852||plf C564520|300029||retinitis pigmentosa 3 C564520|300029||choroidoretinal degeneration with retinal reflex in heterozygous women C564520|300029||cone rod degeneration x linked C564520|300029||retinitis pigmentosa 15 C564520|300029||rp15 C564520|300029||rp3 C537239||mengel konigsmark syndrome C537239||conductive hearing loss and malformed low set ears C537239||ear deformity and conductive hearing loss C537239||familial congenital moderate neural hearing loss D019701||hepatitis d chronic D019701||chronic delta hepatitides D019701||chronic delta hepatitis D019701||chronic hepatitis d D019701||delta hepatitides chronic D019701||delta hepatitis chronic D019701||hepatitides chronic delta D019701||hepatitis chronic delta C537238||melhem fahl syndrome C537238||fifteen dorsal vertebrae and rib pairs C538585||oral facial digital syndrome type 2 C538585||orofaciodigital syndrome 2 C537254||hemorrhagic shock and encephalopathy syndrome C563853|608808||transposition of the great arteries dextro looped 1 C563853|608808||d tga C563853|608808||dtga1 300136||diabetes mellitus insulin dependent x linked susceptibility to 300136||iddmx 300136||insulin dependent diabetes mellitus x linked susceptibility to C563501||ophthalmomandibulomelic dysplasia C563500||ophthalmoplegia familial static C563500||external ophthalmoplegia congenital hereditary nonprogressive C537258||fibrolamellar hepatocellular carcinoma C537258||fibrolamellar variant of hepatocellular carcinoma C537258||hepatocellular carcinoma fibrolamellar variant C538586||hyperostosis frontalis interna obesity shortness and cognitive impairment C537256||vascular purpura C563505||olivopontocerebellar atrophy v C563505||opca with dementia and extrapyramidal signs C563503||onycholysis partial with scleronychia 162400||neuropathy hereditary sensory and autonomic type ia 162400||hsan1a 162400||hsan ia 162400||hsn1a 162400||hsn ia 162400||neuropathy hereditary sensory radicular autosomal dominant type 1a 162400||neuropathy hereditary sensory type ia C563509||schilbach rott syndrome ocular hypotelorism submucosal cleft palate and hypospadias C563509||blepharofacioskeletal syndrome C563509||cleft palate hypotelorism and hypospadias C563509||ocular hypotelorism submucosal cleft palate and hypospadias C563508||oculopharyngodistal myopathy C564839||retinohepatoendocrinologic syndrome C564838||retinopathy pericentral pigmentary autosomal recessive C564838||retinitis pigmentosa pericentral C537152|154020||hypomagnesemia 2 renal C537152|154020||homg2 C537152|154020||magnesium loss isolated renal C537152|154020||magnesium wasting renal C563506||onychogryposis pedal with keratosis plantaris and coarse hair 608840||muscular dystrophy dystroglycanopathy congenital with mental retardation type b 6 608840||mdc1d 608840||mddgb6 608840||muscular dystrophy congenital large related 277300||scdo1 277300||vertebral anomalies C536856|607152||spastic paraplegia 19 autosomal dominant C536856|607152||spg19 607514||body mass index quantitative trait locus 10 607514||bmiq10 C580075||familial acute myeloid leukemia with mutated cebpa C580075||cebpa dependent familial acute myeloid leukemia C580075||familial acute myeloid leukaemia 300143||mrx34 D012288||rickettsiaceae infections D012288||infection rickettsiaceae D012288||infections rickettsiaceae D012288||rickettsiaceae infection D012288||rickettsialpox C538596||peritoneal retractile mesenteritis C538595||mermaid syndrome C538595||fused legs and feet C538595||mermaid malformation C538595||sirenomelia sequence C538595||sirenomelus 300147||prostate cancer hereditary x linked 1 300147||hpcx1 300147||pcsx 300147||prostate cancer susceptibility x linked C537263||lamellar ichthyosis autosomal dominant form C537263||autosomal dominant lamellar ichthyosis C537263||ichthyosiform erythroderma nonbullous dominant form C537263||ichthyosis lamellar autosomal dominant C537263||lamellar ichthyosis autosomal dominant C537263||lamellar ichthyosis dominant C563512||noduli cutanei multiple with urinary tract abnormalities C537268||formaldehyde poisoning C537268||formaldehyde exposure C537268||formaldehyde toxicity C537268||formalin intoxication C537268||formalin toxicity C564842||retinitis pigmentosa inversa with deafness 611376|C548078||mungan syndrome 611376|C548078||mgs 611376|C548078||pseudoobstruction chronic idiopathic intestinal with barrett esophagus and cardiac abnormalities 611376|C548078||visceral neuromyopathy familial with pseudoobstruction megaduodenum barrett esophagus and cardiac abnormalities C567166|610532||leukodystrophy hypomyelinating 5 C567166|610532||hld5 C567166|610532||hypomyelination and congenital cataract C567166|610532||hypomyelination and congenital cataract hcc C537269||forney robinson pascoe syndrome C537269||congenital heart disease deafness and skeletal malformations C564841||retinitis pigmentosa deafness mental retardation and hypogonadism C537266||landy donnai syndrome C537266||hydrops ectrodactyly syndactyly duplication of the great toes C564840||retinitis pigmentosa late adult onset C564840||retinitis pigmentosa senile 256731|C575534||ceroid lipofuscinosis neuronal 5 256731|C575534||ceroid lipofuscinosis neuronal 5 variable age at onset 256731|C575534||ceroid lipofuscinosis neuronal 5 variable age at onset neuronal ceroid lipofuscinosis late infantile finnish variant included 256731|C575534||cln5 256731|C575534||finnish vlincl 256731|C575534||finnish vlincl included 256731|C575534||neuronal ceroid lipofuscinosis 5 256731|C575534||neuronal ceroid lipofuscinosis finnish variant late infantile 256731|C575534||vlincl C563516||neuropathy with paraprotein in serum cerebrospinal fluid and urine C564847||retinal degeneration and epilepsy C563514||hypertension resistant to conventional therapy D050336|253250||mulibrey nanism D050336|253250||mulibrey nanism syndrome D050336|253250||muscle liver brain eye nanism D050336|253250||nanism mulibrey D050336|253250||nanism muscle liver brain eye D050336|253250||nanism syndrome mulibrey D050336|253250||perheentupa syndrome D050336|253250|C538604||pericardial constriction and growth failure D050336|253250||syndrome mulibrey nanism D050336|253250||syndrome perheentupa C564844||retinal dystrophy reticular pigmentary of posterior pole C537260||hereditary koilonychia C537260||congenital koilonychia C537260||familial koilonychia C537260||koilonychia hereditary C563519||ganglioneuromatosis of the alimentary tract C564849||renal genital and middle ear anomalies C538590||necrotizing encephalopathy infantile subacute of leigh C538590||leigh apos s necrotizing encephalopathy C563517||neuropathy hereditary sensorimotor with upper motor neuron visual pathway and autonomic disturbance C564848||respiratory underresponsiveness to hypoxia and hypercapnia D000130|100800||achondroplasia D000130|100800||ach D000130|100800||achondroplasias D000130|100800||achondroplasia severe with developmental delay and acanthosis nigricans D000130|100800||dysplasia saddan D000130|100800||dysplasias saddan D000130|100800||saddan D000130|100800||saddan dysplasia D000130|100800||saddan dysplasias D000130|100800||saddans D000130|100800||severe achondroplasia with developmental delay and acanthosis nigricans D000130|100800||skeleton skin brain syndrome D000130|100800||skeleton skin brain syndromes D000130|100800||syndrome skeleton skin brain D000130|100800||syndromes skeleton skin brain D062625||cystadenofibroma D062625||adenofibroma clear cell D062625||adenofibromas clear cell D062625||benign clear cell adenofibroma D062625||benign cystadenofibroma D062625||benign cystadenofibromas D062625||borderline clear cell adenofibroma D062625||borderline cystadenofibroma D062625||borderline cystadenofibromas D062625||clear cell adenofibroma D062625||clear cell adenofibromas D062625||cystadenofibroma benign D062625||cystadenofibroma borderline D062625||cystadenofibromas D062625||cystadenofibromas benign D062625||cystadenofibromas borderline C580087||familial hyperaldosteronism D012295||rift valley fever D012295||fever rift valley D012298||rigor mortis D012298||mortis rigor C580083||familial exudative vitreoretinopathy C538640||limb girdle muscular dystrophy autosomal recessive C563600||masticatory muscles hypertrophy of C563600||masseter muscle hypertrophy C564931||oliver syndrome C564931||postaxial polydactyly and mental retardation D012391||root resorption D012391||resorption root D012391||resorptions root D012391||root resorptions C564930||olivopontocerebellar atrophy ii autosomal recessive C564930||opca ii fickler winkler type C567757|613094||microphthalmia isolated 4 C567757|613094||mcop4 C538641||congenital facial linear porokeratosis C565234|606348||inflammatory bowel disease 5 C565234|606348||ibd5 C563604||cataract cortical pulverulent late onset C563603||cataract polymorphic and lamellar C564934||oculotrichodysplasia C563602||mannose binding protein deficiency C563602||mannose binding lectin deficiency C563602||mannose binding lectin protein deficiency C563602||mbl2 deficiency C563602||mbl deficiency C563602||mbp deficiency C563601||mannose 6 phosphate receptor recognition defect lebanese type C563601||phosphodiester glycoside deficiency C563607||macular dystrophy fenestrated sheen type C564938||nystagmus congenital motor autosomal recessive C564937||ocular myopathy with curare sensitivity D061205||vascular calcification D061205||calcifications vascular D061205||calcification vascular D061205||calcinoses vascular D061205||calcinosis vascular D061205||vascular calcifications D061205||vascular calcinoses D061205||vascular calcinosis D061206||neoplasm micrometastasis D061206||micrometastase neoplasm D061206||micrometastases D061206||micrometastases neoplasm D061206||micrometastasis D061206||micrometastasis neoplasm D061206||neoplasm micrometastase D061206||neoplasm micrometastases C537848|257320||norman roberts lissencephaly syndrome C537848|257320||lis2 C537848|257320||lissencephaly 2 C537848|257320||lissencephaly syndrome norman roberts type C537848|257320||norman roberts syndrome D011668|265450||pulmonary veno occlusive disease D011668|265450||diseases pulmonary veno occlusive D011668|265450||pulmonary venoocclusive disease D011668|265450||pulmonary venoocclusive disease 1 autosomal dominant D011668|265450||pulmonary venoocclusive diseases D011668|265450||pulmonary veno occlusive diseases D011668|265450||pvod D011668|265450||pvod1 D011668|265450||venoocclusive disease pulmonary D011668|265450||veno occlusive disease pulmonary D011668|265450||venoocclusive diseases pulmonary D011668|265450||veno occlusive diseases pulmonary D011052||poliomyelitis bulbar D011052||bulbar polio D011052||bulbar poliomyelitis D011052||medullary involvement poliomyelitis D011052||polio bulbar D011052||poliomyelitis medullary involvement C538637||autosomal dominant diffuse lewy body disease C537305||groll hirschowitz syndrome C537305||deafness nerve type with mesenteric diverticula of small bowel and progressive sensory neuropathy D011051||poliomyelitis D011051||acute poliomyelitis D011051||acute poliomyelitis epidemic D011051||encephalitis polio D011051||epidemic acute poliomyelitis D011051||infantile paralysis D011051||nonpoliovirus poliomyelitis D011051||paralysis infantile D011051||polio D011051||polio encephalitis D011051||poliomyelitides preparalytic D011051||poliomyelitis acute D011051||poliomyelitis epidemic acute D011051||poliomyelitis nonpoliovirus D011051||poliomyelitis preparalytic D011051||polios D011051||preparalytic poliomyelitis C537835|136550||macular dystrophy retinal 1 north carolina type C537835|136550||caped C537835|136550||central areolar pigment epithelial dystrophy C537835|136550||foveal dystrophy progressive C537835|136550||mcdr1 C537835|136550||ncmd C537835|136550||north carolina macular dystrophy C537835|136550||retinal pigment epithelial dystrophy central C538636||familial letterer siwe disease C538636||histiocytosis x acute disseminated C537306||grover apos s disease C537306||grover disease C537306||transient acantholytic dermatosis C580174||huntington disease like syndrome C580174||huntington disease like syndromes C580174||huntington apos s disease like syndromes C580174||huntington apos s disease phenocopies C580174||huntington apos s disease phenocopy syndromes 300244||terminal osseous dysplasia 300244||odpd 300244||odpf 300244||odpf syndrome 300244||tod 300244||todpd C537320||microcephalic osteodysplastic primordial dwarfism type 3 C537320||microcephalic osteodysplastic primordial dwarfism caroline crachami type C537320||microcephalic osteodysplastic primordial dwarfism sicilian fairy type C537320||microcephalic osteodysplastic primordial dwarfism type iii C537320||mopd iii C537320||osteodysplastic primordial dwarfism type 3 C537320||osteodysplastic primordial dwarfism type iii D007805||language development disorders D007805||auditory processing disorder central D007805||central auditory processing disorder D007805||delay speech D007805||delays speech D007805||developmental disorder speech or language D007805||developmental language disorder D007805||developmental language disorders D007805||development disorder language D007805||language delay D007805||language delays D007805||language development disorder D007805||language disorder developmental D007805||language disorders developmental D007805||semantic pragmatic disorder D007805||semantic pragmatic disorders D007805||speech delay D007805||speech delays D007805||speech or language developmental disorder C564942||neutrophil actin dysfunction C537323||microcephaly autosomal dominant C537323||microcephaly with autosomal dominant inheritance C563610||sebaceous tumors somatic D007806||language disorders D007806||acquired language disorder D007806||acquired language disorders D007806||language disorder D007806||language disorder acquired D007806||language disorders acquired C564941||niemann pick disease nova scotian type C537321||microcephalic primordial dwarfism toriello type C537321||microcephalic primordial dwarfism and cataracts C537322||microcephaly albinism digital anomalies syndrome C537322||albinism microcephaly digital anomalies syndrome C564946||neuropathy hereditary sensory atypical C564945||neuropathy painful C563613||lumbar stenosis familial C564944||neurovisceral storage disease with curvilinear bodies C563612||lymphedema and cerebral arteriovenous anomaly C564943||neutropenia lethal congenital with eosinophilia C563618||lp a deficiency congenital C563618||lipoprotein a deficiency congenital C537698|601553||juvenile macular degeneration and hypotrichosis C537698|601553||hjmd C537698|601553||hypotrichosis congenital with juvenile macular dystrophy C537698|601553||hypotrichosis with cone rod dystrophy C537698|601553||juvenile macular dystrophy and congenital hypotrichosis C563617||lipoprotein types lp system lp a hyperlipoproteinemia C565210|610250||spastic paraplegia 31 autosomal dominant C565210|610250||spg31 C564947||neuropathy hereditary motor and sensory with excessive myelin folding complex autosomal recessive C564947||charcot marie tooth disease with excessive myelin folding autosomal recessive C563873|608696||glaucoma 1 open angle k C563873|608696||glaucoma primary open angle juvenile onset 3 C563873|608696||glc1k C563873|608696||joag3 220600|C565647||split hand foot malformation with sensorineural hearing loss 220600|C565647||deafness congenital and split hands and feet 220600|C565647||deafness congenital with split hands and feet 220600|C565647||shfm1d 220600|C565647||split hand foot malformation 1 with sensorineural hearing loss autosomal recessive C032598||heavy chain disease proteins human C538648||lysosomal alpha n acetylgalactosaminidase deficiency C535717|604484||neuropathy hereditary motor and sensory okinawa type C535717|604484||hereditary motor and sensory neuropathy proximal type C535717|604484||hmsno C535717|604484||hmsnp C538646||high serum cholesterol familial C538646||hyperlipidema familial C538646||hyperlipoproteinemia type 2 a D012393||rosacea D012393||acne rosacea D012393||erythematotelangiectatic rosacea D012393||granulomatous rosacea D012393||ocular rosacea D012393||papulopustular rosacea D012393||phymatous rosacea D012393||rosacea erythematotelangiectatic D012393||rosacea granulomatous D012393||rosacea ocular D012393||rosacea papulopustular D012393||rosacea phymatous C537318||splenogonadal fusion limb defects micrognatia C537318||splenogonadal fusion limb defects syndrome C537318||splenogonadal fusion limb defect syndrome C537318||splenogonadal fusion with limb defects and micrognathia C580182||hyperparathyroidism jaw tumor syndrome C580182||familial cystic parathyroid adenomatosis C580182||familial primary hyperparathyroidism with multiple ossifying jaw fibromas C580182||hereditary hyperparathyroidism jaw tumor syndrome C580182||hpt jt C537319||split hand split foot nystagmus C537319||karsch neugebauer syndrome C537319||nystagmus split hand syndrome C537319||split hand nystagmus syndrome C537319||split hand with congenital nystagmus fundal changes and cataracts C538662||recurrent trigger thumb C538662||bilateral trigger thumb C538662||congenital trigger thumb C536130|606129||anemia diamond blackfan 2 C536130|606129||dba2 C536130|606129||diamond blackfan anemia 2 D056734|158000||monilethrix D056734|158000||hair nodose D056734|158000||hairs nodose D056734|158000||monilethrices D056734|158000||nodose hair D056734|158000||nodose hairs C536000||acanthosis nigricans muscle cramps acral enlargement C536000||acanthosis nigricans with muscle cramps and acral enlargement C536003||accessory pancreas C537334||sideroblastic anemia autosomal C537334||sideroblastic anemia autosomal recessive inheritance C538665||watermelon stomach disease C567462|300758||hypospadias 2 x linked C567462|300758||hysp2 C537335||siegler brewer carey syndrome C538664||pica syndrome C538664||vertebral artery syndrome C536001||accessory deep peroneal nerve C536001||peroneal nerve accessory deep C536002||accessory navicular bone C536002||navicular bone accessory D061220||oculomotor nerve injuries D061220||avulsion oculomotor nerve D061220||avulsions oculomotor nerve D061220||contusion oculomotor nerve D061220||contusions oculomotor nerve D061220||cranial nerve iii injury D061220||injuries oculomotor nerve D061220||injury cranial nerve iii D061220||injury oculomotor nerve D061220||injury third cranial nerve D061220||nerve avulsion oculomotor D061220||nerve avulsions oculomotor D061220||nerve contusion oculomotor D061220||nerve contusions oculomotor D061220||nerve injuries oculomotor D061220||nerve injury oculomotor D061220||nerve transection oculomotor D061220||nerve transections oculomotor D061220||nerve trauma oculomotor D061220||nerve traumas oculomotor D061220||neuropathies traumatic oculomotor D061220||neuropathy traumatic oculomotor D061220||oculomotor nerve avulsion D061220||oculomotor nerve avulsions D061220||oculomotor nerve contusion D061220||oculomotor nerve contusions D061220||oculomotor nerve injury D061220||oculomotor nerve transection D061220||oculomotor nerve transections D061220||oculomotor nerve trauma D061220||oculomotor nerve traumas D061220||oculomotor neuropathies traumatic D061220||oculomotor neuropathy traumatic D061220||palsies traumatic third nerve D061220||palsy traumatic third nerve D061220||third cranial nerve injuries D061220||third cranial nerve injury D061220||third nerve palsies traumatic D061220||third nerve palsy traumatic D061220||third nerve trauma D061220||third nerve traumas D061220||transection oculomotor nerve D061220||transections oculomotor nerve D061220||trauma oculomotor nerve D061220||traumas oculomotor nerve D061220||traumas third nerve D061220||trauma third nerve D061220||traumatic oculomotor neuropathies D061220||traumatic oculomotor neuropathy D061220||traumatic third nerve palsies D061220||traumatic third nerve palsy C564912||otoonychoperoneal syndrome D000382||agricultural workers apos diseases D000382||agricultural worker disease D000382||agricultural worker diseases D000382||agricultural worker apos s disease D000382||agricultural workers disease D000382||agricultural workers apos disease D000382||agricultural worker apos s diseases D000382||agricultural workers diseases D000382||disease agricultural worker D000382||disease agricultural worker apos s D000382||disease agricultural workers apos D000382||diseases agricultural worker D000382||diseases agricultural worker apos s D000382||diseases agricultural workers apos D000382||worker disease agricultural D000382||worker diseases agricultural D000382||worker apos s disease agricultural D000382||workers apos disease agricultural D000382||worker apos s diseases agricultural D000382||workers apos diseases agricultural D061221||trigeminal nerve injuries D061221||avulsions trigeminal nerve D061221||avulsion trigeminal nerve D061221||contusions trigeminal nerve D061221||contusion trigeminal nerve D061221||cranial nerve v injury D061221||fifth cranial nerve injuries D061221||fifth cranial nerve injury D061221||fifth nerve palsies traumatic D061221||fifth nerve palsy traumatic D061221||fifth nerve trauma D061221||fifth nerve traumas D061221||injuries trigeminal nerve D061221||injury cranial nerve v D061221||injury fifth cranial nerve D061221||injury trigeminal nerve D061221||nerve avulsions trigeminal D061221||nerve avulsion trigeminal D061221||nerve contusions trigeminal D061221||nerve contusion trigeminal D061221||nerve injuries trigeminal D061221||nerve injury trigeminal D061221||nerve transections trigeminal D061221||nerve transection trigeminal D061221||nerve traumas trigeminal D061221||nerve trauma trigeminal D061221||neuropathies traumatic trigeminal D061221||neuropathy traumatic trigeminal D061221||palsies traumatic fifth nerve D061221||palsy traumatic fifth nerve D061221||transections trigeminal nerve D061221||transection trigeminal nerve D061221||trauma fifth nerve D061221||traumas fifth nerve D061221||traumas trigeminal nerve D061221||traumatic fifth nerve palsies D061221||traumatic fifth nerve palsy D061221||traumatic trigeminal neuropathies D061221||traumatic trigeminal neuropathy D061221||trauma trigeminal nerve D061221||trigeminal nerve avulsion D061221||trigeminal nerve avulsions D061221||trigeminal nerve contusion D061221||trigeminal nerve contusions D061221||trigeminal nerve injury D061221||trigeminal nerve transection D061221||trigeminal nerve transections D061221||trigeminal nerve trauma D061221||trigeminal nerve traumas D061221||trigeminal neuropathies traumatic D061221||trigeminal neuropathy traumatic D000381||agraphia D000381||acquired agraphia D000381||acquired agraphias D000381||acquired dysgraphia D000381||acquired dysgraphias D000381||agraphia acquired D000381||agraphia constructional D000381||agraphia developmental D000381||agraphia pure D000381||agraphias D000381||agraphias acquired D000381||agraphias constructional D000381||agraphias developmental D000381||agraphias pure D000381||constructional agraphia D000381||constructional agraphias D000381||developmental agraphia D000381||developmental agraphias D000381||developmental dysgraphia D000381||developmental dysgraphias D000381||dysgraphia D000381||dysgraphia acquired D000381||dysgraphia developmental D000381||dysgraphias D000381||dysgraphias acquired D000381||dysgraphias developmental D000381||pure agraphia D000381||pure agraphias D061222||lingual nerve injuries D061222||contusion lingual nerve D061222||contusions lingual nerve D061222||injuries lingual nerve D061222||injury lingual nerve D061222||lingual nerve contusion D061222||lingual nerve contusions D061222||lingual nerve injury D061222||lingual nerve transection D061222||lingual nerve transections D061222||lingual neuropathy traumatic D061222||nerve contusion lingual D061222||nerve contusions lingual D061222||nerve injuries lingual D061222||nerve injury lingual D061222||nerve transection lingual D061222||nerve transections lingual D061222||transection lingual nerve D061222||transections lingual nerve C564910||pallidal degeneration progressive with retinitis pigmentosa D061223||vagus nerve injuries D061223||avulsions vagus nerve D061223||avulsion vagus nerve D061223||contusions vagus nerve D061223||contusion vagus nerve D061223||cranial nerve x injury D061223||injuries vagus nerve D061223||injury cranial nerve x D061223||injury tenth cranial nerve D061223||injury vagus nerve D061223||nerve avulsions vagus D061223||nerve avulsion vagus D061223||nerve contusions vagus D061223||nerve contusion vagus D061223||nerve injuries vagus D061223||nerve injury vagus D061223||nerve transections vagus D061223||nerve transection vagus D061223||nerve traumas vagus D061223||nerve trauma vagus D061223||neuropathies traumatic vagus D061223||neuropathy traumatic vagus D061223||palsies traumatic tenth nerve D061223||palsy traumatic tenth nerve D061223||tenth cranial nerve injuries D061223||tenth cranial nerve injury D061223||tenth nerve palsies traumatic D061223||tenth nerve palsy traumatic D061223||tenth nerve trauma D061223||tenth nerve traumas D061223||transections vagus nerve D061223||transection vagus nerve D061223||traumas tenth nerve D061223||traumas vagus nerve D061223||trauma tenth nerve D061223||traumatic tenth nerve palsies D061223||traumatic tenth nerve palsy D061223||traumatic vagus neuropathies D061223||traumatic vagus neuropathy D061223||trauma vagus nerve D061223||vagus nerve avulsion D061223||vagus nerve avulsions D061223||vagus nerve contusion D061223||vagus nerve contusions D061223||vagus nerve injury D061223||vagus nerve transection D061223||vagus nerve transections D061223||vagus nerve trauma D061223||vagus nerve traumas D061223||vagus neuropathies traumatic D061223||vagus neuropathy traumatic C564917||osteoma of middle ear D000387||ainhum D000387||dactylolyses spontaneous D000387||dactylolysis spontanea D000387||dactylolysis spontaneous D000387||spontaneous dactylolyses D000387||spontaneous dactylolysis C567672|608980||bifid nose with or without anorectal and renal anomalies C567672|608980||bnar D061224||laryngeal nerve injuries D061224||avulsion laryngeal nerve D061224||avulsions laryngeal nerve D061224||contusion laryngeal nerve D061224||contusions laryngeal nerve D061224||injuries laryngeal nerve D061224||injury laryngeal nerve D061224||laryngeal nerve avulsion D061224||laryngeal nerve avulsions D061224||laryngeal nerve contusion D061224||laryngeal nerve contusions D061224||laryngeal nerve injury D061224||laryngeal nerve transection D061224||laryngeal nerve transections D061224||laryngeal nerve trauma D061224||laryngeal nerve traumas D061224||laryngeal neuropathies traumatic D061224||laryngeal neuropathy traumatic D061224||nerve avulsion laryngeal D061224||nerve avulsions laryngeal D061224||nerve contusion laryngeal D061224||nerve contusions laryngeal D061224||nerve injuries laryngeal D061224||nerve injury laryngeal D061224||nerve transection laryngeal D061224||nerve transections laryngeal D061224||nerve trauma laryngeal D061224||nerve traumas laryngeal D061224||neuropathies traumatic laryngeal D061224||neuropathy traumatic laryngeal D061224||transection laryngeal nerve D061224||transections laryngeal nerve D061224||trauma laryngeal nerve D061224||traumas laryngeal nerve D061224||traumatic laryngeal neuropathies D061224||traumatic laryngeal neuropathy C564916||osteomalacia sclerosing with cerebral calcification D000386||aids related complex D000386||arc D000386||complex aids related D000386||lymphadenopathy syndrome D000386||lymphadenopathy syndromes D000386||syndrome lymphadenopathy D000386||syndromes lymphadenopathy D061226||recurrent laryngeal nerve injuries D061226||recurrent laryngeal nerve contusion D061226||recurrent laryngeal nerve injury D061226||recurrent laryngeal nerve transection D061226||recurrent laryngeal nerve trauma D061226||recurrent laryngeal neuropathy traumatic D061227||accessory nerve injuries D061227||accessory nerve avulsion D061227||accessory nerve avulsions D061227||accessory nerve contusion D061227||accessory nerve contusions D061227||accessory nerve injury D061227||accessory nerve transection D061227||accessory nerve transections D061227||accessory nerve trauma D061227||accessory nerve traumas D061227||accessory neuropathies traumatic D061227||accessory neuropathy traumatic D061227||avulsion accessory nerve D061227||avulsions accessory nerve D061227||contusion accessory nerve D061227||contusions accessory nerve D061227||cranial nerve xi injury D061227||eleventh cranial nerve injuries D061227||eleventh cranial nerve injury D061227||eleventh nerve palsies traumatic D061227||eleventh nerve palsy traumatic D061227||eleventh nerve trauma D061227||eleventh nerve traumas D061227||injuries accessory nerve D061227||injury accessory nerve D061227||injury cranial nerve xi D061227||injury eleventh cranial nerve D061227||nerve avulsion accessory D061227||nerve avulsions accessory D061227||nerve contusion accessory D061227||nerve contusions accessory D061227||nerve injuries accessory D061227||nerve injury accessory D061227||nerve transection accessory D061227||nerve transections accessory D061227||nerve trauma accessory D061227||nerve traumas accessory D061227||neuropathies traumatic accessory D061227||neuropathy traumatic accessory D061227||palsies traumatic eleventh nerve D061227||palsy traumatic eleventh nerve D061227||spinal accessory nerve avulsion D061227||spinal accessory nerve contusion D061227||spinal accessory nerve injury D061227||spinal accessory nerve transection D061227||spinal accessory nerve trauma D061227||spinal accessory neuropathy traumatic D061227||transection accessory nerve D061227||transections accessory nerve D061227||trauma accessory nerve D061227||trauma eleventh nerve D061227||traumas accessory nerve D061227||traumas eleventh nerve D061227||traumatic accessory neuropathies D061227||traumatic accessory neuropathy D061227||traumatic eleventh nerve palsies D061227||traumatic eleventh nerve palsy C567190||keratosis familial actinic D061228||hypoglossal nerve injuries D061228||avulsion hypoglossal nerve D061228||avulsions hypoglossal nerve D061228||contusion hypoglossal nerve D061228||contusions hypoglossal nerve D061228||cranial nerve xii injury D061228||hypoglossal nerve avulsion D061228||hypoglossal nerve avulsions D061228||hypoglossal nerve contusion D061228||hypoglossal nerve contusions D061228||hypoglossal nerve injury D061228||hypoglossal nerve transection D061228||hypoglossal nerve transections D061228||hypoglossal nerve trauma D061228||hypoglossal nerve traumas D061228||hypoglossal neuropathies traumatic D061228||hypoglossal neuropathy traumatic D061228||injuries hypoglossal nerve D061228||injury cranial nerve xii D061228||injury hypoglossal nerve D061228||injury twelfth cranial nerve D061228||nerve avulsion hypoglossal D061228||nerve avulsions hypoglossal D061228||nerve contusion hypoglossal D061228||nerve contusions hypoglossal D061228||nerve injuries hypoglossal D061228||nerve injury hypoglossal D061228||nerve transection hypoglossal D061228||nerve transections hypoglossal D061228||nerve trauma hypoglossal D061228||nerve traumas hypoglossal D061228||neuropathies traumatic hypoglossal D061228||neuropathy traumatic hypoglossal D061228||palsies traumatic twelfth nerve D061228||palsy traumatic twelfth nerve D061228||transection hypoglossal nerve D061228||transections hypoglossal nerve D061228||trauma hypoglossal nerve D061228||traumas hypoglossal nerve D061228||traumas twelfth nerve D061228||traumatic hypoglossal neuropathies D061228||traumatic hypoglossal neuropathy D061228||traumatic twelfth nerve palsies D061228||traumatic twelfth nerve palsy D061228||trauma twelfth nerve D061228||twelfth cranial nerve injuries D061228||twelfth cranial nerve injury D061228||twelfth nerve palsies traumatic D061228||twelfth nerve palsy traumatic D061228||twelfth nerve trauma D061228||twelfth nerve traumas C567816|613008||biliary cirrhosis primary 3 C567816|613008||pbc3 D011030||pneumothorax D011030||pneumothorax pressure D011030||pneumothorax spontaneous D011030||pneumothoraxs pressure D011030||pneumothoraxs primary spontaneous D011030||pneumothoraxs spontaneous D011030||pneumothoraxs tension D011030||pneumothorax tension D011030||pressure pneumothorax D011030||pressure pneumothoraxs D011030||primary spontaneous pneumothorax D011030||primary spontaneous pneumothoraxs D011030||spontaneous pneumothorax D011030||spontaneous pneumothorax primary D011030||spontaneous pneumothoraxs D011030||spontaneous pneumothoraxs primary D011030||tension pneumothorax D011030||tension pneumothoraxs C567198||microcephaly primary autosomal recessive 7 C537327||short syndrome C537327||lipodystrophy partial with rieger anomaly and short stature C538657||van der hoeve halbertsma waardenburg gualdi syndrome C538657||mende syndrome C538657||ptosis epicanthus syndrome C537325||microcephaly cervical spine fusion anomalies C537325||microcephaly mild mental retardation short stature and skeletal anomalies C537325||microcephaly with cervical spine fusion anomalies C567199||kallmann syndrome 6 C537326||microcephaly deafness syndrome C537326||kawashima tsuji syndrome C537326||syndrome of microcephaly deafness malformed ears mental retardation and peculiar facies C580150||hereditary diffuse leukoencephalopathy with spheroids C580150||adult onset leukodystrophy with neuroaxonal spheroids C580150||autosomal dominant leukoencephalopathy with neuroaxonal spheroids C580150||hereditary diffuse leukoencephalopathy with axonal spheroids C580150||neuroaxonal leukodystrophy C567513|611820||long qt syndrome 11 C567513|611820||lqt11 C537329||shprintzen omphalocele syndrome C537329||laryngeal and pharyngeal hypoplasia with omphalocele C537329||pharynx and larynx hypoplasia with omphalocele C537329||shprintzen goldberg omphalocele syndrome 607501|D020326||migraine without aura 607501|D020326||common migraine 607501|D020326||common migraines 607501|D020326||mgoa 607501|D020326||mgr4 607501|D020326||migraine common 607501|D020326||migraines common 607501|D020326||migraine without aura susceptibility to 4 C536010||achalasia microcephaly C536010||achalasia microcephaly syndrome C537341||singh chhaparwal dhanda syndrome C538670||x linked infantile spasm syndrome C538670||early infantile epileptic encephalopathy C538670||x linked infantile spasms C538670||x linked west syndrome C538676||melanodermic leukodystrophy C537346||mesangial sclerosis diffuse C537346||diffuse isolated mesangial sclerosis C537346||diffuse mesangial sclerosis C537346||familial mesangial sclerosis C537346||isolated diffuse mesangial sclerosis C537346||mesangial sclerosis familial C537346||mesangial sclerosis isolated diffuse C537346||nephrotic syndrome early onset with diffuse mesangial sclerosis C536012||achard syndrome C536012||arachnodactyly receding lower jaw and joint laxity limited to the hands and feet C536012||dysostoses and increased ligament laxity C536013||achard thiers syndrome C536013||adenoma associated virilism of older women C536013||bearded female with diabetes C536013||diabetes in bearded women C536013||diabetic bearded woman syndrome C537344||sinonasal undifferentiated carcinoma C564923||osteodysplasia familial anderson type C567384|612244||inflammatory bowel disease 13 C567384|612244||ibd13 C564992|136900||fundus dystrophy pseudoinflammatory of sorsby C564992|136900||macular dystrophy hemorrhagic C564992|136900||sfd C564922||osteodysplasty precocious of danks mayne and kozlowski C564927||ophthalmoplegia totalis with ptosis and miosis D024343||open bite D024343||apertognathia D024343||bite open D024343||nonocclusion D024343||openbite C564925||ophthalmoplegic neuromuscular disorder with abnormal mitochondria C565315|605598||diabetes mellitus insulin dependent 18 C565315|605598||iddm18 C565315|605598||insulin dependent diabetes mellitus 18 D061218||depressive disorder treatment resistant D061218||depression refractory D061218||depressions refractory D061218||depressions therapy resistant D061218||depressions treatment resistant D061218||depression therapy resistant D061218||depression treatment resistant D061218||depressive disorders treatment resistant D061218||disorders treatment resistant depressive D061218||disorder treatment resistant depressive D061218||refractory depression D061218||refractory depressions D061218||resistant depressions treatment D061218||resistant depression treatment D061218||therapy resistant depression D061218||therapy resistant depressions D061218||treatment resistant depression D061218||treatment resistant depressions D061218||treatment resistant depressive disorder D061218||treatment resistant depressive disorders D061219||olfactory nerve injuries D061219||avulsion olfactory nerve D061219||avulsions olfactory nerve D061219||contusion olfactory nerve D061219||contusions olfactory nerve D061219||cranial nerve i injury D061219||first cranial nerve injuries D061219||first cranial nerve injury D061219||first nerve palsies traumatic D061219||first nerve palsy traumatic D061219||first nerve trauma D061219||first nerve traumas D061219||injuries olfactory nerve D061219||injury cranial nerve i D061219||injury first cranial nerve D061219||injury olfactory nerve D061219||nerve avulsion olfactory D061219||nerve