Global list of rare disorders 11p partial monosomy syndrome17p11.2 microduplication syndrome2-aminoadipic 2-oxoadipic aciduria21q22.11q22.12 microdeletion syndrome22q11.2 deletion syndrome3 beta-Hydroxysteroid dehydrogenase deficiency3-hydroxy-3-methylglutaryl-CoA synthase deficiency3-hydroxyisobutyryl-CoA hydrolase deficiency3-M syndrome3-methylcrotonyl-CoA carboxylase 1 deficiency3-methylcrotonyl-CoA carboxylase 2 deficiency3-methylglutaconic aciduria type 13-Methylglutaconic aciduria type 23-Methylglutaconic aciduria type 33-methylglutaconic aciduria type 53-methylglutaconic aciduria type 83-methylglutaconic aciduria type 93-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome3-methylglutaconic aciduria, type VIIA3-methylglutaconic aciduria, type VIIB3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency3M syndrome 13M syndrome 23M syndrome 33MC syndrome3MC syndrome 13MC syndrome 23MC syndrome 346 XX gonadal dysgenesis46,XX ovarian dysgenesis-short stature syndrome46,XX ovotesticular disorder of sex development46,XX sex reversal 146,XX sex reversal 246,XX sex reversal 446,XX testicular disorder of sex development46,XY disorder of sex development due to testicular 17,20-desmolase deficiency46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome46,XY partial gonadal dysgenesis46,XY sex reversal 146,XY sex reversal 1046,XY sex reversal 1146,XY sex reversal 246,XY sex reversal 346,XY sex reversal 546,XY sex reversal 646,XY sex reversal 746,XY sex reversal 94p partial monosomy syndrome5-Oxoprolinase deficiency6-Pyruvoyl-tetrahydrobiopterin synthase deficiency8q24.3 microdeletion syndromeA20 haploinsufficiencyA4GALT-congenital disorder of glycosylationAApoAI amyloidosisAARS1-related leukoencephalopathyAarskog syndromeABCA4-related retinopathyAbdominal obesity-metabolic syndrome 3Abdominal obesity-metabolic syndrome 4ABeta amyloidosis, Arctic typeABeta amyloidosis, dutch typeABeta amyloidosis, Iowa typeABeta amyloidosis, Italian typeABetaA21G amyloidosisABetaL34V amyloidosisAbetalipoproteinaemiaAblepharon macrostomia syndromeAbortive cerebellar ataxiaABri amyloidosisAbruzzo-Erickson syndromeAcatalasiaACD-related telomere biology disorderAcetazolamide-responsive myotoniaAchalasia-progeroid syndromeAcheiropodiaAchondrogenesis type IIAchondrogenesis, type IAAchondrogenesis, type IBAchondroplasiaAchromatopsiaAchromatopsia 2Achromatopsia 3Achromatopsia 4Achromatopsia 7Acid phosphatase deficiencyAcinar dysplasia caused by mutation in FGF10Acinar dysplasia caused by mutation in FGFR2Acinar dysplasia caused by mutation in TBX4ACO2-related optic atrophy with or without extraocular featuresAcquired hemoglobin H diseaseAcquired partial lipodystrophyAcquired polycythemia veraAcral dystrophic epidermolysis bullosaAcral peeling skin syndromeAcral self-healing collodion babyAcrocallosal syndromeAcrocapitofemoral dysplasiaAcrocephalosyndactyly type IAcrodermatitis continua suppurativa of HallopeauAcrodysostosisAcrodysostosis 1 with or without hormone resistanceAcrodysostosis 2 with or without hormone resistanceAcroerythrokeratodermaAcrofacial dysostosis Cincinnati typeAcrofacial dysostosis Rodriguez typeAcrokerato-elastoidosisAcrokeratosis verruciformis of HopfAcromelic frontonasal dysostosisAcromesomelic dysplasia 1, Maroteaux typeAcromesomelic dysplasia 2BAcromesomelic dysplasia 2C, Hunter-Thompson typeAcromesomelic dysplasia 3Acromesomelic dysplasia 4Acromicric dysplasiaAcroosteolysis-keloid-like lesions-premature aging syndromeACTB-associated syndromic thrombocytopeniaACTC1-related distal arthrogryposis with congenital heart diseaseACTH-independent macronodular adrenal hyperplasia 1ACTH-independent macronodular adrenal hyperplasia 2ACTH-independent macronodular adrenal hyperplasia 3Actin accumulation myopathyAction myoclonus-renal failure syndromeACTN2-related cardiac and skeletal myopathyAcute fatty liver of pregnancyAcute febrile neutrophilic dermatosisAcute infantile liver failure due to synthesis defect of mtDNA-encoded proteinsAcute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeAcute intermittent porphyriaAcute lymphoid leukemiaAcute mast cell leukemiaAcute megakaryoblastic leukemia in down syndromeAcute myeloblastic leukemia with maturationAcute myeloblastic leukemia without maturationAcute myeloid leukemiaAcute myeloid leukemia with CEBPA somatic mutationsAcute myeloid leukemia with minimal differentiationAcute myeloid leukemia with multilineage dysplasiaAcute myeloid leukemia with NPM1 somatic mutationsAcute neonatal citrullinemia type IAcute promyelocytic leukemiaAcyl-CoA dehydrogenase 9 deficiencyAcyl-CoA oxidase deficiencyADAM9-related retinopathyAdams-Oliver syndromeAdams-Oliver syndrome 1Adams-Oliver syndrome 2Adams-Oliver syndrome 3Adams-Oliver syndrome 4Adams-Oliver syndrome 5Adams-Oliver syndrome 6ADan amyloidosisADAR-related type 1 interferonopathyAdenine phosphoribosyltransferase deficiencyAdenoid ameloblastomaAdenosine kinase deficiencyAdenosine monophosphate deaminase deficiencyAdenylosuccinate lyase deficiencyAdermatoglyphiaADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorderAdrenal cortex carcinomaAdrenocortical carcinoma, hereditaryAdrenoleukodystrophyAdrenomyeloneuropathyAdult hepatocellular carcinomaAdult hypophosphatasiaAdult Krabbe diseaseAdult polyglucosan body diseaseADULT syndromeAdult-onset autosomal dominant demyelinating leukodystrophyAdult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyAdult-onset citrullinemia type IAdult-onset distal myopathy due to VCP mutationAdult-onset foveomacular vitelliform dystrophyAdult-onset progressive leukoencephalopathy-early-onset deafnessAdult-onset proximal spinal muscular atrophy, autosomal dominantAdult-onset Steinert myotonic dystrophyAdvance sleep phase syndrome, familial, 4Advanced sleep phase syndromeAdvanced sleep phase syndrome 1Advanced sleep phase syndrome 2Advanced sleep phase syndrome 3AFG2B-related complex neurodevelopmental disorder with motor features and hearing lossAFG3L2-related optic atrophy and/or spastic ataxia spectrumAFib amyloidosisAgammaglobulinemia 10, autosomal dominantAgammaglobulinemia 2, autosomal recessiveAgammaglobulinemia 3, autosomal recessiveAgammaglobulinemia 4, autosomal recessiveAgammaglobulinemia 5, autosomal dominantAgammaglobulinemia 6, autosomal recessiveAgammaglobulinemia 7, autosomal recessiveAgammaglobulinemia 8, autosomal dominantAgammaglobulinemia 8b, autosomal recessiveAgammaglobulinemia 9, autosomal recessiveAganglionic megacolonAge related macular degeneration 1Age related macular degeneration 11Age related macular degeneration 12Age related macular degeneration 14Age related macular degeneration 2Age related macular degeneration 4Age related macular degeneration 6Age related macular degeneration 7Age related macular degeneration 8Age related macular degeneration 9Agenesis of the corpus callosum with peripheral neuropathyAggressive systemic mastocytosisAgnathia-otocephaly complexAHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndromeAICA-ribosiduriaAicardi Goutieres syndromeAicardi-Goutieres syndrome 1Aicardi-Goutieres syndrome 2Aicardi-Goutieres syndrome 3Aicardi-Goutieres syndrome 4Aicardi-Goutieres syndrome 5Aicardi-Goutieres syndrome 6Aicardi-Goutieres syndrome 7Aicardi-Goutieres syndrome 8Aicardi-Goutieres syndrome 9AIPL1-related retinopathyAKT2-related familial partial lipodystrophyAKT3-related overgrowth spectrumAl Kaissi syndromeAl-Gazali syndromeAl-Raqad syndromeAlacrima, achalasia, and intellectual disability syndromeAlagille syndrome due to a JAG1 point mutationAlagille syndrome due to a NOTCH2 point mutationAland island eye diseaseAlanine glyoxylate aminotransferase deficiencyALDH18A1-related de Barsy syndromeAldosterone-producing adenoma with seizures and neurological abnormalitiesAlexander diseaseAlexander disease type IAlexander disease type IIALG1-congenital disorder of glycosylationALG10-congenital disorder of glycosylationALG11-congenital disorder of glycosylationALG12-congenital disorder of glycosylationALG14-congenital disorder of glycosylationALG2-congenital disorder of glycosylationALG3-congenital disorder of glycosylationALG6-congenital disorder of glycosylation 1CALG8 congenital disorder of glycosylationALG9 congenital disorder of glycosylationALG9-associated autosomal dominant polycystic kidney diseaseALK-positive anaplastic large cell lymphomaAlkaline ceramidase 3 deficiencyAlkaptonuriaAlkuraya-Kucinskas syndromeAlkylglycerone-phosphate synthase deficiencyAllan-Herndon-Dudley syndromeAlobar holoprosencephalyAlopecia - intellectual disability syndromeAlopecia universalis congenitaAlopecia-intellectual disability syndrome 4Alpha ThalassemiaAlpha thalassemia-X-linked intellectual disability syndromeAlpha-1-antitrypsin deficiencyAlpha-2-plasmin inhibitor deficiencyAlpha-actinopathyAlpha-mannosidosis, adult formAlpha-mannosidosis, infantile formAlpha-methylacyl-CoA racemase deficiencyAlpha-N-acetylgalactosaminidase deficiency type 1Alpha-N-acetylgalactosaminidase deficiency type 2Alpha-N-acetylgalactosaminidase deficiency type 3Alpha, alpha-Trehalase deficiencyALPI-related inflammatory bowel diseaseAlport syndrome 3b, autosomal recessiveALS2-related motor neuron diseaseAlstrom syndromeAlternating hemiplegia of childhoodAlternating hemiplegia of childhood 1Alternating hemiplegia of childhood 2Alveolar capillary dysplasia with pulmonary venous misalignmentAlveolar rhabdomyosarcomaAlveolar soft part sarcomaALys amyloidosisAlzahrani-Kuwahara syndromeAlzheimer disease 17Alzheimer disease 18Alzheimer disease 3Alzheimer disease 4Alzheimer disease type 1AMED syndrome, digenicAmelocerebrohypohidrotic syndromeAmelogenesis imperfecta - hypoplastic autosomal dominant - localAmelogenesis imperfecta hypomaturation type 2A2Amelogenesis imperfecta hypomaturation type 2A3Amelogenesis imperfecta hypomaturation type 2A4Amelogenesis imperfecta hypomaturation type 2A5Amelogenesis imperfecta type 1Amelogenesis imperfecta type 1AAmelogenesis imperfecta type 1CAmelogenesis imperfecta type 1EAmelogenesis imperfecta type 1FAmelogenesis imperfecta type 1GAmelogenesis imperfecta type 1HAmelogenesis imperfecta type 2Amelogenesis imperfecta type 2A1Amelogenesis imperfecta type 3BAmelogenesis imperfecta, hypocalcification typeAmelogenesis imperfecta, hypomaturation type, IIa6Amelogenesis imperfecta, IIa 1KAmelogenesis imperfecta, type 1JAmelogenesis imperfecta, type 3AAmelogenesis imperfecta, type 3CAminoacylase 1 deficiencyAminoglycoside-induced deafnessAmish lethal microcephalyAmyloidosis cutis dyschromiaAmyloidosis, hereditary systemic 1Amyloidosis, hereditary systemic 5Amyloidosis, hereditary systemic 6Amyloidosis, primary localized cutaneous, 1Amyloidosis, primary localized cutaneous, 2Amyloidosis, primary localized cutaneous, 3Amyotrophic lateral sclerosisAmyotrophic lateral sclerosis 26 with or without frontotemporal dementiaAmyotrophic lateral sclerosis 27, juvenileAmyotrophic lateral sclerosis 28Amyotrophic lateral sclerosis type 1Amyotrophic lateral sclerosis type 10Amyotrophic lateral sclerosis type 11Amyotrophic lateral sclerosis type 12Amyotrophic lateral sclerosis type 15Amyotrophic lateral sclerosis type 16Amyotrophic lateral sclerosis type 18Amyotrophic lateral sclerosis type 19Amyotrophic lateral sclerosis type 2, juvenileAmyotrophic lateral sclerosis type 20Amyotrophic lateral sclerosis type 21Amyotrophic lateral sclerosis type 22Amyotrophic lateral sclerosis type 23Amyotrophic lateral sclerosis type 4Amyotrophic lateral sclerosis type 5Amyotrophic lateral sclerosis type 6Amyotrophic lateral sclerosis type 8Amyotrophic lateral sclerosis type 9Amyotrophic lateral sclerosis-parkinsonism-dementia complexAmyotrophic neuralgiaAnastomosing haemangiomaAnauxetic dysplasiaAnauxetic dysplasia 1Anauxetic dysplasia 2Anauxetic dysplasia 3Andersen Tawil syndromeAndrogen resistance syndromeANE syndromeAnemia, congenital dyserythropoietic, type 1aAnemia, congenital dyserythropoietic, type IIIb, autosomal recessiveAnemia, congenital dyserythropoietic, type IVbAnemia, nonspherocytic hemolytic, due to G6PD deficiencyAnemia, sideroblastic, 5Anencephaly 1Aneurysm-osteoarthritis syndromeAneurysm, intracranial berry, 12Angel-shaped phalango-epiphyseal dysplasiaAngelman syndromeAngelman syndrome due to a point mutationAngioedema, hereditary, 4Angioedema, hereditary, 5Angioedema, hereditary, 6Angioedema, hereditary, 7Angioedema, hereditary, 8Angiomatoid fibrous histiocytomaAnhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndromeAniridia 1Aniridia 2Aniridia 3Ankyloblepharon filiforme adnatum-cleft palate syndromeAnkyloblepharon-ectodermal defects-cleft lip/palate syndromeAnnular epidermolytic ichthyosisAnonychiaAnophthalmia/microphthalmia-esophageal atresia syndromeAnterior segment dysgenesis 1Anterior segment dysgenesis 3Anterior segment dysgenesis 4Anterior segment dysgenesis 6Anterior segment dysgenesis 7Anterior segment dysgenesis 8Antley-Bixler syndrome with genital anomalies and disordered steroidogenesisAntley-Bixler syndrome without genital anomalies or disordered steroidogenesisAortic aneurysm, familial thoracic 10Aortic aneurysm, familial thoracic 12Aortic aneurysm, familial thoracic 4Aortic aneurysm, familial thoracic 6Aortic aneurysm, familial thoracic 7Aortic aneurysm, familial thoracic 8Aortic aneurysm, familial thoracic 9Aortic valve disease 1Aortic valve disease 2Aortic valve disease 3Aplasia cutis congenitaAplastic anemiaApolipoprotein A-II amyloidosisApolipoprotein c-III deficiencyApparent mineralocorticoid excessArginase deficiencyArginine:glycine amidinotransferase deficiencyArgininosuccinate lyase deficiencyARL6-related ciliopathyArmfield syndromeAromatase deficiencyAromatase excess syndromeArrhinia with choanal atresia and microphthalmia syndromeArrhythmogenic cardiomyopathy with wooly hair and keratodermaArrhythmogenic right ventricular dysplasia 1Arrhythmogenic right ventricular dysplasia 10Arrhythmogenic right ventricular dysplasia 11Arrhythmogenic right ventricular dysplasia 12Arrhythmogenic right ventricular dysplasia 13Arrhythmogenic right ventricular dysplasia 5Arrhythmogenic right ventricular dysplasia 8Arrhythmogenic right ventricular dysplasia 9Arrhythmogenic right ventricular dysplasia, familial, 14Arterial calcification of infancyArterial calcification, generalized, of infancy, 1Arterial calcification, generalized, of infancy, 2Arterial tortuosity syndromeArthrogryposis multiplex congenita 1, neurogenic, with myelin defectArthrogryposis multiplex congenita 2, neurogenic typeArthrogryposis multiplex congenita 3, myogenic typeArthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosumArthrogryposis multiplex congenita 5Arthrogryposis multiplex congenita 6Arthrogryposis multiplex congenita 7, X-linkedArthrogryposis with renal dysfunction and cholestasis syndromeArthrogryposis- oculomotor limitation-electroretinal anomalies syndromeArthrogryposis-like syndromeArthrogryposis, cleft palate, craniosynostosis, and impaired intellectual developmentArthrogryposis, distal, IIa 11Arthrogryposis, distal, type 12Arthrogryposis, distal, type 1AArthrogryposis, distal, type 1BArthrogryposis, distal, type 1CArthrogryposis, distal, type 2B2Arthrogryposis, distal, type 2B3Arthrogryposis, distal, with impaired proprioception and touchArthrogryposis, renal dysfunction, and cholestasis 1Arthrogryposis, renal dysfunction, and cholestasis 2Arts syndromeASAH1-related sphingolipidosisAspartylglucosaminuriaAsphyxiating thoracic dystrophy 2Asphyxiating thoracic dystrophy 3Asphyxiating thoracic dystrophy 4Asphyxiating thoracic dystrophy 5Asymptomatic hyperckemia-myalgia-rhabdomyolysis syndromeAtaxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndromeAtaxia - oculomotor apraxia type 4Ataxia - telangiectasia variantAtaxia with oculomotor apraxia type 3Ataxia-hypogonadism-choroidal dystrophy syndromeAtaxia-pancytopenia syndromeAtaxia-telangiectasia syndromeAtaxia-telangiectasia-like disorder 1Ataxia-telangiectasia-like disorder 2Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemiaAteleiotic dwarfismAtelis syndrome 1Atelis syndrome 2Atelosteogenesis type IAtelosteogenesis type IIAtelosteogenesis type IIIATF6-related retinopathyATM-related cancer predispositionATP6AP2-related disorderAtransferrinemiaAtrial conduction diseaseAtrial fibrillation, familial, 10Atrial fibrillation, familial, 11Atrial fibrillation, familial, 12Atrial fibrillation, familial, 13Atrial fibrillation, familial, 14Atrial fibrillation, familial, 15Atrial fibrillation, familial, 18Atrial fibrillation, familial, 3Atrial fibrillation, familial, 4Atrial fibrillation, familial, 6Atrial fibrillation, familial, 7Atrial fibrillation, familial, 8Atrial fibrillation, familial, 9Atrial septal defect 2Atrial septal defect 3Atrial septal defect 4Atrial septal defect 5Atrial septal defect 6Atrial septal defect 7Atrial septal defect 8Atrial septal defect 9Atrial septal defect, ostium primum typeAtrial septal defect, ostium secundum typeAtrial standstillAtrial standstill 1Atrial standstill 2Atrichia with papular lesionsAtrioventricular septal defect 4Atrioventricular septal defect 5Atrophia bulborum hereditariaAtrophoderma vermiculatumAttenuated Chédiak-Higashi syndromeAttenuated familial adenomatous polyposisATTRV122I amyloidosisAtypical chronic myeloid leukemia, BCR-ABL1 negativeAtypical dentin dysplasia due to SMOC2 deficiencyAtypical Fanconi syndrome-neonatal hyperinsulinism syndromeAtypical glycine encephalopathyAtypical hemolytic uremic syndrome with complement gene abnormalityAtypical hemolytic-uremic syndrome with B factor anomalyAtypical hemolytic-uremic syndrome with C3 anomalyAtypical hemolytic-uremic syndrome with DGKE deficiencyAtypical hemolytic-uremic syndrome with I factor anomalyAtypical hemolytic-uremic syndrome with MCP/CD46 anomalyAtypical hemolytic-uremic syndrome with thrombomodulin anomalyAtypical juvenile parkinsonismAtypical pantothenate kinase-associated neurodegenerationAtypical Rett syndromeAtypical teratoid rhabdoid tumorAtypical Werner syndromeAu-Kline syndromeAuditory neuropathy-optic atrophy syndromeAuditory neuropathy, autosomal dominant 2Auditory neuropathy, autosomal dominant 3Aural atresia, congenitalAuriculocondylar syndromeAuriculocondylar syndrome 1Auriculocondylar syndrome 2Auriculocondylar syndrome 2BAuriculocondylar syndrome 3Auriculocondylar syndrome 4Autism spectrum disorder - epilepsy - arthrogryposis syndromeAutism spectrum disorder due to AUTS2 deficiencyAutoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndromeAutoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndromeAutoimmune interstitial lung disease-arthritis syndromeAutoimmune lymphoproliferative syndromeAutoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiencyAutoimmune lymphoproliferative