avulsions olfactory D061219||nerve contusion olfactory D061219||nerve contusions olfactory D061219||nerve injuries olfactory D061219||nerve injury olfactory D061219||nerve transection olfactory D061219||nerve transections olfactory D061219||nerve trauma olfactory D061219||nerve traumas olfactory D061219||neuropathies traumatic olfactory D061219||neuropathy traumatic olfactory D061219||olfactory nerve avulsion D061219||olfactory nerve avulsions D061219||olfactory nerve contusion D061219||olfactory nerve contusions D061219||olfactory nerve injury D061219||olfactory nerve transection D061219||olfactory nerve transections D061219||olfactory nerve trauma D061219||olfactory nerve traumas D061219||olfactory neuropathies traumatic D061219||olfactory neuropathy traumatic D061219||palsies traumatic first nerve D061219||palsy traumatic first nerve D061219||transection olfactory nerve D061219||transections olfactory nerve D061219||trauma first nerve D061219||trauma olfactory nerve D061219||traumas first nerve D061219||traumas olfactory nerve D061219||traumatic first nerve palsies D061219||traumatic first nerve palsy D061219||traumatic olfactory neuropathies D061219||traumatic olfactory neuropathy C536974|107480||townes brocks syndrome C536974|107480||anal ear renal radial malformation syndrome C536974|107480||anus imperforate with hand foot and ear anomalies C536974|107480||deafness imperforate anus hypoplastic thumbs syndrome C536974|107480||deafness sensorineural with imperforate anus and hypoplastic thumbs C536974|107480||deafness sensorineural with imperforate anus and thumb anomalies C536974|107480||deafness sensorineural with imperforate anus and thumb anomalies townes brocks branchiootorenal like syndrome included C536974|107480||imperforate anus hand and foot anomalies syndrome C536974|107480||rear syndrome C536974|107480||renal ear anal radial syndrome C536974|107480||renal ear anal radial syndrome rear C536974|107480||sensorineural deafness imperforate anus hypoplastic thumbs syndrome C536974|107480||tbs C536974|107480||townes syndrome D011041||poisoning D011041||poisonings D012373||rocky mountain spotted fever D012373||sao paulo typhus D012373||typhus sao paulo C537338||sillence syndrome C537338||brachydactyly distal symphalangism syndrome D011040||dermatitis toxicodendron D011040||dermatitides poison ivy D011040||dermatitides rhus D011040||dermatitides toxicodendron D011040||dermatitis poison ivy D011040||dermatitis rhus D011040||poison ivy dermatitides D011040||poison ivy dermatitis D011040||rhus dermatitides D011040||rhus dermatitis D011040||toxicodendron dermatitides D011040||toxicodendron dermatitis C538013|208920||early onset ataxia with oculomotor apraxia and hypoalbuminemia C538013|208920||aoa C538013|208920||aoa1 C538013|208920||ataxia adult onset with oculomotor apraxia C538013|208920||ataxia early onset with oculomotor apraxia and hypoalbuminemia C538013|208920||ataxia oculomotor apraxia 1 C538013|208920||ataxia oculomotor apraxia syndrome C538013|208920||ataxia telangiectasia like syndrome C538013|208920||cerebellar ataxia early onset with hypoalbuminemia C538013|208920||cerebellar ataxia early onset with hypoalbuminemia eoca ha ataxia adult onset with oculomotor apraxia included C538013|208920||eaoh C538013|208920||early onset ataxia with ocular motor apraxia and hypoalbuminemia C538013|208920||early onset cerebellar ataxia with hypoalbuminemia C538669||korsakoff apos s amnesic syndrome C537339||simosa cranio facial syndrome C537339||simosa craniofacial syndrome C536005||cytosolic acetoacetyl coa thiolase deficiency C536005||acat2 deficiency C536005||acetocoenzyme a acetyltransferase 2 deficiency C536005||acetyl coa acetyltransferase 2 deficiency C537336||silengo lerone pelizza syndrome C538667||midline granulomatosis C536006||acetylcarnitine deficiency C537337||silicosiderosis C537337||hematite pneumoconiosis C537337||iron miners lung D011045||poland syndrome D011045||anomaly poland D011045||poland anomaly D011045||poland sequence D011045||poland syndactyly D011045||syndactyly poland D011045||syndrome poland C580162||hereditary sensory and autonomic neuropathy type ie C580162||dnmt1 related dementia deafness and sensory neuropathy C580162||hereditary sensory and autonomic neuropathy type 1 with dementia and hearing loss C580162||hereditary sensory neuropathy type ie C580162||hsnie C580162||hsn ie C563714|609464||sarcoidosis early onset D012376||rodent diseases D012376||disease rodent D012376||diseases rodent D012376||rodent disease 105150|D028243||cerebral amyloid angiopathy familial 105150|D028243||amyloidosis cerebroarterial icelandic type 105150|D028243||amyloidosis icelandic type 105150|D028243||amyloidosis vi 105150|D028243||amyloidosis vis 105150|D028243||autosomal dominant cerebrovascular amyloidosis 105150|D028243||cerebral amyloid angiopathy cst3 related 105150|D028243||cerebral amyloid angiopathy genetic 105150|D028243||cerebral amyloid angiopathy hereditary 105150|D028243||cerebral hemorrhage hereditary with amyloidosis 105150|D028243||dutch type hereditary cerebral amyloid angiopathy 105150|D028243||familial cerebral amyloid angiopathy 105150|D028243||hchwa 105150|D028243||hereditary cerebral amyloid angiopathy 105150|D028243||hereditary cerebral amyloid angiopathy dutch type 105150|D028243||hereditary cerebral amyloid angiopathy icelandic type 105150|D028243||hereditary cerebral hemorrhage with amyloidosis 105150|D028243||icelandic type amyloidosis 105150|D028243||icelandic type hereditary cerebral amyloid angiopathy C564685|606658||spinocerebellar ataxia 15 C564685|606658||sca16 formerly C564685|606658||spinocerebellar ataxia 15 sca15 spinocerebellar ataxia 16 formerly C567168||leydig cell adenoma somatic with male limited precocious puberty D061247||trochlear nerve injuries D061247||avulsions trochlear nerve D061247||avulsion trochlear nerve D061247||contusions trochlear nerve D061247||contusion trochlear nerve D061247||cranial nerve iv injury D061247||fourth cranial nerve injuries D061247||fourth cranial nerve injury D061247||fourth nerve palsies traumatic D061247||fourth nerve palsy traumatic D061247||fourth nerve trauma D061247||fourth nerve traumas D061247||injuries trochlear nerve D061247||injury cranial nerve iv D061247||injury fourth cranial nerve D061247||injury trochlear nerve D061247||nerve avulsions trochlear D061247||nerve avulsion trochlear D061247||nerve contusions trochlear D061247||nerve contusion trochlear D061247||nerve injuries trochlear D061247||nerve injury trochlear D061247||nerve transections trochlear D061247||nerve transection trochlear D061247||nerve traumas trochlear D061247||nerve trauma trochlear D061247||neuropathies traumatic trochlear D061247||neuropathy traumatic trochlear D061247||palsies traumatic fourth nerve D061247||palsy traumatic fourth nerve D061247||transections trochlear nerve D061247||transection trochlear nerve D061247||trauma fourth nerve D061247||traumas fourth nerve D061247||traumas trochlear nerve D061247||traumatic fourth nerve palsies D061247||traumatic fourth nerve palsy D061247||traumatic trochlear neuropathies D061247||traumatic trochlear neuropathy D061247||trauma trochlear nerve D061247||trochlear nerve avulsion D061247||trochlear nerve avulsions D061247||trochlear nerve contusion D061247||trochlear nerve contusions D061247||trochlear nerve injury D061247||trochlear nerve transection D061247||trochlear nerve transections D061247||trochlear nerve trauma D061247||trochlear nerve traumas D061247||trochlear neuropathies traumatic D061247||trochlear neuropathy traumatic D011016||pneumonia atypical interstitial of cattle D011016||adenomatoses bovine pulmonary D011016||adenomatosis bovine pulmonary D011016||adenomatosis pulmonary bovine D011016||atypical interstitial pneumonia of cattle D011016||bovine pulmonary adenomatoses D011016||bovine pulmonary adenomatosis D011016||emphysema acute bovine pulmonary D011016||fever fog D011016||fog fever D011016||pulmonary adenomatoses bovine D011016||pulmonary adenomatosis bovine C538371|268130||revesz debuse syndrome C538371|268130||dkca5 C538371|268130||dyskeratosis congenita autosomal dominant 5 C538371|268130||exudative retinopathy with bone marrow failure C538371|268130||revesz syndrome D011015||pneumonia aspiration D011015||acid aspiration syndrome D011015||acid aspiration syndromes D011015||aspiration pneumonia D011015||aspiration pneumonias D011015||gastric acid aspiration syndrome D011015||mendelson apos s syndrome D011015||mendelsons syndrome D011015||mendelson syndrome D011015||pneumonias aspiration D011015||syndrome acid aspiration D011015||syndrome mendelson D011015||syndrome mendelson apos s D011015||syndromes acid aspiration 125851|C564219||maturity onset diabetes of the young type 2 125851|C564219||mody2 125851|C564219||mody glucokinase related 125851|C564219||mody glucokinase related diabetes gestational included 125851|C564219||mody type 2 D011018||pneumonia pneumococcal D011018||pneumococcal pneumonia D011018||pneumococcal pneumonias D011018||pneumonias pneumococcal D011017||pneumonia lipid D011017||lipid pneumonia D011017||lipid pneumonias D011017||pneumonias lipid D011019||pneumonia mycoplasma D011019||atypical pneumonia primary D011019||atypical pneumonias primary D011019||mycoplasma pneumonia D011019||mycoplasma pneumonias D011019||pneumonia primary atypical D011019||pneumonias mycoplasma D011019||pneumonias primary atypical D011019||primary atypical pneumonia D011019||primary atypical pneumonias C567084|608634||neuronopathy distal hereditary motor type iib C567084|608634||dhmn2b C567084|608634||hmn2b C567084|608634||hmn iib C567084|608634||neuropathy distal hereditary motor type iib C565717|610153||deafness autosomal recessive 49 C565717|610153||dfnb49 C567176||faciocardiomelic syndrome 607499|D052018||bulimia nervosa 607499|D052018||anon2 included 607499|D052018||anorexia nervosa susceptibility to 2 included 607499|D052018||bn 607499|D052018||bulimia nervosa susceptibility to 1 607499|D052018||bulimia nervosa susceptibility to 2 607499|D052018||buln1 607499|D052018||buln2 607499|D052018||nervosa bulimia C580130||glycogen storage disease type ix C580130||gsdix C580130||gsd ix C580130||phk deficiency C580130||phosphorylase b kinase deficiency C580130||phosphorylase kinase deficiency C567172||osteopenic nonfracture syndrome 300200||adrenal insufficiency progressive and hypogonadotropic hypogonadism included 300200|D000312||ahc 300200||ahch 300200||ahc with hhg 300200||ahc with isolated gonadotropin deficiency adrenal hypoplasia congenital with precocious puberty included 300200||ahx 300200||mineralocorticoid deficiency isolated included C567171||osteolysis hereditary of carpal bones with or without nephropathy C567171||multicentric osteolysis autosomal dominant D011014||pneumonia D011014||experimental lung inflammation D011014||experimental lung inflammations D011014||inflammation experimental lung D011014||inflammation lung D011014||inflammation pulmonary D011014||inflammations lung D011014||inflammations pulmonary D011014||lobar pneumonia D011014||lung inflammation D011014||lung inflammation experimental D011014||lung inflammations D011014||lung inflammations experimental D011014||pneumonia lobar D011014||pneumonias D011014||pneumonitides D011014||pneumonitis D011014||pulmonary inflammation D011014||pulmonary inflammations C567174||myokymia 1 C567173||nf1 microduplication syndrome D000379||agoraphobia D000379||agoraphobias 169150|C536309||patterned dystrophy of retinal pigment epithelium 169150|C536309||butterfly dystrophy of retinal pigment epithelium 169150|C536309||butterfly shaped pigment dystrophy of the fovea 169150|C536309||macular dystrophy butterfly shaped pigmentary 169150|C536309||macular dystrophy butterfly shaped pigmentary 2 D000370||ageusia D000370||ageusia hysterical D000370||ageusias hysterical D000370||hypogeusia D000370||hypogeusias D000370||hysterical ageusia D000370||hysterical ageusias D000370||taste blindness D000377||agnosia D000377||agnosia auditory D000377||agnosia body image D000377||agnosia congenital auditory D000377||agnosia developmental D000377||agnosia finger D000377||agnosia for pain D000377||agnosia for smell D000377||agnosia for taste D000377||agnosia for tastes D000377||agnosia for temperature D000377||agnosia gustatory D000377||agnosia ideational D000377||agnosia olfactory D000377||agnosia position D000377||agnosias D000377||agnosias auditory D000377||agnosias body image D000377||agnosias congenital auditory D000377||agnosias developmental D000377||agnosia sensory D000377||agnosias finger D000377||agnosias ideational D000377||agnosias olfactory D000377||agnosia somatosensory D000377||agnosias position D000377||agnosias sensory D000377||agnosias somatosensory D000377||agnosias tactile D000377||agnosias time D000377||agnosias topographical D000377||agnosias visual D000377||agnosias visuospatial D000377||agnosia tactile D000377||agnosia time D000377||agnosia topographical D000377||agnosia visual D000377||agnosia visuospatial D000377||anosognosia D000377||anosognosias D000377||auditory agnosia D000377||auditory agnosia congenital D000377||auditory agnosias D000377||auditory agnosias congenital D000377||body image agnosia D000377||body image agnosias D000377||congenital auditory agnosia D000377||congenital auditory agnosias D000377||developmental agnosia D000377||developmental agnosias D000377||finger agnosia D000377||finger agnosias D000377||gustatory agnosia D000377||ideational agnosia D000377||ideational agnosias D000377||olfactory agnosia D000377||olfactory agnosias D000377||position agnosia D000377||position agnosias D000377||sensory agnosia D000377||sensory agnosias D000377||somatosensory agnosia D000377||somatosensory agnosias D000377||syndromes visual disorientation D000377||syndrome visual disorientation D000377||tactile agnosia D000377||tactile agnosias D000377||time agnosia D000377||time agnosias D000377||topographical agnosia D000377||topographical agnosias D000377||visual agnosia D000377||visual agnosia for objects D000377||visual agnosias D000377||visual disorientation syndrome D000377||visual disorientation syndromes D000377||visuospatial agnosia D000377||visuospatial agnosias C564906||pancreatitis sclerosing cholangitis and sicca complex C564905||parana hard skin syndrome D011027||pneumoperitoneum D011026||pneumopericardium D011026||pneumopericardiums C562873|245480||specific granule deficiency C562873|245480||lactoferrin deficient neutrophils C562873|245480||neutrophil lactoferrin deficiency C562873|245480||sgd C567181||loeys dietz syndrome type 1b D000380||agranulocytosis D000380||agranulocytoses D000380||granulocytopenia D000380||granulocytopenias 607485||frontotemporal lobar degeneration with tdp43 inclusions grn related 607485||dementia hereditary dysphasic disinhibition hddd aphasia primary progressive included 607485||frontotemporal dementia with tdp43 inclusions grn related 607485||ftdu 607485||ftld tdp grn related 607485||ftldu 607485||ppa included C538604||pericardial constriction with growth failure C567187||best vitelliform macular dystrophy multifocal D011021||pneumonia progressive interstitial of sheep D011021||maedi D011021||progressive interstitial pneumonia of sheep C538602||mucolipidosis 2 C567189||li fraumeni like syndrome D011020||pneumonia pneumocystis D011020||pneumocystis carinii pneumonia D011020||pneumocystis pneumonia D011020||pneumocystis pneumonias D011020||pneumocystoses D011020||pneumocystosis D011020||pneumonia interstitial plasma cell D011020||pneumonia pneumocystis carinii D011020||pneumonias pneumocystis D011020||pneumonias pneumocystis carinii C536195|130010||ehlers danlos syndrome type 2 C536195|130010||eds2 C536195|130010||eds ii C536195|130010||ehlers danlos syndrome mild classic type C536195|130010||ehlers danlos syndrome mitis type C536195|130010||ehlers danlos syndrome type ii C567188||lymphedema distichiasis syndrome with renal disease and diabetes mellitus D011023||pneumonia staphylococcal D011023||pneumonias staphylococcal D011023||pneumonias staphylococcus aureus D011023||pneumonia staphylococcus aureus D011023||staphylococcal pneumonia D011023||staphylococcal pneumonias D011023||staphylococcus aureus pneumonia D011023||staphylococcus aureus pneumonias D011022||pneumonia rickettsial D011022||pneumonias rickettsial D011022||rickettsial pneumonia D011022||rickettsial pneumonias C567182||chromosome 10q26 deletion syndrome C567182||terminal chromosome 10q26 deletion syndrome D013684||telangiectasis D013684||spider vein D013684||spider veins D013684||telangiectases D013684||telangiectasia D013684||telangiectasias D013684||vein spider D013684||veins spider C567185||dandy walker malformation with occipital cephalocele autosomal dominant C567185||addwoc D011024||pneumonia viral D011024||pneumonias viral D011024||viral pneumonia D011024||viral pneumonias C567184||chromosome 3q29 deletion syndrome C567184||microdeletion 3q29 syndrome D000347||afibrinogenemia D000347||afibrinogenemias D000347|C531603||congenital afibrinogenemia D000347||deficiencies fibrinogen D000347||deficiency fibrinogen D000347||familial afibrinogenemia D000347||fibrinogen deficiencies D000347||fibrinogen deficiency 152700|D008180||lupus erythematosus systemic 152700|D008180||disease libman sacks 152700|D008180||excess lmw dna included 152700|D008180||excess lymphocyte low molecular weight dna included 152700|D008180||libman sacks disease 152700|D008180||lupus erythematosus disseminatus 152700|D008180||sle 152700|D008180||sleb1 152700|D008180||sleb10 152700|D008180||sleb11 152700|D008180||sleb12 152700|D008180||sleb13 152700|D008180||sleb14 152700|D008180||sleb15 152700|D008180||sleb2 152700|D008180||sleb3 152700|D008180||sleb4 152700|D008180||sleb5 152700|D008180||sleb6 152700|D008180||sleb7 152700|D008180||sleb8 152700|D008180||sleb9 152700|D008180||systemic lupus erythematosus 152700|D008180||systemic lupus erythematosus resistance to 1 included 152700|D008180||systemic lupus erythematosus susceptibility to 1 152700|D008180||systemic lupus erythematosus susceptibility to 10 152700|D008180||systemic lupus erythematosus susceptibility to 11 152700|D008180||systemic lupus erythematosus susceptibility to 12 152700|D008180||systemic lupus erythematosus susceptibility to 13 152700|D008180||systemic lupus erythematosus susceptibility to 14 152700|D008180||systemic lupus erythematosus susceptibility to 15 152700|D008180||systemic lupus erythematosus susceptibility to 2 152700|D008180||systemic lupus erythematosus susceptibility to 3 152700|D008180||systemic lupus erythematosus susceptibility to 4 152700|D008180||systemic lupus erythematosus susceptibility to 5 152700|D008180||systemic lupus erythematosus susceptibility to 6 152700|D008180||systemic lupus erythematosus susceptibility to 7 152700|D008180||systemic lupus erythematosus susceptibility to 8 152700|D008180||systemic lupus erythematosus susceptibility to 9 C537502|601559||stuve wiedemann syndrome C537502|601559||schwartz jampel syndrome neonatal C537502|601559||schwartz jampel syndrome type 2 C537502|601559||schwartz jampel type 2 syndrome C537502|601559||sjs2 C537502|601559||stuve wiedemann schwartz jampel type 2 syndrome C537502|601559||stws C537502|601559||sws 604129|C563192||epidermolysis bullosa pruriginosa 604129|C563192||deb pruriginosa 604129|C563192||dystrophic epidermolysis bullosa pruriginosa C567685|613244||colorectal cancer hereditary nonpolyposis type 8 C567685|613244||hnpcc8 C538620||acute brachial neuritis C538620||acute brachial neuritis syndrome C538620||acute brachial radiculitis syndrome C538620||acute shoulder neuritis D000343||afferent loop syndrome D000343||afferent loop syndromes D000343||loop syndrome afferent D000343||loop syndromes afferent D000343||syndrome afferent loop D000343||syndromes afferent loop D000341||affective disorders psychotic D000341||affective disorder psychotic D000341||affective psychoses D000341||depression reactive psychotic D000341||disorder psychotic affective D000341||disorders psychotic affective D000341||mood disorder psychotic D000341||mood disorders psychotic D000341||psychoses affective D000341||psychotic affective disorder D000341||psychotic affective disorders D000341||psychotic mood disorder D000341||psychotic mood disorders 607473||vitamin k dependent clotting factors combined deficiency of 2 218700|C566852||hypothyroidism congenital nongoitrous 2 218700|C566852||athyreotic hypothyroidism 218700|C566852||chng2 218700|C566852||hypothyroidism athyreotic 218700|C566852||hypothyroidism congenital due to thyroid dysgenesis D012327||rna virus infections D012327||infection rna virus D012327||infections rna virus D012327||rna virus infection D012327||virus infection rna D012327||virus infections rna D014987||xerostomia D014987||asialia D014987||asialias D014987||dryness mouth D014987||hyposalivation D014987||hyposalivations D014987||mouth dryness D014987||xerostomias C567154|D003093|191390||inflammatory bowel disease 11 C538614||papillary renal cell carcinoma sporadic C538614||papillary renal carcinoma malignant C538614||papillary renal cell carcinoma bilateral C538614||papillary renal cell carcinoma familial C538614||papillary renal cell carcinoma multiple C567156||loeys dietz syndrome type 2a C567155||skin hair eye pigmentation variation in 7 C567155||shep7 C567155||skin hair eye pigmentation 7 blond brown hair C567155||skin hair eye pigmentation 7 dark light skin D014985||xerophthalmia D014985||xerophthalmias C538618||donath landsteiner hemolytic anemia C538618||donath landsteiner syndrome C538618||dressler syndrome C538618||harley syndrome C538618||immune hemolytic anemia paroxysmal cold D013651||taste disorders D013651||metallic taste D013651||metallic tastes D013651||primary taste disorder D013651||primary taste disorders D013651||secondary taste disorder D013651||secondary taste disorders D013651||taste disorder D013651||taste disorder anterior tongue D013651||taste disorder posterior tongue D013651||taste disorder primary D013651||taste disorder primary bitter D013651||taste disorder primary salt D013651||taste disorder primary sweet D013651||taste disorder secondary D013651||taste disorder secondary bitter D013651||taste disorder secondary salt D013651||taste disorder secondary sweet D013651||taste disorders primary D013651||taste disorders secondary D013651||taste metallic D013651||tastes metallic C567688|613235||factor xiii b subunit deficiency of D000357||african swine fever D000357||swine fever african D000357||wart hog disease D000357||wart hog diseases C562782|307700||hypoparathyroidism x linked C562782|307700||hypx 604145|C565824||cardiomyopathy dilated 1g 604145|C565824||cmd1g C538631||olivopontocerebellar atrophy 3 C538631||autosomal dominant cerebellar ataxia type 2 C567088|611773||angiopathy hereditary with nephropathy aneurysms and muscle cramps C567088|611773||autosomal dominant familial hematuria retinal arteriolar tortuosity contractures C567088|611773||hanac C567088|611773||hanac syndrome C567088|611773||hereditary angiopathy with nephropathy aneurysm and muscle cramps syndrome C567088|611773||hereditary angiopathy with nephropathy aneurysms and muscle cramps syndrome C565186|610753||alopecia areata 2 C565186|610753||aa2 D000355||african horse sickness D000355||african horsesickness D000355||african horsesicknesses D000355||african horse sicknesses D000355||equine plague D000355||equine plagues D000355||horsesickness african D000355||horse sickness african D000355||horsesicknesses african D000355||horse sicknesses african D000355||plague equine D000355||plagues equine D000355||sickness african horse D000355||sicknesses african horse D011004||plummer vinson syndrome D011004||kelly apos s syndrome D011004||kellys syndrome D011004||patterson brown kelly syndrome D011004||patterson kelly syndrome D011004||patterson apos s syndrome D011004||pattersons syndrome D011004||patterson syndrome D011004||syndrome kelly apos s D011004||syndrome patterson brown kelly D011004||syndrome patterson kelly D011004||syndrome patterson apos s D011004||syndrome plummer vinson D011007||pneumocephalus D011007||airocele cranial D011007||airoceles cranial D011007||cranial airocele D011007||cranial airoceles D011007||cranial pneumocyst D011007||cranial pneumocysts D011007||epidural pneumocephalus D011007||gas intracranial D011007||intracranial gas D011007||pneumocephalus epidural D011007||pneumocephalus pressure D011007||pneumocephalus tension D011007||pneumocephalus traumatic D011007||pneumocyst cranial D011007||pneumocysts cranial D011007||pressure pneumocephalus D011007||tension pneumocephalus D011007||traumatic pneumocephalus D011006||pneumatosis cystoides intestinalis D011006||cystoides intestinalis pneumatosis D011006||intestinalis pneumatosis cystoides D014997||xyy karyotype D014997||karyotypes xyy D014997||karyotype xyy D014997||xyy karyotypes D011009||pneumoconiosis D011009||bagassosis D011009||pneumoconioses 222100|D003922||diabetes mellitus type 1 222100|D003922||autoimmune diabetes 222100|D003922||brittle diabetes mellitus 222100|D003922||diabetes autoimmune 222100|D003922||diabetes juvenile onset 222100|D003922||diabetes mellitus brittle 222100|D003922||diabetes mellitus insulin dependent 222100|D003922||diabetes mellitus insulin dependent 1 222100|D003922||diabetes mellitus juvenile onset 222100|D003922||diabetes mellitus ketosis prone 222100|D003922||diabetes mellitus sudden onset 222100|D003922||diabetes mellitus type i 222100|D003922||iddm 222100|D003922||iddm1 included 222100|D003922||insulin dependent diabetes mellitus 222100|D003922||insulin dependent diabetes mellitus 1 222100|D003922||insulin dependent diabetes mellitus 1 included 222100|D003922||juvenile onset diabetes 222100|D003922||juvenile onset diabetes jod diabetes mellitus insulin dependent 1 included 222100|D003922||juvenile onset diabetes mellitus 222100|D003922||ketosis prone diabetes mellitus 222100|D003922||kpd 222100|D003922||mellitus sudden onset diabetes 222100|D003922||sudden onset diabetes mellitus 222100|D003922||type 1 diabetes mellitus D011008||pneumococcal infections D011008||infection pneumococcal D011008||infections pneumococcal D011008||infections streptococcus pneumoniae D011008||infection streptococcus pneumoniae D011008||pneumococcal infection D011008||pneumoniae infections streptococcus D011008||pneumoniae infection streptococcus D011008||streptococcus pneumoniae infection D011008||streptococcus pneumoniae infections C538626||olivopontocerebellar atrophy 1 C538626||menzel type olivopontocerebellar atrophy C538626||olivopontocerebellar atrophy 4 C538626||schut haymaker type olivopontocerebellar atrophy C538626||spinocerebellar atrophy 1 C567165||palmoplantar hyperkeratosis and true hermaphroditism C567164||protein c deficiency acquired C536990|235730||mowat wilson syndrome C536990|235730||hirschsprung disease mental retardation syndrome C536990|235730||microcephaly mental retardation and distinct facial features with or without hirschsprung disease C536990|235730||mows C562600|223000||lactase deficiency congenital C562600|223000||alactasia congenital C562600|223000||disaccharide intolerance ii D011001||pleuropneumonia D011001||pleuropneumonias D011000||pleurodynia epidemic D011000||bornholm disease D011000||epidemic myalgia D011000||epidemic myalgias D011000||epidemic pleurodynia D011000||epidemic pleurodynias D011000||myalgia epidemic D011000||myalgias epidemic D011000||pleurodynias epidemic C567160||anemia sideroblastic autosomal dominant 145680|C567719||dystransthyretinemic euthyroidal hyperthyroxinemia 145680|C567719||hyperthyroxinemia dysprealbuminemic 145680|C567719||hyperthyroxinemia dystransthyretinemic C567163||thrombophilia hereditary due to protein c deficiency autosomal dominant C567163||proc deficiency autosomal dominant D011002||pleuropneumonia contagious D011002||contagious pleuropneumonia D011002||contagious pleuropneumonias D011002||pleuropneumonias contagious C567162||neuromuscular disease congenital with uniform type 1 fiber C567162||cnmdu1 D001657||biliary dyskinesia D001657||biliary dyskinesias D001657||dyskinesia biliary D001657||dyskinesia gallbladder D001657||dyskinesias biliary D001657||dyskinesias gallbladder D001657||gallbladder dyskinesia D001657||gallbladder dyskinesias D001656||biliary atresia D001656||atresia biliary D001656||atresia extrahepatic biliary D001656||atresias extrahepatic biliary D001656||biliary atresia extrahepatic D001656||biliary atresias extrahepatic D001656||extrahepatic biliary atresia D001656||extrahepatic biliary atresias D001656||familial extrahepatic biliary atresia D001656||idiopathic extrahepatic biliary atresia C567128||spondyloepiphyseal dysplasia brachydactyly and distinctive speech C567128||fantasy island syndrome C567128||sed bds C567128||tattoo dysplasia D001655||bile reflux D001655||reflux bile C536979|131705||transient bullous dermolysis of the newborn C536979|131705||dystrophic epidermolysis bullosa dominant neonatal C536979|131705||dystrophic epidermolysis bullosa neonatal C536979|131705||epidermolysis bullosa dystrophica dominant neonatal form C536979|131705||epidermolysis bullosa dystrophica neonatal form C536979|131705||tbdn C567124||ectopia lentis isolated autosomal recessive D001658||biliary fistula D001658||biliary fistulas D001658||fistula biliary D001658||fistulas biliary D061285||vestibulocochlear nerve injuries D061285||avulsions vestibulocochlear nerve D061285||avulsion vestibulocochlear nerve D061285||contusions vestibulocochlear nerve D061285||contusion vestibulocochlear nerve D061285||cranial nerve viii injury D061285||eighth cranial nerve injuries D061285||eighth cranial nerve injury D061285||eighth nerve palsies traumatic D061285||eighth nerve palsy traumatic D061285||eighth nerve trauma D061285||eighth nerve traumas D061285||injuries vestibulocochlear nerve D061285||injury cranial nerve viii D061285||injury eighth cranial nerve D061285||injury vestibulocochlear nerve D061285||nerve avulsions vestibulocochlear D061285||nerve avulsion vestibulocochlear D061285||nerve contusions vestibulocochlear D061285||nerve contusion vestibulocochlear D061285||nerve injuries vestibulocochlear D061285||nerve injury vestibulocochlear D061285||nerve transections vestibulocochlear D061285||nerve transection vestibulocochlear D061285||nerve traumas vestibulocochlear D061285||nerve trauma vestibulocochlear D061285||neuropathies traumatic vestibulocochlear D061285||neuropathy traumatic vestibulocochlear D061285||palsies traumatic eighth nerve D061285||palsy traumatic eighth nerve D061285||transections vestibulocochlear nerve D061285||transection vestibulocochlear nerve D061285||trauma eighth nerve D061285||traumas eighth nerve D061285||traumas vestibulocochlear nerve D061285||traumatic eighth nerve palsies D061285||traumatic eighth nerve palsy D061285||traumatic vestibulocochlear neuropathies D061285||traumatic vestibulocochlear neuropathy D061285||trauma vestibulocochlear nerve D061285||vestibulocochlear nerve avulsion D061285||vestibulocochlear nerve avulsions D061285||vestibulocochlear nerve contusion D061285||vestibulocochlear nerve contusions D061285||vestibulocochlear nerve injury D061285||vestibulocochlear nerve transection D061285||vestibulocochlear nerve transections D061285||vestibulocochlear nerve trauma D061285||vestibulocochlear nerve traumas D061285||vestibulocochlear neuropathies traumatic D061285||vestibulocochlear neuropathy traumatic C564713|300115||mental retardation x linked 50 C564713|300115||mrx50 D061287||glossopharyngeal nerve injuries D061287||avulsion glossopharyngeal nerve D061287||avulsions glossopharyngeal nerve D061287||contusion glossopharyngeal nerve D061287||contusions glossopharyngeal nerve D061287||cranial nerve ix injury D061287||glossopharyngeal nerve avulsion D061287||glossopharyngeal nerve avulsions D061287||glossopharyngeal nerve contusion D061287||glossopharyngeal nerve contusions D061287||glossopharyngeal nerve injury D061287||glossopharyngeal nerve transection D061287||glossopharyngeal nerve transections D061287||glossopharyngeal nerve trauma D061287||glossopharyngeal nerve traumas D061287||glossopharyngeal neuropathies traumatic D061287||glossopharyngeal neuropathy traumatic D061287||injuries glossopharyngeal nerve D061287||injury cranial nerve ix D061287||injury glossopharyngeal nerve D061287||injury ninth cranial nerve D061287||nerve avulsion glossopharyngeal D061287||nerve avulsions glossopharyngeal D061287||nerve contusion glossopharyngeal D061287||nerve contusions glossopharyngeal D061287||nerve injuries glossopharyngeal D061287||nerve injury glossopharyngeal D061287||nerve transection glossopharyngeal D061287||nerve transections glossopharyngeal D061287||nerve trauma glossopharyngeal D061287||nerve traumas glossopharyngeal D061287||neuropathies traumatic glossopharyngeal D061287||neuropathy traumatic glossopharyngeal D061287||ninth cranial nerve injuries D061287||ninth cranial nerve injury D061287||ninth nerve palsies traumatic D061287||ninth nerve palsy traumatic D061287||ninth nerve trauma D061287||ninth nerve traumas D061287||palsies traumatic ninth nerve D061287||palsy traumatic ninth nerve D061287||transection glossopharyngeal nerve D061287||transections glossopharyngeal nerve D061287||trauma glossopharyngeal nerve D061287||trauma ninth nerve D061287||traumas glossopharyngeal nerve D061287||traumas ninth nerve D061287||traumatic glossopharyngeal neuropathies D061287||traumatic glossopharyngeal neuropathy D061287||traumatic ninth nerve palsies D061287||traumatic ninth nerve palsy C564546|300273||goiter multinodular 2 C564546|300273||mng2 304700|C535808||mohr tranebjaerg syndrome 304700|C535808||ddp 304700|C535808||deafness dfn 1 dystonia mental deficiency and blindness 304700|C535808||deafness dystonia optic atrophy syndrome 304700|C535808||deafness dystonia optic neuronopathy syndrome 304700|C535808||deafness dystonia syndrome 304700|C535808||deafness syndrome progressive with blindness dystonia fractures and mental deficiency 304700|C535808||dystonia deafness syndrome 304700|C535808||mohr tranebj 230 rg syndrome 304700|C535808||mts D001651||cholestasis extrahepatic D001651||bile duct obstruction extrahepatic D001651||biliary stasis extrahepatic D001651||extrahepatic biliary stasis D001651||extrahepatic cholestasis D001650||bile duct neoplasms D001650||bile duct cancer D001650||bile duct cancers D001650||bile duct neoplasm D001650||cancer bile duct D001650||cancer of bile duct D001650||cancer of the bile duct D001650||cancers bile duct D001650||neoplasm bile duct D001650||neoplasms bile duct C567075|611536||major affective disorder 6 C567075|611536||mafd6 D012303||ring chromosomes D012303||chromosome ring D012303||chromosomes ring D012303||ring chromosome C567132||dibasic amino aciduria i C567131||dystonia with cerebellar atrophy D012301||rinderpest D012301||cattle plague D012301||plague cattle C567139||skin hair eye pigmentation variation in 6 C567139||shep6 C567139||skin hair eye pigmentation 6 blond brown hair C567139||skin hair eye pigmentation 6 blue green eyes D000334||aerophagy D000334||air swallowing D000334||swallowing air D061270||nasal septal perforation D061270||nasal septal perforations D061270||nasal septum perforation D061270||nasal septum perforations D061270||perforation nasal septal D061270||perforation nasal septum D061270||perforations nasal septal D061270||perforations nasal septum D061270||septal perforation nasal D061270||septal perforations nasal D061270||septum perforation nasal D061270||septum perforations nasal C567138||camptodactyly syndrome guadalajara type ii C567137||ciliary dyskinesia with transposition of ciliary microtubules D001660||biliary tract diseases D001660||biliary tract disease D001660||disease biliary tract D001660||diseases biliary tract D001660||tract disease biliary D001660||tract diseases biliary C538417|271150||spinal muscular atrophy 4 C538417|271150||sma4 C536426|303400||cleft palate x linked C536426|303400||cleft palate with or without ankyloglossia x linked C536426|303400||cpx C536426|303400||x linked cleft palate C580109||fragile x associated tremor ataxia syndrome D001661||biliary tract neoplasms D001661||biliary tract cancer D001661||biliary tract cancers D001661||biliary tract neoplasm D001661||cancer biliary tract D001661||cancer of biliary tract D001661||cancer of the biliary tract D001661||cancers biliary tract D001661||neoplasm biliary tract D001661||neoplasms biliary tract C580102||dysmyelinating leukodystrophy and spastic paraparesis C580102||spastic paraplegia 35 610551|D020803||encephalitis herpes simplex 610551|D020803||acute necrotizing encephalitis herpetic 610551|D020803||encephalitides herpes simplex 610551|D020803||encephalitides herpetic 610551|D020803||encephalitis herpes 610551|D020803||encephalitis herpetic 610551|D020803||encephalopathy acute infection induced susceptibility to 1 610551|D020803||encephalopathy acute infection induced susceptibility to 2 610551|D020803||herpes encephalitis 610551|D020803||herpes simplex encephalitides 610551|D020803||herpes simplex encephalitis 610551|D020803||herpes simplex encephalitis susceptibility to 1 610551|D020803||herpes simplex encephalitis susceptibility to 2 610551|D020803||herpes simplex meningoencephalitides 610551|D020803||herpes simplex meningoencephalitis 610551|D020803||herpetic acute necrotizing encephalitis 610551|D020803||herpetic encephalitides 610551|D020803||herpetic encephalitis 610551|D020803||herpetic meningoencephalitides 610551|D020803||herpetic meningoencephalitis 610551|D020803||iiae1 610551|D020803||iiae2 610551|D020803||meningoencephalitides herpes simplex 610551|D020803||meningoencephalitides herpetic 610551|D020803||meningoencephalitis herpes simplex 610551|D020803||meningoencephalitis herpes simplex virus 610551|D020803||meningoencephalitis herpetic D014973||xanthomatosis D014973||xanthoma D014973||xanthomas D014973||xanthomatoses D014972||xanthogranuloma juvenile D014972||juvenile xanthogranuloma D014972||juvenile xanthogranulomas D014972||juvenile xanthoma D014972||juvenile xanthomas D014972||nevoxanthoendothelioma D014972||nevoxanthoendotheliomas D014972||xanthogranulomas juvenile D014972||xanthoma juvenile D014972||xanthomas juvenile C567141||bardet biedl syndrome 14 D013641||tarsal tunnel syndrome D013641||entrapment neuropathy tarsal tunnel D013641||posterior tibial nerve neuralgia D013641||syndromes tarsal tunnel D013641||syndrome tarsal tunnel D013641||tarsal tunnel entrapment neuropathy D013641||tarsal tunnel syndromes D013641||tarsal tunnel tibial neuropathy D013641||tibial neuropathy tarsal tunnel D013641||tunnel syndromes tarsal D013641||tunnel syndrome tarsal C567140||bardet biedl syndrome 13 C567107||hypophosphatasia perinatal lethal D000303||adrenal cortex diseases D000303||adrenal cortex disease D000303||cortex disease adrenal D000303||cortex diseases adrenal D000303||disease adrenal cortex D000303||diseases adrenal cortex C567109||hypergonadotropic hypogonadism and partial alopecia C567108||hypogonadism and testicular atrophy D000308||adrenocortical hyperfunction D000308||adrenal gland hyperfunction D000308||hyperadrenalism D000308||hyperadrenocorticism D000308||hypercorticism D000308||hyperfunction adrenal gland D000308||hyperfunction adrenocortical D000307||adrenal gland diseases D000307||adrenal gland disease D000307||disease adrenal gland D000307||diseases adrenal gland D000307||gland disease adrenal D000307||gland diseases adrenal D000306||adrenal cortex neoplasms D000306||adrenal cortex cancer D000306||adrenal cortex cancers D000306||adrenal cortex neoplasm D000306||adrenocortical cancer D000306||adrenocortical cancers D000306||cancer adrenal cortex D000306||cancer adrenocortical D000306||cancer of adrenal cortex D000306||cancer of the adrenal cortex D000306||cancers adrenal cortex D000306||cancers adrenocortical D000306||neoplasm adrenal cortex D000306||neoplasms adrenal cortex D001630||bezoars D001630||ball hair D001630||balls hair D001630||bezoar D001630||hair ball D001630||hair balls D001630||trichobezoar D001630||trichobezoars D013613||tachycardia ectopic junctional D013613||ectopic junctional tachycardia D013613||ectopic junctional tachycardias D013613||ectopic tachycardia junctional D013613||ectopic tachycardias junctional D013613||junctional ectopic tachycardia D013613||junctional ectopic tachycardias D013613||junctional tachycardia ectopic D013613||junctional tachycardias ectopic D013613||tachycardia junctional ectopic D013613||tachycardias ectopic junctional D013613||tachycardias junctional ectopic D013614||tachycardia paroxysmal D013614||paroxysmal reciprocal tachycardia D013614||paroxysmal reciprocal tachycardias D013614||paroxysmal tachycardia D013614||paroxysmal tachycardias D013614||reciprocal tachycardia paroxysmal D013614||reciprocal tachycardias paroxysmal D013614||tachycardia paroxysmal reciprocal D013614||tachycardias paroxysmal D013614||tachycardias paroxysmal reciprocal D013611||tachycardia atrioventricular nodal reentry D013611||atrioventricular nodal reentrant tachycardia D013611||atrioventricular nodal reentry tachycardia D013611||av nodal reentrant tachycardia D013611||tachycardia av nodal reentrant D013612||tachycardia ectopic atrial D013612||atrial ectopic tachycardia D013612||atrial ectopic tachycardias D013612||atrial tachycardia ectopic D013612||atrial tachycardias ectopic D013612||ectopic atrial tachycardia D013612||ectopic atrial tachycardias D013612||ectopic tachycardia atrial D013612||ectopic tachycardias atrial D013612||tachycardia atrial ectopic D013612||tachycardias atrial ectopic D013612||tachycardias ectopic atrial D014949||wounds nonpenetrating D014949||blunt injuries D014949||blunt injury D014949||injuries blunt D014949||injuries nonpenetrating D014949||injury blunt D014949||injury nonpenetrating D014949||nonpenetrating injuries D014949||nonpenetrating injury D014949||nonpenetrating wound D014949||nonpenetrating wounds D014949||wound nonpenetrating D013617||tachycardia supraventricular D013617||supraventricular tachycardia D013617||supraventricular tachycardias D013617||tachycardias supraventricular D007877|608556||legionnaires apos disease D007877|608556||disease legionnaire D007877|608556||disease legionnaires apos D007877|608556||infection legionella pneumophila D007877|608556||infections legionella pneumophila D007877|608556||legionella pneumophila infection D007877|608556||legionella pneumophila infections D007877|608556||legionnaire disease D007877|608556||legionnaire disease susceptibility to D007877|608556||legionnaire apos s disease D007877|608556||legionnaires disease D007877|608556||pneumophila infection legionella D007877|608556||pneumophila infections legionella C536330|174050||polycystic liver disease C536330|174050||isolated autosomal dominant polycystic liver disease C536330|174050||isolated polycystic liver disease C536330|174050||pcld D014948||wounds gunshot D014948||gunshot wound D014948||gunshot wounds D014948||wound gunshot D014947||wounds and injuries D014947||injuries D014947||injuries and wounds D014947||injuries wounds D014947||injury D014947||injury and wounds D014947||trauma D014947||traumas D014947||wound D014947||wounds D014947||wounds and injury D014947||wounds injury D013615||tachycardia sinoatrial nodal reentry D013615||sinoatrial nodal reentry tachycardia D013615||sinus node reentrant tachycardia D013615||tachycardia sa nodal reentrant D014946||wound infection D014946||infections wound D014946||infection wound D014946||wound infections D013616||tachycardia sinus D013616||sinus tachycardia D013616||sinus tachycardias D013616||tachycardias sinus C565836|603896||vanishing white matter leukodystrophy with ovarian failure C565836|603896||cach C565836|603896||cree leukoencephalopathy cle vanishing white matter leukodystrophy with ovarian failure included C565836|603896||ovarioleukodystrophy C565836|603896||ovarioleukodystrophy included C565836|603896||vwm D000309||adrenal insufficiency D000309||adrenal gland hypofunction D000309||adrenal insufficiencies D000309||hypoadrenalism D000309||hypofunction adrenal gland 208230|C535387||arthropathy progressive pseudorheumatoid of childhood 208230|C535387||ppac 208230|C535387||ppd 208230|C535387||progressive pseudorheumatoid arthropathy of childhood 208230|C535387||progressive pseudorheumatoid dysplasia 208230|C535387||sedt pa 208230|C535387||spondyloepiphyseal dysplasia tarda with progressive arthropathy C566672|182980||spinal muscular atrophy proximal adult autosomal dominant C566672|182980||smafk D013610||tachycardia D013610||tachyarrhythmia D013610||tachyarrhythmias D013610||tachycardias D000012|200100||abetalipoproteinemia D000012|200100||abl D000012|200100||acanthocytoses D000012|200100||acanthocytosis D000012|200100||bassen kornzweig disease D000012|200100||bassen kornzweig syndrome D000012|200100||betalipoprotein deficiency disease D000012|200100||betalipoprotein deficiency diseases D000012|200100||deficiency disease betalipoprotein D000012|200100||deficiency diseases betalipoprotein D000012|200100||disease betalipoprotein deficiency D000012|200100||diseases betalipoprotein deficiency D000012|200100||microsomal triglyceride transfer protein deficiency D000012|200100||microsomal triglyceride transfer protein deficiency disease D000012|200100||mtp deficiency D000314||adrenal rest tumor D000314||adrenal cortical rest tumor D000314||adrenal rest tumors D000314||rest tumor adrenal D000314||rest tumors adrenal D000314||tumor adrenal rest D000314||tumors adrenal rest D000312||adrenal hyperplasia congenital D000312||adrenal hyperplasias congenital D000312||congenital adrenal hyperplasia D000312||congenital adrenal hyperplasias D000312||hyperplasia congenital adrenal D000312||hyperplasias congenital adrenal C567119||skin hair eye pigmentation variation in 5 C567119||shep5 C567119||skin hair eye pigmentation 5 black nonblack hair C567119||skin hair eye pigmentation 5 dark fair skin C567119||skin hair eye pigmentation 5 dark light eyes D001649||bile duct diseases D001649||bile duct disease D001649||disease bile duct D001649||diseases bile duct D001649||duct disease bile D001649||duct diseases bile C567116||kininogen deficiency high molecular weight and low molecular weight C564106|309545||mental retardation x linked syndromic 12 C564106|309545||mrxs12 D002971||cleft lip D002971||cleft lips D002971||harelip D002971||harelips D002971||lip cleft D002971||lips cleft C564682|606668||inflammatory bowel disease 8 C564682|606668||ibd8 D002972||cleft palates D002972||palate cleft D002972||palates cleft C564794|271665||spondylometaepiphyseal dysplasia short limb hand type C564794|271665||smed short limb abnormal calcification type C564794|271665||smed short limb hand type C564794|271665||smed sl C564794|271665||smed sl ac C564794|271665||smed type ii C564794|271665||spondylometaepiphyseal dysplasia short limb abnormal calcification type D000310||adrenal gland neoplasms D000310||adrenal cancer D000310||adrenal cancers D000310||adrenal gland cancer D000310||adrenal gland cancers D000310||adrenal gland neoplasm D000310||adrenal neoplasm D000310||adrenal neoplasms D000310||cancer adrenal D000310||cancer adrenal gland D000310||cancer of the adrenal gland D000310||cancers adrenal D000310||cancers adrenal gland D000310||neoplasm adrenal D000310||neoplasm adrenal gland D000310||neoplasms adrenal D000310||neoplasms adrenal gland D038901||mental retardation x linked D038901||retardation x linked mental D038901||x linked mental retardation D038901||x linked mental retardation disorders D038901||x linked mental retardations D038901||x linked mental retardation syndromes D013625||takayasu arteritis D013625||aortitis syndrome D013625||arteritides young female D013625||arteritis takayasu D013625||arteritis takayasus D013625||arteritis takayasu apos s D013625||arteritis young female D013625||disease takayasu D013625||female arteritides young D013625||female arteritis young D013625||pulseless disease D013625||syndrome aortitis D013625||takayasu disease D013625||takayasu apos s arteritis D013625||takayasus arteritis D013625||takayasu syndrome D013625||young female arteritides D013625||young female arteritis D014954||wrist injuries D014954||injuries wrist D014954||injury wrist D014954||wrist injury D013622||taeniasis D013622||infections taenia D013622||infection taenia D013622||taenia infection D013622||taenia infections D013622||taeniases C537425|229100||glutamate formiminotransferase deficiency C537425|229100||arakawa syndrome 1 C537425|229100||figlu uria C537425|229100||formiminoglutamic aciduria C537425|229100||formiminoglutamicaciduria figlu uria C537425|229100||formiminotransferase deficiency C537425|229100||formiminotransferase deficiency syndrome C567121||epidermolysis bullosa dystrophica autosomal recessive localisata variant C567122||epidermolysis bullosa dystrophica inversa autosomal recessive C566899|611638||microphthalmia isolated with coloboma 5 C566899|611638||mcopcb5 D014951||wounds stab D014951||stab wound D014951||stab wounds D014951||wound stab D014950||wounds penetrating D014950||penetrating wound D014950||penetrating wounds D014950||wound penetrating 248370|C535705||mandibuloacral dysplasia with type a lipodystrophy 248370|C535705||craniomandibular dermatodysostosis 248370|C535705||craniomandibular dermatodysostosis mandibuloacral dysplasia with type a lipodystrophy atypical included 248370|C535705||lipodystrophy type a associated with mandibuloacral dysplasia 248370|C535705||mada 248370|C535705||mandibuloacral dysplasia with type a lipodystrophy atypical C563687|609918||gallbladder disease 2 C563687|609918||gbd2 C537854|164100||nystagmus 2 congenital autosomal dominant C537854|164100||nys2 C537854|164100||nystagmus congenital motor 2 C537871|245590||laron syndrome type 2 C537871|245590||growth hormone insensitivity due to postreceptor defect C537871|245590||growth hormone insensitivity with immunodeficiency C537871|245590||laron syndrome due to postreceptor defect C537871|245590||laron type dwarfism 2 601308||myeloid tumor suppressor 601308||mlrl 601308||myeloid leukemia related locus C563919|608520||major depressive disorder 1 C563919|608520||mdd1 C563919|608520||unipolar depression 1 C535866|300258||roifman syndrome C535866|300258||spondyloepiphseal dysplasia retinal dystrophy and antibody deficiency C535866|300258||spondyloepiphyseal dysplasia retinal dystrophy and antibody deficiency D002051|113970||burkitt lymphoma D002051|113970||african lymphoma D002051|113970||bl D002051|113970||burkitt cell leukemia D002051|113970||burkitt leukemia D002051|113970||burkitt apos s leukemia D002051|113970||burkitts leukemia D002051|113970||burkitt apos s lymphoma D002051|113970||burkitts lymphoma D002051|113970||burkitt apos s tumor D002051|113970||burkitts tumor D002051|113970||burkitt tumor D002051|113970||cell leukemia burkitt D002051|113970||l3 lymphocytic leukemia D002051|113970||l3 lymphocytic leukemias D002051|113970||leukemia burkitt D002051|113970||leukemia burkitt cell D002051|113970||leukemia burkitt apos s D002051|113970||leukemia l3 lymphocytic D002051|113970||leukemia lymphoblastic burkitt type D002051|113970||leukemia lymphocytic l3 D002051|113970||leukemias l3 lymphocytic D002051|113970||lymphocytic leukemia l3 D002051|113970||lymphocytic leukemias l3 D002051|113970||lymphoma african D002051|113970||lymphoma burkitt D002051|113970||lymphoma burkitt apos s D002051|113970||tumor burkitt D002051|113970||tumor burkitt apos s C562460|612759||synesthesia C562460|612759||synsth D014924||wissler apos s syndrome D014924||subsepsis allergica D014924||subsepsis hyperergica D014924||syndrome wissler fanconi D014924||syndrome wissler apos s D014924||wissler fanconi syndrome D014924||wisslers syndrome D014924||wissler syndrome 143200|C536075||hyaloideoretinal degeneration of wagner 143200|C536075||erosive vitreoretinopathy 143200|C536075||ervr 143200|C536075||vcan related vitreoretinopathy 143200|C536075||wagner disease 143200|C536075||wagner syndrome 143200|C536075||wagner syndrome 1 143200|C536075||wagner syndrome type 1 143200|C536075||wagner vitreoretinal degeneration 143200|C536075||wagner vitreoretinopathy 143200|C536075||wgn1 143200|C536075||wgvrp D058502|313850||pentalogy of cantrell D058502|313850||cantrell haller ravitch syndrome D058502|313850||cantrell pentalogy D058502|313850||cantrell apos s pentalogy D058502|313850||cantrells pentalogy D058502|313850||pentalogy cantrell D058502|313850||pentalogy cantrell apos s D058502|313850||pentalogy of cantrell included D058502|313850||tas midline defects x linked included D058502|313850||thas D058502|313850||thoracoabdominal syndrome D058502|313850||thoracoabdominal syndromes 202110|C538237||adrenal hyperplasia congenital type 5 202110|C538237||17 alpha hydroxylase 17 20 lyase deficiency combined complete included 202110|C538237||17 alpha hydroxylase 17 20 lyase deficiency combined partial included 202110|C538237||17 alpha hydroxylase deficiency 202110|C538237||17 alpha hydroxylase deficiency 17 20 lyase deficiency isolated included 202110|C538237||adrenal hyperplasia congenital due to 17 alpha hydroxylase deficiency 202110|C538237||adrenal hyperplasia v D013606||tabes dorsalis D013606||ataxia locomotor D013606||ataxias locomotor D013606||locomotor ataxia D013606||locomotor ataxias D013606||meningomyelitides syphilitic D013606||meningomyelitis syphilitic D013606||meningovascular syphilis spinal D013606||myelosyphilis D013606||neurosyphilis tabetic D013606||spinal cord syphilis D013606||spinalis tabes D013606||spinal meningovascular syphilis D013606||syphilis spinal cord D013606||syphilis spinal meningovascular D013606||syphilitic meningomyelitides D013606||syphilitic meningomyelitis D013606||tabes spinalis D013606||tabetic neurosyphilis 611147|C567001||paroxysmal nonkinesigenic dyskinesia 2 611147|C567001||dystonia 20 611147|C567001||dyt20 611147|C567001||pnkd2 D005922|161950||glomerulonephritis iga D005922|161950||berger disease D005922|161950||berger apos s disease D005922|161950||bergers disease D005922|161950||glomerulonephritides iga D005922|161950||iga glomerulonephritis D005922|161950||igan D005922|161950||igan1 D005922|161950||igan2 D005922|161950||iga nephropathy D005922|161950||iga nephropathy 1 D005922|161950||iga nephropathy susceptibility to 1 D005922|161950||iga nephropathy susceptibility to 2 D005922|161950||iga type nephritis D005922|161950||immunoglobulin a nephropathy D005922|161950||nephritis iga type D005922|161950||nephropathy 1 iga D005922|161950||nephropathy iga D005922|161950||nephropathy immunoglobulin a D002925||ciliary motility disorders D002925||ciliary dyskinesia D002925||ciliary dyskinesias D002925||ciliary motility disorder D002925||cilia syndrome immotile D002925||cilia syndromes immotile D002925||disorder ciliary motility D002925||disorders ciliary motility D002925||dyskinesia ciliary D002925||dyskinesias ciliary D002925||immotile cilia syndromes D002925||syndrome immotile cilia D002925||syndromes immotile cilia D017188||adenophorea infections D017188||adenophorea infection D017188||aphasmidia infection D017188||aphasmidia infections D017188||infection adenophorea D017188||infection aphasmidia D017188||infections adenophorea D017188||infections aphasmidia D002921||cicatrix D002921||cicatrization D002921||scar D002921||scarring D002921||scars 300518|C564496||mental retardation x linked 82 300518|C564496||mrx82 D017180||tachycardia ventricular D017180||tachycardias ventricular D017180||ventricular tachycardia D017180||ventricular tachycardias D042101||acalculous cholecystitis D042101||acalculous gallbladder inflammation D042101||cholecystitis acalculous D042101||gallbladder inflammation acalculous 606054|D056693||propionic acidemia 606054|D056693||acidemia propionic 606054|D056693||acidemia propionics 606054|D056693||acidemias propionic 606054|D056693||aciduria propionic 606054|D056693||acidurias propionic 606054|D056693||carboxylase deficiencies propionyl coa 606054|D056693||carboxylase deficiency propionyl coa 606054|D056693||deficiencies pcc 606054|D056693||deficiencies propionyl coa carboxylase 606054|D056693||deficiency pcc 606054|D056693||deficiency propionyl coa carboxylase 606054|D056693||glycinemia ketotic 606054|D056693||glycinemias ketotic 606054|D056693||hyperglycinemia ketotic 606054|D056693||hyperglycinemias ketotic 606054|D056693||hyperglycinemia with ketoacidosis and leukopenia 606054|D056693||ketotic glycinemia 606054|D056693||ketotic glycinemias 606054|D056693||ketotic hyperglycinemia 606054|D056693||ketotic hyperglycinemias 606054|D056693||pcc deficiencies 606054|D056693||pcc deficiency 606054|D056693||propionicacidemia 606054|D056693||propionicacidemias 606054|D056693||propionic acidemias 606054|D056693||propionicaciduria 606054|D056693||propionic aciduria 606054|D056693||propionicacidurias 606054|D056693||propionic acidurias 606054|D056693||propionics acidemia 606054|D056693||propionyl coa carboxylase deficiencies 606054|D056693||propionyl coa carboxylase deficiency C567433|612020||spastic paraplegia 39 autosomal recessive C567433|612020||ntemnd C567433|612020||nte related motor neuron disorder C567433|612020||spg39 C564523|300378||radial ray deficiency x linked C564523|300378||rrdx D001602||beriberi D017196||rhabditida infections D017196||infection rhabditida D017196||infections rhabditida D017196||rhabditida infection 603933||microvascular complications of diabetes susceptibility to 1 603933||end stage renal disease diabetic susceptibility to included 603933||microvascular complications of diabetes protection against included 603933||mvcd1 603933||nephropathy diabetic susceptibility to included 603933||neuropathy diabetic susceptibility to included 603933||nonproliferative retinopathy diabetic susceptibility to included 603933||nonproliferative retinopathy diabetic susceptibility to microvascular complications of diabetes susceptibility to included 603933||proliferative retinopathy diabetic susceptibility to included C535742|601110||congenital disorder of glycosylation type 1d C535742|601110||carbohydrate deficient glycoprotein syndrome type 4 C535742|601110||carbohydrate deficient glycoprotein syndrome type iv formerly C535742|601110||cdg1d C535742|601110||cdgid C535742|601110||cdg id C535742|601110||cdgs4 formerly C535742|601110||cdgs type iv formerly C535742|601110||congenital disorder of glycosylation type id D017192||skin diseases bacterial D017192||bacterial skin disease D017192||bacterial skin diseases D017192||disease bacterial skin D017192||diseases bacterial skin D017192||skin disease bacterial D017193||skin diseases viral D017193||diseases viral skin D017193||disease viral skin D017193||skin disease viral D017193||viral skin disease D017193||viral skin diseases D017194||oxyurida infections D017194||infection oxyurida D017194||infections oxyurida D017194||oxyurida infection D015799|258870||gyrate atrophy D015799|258870||atrophy gyrate D015799|258870||deficiency oat D015799|258870||deficiency okt D015799|258870||deficiency ornithine aminotransferase D015799|258870||deficiency ornithine delta aminotransferase D015799|258870||gacr D015799|258870||gyrate atrophy of choroid and retina D015799|258870||gyrate atrophy of the choroid and retina D015799|258870||hoga D015799|258870||hyperornithinemia with gyrate atrophy of choroid and retina D015799|258870||oat deficiency D015799|258870||okt deficiency D015799|258870||ornithine aminotransferase deficiency D015799|258870||ornithine delta aminotransferase deficiency D015799|258870||ornithine ketoacid aminotransferase deficiency D015799|258870||ornithine keto acid aminotransferase deficiency D015799|258870||ornithinemia with gyrate atrophy 605388|C562856||cerebral palsy ataxic autosomal recessive 605388|C562856||acp 605388|C562856||ataxic cerebral palsy D017190||secernentea infections D017190||infection phasmidia D017190||infection secernentea D017190||infections phasmidia D017190||infections secernentea D017190||phasmidia infection D017190||phasmidia infections D017190||secernentea infection D017191||ascaridida infections D017191||ascaridida infection D017191||infection ascaridida D017191||infections ascaridida D014917||whooping cough D014917||bordetella pertussis infection respiratory D014917||cough whooping D014917||pertusses D014917||pertussis 239100|D010009||osteochondrodysplasias 239100|D010009||buchem diseases van 239100|D010009||buchem disease van 239100|D010009||chondrodystrophic myotonias 239100|D010009||chondrodystrophies myotonic 239100|D010009||chondrodystrophy myotonic 239100|D010009||diseases van buchem 239100|D010009||disease van buchem 239100|D010009||dyschondroplasias 239100|D010009||dysplasia multiple epiphyseal 239100|D010009||dysplasias multiple epiphyseal 239100|D010009||dysplasia spondyloepiphyseal 239100|D010009||dysplasias spondyloepiphyseal 239100|D010009||endosteal hyperostosis autosomal recessive 239100|D010009||epiphyseal dysplasia multiple 239100|D010009||epiphyseal dysplasias multiple 239100|D010009||hyperostosis corticalis generalisata 239100|D010009||hyperphosphatasemia tarda 239100|D010009||hyperphosphatasemia tardas 239100|D010009||late onset spondyloepiphyseal dysplasia 239100|D010009||melnick needles osteodysplasty 239100|D010009||melnick needles syndrome 239100|D010009||mns 239100|D010009||multiple epiphyseal dysplasia 239100|D010009||multiple epiphyseal dysplasias 239100|D010009||myotonia chondrodystrophic 239100|D010009||myotonias chondrodystrophic 239100|D010009||myotonic chondrodystrophies 239100|D010009||myotonic chondrodystrophy 239100|D010009||osteochondrodysplasia 239100|D010009||osteodysplasty melnick needles 239100|D010009||osteodysplasty of melnick and needles 239100|D010009||schwartz jampel syndrome 239100|D010009||sed tarda 239100|D010009||sja syndromes 239100|D010009||sjs1 239100|D010009||sost related sclerosing bone dysplasia 239100|D010009||sost sclerosing bone dysplasia 239100|D010009||spondylo epimetaphyseal dysplasia with myotonia 239100|D010009||spondyloepiphyseal dysplasia 239100|D010009||spondyloepiphyseal dysplasias 239100|D010009||syndrome melnick needles 239100|D010009||syndrome schwartz jampel 239100|D010009||syndrome schwartz jampel aberfeld 239100|D010009||syndrome sja 239100|D010009||syndromes sja 239100|D010009||van buchem disease 239100|D010009||van buchem diseases 239100|D010009||vbch 239100|D010009||x linked sed 239100|D010009||x linked sedt 239100|D010009||x linked spondyloepiphyseal dysplasia tarda D014912||white muscle disease D014912||diseases white muscle D014912||disease white muscle D014912||muscle diseases white D014912||muscle disease white D014912||white muscle diseases D014911||whiplash injuries D014911||injuries whiplash D014911||injury whiplash D014911||whiplash injury C563433|600883||diabetes mellitus insulin dependent 8 C563433|600883||iddm8 C563433|600883||insulin dependent diabetes mellitus 8 D001607||berylliosis D001607||beryllioses D001607||beryllium disease 612541|C567260||neutropenia severe congenital autosomal recessive 4 612541|C567260||dursun syndrome included 612541|C567260||neutropenia severe congenital 4 autosomal recessive 612541|C567260||pulmonary arterial hypertension leukopenia and atrial septal defect included 612541|C567260||scn4 D017189||enoplida infections D017189||dioctophyma renale infection D017189||dioctophyma renale infections D017189||enoplida infection D017189||infection dioctophyma renale D017189||infection enoplida D017189||infections dioctophyma renale D017189||infections enoplida 606391|C562772||mason type diabetes 606391|C562772||maturity onset diabetes of the young D017285||polymyositis D017285||idiopathic polymyositides D017285||idiopathic polymyositis D017285||multiple myositis D017285||myositides multiple D017285||myositis multiple D017285||ossificans polymyositis D017285||polymyositides D017285||polymyositides idiopathic D017285||polymyositis idiopathic D017285||polymyositis ossificans 613290||hearing loss cisplatin induced susceptibility to 613290||cihl 194072|D017624||wagr syndrome 194072|D017624||11p partial monosomy syndrome 194072|D017624||chromosome 11p13 deletion syndrome 194072|D017624||complex wagr 194072|D017624||contiguous gene syndrome wagr 194072|D017624||syndrome wagr 194072|D017624||wagr 194072|D017624||wagr complex 194072|D017624||wagr complices 194072|D017624||wagr contiguous gene syndrome 194072|D017624||wagr syndromes 194072|D017624||wilms tumor aniridia genital anomalies retardation syndrome 194072|D017624||wilms tumor aniridia genitourinary anomalies and mental retardation syndrome 194072|D017624||wilms tumor aniridia genitourinary anomalies mental retardation syndrome 194072|D017624||wilms tumor aniridia genitourinary anomalies mr syndrome 194072|D017624||wilms tumor aniridia gonadoblastoma mental retardation syndrome D017282||tick borne diseases D017282||diseases tick borne D017282||disease tick borne D017282||infections tick borne D017282||infection tick borne D017282||tick borne disease D017282||tick borne infection D017282||tick borne infections C564969|255320||minicore myopathy with external ophthalmoplegia C564969|255320||minicore disease C564969|255320||minicore myopathy C564969|255320||multicore disease C564969|255320||multicore myopathy C564969|255320||multicore myopathy with external ophthalmoplegia C564969|255320||multiminicore disease C564969|255320||multi minicore disease C564969|255320||multiminicore disease with external ophthalmoplegia C564969|255320||multiminicore myopathy C564969|255320||multiminicore myopathy multicore myopathy with external ophthalmoplegia C537203|609306||spinocerebellar ataxia 26 C537203|609306||sca26 C537203|609306||spinocerebellar ataxia type 26 D054222||cobblestone lissencephaly D054222||cobblestone complex D054222||cobblestone dysplasia D054222||cobblestone dysplasias D054222||cobblestone lissencephalies D054222||dysplasia cobblestone D054222||dysplasias cobblestone D054222||lissencephalies cobblestone D054222||lissencephaly cobblestone D054222||lissencephaly type 2 D054220||malformations of cortical development D054220||cerebral cortical dysplasia D054220||cerebral cortical dysplasias D054220||cortical development malformation D054220||cortical development malformations D054220||cortical dysplasia D054220||cortical dysplasia cerebral D054220||cortical dysplasias D054220||cortical dysplasias cerebral D054220||development malformation cortical D054220||development malformations cortical D054220||dysplasia cerebral cortical D054220||dysplasia cortical D054220||dysplasias cerebral cortical D054220||dysplasias cortical D054220||hemimegalencephalies D054220||hemimegalencephaly D054220||malformations of cerebral cortex development D054220||polymicrogyria D054220||polymicrogyrias D054220||schizencephalies D056886||contrecoup injury D056886||contre coup injuries D056886||contrecoup injuries D056886||contre coup injury D056886||injuries contrecoup D056886||injuries contre coup D056886||injury contrecoup D056886||injury contre coup 122700|C563039||coumarin resistance 122700|C563039||coumarin poor metabolism of 122700|C563039||warfarin resistance 122700|C563039||warfarin resistance coumarin sensitivity included 122700|C563039||warfarin sensitivity included C536058|259730||osteopetrosis with renal tubular acidosis C536058|259730||carbonic anhydrase 2 deficiency C536058|259730||carbonic anhydrase ii deficiency C536058|259730||guibaud vainsel syndrome C536058|259730||marble brain disease C536058|259730||optb3 C536058|259730||osteopetrosis autosomal recessive 3 613285||deafness autosomal recessive 25 613285||dfnb25 D011371|176670||progeria D011371|176670||hgps D011371|176670||hutchinson gilford progeria syndrome D011371|176670||hutchinson gilford progeria syndromes D011371|176670||hutchinson gilford syndrome D011371|176670||progeria progeria syndrome childhood onset included D011371|176670||progeria syndrome hutchinson gilford D011371|176670||progeria syndromes hutchinson gilford 137100|C536290||immunoglobulin a deficiency 1 137100|C536290||gamma a globulin selective deficiency of 137100|C536290||igad1 137100|C536290||iga selective deficiency of 137100|C536290||immunoglobulin a selective deficiency of C536335|174810||polyostotic osteolytic dysplasia hereditary expansile C536335|174810||eof C536335|174810||expansile osteolysis familial C536335|174810||familial expansile osteolysis C536335|174810||feo C536335|174810||hepod C536335|174810||mccabe disease C536335|174810||osteolysis familial expansile C565720|611755||leber congenital amaurosis 10 C565720|611755||lca10 D007965|245200||leukodystrophy globoid cell D007965|245200||beta galactosidase deficiencies galactosylceramide D007965|245200||beta galactosidase deficiency galactosylceramide D007965|245200||cell leukodystrophies globoid D007965|245200||cell leukodystrophy globoid D007965|245200||cell leukoencephalopathies globoid D007965|245200||cell leukoencephalopathy globoid D007965|245200||classic globoid cell leukodystrophy D007965|245200||deficiencies galactocerebrosidase D007965|245200||deficiencies galactosylceramide beta galactosidase D007965|245200||deficiencies galc D007965|245200||deficiency disease galactosylceramidase D007965|245200||deficiency disease galactosylceramide beta galactosidase D007965|245200||deficiency diseases galactosylceramidase D007965|245200||deficiency diseases galactosylceramide beta galactosidase D007965|245200||deficiency galactocerebrosidase D007965|245200||deficiency galactosylceramide beta galactosidase D007965|245200||deficiency galc D007965|245200||diffuse globoid body sclerosis D007965|245200||disease galactosylceramidase deficiency D007965|245200||disease galactosylceramide beta galactosidase deficiency D007965|245200||diseases galactosylceramidase deficiency D007965|245200||diseases galactosylceramide beta galactosidase deficiency D007965|245200||early onset globoid cell leukodystrophy D007965|245200||galactocerebrosidase deficiencies D007965|245200||galactocerebrosidase deficiency D007965|245200||galactosylceramidase deficiency disease D007965|245200||galactosylceramidase deficiency diseases D007965|245200||galactosylceramide beta galactosidase deficiencies D007965|245200||galactosylceramide beta galactosidase deficiency D007965|245200||galactosylceramide beta galactosidase deficiency disease D007965|245200||galactosylceramide beta galactosidase deficiency diseases D007965|245200||galactosylceramide lipidosis D007965|245200||galactosylcerebrosidase deficiency D007965|245200||galactosylsphingosine lipidosis D007965|245200||galc deficiencies D007965|245200||galc deficiency D007965|245200||gcl D007965|245200||gld D007965|245200||globoid body sclerosis diffuse D007965|245200||globoid cell leukodystrophies D007965|245200||globoid cell leukodystrophy D007965|245200||globoid cell leukoencephalopathies D007965|245200||globoid cell leukoencephalopathy D007965|245200||globoid leukodystrophies D007965|245200||globoid leukodystrophy D007965|245200||infantile globoid cell leukodystrophy D007965|245200||krabbe disease D007965|245200||krabbe leukodystrophy D007965|245200||krabbe apos s disease D007965|245200||krabbes disease D007965|245200||krabbe apos s leukodystrophy D007965|245200||krabbes leukodystrophy D007965|245200||late onset globoid cell leukodystrophy D007965|245200||leukodystrophies globoid D007965|245200||leukodystrophies globoid cell D007965|245200||leukodystrophy globoid D007965|245200||leukodystrophy globoid cell classic D007965|245200||leukodystrophy globoid cell early onset D007965|245200||leukodystrophy globoid cell infantile D007965|245200||leukodystrophy globoid cell late onset D007965|245200||leukodystrophy krabbe D007965|245200||leukodystrophy krabbe apos s D007965|245200||leukoencephalopathies globoid cell D007965|245200||leukoencephalopathy globoid cell D007965|245200||psychosine lipidosis C562590|610651||xeroderma pigmentosum complementation group b C562590|610651||xeroderma pigmentosum group b C562590|610651||xpb C562590|610651||xpb cs included C562590|610651||xp group b xpbc xeroderma pigmentosum b cockayne syndrome included C571911||gastrointestinal anthrax D030243||hemorrhagic syndrome bovine D030243||bovine hemorrhagic syndrome C571912||inhalation anthrax 612540|C567261||myopathy congenital compton north D054243||vesicular stomatitis D054243||stomatitides vesicular D054243||stomatitis vesicular D054243||vesicular stomatitides C564708|606438||huntington disease like 2 C564708|606438||hdl2 253220|D016538||mucopolysaccharidosis vii 253220|D016538||beta glucuronidase deficiencies 253220|D016538||beta glucuronidase deficiency 253220|D016538||deficiencies beta glucuronidase 253220|D016538||deficiencies gusb 253220|D016538||deficiency beta glucuronidase 253220|D016538||deficiency gusb 253220|D016538||disease sly 253220|D016538||gusb deficiencies 253220|D016538||gusb deficiency 253220|D016538||mps7 253220|D016538||mps vii 253220|D016538||mucopolysaccharidosis 7 253220|D016538||mucopolysaccharidosis type vii 253220|D016538||mucopolysaccharidosis type viis 253220|D016538||mucopolysaccharidosis viis 253220|D016538||sly disease 253220|D016538||sly syndrome 253220|D016538||syndrome sly 253220|D016538||type vii mucopolysaccharidosis 253220|D016538||type viis mucopolysaccharidosis 253220|D016538||viis mucopolysaccharidosis 271245||mitochondrial dna depletion syndrome 7 hepatocerebral type 271245||iosca 271245||mtdps7 271245||sca8 formerly 271245||spinocerebellar ataxia 8 formerly 271245||spinocerebellar ataxia infantile onset D018589||gastroparesis D018589||gastric stases D018589||gastric stasis D018589||gastropareses D018589||stases gastric D018589||stasis gastric 180300|D001172||arthritis rheumatoid 180300|D001172||ra 180300|D001172||rheumatoid arthritis 180300|D001172||rheumatoid arthritis susceptibility to C566909|611597||cataract autosomal dominant multiple types 1 C566909|611597||cataract 12 multiple types C566909|611597||ctrct12 D000795|301500||fabry disease D000795|301500||alpha galactosidase a deficiency D000795|301500||alpha galactosidase a deficiency disease D000795|301500||anderson fabry disease D000795|301500||angiokeratoma corporis diffusum D000795|301500||angiokeratoma diffuse D000795|301500||ceramide trihexosidase deficiency D000795|301500||ceramide trihexosidase deficiency fabry disease cardiac variant included D000795|301500||deficiency alpha galactosidase a D000795|301500||deficiency ceramide