syndrome type 1Autoimmune lymphoproliferative syndrome type 2AAutoimmune lymphoproliferative syndrome type 2BAutoimmune lymphoproliferative syndrome type 4Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCDAutoinflammation with episodic fever and lymphadenopathyAutoinflammation-PLCG2-associated antibody deficiency-immune dysregulationAutoinflammation, panniculitis, and dermatosis syndrome, autosomal recessiveAutoinflammatory disease, multisystem, with immune dysregulation, X-linkedAutoinflammatory disease, systemic, with vasculitisAutoinflammatory disease, X-linkedAutoinflammatory syndrome with immunodeficiencyAutoinflammatory syndrome with pyogenic bacterial infection and amylopectinosisAutoinflammatory syndrome, familial, Behcet-like 1Autoinflammatory syndrome, familial, X-linked, Behcet-like 2Autosomal agammaglobulinemiaAutosomal dominant Alport syndromeAutosomal dominant aplasia and myelodysplasiaAutosomal dominant auditory neuropathy 1Autosomal dominant centronuclear myopathyAutosomal dominant cerebellar ataxia, deafness and narcolepsyAutosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutationAutosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutationAutosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutationAutosomal dominant Charcot-Marie-Tooth disease type 2KAutosomal dominant Charcot-Marie-Tooth disease type 2MAutosomal dominant Charcot-Marie-Tooth disease type 2WAutosomal dominant childhood-onset proximal spinal muscular atrophy with contracturesAutosomal dominant childhood-onset proximal spinal muscular atrophy without contracturesAutosomal dominant combined immunodeficiency due to ERBIN deficiencyAutosomal dominant combined immunodeficiency due to partial IL6ST deficiencyAutosomal dominant complex spastic paraplegia type 9BAutosomal dominant deafness - onychodystrophy syndromeAutosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndromeAutosomal dominant distal renal tubular acidosisAutosomal dominant Emery-Dreifuss muscular dystrophyAutosomal dominant epilepsy with auditory featuresAutosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndromeAutosomal dominant hyperinsulinism due to Kir6.2 deficiencyAutosomal dominant hyperinsulinism due to SUR1 deficiencyAutosomal dominant hypocalcemiaAutosomal dominant hypocalcemia 1Autosomal dominant hypocalcemia 2Autosomal dominant hypohidrotic ectodermal dysplasiaAutosomal dominant hypophosphatemic ricketsAutosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndromeAutosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic painAutosomal dominant isolated somatotropin deficiencyAutosomal dominant Kenny-Caffey syndromeAutosomal dominant keratitisAutosomal dominant keratitis-ichthyosis-hearing loss syndromeAutosomal dominant lamellar ichthyosisAutosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)Autosomal dominant limb-girdle muscular dystrophy type 1FAutosomal dominant limb-girdle muscular dystrophy type 1GAutosomal dominant macrothrombocytopeniaAutosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiencyAutosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiencyAutosomal dominant mitochondrial myopathy with exercise intoleranceAutosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndromeAutosomal dominant nebulin-related myopathyAutosomal dominant neovascular inflammatory vitreoretinopathyAutosomal dominant nocturnal frontal lobe epilepsyAutosomal dominant nocturnal frontal lobe epilepsy 1Autosomal dominant nocturnal frontal lobe epilepsy 3Autosomal dominant nocturnal frontal lobe epilepsy 4Autosomal dominant nocturnal frontal lobe epilepsy 5Autosomal dominant non-syndromic intellectual disabilityAutosomal dominant nonsyndromic hearing lossAutosomal dominant nonsyndromic hearing loss 1Autosomal dominant nonsyndromic hearing loss 10Autosomal dominant nonsyndromic hearing loss 11Autosomal dominant nonsyndromic hearing loss 12Autosomal dominant nonsyndromic hearing loss 13Autosomal dominant nonsyndromic hearing loss 15Autosomal dominant nonsyndromic hearing loss 17Autosomal dominant nonsyndromic hearing loss 20Autosomal dominant nonsyndromic hearing loss 21Autosomal dominant nonsyndromic hearing loss 22Autosomal dominant nonsyndromic hearing loss 23Autosomal dominant nonsyndromic hearing loss 25Autosomal dominant nonsyndromic hearing loss 27Autosomal dominant nonsyndromic hearing loss 28Autosomal dominant nonsyndromic hearing loss 2AAutosomal dominant nonsyndromic hearing loss 2BAutosomal dominant nonsyndromic hearing loss 36Autosomal dominant nonsyndromic hearing loss 3AAutosomal dominant nonsyndromic hearing loss 3BAutosomal dominant nonsyndromic hearing loss 40Autosomal dominant nonsyndromic hearing loss 41Autosomal dominant nonsyndromic hearing loss 44Autosomal dominant nonsyndromic hearing loss 48Autosomal dominant nonsyndromic hearing loss 4AAutosomal dominant nonsyndromic hearing loss 4BAutosomal dominant nonsyndromic hearing loss 5Autosomal dominant nonsyndromic hearing loss 50Autosomal dominant nonsyndromic hearing loss 56Autosomal dominant nonsyndromic hearing loss 6Autosomal dominant nonsyndromic hearing loss 64Autosomal dominant nonsyndromic hearing loss 65Autosomal dominant nonsyndromic hearing loss 66Autosomal dominant nonsyndromic hearing loss 67Autosomal dominant nonsyndromic hearing loss 68Autosomal dominant nonsyndromic hearing loss 69Autosomal dominant nonsyndromic hearing loss 7Autosomal dominant nonsyndromic hearing loss 70Autosomal dominant nonsyndromic hearing loss 9Autosomal dominant omodysplasiaAutosomal dominant optic atrophy classic formAutosomal dominant optic atrophy plus syndromeAutosomal dominant osteopetrosis 1Autosomal dominant osteopetrosis 2Autosomal dominant palmoplantar keratoderma and congenital alopeciaAutosomal dominant Parkinson disease 1Autosomal dominant Parkinson disease 4Autosomal dominant Parkinson disease 8Autosomal dominant polycystic liver diseaseAutosomal dominant popliteal pterygium syndromeAutosomal dominant preaxial polydactyly-upperback hypertrichosis syndromeAutosomal dominant primary microcephalyAutosomal dominant progressive external ophthalmoplegiaAutosomal dominant pseudohypoaldosteronism type 1Autosomal dominant rhegmatogenous retinal detachmentAutosomal dominant Robinow syndromeAutosomal dominant Robinow syndrome 1Autosomal dominant Robinow syndrome 2Autosomal dominant Robinow syndrome 3Autosomal dominant sensory ataxia 1Autosomal dominant severe congenital neutropeniaAutosomal dominant sideroblastic anemiaAutosomal dominant slowed nerve conduction velocityAutosomal dominant spondylocostal dysostosisAutosomal dominant striatal neurodegeneration type 1Autosomal dominant vibratory urticariaAutosomal dominant vitreoretinochoroidopathyAutosomal dominant wooly hairAutosomal erythropoietic protoporphyriaAutosomal recessive agammaglobulinemia 1Autosomal recessive Alport syndromeAutosomal recessive ameliaAutosomal recessive ataxia due to PEX10 deficiencyAutosomal recessive ataxia due to PEX16 deficiencyAutosomal recessive ataxia due to PEX2 deficiencyAutosomal recessive ataxia due to ubiquinone deficiencyAutosomal recessive ataxia, Beauce typeAutosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defectAutosomal recessive axonal neuropathy with neuromyotoniaAutosomal recessive bestrophinopathyAutosomal recessive brachyolmiaAutosomal recessive centronuclear myopathyAutosomal recessive cerebellar ataxia with late-onset spasticityAutosomal recessive cerebellar ataxia-saccadic intrusion syndromeAutosomal recessive cerebral atrophyAutosomal recessive combined immunodeficiency due to complete IL6ST deficiencyAutosomal recessive combined immunodeficiency due to IL6R deficiencyAutosomal recessive combined immunodeficiency due to partial IL6ST deficiencyAutosomal recessive complex spastic paraplegia due to kennedy pathway dysfunctionAutosomal recessive complex spastic paraplegia type 9BAutosomal recessive congenital ichthyosis 1Autosomal recessive congenital ichthyosis 10Autosomal recessive congenital ichthyosis 11Autosomal recessive congenital ichthyosis 2Autosomal recessive congenital ichthyosis 3Autosomal recessive congenital ichthyosis 4AAutosomal recessive congenital ichthyosis 4BAutosomal recessive congenital ichthyosis 5Autosomal recessive congenital ichthyosis 6Autosomal recessive congenital ichthyosis 8Autosomal recessive congenital ichthyosis 9Autosomal recessive cutis laxa type 1Autosomal recessive cutis laxa type 2, classic typeAutosomal recessive cutis laxa type 2BAutosomal recessive cutis laxa type 2CAutosomal recessive cutis laxa type 2DAutosomal recessive distal renal tubular acidosisAutosomal recessive distal spinal muscular atrophy 1Autosomal recessive distal spinal muscular atrophy 2Autosomal recessive DOPA responsive dystoniaAutosomal recessive early-onset Parkinson disease 23Autosomal recessive early-onset Parkinson disease 6Autosomal recessive early-onset Parkinson disease 7Autosomal recessive epidermolytic ichthyosisAutosomal recessive extra-oral halitosisAutosomal recessive familial Mediterranean feverAutosomal recessive hyperinsulinism due to Kir6.2 deficiencyAutosomal recessive hyperinsulinism due to SUR1 deficiencyAutosomal recessive hypohidrotic ectodermal dysplasia syndromeAutosomal recessive hypophosphatemic bone diseaseAutosomal recessive hypophosphatemic vitamin D refractory ricketsAutosomal recessive infantile hypercalcemiaAutosomal recessive inherited pseudoxanthoma elasticumAutosomal recessive juvenile Parkinson disease 2Autosomal recessive Kenny-Caffey syndromeAutosomal recessive keratitis-ichthyosis-deafness syndromeAutosomal recessive limb-girdle muscular dystrophy type 2AAutosomal recessive limb-girdle muscular dystrophy type 2BAutosomal recessive limb-girdle muscular dystrophy type 2CAutosomal recessive limb-girdle muscular dystrophy type 2DAutosomal recessive limb-girdle muscular dystrophy type 2EAutosomal recessive limb-girdle muscular dystrophy type 2FAutosomal recessive limb-girdle muscular dystrophy type 2GAutosomal recessive limb-girdle muscular dystrophy type 2IAutosomal recessive limb-girdle muscular dystrophy type 2JAutosomal recessive limb-girdle muscular dystrophy type 2KAutosomal recessive limb-girdle muscular dystrophy type 2LAutosomal recessive limb-girdle muscular dystrophy type 2MAutosomal recessive limb-girdle muscular dystrophy type 2NAutosomal recessive limb-girdle muscular dystrophy type 2OAutosomal recessive limb-girdle muscular dystrophy type 2PAutosomal recessive limb-girdle muscular dystrophy type 2QAutosomal recessive limb-girdle muscular dystrophy type 2R1Autosomal recessive limb-girdle muscular dystrophy type 2TAutosomal recessive limb-girdle muscular dystrophy type 2UAutosomal recessive limb-girdle muscular dystrophy type 2WAutosomal recessive limb-girdle muscular dystrophy type 2XAutosomal recessive limb-girdle muscular dystrophy type 2YAutosomal recessive limb-girdle muscular dystrophy type R18Autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiencyAutosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiencyAutosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiencyAutosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiencyAutosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiencyAutosomal recessive multiple pterygium syndromeAutosomal recessive myogenic arthrogryposis multiplex congenitaAutosomal recessive non-syndromic intellectual disabilityAutosomal recessive nonsyndromic hearing loss 101Autosomal recessive nonsyndromic hearing loss 102Autosomal recessive nonsyndromic hearing loss 103Autosomal recessive nonsyndromic hearing loss 104Autosomal recessive nonsyndromic hearing loss 12Autosomal recessive nonsyndromic hearing loss 124Autosomal recessive nonsyndromic hearing loss 15Autosomal recessive nonsyndromic hearing loss 16Autosomal recessive nonsyndromic hearing loss 18AAutosomal recessive nonsyndromic hearing loss 18BAutosomal recessive nonsyndromic hearing loss 1AAutosomal recessive nonsyndromic hearing loss 1BAutosomal recessive nonsyndromic hearing loss 2Autosomal recessive nonsyndromic hearing loss 21Autosomal recessive nonsyndromic hearing loss 22Autosomal recessive nonsyndromic hearing loss 23Autosomal recessive nonsyndromic hearing loss 24Autosomal recessive nonsyndromic hearing loss 25Autosomal recessive nonsyndromic hearing loss 26Autosomal recessive nonsyndromic hearing loss 28Autosomal recessive nonsyndromic hearing loss 29Autosomal recessive nonsyndromic hearing loss 3Autosomal recessive nonsyndromic hearing loss 30Autosomal recessive nonsyndromic hearing loss 31Autosomal recessive nonsyndromic hearing loss 32Autosomal recessive nonsyndromic hearing loss 35Autosomal recessive nonsyndromic hearing loss 36Autosomal recessive nonsyndromic hearing loss 37Autosomal recessive nonsyndromic hearing loss 39Autosomal recessive nonsyndromic hearing loss 4Autosomal recessive nonsyndromic hearing loss 42Autosomal recessive nonsyndromic hearing loss 44Autosomal recessive nonsyndromic hearing loss 48Autosomal recessive nonsyndromic hearing loss 49Autosomal recessive nonsyndromic hearing loss 53Autosomal recessive nonsyndromic hearing loss 59Autosomal recessive nonsyndromic hearing loss 6Autosomal recessive nonsyndromic hearing loss 61Autosomal recessive nonsyndromic hearing loss 63Autosomal recessive nonsyndromic hearing loss 66Autosomal recessive nonsyndromic hearing loss 67Autosomal recessive nonsyndromic hearing loss 68Autosomal recessive nonsyndromic hearing loss 7Autosomal recessive nonsyndromic hearing loss 70Autosomal recessive nonsyndromic hearing loss 74Autosomal recessive nonsyndromic hearing loss 76Autosomal recessive nonsyndromic hearing loss 77Autosomal recessive nonsyndromic hearing loss 79Autosomal recessive nonsyndromic hearing loss 8Autosomal recessive nonsyndromic hearing loss 84AAutosomal recessive nonsyndromic hearing loss 84BAutosomal recessive nonsyndromic hearing loss 86Autosomal recessive nonsyndromic hearing loss 88Autosomal recessive nonsyndromic hearing loss 89Autosomal recessive nonsyndromic hearing loss 9Autosomal recessive nonsyndromic hearing loss 91Autosomal recessive nonsyndromic hearing loss 93Autosomal recessive nonsyndromic hearing loss 97Autosomal recessive nonsyndromic hearing loss 98Autosomal recessive omodysplasiaAutosomal recessive optic atrophy, OPA7 typeAutosomal recessive osteopetrosisAutosomal recessive osteopetrosis 1Autosomal recessive osteopetrosis 2Autosomal recessive osteopetrosis 4Autosomal recessive osteopetrosis 5Autosomal recessive osteopetrosis 6Autosomal recessive osteopetrosis 7Autosomal recessive osteopetrosis 8Autosomal recessive palmoplantar keratoderma and congenital alopeciaAutosomal recessive Parkinson disease 14Autosomal recessive polycystic kidney diseaseAutosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicityAutosomal recessive primary microcephalyAutosomal recessive progressive external ophthalmoplegiaAutosomal recessive proximal renal tubular acidosisAutosomal recessive Robinow syndromeAutosomal recessive secondary polycythemia not associated with VHL geneAutosomal recessive severe congenital neutropenia due to CSF3R deficiencyAutosomal recessive severe congenital neutropenia due to CXCR2 deficiencyAutosomal recessive severe congenital neutropenia due to G6PC3 deficiencyAutosomal recessive severe congenital neutropenia due to JAGN1 deficiencyAutosomal recessive sideroblastic anemiaAutosomal recessive spastic paraplegia type 59Autosomal recessive spastic paraplegia type 60Autosomal recessive spastic paraplegia type 66Autosomal recessive spastic paraplegia type 67Autosomal recessive spastic paraplegia type 69Autosomal recessive spastic paraplegia type 70Autosomal recessive spastic paraplegia type 71Autosomal recessive spastic paraplegia type 76Autosomal recessive spastic paraplegia type 78Autosomal recessive spinocerebellar ataxia 10Autosomal recessive spinocerebellar ataxia 11Autosomal recessive spinocerebellar ataxia 12Autosomal recessive spinocerebellar ataxia 13Autosomal recessive spinocerebellar ataxia 14Autosomal recessive spinocerebellar ataxia 15Autosomal recessive spinocerebellar ataxia 16Autosomal recessive spinocerebellar ataxia 17Autosomal recessive spinocerebellar ataxia 18Autosomal recessive spinocerebellar ataxia 2Autosomal recessive spinocerebellar ataxia 20Autosomal recessive spinocerebellar ataxia 7Autosomal recessive spondylocostal dysostosisAutosomal recessive spondylometaphyseal dysplasia, Megarbane typeAutosomal semi-dominant severe lipodystrophic laminopathyAutosomal systemic lupus erythematosus type 16Avascular necrosis of femoral head, primary, 1Avascular necrosis of femoral head, primary, 2Avellino corneal dystrophyAxenfeld anomalyAxenfeld-Rieger syndromeAxenfeld-Rieger syndrome type 1Axenfeld-Rieger syndrome type 3Axial spondylometaphyseal dysplasiaAXIN2-related attenuated familial adenomatous polyposisAyme-Gripp syndromeAzorean diseaseB-cell chronic lymphocytic leukemiaB-cell immunodeficiency, distal limb anomalies, and urogenital malformationsB-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)B3GALT6-congenital disorder of glycosylationB4GALT1-congenital disorder of glycosylationBailey-Bloch congenital myopathyBaller-Gerold syndromeBamforth-Lazarus syndromeBand heterotopia of brainBannayan-Riley-Ruvalcaba syndromeBAP1-related tumor predisposition syndromeBaraitser-Winter syndromeBaraitser-Winter syndrome 1Baraitser-winter syndrome 2Barber-Say syndromeBARD1-related cancer predispositionBardet-Biedl syndromeBardet-Biedl syndrome 1Bardet-Biedl syndrome 10Bardet-Biedl syndrome 11Bardet-Biedl syndrome 12Bardet-Biedl syndrome 13Bardet-Biedl syndrome 14Bardet-Biedl syndrome 15Bardet-Biedl syndrome 16Bardet-Biedl syndrome 17Bardet-Biedl syndrome 18Bardet-Biedl syndrome 19Bardet-Biedl syndrome 2Bardet-Biedl syndrome 20Bardet-biedl syndrome 21Bardet-Biedl syndrome 22Bardet-Biedl syndrome 3Bardet-Biedl syndrome 4Bardet-Biedl syndrome 5Bardet-Biedl syndrome 6Bardet-Biedl syndrome 7Bardet-Biedl syndrome 8Bardet-Biedl syndrome 9Bartsocas-Papas syndrome 1Bartsocas-Papas syndrome 2Bartter disease type 1Bartter disease type 2Bartter disease type 3Bartter disease type 4ABartter disease type 4BBartter disease type 5Bartter syndrome type 4Basal cell nevus syndrome 1Basal cell nevus syndrome 2Basal ganglia calcification, idiopathic, 10, autosomal recessiveBasal ganglia calcification, idiopathic, 4Basal ganglia calcification, idiopathic, 5Basal ganglia calcification, idiopathic, 6Basal ganglia calcification, idiopathic, 7, autosomal recessiveBasal ganglia calcification, idiopathic, 8, autosomal recessiveBasal ganglia calcification, idiopathic, 9, autosomal recessiveBasal laminar drusenBasan syndromeBasilicata-Akhtar syndromeBathing suit ichthyosisBatten-Turner congenital myopathyBBS1-related ciliopathyBBS10-related ciliopathyBBS12-related ciliopathyBBS2-related ciliopathyBBS5-related ciliopathyBBS7-related ciliopathyBBS9-related ciliopathyBDV syndromeBeare-Stevenson cutis gyrata syndromeBeck-Fahrner syndromeBecker muscular dystrophyBecker nevus syndromeBeckwith-Wiedemann syndromeBeckwith-Wiedemann syndrome due to CDKN1C mutationBeckwith-Wiedemann syndrome due to NSD1 mutationBehavioral variant of frontotemporal dementiaBenign adult familial myoclonic epilepsyBenign concentric annular macular dystrophyBenign familial infantile epilepsyBenign hereditary choreaBenign neonatal seizuresBenign paroxysmal tonic upgaze of childhood with ataxiaBenign paroxysmal torticollis of infancyBenign recurrent intrahepatic cholestasis type 1Benign recurrent intrahepatic cholestasis type 2Benign Samaritan congenital myopathyBent bone dysplasia syndrome 1Bent bone dysplasia syndrome 2BENTA diseaseBerardinelli-Seip congenital lipodystrophyBernard Soulier syndromeBernard-Soulier syndrome, type A2, autosomal dominantBEST1-related dominant retinopathyBEST1-related recessive retinopathyBEST1-related vitreoretinochoroidopathyBeta thalassemia intermediaBeta-D-mannosidosisBeta-thalassemia HBB/LCRBBeta-thalassemia majorBeta-thalassemia-X-linked thrombocytopenia syndromeBethlem myopathyBethlem myopathy 1ABethlem myopathy 1BBethlem myopathy 1CBethlem myopathy 2Bietti crystalline corneoretinal dystrophyBifunctional peroxisomal enzyme deficiencyBilateral frontoparietal polymicrogyriaBilateral generalized polymicrogyriaBilateral microtia-deafness-cleft palate syndromeBilateral multicystic dysplastic kidneyBilateral parasagittal parieto-occipital polymicrogyriaBilateral renal agenesisBilateral renal dysplasiaBilateral striopallidodentate calcinosisBile acid CoA:amino acid N-acyltransferase deficiencyBimanual synkinesiaBiotin-responsive basal ganglia diseaseBiotinidase deficiencyBirk-Barel syndromeBirt-Hogg-Dube syndrome 1Blau syndromeBleeding diathesis due to thromboxane synthesis deficiencyBleeding disorder, platelet-type, 21Bleeding disorder, platelet-type, 22Bleeding disorder, platelet-type, 24Bleeding disorder, platelet-type, 25Blepharocheilodontic syndromeBlepharocheilodontic syndrome 1Blepharocheilodontic syndrome 2Blepharophimosis - intellectual disability syndrome, MKB typeBlepharophimosis - intellectual disability syndrome, SBBYS typeBlepharophimosis-impaired intellectual development syndromeBlepharophimosis-ptosis-epicanthus inversus syndrome type 1Blepharophimosis-ptosis-epicanthus inversus syndrome type 2Blepharophimosis, ptosis, and epicanthus inversus syndromeBloom syndromeBlue color blindnessBlue rubber bleb nevusBNAR syndromeBody skin hyperlaxity due to vitamin K-dependent coagulation factor deficiencyBohring-Opitz syndromeBone fragility with contractures, arterial rupture, and deafnessBone marrow failure syndrome 3Bone marrow failure syndrome 4Bone marrow failure syndrome 5Bone marrow failure syndrome 6Bone osteosarcomaBoomerang dysplasiaBorjeson-Forssman-Lehmann syndromeBosch-Boonstra-Schaaf optic atrophy syndromeBosley-Salih-Alorainy syndromeBothnia retinal dystrophyBowen-Conradi syndromeBrachydactyly type A1Brachydactyly type A1CBrachydactyly type A1DBrachydactyly type B1Brachydactyly type B2Brachydactyly type CBrachydactyly type DBrachydactyly type EBrachydactyly type E1Brachydactyly type E2Brachydactyly-arterial hypertension syndromeBrachydactyly-elbow wrist dysplasia syndromeBrachydactyly-syndactyly syndromeBrachyolmia-amelogenesis imperfecta syndromeBrachyrachia (short spine dysplasia)BradyopsiaBrain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutationBrain dopamine-serotonin vesicular transport diseaseBrain small vessel disease 1 with or without ocular anomaliesBrain small vessel disease 3Brain-lung-thyroid syndromeBranched-chain keto acid dehydrogenase kinase deficiencyBranchiooculofacial syndromeBranchiootic syndromeBranchiootic syndrome 1Branchiootic syndrome 3Branchiootorenal syndrome 1Branchiootorenal syndrome 2BRCA1-related cancer predispositionBRCA2-related cancer predispositionBreast implant-associated anaplastic large cell lymphomaBreasts and/or nipples, aplasia or hypoplasia of, 2BRESEK syndromeBrittle cornea syndromeBrittle cornea syndrome 1Brittle cornea syndrome 2Brody myopathyBronchiectasis with or without elevated sweat chloride 1Bronchiectasis with or without elevated sweat chloride 2Bronchiectasis with or without elevated sweat chloride 3Brooke-Spiegler syndromeBrown-Vialetto-van Laere syndrome 1Brown-Vialetto-van Laere syndrome 2Bruck syndromeBruck syndrome 1Bruck syndrome 2Brugada syndromeBrugada syndrome 1Brugada syndrome 2Brugada syndrome 3Brugada syndrome 4Brugada syndrome 5Brugada syndrome 6Brugada syndrome 7Brugada syndrome 8Brugada syndrome 9Brunner syndromeBudd-Chiari syndromeBullous diffuse cutaneous mastocytosisBullous pyoderma gangrenosumBuratti-Harel syndromeBurkitt lymphomaButterfly-shaped pigment dystrophyC syndromeC1 inhibitor deficiencyC11orf73-related autosomal recessive hypomyelinating leukodystrophyC1Q deficiency 1C1Q deficiency 2C1Q deficiency 3C3 glomerulonephritisCACNA1A-related complex neurodevelopmental disorderCACNA1F-related retinopathyCACNA2D4-related retinopathyCADINS diseaseCafe au lait spots, multipleCafé-au-lait macules with pulmonary stenosisCalvarial doughnut lesions-bone fragility syndromeCAMOS syndromeCamptodactyly-arthropathy-coxa vara-pericarditis syndromeCamptodactyly-tall stature-scoliosis-hearing loss syndromeCamptomelic dysplasiaCamurati-Engelmann diseaseCandidiasis, familial, 6Candidiasis, familial, 8Candidiasis, familial, 9Cap myopathyCapillary malformation-arteriovenous malformation 1Capillary malformation-arteriovenous malformation 2CARASIL syndromeCarcinoma of esophagusCardiac anomalies - developmental delay - facial dysmorphism syndromeCardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutationCardiac arrhythmia, ankyrin-B-relatedCardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesCardiac valvular dysplasia, X-linkedCardiac-urogenital syndromeCardio-facio-cutaneous syndromeCardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4Cardiofaciocutaneous syndrome 1Cardiofaciocutaneous syndrome 2Cardiofaciocutaneous syndrome 3Cardiofaciocutaneous syndrome 4Cardiomyopathy-hypotonia-lactic acidosis syndromeCardiomyopathy, dilated, 100Cardiomyopathy, dilated, 2cCardiomyopathy, dilated, 2DCardiomyopathy, dilated, 2ECardiomyopathy, dilated, 2FCardiomyopathy, dilated, 2GCardiomyopathy, dilated, 2HCardiomyopathy, dilated, 2ICardiomyopathy, dilated, 2jCardiomyopathy, dilated, 2KCardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesisCardiomyopathy, familial hypertrophic 27Cardiomyopathy, familial hypertrophic, 28Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodiesCardiomyopathy, familial hypertrophic, 30, atrialCardiomyopathy, familial restrictive, 1Cardiomyopathy, familial restrictive, 3Cardiomyopathy, familial restrictive, 6Cardiospondylocarpofacial syndromeCarey-Fineman-Ziter syndrome 1Carey-Fineman-Ziter syndrome 2Carney complexCarney complex - trismus - pseudocamptodactyly syndromeCarney complex, type 1Carney-Stratakis syndromeCarnitine acylcarnitine translocase deficiencyCarnitine palmitoyl transferase 1A deficiencyCarnitine palmitoyl transferase II deficiency, myopathic formCarnitine palmitoyl transferase II deficiency, neonatal formCarnitine palmitoyl transferase II deficiency, severe infantile formCaroli diseaseCarpal tunnel syndrome 1Carpal tunnel syndrome 2Carpenter syndromeCat eye syndromeCataract - microcornea syndromeCataract 1 multiple typesCataract 10 multiple typesCataract 11 multiple typesCataract 13 with adult I phenotypeCataract 14 multiple typesCataract 15 multiple typesCataract 16 multiple typesCataract 17 multiple typesCataract 18Cataract 19 multiple typesCataract 20 multiple typesCataract 21 multiple typesCataract 22 multiple typesCataract 23Cataract 3 multiple typesCataract 30Cataract 31 multiple typesCataract 33Cataract 34 multiple typesCataract 38Cataract 39 multiple typesCataract 4 multiple typesCataract 40Cataract 41Cataract 42Cataract 43Cataract 44Cataract 45Cataract 46 juvenile-onsetCataract 48Cataract 5 multiple typesCataract 6 multiple typesCataract 9 multiple typesCataract-glaucoma syndromeCataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndromeCatecholaminergic polymorphic ventricular tachycardiaCatecholaminergic polymorphic ventricular tachycardia 1Catecholaminergic polymorphic ventricular tachycardia 2Catecholaminergic polymorphic ventricular tachycardia 3Catecholaminergic polymorphic ventricular tachycardia 4Catecholaminergic polymorphic ventricular tachycardia 5Catel-Manzke syndromeCathepsin a-related arteriopathy-strokes-leukoencephalopathyCaudal duplicationCaudal regression sequenceCaveolinopathyCayman type cerebellar ataxiaCBL-related disorderCCDC115-CDGCCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndromeCDH1-related diffuse gastric and lobular breast cancer syndromeCDKL5 disorderCEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndromeCEDNIK syndromeCELSR1-related late-onset primary lymphedemaCenani-Lenz syndactyly syndromeCentral areolar choroidal dystrophyCentral core myopathyCentral hypoventilation syndrome, congenital, 1, with or without Hirschsprung diseaseCentral nervous system calcification-deafness-tubular acidosis-anemia syndromeCentral precocious puberty 1Centromeric instability of chromosomes 1,9 and 16 and immunodeficiencyCEP164-related ciliopathyCEP290-related ciliopathyCerebellar ataxia with neuropathy and bilateral vestibular areflexia syndromeCerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndromeCerebellar ataxia-hypogonadism syndromeCerebellar ataxia, brain abnormalities, and cardiac conduction defectsCerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4Cerebellar atrophy, visual impairment, and psychomotor retardation;Cerebellar dysfunction with variable cognitive and behavioral abnormalitiesCerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndromeCerebellar-facial-dental syndromeCerebral amyloid angiopathy, APP-relatedCerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2Cerebral arteriovenous malformationCerebral cavernous malformation 1Cerebral cavernous malformation 2Cerebral cavernous malformation 3Cerebral cavernous malformation 4Cerebral cavernous malformations 5Cerebral folate transport deficiencyCerebral palsy, spastic quadriplegic, 2Cerebral palsy, spastic quadriplegic, 3Cerebro-costo-mandibular syndromeCerebrooculofacioskeletal syndrome 1Cerebrooculofacioskeletal syndrome 2Cerebrooculofacioskeletal syndrome 3Cerebrooculofacioskeletal syndrome 4Cerebroretinal microangiopathy with calcifications and cysts 1Cerebroretinal microangiopathy with calcifications and cysts 2Cerebroretinal microangiopathy with calcifications and cysts 3CERKL-related retinopathyCernunnos-XLF deficiencyCeroid lipofuscinosis, neuronal, 4 (Kufs type)Ceroid lipofuscinosis, neuronal, 6ACeroid lipofuscinosis, neuronal, 6B (Kufs type)CFAP46-related primary ciliary dyskinesiaCFTR-related metabolic syndromeChannelopathy-associated congenital insensitivity to pain, autosomal recessiveChar syndromeCharcot-Marie-Tooth disease axonal type 2CCharcot-Marie-Tooth disease axonal type 2CCCharcot-Marie-Tooth disease axonal type 2FCharcot-Marie-Tooth disease axonal type 2KCharcot-Marie-Tooth disease axonal type 2LCharcot-Marie-Tooth disease axonal type 2NCharcot-Marie-Tooth disease axonal type 2OCharcot-Marie-Tooth disease axonal type 2PCharcot-Marie-Tooth disease axonal type 2QCharcot-Marie-Tooth disease axonal type 2SCharcot-Marie-Tooth disease axonal type 2TCharcot-Marie-Tooth disease axonal type 2UCharcot-Marie-Tooth disease axonal type 2VCharcot-Marie-Tooth disease axonal type 2XCharcot-Marie-Tooth disease axonal type 2ZCharcot-Marie-Tooth disease dominant intermediate BCharcot-Marie-Tooth disease dominant intermediate CCharcot-Marie-Tooth disease dominant intermediate DCharcot-Marie-Tooth disease dominant intermediate ECharcot-Marie-Tooth disease dominant intermediate FCharcot-Marie-Tooth disease recessive intermediate ACharcot-Marie-Tooth disease recessive intermediate BCharcot-Marie-Tooth disease recessive intermediate CCharcot-Marie-Tooth disease recessive intermediate DCharcot-Marie-Tooth disease type 1BCharcot-Marie-Tooth disease type 1CCharcot-Marie-Tooth disease type 1DCharcot-Marie-Tooth disease type 1ECharcot-Marie-Tooth disease type 1FCharcot-Marie-Tooth disease type 2A1Charcot-Marie-Tooth disease type 2A2Charcot-Marie-Tooth disease type 2BCharcot-Marie-Tooth disease type 2B1Charcot-Marie-Tooth disease type 2B2Charcot-Marie-Tooth disease type 2B5Charcot-Marie-Tooth disease type 2DCharcot-Marie-Tooth disease type 2ECharcot-Marie-Tooth disease type 2ICharcot-Marie-Tooth disease type 2JCharcot-Marie-Tooth disease type 2RCharcot-Marie-Tooth disease type 2TCharcot-Marie-Tooth disease type 2YCharcot-Marie-Tooth disease type 4ACharcot-Marie-Tooth disease type 4B1Charcot-Marie-Tooth disease type 4B2Charcot-Marie-Tooth disease type 4B3Charcot-Marie-Tooth disease type 4CCharcot-Marie-Tooth disease type 4DCharcot-Marie-Tooth disease type 4ECharcot-Marie-Tooth disease type 4FCharcot-Marie-Tooth disease type 4GCharcot-Marie-Tooth disease type 4HCharcot-Marie-Tooth disease type 4JCharcot-Marie-Tooth disease type 4KCharcot-Marie-Tooth disease type 5Charcot-Marie-Tooth disease X-linked dominant 1Charcot-Marie-Tooth disease X-linked dominant 6Charcot-Marie-Tooth disease X-linked recessive 4Charcot-Marie-Tooth disease X-linked recessive 5Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;Charcot-Marie-Tooth disease, axonal, IIa 2IICharcot-Marie-tooth disease, axonal, type 2DDCharcot-Marie-Tooth disease, axonal, type 2EECharcot-Marie-Tooth disease, axonal, type 2FFCharcot-Marie-Tooth Disease, axonal, type 2GGCharcot-Marie-Tooth disease, axonal, Type 2HHCharcot-Marie-tooth disease, axonal, type 2JJCharcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessiveCharcot-Marie-Tooth disease, demyelinating, IIA 1HCharcot-Marie-Tooth disease, demyelinating, IIA 1ICharcot-Marie-Tooth disease, demyelinating, type 1GCharcot-Marie-Tooth disease, demyelinating, type 1JCharcot-Marie-Tooth disease, dominant intermediate GCharcot-Marie-Tooth disease, type IACHARGE syndromeCharlevoix-Saguenay spastic ataxiaCHD7-related CHARGE syndromeChédiak-Higashi syndromeCHEK2-related cancer predispositionChiari type I malformationChilblain lupus 1Chilblain lupus 2Child syndromeChildhood apraxia of speechChildhood encephalopathy due to thiamine pyrophosphokinase deficiencyChildhood hypophosphatasiaChildhood onset GLUT1 deficiency syndrome 2Childhood-onset autosomal recessive myopathy with external ophthalmoplegiaChildhood-onset benign chorea with striatal involvementChildhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderChildhood-onset nemaline myopathyChildhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndromeChildhood-onset Steinert myotonic dystrophyCHIME syndromeChoanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndromeChoanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndromeCholangiocarcinomaCholestanol storage diseaseCholestasis-pigmentary retinopathy-cleft palate syndromeCholestasis, intrahepatic, of pregnancy, 1Cholestasis, intrahepatic, of pregnancy, 3Cholestasis, progressive familial intrahepatic, 10Cholestasis, progressive familial intrahepatic, 11Cholestasis, progressive familial intrahepatic, 12Cholestasis, progressive familial intrahepatic, 13Cholestasis, progressive familial intrahepatic, 4Cholestasis, progressive familial intrahepatic, 5Cholestasis, progressive familial intrahepatic, 6Cholestasis, progressive familial intrahepatic, 7, with or without hearing lossCholestasis, progressive familial intrahepatic, 8Cholestasis, progressive familial intrahepatic, 9Cholesterol-ester transfer protein deficiencyCholesteryl ester storage diseaseChondrocalcinosis 2Chondrodysplasia Blomstrand typeChondrodysplasia punctata 2 X-linked dominantChondrodysplasia with joint dislocations, gPAPP typeChondrodysplasia-pseudohermaphroditism syndromeChondrosarcomaChoreaChorea-acanthocytosisChoroid plexus carcinomaChoroid plexus papillomaChoroidal dystrophy, central areolar 2ChoroideremiaChoroideremia-deafness-obesity syndromeChristianson syndromeChromosome 15q13.3 microdeletion syndromeChromosome 15q24 deletion syndromeChromosome 16p12.1 deletion syndrome, 520kbChromosome 1q21.1 deletion syndromeChromosome 2p16.3 deletion syndromeChromosome 2q32-q33 deletion syndromeChromosome 2q37 deletion syndromeChromosome 5q12 deletion syndromeChromosome Xq28 duplication syndromeChronic atrial and intestinal dysrhythmiaChronic enteropathy associated with SLCO2A1 geneChronic granulomatous diseaseChronic infantile neurological, cutaneous and articular syndromeChronic lymphoproliferative disorder of NK-cellsChronic mast cell leukemiaChronic mucocutaneous candidiasisChronic myelogenous leukemia, BCR-ABL1 positiveChronic neutrophilic leukemiaChronic respiratory distress with surfactant metabolism deficiencyChudley-McCullough syndromeChuvash polycythemiaChylomicron retention diseaseCIDEC-related familial partial lipodystrophyCiliary dyskinesia, primary, 36, X-linkedCiliary dyskinesia, primary, 37Ciliary dyskinesia, primary, 38Ciliary dyskinesia, primary, 39Ciliary dyskinesia, primary, 40Ciliary dyskinesia, primary, 41Ciliary dyskinesia, primary, 42Ciliary dyskinesia, primary, 43Ciliary dyskinesia, primary, 44Ciliary dyskinesia, primary, 45Ciliary dyskinesia, primary, 46Ciliary dyskinesia, primary, 47, and lissencephalyCiliary dyskinesia, primary, 48, without situs inversusCiliary dyskinesia, primary, 49, without situs inversusCiliary dyskinesia, primary, 50Ciliary dyskinesia, primary, 51Ciliary dyskinesia, primary, 52Ciliary dyskinesia, primary, 53Ciliary dyskinesia, primary, 54Cirrhosis, familialCitrullinemia type ICitrullinemia type IICitrullinemia, type II, adult-onsetCK syndromeCLAPO syndromeClark-Baraitser syndromeClassic congenital adrenal hyperplasia due to 21-hydroxylase deficiencyClassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting formClassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing formClassic congenital lipoid adrenal hyperplasia due to STAR deficencyClassic dopamine transporter deficiency syndromeClassic Hodgkin lymphomaClassic homocystinuriaClassic multiminicore myopathyClassic pantothenate kinase-associated neurodegenerationClassic pyoderma gangrenosumClassical maple syrup urine diseaseClassical phenylketonuriaClear cell sarcoma of kidneyCleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndromeCleft lip/palateCleft lip/palate-ectodermal dysplasia syndromeCleft palate with or without ankyloglossia, X-linkedCleidocranial dysostosisCLOVES