trihexosidase D000795|301500||deficiency gla D000795|301500||diffuse angiokeratoma D000795|301500||fabry apos s disease D000795|301500||gla deficiency D000795|301500||hereditary dystopic lipidosis D000795|301500||lipidosis hereditary dystopic D017271||craniomandibular disorders D017271||craniomandibular disease D017271||craniomandibular diseases D017271||craniomandibular disorder D017271||disease craniomandibular D017271||diseases craniomandibular D017271||disorder craniomandibular D017271||disorders craniomandibular C537423|257550||apraxia oculomotor cogan type C537423|257550||cogan apos s syndrome type 2 C537423|257550||congenital oculomotor apraxia C537423|257550||ocular motor apraxia C537423|257550||oculomotor apraxia cogan type C537423|257550||saccade initiation failure congenital C567213|612645||deafness autosomal recessive 1b C567213|612645||dfnb1b D000741|609135||anemia aplastic D000741|609135||anemia hypoplastic D000741|609135||anemias aplastic D000741|609135||anemias hypoplastic D000741|609135||aplastic anemia D000741|609135||aplastic anemias D000741|609135||aplastic anemia susceptibility to included D000741|609135||hypoplastic anemia D000741|609135||hypoplastic anemias C565231|606394||mody type 6 C565231|606394||maturity onset diabetes of the young type 6 C565231|606394||mody6 D055589||pancreatitis graft D055589||graft pancreatitis C563485||osteomas of mandible C563484||osteopoikilosis isolated C563483||osteosclerosis with ichthyosis and fractures C563483||cortical thickening of long bones with bowing and ichthyosis D017243||merrf syndrome D017243||fukuhara disease D017243||fukuhara syndrome D017243||merrf D017243||myoclonic epilepsy and ragged red fibers D017243||myoclonic epilepsy associated with ragged red fibers D017243||myoclonic epilepsy with ragged red fibers D017243||myoclonus with epilepsy with ragged red fibers D017243||myoencephalopathy ragged red fiber disease D017243||syndrome fukuhara D017243||syndrome merrf 146200|C537156||hypoparathyroidism familial isolated 146200|C537156||fih 146200|C537156||hypoparathyroidism autosomal dominant hypoparathyroidism autosomal recessive included C563488||ossified ear cartilages C563487||osteogenesis imperfecta with opalescent teeth blue sclerae and wormian bones but without fractures C537190||ruvalcaba churesigaew myhre syndrome D005258||felty syndrome D005258||familial felty apos s syndrome D005258||familial feltys syndrome D005258||familial felty syndrome D005258||felty apos s syndrome D005258||feltys syndrome D005258||felty apos s syndrome familial D005258||felty syndrome familial D005258||rheumatoid arthritis splenomegaly and neutropenia D005258||syndrome familial felty D005258||syndrome familial felty apos s D005258||syndrome felty D005258||syndrome felty apos s D004437|224700||ebstein anomaly D004437|224700||anomaly ebstein D004437|224700||anomaly ebstein apos s D004437|224700||ebstein malformation D004437|224700||ebstein apos s anomaly D004437|224700||ebsteins anomaly D004437|224700||ebstein apos s anomaly familial D004437|224700||ebstein apos s malformation D004437|224700||ebsteins malformation D004437|224700||familial ebstein anomaly D004437|224700||familial ebstein apos s anomaly D004437|224700||familial ebsteins anomaly D004437|224700||malformation ebstein apos s D020896||hypovolemia D020896||hypovolemias D020896||hypovolemic D020896||hypovolemics D005254||feline panleukopenia D005254||agranulocytoses feline D005254||agranulocytosis feline D005254||ataxia feline D005254||ataxias feline D005254||cat plague D005254||cat plagues D005254||distemper feline D005254||distempers feline D005254||enteritides feline infectious D005254||enteritis feline infectious D005254||feline agranulocytoses D005254||feline agranulocytosis D005254||feline ataxia D005254||feline ataxias D005254||feline distemper D005254||feline distempers D005254||feline infectious enteritides D005254||feline infectious enteritis D005254||feline panleukopenias D005254||fever show D005254||fevers show D005254||infectious enteritides feline D005254||infectious enteritis feline D005254||panleukopenia feline D005254||panleukopenias feline D005254||plague cat D005254||plagues cat D005254||show fever D005254||show fevers C537192||ruzicka goerz anton syndrome C537192||ichthyosis deafness mental retardation skeletal anomalies C537193||saal bulas syndrome C537193||ectrodactyly diaphragmatic hernia congenital heart defect and agenesis of the corpus callosum D005262||feminization D005262||feminizations D005261||female urogenital diseases and pregnancy complications D005264||femoral fractures D005264||femoral fracture D005264||fracture femoral D005264||fractures femoral D017237||mitochondrial encephalomyopathies D017237||encephalomyopathies mitochondrial D017237||encephalomyopathy mitochondrial D017237||mitochondrial encephalomyopathy C563493||optic nerve aplasia bilateral D004062|188400||digeorge syndrome D004062|188400||22q11 2 deletion syndrome D004062|188400||22q11 2ds D004062|188400||autosomal dominant opitz g bbb syndrome D004062|188400||catch22 D004062|188400||catch22 included D004062|188400||chromosome 22q11 2 deletion syndrome D004062|188400||conotruncal anomaly face syndrome D004062|188400||conotruncal anomaly face syndrome ctaf D004062|188400||deletion 22q11 2 syndrome D004062|188400||deletion syndrome 22q11 2 D004062|188400||dgcr included D004062|188400||dgs D004062|188400||digeorge anomaly D004062|188400||digeorge sequence D004062|188400||familial third and fourth pharyngeal pouch syndrome D004062|188400||hypoplasia of thymus and parathyroids D004062|188400||pharyngeal pouch syndrome D004062|188400||sedlackova syndrome D004062|188400||shprintzen syndrome D004062|188400||shprintzen vcf syndrome D004062|188400||syndrome digeorge D004062|188400||syndrome sedlackova D004062|188400||syndrome shprintzen D004062|188400||syndrome vcf D004062|188400||syndrome velocardiofacial D004062|188400||syndrome velo cardio facial D004062|188400||takao vcf syndrome included D004062|188400||third and fourth pharyngeal pouch syndrome D004062|188400||third and fourth pharyngeal pouch syndrome digeorge syndrome chromosome region included D004062|188400||thymic aplasia syndrome D004062|188400||vcfs D004062|188400||vcf syndrome D004062|188400||velocardiofacial syndrome D004062|188400||velo cardio facial syndrome D018567||breast neoplasms male D018567||breast cancer male D018567||breast carcinoma male D018567||breast neoplasm male D018567||breast tumor male D018567||breast tumors male D018567||cancer male breast D018567||carcinoma male breast D018567||male breast cancer D018567||male breast carcinoma D018567||male breast neoplasm D018567||male breast neoplasms D018567||male breast tumor D018567||male breast tumors D018567||neoplasm male breast D018567||neoplasms breast male D018567||neoplasms male breast D018567||tumor male breast D018567||tumors breast male D018567||tumors male breast C563491||orofaciodigital syndrome x C563491||oral facial digital syndrome type x C563491||oral facial digital syndrome with fibular aplasia C563491||orofaciodigital syndrome with fibular aplasia C566552|602404||parkinson disease 3 autosomal dominant lewy body C566552|602404||park3 C566552|602404||parkinson disease 3 autosomal dominant C563490||orbital margin hypoplasia of C563497||optic atrophy hearing loss and peripheral neuropathy autosomal dominant C563496||optic atrophy with demyelinating disease of cns D017253||neurofibromatoses D017253||multiple neurofibroma D017253||multiple neurofibromas D017253||neurofibroma multiple D017253||neurofibromas multiple D017253||neurofibromatosis D017253||neurofibromatosis 3 D017253||neurofibromatosis 3s D017253||neurofibromatosis syndrome D017253||neurofibromatosis syndromes D017253||neurofibromatosis type 3 D017253||neurofibromatosis type 3s D017253||syndrome neurofibromatosis D017253||syndromes neurofibromatosis D017253||type 3 neurofibromatosis C563494||optic atrophy with negative electroretinograms D017254||leukemic infiltration D017254||infiltration leukemic D017254||infiltrations leukemic D017254||leukemic infiltrations C563499||ophthalmoplegia familial total with iris transillumination C563498||ophthalmoplegia progressive with scrotal tongue and mental deficiency D017250||caliciviridae infections D017250||caliciviridae infection D017250||calicivirus infection D017250||calicivirus infections D017250||infection caliciviridae D017250||infection calicivirus D017250||infections caliciviridae D017250||infections calicivirus C563399|601068||epilepsy myoclonic benign adult familial type 1 C563399|601068||bafme1 C563399|601068||benign adult familial myoclonic epilepsy 1 C563399|601068||cortical myoclonic tremor with epilepsy familial C563399|601068||cortical myoclonic tremor with epilepsy familial 1 C563399|601068||cortical tremor familial C563399|601068||epilepsy familial adult myoclonic 1 C563399|601068||fame1 C563399|601068||fcmte1 D020886||somatosensory disorders D020886||diminished pain sensation D020886||diminished pinprick sensation D020886||diminisheds pain sensation D020886||diminisheds pinprick sensation D020886||impairment light touch sensation D020886||light touch sensation impairment D020886||pain sensation diminished D020886||pain sensation diminisheds D020886||pinprick sensation diminished D020886||pinprick sensation diminisheds D020886||position sense disorder D020886||position sense disorders D020886||proprioceptive disorder D020886||proprioceptive disorders D020886||sensation diminished pain D020886||sensation diminished pinprick D020886||sensation diminisheds pain D020886||sensation diminisheds pinprick D020886||sensation disorder somatic D020886||sensation disorders somatic D020886||sensation disorders thermal D020886||sensation disorder thermal D020886||sense disorder position D020886||sense disorders position D020886||somatic sensation disorder D020886||somatic sensation disorders D020886||somatosensory disorder D020886||thermal sensation disorder D020886||thermal sensation disorders D005266||femoral neoplasms D005266||femoral neoplasm D005266||neoplasm femoral D005266||neoplasms femoral D005265||femoral neck fractures D005265||femoral neck fracture D005265||femur neck fracture D005265||femur neck fractures 181430||spmd 181430||spmm 613239||thyrotoxic periodic paralysis susceptibility to 2 613239||ttpp2 C563492|165550||optic nerve hypoplasia bilateral C563492|165550||optic nerve aplasia bilateral included C566982|611263||asphyxiating thoracic dystrophy 2 C566982|611263||atd2 C566982|611263||short rib thoracic dysplasia 2 with or without polydactyly C566982|611263||srtd2 D017246||ophthalmoplegia chronic progressive external D017246||chronic progressive external ophthalmoplegia D017246||cpeo D017246||disease graefe D017246||dystrophy ocular muscular D017246||external ophthalmoplegia progressive D017246||graefe disease D017246||graefe apos s disease D017246||mitochondrial ocular myopathy D017246||muscular dystrophies ocular D017246||muscular dystrophy ocular D017246||myopathy mitochondrial ocular D017246||ocular muscular dystrophies D017246||ocular muscular dystrophy D017246||ocular myopathy mitochondrial D017246||ocular myopathy of von graefe fuchs D017246||ophthalmoplegia progressive external D017246||progressive external ophthalmoplegia C563464||orofacial cleft 7 C566585|602085||polydactyly postaxial type a2 C566585|602085||papa2 C566585|602085||postaxial polydactyly type a2 C564793||subaortic stenosis membranous C564792||sucrosuria hiatus hernia and mental retardation C563468||cleft lip congenital healed C563468||congenital healed cleft lip C564799||spondylocostal dysostosis with anal atresia and urogenital anomalies C564799||casamassima morton nance syndrome C563467||hypertryptophanemia familial 181405||spsma C563466||uv sensitive syndrome C564797||spondyloepiphyseal dysplasia tarda autosomal recessive C564796||spondyloepiphyseal dysplasia tarda with mental retardation D014923|301000||wiskott aldrich syndrome D014923|301000||aldrich syndrome D014923|301000||eczema thrombocytopenia immunodeficiency syndrome D014923|301000||eczema thrombocytopenia immunodeficiency syndromes D014923|301000||imd2 D014923|301000||immunodeficiency 2 D014923|301000||syndrome aldrich D014923|301000||syndrome eczema thrombocytopenia immunodeficiency D014923|301000||syndromes eczema thrombocytopenia immunodeficiency D014923|301000||syndrome wiskott aldrich D014923|301000||was D014923|301000||was1 D014923|301000||wiskott aldrich syndrome 1 D014923|301000||wiskott syndrome C565225|609812||maturity onset diabetes of the young type 8 with exocrine dysfunction C565225|609812||diabetes and pancreatic exocrine dysfunction C565225|609812||diabetes pancreatic exocrine dysfunction syndrome C565225|609812||dped C565225|609812||mody8 D005236||favism D005236||favisms 215140||grbgd 213200|C565865||spinocerebellar ataxia autosomal recessive 2 213200|C565865||cerebellar granular cell hypoplasia and mental retardation congenital 213200|C565865||cerebellar hypoplasia nonprogressive norman type 213200|C565865||cerebelloparenchymal disorder iii 213200|C565865||cpd3 213200|C565865||cpd iii 213200|C565865||scar2 D007896||leishmaniasis D007896||leishmaniases D006566||herpesviridae infections D006566||herpesviridae infection D006566||herpesvirus infection D006566||herpesvirus infections D006566||infection herpesviridae D006566||infection herpesvirus D006566||infections herpesviridae D006566||infections herpesvirus D007897||leishmaniasis mucocutaneous D007897||leishmaniases mucocutaneous D007897||mucocutaneous leishmaniases D007897||mucocutaneous leishmaniasis D006563||herpes zoster ophthalmicus D006563||herpes zoster ocular D006563||ocular herpes zoster D005235||fatty liver alcoholic D005235||alcoholic fatty liver D005235||alcoholic steatohepatitis D005234||fatty liver D005234||liver fatty D005234||liver steatoses D005234||liver steatosis D005234||steatohepatitides D005234||steatohepatitis D005234||steatoses liver D005234||steatosis liver D005234||visceral steatosis 613238||spondyloarthropathy susceptibility to 3 613238||spda3 C536703|314580||wieacker syndrome C536703|314580||apraxia oculomotor with congenital contractures and muscle atrophy C536703|314580||contractures of feet muscle atrophy and oculomotor apraxia C536703|314580||wieacker wolff syndrome C536703|314580||wrwf D005242||fecal incontinence D005242||fecal incontinences D005242||incontinence fecal D005242||incontinences fecal C567639|613330||spondylo megaepiphyseal metaphyseal dysplasia C567639|613330||smmd D017219||gastric outlet obstruction D017219||gastric outlet obstructions D017219||obstruction gastric outlet D017219||obstructions gastric outlet D017219||outlet obstruction gastric D017219||outlet obstructions gastric 600081|C564005||vitamin d hydroxylation deficient rickets type 1b 600081|C564005||25 hydroxyvitamin d3 deficiency selective 600081|C564005||pseudovitamin d3 deficiency rickets due to 25 hydroxylase deficiency 600081|C564005||vddr1b 600081|C564005||vitamin d dependent rickets type 1b D020879||neuromuscular manifestations D020879||disease manifestation muscle D020879||disease manifestations muscle D020879||manifestation muscle disease D020879||manifestation neuromuscular D020879||manifestations muscle disease D020879||manifestations neuromuscular D020879||muscle disease manifestation D020879||muscle disease manifestations D020879||neuromuscular manifestation D020879||neuromuscular signs and symptoms D020879||signs and symptoms neuromuscular 214500|D002609||chediak higashi syndrome 214500|D002609||chs 214500|D002609||oculocutaneous albinism with leukocyte defect 214500|D002609||syndrome chediak higashi D018549||cryptogenic organizing pneumonia D018549||boop D018549||bronchiolitis obliterans organizing pneumonia D018549||cryptogenic organizing pneumonias D018549||organizing pneumonia cryptogenic D018549||organizing pneumonias cryptogenic D018549||pneumonia cryptogenic organizing D018549||pneumonias cryptogenic organizing 187800|C566061||glanzmann thrombasthenia autosomal dominant 187800|C566061||bdplt16 187800|C566061||bleeding disorder platelet type 16 187800|C566061||thrombasthenia of glanzmann and naegeli autosomal dominant D058088|608099||sarcoglycanopathies D058088|608099||adhalinopathies D058088|608099||adhalinopathies primary D058088|608099||adhalinopathy primary D058088|608099||alpha sarcoglycanopathies D058088|608099||alpha sarcoglycanopathy D058088|608099||dmda2 D058088|608099||duchenne like autosomal recessive muscular dystrophy type 2 D058088|608099||lgmd2d D058088|608099||limb girdle muscular dystrophy type 2d D058088|608099||muscular dystrophy limb girdle type 2d D058088|608099||muscular dystrophy limb girdle with alpha sarcoglycan deficiency D058088|608099||primary adhalinopathies D058088|608099||primary adhalinopathy D058088|608099||sarcoglycanopathy D019873||schnitzler syndrome C563470||setting sun phenomenon familial benign D056846|277600||weill marchesani syndrome D056846|277600||congenital mesodermal dysmorphodystrophies D056846|277600||congenital mesodermal dysmorphodystrophy D056846|277600||dysmorphodystrophies congenital mesodermal D056846|277600||dysmorphodystrophy congenital mesodermal D056846|277600||gemss D056846|277600||glaucoma lens ectopia microspherophakia stiffness shortness syndrome D056846|277600||marchesani syndrome D056846|277600||marchesani weill syndrome D056846|277600||marchesani weill syndromes D056846|277600||mesodermal dysmorphodystrophies congenital D056846|277600||mesodermal dysmorphodystrophy congenital D056846|277600||spherophakia brachymorphia syndrome D056846|277600||spherophakia brachymorphia syndromes D056846|277600||syndrome spherophakia brachymorphia D056846|277600||syndromes spherophakia brachymorphia D056846|277600||weill marchesani syndrome 1 D056846|277600||weill marchesani syndrome 2 D056846|277600||weill marchesani syndrome autosomal dominant D056846|277600||weill marchesani syndrome autosomal recessive D056846|277600||wms1 D056846|277600||wms2 D017213||root caries D017213||caries cervical D017213||caries root D017213||cary cervical D017213||cervical caries D017213||cervical cary C563472||spondyloepiphyseal dysplasia with atlantoaxial instability C563479||ovalocytosis hereditary hemolytic with defective erythropoiesis C563477||nephrolithiasis calcium oxalate C563477||urolithiasis calcium oxalate 113300||brachydactyly type e1 113300||bde 113300||bde1 215150||osmed D012021|145290||reflex abnormal D012021|145290||abnormal deep tendon reflex D012021|145290||abnormal reflex D012021|145290||abnormal reflexes D012021|145290||absent reflex D012021|145290||bulbocavernosus reflex decreased D012021|145290||bulbocavernousus reflex absent D012021|145290||decreased bulbocavernosus reflex D012021|145290||decreased reflex D012021|145290||hoffman apos s reflex D012021|145290||hrx D012021|145290||hyperreflexia D012021|145290||hyporeflexia D012021|145290||palmo mental reflex D012021|145290||pendular reflex D012021|145290||reflex absent D012021|145290||reflex absent bulbocavernousus D012021|145290||reflex acoustic abnormal D012021|145290||reflex anal absent D012021|145290||reflex anal decreased D012021|145290||reflex ankle abnormal D012021|145290||reflex ankle absent D012021|145290||reflex ankle decreased D012021|145290||reflex biceps abnormal D012021|145290||reflex biceps absent D012021|145290||reflex biceps decreased D012021|145290||reflex corneal absent D012021|145290||reflex corneal decreased D012021|145290||reflex decreased D012021|145290||reflex decreased bulbocavernosus D012021|145290||reflex deep tendon abnormal D012021|145290||reflex deep tendon absent D012021|145290||reflexes abnormal D012021|145290||reflex gag absent D012021|145290||reflex gag decreased D012021|145290||reflex hoffman apos s D012021|145290||reflex knee abnormal D012021|145290||reflex knee decreased D012021|145290||reflex moro asymmetric D012021|145290||reflex palmo mental D012021|145290||reflex pendular D012021|145290||reflex triceps abnormal D012021|145290||reflex triceps absent D012021|145290||reflex triceps decreased D020863||central nervous system cysts D020863||cleft cysts rathke apos s D020863||cysts central nervous system D020863||cysts rathke cleft D020863||cysts suprasellar D020863||cyst suprasellar D020863||rathke cleft cysts D020863||rathke apos s cleft cysts D020863||rathkes cleft cysts D020863||suprasellar cyst D020863||suprasellar cysts D005244||fecal impaction D005244||fecalith D005244||feces impacted D005244||impaction fecal D020734|600116||parkinsonian disorders D020734|600116||autosomal dominant juvenile parkinson disease D020734|600116||autosomal dominant juvenile parkinsonism D020734|600116||autosomal dominant parkinsonism D020734|600116||autosomal recessive juvenile parkinson disease D020734|600116||autosomal recessive parkinsonism D020734|600116||autosomal recesssive juvenile parkinsonism D020734|600116||chromosome 6 linked autosomal recessive parkinsonism D020734|600116||diseases experimental parkinson D020734|600116||dominant parkinsonism autosomal D020734|600116||epdf D020734|600116||experimental parkinson disease D020734|600116||experimental parkinson diseases D020734|600116||experimental parkinsonism D020734|600116||experimental parkinsonism mptp induced D020734|600116||experimental parkinsonisms D020734|600116||familial juvenile parkinsonism D020734|600116||familial parkinson disease autosomal recessive D020734|600116||juvenile parkinson disease D020734|600116||juvenile parkinson disease autosomal dominant D020734|600116||juvenile parkinson disease autosomal recessive D020734|600116||juvenile parkinsonism D020734|600116||juvenile parkinsonism autosomal dominant D020734|600116||juvenile parkinsonism autosomal recessive D020734|600116||juvenile parkinsonism familial D020734|600116||juvenile parkinsonisms D020734|600116||mptp induced experimental parkinsonism D020734|600116||park2 D020734|600116||parkinson disease 2 D020734|600116||parkinson disease 2 autosomal recessive juvenile D020734|600116||parkinson disease autosomal dominant juvenile D020734|600116||parkinson disease autosomal recessive early onset D020734|600116||parkinson disease experimental D020734|600116||parkinson disease familial autosomal recessive D020734|600116||parkinson disease juvenile D020734|600116||parkinson disease juvenile autosomal dominant D020734|600116||parkinson disease juvenile autosomal recessive D020734|600116||parkinson diseases experimental D020734|600116||parkinsonian diseases D020734|600116||parkinsonian syndrome D020734|600116||parkinsonian syndromes D020734|600116||parkinsonism D020734|600116||parkinsonism autosomal dominant D020734|600116||parkinsonism autosomal recessive D020734|600116||parkinsonism early onset with diurnal fluctuation D020734|600116||parkinsonism experimental D020734|600116||parkinsonism familial juvenile D020734|600116||parkinsonism juvenile D020734|600116||parkinsonism juvenile autosomal dominant D020734|600116||parkinsonism juvenile autosomal recessive D020734|600116||parkinsonism mptp induced experimental D020734|600116||parkinsonisms experimental D020734|600116||parkinsonisms juvenile D020734|600116||pdj D020734|600116||ramsay hunt paralysis syndrome D020734|600116||recessive parkinsonism autosomal D017227||toxascariasis D017227||toxascariases D017229||enterobiasis D017229||enterobiases D017229||enterobius vermicularis infection D017229||enterobius vermicularis infections D017229||infection enterobius vermicularis D017229||infection oxyuris vermicularis D017229||infections enterobius vermicularis D017229||infections oxyuris vermicularis D017229||oxyuris vermicularis infection D017229||oxyuris vermicularis infections C563482||otodental dysplasia C563482||chromosome 11q13 deletion syndrome C563482||oculootodental syndrome C563482||otodental syndrome C563482||otodental syndrome with coloboma 607847|C564320||neutropenia nonimmune chronic idiopathic adult 607847|C564320||neutropenia nonimmune chronic idiopathic of adults 607847|C564320||ni cina 607847|C564320||nonimmune chronic idiopathic neutropenia of adults C563480||ovalocytosis hereditary hemolytic C564773||thoracomelic dysplasia C564773||thoraco limb dysplasia C537154||hypomandibular faciocranial dysostosis C537155||hypomelia mullerian duct anomalies C537155||hypomelia with mullerian duct anomalies C537155||limb uterus syndrome C537155||severe upper limb hypoplasia and mullerian duct anomalies C564771||tetraphocomelia thrombocytopenia syndrome C564770||thumb agenesis short stature and immunodeficiency C564777||male germ cell tumor C538489||familial hyperchylomicronemia syndrome C538489||hyperlipoproteinemia type 1 D005218||fat necrosis D005218||fat necroses D005218||necrosis fat D005218||steatonecroses D005218||steatonecrosis C537159||hypotonia congenital nystagmus ataxia and abnormal auditory brainstem response C537159||hypotonia congenital nystagmus ataxia and abnormal auditory brainstem responses 106260|C535847||hay wells syndrome 106260|C535847||aec syndrome 106260|C535847||ankyloblepharon ectodermal defects cleft lip and palate syndrome 106260|C535847||ankyloblepharon ectodermal defects cleft lip cleft palate 106260|C535847||ankyloblepharon ectodermal defects cleft lip palate 106260|C535847||hay wells syndrome dominant form D006549||hernia diaphragmatic traumatic D006549||diaphragmatic hernias traumatic D006549||diaphragmatic hernia traumatic D006549||hernias traumatic diaphragmatic D006549||hernia traumatic diaphragmatic D006549||traumatic diaphragmatic hernia D006549||traumatic diaphragmatic hernias C564774||thoracic dysplasia hydrocephalus syndrome D006547||hernia D006547||enterocele D006547||hernias C536872|600146||spastic paraplegia type 5b recessive C536872|600146||spastic paraplegia 5b autosomal recessive C536872|600146||spg5b D006548||hernia diaphragmatic D006548||diaphragmatic hernia D006548||diaphragmatic hernias D006548||hernias diaphragmatic D007876||legionellosis D007876||legionelloses C563425|606176||diabetes mellitus permanent neonatal C563425|606176||dend included C563425|606176||developmental delay epilepsy and neonatal diabetes included C563425|606176||diabetes mellitus permanent of infancy C563425|606176||diabetes mellitus permanent of infancy pdmi diabetes mellitus permanent neonatal with neurologic features included C563425|606176||permanent neonatal diabetes mellitus C563425|606176||pndm C563447||dwarfism familial with muscle spasms D020852||lyme neuroborreliosis D020852||borrelia burgdorferi neuroborreliosis D020852||central nervous system lyme disease D020852||encephalopathies lyme disease D020852||encephalopathy lyme disease D020852||lyme borreliosis nervous system D020852||lyme disease central nervous system D020852||lyme disease encephalopathies D020852||lyme disease encephalopathy D020852||lyme disease mononeuritis multiplex D020852||lyme disease nervous system D020852||lyme meningoencephalitis D020852||lyme meningoradiculitis D020852||lyme polyradiculitides D020852||lyme polyradiculitis D020852||lyme polyradiculopathies D020852||lyme polyradiculopathy D020852||meningoencephalitis lyme D020852||meningoradiculitis lyme D020852||mononeuritis multiplex lyme disease D020852||nervous system lyme borreliosis D020852||nervous system lyme disease D020852||neuroborrelioses borrelia burgdorferi D020852||neuroborreliosis borrelia burgdorferi D020852||neuroborreliosis lyme D020852||peripheral nervous system lyme disease D020852||polyradiculitides lyme D020852||polyradiculitis lyme D020852||polyradiculopathies lyme D020852||polyradiculopathy lyme C538482||monosomy 5p D005211||fascioliasis D005211||fascioliases C538481||acquired cjd C538481||sporadic cjd D005213||fascioloidiasis D005213||fascioloidiases D006550||hernia femoral D006550||femoral hernia D006550||femoral hernias D006550||hernias femoral D006551||hernia hiatal D006551||esophageal hernia D006551||esophageal hernias D006551||esophageal hernia sliding D006551||esophageal hernias sliding D006551||hernia esophageal D006551||hernia hiatus D006551||hernia paraesophageal D006551||hernia paraesophageal hiatal D006551||hernias esophageal D006551||hernias hiatal D006551||hernias hiatus D006551||hernia sliding esophageal D006551||hernia sliding hiatal D006551||hernias paraesophageal D006551||hernias paraesophageal hiatal D006551||hernias sliding esophageal D006551||hernias sliding hiatal D006551||hiatal hernia D006551||hiatal hernia paraesophageal D006551||hiatal hernias D006551||hiatal hernia sliding D006551||hiatal hernias paraesophageal D006551||hiatal hernias sliding D006551||hiatus hernia D006551||hiatus hernias D006551||paraesophageal hernia D006551||paraesophageal hernias D006551||paraesophageal hiatal hernia D006551||paraesophageal hiatal hernias D006551||sliding esophageal hernia D006551||sliding esophageal hernias D006551||sliding hiatal hernia D006551||sliding hiatal hernias D020859||hallux rigidus D020859||rigidus hallux D020857||hallux limitus D020857||limitus hallux C535328|212200||homocarnosinosis C535328|212200||carnosinase deficiency C535328|212200||carnosinemia C535328|212200||homocarnosinase deficiency D004832|600131||epilepsy absence D004832|600131||absence epilepsies childhood D004832|600131||absence epilepsies juvenile D004832|600131||absence epilepsy D004832|600131||absence epilepsy childhood D004832|600131||absence epilepsy juvenile D004832|600131||absence seizure D004832|600131||absence seizure atonic D004832|600131||absence seizure disorder D004832|600131||absence seizure disorders D004832|600131||absence seizures D004832|600131||absence seizures atonic D004832|600131||akinetic petit mal D004832|600131||atonic absence seizure D004832|600131||atonic absence seizures D004832|600131||childhood absence epilepsies D004832|600131||childhood absence epilepsy D004832|600131||convulsion petit mal D004832|600131||eca1 D004832|600131||eca2 D004832|600131||eca5 D004832|600131||eca6 D004832|600131||eig6 included D004832|600131||eja1 D004832|600131||epilepsies childhood absence D004832|600131||epilepsies juvenile absence D004832|600131||epilepsy absence atypical D004832|600131||epilepsy childhood absence D004832|600131||epilepsy childhood absence susceptibility to 1 D004832|600131||epilepsy childhood absence susceptibility to 2 D004832|600131||epilepsy childhood absence susceptibility to 5 D004832|600131||epilepsy childhood absence susceptibility to 6 D004832|600131||epilepsy idiopathic generalized susceptibility to 6 included D004832|600131||epilepsy juvenile absence D004832|600131||epilepsy juvenile absences D004832|600131||epilepsy juvenile absence susceptibility to 1 D004832|600131||epilepsy minor D004832|600131||epilepsy petit mal D004832|600131||jae1 D004832|600131||juvenile absence epilepsies D004832|600131||juvenile absence epilepsy D004832|600131||juvenile absences epilepsy D004832|600131||minor epilepsies D004832|600131||minor epilepsy D004832|600131||petit mal akinetic D004832|600131||petit mal convulsion D004832|600131||petit mal epilepsies D004832|600131||petit mal epilepsy D004832|600131||pykno epilepsies D004832|600131||pykno epilepsy D004832|600131||pyknolepsies D004832|600131||pyknolepsy D004832|600131||seizure absence D004832|600131||seizure atonic absence D004832|600131||seizure disorder absence D004832|600131||seizure disorders absence D004832|600131||seizures atonic absence C563453||proximal myopathy with focal depletion of mitochondria C564784||gm2 gangliosidosis adult chronic type 100070||aaa 100070||aaa1 C538497||irresistible sleepiness cataplexy and onset of sleep in desynchronized phase C564783||hexosaminidase a deficiency adult type C538496||dilated cardiomyopathy neutropenia skeletal myopathy and abnormal mitochondria C564782||tay sachs disease juvenile C537163||pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections C538494||aplastic anemia idiopathic C537164||panostotic fibrous dysplasia C564788||tapetoretinal degeneration with ataxia C537169||papular urticaria C537169||bullous papular urticaria type C563456||colorectal cancer hereditary nonpolyposis type 5 C563456||hnpcc5 300624|D005600||fragile x mental retardation syndrome fragile x syndrome 300624|D005600||mental retardation x linked associated with marxq28 300624|D005600||x linked mental retardation and macroorchidism 300624|D005600||marker x syndrome 300624|D005600||martin bell syndrome primary ovarian insufficiency fragile x associated included 300624|D005600||fragile x premature ovarian failure included C564787||tatsumi factor deficiency C563455||dermoid cysts familial frontonasal C564786||tay sachs disease pseudo ab variant C538499||erythema migrans C537167||papillomatosis florid of nipple C537167||florid papillomatosis of the nipple C564785||tay sachs disease variant b1 D006558||herpes genitalis D006558||genital herpes D006558||genital herpes simplex D006558||herpes genital D006558||herpes simplex genital D006558||herpes simplex virus genital infection D007889||leiomyoma D007889||fibroid D007889||fibroids D007889||fibroids uterine D007889||fibroid tumor D007889||fibroid tumors D007889||fibroid uterine D007889||fibroid uterus D007889||fibromas uterine D007889||fibroma uterine D007889||fibromyoma D007889||fibromyomas D007889||leiomyomas D007889||leiomyoma uterine D007889||tumor fibroid D007889||tumors fibroid D007889||uterine fibroid D007889||uterine fibroids D007889||uterine fibroma D007889||uterine fibromas D007889||uterus fibroid C535483|193700||freeman sheldon syndrome C535483|193700||arthrogryposis distal type 2a C535483|193700||craniocarpotarsal dysplasia C535483|193700||craniocarpotarsal dystrophy C535483|193700||da2a C535483|193700||distal arthrogryposis type 2a C535483|193700||fss C535483|193700||whistling face syndrome C535483|193700||whistling face windmill vane hand syndrome D006559||pemphigoid gestationis D006559||gestational pemphigoid D006559||gestational pemphigoids D006559||gestationi pemphigoid D006559||gestationis pemphigoid D006559||herpes gestationis D006559||pemphigoid gestational D006559||pemphigoid gestationi D006559||pemphigoids gestational 254780|D020192||lafora disease 254780|D020192||disease lafora 254780|D020192||disease lafora body 254780|D020192||disorder lafora body 254780|D020192||epilepsy progressive myoclonic 2 254780|D020192||epilepsy progressive myoclonic 2a 254780|D020192||epilepsy progressive myoclonic lafora 254780|D020192||epm2a 254780|D020192||epm2b included 254780|D020192||epm2 epilepsy progressive myoclonic 2b included 254780|D020192||lafora body disease 254780|D020192||lafora body disease late onset 254780|D020192||lafora body disorder 254780|D020192||lafora myoclonic epilepsy 254780|D020192||lafora progressive myoclonic epilepsy 254780|D020192||lafora progressive myoclonus epilepsy 254780|D020192||lafora type progressive myoclonic epilepsy 254780|D020192||late onset lafora body disease 254780|D020192||lbd 254780|D020192||melf 254780|D020192||myoclonic epilepsy of lafora 254780|D020192||progressive myoclonic epilepsy lafora 254780|D020192||progressive myoclonic epilepsy lafora type 254780|D020192||progressive myoclonic epilepsy type 2 254780|D020192||progressive myoclonus epilepsy lafora type D006556||heroin dependence D006556||abuse heroin D006556||addiction heroin D006556||dependence heroin D006556||heroin abuse D006556||heroin addiction D006557||herpangina D006557||herpanginas C563458||varicella severe recurrent D012559|181500||schizophrenia D012559|181500||dementia praecox D012559|181500||disorder schizophrenic D012559|181500||disorders schizophrenic D012559|181500||schizoaffective disorder included D012559|181500||schizophrenia 1 D012559|181500||schizophrenia 11 D012559|181500||schizophrenia 12 D012559|181500||schizophrenia 13 D012559|181500||schizophrenia 14 D012559|181500||schizophrenia 2 D012559|181500||schizophrenia 3 D012559|181500||schizophrenia 4 D012559|181500||schizophrenia 5 D012559|181500||schizophrenia 6 D012559|181500||schizophrenia 7 D012559|181500||schizophrenia 8 D012559|181500||schizophrenia 9 D012559|181500||schizophrenias D012559|181500||schizophrenia susceptibility locus chromosome 10q related D012559|181500||schizophrenia susceptibility locus chromosome 11q related D012559|181500||schizophrenia susceptibility locus chromosome 13q related D012559|181500||schizophrenia susceptibility locus chromosome 15q13 q14 related schizophrenia neurophysiologic defect in included D012559|181500||schizophrenia susceptibility locus chromosome 18 related D012559|181500||schizophrenia susceptibility locus chromosome 1p related D012559|181500||schizophrenia susceptibility locus chromosome 1q42 related D012559|181500||schizophrenia susceptibility locus chromosome 22q11 related D012559|181500||schizophrenia susceptibility locus chromosome 2q32 related D012559|181500||schizophrenia susceptibility locus chromosome 5 related D012559|181500||schizophrenia susceptibility locus chromosome 6q related D012559|181500||schizophrenia susceptibility locus chromosome 6 related D012559|181500||schizophrenia susceptibility locus chromosome 8p related D012559|181500||schizophrenic disorder D012559|181500||schizophrenic disorders D012559|181500||sczd D012559|181500||sczd1 D012559|181500||sczd11 D012559|181500||sczd12 D012559|181500||sczd13 D012559|181500||sczd14 