syndromeCNGA1-related retinopathyCNGA3-related retinopathyCNGB1-related retinopathyCNGB3-related retinopathyCOACH syndromeCOACH syndrome 1COACH syndrome 2COACH syndrome 3Coats plus syndromeCobalamin C diseaseCobblestone lissencephaly without muscular or ocular involvementCockayne syndrome type 1Cockayne syndrome type 2Cockayne syndrome type 3Cocoon syndromeCODAS syndromeCoenzyme Q10 deficiency, primary, 1Coenzyme Q10 deficiency, primary, 3Coenzyme q10 deficiency, primary, 9Coffin-Lowry syndromeCoffin-Siris syndromeCoffin-Siris syndrome 1Coffin-Siris syndrome 10Coffin-Siris syndrome 11Coffin-Siris syndrome 12Coffin-Siris syndrome 5Coffin-Siris syndrome 6Coffin-Siris syndrome 7Coffin-Siris syndrome 8COFS syndromeCOG1 congenital disorder of glycosylationCOG4-congenital disorder of glycosylationCOG5-congenital disorder of glycosylationCOG6-congenital disorder of glycosylationCOG7 congenital disorder of glycosylationCOG8-congenital disorder of glycosylationCognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndromeCohen syndromeCohen-Gibson syndromeCOL1A1-related Ehlers-Danlos syndromeCOL1A2-related Ehlers-Danlos syndromeCOL1A2-related osteogenesis imperfectaCOL2A1-related spondyloepiphyseal dysplasiaCold-induced sweating syndromeCold-induced sweating syndrome 1Cold-induced sweating syndrome 2Cole-Carpenter syndromeCole-Carpenter syndrome 1Cole-Carpenter syndrome 2Coloboma of choroid and retinaColoboma of maculaColoboma of optic nerveColoboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafnessColobomatous macrophthalmia-microcornea syndromeColobomatous microphthalmia-rhizomelic dysplasia syndromeColobomatous optic disc-macular atrophy-chorioretinopathy syndromeColorectal cancer, hereditary nonpolyposis, type 2Colorectal cancer, hereditary nonpolyposis, type 6Colorectal cancer, hereditary nonpolyposis, type 7Combined ApoA-I and ApoC-III deficiencyCombined deficiency of factor V and factor VIIICombined deficiency of sialidase AND beta galactosidaseCombined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemiaCombined immunodeficiency due to CD3gamma deficiencyCombined immunodeficiency due to DOCK8 deficiencyCombined immunodeficiency due to GINS1 deficiencyCombined immunodeficiency due to LRBA deficiencyCombined immunodeficiency due to MALT1 deficiencyCombined immunodeficiency due to moesin deficiencyCombined immunodeficiency due to ORAI1 deficiencyCombined immunodeficiency due to OX40 deficiencyCombined immunodeficiency due to partial RAG1 deficiencyCombined immunodeficiency due to RELA haploinsufficiencyCombined immunodeficiency due to STIM1 deficiencyCombined immunodeficiency due to STK4 deficiencyCombined immunodeficiency due to TBX1 deficiencyCombined immunodeficiency due to ZAP70 deficiencyCombined immunodeficiency with faciooculoskeletal anomaliesCombined immunodeficiency with skin granulomasCombined immunodeficiency, X-linkedCombined malonic and methylmalonic acidemiaCombined osteogenesis imperfecta and Ehlers-Danlos syndrome 1Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2Combined oxidative phosphorylation defect type 11Combined oxidative phosphorylation defect type 13Combined oxidative phosphorylation defect type 14Combined oxidative phosphorylation defect type 15Combined oxidative phosphorylation defect type 17Combined oxidative phosphorylation defect type 2Combined oxidative phosphorylation defect type 20Combined oxidative phosphorylation defect type 21Combined oxidative phosphorylation defect type 23Combined oxidative phosphorylation defect type 24Combined oxidative phosphorylation defect type 25Combined oxidative phosphorylation defect type 26Combined oxidative phosphorylation defect type 27Combined oxidative phosphorylation defect type 30Combined oxidative phosphorylation defect type 4Combined oxidative phosphorylation defect type 7Combined oxidative phosphorylation defect type 8Combined oxidative phosphorylation defect type 9Combined oxidative phosphorylation deficiency 19Combined oxidative phosphorylation deficiency 22Combined oxidative phosphorylation deficiency 28Combined oxidative phosphorylation deficiency 29Combined oxidative phosphorylation deficiency 32Combined oxidative phosphorylation deficiency 33Combined oxidative phosphorylation deficiency 34Combined oxidative phosphorylation deficiency 35Combined oxidative phosphorylation deficiency 36Combined oxidative phosphorylation deficiency 37Combined oxidative phosphorylation deficiency 38Combined oxidative phosphorylation deficiency 39Combined oxidative phosphorylation deficiency 40Combined oxidative phosphorylation deficiency 41Combined oxidative phosphorylation deficiency 42Combined oxidative phosphorylation deficiency 43Combined oxidative phosphorylation deficiency 44Combined oxidative phosphorylation deficiency 45Combined oxidative phosphorylation deficiency 46Combined oxidative phosphorylation deficiency 47Combined oxidative phosphorylation deficiency 48Combined oxidative phosphorylation deficiency 51Combined oxidative phosphorylation deficiency 52Combined oxidative phosphorylation deficiency 53Combined oxidative phosphorylation deficiency 54Combined oxidative phosphorylation deficiency 55Combined oxidative phosphorylation deficiency 56Combined oxidative phosphorylation deficiency 57Combined oxidative phosphorylation deficiency 58Combined oxidative phosphorylation deficiency 59Combined pituitary hormone deficiencies, genetic formCombined PSAP deficiencyCommissural facial cleftComplement component 2 deficiencyComplement component 3 deficiencyComplement component 4a deficiencyComplement component 4b deficiencyComplement component 5 deficiencyComplement component 6 deficiencyComplement component 7 deficiencyComplement component 9 deficiencyComplement component C1s deficiencyComplete androgen insensitivity syndromeComplete atrioventricular canal-tetralogy of fallot syndromeComplete atrioventricular canal-ventricle hypoplasia syndromeComplete cryptophthalmiaComplete hydatidiform moleComplex cortical dysplasia with other brain malformations 1Complex cortical dysplasia with other brain malformations 7Complex lethal osteochondrodysplasiaCompton-North congenital myopathyCone dystrophyCone dystrophy 3Cone dystrophy 4Cone dystrophy with supernormal rod responseCone monochromatismCone-rod dystrophyCone-rod dystrophy 10Cone-rod dystrophy 11Cone-rod dystrophy 12Cone-rod dystrophy 13Cone-rod dystrophy 15Cone-rod dystrophy 16Cone-rod dystrophy 18Cone-rod dystrophy 19Cone-rod dystrophy 2Cone-rod dystrophy 20Cone-rod dystrophy 21Cone-rod dystrophy 22Cone-rod dystrophy 24Cone-rod dystrophy 3Cone-rod dystrophy 5Cone-rod dystrophy 6Cone-rod dystrophy 9Cone-rod synaptic disorder, congenital nonprogressiveCongenital absence of salivary glandCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyCongenital adrenal hypoplasia, X-linkedCongenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiencyCongenital afibrinogenemiaCongenital alveolar dysplasia due to FGF10Congenital alveolar dysplasia due to TBX4Congenital amegakaryocytic thrombocytopenia 1Congenital analbuminemiaCongenital anomalies of kidney and urinary tract 1Congenital anomalies of kidney and urinary tract 2Congenital anomalies of kidney and urinary tract 3Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayCongenital anosmiaCongenital autosomal recessive small-platelet thrombocytopeniaCongenital bilateral absence of vas deferensCongenital bilateral aplasia of vas deferens from CFTR mutationCongenital bilateral perisylvian syndromeCongenital bile acid synthesis defect 1Congenital bile acid synthesis defect 2Congenital bile acid synthesis defect 3Congenital bile acid synthesis defect 4Congenital bile acid synthesis defect 5Congenital bile acid synthesis defect 6Congenital blue dot cataractCongenital brain dysgenesis due to glutamine synthetase deficiencyCongenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndromeCongenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndromeCongenital cataract-severe neonatal hepatopathy-global developmental delay syndromeCongenital cataracts-facial dysmorphism-neuropathy syndromeCongenital cerebellar ataxia due to RNU12 mutationCongenital cerebellar hypoplasiaCongenital communicating hydrocephalusCongenital contractural arachnodactylyCongenital contractures of the limbs and face, hypotonia, and developmental delayCongenital defect of folate absorptionCongenital diarrhea 5 with tufting enteropathyCongenital diarrhea 6Congenital diarrhea 7 with exudative enteropathyCongenital disorder of deglycosylation 1Congenital disorder of deglycosylation 2Congenital disorder of glycosylation type 1ECongenital disorder of glycosylation type 1EE with or without immunodeficiencyCongenital disorder of glycosylation type IrCongenital disorder of glycosylation with defective fucosylation 1Congenital disorder of glycosylation with defective fucosylation 2Congenital disorder of glycosylation, type 1DDCongenital disorder of glycosylation, type 2vCongenital disorder of glycosylation, type IAACongenital disorder of glycosylation, type ICCCongenital disorder of glycosylation, type IIaaCongenital disorder of glycosylation, type IIbbCongenital disorder of glycosylation, type IIqCongenital disorder of glycosylation, type IIrCongenital disorder of glycosylation, type iitCongenital disorder of glycosylation, type IIwCongenital disorder of glycosylation, type IIyCongenital disorder of glycosylation, type IIzCongenital disorder of glycosylation, type Iw, autosomal dominantCongenital dyserythropoietic anemia type 4Congenital dyserythropoietic anemia type type 1BCongenital dyserythropoietic anemia, type ICongenital dyserythropoietic anemia, type IICongenital dyserythropoietic anemia, type IIICongenital factor V deficiencyCongenital factor VII deficiencyCongenital fibrosis of extraocular musclesCongenital fibrosis of extraocular muscles type 1Congenital generalized hypercontractile muscle stiffness syndromeCongenital generalized lipodystrophy type 1Congenital generalized lipodystrophy type 2Congenital generalized lipodystrophy type 3Congenital generalized lipodystrophy type 4Congenital glucose-galactose malabsorptionCongenital heart defects and skeletal malformations syndromeCongenital heart defects, dysmorphic facial features, and intellectual developmental disorderCongenital heart defects, multiple types, 2Congenital heart defects, multiple types, 4Congenital heart defects, multiple types, 6Congenital hereditary endothelial dystrophy of corneaCongenital hereditary facial paralysis-variable hearing loss syndromeCongenital hyperammonemia, type ICongenital hypotrichosis with juvenile macular dystrophyCongenital ichthyosis-intellectual disability-spastic quadriplegia syndromeCongenital insensitivity to pain syndrome, Marsili typeCongenital insensitivity to pain with severe intellectual disabilityCongenital insensitivity to pain-hypohidrosis syndromeCongenital isolated adrenocorticotropic hormone deficiencyCongenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndromeCongenital lactase deficiencyCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeCongenital lipoid adrenal hyperplasia due to STAR deficencyCongenital livedo reticularisCongenital macrodactyliaCongenital malabsorptive diarrhea 4Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunizationCongenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndromeCongenital microvillous atrophyCongenital multicore myopathy with external ophthalmoplegiaCongenital muscular dystrophy due to integrin alpha-7 deficiencyCongenital muscular dystrophy due to LMNA mutationCongenital muscular dystrophy with cataracts and intellectual disabilityCongenital muscular dystrophy with intellectual disabilityCongenital muscular dystrophy with intellectual disability and severe epilepsyCongenital muscular dystrophy without intellectual disabilityCongenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndromeCongenital muscular hypertrophy-cerebral syndromeCongenital myasthenic syndrome 10Congenital myasthenic syndrome 11Congenital myasthenic syndrome 12Congenital myasthenic syndrome 13Congenital myasthenic syndrome 14Congenital myasthenic syndrome 15Congenital myasthenic syndrome 16Congenital myasthenic syndrome 17Congenital myasthenic syndrome 18Congenital myasthenic syndrome 19Congenital myasthenic syndrome 1ACongenital myasthenic syndrome 20Congenital myasthenic syndrome 21Congenital myasthenic syndrome 2ACongenital myasthenic syndrome 2CCongenital myasthenic syndrome 3ACongenital myasthenic syndrome 3BCongenital myasthenic syndrome 3CCongenital myasthenic syndrome 4Congenital myasthenic syndrome 4ACongenital myasthenic syndrome 4BCongenital myasthenic syndrome 4CCongenital myasthenic syndrome 5Congenital myasthenic syndrome 7Congenital myasthenic syndrome 8Congenital myasthenic syndrome 9Congenital myopathy 10b, mild variantCongenital myopathy 11Congenital myopathy 15Congenital myopathy 18Congenital myopathy 20Congenital myopathy 21 with early respiratory failureCongenital myopathy 22A, classicCongenital myopathy 22B, severe fetalCongenital myopathy 23Congenital myopathy 25Congenital myopathy 2b, severe infantile, autosomal recessiveCongenital myopathy 2c, severe infantile, autosomal dominantCongenital myopathy 4A, autosomal dominantCongenital myopathy 4B, autosomal recessiveCongenital myopathy with fiber type disproportionCongenital myopathy with internal nuclei and atypical coresCongenital myopathy with myasthenic-like onsetCongenital myopathy with reduced type 2 muscle fibersCongenital myopathy, Paradas typeCongenital myotonia, autosomal dominant formCongenital myotonia, autosomal recessive formCongenital neutropenia-myelofibrosis-nephromegaly syndromeCongenital non-communicating hydrocephalusCongenital nonbullous ichthyosiform erythrodermaCongenital nongoitrous hypothyroidism 6Congenital nonprogressive myopathy with Moebius and Robin sequencesCongenital or early infantile CACH syndromeCongenital plasminogen activator inhibitor type 1 deficiencyCongenital pontocerebellar hypoplasia type 1Congenital posterior urethral valveCongenital primary aphakiaCongenital primary lymphedema of GordonCongenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndromeCongenital prothrombin deficiencyCongenital reticular ichthyosiform erythrodermaCongenital secretory diarrhea, chloride typeCongenital secretory sodium diarrhea 3Congenital secretory sodium diarrhea 8Congenital sensory neuropathy with selective loss of small myelinated fibersCongenital short bowel syndromeCongenital short bowel syndrome, autosomal recessiveCongenital sialidosis type 2Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndromeCongenital sodium diarrheaCongenital stationary night blindnessCongenital stationary night blindness 1ACongenital stationary night blindness 1BCongenital stationary night blindness 1CCongenital stationary night blindness 1DCongenital stationary night blindness 1ECongenital stationary night blindness 1FCongenital stationary night blindness 1GCongenital stationary night blindness 1HCongenital stationary night blindness 2ACongenital stationary night blindness autosomal dominant 1Congenital stationary night blindness autosomal dominant 2Congenital stationary night blindness autosomal dominant 3Congenital stromal corneal dystrophyCongenital total cataractCongenital vertebral-cardiac-renal anomalies syndromeCongenital vertical talusCongenital vertical talus, bilateralCongenital vertical talus, unilateralCongenital-onset Steinert myotonic dystrophyConotruncal heart malformationsConstitutional megaloblastic anemia with severe neurologic diseaseContinuous spikes and waves during sleepContractures, pterygia, and spondylocarpotarsal fusion syndrome 1AContractures, pterygia, and variable skeletal fusions syndrome 1BCOQ7-related distal hereditary motor neuropathyCornea planaCornea plana 2Corneal dystrophy-perceptive deafness syndromeCorneal dystrophy, Fuchs endothelial, 1Corneal dystrophy, Fuchs endothelial, 3Corneal dystrophy, Fuchs endothelial, 4Corneal dystrophy, Fuchs endothelial, 6Corneal dystrophy, Fuchs endothelial, 8Corneal dystrophy, lattice type 3ACorneal dystrophy, Meesmann, 1Corneal dystrophy, Meesmann, 2Corneal dystrophy, posterior polymorphous, 4Corneal dystrophy, punctiform and polychromatic pre-descemetCorneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndromeCornelia de Lange syndrome 1Cornelia de Lange syndrome 3Cornelia de Lange syndrome 4Cornelia de Lange syndrome 5Cornelia de Lange syndrome 6Corpus callosum agenesis-abnormal genitalia syndromeCorpus callosum agenesis-intellectual disability-coloboma-micrognathia syndromeCortical dysplasia-focal epilepsy syndromeCorticosteroid-binding globulin deficiencyCorticosterone 18-monooxygenase deficiencyCorticosterone methyloxidase type 2 deficiencyCortisone reductase deficiencyCortisone reductase deficiency 1Cortisone reductase deficiency 2Costello syndromeCowden syndromeCowden syndrome 1Cowden syndrome 4Cowden syndrome 5Cowden syndrome 6Cowden syndrome 7Coxopodopatellar syndromeCPOX-related hereditary coproporphyriaCramp-fasciculation syndromeCraniodiaphyseal dysplasiaCraniodiaphyseal dysplasia, autosomal dominantCranioectodermal dysplasiaCranioectodermal dysplasia 1Cranioectodermal dysplasia 2Cranioectodermal dysplasia 3Cranioectodermal dysplasia 4Cranioectodermal dysplasia 5Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1Craniofacial dysplasia - osteopenia syndromeCraniofacial microsomia 1Craniofacial microsomia 2Craniofacial-deafness-hand syndromeCraniofrontonasal syndromeCraniolenticulosutural dysplasiaCraniometaphyseal dysplasiaCraniometaphyseal dysplasia, autosomal dominantCraniometaphyseal dysplasia, autosomal recessiveCranioosteoarthropathyCraniopharyngiomaCraniorachischisisCraniosynostosis 2Craniosynostosis 4Craniosynostosis 6Craniosynostosis and dental anomaliesCraniosynostosis-anal anomalies-porokeratosis syndromeCraniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndromeCraniotubular dysplasia, Ikegawa typeCreatine transporter deficiencyCrigler-Najjar syndrome type 1Crigler-Najjar syndrome, type IICrouzon syndromeCrouzon syndrome-acanthosis nigricans syndromeCRX-related retinopathyCryohydrocytosisCryptogenic multifocal ulcerous stenosing enteritisCryptophthalmos syndromeCryptosporidiosis-chronic cholangitis-liver disease syndromeCTNNA1-related diffuse gastric and lobular breast cancer syndromeCTSC-related disorderCurly hair, ankyloblepharon, nail dysplasia syndromeCurrarino triadCurry-Hall syndromeCurry-Jones syndromeCushing syndrome due to macronodular adrenal hyperplasiaCutaneous mastocytomaCutaneous mastocytosisCutaneous porphyriaCutis laxa with osteodystrophyCutis laxa with severe pulmonary, gastrointestinal and urinary anomaliesCutis laxa, autosomal