D012559|181500||sczd2 D012559|181500||sczd3 D012559|181500||sczd4 D012559|181500||sczd5 D012559|181500||sczd6 D012559|181500||sczd7 D012559|181500||sczd8 D012559|181500||sczd9 D006554||hernia umbilical D006554||exomphalos D006554||hernias umbilical D006554||omphalocele D006554||omphaloceles D006554||umbilical hernia D006554||umbilical hernias C538493||familial burkitt apos s lymphoma D005222||mental fatigue D005222||fatigue mental D006555||hernia ventral D006555||hernias ventral D006555||ventral hernia D006555||ventral hernias D005221||fatigue D005221||lassitude C537162||pancreatoblastoma D006552||hernia inguinal D006552||direct inguinal hernia D006552||direct inguinal hernias D006552||hernia direct inguinal D006552||hernia indirect inguinal D006552||hernias direct inguinal D006552||hernias indirect inguinal D006552||hernias inguinal D006552||indirect inguinal hernia D006552||indirect inguinal hernias D006552||inguinal hernia D006552||inguinal hernia direct D006552||inguinal hernia indirect D006552||inguinal hernias D006552||inguinal hernias direct D006552||inguinal hernias indirect D006553||hernia obturator D006553||hernias obturator D006553||obturator hernia D006553||obturator hernias D006561||herpes simplex D006562||herpes zoster D006562||shingles D006562||zona D006562||zoster D007890||leiomyosarcoma D007890||epithelioid leiomyosarcoma D007890||epithelioid leiomyosarcomas D007890||leiomyosarcoma epithelioid D007890||leiomyosarcoma myxoid D007890||leiomyosarcomas D007890||leiomyosarcomas epithelioid D007890||leiomyosarcomas myxoid D007890||myxoid leiomyosarcoma D007890||myxoid leiomyosarcomas 208550|C565935||asthma nasal polyps and aspirin intolerance 208550|C565935||asa triad 208550|C565935||asa triad asthma aspirin induced susceptibility to included 208550|C565935||asthma and nasal polyps included D006560||herpes labialis D006560||blister fever D006560||blisters fever D006560||cold sore D006560||cold sores D006560||fever blister D006560||fever blisters D006560||herpes simplex labial D006560||labial herpes simplex D006560||sore cold D006560||sores cold 203450|D038261||alexander disease 203450|D038261||alexander apos s disease 203450|D038261||alexanders disease 203450|D038261||demyelinogenic leukodystrophy 203450|D038261||dysmyelinogenic leukodystrophy 203450|D038261||fibrinoid degeneration of astrocytes 203450|D038261||leukodystrophy with rosenthal fibers D019867||anti glomerular basement membrane disease D019867||anti gbm disease D019867||goodpasture apos s syndrome D019867||goodpastures syndrome D019867||goodpasture syndrome D019867||lung purpura with nephritis D019867||syndrome goodpasture D019867||syndrome goodpasture apos s D017205||spirurida infections D017205||habronemiases D017205||habronemiasis D017205||infection spirurida D017205||infections spirurida D017205||spirurida infection 607447||body mass index quantitative trait locus 4 607447||bmiq4 C536596|606889||alzheimer disease type 4 C536596|606889||ad4 C536596|606889||alzheimer disease 4 C536596|606889||alzheimer disease familial 4 C536596|606889||alzheimer disease familial type 4 D017206||strongylida infections D017206||dentatus infections stephanurus D017206||dentatus infection stephanurus D017206||infections stephanurus dentatus D017206||infections strongylida D017206||infection stephanurus dentatus D017206||infection strongylida D017206||stephanurus dentatus infection D017206||stephanurus dentatus infections D017206||strongylida infection D017206||syngamiases D017206||syngamiasis D013341|608355||sturge weber syndrome D013341|608355||angiomatosis meningo oculo facial D013341|608355||angiomatosis oculoorbital thalamic syndrome D013341|608355||encephalofacial hemangiomatosis syndrome D013341|608355||hemangiomatosis syndrome encephalofacial D013341|608355||meningofacial angiomatosis cerebral calcification syndrome D013341|608355||meningo oculo facial angiomatosis D013341|608355||neuroretinoangiomatosis D013341|608355||parkes weber syndrome D013341|608355||phakomatosis sturge weber D013341|608355||pkws D013341|608355||sturge disease D013341|608355||sturge kalischer weber syndrome D013341|608355||sturge apos s syndrome D013341|608355||sturge syndrome D013341|608355||sturge weber dimitri syndrome D013341|608355||sturge weber krabbe syndrome D013341|608355||sturge weber phakomatosis D013341|608355||syndrome encephalofacial hemangiomatosis D013341|608355||syndrome parkes weber D013341|608355||syndrome sturge D013341|608355||syndrome sturge kalischer weber D013341|608355||syndrome sturge apos s D013341|608355||syndrome sturge weber D013341|608355||syndrome sturge weber dimitri D013341|608355||syndrome sturge weber krabbe C535598|300352||creatine deficiency x linked C535598|300352||ccds1 C535598|300352||cerebral creatine deficiency syndrome 1 C535598|300352||creatine deficiency syndrome x linked C535598|300352||creatine transporter defect C535598|300352||creatine transporter deficiency C535598|300352||mental retardation x linked with creatine transport deficiency C535598|300352||mental retardation x linked with seizures short stature and midface hypoplasia C535598|300352||slc6a8 deficiency C535598|300352||slc6a8 related creatine transporter deficiency C535598|300352||x linked creatine deficiency C535598|300352||x linked creatine deficiency syndrome C535598|300352||x linked creatine transporter deficiency D017202||myocardial ischemia D017202||disease ischemic heart D017202||diseases ischemic heart D017202||heart disease ischemic D017202||heart diseases ischemic D017202||ischemia myocardial D017202||ischemias myocardial D017202||ischemic heart disease D017202||ischemic heart diseases D017202||myocardial ischemias C563420||epiphyseal dysplasia multiple with myopathy C564751|C536521|276950||vacterl association with hydrocephalus C564751||vacterl h D050723||fractures bone D050723||bone broken D050723||bone fracture D050723||bone fractures D050723||bones broken D050723||broken bone D050723||broken bones D050723||fracture bone C537176||parkinson disease 3 C564750||vascular hyalinosis C565840|603830||long qt syndrome 3 C565840|603830|C563614|613688||long qt syndrome 2 3 digenic included lqt2 3 digenic included C565840|603830||long qt syndrome 3 acquired susceptibility to included C565840|603830|C537034||lqt3 C537174||parc syndrome C537174||poikiloderma alopecia retrognathism and cleft palate D050724||fractures cartilage D050724||cartilage fracture D050724||cartilage fractures D050724||fracture cartilage D006529||hepatomegaly D006529||enlarged liver D006529||liver enlarged C563424||diabetes mellitus permanent neonatal with neurologic features C564755||usher syndrome type ib D007859||learning disorders D007859||academic disorder developmental D007859||academic disorders developmental D007859||adult learning disorder D007859||adult learning disorders D007859||developmental academic disorder D007859||developmental academic disorders D007859||developmental disorders of scholastic skills D007859||disabilities learning D007859||disability learning D007859||disturbance learning D007859||disturbances learning D007859||learning disabilities D007859||learning disability D007859||learning disorder D007859||learning disorder adult D007859||learning disorders adult D007859||learning disturbance D007859||learning disturbances D007859||scholastic skills development disorders C564752||vater association with hydrocephalus C564752||vater association with macrocephaly and ventriculomegaly D006525||hepatitis viral human C563428||long qt syndrome 4 C564759||trigonobrachycephaly bulbous bifid nose micrognathia and abnormalities of the hands and feet D020833||diffuse axonal injury D020833||axonal injuries diffuse D020833||axonal injury diffuse D020833||dai diffuse axonal injury D020833||dais diffuse axonal injury D020833||diffuse axonal injuries D020833||injuries diffuse axonal D020833||injury diffuse axonal C535314|273750||miller mckusick malvaux syndrome 3m syndrome C535314|273750||3m1 C535314|273750||3 m syndrome C535314|273750||3m syndrome C535314|273750||dolichospondylic dysplasia C535314|273750||gloomy face syndrome C535314|273750||gloomy face syndrome yakut short stature syndrome included C535314|273750||le merrer syndrome C535314|273750||three m slender boned nanism C535314|273750||three m syndrome C535314|273750||three m syndrome 1 C535314|273750||yakut short stature syndrome C563426||cataract pulverulent C564757||ulnar hypoplasia with mental retardation D006524||hepatitis viral animal D007855||lead poisoning D007855||lead poisonings D007855||poisoning lead D007855||poisonings lead C564756||ulnar agenesis and endocardial fibroelastosis D006521||hepatitis chronic D006521||chronic active hepatitis D006521||chronic hepatitis D006521||chronic hepatitis cryptogenic D006521||chronic persistent hepatitides D006521||chronic persistent hepatitis D006521||cryptogenic chronic hepatitis D006521||hepatitis chronic active D006521||hepatitis chronic cryptogenic D006521||hepatitis chronic persistent D006521||hepatitis cryptogenic chronic D000474|203500||alkaptonuria D000474|203500||aku D000474|203500||alcaptonuria D000474|203500||alcaptonurias D000474|203500||homogentisic acid oxidase deficiency D000474|203500||homogentisic acidura D006522||hepatitis infectious canine D006522||canine hepatitides infectious D006522||canine hepatitis infectious D006522||canine infectious hepatitides D006522||canine infectious hepatitis D006522||hepatitides canine infectious D006522||hepatitides infectious canine D006522||hepatitis canine infectious D006522||infectious canine hepatitides D006522||infectious canine hepatitis D006522||infectious hepatitides canine D006522||infectious hepatitis canine C537173||parathyroid cancer adult C537173||parathyroid carcinoma adult C537173||parathyroid neoplasm adult C537170||paraomphalocele C537170||paraomphalocele epigastric C537170||paraomphalocele hypogastric D006520||hepatitis animal D006520||animal hepatitides D006520||animal hepatitis D006520||hepatitides animal C563429||agonadism xy with mental retardation short stature retarded bone age and multiple extragenital malformations C537171||paraquat lung C537171||paraquat induced lung disease C536521|276950||vacterl hydrocephaly C536521|276950||vacterl association with hydrocephaly C536521|276950||vacterl h vater association with hydrocephalus included C536521|276950||vater association with macrocephaly and ventriculomegaly included C564503|300498||mental retardation x linked 45 C564503|300498||mrx45 D019838||neck injuries D019838||injuries neck D019838||injury neck D019838||neck injury C563396|601071||deafness autosomal recessive 9 C563396|601071||auditory neuropathy autosomal recessive 1 C563396|601071||auditory neuropathy nonsyndromic recessive included C563396|601071||aunb1 included C563396|601071||dfnb9 C563396|601071||neurosensory nonsyndromic recessive deafness 9 C563396|601071||neurosensory nonsyndromic recessive deafness 9 nsrd9 auditory neuropathy autosomal recessive 1 included C563396|601071||nsran included 608765||scoliosis idiopathic susceptibility to 3 608765||is3 C563431||wiskott aldrich syndrome autosomal dominant form C564762||tricarboxylic acid cycle defect of C537187||pili annulati C537187||ringed hair C563430||enamel hypoplasia cataracts and aqueductal stenosis C537188||pili multigemini C537188||compound hairs C564760||trichoodontoonychial dysplasia 100050||aarskog syndrome autosomal dominant 278150|D007039||hypotrichosis 278150|D007039||ah 278150|D007039||arwh1 included 278150|D007039||arwh2 included 278150|D007039||htl 278150|D007039||hypotrichoses 278150|D007039||hypotrichosis 10 278150|D007039||hypotrichosis 6 278150|D007039||hypotrichosis 7 278150|D007039||hypotrichosis 8 278150|D007039||hypotrichosis 9 278150|D007039||hypotrichosis localized autosomal recessive 3 lah3 woolly hair autosomal recessive 1 with or without hypotrichosis included 278150|D007039||hypotrichosis total mari type woolly hair autosomal recessive 2 with or without hypotrichosis included 278150|D007039||hypt10 278150|D007039||hypt6 278150|D007039||hypt7 278150|D007039||hypt8 278150|D007039||hypt9 278150|D007039||lah 278150|D007039||lah1 278150|D007039||lah2 278150|D007039||wh ht included C537186||pigmented purpuric eruption C537186||familial pigmented purpuric eruption C537186||familial schamberg apos s disease C537186||schamberg purpura D050738||mesomycetozoea infections D050738||infection mesomycetozoea D050738||infections mesomycetozoea D050738||mesomycetozoea infection D005208||fasciitis D005208||fasciitides D005208||fascitides D005208||fascitis C564765||thyrotropin biologically inactive D005207||fasciculation D005207||benign fasciculation D005207||benign fasciculations D005207||fasciculation benign D005207||fasciculation muscular D005207||fasciculation neural D005207||fasciculations D005207||fasciculations benign D005207||fasciculation skeletal muscle D005207||fasciculations muscular D005207||fasciculations neural D005207||fasciculations skeletal muscle D005207||fasciculations tongue D005207||fasciculation tongue D005207||muscle fasciculation skeletal D005207||muscle fasciculations skeletal D005207||muscular fasciculation D005207||muscular fasciculations D005207||neural fasciculation D005207||neural fasciculations D005207||skeletal muscle fasciculation D005207||skeletal muscle fasciculations D005207||tongue fasciculation D005207||tongue fasciculations D007869||leg injuries D007869||injuries leg D007869||injury leg D007869||leg injury C564764||tibia absence of with congenital deafness C537189||rufous oca D007868||leg dermatoses D007868||dermatoses leg D007868||dermatosis leg D007868||leg dermatosis C564769||thumb hypoplastic with choroid coloboma poorly developed antihelix and deafness D005203||farmer apos s lung D005203||farmer lung D005203||farmers lung D005203||farmer apos s lungs D005203||mushroom worker lung D005203||mushroom worker apos s lung D005203||mushroom workers lung D005203||mushroom worker apos s lungs C537180||familial paroxysmal dystonia C567127|611718||hypomagnesemia 4 renal C567127|611718||homg4 C567127|611718||hypomagnesemia renal normocalciuric C564768||thymic aplasia with fetal death D020821||dystonic disorders D020821||adult onset dystonia D020821||adult onset dystonias D020821||adult onset idiopathic focal dystonias D020821||adult onset idiopathic torsion dystonias D020821||autosomal dominant familial dystonia D020821||autosomal recessive familial dystonia D020821||childhood onset dystonia D020821||childhood onset dystonias D020821||dystonia adult onset D020821||dystonia childhood onset D020821||dystonia disorder D020821||dystonia disorders D020821||dystonia familial D020821||dystonia focal D020821||dystonia hereditary D020821||dystonia idiopathic familial D020821||dystonia primary D020821||dystonia psychogenic D020821||dystonias adult onset D020821||dystonias childhood onset D020821||dystonia secondary D020821||dystonias familial D020821||dystonias focal D020821||dystonias hereditary D020821||dystonias idiopathic familial D020821||dystonia sporadic D020821||dystonias primary D020821||dystonias psychogenic D020821||dystonias secondary D020821||dystonias sporadic D020821||dystonic disorder D020821||familial dystonia D020821||familial dystonia autosomal dominant D020821||familial dystonia autosomal recessive D020821||familial dystonia idiopathic D020821||familial dystonias D020821||familial dystonias idiopathic D020821||focal dystonia D020821||focal dystonias D020821||hereditary dystonia D020821||hereditary dystonias D020821||idiopathic familial dystonia D020821||idiopathic familial dystonias D020821||primary dystonia D020821||primary dystonias D020821||pseudodystonia D020821||pseudodystonias D020821||psychogenic dystonia D020821||psychogenic dystonias D020821||secondary dystonia D020821||secondary dystonias D020821||sporadic dystonia D020821||sporadic dystonias D020821||writer cramp D020821||writer apos s cramp D020821||writers cramp D020820||dyskinesias D020820||abnormal movement D020820||abnormal movements D020820||asterixis D020820||ballismus D020820||dyskinesia D020820||hemiballism D020820||hemiballismus D020820||involuntary movement D020820||involuntary movements D020820||movement abnormal D020820||movement involuntary D020820||movements abnormal D020820||movements involuntary 300551|C564489||mental retardation x linked 78 300551|C564489||mrx78 C537183||robinow sorauf syndrome C537183||acrocephalosyndactyly robinow sorauf type C537183||craniosynostosis bifid hallux syndrome D003550|219700||cystic fibrosis D003550|219700||cf D003550|219700||cystic fibrosis of pancreas D003550|219700||cystic fibrosis pancreatic D003550|219700||cystic fibrosis pulmonary D003550|219700||fibrocystic disease of pancreas D003550|219700||fibrosis cystic D003550|219700||mucoviscidosis D003550|219700||pancreas fibrocystic disease D003550|219700||pancreas fibrocystic diseases D003550|219700||pancreatic cystic fibrosis D003550|219700||pulmonary cystic fibrosis D006530||hepatorenal syndrome D006530||syndrome hepatorenal D007870||leg length inequality D007870||inequalities leg length D007870||inequality leg length D007870||leg length inequalities D007870||length inequalities leg D007870||length inequality leg D007871||leg ulcer D007871||leg ulcers D007871||ulcer leg D007871||ulcers leg D020828||pseudobulbar palsy D020828||bulbar palsies spastic D020828||bulbar palsy spastic D020828||dysarthria pseudobulbar D020828||dysarthrias pseudobulbar D020828||mutism pseudobulbar D020828||mutisms pseudobulbar D020828||palsies pseudobulbar D020828||palsies spastic bulbar D020828||palsy pseudobulbar D020828||palsy spastic bulbar D020828||paralyses pseudobulbar D020828||paralysis pseudobulbar D020828||pareses pseudobulbar D020828||paresis pseudobulbar D020828||pseudobulbar dysarthria D020828||pseudobulbar dysarthrias D020828||pseudobulbar mutism D020828||pseudobulbar mutisms D020828||pseudobulbar palsies D020828||pseudobulbar paralyses D020828||pseudobulbar paralysis D020828||pseudobulbar pareses D020828||pseudobulbar paresis D020828||pseudobulbar syndrome D020828||pseudobulbar syndromes D020828||spastic bulbar palsies D020828||spastic bulbar palsy D020828||syndrome pseudobulbar D020828||syndromes pseudobulbar D062706||prodromal symptoms D062706||characteristic prodromal D062706||characteristics prodromal D062706||period prodromal D062706||periods prodromal D062706||prodromal characteristic D062706||prodromal characteristics D062706||prodromal period D062706||prodromal periods D062706||prodromal sign D062706||prodromal signs D062706||prodromal stage D062706||prodromal stages D062706||prodromal state D062706||prodromal states D062706||prodromal symptom D062706||prodromal syndrome D062706||prodromal syndromes D062706||sign prodromal D062706||signs prodromal D062706||stage prodromal D062706||stages prodromal D062706||state prodromal D062706||states prodromal D062706||symptom prodromal D062706||symptoms prodromal D062706||syndrome prodromal D062706||syndromes prodromal 607426||coenzyme q10 deficiency primary 1 607426||coenzyme q deficiency 1 607426||coq10d1 607426||coq10 deficiency primary 1 607426||coq deficiency 1 607426||ubiquinone deficiency 1 D019846||miller fisher syndrome D019846||fisher syndrome D019846||guillain barre syndrome miller fisher variant D019846||miller fisher variant of guillain barre syndrome D019846||ophthalmoplegia ataxia and areflexia syndrome D019846||syndrome fisher D019846||syndrome miller fisher D018512||parasitemia D018512||parasitemias C567364|612285||joubert syndrome 9 C567364|612285||jbts9 C567364|612285||joubert syndrome 9 15 digenic included C538442||aase smith syndrome 2 C538442||anemia and triphalangeal thumbs C538442||congenital anemia and triphalangeal thumbs C538442||hypoplastic anemia triphalangeal thumbs aase smith type C537110||chromosome 21 monosomy 21q22 C537110||deletion 21q22 C537110||monosomy 21q22 C567767|613078||nijmegen breakage syndrome like disorder C567767|613078||microcephaly and spontaneous chromosome instability without immunodeficiency C567767|613078||nbsld C567767|613078||nbs like disorder C567767|613078||rad50 deficiency C563402||ichthyosis mental retardation syndrome with large keratohyalin granules in the skin C564733||trichothiodystrophy with sun sensitivity C538446||speech disturbance use of faulty phrasing and unrelated words C538445||clear cell metastatic renal cell carcinoma C538445||clear cell rcc C538445||cystic multilocular variant C537115||lenz majewski hyperostotic dwarfism C537115||delayed closure of fontanel proximal symphalangism prominent cutaneous veins mental retardation and progressive skeletal sclerosis C537115||multiple congenital anomalies mental retardation and progressive skeletal sclerosis D006505||hepatitis D006505||hepatitides C564731||xeroderma pigmentosum ix C564731||xeroderma pigmentosum complementation group i C564731||xp9 C564731||xp group i C538444||ctnl1 D006506||hepatitis a D006506||hepatitides infectious D006506||hepatitis infectious D006506||infectious hepatitides D006506||infectious hepatitis C564730||xylosidase deficiency C538443||restless legs syndrome 1 C563405||migraine sporadic hemiplegic D006504||hepatic veno occlusive disease D006504||disease hepatic veno occlusive D006504||hepatic veno occlusive diseases D006504||sinusoidal obstruction syndrome D006504||syndrome sinusoidal obstruction D006504||veno occlusive disease hepatic C564736||wolman disease with hypolipoproteinemia and acanthocytosis D007835||lassa fever D007835||fever lassa D007835||fevers lassa D007835||lassa fevers C536382|133780||exudative vitreoretinopathy 1 C536382|133780||criswick schepens syndrome C536382|133780||criswick schepens syndrome retinopathy of prematurity included C536382|133780||evr1 C536382|133780||exudative vitreoretinopathy familial autosomal dominant C536382|133780||fevr autosomal dominant C536382|133780||rop included D006501||hepatic encephalopathy D006501||coma hepatic D006501||comas hepatic D006501||encephalopathies hepatic D006501||encephalopathies hepatocerebral D006501||encephalopathies portal systemic D006501||encephalopathies portosystemic D006501||encephalopathy hepatic D006501||encephalopathy hepatocerebral D006501||encephalopathy portal systemic D006501||encephalopathy portosystemic D006501||fulminant hepatic failure with cerebral edema D006501||hepatic coma D006501||hepatic comas D006501||hepatic encephalopathies D006501||hepatic stupor D006501||hepatic stupors D006501||hepatocerebral encephalopathies D006501||hepatocerebral encephalopathy D006501||portal systemic encephalopathies D006501||portal systemic encephalopathy D006501||portosystemic encephalopathies D006501||portosystemic encephalopathy D006501||stupor hepatic D006501||stupors hepatic C564735||woolly hair autosomal recessive C563403||tibia absence or hypoplasia of with polydactyly retrocerebellar arachnoid cyst and other anomalies C564734||trichothiodystrophy type 1 C564739||vitiligo progressive with mental retardation and urethral duplication C563407||portal vein cavernous transformation of C564738|277470||pontocerebellar hypoplasia type 2a C564738|277470||pontocerebellar hypoplasia with progressive cerebral atrophy C564738|277470||volendam neurodegenerative disease D020819||perimeningeal infections D020819||infection parameningeal D020819||infection perimeningeal D020819||infections parameningeal D020819||infections perimeningeal D020819||parameningeal infection D020819||parameningeal infections D020819||perimeningeal infection D020818||neuroschistosomiasis D020818||central nervous system schistosomiasis D020818||myelitis schistosomal D020818||myelopathies schistosomal D020818||myelopathy schistosomal D020818||myeloradiculopathies schistosomal D020818||myeloradiculopathy schistosomal D020818||neuroschistosomiases D020818||schistosomal myelitis D020818||schistosomal myelopathies D020818||schistosomal myelopathy D020818||schistosomal myeloradiculopathies D020818||schistosomal myeloradiculopathy D020818||schistosomiasis central nervous system D020814||meningitis escherichia coli D020814||escherichia coli meningitides D020814||escherichia coli meningitis D020814||meningitides escherichia coli C537108||chromosome 21 monosomy C537108||monosomy 21 C538437||immuno hemolytic anemia C538437||familial auto immune hemolytic anemia C538436||auditory perceptual impairment C563363|601238||cerebellar ataxia cayman type C563363|601238||atcay C537709|608233||hermansky pudlak syndrome 2 C537709|608233||hps2 C537709|608233||platelet defects and oculocutaneous albinism C565193|610713||brachydactyly syndactyly syndrome C565193|610713||bdsd C537109||chromosome 21 ring C537109||ring 21 chromosome C537121||short stature syndrome brussels type C537121||mievis verellen dumoulin syndrome 248500|D008363||alpha mannosidosis 248500|D008363||alpha d mannosidase deficiencies lysosomal 248500|D008363||alpha d mannosidase deficiency lysosomal 248500|D008363||alpha d mannosidosis 248500|D008363||alpha mannosidase b deficiency 248500|D008363||alpha mannosidase deficiencies 248500|D008363||alpha mannosidase deficiency 248500|D008363||alpha mannosidoses 248500|D008363||alpha mannosidosis type i 248500|D008363||deficiencies alpha mannosidase 248500|D008363||deficiencies lysosomal alpha d mannosidase 248500|D008363||deficiency alpha mannosidase 248500|D008363||deficiency lysosomal alpha d mannosidase 248500|D008363||lysosomal alpha b mannosidosis 248500|D008363||lysosomal alpha d mannosidase deficiencies 248500|D008363||lysosomal alpha d mannosidase deficiency 248500|D008363||mannosidosis alpha b lysosomal 248500|D008363||mansa C537122||opsismodysplasia C563413||hydrocephalus skeletal anomalies and mental disturbance D007849||laurence moon syndrome D007849||laurence moon biedl syndrome D007849||syndrome laurence moon D007849||syndrome laurence moon biedl C538457||segmental glomerulosclerosis C538457||focal sclerosis with hyalinosis 211600|C535933||cholestasis progressive familial intrahepatic 1 211600|C535933||bric1 211600|C535933||byler disease 211600|C535933||byler apos s disease 211600|C535933||cholestasis benign recurrent intrahepatic 1 211600|C535933||cholestasis fatal intrahepatic 211600|C535933||fic1 deficiency 211600|C535933||pfic1 211600|C535933||progressive familial intrahepatic cholestasis 211600|C535933||progressive familial intrahepatic cholestasis type 1 pfic 1 211600|C535933||progressive familial intrahepatic cholestasis type 1 pfic1 211600|C535933||summerskill syndrome D007562|123400||creutzfeldt jakob syndrome D007562|123400||cjd D007562|123400||cjd creutzfeldt jakob disease D007562|123400||creutzfeldt jacob disease D007562|123400||creutzfeldt jakob disease D007562|123400||creutzfeldt jakob disease familial D007562|123400||creutzfeldt jakob disease familial creutzfeldt jakob disease sporadic included D007562|123400||creutzfeldt jakob disease heidenhain variant included D007562|123400||creutzfeldt jakob disease new variant D007562|123400||creutzfeldt jakob diseases familial D007562|123400||creutzfeldt jakob disease variant D007562|123400||creutzfeldt jakob disease variant included D007562|123400||disease creutzfeldt jacob D007562|123400||disease creutzfeldt jakob D007562|123400||disease familial creutzfeldt jakob D007562|123400||disease jakob creutzfeldt D007562|123400||encephalopathies subacute spongiform D007562|123400||encephalopathy subacute spongiform D007562|123400||familial creutzfeldt jakob disease D007562|123400||familial creutzfeldt jakob diseases D007562|123400||jacob disease creutzfeldt D007562|123400||jakob creutzfeldt disease D007562|123400||jakob creutzfeldt syndrome D007562|123400||new variant creutzfeldt jakob disease D007562|123400||scjd included D007562|123400||spongiform encephalopathies subacute D007562|123400||spongiform encephalopathy subacute D007562|123400||subacute spongiform encephalopathies D007562|123400||subacute spongiform encephalopathy D007562|123400||syndrome creutzfeldt jakob D007562|123400||syndrome jakob creutzfeldt D007562|123400||variant creutzfeldt jakob disease D007562|123400||vcjd included D007562|123400||v cjd variant creutzfeldt jakob disease D006519||hepatitis alcoholic D006519||alcoholic hepatitis D006519||alcoholic hepatitis chronic D006519||chronic alcoholic hepatitides D006519||chronic alcoholic hepatitis D006519||hepatitis alcoholic chronic C564742||chondrodysplasia punctata with coagulation factor deficiency C563414||cardiac malformation cleft lip palate microcephaly and digital anomalies C537774|601202||anterior polar cataract 2 C537774|601202||cataract 24 C537774|601202||cataract 24 anterior polar C537774|601202||cataract anterior polar 2 C537774|601202||ctaa2 C537774|601202||ctrct24 C563661|610805||renal hypodysplasia nonsyndromic 1 C563661|610805||congenital anomalies of kidney and urinary tract susceptibility to C563661|610805||rhdns1 D007842||lathyrism D007842||neurolathyrism D020809||central nervous system helminthiasis D020809||cerebral helminthiasis D020809||helminthiasis central nervous system D020809||helminthiasis cerebral D020808||central nervous system protozoal infections D020808||amebic meningoencephalitides D020808||amebic meningoencephalitis D020808||cerebral protozoal infection D020808||cerebral protozoal infections D020808||infection central nervous system protozoal D020808||infection cerebral protozoal D020808||infections cerebral protozoal D020808||infections protozoal central nervous system D020808||meningoencephalitides amebic D020808||meningoencephalitides protozoal D020808||meningoencephalitis amebic D020808||meningoencephalitis protozoal D020808||protozoal infection cerebral D020808||protozoal infections central nervous system D020808||protozoal infections cerebral D020808||protozoal meningoencephalitides D020808||protozoal meningoencephalitis D020807||central nervous system parasitic infections D020807||infections central nervous system parasitic D020807||infections parasitic central nervous system D020807||parasitic infections central nervous system D020806||central nervous system bacterial infections D020806||bacterial infections central nervous system D020806||infections bacterial central nervous system D020805||central nervous system viral diseases D020805||central nervous system viral infections D020805||cns infections viral D020805||cns infection viral D020805||infections cns viral D020805||infections viral cns D020805||infection viral cns D020805||viral cns infection D020805||viral cns infections D020805||viral diseases central nervous system D020805||viral infections central nervous system D020804||encephalitis varicella zoster D020804||encephalitis herpes zoster D020804||encephalitis human herpesvirus 3 D020804||encephalitis varicella D020804||encephalitis vz virus D020804||herpes zoster encephalitis D020804||herpes zoster meningoencephalitis D020804||meningoencephalitis herpes zoster D020804||varicella encephalitides D020804||varicella encephalitis D020804||varicella zoster encephalitis D020804||virus encephalitis vz D020804||zoster encephalitis herpes D020804||zoster encephalitis varicella D020802||epidural abscess D020802||abscess cranial epidural D020802||abscess cranial extradural D020802||abscess epidural D020802||abscesses intracranial extradural D020802||abscess extradural D020802||abscess intracranial epidural D020802||abscess intracranial extradural D020802||abscess spinal epidural D020802||abscess spinal extradural D020802||cranial epidural abscess D020802||cranial extradural abscess D020802||epidural abscess cranial D020802||epidural abscess intracranial D020802||epidural abscess spinal D020802||extradural abscess D020802||extradural abscesses intracranial D020802||extradural abscess intracranial D020802||extradural abscess spinal D020802||intracranial epidural abscess D020802||intracranial extradural abscess D020802||intracranial extradural abscesses D020802||spinal epidural abscess D020802||spinal extradural abscess C537118||leri pleonosteosis C537118||leri apos s pleonosteosis C537118||leri type pleonosteosis 300259||mycobacterium tuberculosis susceptibility to x linked 300259||mtbsx C537133||orofaciodigital syndrome 4 C537133||baraitser burn syndrome C537133||ofd syndrome baraitser burn type C537133||ofd syndrome with tibial defects C537133||oral facial digital syndrome type iv C537133||orofaciodigital syndrome iv C537133||orofaciodigital syndrome with tibial dysplasia D007818||laryngeal diseases D007818||disease laryngeal D007818||disease larynx D007818||diseases laryngeal D007818||diseases larynx D007818||laryngeal disease D007818||laryngeal perichondritides D007818||laryngeal perichondritis D007818||larynx disease D007818||larynx diseases D007818||perichondritides laryngeal D007818||perichondritis laryngeal 608264|C564266||deafness autosomal recessive 40 608264|C564266||dfnb40 C537130||optic nerve hypoplasia familial bilateral C537130||familial bilateral optic nerve hypoplasia D007819||laryngeal edema D007819||edema laryngeal D007819||edemas laryngeal D007819||laryngeal edemas C537131||orbital lymphoma C537131||lymphoma of the orbit C537131||primary orbital lymphoma D011081||polychondritis relapsing D011081||atrophic polychondritides chronic D011081||atrophic polychondritis chronic D011081||chronic atrophic polychondritides D011081||chronic atrophic polychondritis D011081||polychondritides chronic atrophic D011081||polychondritides relapsing D011081||polychondritis chronic atrophic D011081||relapsing polychondritides D011081||relapsing polychondritis D007816||larva migrans visceral D007816||larva migran visceral D007816||migrans visceral larva D007816||migran visceral larva D007816||visceral larva migran D007816||visceral larva migrans D007816||visceral larva migrans syndrome C537137||orstavik lindemann solberg syndrome C537137||congenital heart defects hamartomas of tongue and polysyndactyly D007815||larva migrans D007815||creeping eruption D007815||creeping eruptions D007815||cutaneous larva migrans D007815||dew itch D007815||dew itchs D007815||eruption creeping D007815||eruptions creeping D007815||ground itch D007815||ground itchs D007815||itch dew D007815||itch ground D007815||itchs dew D007815||itchs ground D007815||larva migrans cutaneous D007815||larva migrans ocular D007815||ocular larva migrans C538465||hla class 1 deficiency C564714||spondyloepimetaphyseal dysplasia x linked C564714||semd x linked C564712||mental retardation x linked with isolated growth hormone deficiency C563614|613688||long qt syndrome 2 C563614|613688||long qt syndrome 1 2 digenic included lqt1 2 digenic included C563614|613688||long qt syndrome 2 acquired susceptibility to included C563614|613688||lqt2 C564716||x inactivation familial skewed 1 C537710|153400||lymphedema distichiasis syndrome C537710|153400||hereditary lymphedema distichiasis syndrome C537710|153400||lymphedema with distichiasis C537710|153400||lymphedema with distichiasis lymphedema distichiasis syndrome with renal disease and diabetes mellitus included D007926|300322||lesch nyhan syndrome D007926|300322||choreoathetosis self mutilation hyperuricemia syndrome D007926|300322||choreoathetosis self mutilation syndrome D007926|300322||choreoathetosis self mutilation syndromes D007926|300322||complete hgprt deficiency disease D007926|300322||complete hprt deficiencies D007926|300322||complete hprt deficiency D007926|300322||complete hypoxanthine guanine phosphoribosyltransferase deficiency D007926|300322||deficiencies complete hprt D007926|300322||deficiencies hgprt D007926|300322||deficiencies hypoxanthine phosphoribosyltransferase D007926|300322||deficiencies total hprt D007926|300322||deficiency complete hprt D007926|300322||deficiency disease complete hgprt D007926|300322||deficiency disease hypoxanthine phosphoribosyl transferase D007926|300322||deficiency diseases hypoxanthine phosphoribosyl transferase D007926|300322||deficiency hgprt D007926|300322||deficiency hypoxanthine phosphoribosyltransferase D007926|300322||deficiency of guanine phosphoribosyltransferase D007926|300322||deficiency of hypoxanthine phosphoribosyltransferase D007926|300322||deficiency total hprt D007926|300322||guanine phosphoribosyltransferase deficiencies D007926|300322||guanine phosphoribosyltransferase deficiency D007926|300322||hgprt deficiencies D007926|300322||hgprt deficiency D007926|300322||hgprt deficiency disease complete D007926|300322||hprt1 deficiency D007926|300322||hprt deficiencies complete D007926|300322||hprt deficiencies total D007926|300322||hprt deficiency D007926|300322||hprt deficiency complete D007926|300322||hprt deficiency complete hprt deficiency neurologic variant included D007926|300322||hprt deficiency total D007926|300322||hyperuricemias x linked D007926|300322||hyperuricemias x linked primary D007926|300322||hyperuricemia syndrome juvenile D007926|300322||hyperuricemia syndrome primary D007926|300322||hyperuricemia syndromes juvenile D007926|300322||hyperuricemia syndromes primary D007926|300322||hyperuricemia x linked D007926|300322||hyperuricemia x linked primary D007926|300322||hypoxanthine guanine phosphoribosyltransferase 1 deficiency D007926|300322|300323||hypoxanthine guanine phosphoribosyltransferase deficiency D007926|300322||hypoxanthine phosphoribosyltransferase deficiencies