dominantCutis laxa, autosomal dominant 1Cutis laxa, autosomal dominant 2Cutis laxa, autosomal dominant 3Cutis laxa, autosomal recessive, type 1ACutis laxa, autosomal recessive, type 1BCutis laxa, autosomal recessive, type 1dCutis laxa, autosomal recessive, type 2ECutis laxa, X-linkedCyclical neutropeniaCYP1B1-related glaucoma with or without anterior segment dysgenesisCYP7B1-related disorder of oxysterol accumulationCystathioninuriaCystic fibrosisCystic leukoencephalopathy without megalencephalyCystinuriaCystinuria type ACystinuria type BCytosolic phospholipase-A2 alpha deficiency associated bleeding disorderD-2-hydroxyglutaric aciduriaD-2-hydroxyglutaric aciduria 1D-2-hydroxyglutaric aciduria 2D-Glyceric aciduriaD,L-2-hydroxyglutaric aciduriaDalmatian hypouricemiaDanon diseaseDCTN1-related neurodegenerationDDX41-related hematologic malignancy predisposition syndromeDe Lange syndromeDE SANCTIS-CACCHIONE SYNDROMEDEAF1-associated neurodevelopmental disorderDeafness dystonia syndromeDeafness with labyrinthine aplasia, microtia, and microdontiaDeafness-encephaloneuropathy-obesity-valvulopathy syndromeDeafness-infertility syndromeDeafness-lymphedema-leukemia syndromeDeafness, autosomal dominant 39, with dentinogenesis imperfecta 1Deafness, Y-linked 2Deeah syndromeDeficiency in anterior pituitary function - variable immunodeficiency syndromeDeficiency of 2-methylbutyryl-CoA dehydrogenaseDeficiency of 3-hydroxyacyl-CoA dehydrogenaseDeficiency of acetyl-CoA acetyltransferaseDeficiency of adenosine deaminase 2Deficiency of alpha-mannosidaseDeficiency of aromatic-L-amino-acid decarboxylaseDeficiency of beta-ureidopropionaseDeficiency of bisphosphoglycerate mutaseDeficiency of butyryl-CoA dehydrogenaseDeficiency of butyrylcholinesteraseDeficiency of cytochrome-b5 reductaseDeficiency of ferroxidaseDeficiency of galactokinaseDeficiency of guanidinoacetate methyltransferaseDeficiency of hyaluronoglucosaminidaseDeficiency of hydroxymethylglutaryl-CoA lyaseDeficiency of iodide peroxidaseDeficiency of isobutyryl-CoA dehydrogenaseDeficiency of malonyl-CoA decarboxylaseDeficiency of phosphoserine phosphataseDeficiency of ribose-5-phosphate isomeraseDeficiency of steroid 11-beta-monooxygenaseDeficiency of steroid 17-alpha-monooxygenaseDeficiency of transaldolaseDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferaseDehydrated hereditary stomatocytosis 2Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edemaDejerine-Sottas diseaseDelpire-McNeill syndromeDelta-beta-thalassemiaDEND syndromeDent disease type 1Dent disease type 2Dentatorubral-pallidoluysian atrophyDenticlesDentin dysplasia type IDentinogenesis imperfecta type 2Dentinogenesis imperfecta type 3Dermatofibrosis lenticularis disseminataDermatopathia pigmentosa reticularisDeSanto-Shinawi syndrome due to WAC point mutationDesbuquois dysplasia 1Desbuquois dysplasia 2Desbuquois syndromeDesmin-related myofibrillar myopathyDesmin-related myopathy with Mallory body-like inclusionsDesmoid tumorDesmoid tumor caused by somatic mutationDesmosterolosisDevelopmental and epileptic encephalopathy 100Developmental and epileptic encephalopathy 101Developmental and epileptic encephalopathy 102Developmental and epileptic encephalopathy 103Developmental and epileptic encephalopathy 104Developmental and epileptic encephalopathy 105 with hypopituitarismDevelopmental and epileptic encephalopathy 106Developmental and epileptic encephalopathy 108Developmental and epileptic encephalopathy 109Developmental and epileptic encephalopathy 110Developmental and epileptic encephalopathy 111Developmental and epileptic encephalopathy 112Developmental and epileptic encephalopathy 113Developmental and epileptic encephalopathy 114Developmental and epileptic encephalopathy 115Developmental and epileptic encephalopathy 116Developmental and epileptic encephalopathy 6BDevelopmental and epileptic encephalopathy 89Developmental and epileptic encephalopathy 91Developmental and epileptic encephalopathy 92Developmental and epileptic encephalopathy 93Developmental and epileptic encephalopathy 94Developmental and epileptic encephalopathy 96Developmental and epileptic encephalopathy 97Developmental and epileptic encephalopathy 98Developmental and epileptic encephalopathy 99Developmental and epileptic encephalopathy-107Developmental and epileptic encephalopathy, 1Developmental and epileptic encephalopathy, 11Developmental and epileptic encephalopathy, 12Developmental and epileptic encephalopathy, 13Developmental and epileptic encephalopathy, 14Developmental and epileptic encephalopathy, 15Developmental and epileptic encephalopathy, 16Developmental and epileptic encephalopathy, 17Developmental and epileptic encephalopathy, 18Developmental and epileptic encephalopathy, 19Developmental and epileptic encephalopathy, 2Developmental and epileptic encephalopathy, 21Developmental and epileptic encephalopathy, 23Developmental and epileptic encephalopathy, 24Developmental and epileptic encephalopathy, 25Developmental and epileptic encephalopathy, 26Developmental and epileptic encephalopathy, 27Developmental and epileptic encephalopathy, 28Developmental and epileptic encephalopathy, 29Developmental and epileptic encephalopathy, 3Developmental and epileptic encephalopathy, 30Developmental and epileptic encephalopathy, 31ADevelopmental and epileptic encephalopathy, 31BDevelopmental and epileptic encephalopathy, 32Developmental and epileptic encephalopathy, 33Developmental and epileptic encephalopathy, 34Developmental and epileptic encephalopathy, 35Developmental and epileptic encephalopathy, 36Developmental and epileptic encephalopathy, 37Developmental and epileptic encephalopathy, 38Developmental and epileptic encephalopathy, 39Developmental and epileptic encephalopathy, 4Developmental and epileptic encephalopathy, 40Developmental and epileptic encephalopathy, 41Developmental and epileptic encephalopathy, 42Developmental and epileptic encephalopathy, 43Developmental and epileptic encephalopathy, 44Developmental and epileptic encephalopathy, 45Developmental and epileptic encephalopathy, 46Developmental and epileptic encephalopathy, 47Developmental and epileptic encephalopathy, 48Developmental and epileptic encephalopathy, 49Developmental and epileptic encephalopathy, 5Developmental and epileptic encephalopathy, 50Developmental and epileptic encephalopathy, 51Developmental and epileptic encephalopathy, 52Developmental and epileptic encephalopathy, 53Developmental and epileptic encephalopathy, 54Developmental and epileptic encephalopathy, 55Developmental and epileptic encephalopathy, 56Developmental and epileptic encephalopathy, 57Developmental and epileptic encephalopathy, 58Developmental and epileptic encephalopathy, 59Developmental and epileptic encephalopathy, 60Developmental and epileptic encephalopathy, 61Developmental and epileptic encephalopathy, 62Developmental and epileptic encephalopathy, 63Developmental and epileptic encephalopathy, 64Developmental and epileptic encephalopathy, 65Developmental and epileptic encephalopathy, 66Developmental and epileptic encephalopathy, 67Developmental and epileptic encephalopathy, 68Developmental and epileptic encephalopathy, 69Developmental and epileptic encephalopathy, 6ADevelopmental and epileptic encephalopathy, 7Developmental and epileptic encephalopathy, 70Developmental and epileptic encephalopathy, 71Developmental and epileptic encephalopathy, 72Developmental and epileptic encephalopathy, 73Developmental and epileptic encephalopathy, 74Developmental and epileptic encephalopathy, 75Developmental and epileptic encephalopathy, 76Developmental and epileptic encephalopathy, 77Developmental and epileptic encephalopathy, 78Developmental and epileptic encephalopathy, 79Developmental and epileptic encephalopathy, 8Developmental and epileptic encephalopathy, 80Developmental and epileptic encephalopathy, 81Developmental and epileptic encephalopathy, 82Developmental and epileptic encephalopathy, 83Developmental and epileptic encephalopathy, 84Developmental and epileptic encephalopathy, 85, with or without midline brain defectsDevelopmental and epileptic encephalopathy, 86Developmental and epileptic encephalopathy, 87Developmental and epileptic encephalopathy, 88Developmental and epileptic encephalopathy, 9Developmental and epileptic encephalopathy, 90Developmental and speech delay due to SOX5 deficiencyDevelopmental delay and seizures with or without movement abnormalitiesDevelopmental delay with autism spectrum disorder and gait instabilityDevelopmental delay with short stature, dysmorphic facial features, and sparse hair 1Developmental delay with variable intellectual impairment and behavioral abnormalitiesDevelopmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndromeDevelopmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutationDevelopmental delay, language impairment, and ocular abnormalitiesDevelopmental malformations-deafness-dystonia syndromeDHDDS-CDGDiabetes insipidus, nephrogenic, autosomalDiabetes insipidus, nephrogenic, X-linkedDiabetes mellitus, noninsulin-dependent, 1Diabetes mellitus, noninsulin-dependent, 5Diabetes mellitus, permanent neonatal 2Diabetes mellitus, permanent neonatal 3Diabetes mellitus, permanent neonatal 4Diabetes mellitus, transient neonatal, 1Diabetes mellitus, transient neonatal, 2Diabetes mellitus, transient neonatal, 3Diamond-Blackfan anemiaDiamond-Blackfan anemia 1Diamond-Blackfan anemia 10Diamond-Blackfan anemia 11Diamond-Blackfan anemia 12Diamond-Blackfan anemia 13Diamond-Blackfan anemia 14 with mandibulofacial dysostosisDiamond-Blackfan anemia 15 with mandibulofacial dysostosisDiamond-Blackfan anemia 16Diamond-Blackfan anemia 17Diamond-Blackfan anemia 18Diamond-Blackfan anemia 19Diamond-Blackfan anemia 20Diamond-Blackfan anemia 21Diamond-Blackfan anemia 3Diamond-Blackfan anemia 4Diamond-Blackfan anemia 5Diamond-Blackfan anemia 6Diamond-Blackfan anemia 7Diamond-Blackfan anemia 8Diamond-Blackfan anemia 9DIAPH1-related sensorineural hearing loss-thrombocytopenia syndromeDiaphanospondylodysostosisDiaphragmatic hernia 3Diaphragmatic hernia 4, with cardiovascular defectsDiaphragmatic hernia-short bowel-asplenia syndromeDiaphyseal medullary stenosis-bone malignancy syndromeDiastrophic dysplasiaDiazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiencyDiazoxide-resistant focal hyperinsulinism due to SUR1 deficiencyDicarboxylic aminoaciduriaDICER1-related tumor predispositionDiencephalic-mesencephalic junction dysplasiaDiencephalic-mesencephalic junction dysplasia syndrome 1Diencephalic-mesencephalic junction dysplasia syndrome 2Differentiated thyroid carcinomaDiffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndromeDiffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palateDiffuse nonepidermolytic palmoplantar keratodermaDiffuse palmoplantar keratoderma with painful fissuresDigenic Alport syndromeDigenic hemochromatosisDigitotalar dysmorphismDihydropteridine reductase deficiencyDihydropyrimidinase deficiencyDihydropyrimidine dehydrogenase deficiencyDilated cardiomyopathy 1ADilated cardiomyopathy 1AADilated cardiomyopathy 1BBDilated cardiomyopathy 1CDilated cardiomyopathy 1CCDilated cardiomyopathy 1DDilated cardiomyopathy 1DDDilated cardiomyopathy 1EDilated cardiomyopathy 1EEDilated cardiomyopathy 1FFDilated cardiomyopathy 1GDilated cardiomyopathy 1GGDilated cardiomyopathy 1HHDilated cardiomyopathy 1IDilated cardiomyopathy 1IIDilated cardiomyopathy 1JDilated cardiomyopathy 1JJDilated cardiomyopathy 1KKDilated cardiomyopathy 1LDilated cardiomyopathy 1MDilated cardiomyopathy 1NNDilated cardiomyopathy 1ODilated cardiomyopathy 1PDilated cardiomyopathy 1RDilated cardiomyopathy 1SDilated cardiomyopathy 1UDilated cardiomyopathy 1VDilated cardiomyopathy 1WDilated cardiomyopathy 1XDilated cardiomyopathy 1YDilated cardiomyopathy 1ZDilated cardiomyopathy 2ADilated cardiomyopathy 2BDilated cardiomyopathy 3BDilated cardiomyopathy-hypergonadotropic hypogonadism syndromeDimethylglycine dehydrogenase deficiencyDislocation of the hip-dysmorphism syndromeDisseminated superficial actinic porokeratosisDistal arthrogryposis type 2B1Distal arthrogryposis type 5DDistal hereditary motor neuropathy type 2Distal hereditary motor neuropathy type 7Distal myopathy with anterior tibial onsetDistal myopathy with posterior leg and anterior hand involvementDistal myopathy with vocal cord weaknessDistal myopathy, Tateyama typeDistichiasis-lymphedema syndromeDK1-congenital disorder of glycosylationDKC1-related disorderDMD-related muscular dystrophyDNA ligase IV deficiencyDNAJC21-related Shwachman Diamond syndromeDNM1-encephalopathy and neurodevelopmental disorderDOCK2 deficiencyDominant beta-thalassemiaDonnai-Barrow syndromeDOORS syndromeDopa-responsive dystonia due to sepiapterin reductase deficiencyDowling-Degos diseaseDowling-Degos disease 1Dowling-Degos disease 2Dowling-Degos disease 4Doyne honeycomb retinal dystrophyDPAGT1-congenital disorder of glycosylationDPM3-congenital disorder of glycosylationDrash syndromeDuane retraction syndromeDuane retraction syndrome 2Duane retraction syndrome 3 with or without deafnessDuane retraction syndrome with congenital deafnessDuane-radial ray syndromeDubin-Johnson syndromeDubowitz syndromeDuchenne muscular dystrophyDyggve-Melchior-Clausen syndromeDyneinopathyDYRK1A-related intellectual disability syndromeDyschromatosis universalis hereditariaDyschromatosis universalis hereditaria 1Dyschromatosis universalis hereditaria 3Dysequilibrium syndromeDyskeratosis congenitaDyskeratosis congenita, autosomal dominant 1Dyskeratosis congenita, autosomal dominant 2Dyskeratosis congenita, autosomal dominant 3Dyskeratosis congenita, autosomal dominant 6Dyskeratosis congenita, autosomal recessive 1Dyskeratosis congenita, autosomal recessive 2Dyskeratosis congenita, autosomal recessive 3Dyskeratosis congenita, autosomal recessive 5Dyskeratosis congenita, autosomal recessive 6Dyskeratosis congenita, autosomal recessive 8Dyskeratosis congenita, digenicDyskeratosis congenita, X-linkedDyskinesia with orofacial involvement, autosomal dominantDysosteosclerosisDysostosis multiplex, Ain-Naz typeDysplasminogenemiaDysspondyloenchondromatosisDystonia 12Dystonia 16Dystonia 22, adult-onsetDystonia 22, juvenile-onsetDystonia 24Dystonia 25Dystonia 27Dystonia 28, childhood-onsetDystonia 30Dystonia 31Dystonia 32Dystonia 33Dystonia 34, myoclonicDystonia 35, childhood-onsetDystonia 37, early-onset, with striatal lesionsDystonia 5Dystonia 9Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalitiesDystrophic epidermolysis bullosa, nails onlyEarly-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathyEarly-onset anterior polar cataractEarly-onset autoimmune disorder due to DOCK11 partial deficiencyEarly-onset autoimmunity-autoinflammation-immunodeficiency syndromeEarly-onset autosomal dominant Alzheimer diseaseEarly-onset calcifying leukoencephalopathy-skeletal dysplasiaEarly-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutationEarly-onset familial hypoaldosteronismEarly-onset generalized limb-onset dystoniaEarly-onset immune dysregulation due to DOCK11 complete deficiencyEarly-onset Lafora body diseaseEarly-onset lamellar cataractEarly-onset myopathy with fatal cardiomyopathyEarly-onset nuclear cataractEarly-onset obesity-hyperphagia-severe developmental delay syndromeEarly-onset Parkinson disease 20Early-onset parkinsonism-intellectual disability syndromeEarly-onset posterior subcapsular cataractEarly-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeEarly-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndromeEarly-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndromeEarly-onset progressive neurodegeneration-blindness-ataxia-spasticity syndromeEarly-onset sutural cataractEAST syndromeEast Texas bleeding disorderEbstein anomalyEctodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominantEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessiveEctodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominantEctodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessiveEctodermal dysplasia 12, hypohidrotic/hair/tooth/nail typeEctodermal dysplasia 13, hair/tooth typeEctodermal dysplasia 14, hair/tooth type with or without hypohidrosisEctodermal dysplasia 15, hypohidrotic/hair typeEctodermal dysplasia 4, hair/nail typeEctodermal dysplasia 7, hair/nail typeEctodermal dysplasia 9, hair/nail typeEctodermal dysplasia and immune deficiencyEctodermal dysplasia and immunodeficiency 1Ectodermal dysplasia and immunodeficiency 2Ectodermal dysplasia WNT10A relatedEctodermal dysplasia-syndactyly syndromeEctodermal dysplasia-syndactyly syndrome 1Ectopia lentis 1, isolated, autosomal dominantEctopia lentis 2, isolated, autosomal recessiveEctopia lentis et pupillaeEctopic thyroidEctrodactylyEctrodactyly-ectodermal dysplasia-clefting syndromeEctrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3EDICT syndromeEEM syndromeEGF-related primary hypomagnesemia with intellectual disabilityEhlers-Danlos syndrome due to tenascin-X deficiencyEhlers-Danlos syndrome progeroid typeEhlers-Danlos syndrome, arthrochalasia typeEhlers-Danlos syndrome, arthrochalasia type, 2Ehlers-Danlos syndrome, cardiac valvular typeEhlers-Danlos syndrome, classic typeEhlers-Danlos syndrome, classic type, 1Ehlers-Danlos syndrome, classic type, 2Ehlers-Danlos syndrome, classic-like, 2Ehlers-Danlos syndrome, classic-like, 3Ehlers-Danlos syndrome, dermatosparaxis typeEhlers-Danlos syndrome, dominant type 4Ehlers-Danlos syndrome, kyphoscoliotic type 1Ehlers-Danlos syndrome, kyphoscoliotic type, 2Ehlers-Danlos syndrome, musculocontractural typeEhlers-Danlos syndrome, musculocontractural type 1Ehlers-Danlos syndrome, musculocontractural type 2Ehlers-Danlos syndrome, periodontal type 1Ehlers-Danlos syndrome, periodontal type 2Ehlers-Danlos syndrome, periodontitis typeEhlers-Danlos syndrome, spondylocheirodysplastic typeEhlers-Danlos syndrome, spondylodysplastic type, 1Ehlers-Danlos syndrome, spondylodysplastic type, 2Ehlers-Danlos syndrome, type 4Ehlers-Danlos/osteogenesis imperfecta syndromeEichsfeld type congenital muscular dystrophyEiken syndromeELANE-related neutropeniaElliptocytosis 1Elliptocytosis 2Elliptocytosis 3Ellis-van Creveld syndromeELOVL4-related maculopathyElsahy-Waters syndromeEmbryonal rhabdomyosarcomaEmery-Dreifuss muscular dystrophy 1, X-linkedEmery-Dreifuss muscular dystrophy 2, autosomal dominantEmery-Dreifuss muscular dystrophy 3, autosomal recessiveEmery-Dreifuss muscular dystrophy 4, autosomal dominantEmery-Dreifuss muscular dystrophy 5, autosomal dominantEmery-Dreifuss muscular dystrophy 7, autosomal dominantEMILIN-1-related connective tissue diseaseEncephalocraniocutaneous lipomatosisEncephalopathy due to defective mitochondrial and peroxisomal fission 2Encephalopathy due to GLUT1 deficiencyEncephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndromeEncephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1EnchondromatosisEndocrine-cerebro-osteodysplasia syndromeENDOVE syndrome, limb-brain typeEnhanced S-cone syndromeEnterokinase deficiencyEosinophil peroxidase deficiencyEPHB4-related lymphatic-related hydrops fetalisEpidermal nevusEpidermodysplasia verruciformisEpidermolysis bullosa pruriginosaEpidermolysis bullosa simplex 1A, generalized severeEpidermolysis bullosa simplex 1C, localizedEpidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessiveEpidermolysis bullosa simplex 2A, generalized severeEpidermolysis bullosa simplex 2B, generalized intermediateEpidermolysis bullosa simplex 2C, localizedEpidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessiveEpidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiencyEpidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessiveEpidermolysis bullosa simplex 5B, with muscular dystrophyEpidermolysis bullosa simplex 5C, with pyloric atresiaEpidermolysis bullosa simplex 6, generalized, with scarring and hair lossEpidermolysis bullosa simplex 7, with nephropathy and deafnessEpidermolysis bullosa simplex due to plakophilin deficiencyEpidermolysis bullosa simplex with migratory circinate erythemaEpidermolysis bullosa simplex with mottled pigmentationEpidermolysis bullosa simplex with nail dystrophyEpidermolysis bullosa simplex, Koebner typeEpidermolysis bullosa simplex, Ogna typeEpidermolysis bullosa, junctional 2A, intermediateEpidermolysis bullosa, junctional 2B, severeEpidermolysis bullosa, junctional 3A, intermediateEpidermolysis bullosa, junctional 3B, severeEpidermolysis bullosa, junctional 4, intermediateEpidermolysis bullosa, junctional 5A, intermediateEpidermolysis bullosa, junctional 6, with pyloric atresiaEpidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndromeEpidermolytic hyperkeratosis 1Epidermolytic hyperkeratosis 2Epidermolytic hyperkeratosis 2A, autosomal dominantEpidermolytic hyperkeratosis 2B, autosomal recessiveEpidermolytic palmoplantar keratoderma, 1Epilepsy with myoclonic absencesEpilepsy with myoclonic atonic seizuresEpilepsy, early-onset, vitamin B6-dependentEpilepsy, familial adult myoclonic, 1Epilepsy, familial adult myoclonic, 2Epilepsy, familial adult myoclonic, 3Epilepsy, familial adult myoclonic, 4Epilepsy, familial adult myoclonic, 5Epilepsy, familial adult myoclonic, 6Epilepsy, familial adult myoclonic, 7Epilepsy, familial focal, with variable foci 1Epilepsy, familial focal, with variable foci 2Epilepsy, familial focal, with variable foci 3Epilepsy, familial focal, with variable foci 4Epilepsy, familial temporal lobe, 1Epilepsy, progressive myoclonic, 11Epilepsy, progressive myoclonic, 12Epilepsy, progressive myoclonic, 1BEpilepsy, X-linked 1, with variable learning disabilities and behavior disordersEpilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic featuresEpiphyseal dysplasia, multiple, 2Epiphyseal dysplasia, multiple, 3Epiphyseal dysplasia, multiple, 6Epiphyseal dysplasia, multiple, 7Episodic ataxia type 1Episodic ataxia type 2Episodic ataxia type 5Episodic ataxia type 6Episodic ataxia, type 9Episodic kinesigenic dyskinesiaEpisodic kinesigenic dyskinesia 1Episodic kinesigenic dyskinesia 3Episodic pain syndrome, familial, 2Epithelial basement membrane dystrophyEpithelial recurrent erosion dystrophyEpithelial-stromal TGFBI dystrophyErythrocyte galactose epimerase deficiencyErythrocytosis, familial, 3Erythrocytosis, familial, 4Erythrocytosis, familial, 5Erythrocytosis, familial, 6Erythrocytosis, familial, 7Erythrokeratodermia variabilisErythrokeratodermia variabilis et progressiva 1Erythrokeratodermia variabilis et progressiva 2Erythrokeratodermia variabilis et progressiva 3Erythrokeratodermia variabilis et progressiva 4Erythrokeratodermia variabilis et progressiva 5Erythrokeratodermia variabilis et progressiva 6Erythrokeratodermia variabilis et progressiva 7Essential fructosuriaEssential pentosuriaEssential thrombocythemiaEstrogen resistance syndromeEthylmalonic encephalopathyEuthyroid dysprealbuminemic hyperthyroxinemiaEuthyroid goiterEven-plus syndromeEwing sarcomaExercise-induced hyperinsulinismExfoliative ichthyosisExostoses, multiple, type 1Exostoses, multiple, type 2Extramammary Paget diseaseExtraskeletal myxoid chondrosarcomaExudative vitreoretinopathy 1Exudative vitreoretinopathy 2, X-linkedExudative vitreoretinopathy 4Exudative vitreoretinopathy 5Exudative vitreoretinopathy 6Exudative vitreoretinopathy 7Eyelid colobomaEYS-related retinopathyF12-associated cold autoinflammatory syndromeFabry diseaseFacial dysmorphism-immunodeficiency-livedo-short stature syndromeFacial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndromeFacial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndromeFacial paresis, hereditary congenital, 3Faciodigitogenital syndromeFacioscapulohumeral muscular dystrophyFacioscapulohumeral muscular dystrophy 1Facioscapulohumeral muscular dystrophy 2Facioscapulohumeral muscular dystrophy 3, digenicFacioscapulohumeral muscular dystrophy 4, digenicFactor 5 and Factor VIII, combined deficiency of, 2Factor H deficiencyFactor I deficiencyFactor V amsterdam bleeding disorderFactor V and factor VIII, combined deficiency of, type 1Factor V atlanta bleeding disorderFactor XII deficiency diseaseFactor XIII, A subunit, deficiency ofFactor XIII, b subunit, deficiency ofFADD-related immunodeficiencyFAM20B-congenital disorder of glycosylationFamilial acute necrotizing encephalopathyFamilial adenomatous polyposis 1Familial adenomatous polyposis 2Familial adenomatous polyposis 3Familial adenomatous polyposis 4Familial Alzheimer-like prion diseaseFamilial amyloid nephropathy with urticaria AND deafnessFamilial amyloid polyneuropathy, Iowa typeFamilial apolipoprotein C-II deficiencyFamilial atrial fibrillationFamilial atrial myxomaFamilial atypical multiple mole melanoma syndromeFamilial avascular necrosis of the femoral headFamilial benign flecked retinaFamilial benign pemphigusFamilial bicuspid aortic valveFamilial cancer of breastFamilial caudal dysgenesisFamilial cavitary optic disk anomalyFamilial chilblain lupusFamilial chronic mucocutaneous candidiasisFamilial clubfoot due to PITX1 point mutationFamilial cold autoinflammatory syndromeFamilial cold autoinflammatory syndrome 1Familial cold autoinflammatory syndrome 2Familial cold autoinflammatory syndrome 3Familial cold autoinflammatory syndrome 4Familial colorectal cancer type XFamilial congenital nasolacrimal duct obstructionFamilial cutaneous telangiectasia and oropharyngeal predisposition cancer syndromeFamilial cylindromatosisFamilial digital arthropathy-brachydactylyFamilial dysautonomiaFamilial dysfibrinogenemiaFamilial encephalopathy with neuroserpin inclusion bodiesFamilial episodic pain syndrome with predominantly lower limb involvementFamilial episodic pain syndrome with predominantly upper body involvementFamilial expansile osteolysisFamilial exudative vitreoretinopathyFamilial focal epilepsy with variable fociFamilial gastric type 1 neuroendocrine tumorFamilial generalized lentiginosisFamilial gestational hyperthyroidismFamilial glucocorticoid deficiencyFamilial hemophagocytic lymphohistiocytosisFamilial hemophagocytic lymphohistiocytosis 2Familial hemophagocytic lymphohistiocytosis 3Familial hemophagocytic lymphohistiocytosis 4Familial hemophagocytic lymphohistiocytosis 5Familial hyperaldosteronism type IIFamilial hyperaldosteronism type IIIFamilial hyperinflammatory lymphoproliferative immunodeficiencyFamilial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndromeFamilial hyperprolactinemiaFamilial hyperthyroidism due to mutations in TSH receptorFamilial hypertryptophanemiaFamilial hypobetalipoproteinemia 1Familial hypobetalipoproteinemia 2Familial hypocalciuric hypercalcemia 1Familial hypocalciuric hypercalcemia 2Familial hypocalciuric hypercalcemia 3Familial hypodysfibrinogenemiaFamilial hypofibrinogenemiaFamilial hypokalemia-hypomagnesemiaFamilial idiopathic hypercalciuriaFamilial idiopathic steroid-resistant nephrotic syndromeFamilial infantile bilateral striatal necrosisFamilial infantile myastheniaFamilial infantile myoclonic epilepsyFamilial isolated arrhythmogenic ventricular dysplasia, biventricular formFamilial isolated arrhythmogenic ventricular dysplasia, left dominant formFamilial isolated arrhythmogenic ventricular dysplasia, right dominant formFamilial isolated congenital aspleniaFamilial isolated deficiency of vitamin EFamilial isolated dilated cardiomyopathyFamilial isolated hyperparathyroidismFamilial isolated hypoparathyroidism due to impaired PTH secretionFamilial isolated pituitary adenomaFamilial isolated trichomegalyFamilial juvenile hyperuricemic nephropathy type 1Familial juvenile hyperuricemic nephropathy type 2Familial Mediterranean feverFamilial Mediterranean fever, autosomal dominantFamilial medullary thyroid carcinomaFamilial meningiomaFamilial mitral valve prolapseFamilial multiple meningiomaFamilial multiple nevi flammeiFamilial multiple trichoepitheliomataFamilial or sporadic hemiplegic migraineFamilial pancreatic carcinomaFamilial papillary or follicular thyroid carcinomaFamilial partial lipodystrophy, Dunnigan typeFamilial partial lipodystrophy, Kobberling typeFamilial pityriasis rubra pilarisFamilial porencephalyFamilial porphyria cutanea tardaFamilial primary localized cutaneous amyloidosisFamilial progressive hyper- and hypopigmentationFamilial progressive hyperpigmentationFamilial progressive retinal dystrophy-iris coloboma-congenital cataract syndromeFamilial prostate cancerFamilial pseudohyperkalemiaFamilial pulmonary capillary hemangiomatosisFamilial renal glucosuriaFamilial renal hypouricemiaFamilial retinal arterial macroaneurysmFamilial scaphocephaly syndrome, McGillivray typeFamilial schizencephalyFamilial sick sinus syndromeFamilial spontaneous pneumothoraxFamilial steroid-resistant nephrotic syndrome with sensorineural deafnessFamilial temporal lobe epilepsy 5Familial temporal lobe epilepsy 7Familial temporal lobe epilepsy 8Familial thoracic aortic aneurysm and aortic dissectionFamilial thrombocytosisFamilial thyroid dyshormonogenesisFamilial type 3 hyperlipoproteinemiaFamilial type 5 hyperlipoproteinemiaFamilial ventricular tachycardiaFamilial vesicoureteral refluxFamilial visceral amyloidosis, Ostertag typeFamilial X-linked hypophosphatemic vitamin D refractory ricketsFanconi anemiaFanconi anemia complementation group AFanconi anemia complementation group BFanconi anemia complementation group CFanconi anemia complementation group D1Fanconi anemia complementation group D2Fanconi anemia complementation group EFanconi anemia complementation group FFanconi anemia complementation group GFanconi anemia complementation group IFanconi anemia complementation group JFanconi anemia complementation group LFanconi anemia complementation group NFanconi anemia complementation group OFanconi anemia complementation group PFanconi anemia complementation group QFanconi anemia complementation group RFanconi anemia complementation group TFanconi anemia complementation group UFanconi anemia complementation group VFanconi anemia, complementation group SFanconi anemia, complementation group WFanconi renotubular syndrome 1Fanconi renotubular syndrome 2Fanconi renotubular syndrome 3Fanconi renotubular syndrome 4 with maturity-onset diabetes of the youngFanconi renotubular syndrome 5Fanconi-Bickel syndromeFarber lipogranulomatosisFASTKD2-related infantile mitochondrial encephalomyopathyFatal familial insomniaFatal infantile encephalocardiomyopathyFatal infantile hypertonic myofibrillar myopathyFatal mitochondrial disease due to combined oxidative phosphorylation defect type 3Fatal post-viral neurodegenerative disorderFatty acid hydroxylase-associated neurodegenerationFatty acyl-CoA reductase 1 deficiencyFatty acyl-CoA reductase defectsFBLN1-related developmental delay-central nervous system anomaly-syndactyly syndromeFebrile seizures, familial, 11Febrile seizures, familial, 8Feingold syndrome type 1Feingold syndrome type 2Female infertility due to oocyte meiotic arrestFemale infertility due to zona pellucida defectFerro-cerebro-cutaneous syndromeFetal akinesia deformation sequence 1Fetal akinesia deformation sequence 2Fetal akinesia deformation sequence 3Fetal akinesia deformation sequence 4Fetal akinesia-cerebral and retinal hemorrhage syndromeFG syndrome 1FGFR1-related Pfeiffer syndromeFGFR2-related Pfeiffer syndromeFHL1-related myopathyFibrochondrogenesisFibrochondrogenesis 1Fibrochondrogenesis 2Fibromatosis, gingival, 1Fibromatosis, gingival, 5Fibromatosis, gingival, 6Fibronectin glomerulopathyFibrosis of extraocular muscles, congenital, 2Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvementFibrosis of extraocular muscles, congenital, 5Fibrosis, neurodegeneration, and cerebral angiomatosisFibrous dysplasia of jawFilippi syndromeFine-Lubinsky syndromeFinnish congenital nephrotic syndromeFinnish type amyloidosisFinnish upper limb-onset distal myopathyFischer-Zirnsak progeroid syndromeFish-eye diseaseFleck corneal dystrophyFLNB-associated autosomal dominant filamin related bone disorderFloating-Harbor syndromeFLVCR1-related retinopathy with or without ataxiaFocal dermal hypoplasiaFocal epilepsy-intellectual disability-cerebro-cerebellar malformationFocal facial dermal dysplasia type IIIFocal facial dermal dysplasia type IVFocal palmoplantar keratoderma with joint keratosesFocal segmental glomerulosclerosis 1Focal segmental glomerulosclerosis 2Focal segmental glomerulosclerosis 5Focal segmental glomerulosclerosis 6Focal segmental glomerulosclerosis 7Focal segmental glomerulosclerosis 8Focal segmental glomerulosclerosis 9Fontaine progeroid syndromeFoveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndromeFoveal hypoplasia 1Foveal hypoplasia-presenile cataract syndromeFowler syndromeFOXC1-related anterior segment dysgenesisFOXG1 disorderFragile X syndromeFragile X-associated tremor/ataxia syndromeFrank-Ter Haar syndromeFraser syndrome 1Fraser syndrome 2Fraser syndrome 3Frasier syndromeFRAXEFRAXF syndromeFreeman-Sheldon syndromeFried syndromeFriedreich ataxia 1Friedreich ataxia 2Frontometaphyseal dysplasiaFrontometaphyseal dysplasia 1Frontometaphyseal dysplasia 2Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndromeFrontonasal dysplasia with alopecia and genital anomalyFrontorhinyFrontotemporal dementiaFrontotemporal dementia and/or amyotrophic lateral sclerosis 1Frontotemporal dementia and/or amyotrophic lateral sclerosis 2Frontotemporal dementia and/or amyotrophic lateral sclerosis 3Frontotemporal dementia and/or amyotrophic lateral sclerosis 4Frontotemporal dementia and/or amyotrophic lateral sclerosis 5Frontotemporal dementia and/or amyotrophic lateral sclerosis 6Frontotemporal dementia and/or amyotrophic lateral sclerosis 7Frontotemporal dementia and/or amyotrophic lateral sclerosis 8Frontotemporal dementia with motor neuron diseaseFructose-biphosphatase deficiencyFryns syndromeFuchs' endothelial dystrophyFucosidosisFuhrmann syndromeFumarase deficiencyFZD4-related exudative vitreoretinopathyGabriele de Vries syndromeGalactosemia 4Galactosylceramide beta-galactosidase deficiencyGalloway-Mowat syndromeGalloway-Mowat syndrome 1Galloway-Mowat syndrome 10Galloway-Mowat syndrome 2, X-linkedGalloway-Mowat syndrome 3Galloway-Mowat syndrome 4Galloway-Mowat syndrome 5Galloway-Mowat syndrome 6Galloway-Mowat syndrome 7Galloway-Mowat syndrome 8Galloway-Mowat syndrome 9Gamma-aminobutyric acid transaminase deficiencyGamma-glutamylcysteine synthetase deficiencyGamma-Glutamyltransferase deficiencyGAPO syndromeGarg-Mishra progeroid syndromeGastric adenocarcinoma and proximal polyposis of the stomachGastric cancerGastrointestinal defects and immunodeficiency syndrome 1Gastrointestinal defects and immunodeficiency syndrome 2Gastrointestinal stromal tumorGATA binding protein 1 related thrombocytopenia with dyserythropoiesisGaucher disease due to saposin C deficiencyGaucher disease perinatal lethalGaucher disease type IGaucher disease type IIGaucher disease type IIIGaucher disease-ophthalmoplegia-cardiovascular calcification syndromeGaze palsy, familial horizontal, with progressive scoliosis 1Gaze palsy, familial horizontal, with progressive scoliosis, 2GCGR-related hyperglucagonemiaGelatinous droplike corneal dystrophyGeleophysic dysplasiaGeleophysic dysplasia 1Geleophysic dysplasia 2Geleophysic dysplasia 3Generalized dominant dystrophic epidermolysis bullosaGeneralized epilepsy with febrile seizures plusGeneralized epilepsy with febrile seizures plus, type 1Generalized epilepsy with febrile seizures plus, type 10Generalized epilepsy with febrile seizures plus, type 12Generalized epilepsy with febrile seizures plus, type 2Generalized epilepsy with febrile seizures plus, type 9Generalized epilepsy-paroxysmal dyskinesia syndromeGeneralized galactose epimerase deficiencyGeneralized junctional epidermolysis bullosa non-Herlitz typeGeneralized juvenile polyposis/juvenile polyposis coliGeneralized pustular psoriasisGenetic central precocious puberty in femaleGenetic central precocious puberty in maleGenitopatellar syndromeGerm cell tumor of testisGeroderma osteodysplasticaGerstmann-Straussler-Scheinker syndromeGhosal hematodiaphyseal dysplasiaGiant axonal neuropathy 1Giant axonal neuropathy 2Giant cell glioblastomaGigantismGillespie syndromeGillessen-Kaesbach-Nishimura syndromeGingival fibromatosis-hypertrichosis syndromeGitelman-like kidney tubulopathy due to mitochondrial DNA mutationGJC2-related late-onset primary lymphedemaGlanzmann thrombastheniaGlanzmann thrombasthenia 1Glanzmann thrombasthenia 2Glaucoma 1, open angle, AGlaucoma 1, open angle, OGlaucoma 3, primary congenital, DGlaucoma 3, primary congenital, EGlaucoma 3, primary infantile, BGlaucoma 3AGlaucoma of childhoodGlaucoma secondary to spherophakia/ectopia lentis and megalocorneaGliomaGliosarcomaGlobal developmental delay - lung cysts - overgrowth - Wilms tumor syndromeGlobal developmental delay with or without impaired intellectual developmentGlobal developmental delay with speech and behavioral abnormalitiesGlobal developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndromeGlobozoospermiaGlomerulopathy with fibronectin deposits 2Glomuvenous malformationGlucocorticoid deficiency 1Glucocorticoid deficiency 2Glucocorticoid deficiency 4Glucocorticoid deficiency 5Glucocorticoid deficiency with achalasiaGlucocorticoid resistanceGlucocorticoid-remediable aldosteronismGlucose-6-phosphate transport defectGlutamate formiminotransferase deficiencyGlutamate pyruvate transaminase 2 deficiencyGlutaminase deficiencyGlutaric acidemia IIaGlutaric acidemia IIbGlutaric acidemia IIcGlutaric