D007926|300322||hypoxanthine phosphoribosyltransferase deficiency D007926|300322||hypoxanthine phosphoribosyl transferase deficiency disease D007926|300322||hypoxanthine phosphoribosyl transferase deficiency diseases D007926|300322||juvenile gout choreoathetosis mental retardation syndrome D007926|300322||juvenile hyperuricemia syndrome D007926|300322||juvenile hyperuricemia syndromes D007926|300322||lesch nyhan disease D007926|300322||lesch nyhan syndrome neurologic variant included D007926|300322||lns D007926|300322||phosphoribosyltransferase deficiencies guanine D007926|300322||phosphoribosyltransferase deficiencies hypoxanthine D007926|300322||phosphoribosyltransferase deficiency guanine D007926|300322||phosphoribosyltransferase deficiency hypoxanthine D007926|300322||primary hyperuricemias x linked D007926|300322||primary hyperuricemia syndrome D007926|300322||primary hyperuricemia syndromes D007926|300322||primary hyperuricemia x linked D007926|300322||self mutilation syndrome choreoathetosis D007926|300322||self mutilation syndromes choreoathetosis D007926|300322||syndrome choreoathetosis self mutilation D007926|300322||syndrome juvenile hyperuricemia D007926|300322||syndrome primary hyperuricemia D007926|300322||syndromes choreoathetosis self mutilation D007926|300322||syndromes juvenile hyperuricemia D007926|300322||syndromes primary hyperuricemia D007926|300322||total hprt deficiencies D007926|300322||total hprt deficiency D007926|300322||total hypoxanthine guanine phosphoribosyl transferase deficiency D007926|300322||x linked hyperuricemia D007926|300322||x linked hyperuricemias D007926|300322||x linked primary hyperuricemia D007926|300322||x linked primary hyperuricemias C538459||ovarian gynandroblastoma C538458||rapidly progressive glomerulonephritis with pulmonary hemorrhage C538458||anti glomerular basement membrane antibody disease C538458||glomerulonephritis pulmonary hemorrhage C538458||pulmonary renal syndrome C563353|601317||deafness autosomal dominant 11 C563353|601317||dfna11 C538475||double cortex 607864|C564315||caudal duplication anomaly C537144||osteoarthropathy of fingers familial C537144||thiemann epiphyseal disease C537144||thiemann apos s disease D007829||laryngostenosis D007829||acquired laryngeal stenoses D007829||acquired laryngeal stenosis D007829||acquired subglottic stenoses D007829||acquired subglottic stenosis D007829||congenital subglottic stenoses D007829||congenital subglottic stenosis D007829||laryngeal stenoses D007829||laryngeal stenoses acquired D007829||laryngeal stenosis D007829||laryngeal stenosis acquired D007829||laryngostenoses D007829||stenoses acquired laryngeal D007829||stenoses acquired subglottic D007829||stenoses congenital subglottic D007829||stenoses laryngeal D007829||stenosis acquired laryngeal D007829||stenosis acquired subglottic D007829||stenosis congenital subglottic D007829||stenosis laryngeal D007829||subglottic stenoses acquired D007829||subglottic stenoses congenital D007829||subglottic stenosis acquired D007829||subglottic stenosis congenital C537142||ossicular malformations familial C537142||familial middle ear ossicular anomalies C537142||familial ossicular malformations C564722||subcortical band heterotopia x linked D007827||laryngitis D007827||laryngitides C564721||cardiomyopathy dilated 3a C564721||cardiomyopathy dilated x linked fatal infantile C537148||hypodontia x linked C537148||x linked hypodontia D007826||laryngismus D007826||laryngeal spasm D007826||laryngeal spasms D007826||laryngospasm D007826||laryngospasms D007826||spasm laryngeal D007826||spasms laryngeal C564725||heterotopia periventricular nodular with frontometaphyseal dysplasia D004387|126900||dupuytren contracture D004387|126900||contracture dupuytren D004387|126900||contracture dupuytren apos s D004387|126900||dupc1 included D004387|126900||dupuytren contracture 1 included D004387|126900||dupuytren disease D004387|126900||dupuytren apos s contracture D004387|126900||dupuytrens contracture D004387|126900||dupuytren apos s disease D004387|126900||dupuytrens disease D004387|126900||plantar fibromas included D004387|126900||plantar fibromatosis familial included C536863|609727||spastic paraplegia 29 autosomal dominant C536863|609727||spg29 D007822||laryngeal neoplasms D007822||cancer laryngeal D007822||cancer larynx D007822||cancer of larynx D007822||cancer of the larynx D007822||cancers laryngeal D007822||cancers larynx D007822||laryngeal cancer D007822||laryngeal cancers D007822||laryngeal neoplasm D007822||larynx cancer D007822||larynx cancers D007822||larynx neoplasm D007822||larynx neoplasms D007822||neoplasm laryngeal D007822||neoplasm larynx D007822||neoplasms laryngeal D007822||neoplasms larynx C564729||ichthyosis x linked without steroid sulfatase deficiency 605258|D053306||hyper igm immunodeficiency syndrome 605258|D053306||higm2 605258|D053306||higm2 syndrome 605258|D053306||higm2 syndromes 605258|D053306||higm3 605258|D053306||higm3 syndrome 605258|D053306||higm3 syndromes 605258|D053306||higm5 605258|D053306||higm5 syndrome 605258|D053306||higm5 syndromes 605258|D053306||hyper igm immunodeficiency syndromes 605258|D053306||hyper igm immunodeficiency syndrome type 2 605258|D053306||hyper igm immunodeficiency syndrome type 3 605258|D053306||hyper igm immunodeficiency syndrome type 5 605258|D053306||hyper igm syndrome 2 605258|D053306||hyper igm syndrome 3 605258|D053306||hyper igm syndrome 5 605258|D053306||hyper igm syndrome 5s 605258|D053306||hyper igm syndromes 605258|D053306||immunodeficiency syndrome hyper igm 605258|D053306||immunodeficiency syndromes hyper igm 605258|D053306||immunodeficiency with hyper igm syndrome 605258|D053306||immunodeficiency with hyper igm type 2 605258|D053306||immunodeficiency with hyper igm type 3 605258|D053306||immunodeficiency with hyper igm type 5 605258|D053306||syndrome hyper igm immunodeficiency 605258|D053306||syndromes hyper igm immunodeficiency C563890|608641||deafness autosomal dominant 28 C563890|608641||dfna28 C536425|119100||split hand foot malformation with long bone deficiency C536425|119100||aplasia of tibia with ectrodactyly C536425|119100||cleft hand absent tibia C536425|119100||cleft hand and absent tibia C536425|119100||ectrodactyly with aplasia of long bones C536425|119100||shfld C536425|119100||shfld1 C536425|119100||split hand foot malformation with long bone deficiency 1 C536425|119100||tibial aplasia with split hand split foot deformity C564516|300423||mental retardation x linked with epilepsy C564516|300423||mental retardation x linked syndromic hedera type C564516|300423||mrxe C564516|300423||mrxsh 608716||microcephaly 5 primary autosomal recessive 608716||mcph5 C537138||oslam syndrome D011086||polycythemia D011086||erythrocytoses D011086||erythrocytosis D011086||polycythemias 133700||ext 133700||ext1 300534|C564494||mental retardation x linked syndromic jarid1c related 300534|C564494||mental retardation x linked syndromic claes jensen type 300534|C564494||mrxscj 300534|C564494||mrxsj 133701||ext2 D011180||postmortem changes D011180||adipocere D011180||algor mortis D011180||change postmortem D011180||changes postmortem D011180||cruor D011180||livor mortis D011180||postmortem change C564810||spastic paraplegia with myoclonic epilepsy C538523||free sialic acid storage disease C538523||n acetylneuraminic acid nana storage disease nsd C538521||bilateral temporal lobe disorder C538521||memory loss extreme sexual behavior placidity and visual distractibility C538521||post encephalitic kluver bucy syndrome C538521||post traumatic kluver bucy syndrome D007911||lentigo D007911||lentigines D007911||lentiginoses D007911||lentiginosis D007911||lentigos C564817||insulin like growth factor i resistance to due to increased binding protein D061325||hereditary breast and ovarian cancer syndrome D061325||hboc syndrome D061325||hboc syndromes D061325||syndrome hboc D061325||syndromes hboc C564815||spastic ataxia C535698|601887||malignant hyperthermia susceptibility type 5 C535698|601887||malignant hyperpyrexia susceptibility type 5 C535698|601887||malignant hyperthermia susceptibility to 5 C535698|601887||mhs5 C567091||skin hair eye pigmentation variation in 9 C567091||shep9 C567091||skin hair eye pigmentation 9 brown nonbrown eyes C567091||skin hair eye pigmentation 9 dark light hair C567091||skin hair eye pigmentation 9 freckling and burning C567091||skin hair eye pigmentation 9 red nonred hair C536736|189500||witkop syndrome C536736|189500||dysplasia of nails with hypodontia C536736|189500||ectd3 C536736|189500||ectodermal dysplasia 3 tooth nail type C536736|189500||ectodermal dysplasia 3 witkop type C536736|189500||nail dysplasia with hypodontia C536736|189500||tns C536736|189500||tooth and nail syndrome C567203|612674||polyneuropathy hearing loss ataxia retinitis pigmentosa and cataract C567203|612674||pharc C567093||short stature facial dysmorphism severe brachydactyly and syndactyly C567093||dauwerse peters syndrome C564819||skeletal dysplasia with telangiectases and mesodermal dysgenesis of the iris D010001|167250||osteitis deformans D010001|167250||osseous paget apos s disease D010001|167250||paget disease bone D010001|167250|C538098||paget disease of bone D010001|167250||paget disease of bone 1 D010001|167250||pagets disease bone D010001|167250||paget apos s disease of bone D010001|167250||pdb D010001|167250||pdb1 C580055||early onset glaucoma C580055||hereditary glaucoma C567099||mucolipidosis iii alpha beta atypical C567095||epilepsy progressive myoclonic 3 300614|C564472||deafness x linked 5 300614|C564472||auditory neuropathy x linked 1 with peripheral sensory neuropathy 300614|C564472||aunx1 300614|C564472||dfnx5 D011178||postgastrectomy syndromes D011178||postgastrectomy syndrome D011178||syndrome postgastrectomy D011178||syndromes postgastrectomy C567096||skin hair eye pigmentation variation in 8 C567096||shep8 C567096||skin hair eye pigmentation 8 freckling 300367||thrombocytopenia x linked with or without dyserythropoietic anemia 300367||xltda C538400|601680||distal arthrogryposis type 2b C538400|601680||arthrogryposis distal type 2b C538400|601680||arthrogryposis multiplex congenita distal type 2b C538400|601680||arthrogryposis multiplex congenita distal type ii with craniofacial abnormalities C538400|601680||arthrogryposis multiplex congenita type 2b C538400|601680||da2b C538400|601680||freeman sheldon syndrome variant C538400|601680||fssv C538400|601680||sheldon hall syndrome D011191||potassium deficiency D011191||deficiencies potassium D011191||deficiency potassium D011191||potassium deficiencies C564821||short stature obesity syndrome C538534||hypogonadotropic hypogonadism and anosmia autosomal dominant C538533||juvenile giant cell arteritis C538533||juvenile cranial arteritis C538533||juvenile polymyalgia rheumatica D007925||leriche syndrome D007925||leriche apos s syndrome D007925||leriches syndrome D007925||syndrome leriche D007925||syndrome leriche apos s D007922||leptospirosis D007922||leptospiroses C564825||sandhoff disease adult type C564824||second metatarsal metacarpal syndrome C564823||epilepsy benign neonatal autosomal recessive C564823||convulsions benign familial neonatal autosomal recessive C564823||seizures benign familial neonatal autosomal recessive C564829||rod cone dystrophy sensorineural deafness and fanconi type renal dysfunction C564827||sandhoff disease infantile type C564826||sandhoff disease juvenile type C567292|612469||wilms tumor aniridia genitourinary anomalies mental retardation and obesity syndrome C567292|612469||chromosome 11p13 p12 deletion syndrome C567292|612469||wagro C567292|612469||wagro syndrome C567292|612469||wagr syndrome with obesity 121700||corneal endothelial dystrophy 1 autosomal dominant 121700||ched 121700||ched1 C566464|609637||holoprosencephaly 5 C566464|609637||hpe5 612318|C563016||pseudofolliculitis barbae 612318|C563016||ingrown hairs 612318|C563016||pfb 612318|C563016||pili incarnati D011183||postoperative complications D011183||complication postoperative D011183||complications postoperative D011183||postoperative complication C537806|203400||18 hydroxylase deficiency C537806|203400||18 alpha hydroxylase deficiency C537806|203400||18 oxidase deficiency C537806|203400||aldosterone deficiency 1 C537806|203400||aldosterone deficiency due to defect in 18 hydroxylase C537806|203400||aldosterone deficiency due to defect in steroid 18 hydroxylase C537806|203400||aldosterone deficiency due to deficiency of steroid 18 oxidase C537806|203400||aldosterone deficiency i C537806|203400||aldosterone deficiency ii C537806|203400||aldosterone deficiency type i C537806|203400||aldosterone deficiency type ii C537806|203400||cmo i deficiency C537806|203400||cmo ii deficiency C537806|203400||corticosterone methyloxidase type 1 deficiency C537806|203400||corticosterone methyloxidase type i deficiency C537806|203400||corticosterone methyloxidase type ii deficiency C537806|203400||fhha1a C537806|203400||fhha1b C537806|203400||hyperreninemic hypoaldosteronism familial 1 C537806|203400||hyperreninemic hypoaldosteronism familial type i C537806|203400||steroid 18 hydroxylase deficiency C537806|203400||steroid 18 oxidase deficiency D011186||postphlebitic syndrome D011186||disease postphlebitic D011186||diseases postphlebitic D011186||postphlebitic disease D011186||postphlebitic diseases D011186||postphlebitic syndromes D011186||postphlebitic ulcer D011186||postphlebitic ulcers D011186||syndrome postphlebitic D011186||syndromes postphlebitic D011186||ulcer postphlebitic D011186||ulcers postphlebitic C538525||mitochondrial encephalopathy D011185||postpericardiotomy syndrome D011185||postcommissurotomy syndrome D011185||postcommissurotomy syndromes D011185||postpericardiotomy syndromes D011185||syndrome postcommissurotomy D011185||syndrome postpericardiotomy D011185||syndromes postcommissurotomy D011185||syndromes postpericardiotomy C580065||episodic ataxia C566510|609597||parietal foramina 2 C566510|609597||pfm2 C580062||epidermal nevus C580062||epidermal naevus 400042|C537587||sertoli cell only syndrome y linked 400042|C537587||hypospermatogenesis included 400042|C537587||incomplete sertoli cell only syndrome included 400042|C537587||sertoli cell only syndrome type 1 400042|C537587||sertoli cell only syndrome type i 400042|C537587||sertoli cell only syndrome type i sertoli cell only syndrome type ii included 400042|C537587||spermatogenic failure y linked 1 400042|C537587||spgfy1 C538540||hirschsprung disease 1 C538540||hirschsprung disease type 1 108721||ao3 109720|D008105||liver cirrhosis biliary 109720|D008105||biliary cirrhosis 109720|D008105||biliary cirrhosis primary 109720|D008105||biliary cirrhosis primary 1 109720|D008105||biliary cirrhosis primary 4 109720|D008105||biliary cirrhosis primary 5 109720|D008105||biliary cirrhosis secondary 109720|D008105||cholangitis chronic nonsuppurative destructive 109720|D008105||cirrhosis biliary 109720|D008105||cirrhosis secondary biliary 109720|D008105||liver cirrhoses biliary 109720|D008105||liver cirrhosis obstructive 109720|D008105||obstructive liver cirrhosis 109720|D008105||pbc 109720|D008105||pbc1 109720|D008105||pbc4 109720|D008105||pbc5 109720|D008105||primary biliary cirrhosis 109720|D008105||secondary biliary cirrhosis C537213||kohlschutter tonz syndrome C537213||epilepsy and yellow teeth C537213||epilepsy dementia amelogenesis imperfecta C537213||epilepsy dementia and amelogenesis imperfecta C537213||kohlschutter syndrome C538544||familial primary biliary cirrhosis C537214||konigsmark knox hussels syndrome C537214||deafness optic atrophy syndrome C537214||dominant congenital deafness and progressive optic nerve atrophy C567069||mental retardation x linked with brachydactyly and macroglossia C567069|300354||cabezas syndrome C567069|300354||cabezas x linked mental retardation syndrome C567069|300354||mental retardation x linked syndromic 15 C567069||mental retardation x linked with short stature small testes muscle wasting and tremor C567069|300354||mrxs15 300337||hypomelanosis of ito 300337||hmi 300337||incontinentia pigmenti type i formerly 300337||ip1 formerly 300337||ipa 300337||ito 300337||ito hypomelanosis C538543||preeclamptic toxemia C537211||kocher debre semelaigne syndrome C537211||kocher debre semelaigne disease C566582|602088||nephronophthisis 2 C566582|602088||nephronophthisis infantile C566582|602088||nph2 C566582|602088||nphp2 C538542||sexual precocity C538542||familial precocious puberty C538542||idiopathic sexual precocity 277470||pch2 277470||pch2a D016471|608115||ovarian hyperstimulation syndrome D016471|608115||hyperstimulation syndrome ovarian D016471|608115||hyperstimulation syndromes ovarian D016471|608115||ohss D016471|608115||ovarian hyperstimulation syndrome familial gestational spontaneous D016471|608115||ovarian hyperstimulation syndromes C580039||deoxyguanosine kinase deficiency C580039||dguok related mitochondrial dna depletion syndrome C580039||hepatocerebral mitochondrial dna depletion syndrome C580039||mitochondrial dna depletion syndrome hepatocerebral form C537454|300062||mental retardation x linked 14 C537454|300062||mental retardation x linked nonspecific type 14 C537454|300062||mrx14 D011151||popliteal cyst D011151||baker cyst D011151||baker cysts D011151||baker apos s cyst D011151||cyst baker D011151||cyst popliteal D011151||cysts baker D011151||cysts popliteal D011151||popliteal cysts C567077||acquired protein s deficiency C565071|129150||echo virus 11 sensitivity C565071|129150||e11s C567076||17 20 lyase deficiency isolated C567076||17 alpha hydroxylase 17 20 lyase deficiency combined complete C567076||17 alpha hydroxylase 17 20 lyase deficiency combined partial D012481||salmonella infections animal D012481||animal salmonella infection D012481||animal salmonella infections D012481||infection animal salmonella D012481||infections animal salmonella D012481||salmonella infection animal C567079||deafness unilateral D012488||salpingitis D012488||salpingitides C537208||kniest like dysplasia lethal C537208||arthrosis flat face hypotonia short neck and macrocephaly C537208||lethal kniest like dysplasia D007906||lens subluxation D007906||dislocation lens D007906||dislocations lens D007906||lens dislocation D007906||lens dislocation and subluxation D007906||lens dislocations D007906||lens subluxations D007906||subluxation lens D007906||subluxations lens C538550||subvalvular aortic stenosis eisenberg type C537224||sacral plexopathy D007905||lens diseases D007905||disease lens D007905||diseases lens D007905||lens disease C537225||sacrococcygeal dysgenesis association C538554||diminished galc activity C537222||sacral hemangiomas multiple congenital abnormalities C538553||familial subependymomas C537223||sacral meningocele conotruncal heart defects C537223||kousseff syndrome C564802||spinocerebellar ataxia with dysmorphism C564807||spinal muscular atrophy with mental retardation D013494|601104||supranuclear palsy progressive D013494|601104||ophthalmoplegia progressive supranuclear D013494|601104||palsy progressive supranuclear D013494|601104||progressive supranuclear ophthalmoplegia D013494|601104||progressive supranuclear palsies D013494|601104||progressive supranuclear palsy D013494|601104||psnp1 D013494|601104||richardson apos s syndrome D013494|601104||richardson syndrome D013494|601104||steele richardson olszewski disease D013494|601104||steele richardson olszewski syndrome D013494|601104||supranuclear ophthalmoplegia progressive D013494|601104||supranuclear palsies progressive D013494|601104||supranuclear palsy progressive 1 D013494|601104||syndrome richardson apos s D013494|601104||syndrome steele richardson olszewski C564806||spinal muscular atrophy with microcephaly and mental subnormality C564805||spinal muscular atrophy type i with congenital bone fractures C536446|218000||corpus callosum agenesis neuronopathy C536446|218000||accpn C536446|218000||agenesis of corpus callosum with neuronopathy C536446|218000||agenesis of corpus callosum with peripheral neuropathy C536446|218000||agenesis of corpus callosum with polyneuropathy C536446|218000||agenesis of the corpus callosum with peripheral neuropathy C536446|218000||andermann syndrome C536446|218000||charlevoix disease C536446|218000||corpus callosum agenesis of with neuronopathy C536446|218000||hereditary motor and sensory neuropathy with agenesis of the corpus callosum C536446|218000||polyneuropathy sensorimotor with or without agenesis of the corpus callosum C567080||warfarin sensitivity 188890||tobacco addiction susceptibility to 188890||cigarette habituation susceptibility to 188890||nicotine addiction susceptibility to 188890||nicotine dependence susceptibility to 188890||smoking habit susceptibility to C564809||spastic paresis glaucoma and mental retardation C564808||spastic quadriplegia retinitis pigmentosa and mental retardation C567509|611875||brugada syndrome 3 C567509|611875||brgda3 C580044||distal hereditary motor neuropathy type ii C580044||distal hereditary motor neuronopathy type ii C562770|274800||thyroid dyshormonogenesis 4 C562770|274800||deiodinase deficiency C562770|274800||hypothyroidism congenital due to dyshormonogenesis 4 C562770|274800||iodotyrosine dehalogenase deficiency C562770|274800||tdh4 C562770|274800||thyroid hormonogenesis genetic defect in 4 D011164||porphyrias D011164||disorder porphyrin D011164||disorders porphyrin D011164||porphyria D011164||porphyrin disorder D011164||porphyrin disorders C564506|300489||spinal muscular atrophy distal x linked 3 C564506|300489||dsmax C564506|300489||smax3 C564506|300489||spinal muscular atrophy distal x linked recessive 187601|C536508||thanatophoric dysplasia type 2 187601|C536508||cloverleaf skull with thanatophoric dwarfism 187601|C536508||td2 187601|C536508||thanatophoric dysplasia type ii 187601|C536508||thanatophoric dysplasia with kleeblattschaedel 187601|C536508||thanatophoric dysplasia with straight femurs and cloverleaf skull C566500|609634||migraine familial hemiplegic 3 C566500|609634||fhm3 300354||mental retardation x linked with short stature hypogonadism and abnormal gait 300354||mrxsc 300351||graves disease susceptibility to x linked 1 300351||grdx1 graves disease susceptibility to x linked 2 included 300351||grdx2 included C564702|606483||charcot marie tooth disease dominant intermediate a C564702|606483||charcot marie tooth neuropathy dominant intermediate a C564702|606483||cmtdia C564702|606483||di cmta C537219||sackey sakati aur syndrome C537219||aur syndrome C537219||multiple dysmorphic features and pancytopenia C537219||pancytopenia multiple congenital anomalies 608265|C564265||deafness autosomal recessive 39 608265|C564265||dfnb39 C567049||pulmonary alveolar proteinosis acquired C567049||pulmonary alveolar lipoproteinosis acquired C567049||pulmonary alveolar proteinosis autoimmune D059041||plagiocephaly D059041||plagiocephalies C563513|163800||sick sinus syndrome 2 autosomal dominant C563513|163800||atrial fibrillation with bradyarrhythmia C563513|163800||sinus bradycardia syndrome familial autosomal dominant C563513|163800||sinus node disease familial autosomal dominant C563513|163800||sss2 C563513|163800||sss autosomal dominant D013798||thecoma D013798||theca cell tumor D013798||theca cell tumors D013798||thecomas D013798||tumors theca cell D013798||tumor theca cell D012467||salivary gland fistula D012467||fistula salivary gland D012467||fistulas salivary gland D012467||gland fistula salivary D012467||gland fistulas salivary D012467||salivary gland fistulas C580017||congenital plasminogen deficiency C580017||hypoplasminogenemia D012468||salivary gland neoplasms D012468||cancer of salivary gland D012468||cancer of the salivary gland D012468||cancer salivary gland D012468||cancers salivary gland D012468||gland neoplasm salivary D012468||gland neoplasms salivary D012468||neoplasm salivary gland D012468||neoplasms salivary gland D012468||salivary gland cancer D012468||salivary gland cancers D012468||salivary gland neoplasm C536370|206700||aniridia cerebellar ataxia mental deficiency C536370|206700||aniridia cerebellar ataxia and mental deficiency C536370|206700||aniridia cerebellar ataxia and mental retardation C536370|206700||aniridia partial cerebellar ataxia mental retardation C536370|206700||aniridia partial cerebellar ataxia oligophrenia C536370|206700||gillespie syndrome C580013||congenital hepatic fibrosis C580013||congenital fibrose liver C580011||congenital myopathy with fiber type disproportion C567055||sakoda complex C567055||sakoda spectrum C567055||sphenoethmoidal encephalomeningocele agenesis of the corpus callosum and cleft lip palate C580012||congenital fibrosis of the extraocular muscles C580012||cfeom C580012||congenital external ophthalmoplegia C580012||congenital fibrosis of extraocular muscles C580012||congenital fibrosis syndrome C580012||general fibrosis syndrome C567351|612310||premature ovarian failure 6 C567351|612310||pof6 D013796||thanatophoric dysplasia D013796||dwarfisms thanatophoric D013796||dwarfism thanatophoric D013796||dysplasias thanatophoric D013796||dysplasia thanatophoric D013796||thanatophoric dwarfism D013796||thanatophoric dwarfisms D013796||thanatophoric dysplasias D013796||thanatophoric short stature D012465||salivary duct calculi D012465||calculi salivary duct D012465||calculus salivary duct D012465||duct calculi salivary D012465||duct calculus salivary D012465||duct stone salivary D012465||duct stones salivary D012465||parotid duct calculi D012465||salivary duct calculus D012465||salivary duct stone D012465||salivary duct stones D012465||sialolithiases ductal D012465||sialolithiasis ductal D012465||stone salivary duct D012465||stones salivary duct D012465||submandibular duct calculi C535576|314400||cardiac valvular dysplasia x linked C535576|314400||cvd1 C535576|314400||myxomatous valvular dystrophy x linked C535576|314400||valvular heart disease congenital C535576|314400||xmvd D012466||salivary gland diseases D012466||disease salivary gland D012466||diseases salivary gland D012466||gland disease salivary D012466||gland diseases salivary D012466||salivary gland disease D012480||salmonella infections D012480||infection salmonella D012480||infections salmonella D012480||salmonella infection D012480||salmonelloses D012480||salmonellosis C562851|601152||hereditary motor and sensory neuropathy vi C562851|601152||charcot marie tooth disease type 6 C562851|601152||cmt6 C562851|601152||hmsn6 C562851|601152||hmsn vi C562851|601152||hsmn6 C562851|601152||neuropathy hereditary motor and sensory type vi C562851|601152||peripheral neuropathy and optic atrophy C537384|607855||muscular dystrophy congenital merosin negative C537384|607855||mdc1a C537384|607855||merosin deficient congenital muscular dystrophy C537384|607855||merosin negative congenital muscular dystrophy C537384|607855||muscular dystrophy congenital merosin deficient C537384|607855||muscular dystrophy congenital merosin deficient 1a C537384|607855||muscular dystrophy congenital merosin deficient muscular dystrophy congenital due to partial lama2 deficiency included D062688||buschke lowenstein tumor D062688||anogenital type verrucous carcinoma D062688||buschke l 246 wenstein tumor D062688||condyloma acuminatum giant D062688||condyloma acuminatums giant D062688||giant condyloma acuminatum D062688||giant condyloma acuminatums D062688||giant condyloma of buschke and lowenstein D062688||giant condyloma of buschke and l 246 wenstein D062688||lowenstein tumor buschke D062688||l 246 wenstein tumor buschke D062688||tumor buschke lowenstein D062688||tumor buschke l 246 wenstein D062689||lipoblastoma D062689||lipoblastomas D062689||lipoblastomatoses D062689||lipoblastomatosis C536492|605472||usher syndrome type 2c C536492|605472||ush2c C536492|605472||usher syndrome type iib formerly included ush2b formerly included C536492|605472||usher syndrome type iic C536492|605472||usher syndrome type iic gpr98 pdzd7 digenic included C538159|236700||mckusick kaufman syndrome C538159|236700||hmcs C538159|236700||hydrometrocolpos postaxial polydactyly and congenital heart malformation C538159|236700||hydrometrocolpos syndrome C538159|236700||kaufman mckusick syndrome C538159|236700||mkks D012478||salmonella food poisoning D012478||food poisoning salmonella D012478||food poisonings salmonella D012478||poisoning salmonella food D012478||poisonings salmonella food D012478||salmonella food poisonings C535535|601631||iridogoniodysgenesis type1 C535535|601631||glaucoma iridogoniodysplasia familial included C535535|601631||irid1 C535535|601631||iridogoniodysgenesis anomaly autosomal dominant C535535|601631||iridogoniodysgenesis anomaly autosomal dominant igda iris hypoplasia with glaucoma included C535535|601631||iridogoniodysgenesis type 1 606035||fasting insulin level quantitative trait locus 1 606035||fiqtl1 C564915|259700||osteopetrosis autosomal recessive 1 C564915|259700||albers schonberg disease autosomal recessive C564915|259700||marble bones autosomal recessive C564915|259700||optb1 C564915|259700||osteopetrosis infantile malignant 1 C567361|612288||inflammatory bowel disease 20 C567361|612288||ibd20 D011141||polyuria D011141||polyurias 300331||thrombocythemia x linked 300331||thcytx 300331||thrombocytosis x linked C567062||fabry disease cardiac variant C567061||xeroderma pigmentosum b cockayne syndrome D011146||eczema dyshidrotic D011146||dyshidrotic eczema D011146||dyshidrotic eczemas D011146||dyshydrotic eczema D011146||dyshydrotic eczemas D011146||eczema dyshydrotic D011146||eczemas dyshidrotic D011146||eczemas dyshydrotic D011146||eczemas vesicular palmoplantar D011146||eczema vesicular palmoplantar D011146||palmoplantar eczemas vesicular D011146||palmoplantar eczema vesicular D011146||pompholyx D011146||vesicular palmoplantar eczema D011146||vesicular palmoplantar eczemas C567751|613102||hypotrichosis and recurrent skin vesicles 117550|D058495||sotos syndrome 117550|D058495||cerebral gigantism 117550|D058495||cerebral gigantisms 117550|D058495||chromosome 5q35 deletion syndrome 117550|D058495||gigantism cerebral 117550|D058495||gigantisms cerebral 117550|D058495||sequence sotos 117550|D058495||sotos1 117550|D058495||sotos sequence 117550|D058495||soto apos s syndrome 117550|D058495||sotos apos syndrome 117550|D058495||sotos syndrome 1 117550|D058495||soto syndrome 117550|D058495||syndrome sotos 117550|D058495||syndrome sotos apos D001791||blood platelet disorders D001791||blood platelet disorder D001791||disorder blood platelet D001791||disorders blood platelet D001791||platelet disorder blood D001791||platelet disorders blood D001791||thrombocytopathies D001791||thrombocytopathy D061387||chlamydial pneumonia D061387||chlamydial pneumonias D061387||chlamydophila pneumonia D061387||chlamydophila pneumonias D061387||pneumonia chlamydial D061387||pneumonia chlamydophila D061387||pneumonias chlamydial D061387||pneumonias chlamydophila D001796||blood protein disorders D001796||blood protein disorder D001796||disorder blood protein D001796||disorders blood protein D001796||protein disorder blood D001796||protein disorders blood D011115||polyneuropathies D011115||acquired polyneuropathies D011115||acquired polyneuropathy D011115||critical illness polyneuropathies D011115||critical illness polyneuropathy D011115||familial polyneuropathies D011115||familial polyneuropathy D011115||inherited polyneuropathies D011115||inherited polyneuropathy D011115||motor polyneuropathies D011115||motor polyneuropathy D011115||polyneuropathies acquired D011115||polyneuropathies critical illness D011115||polyneuropathies familial D011115||polyneuropathies inherited D011115||polyneuropathies motor D011115||polyneuropathy D011115||polyneuropathy acquired D011115||polyneuropathy critical illness D011115||polyneuropathy familial D011115||polyneuropathy inherited D011115||polyneuropathy motor C566471|610476||arrhythmogenic right ventricular dysplasia familial 11 C566471|610476||arrhythmogenic right ventricular cardiomyopathy 11 C566471|610476||arrhythmogenic right ventricular cardiomyopathy 11 arvc11 arrhythmogenic right ventricular dysplasia familial 11 with mild palmoplantar keratoderma and woolly hair included C566471|610476||arvd11 D060048||slipped capital femoral epiphyses D060048||adolescent coxa vara D060048||adolescent coxa varas D060048||bilateral slipped capital femoral epiphyses D060048||bilateral slipped capital femoral epiphysis D060048||coxa vara adolescent D060048||coxa varas adolescent D060048||epiphysiolysis capitis femoris D060048||slipped capital femoral epiphysis D060048||slipped femoral capital epiphyses D060048||unilateral slipped capital femoral epiphyses D060048||unilateral slipped capital femoral epiphysis D012448||sadism D012448||sadisms D012448||sadism sexual D012448||sadisms sexual D012448||sexual sadism D012448||sexual sadisms 180200|D012175||retinoblastoma 180200|D012175||eye cancer retinoblastoma 180200|D012175||familial retinoblastoma 180200|D012175||familial retinoblastomas 180200|D012175||glioblastoma retinal 180200|D012175||glioblastomas retinal 180200|D012175||glioma retinal 180200|D012175||gliomas retinal 180200|D012175||hereditary retinoblastoma 180200|D012175||hereditary retinoblastomas 180200|D012175||neuroblastoma retinal 180200|D012175||neuroblastomas retinal 180200|D012175||rb 180200|D012175||rb1 180200|D012175||retinal glioblastoma 180200|D012175||retinal glioblastomas 180200|D012175||retinal glioma 180200|D012175||retinal gliomas 180200|D012175||retinal neuroblastoma 180200|D012175||retinal neuroblastomas 180200|D012175||retinoblastoma familial 180200|D012175||retinoblastoma hereditary 180200|D012175||retinoblastomas 180200|D012175||retinoblastomas familial 180200|D012175||retinoblastomas hereditary 180200|D012175||retinoblastoma sporadic 180200|D012175||retinoblastomas sporadic 180200|D012175||sporadic retinoblastoma 180200|D012175||sporadic retinoblastomas C563909|608562||polydactyly postaxial type a4 C563909|608562||papa4 C563909|608562||postaxial polydactyly type a4 608681||scdo2 607354||scoliosis idiopathic susceptibility to 2 607354||is2 607354||scoliosis adolescent idiopathic 2 138000|C536827||glomus vagale tumors 138000|C536827||glomangiomas multiple 138000|C536827||glomus tumors multiple 138000|C536827||glomuvenous malformations 138000|C536827||gvm 138000|C536827||venous malformations with glomus cells 138000|C536827||vmglom C567033||glomerulonephritis with isolated c3 deposits and factor i deficiency 218330|C562966||cranioectodermal dysplasia 218330|C562966||ced1 218330|C562966||cranioectodermal dysplasia 1 218330|C562966||levin syndrome i 218330|C562966||sensenbrenner syndrome D011111||polymyalgia rheumatica D011111||forestier certonciny syndrome D011111||peri extra articular rheumatism D011111||pseudopolyarthritides rhizomelic D011111||pseudopolyarthritis rhizomelic D011111||rheumatism peri extra articular D011111||rhizomelic pseudopolyarthritides D011111||rhizomelic pseudopolyarthritis D011111||syndrome forestier certonciny 608688||aicar transformylase imp cyclohydrolase deficiency 608688||atic deficiency 611553|C548083||noonan syndrome 5 611553|C548083||ns5 607317|C537310||spinocerebellar ataxia autosomal recessive 4 607317|C537310||sca24 formerly 607317|C537310||scar4 607317|C537310||scasi 607317|C537310||spinocerebellar ataxia 24 formerly 607317|C537310||spinocerebellar ataxia with saccadic intrusions 300306||body mass index quantitative trait locus 11 300306||bmiq11 C538511||cancer of the oviduct C567039||facial dysmorphism selective tooth agenesis and choroid calcification D000472||alkalosis respiratory D000472||alkaloses respiratory D000472||respiratory alkaloses D000472||respiratory alkalosis D000471||alkalosis D000471||alkaloses 608673||charcot marie tooth disease axonal type 2l D013789||thalassemia D013789||thalassemias C580009||congenital deafness with labyrinthine aplasia microtia and microdontia C580009||congenital deafness with inner ear agenesis microtia and microdontia C580009||lamm syndrome D011128||polyradiculopathy D011128||abdominal polyradiculopathies D011128||abdominal polyradiculopathy D011128||cauda equina syndrome D011128||cauda equina syndromes D011128||polyradiculitides D011128||polyradiculitis D011128||polyradiculopathies D011128||polyradiculopathies abdominal D011128||polyradiculopathy abdominal D011128||syndrome cauda equina D011128||syndromes cauda equina D011127||polyps D011127||polyp D011129||polyradiculoneuropathy D011129||autoimmune demyelinating disease peripheral D011129||demyelinating autoimmune disease peripheral D011129||demyelinating disease peripheral autoimmune D011129||peripheral autoimmune demyelinating disease D011129||polyradiculoneuritides D011129||polyradiculoneuritis D011129||polyradiculoneuropathies C580002||combined malonic and methylmalonic aciduria C580002||cmamma C580003||combined pituitary hormone deficiency C538505||cytomegalic inclusion body disease D060051||occupational injuries D060051||injuries occupational D060051||injury occupational D060051||occupational injury D060050||angina stable D060050||angina chronic stable D060050||angina pectoris stable D060050||angina pectori stable D060050||anginas chronic stable D060050||anginas stable D060050||chronic stable angina D060050||chronic stable anginas D060050||pectoris stable angina D060050||pectori stable angina D060050||stable angina D060050||stable angina chronic D060050||stable angina pectori D060050||stable angina pectoris D060050||stable anginas D060050||stable anginas chronic C537221|600145||sacral defect and anterior sacral meningocele C537221|600145||agenesis of sacrum C537221|600145||caudal dysgenesis syndrome C537221|600145||caudal regression syndrome included C537221|600145||hypoplasia of sacrum C537221|600145||lumbosacral agenesis C537221|600145||sacral agenesis C537221|600145||sacral agenesis included C537221|600145||sacral defect anterior meningocele C537221|600145||sacral defect with anterior meningocele C537221|600145||sdam caudal dysgenesis syndrome included C537221|600145||sirenomelia included D013786||thalamic diseases D013786||dejerine roussy syndrome D013786||diseases thalamic D013786||disease thalamic D013786||syndrome dejerine roussy D013786||syndromes thalamic D013786||syndrome thalamic D013786||thalamic disease D013786||thalamic syndrome D013786||thalamic syndromes D011123||polyploidy D011123||cell polyploid D011123||cells polyploid D011123||polyploid D011123||polyploid cell D011123||polyploid cells D011123||polyploidies D011123||polyploids C543092||lubinsky syndrome C543092||cataracts and testicular failure C543092||hypogonadism cataract syndrome C567041||osteogenesis imperfecta type vi C567041||oi6 C567041||oi type vi D001778||blood coagulation disorders D001778||blood coagulation disorder D001778||coagulation disorder blood D001778||coagulation disorders blood D001778||disorder blood coagulation D001778||disorders blood coagulation C567004||meckel like cerebrorenodigital syndrome D056806||urea cycle disorders inborn D056806||disorders urea cycle D056806||disorder urea cycle D056806||inborn urea cycle disorder D056806||urea cycle disorder D056806||urea cycle disorders C563451|606392||maturity onset diabetes of the young type 4 C563451|606392||mody4 C563451|606392||mody type 4 C567813|613021||bronchiectasis with or without elevated sweat chloride 2 C567813|613021||besc2 208250|C537560||jacobs syndrome 208250|C537560||arthropathy camptodactyly syndrome 208250|C537560||cacp 208250|C537560||camptodactyly arthropathy coxa vara pericarditis syndrome 208250|C537560||camptodactyly arthropathy pericarditis syndrome 208250|C537560||congenital familial hypertrophic synovitis 208250|C537560||fibrosing serositis familial 208250|C537560||hypertrophic synovitis congenital familial 208250|C537560||pac syndrome 208250|C537560||pericarditis arthropathy camptodactyly syndrome 607812|C564332||craniolenticulosutural dysplasia 607812|C564332||boyadjiev jabs syndrome 607812|C564332||clsd D003093|191390||colitis ulcerative D003093|191390||colitis gravis D003093|191390||ibd11 D003093|191390||idiopathic proctocolitis D003093|191390||inflammatory bowel disease ulcerative colitis type D003093|191390||ulcerative colitis 613207||asthma related traits susceptibility to 8 613207||asrt8 613207||rhinoconjunctivitis susceptibility to included C565102|612908||keratosis palmoplantaris striata ii C565102|612908||keratoderma palmoplantar striate form ii C565102|612908||kpps2 C565102|612908||ppks2 C565102|612908||sppk2 C565102|612908||striate palmoplantar keratoderma ii C557675||congenital tracheomalacia C557675||tracheomalacia congenital C557675||type 1 tracheomalacia 607086|C562834||aortic aneurysm familial thoracic 1 607086|C562834||aat1 607086|C562834||aneurysm thoracic aortic erdheim cystic medial necrosis of aorta included 607086|C562834||annuloaortic ectasia 607086|C562834||aortic aneurysm familial thoracic 607086|C562834||aortic dissection familial 607086|C562834||faa1 607086|C562834||familial aortic aneurysm 607086|C562834||familial aortic dissection 607086|C562834||familial taad 607086|C562834||familial thoracic aortic aneurysm 607086|C562834||familial thoracic aortic aneurysm and dissection D012421||rupture D012421||ruptures C563717|609454||supranuclear palsy progressive 2 C563717|609454||psnp2 D012422||rupture spontaneous D012422||ruptures spontaneous D012422||spontaneous rupture D012422||spontaneous ruptures C563541|160700||myopia 2 C563541|160700||myopia 2 autosomal dominant C563541|160700||myp2 150250|C537873||larsen syndrome dominant type 150250|C537873||larsen syndrome autosomal dominant 150250|C537873||lrs D001787||blood group incompatibility D001787||blood group incompatibilities D001787||group incompatibilities blood D001787||group incompatibility blood D001787||incompatibilities blood group D001787||incompatibility blood group D001787||reactions transfusion D001787||reaction transfusion D001787||transfusion reaction D001787||transfusion reactions D000453||aleutian mink disease D000453||aleutian disease of mink D000453||disease aleutian mink D000453||mink disease aleutian C565833|603909||autoimmune lymphoproliferative syndrome type iia C565833|603909||alps2a 148500|C536164||keratosis palmoplantaris with esophageal cancer 148500|C536164||howell evans syndrome 148500|C536164||keratosis palmaris et plantaris with esophageal cancer 148500|C536164||toc 148500|C536164||tylosis with esophageal cancer D000425||alcohol amnestic disorder D000425||alcohol amnestic disorders D000425||alcohol amnestic syndrome D000425||alcohol amnestic syndromes D000425||alcoholic korsakoff syndrome D000425||alcoholic korsakoff syndromes D000425||alcohol induced amnestic psychoses D000425||alcohol induced amnestic psychosis D000425||alcohol induced amnestic syndrome D000425||alcohol induced amnestic syndromes D000425||alcohol induced dysmnesic psychoses D000425||alcohol induced dysmnesic psychosis D000425||alcohol induced dysmnesic syndrome D000425||alcohol induced dysmnesic syndromes D000425||alcohol induced korsakoff syndrome D000425||alcohol induced korsakoff syndromes D000425||alcohol induced persisting amnestic disorder D000425||amnestic disorder alcohol D000425||amnestic disorders alcohol D000425||amnestic psychoses alcohol induced D000425||amnestic psychosis alcohol induced D000425||amnestic syndrome alcohol D000425||amnestic syndrome alcohol induced D000425||amnestic syndromes alcohol D000425||amnestic syndromes alcohol induced D000425||dysmnesic psychoses alcohol induced D000425||dysmnesic psychosis alcohol induced D000425||dysmnesic syndrome alcohol induced D000425||dysmnesic syndromes alcohol induced D000425||korsakoff syndrome alcoholic D000425||korsakoff syndrome alcohol induced D000425||korsakoff syndromes alcoholic D000425||korsakoff syndromes alcohol induced D000425||psychoses alcohol induced amnestic D000425||psychoses alcohol induced dysmnesic D000425||psychosis alcohol induced amnestic D000425||psychosis alcohol induced dysmnesic D000425||syndrome alcohol amnestic D000425||syndrome alcoholic korsakoff D000425||syndrome alcohol induced amnestic D000425||syndrome alcohol induced dysmnesic D000425||syndrome alcohol induced korsakoff D000425||syndromes alcohol amnestic D000425||syndromes alcoholic korsakoff D000425||syndromes alcohol induced amnestic D000425||syndromes alcohol induced dysmnesic D000425||syndromes alcohol induced korsakoff D001753||blast injuries D001753||blast injury D001753||injuries blast D001753||injury blast D001759||blastomycosis D001759||blastomycoses D001759||blastomycosis north american D001759||gilchrist disease D001759||gilchrist apos s disease D001759||gilchrists disease D001759||north american blastomycosis 194380|C566369||dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema 194380|C566369||dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and or perinatal edema 194380|C566369||dhs 194380|C566369||pseudohyperkalemia edinburgh 194380|C566369||pseudohyperkalemia familial 1 due to red cell leak 194380|C566369||pshk1 D056829||hereditary angioedema types i and ii D056829||angioedema hereditary type ii D056829||angioedema hereditary types i and ii D056829||c1 esterase inhibitor deficiency of D056829||deficiency of c1 esterase inhibitor D056829||hereditary angioedema type 1 D056829||hereditary angioedema type i D056829||hereditary angioedema type ii 604403|C565810||generalized epilepsy with febrile seizures plus type 2 604403|C565810||feb3a included 604403|C565810||gefsp2 604403|C565810||gefs type 2 604403|C565810||gefs type 2 gefs 2 febrile seizures familial 3a included C563273|145001||hyperparathyroidism 2 C563273|145001||hrpt2 C563273|145001||hyperparathyroidism familial primary with multiple ossifying jaw fibromas C563273|145001||hyperparathyroidism jaw tumor syndrome hereditary C563273|145001||hyperparathyroidism jaw tumor syndrome hereditary hpt jt parathyroid adenomatosis familial cystic included C565328|605432||radioulnar synostosis with amegakaryocytic thrombocytopenia C565328|605432||ctrus C565328|605432||rusat C565328|605432||thrombocytopenia congenital with radioulnar synostosis D012409||rubella D012409||german measles D012409||measles german D012409||measles three day D012409||measle three day D012409||rubellas D012409||three day measle D012409||three day measles D001752||blast crisis D001752||blast crises D001752||blast phase D001752||blast phases D001752||crises blast D001752||crisis blast D001752||phase blast D001752||phases blast D001750||urinary bladder neurogenic D001750||atonic neurogenic bladder D001750||bladder disorder neurogenic D001750||bladder neurogenesis D001750||bladder neurogenic D001750||neurogenesis bladder D001750||neurogenesis urinary bladder D001750||neurogenic bladder D001750||neurogenic bladder atonic D001750||neurogenic bladder disorder D001750||neurogenic bladder disorders D001750||neurogenic bladder spastic D001750||neurogenic bladder uninhibited D001750||neurogenic dysfunction of the urinary bladder D001750||neurogenic urinary bladder D001750||neurogenic urinary bladder atonic D001750||neurogenic urinary bladder disorder D001750||neurogenic urinary bladder spastic D001750||neurogenic urinary bladder uninhibited D001750||neuropathic bladder D001750||spastic neurogenic bladder D001750||uninhibited neurogenic bladder D001750||urinary bladder disorder neurogenic D001750||urinary bladder neurogenesis D001750||urinary bladder neurogenic dysfunction D013733||testicular diseases D013733||diseases testicular D013733||disease testicular D013733||testicular disease D013736||testicular neoplasms D013736||cancer of testis D013736||cancer of the testes D013736||cancer of the testis D013736||cancers testicular D013736||cancers testis D013736||cancer testicular D013736||cancer testis D013736||neoplasms testicular D013736||neoplasms testis D013736||neoplasm testicular D013736||neoplasm testis D013736||rete testis tumor D013736||rete testis tumors D013736||testicular cancer D013736||testicular cancers D013736||testicular neoplasm D013736||testicular tumors D013736||testis cancer D013736||testis cancers D013736||testis neoplasm D013736||testis neoplasms D013736||testis tumor rete D013736||testis tumors rete D013736||tumor of rete testis D060085||coinfection D060085||co infection D060085||coinfections D060085||co infections D060085||infection mixed D060085||infection polymicrobial D060085||infection secondary D060085||infections mixed D060085||infections polymicrobial D060085||infections secondary D060085||mixed infection D060085||mixed infections D060085||polymicrobial infection D060085||polymicrobial infections D060085||secondary infection D060085||secondary infections D056824||upper extremity deep vein thrombosis D056824||central venous catheter thrombosis D056824||effort induced upper extremity deep vein thrombosis D056824||effort related upper extremity deep vein thrombosis D056824||exercise induced upper extremity deep vein thrombosis D056824||idiopathic upper extremity deep vein thrombosis D056824||paget schroetter syndrome D056824||syndrome paget schroetter D056824||upper extremity deep vein thrombosis primary D056824||upper extremity deep vein thrombosis secondary D012400||rotavirus infections D012400||infection rotavirus D012400||infections rotavirus D012400||rotavirus infection D056685|218040||costello syndrome D056685|218040||cmems included D056685|218040||faciocutaneoskeletal syndrome D056685|218040||faciocutaneoskeletal syndromes D056685|218040||fcs syndrome D056685|218040||fcs syndrome myopathy congenital with excess of muscle spindles included D056685|218040||fcs syndromes D056685|218040||syndrome costello D056685|218040||syndrome faciocutaneoskeletal D056685|218040||syndrome fcs D056685|218040||syndromes faciocutaneoskeletal D056685|218040||syndromes fcs D001766||blindness D001766||acquired blindness D001766||amauroses D001766||amaurosis D001766||blindness acquired D001766||blindness complete D001766||blindness hysterical D001766||blindness legal D001766||blindness monocular D001766||blindness transient D001766||complete blindness D001766||hysterical blindness D001766||legal blindness D001766||monocular blindness D001766||transient blindness D000435||alcoholic intoxication D000435||drunkenness D000435||drunkennesses D000435||intoxication alcoholic D001765||blind loop syndrome D001765||bacterial overgrowth syndrome D001765||loop syndromes stagnant D001765||loop syndrome stagnant D001765||stagnant loop syndrome D001765||stagnant loop syndromes D001765||syndrome bacterial overgrowth D001765||syndrome blind loop D001765||syndromes stagnant loop D001765||syndrome stagnant loop D001764||blepharospasm D001764||blepharospasms D001768||blister D001768||bleb D001768||blebs D001768||blisters D001768||bulla D001768||bullae D001768||bullous lesion D001768||bullous lesions D001768||lesion bullous D001768||lesions bullous D001768||vesication D001768||vesications 194070|D009396||wilms tumor 194070|D009396||bilateral wilms tumor 194070|D009396||nephroblastoma 194070|D009396||nephroblastomas 194070|D009396||tumor bilateral wilms 194070|D009396||tumor wilms 194070|D009396||tumor wilms apos 194070|D009396||wilm apos s tumor 194070|D009396||wilms apos tumor 194070|D009396||wilms tumor 1 194070|D009396||wilms tumor bilateral 194070|D009396||wilm tumor 194070|D009396||wt1 D001763||blepharoptosis D001763||blepharoptoses D001763||eyelid ptoses D001763||eyelid ptosis D001763||ptoses eyelid D001763||ptosis eyelid D001762||blepharitis D001762||blepharitides D000430||alcohol withdrawal delirium D000430||alcohol withdrawal associated autonomic hyperactivity D000430||alcohol withdrawal hallucinosis D000430||alcohol withdrawal induced delirium tremens D000430||autonomic hyperactivity alcohol withdrawal associated D000430||delirium alcohol withdrawal D000430||delirium tremens D000430||delirium tremens alcohol withdrawal induced D000430||hallucinosis alcohol withdrawal D013746||tetany D013746||neonatal tetanies D013746||neonatal tetany D013746||spasmophilia D013746||spasmophilias D013746||tetanies D013746||tetanies neonatal D013746||tetanilla D013746||tetanillas D013746||tetany neonatal C536546|602134||tremor hereditary essential 2 C536546|602134||etm2 203800|D056769||alstrom syndrome 203800|D056769||alms 203800|D056769||alss 203800|D056769||alstrom hallgren syndrome 203800|D056769||alstrom apos s syndrome 203800|D056769||alstroms syndrome 203800|D056769||alstr 246 m syndrome 203800|D056769||syndrome alstrom 203800|D056769||syndrome alstr 246 m 203800|D056769||syndrome alstrom hallgren 203800|D056769||syndrome alstrom apos s C567002||epilepsy childhood absence susceptibility to 4 D056830||isolated noncompaction of the ventricular myocardium D056830||isolated noncompaction of the left ventricular myocardium x linked D056830||isolated non compaction of the ventricular myocardium D056830||noncompaction of the left ventricular myocardium autosomal dominant D012410||rubella syndrome congenital D012410||congenital rubella syndrome D012410||congenital rubella syndromes D012410||rubella syndromes congenital D012410||syndrome congenital rubella D012410||syndromes congenital rubella D013742||tetanus C536271|608649||ichthyosis prematurity syndrome C536271|608649||aniridia partial with unilateral renal agenesis and psychomotor retardation C536271|608649||aniridia renal agenesis psychomotor retardation C536271|608649||ichthyosis congenita iv C536271|608649||ips D055501||macrophage activation syndrome D055501||syndrome macrophage activation D056833||central serous chorioretinopathy D056833||central serous chorioretinopathies D056833||central serous retinopathies D056833||central serous retinopathy D056833||chorioretinopathies central serous D056833||chorioretinopathy central serous D056833||retinopathies central serous D056833||retinopathy central serous D056833||serous chorioretinopathies central D056833||serous chorioretinopathy central D056833||serous retinopathies central D056833||serous retinopathy central D001734||bites human D001734||bite human D001734||human bite D001734||human bites D001733||bites and stings D001733||bite D001733||bites D001733||sting D001733||stings D001733||stings and bites D000402||airway obstruction D000402||airway obstructions D000402||choking D000402||obstruction airway D000402||obstructions airway 143100|D006816||huntington disease 143100|D006816||akinetic rigid variant of huntington disease 143100|D006816||chorea chronic progressive hereditary huntington 143100|D006816||chorea huntington 143100|D006816||chorea huntington apos s 143100|D006816||chronic progressive hereditary chorea huntington 143100|D006816||hd 143100|D006816||huntington chorea 143100|D006816||huntington chronic progressive hereditary chorea 143100|D006816||huntington disease akinetic rigid variant 143100|D006816||huntington disease juvenile 143100|D006816||huntington disease juvenile onset 143100|D006816||huntington disease late onset 143100|D006816||huntington apos s chorea 143100|D006816||huntington apos s disease 143100|D006816||juvenile huntington disease 143100|D006816||juvenile onset huntington disease 143100|D006816||late onset huntington disease 143100|D006816||progressive chorea chronic hereditary huntington 143100|D006816||progressive chorea hereditary chronic huntington D008881|157300||migraine disorders D008881|157300||abdominal migraine D008881|157300||abdominal migraines D008881|157300||acute confusional migraine D008881|157300||acute confusional migraines D008881|157300||cervical migraine syndrome D008881|157300||cervical migraine syndromes D008881|157300||disorder migraine D008881|157300||disorders migraine D008881|157300||fhm4 included D008881|157300||headache migraine D008881|157300||headache sick D008881|157300||headaches migraine D008881|157300||headaches sick D008881|157300||hemicrania migraine D008881|157300||hemicrania migraines D008881|157300||ma D008881|157300||mgau D008881|157300||mgr1 D008881|157300||mgr12 D008881|157300||mgr13 D008881|157300||mgr3 D008881|157300||mgr5 D008881|157300||mgr6 migraine familial hemiplegic 4 included D008881|157300||mgr8 D008881|157300||migraine D008881|157300||migraine abdominal D008881|157300||migraine acute confusional D008881|157300||migraine disorder D008881|157300||migraine headache D008881|157300||migraine headaches D008881|157300||migraine hemicrania D008881|157300||migraines D008881|157300||migraines abdominal D008881|157300||migraines acute confusional D008881|157300||migraines hemicrania D008881|157300||migraine syndrome cervical D008881|157300||migraine syndromes cervical D008881|157300||migraine variant D008881|157300||migraine variants D008881|157300||migraine with or without aura susceptibility to 1 D008881|157300||migraine with or without aura susceptibility to 12 D008881|157300||migraine with or without aura susceptibility to 13 D008881|157300||migraine with or without aura susceptibility to 3 D008881|157300||migraine with or without aura susceptibility to 5 D008881|157300||migraine with or without aura susceptibility to 6 D008881|157300||migraine with or without aura susceptibility to 8 D008881|157300||sick headache D008881|157300||sick headaches D008881|157300||status migrainosus D008881|157300||variant migraine D008881|157300||variants migraine C563668|610422||alopecia mental retardation syndrome 2 C563668|610422||apmr2 C566599|601954||muscular dystrophy limb girdle type 2g C566599|601954||lgmd2g D000405||akinetic mutism D000405||akinetic autism D000405||akinetic mutisms D000405||autism akinetic D000405||coma vigil D000405||coma vigilans D000405||mutism akinetic D000405||vigil coma D000405||vigils coma C564539|300299||neutropenia severe congenital x linked C564539|300299||scnx C564539|300299||xln 122200|C537881||lattice corneal dystrophy type 1 122200|C537881||biber haab dimmer dystrophy 122200|C537881||cdl1 122200|C537881||corneal dystrophy lattice type 1 122200|C537881||corneal dystrophy lattice type i 122200|C537881||lattice corneal dystrophy type i 122200|C537881||lcd 122200|C537881||lcd1 244460|C537021||kenny caffey syndrome type 1 244460|C537021||kcs 244460|C537021||kcs1 244460|C537021||kenny caffey syndrome autosomal recessive 244460|C537021||kenny caffey syndrome autosomal recessive form D013716||tennis elbow D013716||elbows tennis D013716||elbow tennis D013716||epicondylitides lateral humeral D013716||epicondylitis lateral humeral D013716||humeral epicondylitides lateral D013716||humeral epicondylitis lateral D013716||lateral humeral epicondylitides D013716||lateral humeral epicondylitis D013716||tennis elbows D013717||tenosynovitis D013717||tenosynovitides D010673|171300||pheochromocytoma D010673|171300||extra adrenal pheochromocytoma D010673|171300||extra adrenal pheochromocytomas D010673|171300||pheochromocytoma extra adrenal D010673|171300||pheochromocytoma pheochromocytoma susceptibility to D010673|171300||pheochromocytomas D010673|171300||pheochromocytomas extra adrenal 603855||cystic fibrosis modifier of 1 603855||cfm1 603855||meconium ileus in cystic fibrosis susceptibility to included D056844||renal colic D056844||acute renal colic D056844||acute renal colics D056844||colic acute renal D056844||colic renal D056844||colics acute renal D056844||colics renal D056844||colics ureteral D056844||colic ureteral D056844||renal colic acute D056844||renal colics D056844||renal colics acute D056844||ureteral colic D056844||ureteral colics D001745||urinary bladder diseases D001745||bladder disease D001745||bladder diseases D001745||urinary bladder disease D001744||urinary bladder calculi D001744||bladder calculi D001744||bladder calculi urinary D001744||bladder calculus D001744||bladder calculus urinary D001744||bladder stone D001744||bladder stones D001744||bladder stones urinary D001744||bladder stone urinary D001744||calculi bladder D001744||calculi of urinary bladder D001744||calculi urinary bladder D001744||calculi vesical D001744||calculus bladder D001744||calculus urinary bladder D001744||calculus vesical D001744||cystolith D001744||cystoliths D001744||stone bladder D001744||stones bladder D001744||stones urinary bladder D001744||stone urinary bladder D001744||urinary bladder calculus D001744||urinary bladder stone D001744||urinary bladder stones D001744||vesical calculi D001744||vesical calculus D001742||blackwater fever D001742||black water fever D001742||blackwater fevers D001742||black water fevers D001742||fever blackwater D001742||fever black water D001742||fevers blackwater D001742||fevers black water D001742||hemolytic malaria D001742||hemolytic malarias D001742||malaria hemolytic D001742||malarias hemolytic D001748||urinary bladder neck obstruction D001748||bladder neck obstruction D001748||bladder outlet obstruction D000417||albinism D001747||urinary bladder fistula D001747||fistulas urinary bladder D001747||fistulas vesical D001747||fistula urinary bladder D001747||fistula vesical D001747||urinary bladder fistulas D001747||vesical fistula D001747||vesical fistulas 157700||mitral valve prolapse familial 157700||click murmur syndrome mitral valve prolapse myxomatous 1 included 157700||mmvp1 included 157700||mvp 157700||myxomatous mitral valve prolapse 1 included 157700||pmv D001746||bladder exstrophy D001746||bladder exstrophies D001746||bladder extrophies D001746||bladder extrophy D001746||exstrophies bladder D001746||exstrophies urinary bladder D001746||exstrophy bladder D001746||exstrophy of bladder D001746||exstrophy of the bladder D001746||exstrophy urinary bladder D001746||extrophies bladder D001746||extrophy bladder D001746||urinary bladder exstrophies D001746||urinary bladder exstrophy D013724||teratoma D013724||benign teratoma D013724||benign teratomas D013724||dysembryoma D013724||dysembryomas D013724||immature teratoma D013724||immature teratomas D013724||malignant teratoma D013724||malignant teratomas D013724||teratoid tumor D013724||teratoid tumors D013724||teratoma benign D013724||teratoma cystic D013724||teratoma immature D013724||teratoma malignant D013724||teratoma mature D013724||teratomas D013724||teratomas benign D013724||teratomas immature D013724||teratomas malignant D013724||tumors teratoid D013724||tumor teratoid C565275|605913||bleeding disorder east texas type C565275|605913||bdet 607095|C538256||anauxetic dysplasia 607095|C538256||spondylometaepiphyseal dysplasia anauxetic type 607095|C538256||spondylometaepiphyseal dysplasia menger type C567216|612642||deafness autosomal dominant 59 C567216|612642||dfna59 C565406|249500||mental retardation autosomal recessive 1 C565406|249500||mrt1 102600||adenine phosphoribosyltransferase 102600||aprt D000419||albuminuria D000419||albuminurias C567506|611879||cardiomyopathy dilated 1z C567506|611879||cmd1z C562695|609304||epileptic encephalopathy early infantile 3 C562695|609304||early myoclonic encephalopathy C562695|609304||eiee3 C562695|609304||myoclonic epilepsy neonatal with suppression burst pattern D044882||glucose metabolism disorders D044882||disorder glucose metabolic D044882||disorder glucose metabolism D044882||disorders glucose metabolic D044882||disorders glucose metabolism D044882||glucose metabolic disorder D044882||glucose metabolic disorders D044882||glucose metabolism disorder D044882||metabolic disorder glucose D044882||metabolic disorders glucose D044882||metabolism disorder glucose D044882||metabolism disorders glucose D001716||bird fancier apos s lung D001716||avian hypersensitivity pneumonitides D001716||avian hypersensitivity pneumonitis D001716||bird fancier lung D001716||bird fanciers lung D001716||bird fancier apos s lungs D001716||budgerigar fancier lung D001716||budgerigar fancier apos s lung D001716||budgerigar fanciers lung D001716||budgerigar fancier apos s lungs D001716||hypersensitivity pneumonitides avian D001716||hypersensitivity pneumonitis avian D001716||lung bird fancier apos s D001716||lung budgerigar fancier apos s D001716||lung pigeon breeder apos s D001716||lungs bird fancier apos s D001716||lungs budgerigar fancier apos s D001716||lungs pigeon breeder apos s D001716||pigeon breeder lung D001716||pigeon breeder apos s lung D001716||pigeon breeders lung D001716||pigeon breeder apos s lungs D001716||pneumonitides avian hypersensitivity D001716||pneumonitis avian hypersensitivity D001716||pneumonitis hypersensitivity avian D001715||bird diseases D001715||avian disease D001715||avian diseases D001715||bird disease D001715||disease avian D001715||disease bird D001715||diseases avian D001715||diseases bird D001714||bipolar disorder D001714||affective psychosis bipolar D001714||bipolar affective psychosis D001714||bipolar depression D001714||bipolar disorders D001714||depression bipolar D001714||disorder bipolar D001714||disorder manic D001714||mania D001714||manias D001714||manic depressive psychoses D001714||manic disorder D001714||manic disorders D001714||manic state D001714||manic states D001714||psychoses bipolar affective D001714||psychoses manic depressive D001714||psychosis bipolar affective D001714||psychosis manic depressive D001714||state manic D001714||states manic 207750|D008072||hyperlipoproteinemia type i 207750|D008072||anapolipoproteinemia c ii 207750|D008072||anapolipoproteinemias c ii 207750|D008072||apoc2 deficiency 207750|D008072||apolipoprotein c ii deficiencies 207750|D008072||apolipoprotein c ii deficiency 207750|D008072||burger grutz syndrome 207750|D008072||burger grutz syndromes 207750|D008072||chylomicronemias familial 207750|D008072||c ii anapolipoproteinemia 207750|D008072||c ii anapolipoproteinemias 207750|D008072||deficiencies apolipoprotein c ii 207750|D008072||deficiencies familial lpl 207750|D008072||deficiencies lipase d 207750|D008072||deficiencies lipd 207750|D008072||deficiencies lipoprotein lipase 207750|D008072||deficiency apolipoprotein c ii 207750|D008072||deficiency familial lpl 207750|D008072||deficiency lipase d 207750|D008072||deficiency lipd 207750|D008072||deficiency lipoprotein lipase 207750|D008072||essential familial hyperlipemia 207750|D008072||essential familial hyperlipemias 207750|D008072||familial chylomicronemia 207750|D008072||familial chylomicronemias 207750|D008072||familial fat induced hypertriglyceridemia 207750|D008072||familial fat induced hypertriglyceridemias 207750|D008072||familial hyperchylomicronemia 207750|D008072||familial hyperchylomicronemias 207750|D008072||familial hyperlipemia essential 207750|D008072||familial hyperlipemias essential 207750|D008072||familial hyperlipoproteinemia type 1 207750|D008072||familial lipoprotein lipase deficiency 207750|D008072||familial lpl deficiencies 207750|D008072||familial lpl deficiency 207750|D008072||fat induced hypertriglyceridemia familial 207750|D008072||fat induced hypertriglyceridemias familial 207750|D008072||hyperchylomicronemias familial 207750|D008072||hyperlipemias essential familial 207750|D008072||hyperlipoproteinemias type i 207750|D008072||hyperlipoproteinemias type ia 207750|D008072||hyperlipoproteinemias type ib 207750|D008072||hyperlipoproteinemia type ias 207750|D008072||hyperlipoproteinemia type ib 207750|D008072||hyperlipoproteinemia type ibs 207750|D008072||hyperlipoproteinemia type is 207750|D008072||hypertriglyceridemia familial fat induced 207750|D008072||hypertriglyceridemias familial fat induced 207750|D008072||lipase d deficiencies 207750|D008072||lipase deficiencies lipoprotein 207750|D008072||lipd deficiencies 207750|D008072||lipoprotein lipase deficiencies 207750|D008072||lipoprotein lipase deficiency 207750|D008072||lipoprotein lipase deficiency familial 207750|D008072||lpl deficiencies familial 207750|D008072||lpl deficiency familial 207750|D008072||syndrome burger grutz 207750|D008072||syndromes burger grutz 207750|D008072||type ia hyperlipoproteinemia 207750|D008072||type ia hyperlipoproteinemias 207750|D008072||type ib hyperlipoproteinemia 207750|D008072||type ib hyperlipoproteinemias 207750|D008072||type i hyperlipoproteinemia 207750|D008072||type i hyperlipoproteinemias 137600|C535536||iridogoniodysgenesis dominant type 137600|C535536||igds 137600|C535536||ihga 137600|C535536||irid2 137600|C535536||iridogoniodysgenesis syndrome 137600|C535536||iridogoniodysgenesis type 2 137600|C535536||iris hypoplasia with early onset glaucoma autosomal dominant C567447|611959||prostate cancer hereditary 15 C567447|611959||hpc15 C567115|233650||combined cellular and humoral immune defects with granulomas C567115|233650||cchidg 120430|C535970||coloboma of optic nerve 120430|C535970||congenital coloboma of the optic nerve 120430|C535970||morning glory disc included 120430|C535970||optic nerve coloboma 120430|C535970||optic nerve head pits bilateral congenital 120430|C535970||optic nerve head pits bilateral congenital included D015518|312750||rett syndrome D015518|312750||autism dementia ataxia and loss of purposeful hand use D015518|312750||autism dementia ataxia and loss of purposeful hand use rett syndrome zappella variant included D015518|312750||autism dementia ataxia loss of purposeful hand use syndrome D015518|312750||cerebroatrophic hyperammonemia D015518|312750||cerebroatrophic hyperammonemias D015518|312750||hyperammonemia cerebroatrophic D015518|312750||hyperammonemias cerebroatrophic D015518|312750||rett disorder D015518|312750||rett apos s disorder D015518|312750||rett apos s syndrome D015518|312750||retts syndrome D015518|312750||rett syndrome atypical included D015518|312750||rett syndrome preserved speech variant included D015518|312750||rtt D015518|312750||syndrome rett D015518|312750||syndrome rett apos s C544351||idiopathic orthostatic hypotension D055538||delta thalassemia D055538||delta thalassemias D055534||bulbo spinal atrophy x linked D055534||atrophies x linked bulbo spinal D055534||atrophy x linked bulbo spinal D055534||bulbo spinal atrophies x linked D055534||disease kennedy D055534||disease kennedy apos s D055534||kennedy apos s disease D055534||kennedys disease D055534||kennedy syndrome D055534||syndrome kennedy D055534||x linked bulbo spinal atrophies D055534||x linked bulbo spinal atrophy D055534||x linked bulbospinal muscular atrophy D055534||x linked spinal and bulbar muscular atrophy D055535||morgellons disease D055535||disease morgellons D055535||morgellon D055535||morgellons D055535||morgellon apos s D055535||morgellons syndrome D055535||syndrome morgellons C567764|613087||atrial septal defect 6 C567764|613087||asd6 C567887|154230||46 xy sex reversal 4 C567887|154230||46 xy gonadal dysgenesis complete or partial with 9p24 3 deletion C567887|154230||chromosome 9p24 3 deletion syndrome C567887|154230||srxy4 D001720||birth injuries D001720||birth injury D001720||injuries birth D001720||injury birth C537352|156500||metaphyseal chondrodysplasia schmid type C537352|156500||mcds C537352|156500||spondylometaphyseal dysplasia japanese type D001724||birth weight D001724||birth weights D001724||weight birth D001724||weights birth C563678|610356||retinal cone dystrophy 3b C563678|610356||cdsrr C563678|610356||cone dystrophy with night blindness and supernormal rod responses kcnv2 related C563678|610356||cone dystrophy with supernormal rod responses C563678|610356||rcd3b D013708||tendon injuries D013708||injuries tendon D013708||injury tendon D013708||tendon injury D013700||giant cell arteritis D013700||aortic arteritis giant cell D013700||aortitides giant cell D013700||aortitis giant cell D013700||arteritides cranial D013700||arteritides giant cell D013700||arteritides juvenile temporal D013700||arteritides temporal D013700||arteritis cranial D013700||arteritis giant cell D013700||arteritis giant cell horton D013700||arteritis giant cell horton apos s D013700||arteritis juvenile temporal D013700||arteritis temporal D013700||cranial arteritides D013700||cranial arteritis D013700||giant cell aortic arteritis D013700||giant cell aortitides D013700||giant cell aortitis D013700||giant cell aortitis horton apos s D013700||giant cell arteritides D013700||giant cell arteritis horton D013700||horton disease D013700||horton giant cell arteritis D013700||horton apos s disease D013700||hortons disease D013700||horton apos s giant cell arteritis D013700||juvenile temporal arteritides D013700||juvenile temporal arteritis D013700||temporal arteritides D013700||temporal arteritides juvenile D013700||temporal arteritis D013700||temporal arteritis juvenile D013705||temporomandibular joint disorders D013705||diseases temporomandibular joint D013705||diseases tmj D013705||disease temporomandibular joint D013705||disease tmj D013705||disorders temporomandibular D013705||disorders temporomandibular joint D013705||disorders tmj D013705||disorder temporomandibular D013705||disorder temporomandibular joint D013705||disorder tmj D013705||joint diseases temporomandibular D013705||joint disease temporomandibular D013705||joint disorders temporomandibular D013705||joint disorder temporomandibular D013705||temporomandibular disorder D013705||temporomandibular disorders D013705||temporomandibular joint disease D013705||temporomandibular joint diseases D013705||temporomandibular joint disorder D013705||tmj disease D013705||tmj diseases D013705||tmj disorder D013705||tmj disorders 278300|C562584||xanthinuria type i 278300|C562584||xanthine dehydrogenase deficiency 278300|C562584||xanthine oxidase deficiency 278300|C562584||xdh deficiency D013706||temporomandibular joint dysfunction syndrome D013706||costen apos s syndrome D013706||costens syndrome D013706||costen syndrome D013706||joint syndrome temporomandibular D013706||myofascial pain dysfunction syndrome temporomandibular joint D013706||syndrome costen apos s D013706||syndrome temporomandibular joint D013706||syndrome tmj D013706||temporomandibular joint syndrome D013706||tmj syndrome C537143|602475||ossification of the posterior longitudinal ligament of the spine C537143|602475||opll C537143|602475||ossification of the posterior longitudinal ligament of spine C563440|600802||severe combined immunodeficiency autosomal recessive t cell negative b cell positive nk cell negative C563440|600802||scid t cell negative b cell positive nk cell negative D054219||neoplasms plasma cell D054219||neoplasm plasma cell D054219||plasma cell neoplasm D054219||plasma cell neoplasms D054218||precursor t cell lymphoblastic leukemia lymphoma D054218||acute t cell leukemia D054218||acute t cell leukemias D054218||acute t lymphocytic leukemia D054218||acute t lymphocytic leukemias D054218||leukemia acute t cell D054218||leukemia acute t lymphocytic