aciduria, type 1Glutaryl-CoA oxidase deficiencyGlutathione synthetase deficiency with 5-oxoprolinuriaGlutathione synthetase deficiency without 5-oxoprolinuriaGluthathione peroxidase deficiencyGlycerol kinase deficiency, adult formGlycerol kinase deficiency, juvenile formGlyceronephosphate O-acyltransferase deficiencyGlycine encephalopathy 1Glycine encephalopathy 2Glycine N-methyltransferase deficiencyGlycogen storage disease due to acid maltase deficiency, infantile onsetGlycogen storage disease due to acid maltase deficiency, late-onsetGlycogen storage disease due to glucose-6-phosphatase deficiency type IAGlycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular formGlycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic formGlycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular formGlycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular formGlycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular formGlycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic formGlycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic formGlycogen storage disease due to lactate dehydrogenase H-subunit deficiencyGlycogen storage disease due to lactate dehydrogenase M-subunit deficiencyGlycogen storage disease due to liver phosphorylase kinase deficiencyGlycogen storage disease due to muscle and heart glycogen synthase deficiencyGlycogen storage disease due to muscle beta-enolase deficiencyGlycogen storage disease due to phosphoglycerate kinase 1 deficiencyGlycogen storage disease IXa1Glycogen storage disease IXbGlycogen storage disease IXcGlycogen storage disease IXdGlycogen storage disease type 1 due to SLC37A4 mutationGlycogen storage disease type IIIGlycogen storage disease type XGlycogen storage disease XVGlycogen storage disease, type IIGlycogen storage disease, type IVGlycogen storage disease, type VGlycogen storage disease, type VIGlycogen storage disease, type VIIGlycogen storage disorder due to hepatic glycogen synthase deficiencyGlycosylphosphatidylinositol biosynthesis defect 15Glycosylphosphatidylinositol biosynthesis defect 16Glycosylphosphatidylinositol biosynthesis defect 17Glycosylphosphatidylinositol biosynthesis defect 18GM1 gangliosidosisGM1 gangliosidosis type 2GM1 gangliosidosis type 3GM3 synthase deficiencyGNAO1-related developmental delay-seizures-movement disorder spectrumGNAT2-related retinopathyGnathodiaphyseal dysplasiaGnb5-related intellectual disability-cardiac arrhythmia syndromeGNE myopathyGNPTAB-mucolipidosisGNPTG-mucolipidosisGoldberg-Shprintzen syndromeGoldmann-Favre syndromeGonadotropin-independent familial sexual precocityGordon syndromeGorlin syndromeGPR179-related retinopathyGRACILE syndromeGraft versus host diseaseGrange syndromeGranulomatous disease, chronic, autosomal recessive, 5Granulomatous disease, chronic, autosomal recessive, cytochrome b-negativeGranulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3Granulomatous disease, chronic, X-linkedGray platelet syndromeGrebe syndromeGreenberg dysplasiaGreig cephalopolysyndactyly syndromeGRIN1-related complex neurodevelopmental disorderGRIN2A-related complex neurodevelopmental disorderGRIN2B-related complex neurodevelopmental disorderGriscelli syndrome type 1Griscelli syndrome type 2Griscelli syndrome type 3GRM6-related retinopathyGRN-related frontotemporal lobar degeneration with Tdp43 inclusionsGroenouw corneal dystrophy type IGrowth and developmental delay-hypotonia-vision impairment-lactic acidosis syndromeGrowth delay due to insulin-like growth factor I resistanceGrowth delay due to insulin-like growth factor type 1 deficiencyGrowth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominantGrowth hormone insensitivity with immune dysregulation 1, autosomal recessiveGrowth retardation-mild developmental delay-chronic hepatitis syndromeGrowth retardation, intellectual developmental disorder, hypotonia, and hepatopathyGTP cyclohydrolase I deficiencyGTP cyclohydrolase I deficiency with hyperphenylalaninemiaGUCY2D retinopathyGuillain-Barre syndrome, familialGuttmacher syndromeGYG1-related disorder of glycogen metabolismH syndromeHaddad syndromeHaim-Munk syndromeHairy cell leukemiaHajdu-Cheney syndromeHallermann-Streiff syndromeHamartoma of hypothalamusHamel cerebro-palato-cardiac syndromeHand-foot-genital syndromeHao-Fountain syndrome due to USP7 mutationHarderoporphyriaHarel-Yoon syndromeHartsfield-Bixler-Demyer syndromeHawkinsinuriaHb SS diseaseHBA1-related alpha thalassemia spectrumHBA2-related alpha thalassemia spectrumHearing loss, autosomal dominant 34, with or without inflammationHearing loss, autosomal dominant 37Hearing loss, autosomal dominant 71Hearing loss, autosomal dominant 72Hearing loss, autosomal dominant 73Hearing loss, autosomal dominant 74Hearing loss, autosomal dominant 75Hearing loss, autosomal dominant 76Hearing loss, autosomal dominant 77Hearing loss, autosomal dominant 78Hearing loss, autosomal dominant 79Hearing loss, autosomal dominant 80Hearing loss, autosomal dominant 81Hearing loss, autosomal dominant 82Hearing loss, autosomal dominant 83Hearing loss, autosomal dominant 84Hearing loss, autosomal dominant 85Hearing loss, autosomal dominant 86Hearing loss, autosomal dominant 87Hearing loss, autosomal dominant 88Hearing loss, autosomal dominant 89Hearing loss, autosomal dominant 90Hearing loss, autosomal recessiveHearing loss, autosomal recessive 100Hearing loss, autosomal recessive 106Hearing loss, autosomal recessive 107Hearing loss, autosomal recessive 108Hearing loss, autosomal recessive 109Hearing loss, autosomal recessive 110Hearing loss, autosomal recessive 111Hearing loss, autosomal recessive 112Hearing loss, autosomal recessive 113Hearing loss, autosomal recessive 114Hearing loss, autosomal recessive 115Hearing loss, autosomal recessive 116Hearing loss, autosomal recessive 117Hearing loss, autosomal recessive 119Hearing loss, autosomal recessive 120Hearing loss, autosomal recessive 121Hearing loss, autosomal recessive 122Hearing loss, autosomal recessive 123Hearing loss, autosomal recessive 125Hearing loss, autosomal recessive 57Hearing loss, autosomal recessive 94Hearing loss, autosomal recessive 99Hearing loss, X-linked 1Hearing loss, X-linked 4Hearing loss, X-linked 6Heart defect - tongue hamartoma - polysyndactyly syndromeHeart-hand syndrome, Slovenian typeHecht syndromeHeinz body anemiaHelicoid peripapillary chorioretinal degenerationHELIX syndromeHeme oxygenase 1 deficiencyHemifacial myohyperplasiaHemihyperplasia-multiple lipomatosis syndromeHemimegalencephalyHemochromatosis type 2AHemochromatosis type 2BHemochromatosis type 3Hemochromatosis type 4Hemochromatosis type 5Hemoglobin Bart hydrops syndromeHemoglobin C-beta-thalassemia syndromeHemoglobin D diseaseHemoglobin E diseaseHemoglobin E/beta thalassemia diseaseHemoglobin H diseaseHemoglobin M diseaseHemoglobinopathy Toms RiverHemolytic anemia due to adenylate kinase deficiencyHemolytic anemia due to erythrocyte adenosine deaminase overproductionHemolytic anemia due to glucophosphate isomerase deficiencyHemolytic anemia due to glutathione reductase deficiencyHemolytic anemia due to hexokinase deficiencyHemolytic anemia due to pyrimidine 5' nucleotidase deficiencyHemolytic disease of fetus and newborn, RH-inducedHemolytic uremic syndrome, atypical, 8, with rhizomelic short statureHemophagocytic lymphohistiocytosis, familial, 6Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutationHennekam lymphangiectasia-lymphedema syndromeHennekam lymphangiectasia-lymphedema syndrome 1Hennekam lymphangiectasia-lymphedema syndrome 2Hennekam lymphangiectasia-lymphedema syndrome 3Heparin cofactor II deficiencyHepatic adenomas, familialHepatic methionine adenosyltransferase deficiencyHepatic veno-occlusive disease-immunodeficiency syndromeHepatocellular carcinomaHepatoencephalopathy due to combined oxidative phosphorylation defect type 1Hepatoerythropoietic porphyriaHereditary acrodermatitis enteropathicaHereditary angioedema type 1Hereditary angioedema type 3Hereditary angioedema with C1Inh deficiencyHereditary angioedema with normal C1inh not related to F12 or PLG variantHereditary antithrombin deficiencyHereditary arterial and articular multiple calcification syndromeHereditary breast ovarian cancer syndromeHereditary C1 esterase inhibitor deficiency - dysfunctional factorHereditary cavernous hemangioma of brainHereditary cerebral amyloid angiopathy, Icelandic typeHereditary continuous muscle fiber activityHereditary coproporphyriaHereditary cryohydrocytosis with reduced stomatinHereditary diffuse gastric adenocarcinomaHereditary elliptocytosisHereditary factor IX deficiency diseaseHereditary factor VIII deficiency diseaseHereditary factor X deficiency diseaseHereditary factor XI deficiency diseaseHereditary factor XIII deficiency diseaseHereditary fructosuriaHereditary gingival fibromatosisHereditary glaucoma, primary closed-angleHereditary hemorrhagic telangiectasiaHereditary hollow viscus myopathyHereditary hypercarotenemia and vitamin A deficiencyHereditary hyperekplexiaHereditary hyperferritinemia with congenital cataractsHereditary hypotrichosis with recurrent skin vesiclesHereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndromeHereditary insensitivity to pain with anhidrosisHereditary intrinsic factor deficiencyHereditary leiomyomatosis and renal cell cancerHereditary liability to pressure palsiesHereditary lymphedema type IHereditary methemoglobinemiaHereditary mixed polyposis syndromeHereditary motor and sensory neuropathy with optic atrophyHereditary motor and sensory neuropathy, Okinawa typeHereditary mucoepithelial dysplasiaHereditary myopathy with lactic acidosis due to ISCU deficiencyHereditary neuroendocrine tumor of small intestineHereditary neutrophiliaHereditary North American Indian childhood cirrhosisHereditary orotic aciduriaHereditary pancreatitisHereditary papillary renal cell carcinomaHereditary persistence of fetal hemoglobinHereditary persistence of fetal hemoglobin-beta-thalassemia syndromeHereditary persistence of fetal hemoglobin-intellectual disability syndromeHereditary persistence of fetal hemoglobin-sickle cell disease syndromeHereditary pulmonary alveolar proteinosisHereditary recurrent myoglobinuriaHereditary retinoblastomaHereditary sclerosing poikiloderma with tendon and pulmonary involvementHereditary sensorimotor neuropathy with hyperelastic skinHereditary sensory and autonomic neuropathy type 1Hereditary sensory and autonomic neuropathy type 2Hereditary sensory and autonomic neuropathy type 6Hereditary sensory and autonomic neuropathy type 7Hereditary sensory and autonomic neuropathy with spastic paraplegiaHereditary sensory neuropathy-deafness-dementia syndromeHereditary spastic paraplegia 10Hereditary spastic paraplegia 11Hereditary spastic paraplegia 12Hereditary spastic paraplegia 13Hereditary spastic paraplegia 15Hereditary spastic paraplegia 17Hereditary spastic paraplegia 18Hereditary spastic paraplegia 2Hereditary spastic paraplegia 23Hereditary spastic paraplegia 26Hereditary spastic paraplegia 28Hereditary spastic paraplegia 30Hereditary spastic paraplegia 31Hereditary spastic paraplegia 33Hereditary spastic paraplegia 35Hereditary spastic paraplegia 37Hereditary spastic paraplegia 39Hereditary spastic paraplegia 3AHereditary spastic paraplegia 4Hereditary spastic paraplegia 42Hereditary spastic paraplegia 43Hereditary spastic paraplegia 44Hereditary spastic paraplegia 45Hereditary spastic paraplegia 46Hereditary spastic paraplegia 47Hereditary spastic paraplegia 48Hereditary spastic paraplegia 49Hereditary spastic paraplegia 50Hereditary spastic paraplegia 51Hereditary spastic paraplegia 52Hereditary spastic paraplegia 53Hereditary spastic paraplegia 54Hereditary spastic paraplegia 55Hereditary spastic paraplegia 56Hereditary spastic paraplegia 57Hereditary spastic paraplegia 5AHereditary spastic paraplegia 6Hereditary spastic paraplegia 61Hereditary spastic paraplegia 62Hereditary spastic paraplegia 63Hereditary spastic paraplegia 64Hereditary spastic paraplegia 7Hereditary spastic paraplegia 72Hereditary spastic paraplegia 73Hereditary spastic paraplegia 74Hereditary spastic paraplegia 75Hereditary spastic paraplegia 77Hereditary spastic paraplegia 8Hereditary spastic paraplegia 9AHereditary spherocytosisHereditary spherocytosis type 1Hereditary spherocytosis type 2Hereditary spherocytosis type 3Hereditary spherocytosis type 4Hereditary spherocytosis type 5Hereditary thrombocytopenia and hematologic cancer predisposition syndromeHereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1Hereditary thrombocytosis with transverse limb defectHereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiencyHereditary thrombophilia due to congenital protein C deficiencyHereditary thrombophilia due to congenital protein S deficiencyHereditary xanthinuria type 1Heritable pulmonary arterial hypertensionHermansky-Pudlak syndrome 1Hermansky-Pudlak syndrome 10Hermansky-Pudlak syndrome 11Hermansky-Pudlak syndrome 2Hermansky-Pudlak syndrome 3Hermansky-Pudlak syndrome 4Hermansky-Pudlak syndrome 5Hermansky-Pudlak syndrome 6Hermansky-Pudlak syndrome 7Hermansky-Pudlak syndrome 8Hermansky-Pudlak syndrome 9Hermansky-Pudlak syndrome with pulmonary fibrosisHermansky-Pudlak syndrome without pulmonary fibrosisHernia, anterior diaphragmaticHerpes simplex encephalitisHeterotaxy, visceral, 1, X-linkedHeterotaxy, visceral, 10, autosomal, with male infertilityHeterotaxy, visceral, 11, autosomal, with male infertilityHeterotaxy, visceral, 12, autosomalHeterotaxy, visceral, 13, autosomalHeterotaxy, visceral, 14, autosomalHeterotaxy, visceral, 2, autosomalHeterotaxy, visceral, 4, autosomalHeterotaxy, visceral, 5, autosomalHeterotaxy, visceral, 6, autosomalHeterotaxy, visceral, 7, autosomalHeterotaxy, visceral, 8, autosomalHeterotaxy, visceral, 9, autosomal, with male infertilityHeterotopia, periventricular, X-linked dominantHeyn-Sproul-Jackson syndromeHGSNAT-related retinopathyHidrotic ectodermal dysplasia syndromeHigh bone mass osteogenesis imperfectaHigh molecular weight kininogen deficiencyHigh myopia-sensorineural deafness syndromeHip dysplasia, Beukes typeHistidinemiaHistiocytic medullary reticulosisHMGB1-related brachyphalangy, polydactyly and tibial aplasia syndromeHNSHA due to aldolase A deficiencyHogue-Janssens syndrome 1Holocarboxylase synthetase deficiencyHoloprosencephaly 10Holoprosencephaly 11Holoprosencephaly 12 with or without pancreatic agenesisHoloprosencephaly 13, X-linkedHoloprosencephaly 14Holoprosencephaly 2Holoprosencephaly 3Holoprosencephaly 4Holoprosencephaly 5Holoprosencephaly 7Holoprosencephaly 9Holoprosencephaly-hypokinesia-congenital contractures syndromeHolt-Oram syndromeHomocystinuria due to methylene tetrahydrofolate reductase deficiencyHomocystinuria-megaloblastic anemia cblD typeHomozygous familial hypercholesterolemiaHorizontal gaze palsy with progressive scoliosisHot water reflex epilepsyHouge-Janssens syndrome 2Hoyeraal-Hreidarsson syndromeHSD10 disease, atypical typeHSD10 disease, infantile typeHSD10 disease, neonatal typeHSD10 mitochondrial diseaseHTRA1-related autosomal dominant cerebral small vessel diseaseHuman HOXA1 syndromesHuntington diseaseHuntington disease-like 1Huntington disease-like 2Huntington disease-like syndrome due to C9ORF72 expansionsHuppke-Brendel syndromeHurler syndromeHurthle cell carcinoma of thyroidHutchinson-Gilford syndromeHyaline fibromatosis syndromeHydatidiform mole, recurrent, 1Hydatidiform mole, recurrent, 2Hydatidiform mole, recurrent, 3Hydatidiform mole, recurrent, 4HydranencephalyHydrocephalus, congenital communicating, 1Hydrocephalus, congenital, 3, with brain anomaliesHydrocephalus, nonsyndromic, autosomal recessive 1Hydrocephalus, nonsyndromic, autosomal recessive 2Hydrolethalus syndromeHydrolethalus syndrome 1Hydrolethalus syndrome 2Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndromeHydroxykynureninuriaHyper-IgE recurrent infection syndrome 1, autosomal dominantHyper-IgE recurrent infection syndrome 3, autosomal recessiveHyper-IgE recurrent infection syndrome 4, autosomal recessiveHyper-IgE recurrent infection syndrome 4A, autosomal dominantHyper-IgE recurrent infection syndrome 5, autosomal recessiveHyper-IgE syndrome 6, autosomal dominant, with recurrent infectionsHyper-IgM syndrome type 1Hyper-IgM syndrome type 2Hyper-IgM syndrome type 3Hyper-IgM syndrome type 5Hyperaldosteronism, familial, type IVHyperalphalipoproteinemiaHyperammonemia, type IIIHyperammonemic encephalopathy due to carbonic anhydrase VA deficiencyHyperbiliverdinemiaHypercalcemia, infantile, 1Hypercalcemia, infantile, 2Hypercholanemia, familial 1Hypercholanemia, familial, 2Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiencyHypercholesterolemia, autosomal dominant, 3Hypercholesterolemia, familial, 1Hypercholesterolemia, familial, 4Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiencyHyperekplexia 1Hyperekplexia 2Hyperekplexia 3Hyperekplexia 4Hyperimmunoglobulin D with periodic feverHyperinsulinemic hypoglycemia, familial, 1Hyperinsulinemic hypoglycemia, familial, 2Hyperinsulinemic hypoglycemia, familial, 4Hyperinsulinemic hypoglycemia, familial, 8Hyperinsulinism due to glucokinase deficiencyHyperinsulinism due to HNF1A deficiencyHyperinsulinism due to HNF4A deficiencyHyperinsulinism due to INSR deficiencyHyperinsulinism due to UCP2 deficiencyHyperinsulinism-hyperammonemia syndromeHyperkalemic periodic paralysisHyperlipidemia due to hepatic triglyceride lipase deficiencyHyperlipidemia, familial combined, LPL relatedHyperlipoproteinemia, type 1DHyperlipoproteinemia, type IHyperlysinemiaHypermanganesemia with dystonia 2Hypermanganesemia with dystonia, polycythemia, and cirrhosisHypermethioninemia with deficiency of S-adenosylhomocysteine hydrolaseHyperornithinemia-hyperammonemia-homocitrullinuria syndromeHyperostosis cranialis internaHyperparathyroidism 1Hyperparathyroidism 2 with jaw tumorsHyperparathyroidism 4Hyperparathyroidism, transient neonatalHyperphenylalaninemia due to DNAJC12 deficiencyHyperphosphatasemia tardaHyperphosphatasemia with bone diseaseHyperphosphatasia with intellectual disability syndrome 1Hyperphosphatasia with intellectual disability syndrome 2Hyperphosphatasia with intellectual disability syndrome 3Hyperphosphatasia with intellectual disability syndrome 4Hyperphosphatasia with intellectual disability syndrome 5Hyperphosphatasia with intellectual disability syndrome 6Hyperphosphatasia-intellectual disability syndromeHyperpigmentation with or without hypopigmentation, familial progressiveHyperplastic polyposis syndromeHyperprolinemia type 2Hypertrichotic osteochondrodysplasia Cantu typeHypertriglyceridemia 1Hypertriglyceridemia 2Hypertrophic cardiomyopathy 1Hypertrophic cardiomyopathy 10Hypertrophic cardiomyopathy 