D054218||leukemia lymphoblastic acute t cell D054218||leukemia lymphocytic acute t cell D054218||leukemias acute t cell D054218||leukemias acute t lymphocytic D054218||leukemia t cell acute D054218||lymphoblastic leukemia acute t cell D054218||lymphocytic leukemia t cell acute D054218||precursor t cell lymphoblastic leukemia D054218||precursor t cell lymphoblastic lymphoma D054218||t all D054218||t cell acute lymphocytic leukemia D054218||t cell leukemia acute D054218||t cell leukemias acute D054218||t lymphocytic leukemia acute D054218||t lymphocytic leukemias acute C536288|D007011||aplasia or hypoplasia of the thymus glands parathyroid glands C535464||conotruncal cardiac malformations D030342||genetic disorder 261600||deficiency of hepatic phenylalanine hydroxylase D030342||molecular lesion D030342||inherited disorder D016111||deficiency of fatty alcohol nad oxidoreductase D005235||abnormality in fatty alcohol metabolism D030342||hereditary multisystemic disease D019636||neurodegeneration D007154||immune defects D004194||hypersensitivity to ionizing radiation D019636||neurological lesion D003123|D000236||colorectal adenomas D044483|D011125||polyposis C538265||attenuated polyposis D014842||von willebrand D056729||severe von willebrand disease D030342||genetic abnormality D030342||genetic abnormalities C538243||x linked amelogenesis imperfecta D014071||inherited dental abnormality C538243||x linked amelogenesis imperfecta disease D007926||lesch nyhan D007926||hypoxanthine phosphoribosyltransferase hprt deficiency D011218||prader willi D040181||x linked diseases 261600||deficiency of the hepatic enzyme phenylalanine hydroxylase D011125||adenomatous polyposis coli tumor D011125||adenomatous polyposis coli apc tumor D003110||colon carcinoma D030342||genetic disorders D001943||familial breast cancer D061325||breast ovarian cancer D001943|D010051|D001943+D010051||breast cancer ovarian cancer D003638||syndromic deafness D006042||dyshormonogenic goiter D006319||sensory neural deafness D006042||thyroid goiter D013132||inherited ataxia D061325||inherited breast ovarian cancer D001943||breast cancers D007938||acute leukemia D030342||autosomal dominant disorder D002471||tumorogenesis D010673||phaeochromocytomas 260350||pancreatic malignancies D009369||bilateral and multifocal tumors D009369||inherited and sporadic forms of the cancer D002292||sporadic renal cell carcinomas D009468||benign neuromuscular disorder D051346||loss of ambulation D009133||muscle wasting 253000||mucopolysaccharidosis iva D030342||autosomal recessive disorder D009085||deficiency in n acetylgalactosamine 6 sulfatase D010051||sporadic ovarian tumors D030342||autosomal dominant syndrome D061325||breast and ovarian cancer D020388|C537666||duchenne muscular dystrophy becker muscular dystrophy D005955||glucose 6 phosphate dehydrogenase g6pd deficiency D008661||enzymopathy D040181||x linked disorder D005955||glucose 6 phosphate dehydrogenase a D008661||enzyme deficiency D020271||neurological diseases D007966||late infantile metachromatic leukodystrophy D007966||late infantile type of metachromatic leukodystrophy D007567||severe neonatal jaundice D006932||hyperbilirubinaemia D010661||hyperphenylalaninemic C537845||non syndromic hearing loss 600791||autosomal recessive non syndromic hearing loss D007645||palmoplantar keratoderma ppk conditions D009260||atrophic changes of the nails D006226||radiographic deformity of the fingers D030342||genetic defect 103600||analbuminemia D006623||von hippel lindau D018292||papillary cystadenoma of the epididymis D006623||von hippel lindau vhl disease C538445||metastatic renal cell carcinoma D003537||cystadenomas of the epididymis D011125||apc tumor 609536||hereditary deficiency of the fifth component of complement 609536||c5 deficient 160800||chloride channel disorder C536245||dominant non dystrophic myotonias D009224||dominant myotonia congenita D009224||dominant myotonias C536106||muscle hypertrophy D009224||recessive myotonia D030342||deficient in six5 D030342||dominantly inherited disease D009136||muscle dystrophy 115080||cardiac conduction defects D006327||cardiac conduction abnormalities D030342||six5 deficiency D009139||abnormalities of skeletal muscle function D002386||lenticular opacities D030342||multigenic disorder D002658||developmental disorder D012734||intersex disorders D000746||chronic nonspherocytic hemolytic anemia D006461||hemolytic crisis D012141||upper respiratory infection D000745||chronic hemolytic anemia 604370||brca1 abnormalities D019042||pediatric cancer of striated muscle D008223||centrocytic lymphoma D016393||b cell neoplasms D001943|D018307||breast cell neoplasms squamous cell neoplasms D008223||centrocytic lymphomas D008223||noncentrocytic lymphomas D006130||short stature D019465|D017880|D014564||facial abnormalities limb abnormalities genital abnormalities 217000||c2 deficient D016464||lysosomal storage disorder 253000||deficiency of n acetylgalactosamine 6 sulfate sulfatase D015179||hereditary colorectal cancer syndrome D005955||g6pd deficient D030342||autossomal recessive disorder D020162||deficiency in the cytosolic liver type arginase enzyme D000746||hereditary non spherocytic hemolytic anemia D000746||hereditary nonspherocytic hemolytic anemia D012004||carcinoma of the rectum D008607||mentally retarded D001321||autistic D000013|D057215||dysmorphic features 313900||congenital thrombocytopenia D011125||familial polyposis D061325||breast ovary cancer family syndrome D001943|D010051||cancer of breast cancer of ovaries D061325||breast ovary cancer D061325||breast ovarian cancer family syndrome 143470||hyperalphalipoproteinemic D050197||atherosclerotic symptoms C535468||intracellular copper accumulation D020518||late onset hepatic nodular transformation C535468||copper toxicity disorder D008107|D009422||hepatic abnormalities neuro logical abnormalities C535468||copper deficient D000013||morphological abnormalities D009461||neurological abnormalities D006130||growth retardation C535468||copper deficiency D008103||cirrhotic liver disease D005693||autosomal recessive disorder of human galactose metabolism D005693||deficiency of the enzyme galactose 1 phosphate uridyl transferase D020271||neurogenetic disorder D025063||contiguous gene syndrome C538225||midline scalp defect of the frontal region D012162||vitreoretinal degeneration D009216||high myopia D007569||high arched palate C538225||defect of the anterior midline scalp C538225||midline scalp defects D010661||hyperphenylalaninemia D002524||progressive cerebellar ataxia D001927||degeneration of certain brain areas D020388||dystrophic D005600||fragile x syndrome D038901||inherited mental retardation 300624||fragile x mental retardation D007966||autosomal recessive leukodystrophy D017825||deficiency of aspartoacylase D017825||canavan D003025||club foot C535504||double layered patella D030342||recessive disorders C536016||achondrogenesis 1b C535395||atelosteogenesis 2 D004427||swelling of the ear pinna C536903||hitch hiker thumb D030342||diastrophic dysplasia sulphate transporter gene disorders D030342||recessive disorder D010009||med D012878||skin tumor D003110|D009369||colon other cancers some other cancers D012878||skin tumors D018296||pilomatricomas 217000||heterozygous complement factor 2 deficiency 217000||complement factor 2 c2 deficiency 217000||complement factor 2 deficiency D001327||autoimmune disorders D020886||loss of proprioception D001745||bladder symptoms D003920||diabetes D020886||impaired proprioception D005600||fragile x D009410||neuritic degeneration D008637||mesenchymal tumor D018205||fat cell tumors D009765||obese 600698||partial or complete deficiency of hmgic 164160||leptin deficiency D006432||hfe deficiency D006432||hfe deficient D010009||chondrodysplasias C535395||ao ii D010009||chondrodysplasia D004701||endocrine neoplasms D018268||adrenocorotical carcinoma D018268||adrenocortical tumors C535944||desmoid tumor D009369||benign tumors D015794||choroideremia gene C537849||x linked norrie disease D006995||homozygous hypobetalipoproteinemia D000012||abetalipoproproteinemia D006965||overgrowth of oral mucosa and facial skin D054880||deficiency of aspartylglucosaminidase D013568||facial lesions D017445||erythema of the facial skin D018322||facial angiofibromas D007967||oedemic buccal mucosa D007967||leucoedema D009059||oral mucosal lesions D017573||fibroepithelial or epithelial hyperplasias D009059||mucosal lesions D009059||mucosal overgrowth D005955||deficient glucose 6 phosphate dehydrogenase D006130||developmental abnormalities D030342||autosomal codominant disorder D003323||coronary vascular disease 238600||chylomicronemia D009436||exencephalus D006432||hfe defect D012175||retinoblastoma tumors D009369||unilateral tumors D018455||deficiencies of protein s D019851||thrombophilic conditions 612336||pros1 gene defect D019851||thrombophilic defect 612336||defects in the pros1 gene 612336||pros1 gene defects D002658||developmental delay D002658||abnormalities in brain development D040181+D009136||x linked recessive muscular dystrophy D003286||contractures of the elbows achilles tendons and spine D018908||weakness D003286||elbow contractures D003286||ankle contractures D018908||upper limb weakness D018908||lower limb weakness D006331||cardiac involvement D009223||dystrophy myotonic dystrophy D017827||spinocerebellar ataxia 3 machado joseph disease D017827||spinocerebellar ataxia 3 locus 109150||type i autosomal dominant cerebellar ataxia 109150||adca type i 125370||dentatorubropallidoluysian atrophy 610102||deficiency of the seventh component of complement D007153||terminal complement component deficiency D007153||terminal complement deficiency 610102||completely deficient in the seventh component of complement 610102||c7 deficient D008589||meningococcal D007153||complement deficient D054067||dihydropyrimidine dehydrogenase dpd deficiency D030342||autosomal recessive disease D054067||deficiency of dihydropyrimidine dehydrogenase D054067||dihydropyrimidine dehydrogenase D004829||convulsive disorders D019957||motor retardation D013568||clinical abnormalities C535964||type ii collagenopathy 610170||kyphoscoliosis 300194||midface hypoplasia D001847||autosomal dominant bone disorder D001847||increased bone remodelling D030981||osteolytic lesions C538098||familial paget disease of bone D040181||x linked disease D000326||cerebral adrenoleukodystrophy D003711||central nervous system demyelination D009794+D007592||ochronotic arthropathy D028227||familial amyloidotic polyneuropathy D005955||erythrocytic glucose 6 phosphate dehydrogenase deficiency D006461||chronic hemolysis 610102||familial deficiency of the seventh component of complement D008581+D012008||recurrent meningitis 610102||absence of the seventh component of complemen D015821||pigmented ocular fundus lesions D007571||jaw lesions D011125||hereditary adenomatous polyposis of the colon D007571||osteomatous jaw lesions 143470||total deficiency of plasma cholesteryl ester transfer protein 143470||cholesteryl ester transfer protein cetp deficiency 143470||cetp deficient D030342||genetic defects D003111||colorectal polyps D006130||short trunk and extremities D019767||mid face hypoplasia D003645||sudden unexplained death D009135||skeletal myopathy D007926||hprt enzyme deficiency D061325||hereditary breast and ovarian cancer D001943|D010051||breast carcinomas ovarian carcinomas D009386||familial tumors D010051||ovarian and early onset D001943|D010051||sporadic breast cancers ovarian cancers D001943|D010051||breast tumors ovarian tumors D010051||ovarian carcinomas D001943|D010051|D010051|D001943||breast cancers ovarian cancers D009386||hereditary tumor syndrome D018325||bilateral and multi centric hemangioblastoma D052177|D010181|D013088||cysts in the kidney pancreas and epididymis D018325||central nervous system hemangioblastoma C536528||lip pits D002971|D002972||cleft lip cleft palate D006130||developmental delays 119500||popliteal pterygia syndrome D002971|D002972||syndromic forms of cleft lip and palate 119530||nonsyndromic cleft lip and palate D007674||amyloidotic kidney disease 609536||defect in secretion of complement c5 609536||deficiency of the fifth c5 component of complement1 3 610102||hereditary c7 deficiency 610102||deficient in the seventh component of complement 610102||cm deficienty 610102|217000||complement deficiencies c2 and c7 D030342||autosomal recessive human genetic disorder D008661||inborn error of metabolism D030342||recessive inherited disorder D015834||developmental abnormalities of the cochlea D013959||diffuse thyroid enlargement D030342+D003638||hereditary deafness D011115||myelinopathies D010523||hypomyelination of the pns C548028||inherited peripheral neuropathies D002607||charcot marie tooth type 1 C537849||ndp D038901||x linked neurodevelopmental disorder C537849||norrie D008113+D018198||malignant tumor of the liver D002869||rearrangement disorders D000013||congenital anomaly disorders D018198||malignant tumors C535733||der syndrome D003711||hypomyelination D004194||glial cell death D056784||degeneration and premature cell death of oligodendrocytes D003711||myelin deficient D056784||oligodendrocyte degeneration C531610||deficiency of alpha antitrypsin 612446||subtotal complement c6 deficiency 612446||subtotal c6 and complete c6 deficiency 213700||abnormality of cyp27 D061325||breast and or ovarian cancer D004194||phenotypic abnormalities D005124||congenital malformation of the eye D007499||iris hypoplasia D007674||nephropathy D007674||renal disease D008661||x linked inherited metabolic disorder D018901||inborn peroxisomal disease D003711||demyelination in the central and peripheral nervous system D000326||amn D007153||immune deficiency D008223||lymphoid malignancy D007938||leukemic D008223||lymphoid malignancies D008223||lymphoid neoplasms D010900+D000307||pituitary adrenal abnormality D000224||adrenocrotical insufficiency D004700||endocrinologic dysfunction D009120||sustained muscle contraction D014923||x linked immunodeficiency wiskott aldrich syndrome D011125||familial polyposis adenomatous polyposis coli D016472||dying back axonopathy D016472||spinal sep abnormalities D016472||spinal abnormalities D004660||inflammatory brain lesions D010505||mediterranean fever D000686|D010505||mef amyloidosis D007153||complement deficiency D008268||pattern dystrophy D012174||autosomal dominant retinitis pigmentosa D008268||pattern macular dystrophy D012607||pericentral scotomas C538037||trisomy 15 D024182||maternal disomy D009123||hypotonic D030342||autosomal recessive genetic disorder 217000||hereditary c2 deficiency D007153||immunodeficiency D007153||hypoimmunoglobulinemia D005955||glucose 6 phosphate dehydrogenase g6pd e c 1 1 1 49 deficiency D020279||x linked neurologic disorder of myelin metabolism D020279||inborn errors of myelin metabolism D003711||deficit of myelin 312080||pelizaeus merzbacher D003711||dysmyelinating disorder 312080||pelizaeus merzbacher disease type ii D020821||hereditary progressive dystonia D020821||hpd D000224||addison disease only D007249||neutrophil mediated serosal inflammation 606824||autosomal recessive disease glucose galactose malabsorption D030342||genetic diseases D020279||brain dysmyelinating disease D020279||x linked developmental defect of myelination D030342||inherited disease D000326||childhood cerebral adrenoleukodystrophy D009461|D019636||neurologic deterioration D020388|C537666||becker dystrophies duchenne dystrophies 190350||trichorhinophalangeal syndrome 190350||trps D005955||glucose 6 phosphate dehydrogenase g6pd ec 1 1 1 49 deficient D008288||malarious D006461||fatal hemolysis D013921||thrombocytopenic D003711||progressive central demyelination D000309||adrenal cortical insufficiency D015211||zellwegers cerebrohepatorenal syndrome D015211||zellwegers syndrome 613825||deficiency of the ninth component of human complement C531652||progressive tapeto choroidal dystrophy D014923||wiskott aldrich defect D020388|C537666||becker muscular dystrophy duchenne muscular dystrophy D040181||x linked recessive genetic disorder D007863||cholesterol acyltransferase deficiency D007863||classic complete lecithin cholesterol acyltransferase lcat deficiency D007863||partial lecithin cholesterol acyltransferase deficiency D050197||atherosclerotic cardiovascular disease D007863||classic lecithin cholesterol acyltransferase deficiency D007863||complete or partial lecithin cholesterol acyltransferase deficiency D018325||sporadic cerebellar haemangioblastoma D012175||unilateral and bilateral retinoblastoma D009386||hereditary tumors D009369||sporadic tumors D002292||sporadic renal cell carcinoma D018325||cerebellar haemangioblastoma D061325||breast and ovarian cancers D020388||duchenne D030342||autosomal recessive syndrome C538138||complex glycerol kinase deficiency C535764||gonadotropin deficiency D003123||hereditary non polyposis cancer syndrome D015179||colorectal D010051|D016889|D015179||colorectal cancers endometrial cancers ovarian cancers D010051||premenopausal ovarian cancer 313900||isolated thrombocytopenia D014923||x linked wiskott aldrich syndrome D007153||immunodeficiency disease D018335||malignant rhabdoid tumors D020288||choroid plexus carcinomas D009396||wilms tumors D018335||rhabdoid D013661||tay sachs D012175||retinoblastoma rb tumor 310200||dystrophin deficiency D020388||duchenne dystrophy D005955||glucose 6 phosphate dehydrogenase deficient D008659||metabolic disorder D000012||normotriglyceridemic abetalipoproteinemia D050197||premature atherosclerosis D005955||deficient in glucose 6 phosphate dehydrogenase D002386||cataractous D002386||cortical and total cataracts 230400||galactosemic D008659||metabolic abnormalities D010051||ovarian tumor D010051||ovarian tumors D007249||adipose tissue inflammation 304500||x linked sensorineural deafness D006319||sensorineural deafness D020821||dystonias 1 12 D030342||wt1 dysfunction D009369||neoplastic D004194||nonneoplastic D005921||glomerulosclerosis C537346||mesangial sclerosis D005832||male genital defects D009396||wilms tumorigenesis D005776||type ii gaucher disease D005776||deficiency of beta glucocerebrosidase D005776||type i gaucher disease D005776||type iii gaucher disease D005776||type gaucher disease ii D005313||stillborn 261600||deficiency of a hepatic enzyme phenylalanine hydroxylase D018567||familial male breast cancer D007926||deficiency of hypoxanthine guanine phosphoribosyltransferase D005955||severe glucose 6 phosphate dehydrogenase g6pd deficiency D007960||granulocyte dysfunction D005955||severe glucose 6 phosphate dehydrogenase deficiency D005955||deficiency of severe glucose 6 phosphate dehydrogenase D061325||inherited breast and ovarian cancers 300842||mcleod D008052||x linked inborn error of glycosphingolipid metabolism D010292||severe acroparesthesia D014652||vasculopathy of the heart and brain D000795||alpha galactosidase deficiency D000795||alpha gal a deficiency 604370||brca1 deficiency D020964||embryonic lethality D018302||neuroepithelial abnormalities 604370||brca1 deficient C536353||deficiency of mitochondrial very long chain acyl coa dehydrogenase C536353||very long chain acyl coa dehydrogenases deficiency D013122||platyspondyly C538037||maternal disomy for chromosome 15 D054880||deficiency of the enzyme aspartylglucosaminidase D040181||x linked multisystem disorder D000326||type ii adrenoleukodystrophy D006527||wilson disease gene D030342||autosomal dominant disorde D006946||hyperinsulinaemia D001145||cardiac conduction disorders D009396||wt1 gene abnormality C538265||attenuated apc D011125||adenomatous polyps of the colon and rectum C538265||attenuated adenomatous polyposis coli D020389||emerin deficiency D020389||deficiency of emerin 261600||phenylalanine hydroxylase deficiencies D016464||autosomal recessive lysosomal storage disorder D020388|C537666||duchenne becker muscular dystrophies the milder becker muscular dystrophies D009136||dystrophic syndrome D000303||impaired function of adrenal cortex and testes D000326||childhood cerebral ald D000326||adolescent cerebral ald D061325||breast ovarian cancer syndrome 606824||hereditary glucose galactose malabsorption D002524||motor incoordination D007154||immune deficiencies D013953||thymic lymphoma D013132||cerebellar degeneration D009422||neuropathological abnormalities 208900||atm deficiency D008661||in born error of metabolism D009461||neurological disturbance D000743||episodic hemolytic anemia D000745||life long hemolytic anemia 261600||deficiency of the enzyme phenylalanine hydroxylase D006432||hereditary hemochromatosis D018798||dietary iron deficiency D013661||deficiency of beta hexosaminidase a D013661||deficient in hex a D007759||inner ear abnormality C537845||non syndromic sensorineural hearing loss D034381|C537845||syndromic hearing loss non syndromic hearing loss D006457||paroxysmal nocturnal haemoglobinuria 613825||deficiency of the ninth component of complement D006461||haemolytic attack 613825||inherited deficiency in the ninth complement component D006461||haemolysis D006456||haemoglobinuria D006461||haemolytic attacks D003286||contractures of the achilles tendons D003286||contractures of the elbows D018376||cardiac abnormality 609536||deficiency of the murine fifth complement component c5 609536||deficient for c5 609536||c5 protein deficiency D020031||epstein barr D053632||x linked recessive immunodeficiency D007153||inherited complement deficiencies 217000||inherited deficiency of complement factor 2 D018366||cutaneous vasculitis D001172||seropositive rheumatoid arthritis D005124||eye anomalies D005124||ocular anomalies D003317||corneal dystrophy D002386||congenital cataract 136520||foveal hypoplasia C535679||axenfeldt anomaly D012175||hereditary and non hereditary retinoblastoma D012175||hereditary or non hereditary retinoblastoma D030342+D004827||autosomal dominant epilepsy syndrome D004829+D003294||generalized epilepsy seizures plus febrile seizures plus D009386||autosomal dominantly inherited cancer syndrome D010181|D010190||pancreatic cysts and tumors D036821||endolymphatic sac tumors D003537||epididymal cystadenomas D006623||von hippel lindau gene abnormality D040181||x linked recessive disorder D057130||congenital blindness D002386||congenital cataracts D009421||central nervous system defects 106210||haploinsufficiency of pax6 D019465|D009421||craniofacial nervous system defects central nervous system defects D000853||no eyes D001943|D010051||breast to ovarian cancer D005955||x linked glucose 6 phosphate dehydrogenase deficiency D005955||x linked glucose 6 phosphate dehydrogenase g6pd deficiency D014973||spinal xanthomatosis D013118||spinal cord syndrome D002493||white matter abnormalities D002908+D013118||chronic myelopathy D003967||diarrhoea 610743|D013132||autosomal recessive ataxia 217000||type i human complement c2d deficiency 217000||deficiency of complement protein c2d 217000||type i c2d deficiency 217000||type i c2 deficient 217000||type ii c2 deficient 217000||type ii c2d deficiency D013132||spinal cerebellar ataxia D030342||autosomal dominant genetic disorder D016116||piebald D016399||t cell large cell lymphoma D020031||epstein barr virus D003586||cytomegalovirus D015658||human immunodeficiency virus D007153||congenital immunodeficiency syndrome D005955||glucose 6 phosphate dehydrogenase g6pd ec 1 1 1 49 deficiency 300624||fmr1 deficiency D005600||macroorchidism D016512||ankle edema D005221||ease of fatigue D007022||arterial hypotension D013274||familial gastric cancer D015179|D013274||gastric cancer colorectal cancer D015179|D009369||colorectal cancers other cancers D015179|D013274||gastric cancers colorectal cancers 125700||autosomal dominant neurohypophyseal diabetes insipidus C535342||lamellar cataracts C535342||bilateral lamellar cataracts D002869||chromosome 15 anomaly 610102|612446||combined genetic deficiency of c6 and c7 610102|612446||sub total deficiency of c6 and c7 D009422|D001523||neurological disorder behavioural disorder D030342||inherited deficiency D008133||congenital long qt syndrome D000592||iminodipeptiduria D010661||hyperphenylalaninemias D024182||maternal uniparental disomy for chromosome 14 D024182||upd D010033||middle ear infections D024182||maternal heterodisomy D011218|D017204||prader willi syndromes angelman syndromes D009358||familial disorder 200100||deficiency of apob 100 D061325||inherited breast cancer D005955||enzyme deficiency in glucose 6 phosphate dehydrogenase D009369||solid tumors D001859|D012983||bone tissue tumors soft tissue tumors D012216||rheumatic disorder D009422||neurologic disease D007966||leukodystrophy D009422||myeloneuropathy D000224||adrenocortical insufficiency D002971|D002972||oral cleft D002972|D002971||clp D005402||fistulae C535700||mesenchymal tumors D009369||childhood tumor D000592||inborn error of amino acid metabolism C537775||anterior segment malformations C537775||anterior segment anomalies 602482|153400||haploinsufficiency of the transcription factors foxc1 and foxc2 C537775||anterior segment developmental disorders C537775||anterior segment defects C537775||anterior segment abnormalities D006623||von hippel lindau tumor D002292||nonpapillary renal cell carcinoma D030342||genetic disease D052456||abnormalities in the high density lipoproteins D008179||familial discoid lupus erythematosus D008179||chronic discoid lupus erythematosus D008232||lymphoproliferative syndrome D051359||hemophagocytosis D008232||lymphoproliferative disease C537369||coronal craniosynostosis D009139||extracranial abnormalities D009260||brittle nails with prominent longitudinal grooves D013576||syndactyly of fingers and toes C535884||laxity of joints D040181||x linked disorders D061325||breast ovarian syndrome D013132||inherited ataxias D019636||autosomal recessive degenerative disorder D020234|D001259||progressive gait ataxia limb ataxia D012021||absence of deep tendon reflexes D053421||loss of position and vibration sense D020389||x linked recessive emery dreifuss muscular dystrophy D009135+D030342||inherited muscle disorder D019282||wasting of humero peroneal muscles D003286||contractures of the elbows achilles tendons and postcervical muscles D006327||cardiac conduction block D010016||osteomata D012164||congenital hypertrophy of the retinal pigment epithelium D012164||chrpes D008607||mental handicap D015499||defective renal tubular function D058456||unilateral retinal telangiectasis D058456||abnormal retinal vascular development D006949||intraretinal and subretinal lipid accumulation D012163||exudative retinal detachment D058456||coats telangiectasis C537849||deficiency of norrin D014564||genital abnormalities 612446||absence of the sixth component of complement D016870||neisserial infections 612446||c6 deficient D006474||haemorrhagic condition D001260||a t D040181||x linked recessive disease D006042||goitre D010051||brca linked and sporadic ovarian cancer D061325||hereditary ovarian cancers D010051||sporadic nonhereditary ovarian cancers D009369||hereditary cancers D009369||stage iii cancers 604370|612555|613399||brca associated hereditary ovarian cancers D009369||sporadic cancers D009386||advanced stage hereditary cancer D009369||nonhereditary cancer 604370|612555||brca1 linked than for brca2 linked cancers D009369||malignant neoplasms D009369||malignant neoplasm D010051|D013274|D001661||ovarian system carcinomas gastric system carcinomas biliary system carcinomas D010190|D002280|D015179|D001943|D002583||pancreatic carcinomas basal cell carcinomas colonic carcinomas breast carcinomas cervical carcinomas D000015||abnormalities of eyes nervous system and kidneys D030342||recessive genetic disorders D061325||hereditary human breast and ovarian cancer 604370||brca1 defects D030342||recessively inherited disorder D007249||serosal inflammation C538249||renal amyloidosis 312920||x linked spastic paraplegia D030342||allelic disorders D020279||x linked dysmyelinating disorder D007926||complete deficiency of hypoxanthine guanine phosphoribosyltransferase D007926||hypoxanthine guanine phosphoribosyltransferase deficient D019954||neurobehavioral disorders D015783||isolated aniridia D005955||glucose 6 phosphate dehydrogenase seattle like phenotype D006432||hereditary hemochromatotic D020271||autosomal recessive neurodegenerative disease D018901||peroxisomal deficiency disorders 202370|214100||pts1 protein import defect D008661||protein import deficiency D001168||chronic arthritis D005955||glucose 6 phosphate dehydrogenase g6pd deficient D001943||sporadic breast cancer D061325||familial breast and ovarian cancer D001943||non hereditary sporadic breast cancer D009362||invasive cancer D030342||congenital disease 300100||impairment of very long chain fatty acids beta oxidation D015785||x linked progressive degeneration of the choroid and retina D001943||hereditary breast cancer D008538||oromandibular dystonia D004421||dystonic 613779||deficiency of c3 613779||c3 deficiency D006417||haematuria 613779||c3 deficient C536575||borjeson forssman lehmann syndrome syndrome D018901||peroxisomal disease D030342||mendelian disease D004194||multifactorial diseases D012512||ewing family of tumors D008545||malignant melanoma of soft parts D058405||desmoplastic small round cell tumors D015324||pc portland deficiency D000592||disorder of amino acid metabolism D003117||abnormal color vision D000326||and its companion D025063||contiguous gene defects D015783||familial aniridia D061325||hereditary breast ovarian cancer D001943|D061325||breast cancer breast ovarian cancer D061325||hereditary breast ovarian cancer syndrome D002493||central nervous system symptoms C537181||chroeoathetosis D009128||spasticity D004401||dysarthric speech D003117||abnormalities in the vision blindness genes D019636||autosomal dominant neurodegenerative disorder D025861||genetic bleeding disorders D015179||benign colorectal tumors D000013||multiple congenital anomalies C538068||essential fructosuria C538068||deficiency of hepatic fructokinase 262400||growth hormone gh deficiency D009136||dystrophic process D010859||cutaneous and ocular pigmentation D017496||hypopigmented D020279+D035583||rare sex linked recessive dysmyelinating disease of the central nervous system D061325||familial breast and ovarian cancers D058495||dm protein kinase gene haploinsufficiency D020388||dmd defects D009135||muscle disease 125700||familial neurohypophyseal diabetes insipidus 125700||deficiency of the hormone arginine vasopressin D009136||golden retriever muscular dystrophy D011125||adenomatous polyposis coli gene D058499||photoreceptor dystrophies D030342||genetic deficiency D004194||multisystemic disease D009135||myopathic D030342||inherited disorders 609536||deficiency of the fifth component of complement D006069||gonococcal infection 609536||deficiency of c5 313900||x linked congenital thrombocytopenia 313900||congenital x linked thrombocytopenia 613779||deficiency of the third component of complement D005921||mesangiopathic glomerulonephritis D007239||pyogenic infections D009422||neurodevelopmentally handicapped D007027||hypothalamic abnormalities D009468+D030342||inherited neuromuscular disease C537277||deficiency of glycosyl phosphatidylinositol gpi anchored proteins C537277||gpi anchor deficiency D016111||deficient activity of fatty aldehyde dehydrogenase D018256||adenomatous polyps in the colon D018149||impaired glucose tolerance 312080||x linked pelizaeus merzbacher disease D061325||hereditary breast or ovarian cancer D010534||primary peritoneal cancer D012175||bilateral and unilateral retinoblastoma D025861||inherited bleeding disorder D010661||mild hyperphenylalaninemia 261600||pah deficient D006521||autoimmune chronic active hepatitis 614380+614379||c4 deficiency D005124||autosomal dominant congenital disorder of the eye D016870||bacteremic infections due to neisseria D004673||disseminated gonococcal infection 610102||absence of functional c7 610102||complete absence of c7 D016870||bacteremic neisseria infections D014973||tendinous xanthomas D009468||neuromuscular disorder D020388||x linked duchenne muscular dystrophy D015179||sporadic colorectal cancers D018222||familial adenomatous polyposis desmoids 125700||autosomal recessive familial neurohypophyseal diabetes insipidus 125700||arginine vasopressin avp deficiency D009410||neuronal damage 125700||deficiency of active arginine vasopressin C536353||very long chain acyl coa dehydrogenase vlcad deficiency D058499||vitreoretinal dystrophy C531604||visual loss D015211||zellweger spectrum of disease D000326||adrenoleukodystrophy protein deficiency D030342||inherited defects D005693||classical galactosemia D015783||absence of iris D008047||pits and or sinuses of the lower lip C531732||bifid uvula D000848||h D002971|D002972||clefts 613779||hereditary deficiency of the third component of complement 613779||decreased synthesis of c3 613779||inherited c3 deficiency D003110|D008175||colon cancer lung cancer D009369||mcf 7 tumors D008232|D007154||disorder of lymphocyte homeostasis disorder of immunological tolerance 313900||x linked recessive thrombocytopenia D007154||immunological abnormalities 313900||x linked recessive thrombocytopenic disorder D014947||muscular injury C536528||autosomal dominant clefting condition D009078||mucous cysts C536528||lower lip pits D002971|D002972||clefts to the lip and or palate D002971|D002972||cleft lip and or palate D011471||advanced prostate cancers D011471||metastatic prostate cancer D011471||advanced prostate cancer C536309||atrophy of the retinal pigment epithelium D008268||choriocapillaris of the macula 180020||cone dysfunction D020271||autosomal recessive neurodegenerative disorder D001523||psychiatric disorders D013167||bechterew s syndrome C538273+D001168|C538273+D007592||entero arthropathy D058566||sacro iliitis D014606||acute anterior uveitis D007592||arthropathy D007249+D030342||hereditary multifocal relapsing inflammation 612446||deficiency of the sixth component of complement D020141||haemostasis abnormality D020141||hemostatic abnormalities D006319||congenital sensorineural hearing loss D003638||congenital deafness 600791||widened vestibular aqueduct D003638||congenital hearing loss D007759||inner ear morphological anomaly D016537||deficiency of acid beta galactosidase D018376||cardiac abnormalities D020022||genetic lesions D007645||keratosis palmoplantaris D010510||periodontopathia D017488||hyperkeratosis D018455||protein s deficiency type i D018455||type i protein s deficiency D007645||palmoplantar hyperkeratosis D056784||white matter lesions D001284||cerebral atrophy D003072||cognitive dysfunction C536353||vlcad deficient C536353||deficiency of the normal very long chain acyl coenzyme a dehydrogenase protein D020271||neurogenetic disease D009123||infantile hypotonia D006058||gonadal hypoplasia D000326||adolescent adrenoleukodystrophy D000224||addison only D030342||trinucleotide repeat disorders D061325||familial breast ovarian cancer D010051|D001943||ovarian cancer breast cancer D001943|D011471||breast cancer prostate cancer D000008+D002277||intra abdominal carcinomatosis D061325||inherited breast and ovarian cancer D019465||autosomal dominant craniofacial disorder D014564||urogenital aberrations D007966||deficiency of arylsulfatase a 274400||iodide transport defect D014842||von willebrand disease type b D040181||x chromosome linked human disease D007926||absence of hypoxanthine guanine phosphoribosyltransferase hprt activity 300323||partial deficiencies of hypoxanthine guanine phosphoribosyltransferase activity 255125||iron sulfur protein deficiency D030342||cag polyglutamine repeat disease D030342||polyglutamine disease D009461||neuronal dysfunction D001168||peripheral arthritis D015535||peripheral psoriatic arthritis D011218||familial prader willi syndrome 610102||absence of the seventh component of complement D008589||chronic meningococcemia 610102||deficiency of c7 D016870||chronic neisserial infection D007153||hypocomplementemia 300323||hypoxanthine guanine phosphoribosyltransferase deficiencies D007926||lesch nyhan syndrome syndrome 613825||congenital deficiency of the c9 component of complement D008586||purulent meningitis D008585||acute meningococcal meningitis D007153||impairment of cellular immunity D004406||immunoglobulin deficiency 613825||complete deficiency of the c9 component 613825||complete c9 deficiency D007153||complement defect D016870||bacterial especially neisserial infections D014564||genital anomalies D019190||excess iron deposits D008103||hepatic fibrosis D000435||excessive alcohol consumption D005234||microvesicular steatosis D010859||skin pigmentation D006130||postnatal growth deficiency D015862+D058499||chorioretinal dystrophy C531604||visual deterioration D015785||hereditary retinopathies D003117||phenotypic color vision defects D003117||color vision anomalies D012512||ewing tumors D034721||systemic diseases D007153||congenital complement deficiencies 610102||deficiencies of c7 D007153||immunologic abnormalities D005621||frataxin deficiency D030342+D019636||autosomal recessive cardiodegenerative disease neurodegenerative disease D028361||mitochondrial iron accumulation D004194||hypersensitivity to oxidative stress