11Hypertrophic cardiomyopathy 12Hypertrophic cardiomyopathy 13Hypertrophic cardiomyopathy 14Hypertrophic cardiomyopathy 15Hypertrophic cardiomyopathy 16Hypertrophic cardiomyopathy 17Hypertrophic cardiomyopathy 18Hypertrophic cardiomyopathy 2Hypertrophic cardiomyopathy 20Hypertrophic cardiomyopathy 25Hypertrophic cardiomyopathy 26Hypertrophic cardiomyopathy 3Hypertrophic cardiomyopathy 4Hypertrophic cardiomyopathy 6Hypertrophic cardiomyopathy 7Hypertrophic cardiomyopathy 8Hypertrophic cardiomyopathy 9Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutationHypertrophic osteoarthropathy, primary, autosomal dominantHypertrophic osteoarthropathy, primary, autosomal recessive, 1Hypertrophic osteoarthropathy, primary, autosomal recessive, 2Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndromeHypervalinemia and hyperleucine-isoleucinemiaHyperzincemia and hypercalprotectinemiaHypoalphalipoproteinemia, primary, 1Hypoalphalipoproteinemia, primary, 2Hypoalphalipoproteinemia, primary, 2, intermediateHypochondrogenesisHypochondroplasiaHypocomplementemic urticarial vasculitisHypodontiaHypogonadism with anosmiaHypogonadotropic hypogonadismHypogonadotropic hypogonadism 1 with or without anosmiaHypogonadotropic hypogonadism 10 with or without anosmiaHypogonadotropic hypogonadism 11 with or without anosmiaHypogonadotropic hypogonadism 12 with or without anosmiaHypogonadotropic hypogonadism 13 with or without anosmiaHypogonadotropic hypogonadism 14 with or without anosmiaHypogonadotropic hypogonadism 15 with or without anosmiaHypogonadotropic hypogonadism 16 with or without anosmiaHypogonadotropic hypogonadism 17 with or without anosmiaHypogonadotropic hypogonadism 18 with or without anosmiaHypogonadotropic hypogonadism 19 with or without anosmiaHypogonadotropic hypogonadism 2 with or without anosmiaHypogonadotropic hypogonadism 20 with or without anosmiaHypogonadotropic hypogonadism 21 with or without anosmiaHypogonadotropic hypogonadism 22 with or without anosmiaHypogonadotropic hypogonadism 24 without anosmiaHypogonadotropic hypogonadism 25 with anosmiaHypogonadotropic hypogonadism 26 with or without anosmiaHypogonadotropic hypogonadism 27 without anosmiaHypogonadotropic hypogonadism 3 with or without anosmiaHypogonadotropic hypogonadism 4 with or without anosmiaHypogonadotropic hypogonadism 5 with or without anosmiaHypogonadotropic hypogonadism 6 with or without anosmiaHypogonadotropic hypogonadism 7 with or without anosmiaHypogonadotropic hypogonadism 8 with or without anosmiaHypogonadotropic hypogonadism 9 with or without anosmiaHypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndromeHypohidrotic X-linked ectodermal dysplasiaHypoinsulinemic hypoglycemia and body hemihypertrophyHypokalemic periodic paralysisHypokalemic periodic paralysis, type 1Hypokalemic periodic paralysis, type 2Hypomagnesemia 7, renal, with or without dilated cardiomyopathyHypomagnesemia, seizures, and intellectual disability 1Hypomagnesemia, seizures, and intellectual disability 2Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontismHypomyelinating leukodystrophy 10Hypomyelinating leukodystrophy 11Hypomyelinating leukodystrophy 12Hypomyelinating leukodystrophy 13Hypomyelinating leukodystrophy 2Hypomyelinating leukodystrophy 3Hypomyelinating leukodystrophy 4Hypomyelinating leukodystrophy 6Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadismHypomyelinating leukodystrophy 9Hypomyelination and Congenital CataractHypomyelination with brain stem and spinal cord involvement and leg spasticityHypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndromeHypoparathyroidism - X-linkedHypoparathyroidism-retardation-dysmorphism syndromeHypoparathyroidism, deafness, renal disease syndromeHypoparathyroidism, familial isolated 1Hypoparathyroidism, familial isolated, 2Hypopharynx squamous cell carcinomaHypophosphatasiaHypophosphatemic nephrolithiasis/osteoporosis 1Hypophosphatemic nephrolithiasis/osteoporosis 2Hypophosphatemic rickets, autosomal recessive, 1Hypophosphatemic rickets, autosomal recessive, 2Hypophosphatemic rickets, X-linked recessiveHypopigmentation-punctate palmoplantar keratoderma syndromeHypoplastic enamel-onycholysis-hypohidrosis syndromeHypoplastic left heart syndrome 2Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndromeHypoproteinemia, hypercatabolicHypospadias 1, X-linkedHypospadias 2, X-linkedHypothalamic hypothyroidismHypothyroidism due to deficient transcription factors involved in pituitary development or functionHypothyroidism due to TSH receptor mutationsHypothyroidism, congenital, nongoitrous, 2Hypothyroidism, congenital, nongoitrous, 5Hypothyroidism, congenital, nongoitrous, 7Hypothyroidism, congenital, nongoitrous, 8Hypothyroidism, congenital, nongoitrous, 9Hypotonia with lactic acidemia and hyperammonemiaHypotonia-failure to thrive-microcephaly syndromeHypotonia, ataxia, and delayed development syndromeHypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalitiesHypotonia, infantile, with psychomotor retardation and characteristic facies 1Hypotonia, infantile, with psychomotor retardation and characteristic facies 2Hypotonia, infantile, with psychomotor retardation and characteristic facies 3Hypotrichosis 1Hypotrichosis 11Hypotrichosis 12Hypotrichosis 13Hypotrichosis 14Hypotrichosis 2Hypotrichosis 3Hypotrichosis 4Hypotrichosis 5Hypotrichosis 6Hypotrichosis 7Hypotrichosis 8Hypotrichosis simplexHypotrichosis simplex of the scalpHypotrichosis-lymphedema-telangiectasia syndromeHypotrichosis-lymphedema-telangiectasia syndrome (grouping)Hypotrichosis-lymphedema-telangiectasia-renal defect syndromeHypouricemia, renal, 2Ichthyosis bullosa of SiemensIchthyosis hystrix graviorIchthyosis hystrix of Curth-MacklinIchthyosis prematurity syndromeIchthyosis vulgarisIchthyosis with erythrokeratodermaIchthyosis, annular epidermolytic 1Ichthyosis, annular epidermolytic, 2Ichthyosis, congenital, autosomal recessive 12Ichthyosis, congenital, autosomal recessive 13Ichthyosis, congenital, autosomal recessive 14Ichthyosis, hystrix-like, with hearing lossIDH3B-related retinopathyIdiopathic achalasiaIdiopathic basal ganglia calcification 1Idiopathic bronchiectasisIdiopathic CD4 lymphocytopeniaIdiopathic hypereosinophilic syndromeIdiopathic multidrug-resistant nephrotic syndromeIdiopathic Pulmonary FibrosisIFAP syndrome 1, with or without BRESHECK syndromeIFAP syndrome 2IFIH1-related type 1 interferonopathyIKZF2-related combined immunodeficiencyIL10-related early-onset inflammatory bowel diseaseIL21-related infantile inflammatory bowel diseaseImagawa-Matsumoto syndromeIMAGe syndromeImerslund-Grasbeck syndromeImerslund-Grasbeck syndrome type 1Imerslund-Grasbeck syndrome type 2IminoglycinuriaImmune deficiency due to impaired neutrophil phagocytosis and migrationImmune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndromeImmunodeficiency 102Immunodeficiency 104Immunodeficiency 105Immunodeficiency 109 with lymphoproliferationImmunodeficiency 114, folate-responsiveImmunodeficiency 120Immunodeficiency 14Immunodeficiency 15aImmunodeficiency 18Immunodeficiency 19Immunodeficiency 23Immunodeficiency 25Immunodeficiency 28Immunodeficiency 31BImmunodeficiency 32BImmunodeficiency 33Immunodeficiency 35Immunodeficiency 36 with lymphoproliferationImmunodeficiency 37Immunodeficiency 39Immunodeficiency 47Immunodeficiency 49Immunodeficiency 51Immunodeficiency 53Immunodeficiency 61Immunodeficiency 64Immunodeficiency 67Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaImmunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaImmunodeficiency 75Immunodeficiency 76Immunodeficiency 79Immunodeficiency 94 with autoinflammation and dysmorphic faciesImmunodeficiency 98 with autoinflammation, X-linkedImmunodeficiency due to a classical component pathway complement deficiencyImmunodeficiency due to a late component of complement deficiencyImmunodeficiency due to CD25 deficiencyImmunodeficiency due to ficolin3 deficiencyImmunodeficiency due to MASP-2 deficiencyImmunodeficiency with factor H anomalyImmunodeficiency-centromeric instability-facial anomalies syndrome 1Immunodeficiency-centromeric instability-facial anomalies syndrome 2Immunodeficiency-centromeric instability-facial anomalies syndrome 3Immunodeficiency-centromeric instability-facial anomalies syndrome 4Immunodeficiency, common variable, 1Immunodeficiency, common variable, 10Immunodeficiency, common variable, 12Immunodeficiency, common variable, 14Immunodeficiency, common variable, 15Immunodeficiency, common variable, 2Immunodeficiency, common variable, 3Immunodeficiency, common variable, 4Immunodeficiency, common variable, 5Immunodeficiency, common variable, 6Immunodeficiency, common variable, 7Immunodeficiency, common variable, due to APRIL deficiencyImmunoglobulin A deficiency 2Immunoglobulin-mediated membranoproliferative glomerulonephritisImmunoskeletal dysplasia with neurodevelopmental abnormalitiesIMPDH1-related retinopathyIMPG1-related dominant retinopathyIMPG1-related recessive retinopathyIMPG2-related dominant retinopathyIMPG2-related recessive retinopathyInborn glycerol kinase deficiencyInclusion body myopathy and brain white matter abnormalitiesInclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaInclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1Incontinentia pigmenti syndromeInfantile cerebellar-retinal degenerationInfantile cerebral and cerebellar atrophy with postnatal progressive microcephalyInfantile convulsions and choreoathetosisInfantile cortical hyperostosisInfantile epileptic dyskinetic encephalopathyInfantile glycine encephalopathyInfantile GM1 gangliosidosisInfantile hypertrophic cardiomyopathy due to MRPL44 deficiencyInfantile hypophosphatasiaInfantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeInfantile Krabbe diseaseInfantile liver failureInfantile liver failure syndrome 1Infantile liver failure syndrome 2Infantile liver failure syndrome 3Infantile myofibromatosisInfantile nephronophthisisInfantile nephropathic cystinosisInfantile neuroaxonal dystrophyInfantile onset spinocerebellar ataxiaInfantile osteopetrosis with neuroaxonal dysplasiaInfantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndromeInfantile systemic hyalinosisInfantile-onset ascending hereditary spastic paralysisInfantile-onset generalized dyskinesia with orofacial involvementInfantile-onset mesial temporal lobe epilepsy with severe cognitive regressionInfantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemiaInfantile-onset X-linked spinal muscular atrophyInfertility associated with multi-tailed spermatozoa and excessive DNAInflammatory bowel disease 1Inflammatory bowel disease 25Inflammatory bowel disease 28Inflammatory bowel disease, immunodeficiency, and encephalopathyInflammatory poikiloderma with hair abnormalities and acral keratosesInflammatory skin and bowel disease, neonatal, 1Inflammatory skin and bowel disease, neonatal, 2Inherited acute myeloid leukemiaInherited Creutzfeldt-Jakob diseaseInherited isolated adrenal insufficiency due to partial CYP11A1 deficiencyInherited obesityInherited prekallikrein deficiencyInsulin-dependent diabetes mellitus secretory diarrhea syndromeInsulin-resistant diabetes mellitus AND acanthosis nigricansIntellectual developmental disorder 59Intellectual developmental disorder 60 with seizuresIntellectual developmental disorder 61Intellectual developmental disorder 62Intellectual developmental disorder and retinitis pigmentosa; IDDRPIntellectual developmental disorder with abnormal behavior, microcephaly, and short statureIntellectual developmental disorder with autism and macrocephalyIntellectual developmental disorder with autistic features and language delay, with or without seizuresIntellectual developmental disorder with cardiac defects and dysmorphic faciesIntellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomaliesIntellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse faciesIntellectual developmental disorder with gastrointestinal difficulties and high pain thresholdIntellectual developmental disorder with impaired language and dysmorphic faciesIntellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonismIntellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadismIntellectual developmental disorder with seizures and language delayIntellectual developmental disorder with severe speech and ambulation defectsIntellectual developmental disorder with short stature and behavioral abnormalitiesIntellectual developmental disorder with speech delay and axonal peripheral neuropathyIntellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalitiesIntellectual developmental disorder, autosomal dominant 63, with macrocephalyIntellectual developmental disorder, autosomal dominant 64Intellectual developmental disorder, autosomal dominant 65Intellectual developmental disorder, autosomal dominant 72Intellectual developmental disorder, autosomal dominant 73Intellectual developmental disorder, autosomal recessive 67Intellectual developmental disorder, autosomal recessive 68Intellectual developmental disorder, autosomal recessive 69Intellectual developmental disorder, autosomal recessive 70Intellectual developmental disorder, autosomal recessive 71Intellectual developmental disorder, autosomal recessive 72Intellectual developmental disorder, autosomal recessive 73Intellectual developmental disorder, autosomal recessive 74Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephalyIntellectual developmental disorder, autosomal recessive 76Intellectual developmental disorder, autosomal recessive 77Intellectual developmental disorder, autosomal recessive 78Intellectual developmental disorder, autosomal recessive 79Intellectual developmental disorder, autosomal recessive 80, with variant lissencephalyIntellectual developmental disorder, autosomal recessive 81Intellectual developmental disorder, autosomal recessive 82Intellectual developmental disorder, autosomal recessive 83Intellectual developmental disorder, X-linked 108Intellectual developmental disorder, X-linked 110Intellectual developmental disorder, X-linked 111Intellectual developmental disorder, X-linked 112Intellectual developmental disorder, X-linked 113Intellectual developmental disorder, X-linked 114Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato typeIntellectual developmental disorder, X-linked, syndromic, Pilorge typeIntellectual disability syndrome due to a DYRK1A point mutationIntellectual disability-cardiac anomalies-short stature-joint laxity syndromeIntellectual disability-early-onset cataract-microcephaly syndromeIntellectual disability-epilepsy-dental anomalies-facial dysmorphism syndromeIntellectual disability-epilepsy-extrapyramidal syndromeIntellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyIntellectual disability-feeding difficulties-developmental delay-microcephaly syndromeIntellectual disability-hyperkinetic movement-truncal ataxia syndromeIntellectual disability-hypotonia-spasticity-sleep disorder syndromeIntellectual disability-hypotonic facies syndrome, X-linked, 1Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndromeIntellectual disability-obesity-brain malformations-facial dysmorphism syndromeIntellectual disability-severe speech delay-mild dysmorphism syndromeIntellectual disability-strabismus syndromeIntellectual disability, anterior maxillary protrusion, and strabismusIntellectual disability, autosomal dominant 1Intellectual disability, autosomal dominant 10Intellectual disability, autosomal dominant 11Intellectual disability, autosomal dominant 13Intellectual disability, autosomal dominant 14Intellectual disability, autosomal dominant 15Intellectual disability, autosomal dominant 16Intellectual disability, autosomal dominant 2Intellectual disability, autosomal dominant 22Intellectual disability, autosomal dominant 24Intellectual disability, autosomal dominant 29Intellectual disability, autosomal dominant 3Intellectual disability, autosomal dominant 30Intellectual disability, autosomal dominant 33Intellectual disability, autosomal dominant 34Intellectual disability, autosomal dominant 38Intellectual disability, autosomal dominant 40Intellectual disability, autosomal dominant 41Intellectual disability, autosomal dominant 42Intellectual disability, autosomal dominant 43Intellectual disability, autosomal dominant 45Intellectual disability, autosomal dominant 46Intellectual disability, autosomal dominant 47Intellectual disability, autosomal dominant 48Intellectual disability, autosomal dominant 5Intellectual disability, autosomal dominant 50Intellectual disability, autosomal dominant 51Intellectual disability, autosomal dominant 52Intellectual disability, autosomal dominant 53Intellectual disability, autosomal dominant 54Intellectual disability, autosomal dominant 55, with seizuresIntellectual disability, autosomal dominant 56Intellectual disability, autosomal dominant 57Intellectual disability, autosomal dominant 58Intellectual disability, autosomal dominant 6Intellectual disability, autosomal dominant 9Intellectual disability, autosomal recessive 1Intellectual disability, autosomal recessive 12Intellectual disability, autosomal recessive 13Intellectual disability, autosomal recessive 14Intellectual disability, autosomal recessive 18Intellectual disability, autosomal recessive 2Intellectual disability, autosomal recessive 27Intellectual disability, autosomal recessive 3Intellectual disability, autosomal recessive 34Intellectual disability, autosomal recessive 42Intellectual disability, autosomal recessive 43Intellectual disability, autosomal recessive 44Intellectual disability, autosomal recessive 45Intellectual disability, autosomal recessive 46Intellectual disability, autosomal recessive 47Intellectual disability, autosomal recessive 5Intellectual disability, autosomal recessive 50Intellectual disability, autosomal recessive 51Intellectual disability, autosomal recessive 52Intellectual disability, autosomal recessive 53Intellectual disability, autosomal recessive 54Intellectual disability, autosomal recessive 56Intellectual disability, autosomal recessive 57Intellectual disability, autosomal recessive 58Intellectual disability, autosomal recessive 59Intellectual disability, autosomal recessive 6Intellectual disability, autosomal recessive 60Intellectual disability, autosomal recessive 61Intellectual disability, autosomal recessive 63Intellectual disability, autosomal recessive 64Intellectual disability, autosomal recessive 65Intellectual disability, autosomal recessive 66Intellectual disability, autosomal recessive 7Intellectual disability, X-linked 1Intellectual disability, X-linked 100Intellectual disability, X-linked 101Intellectual disability, X-linked 102Intellectual disability, X-linked 103Intellectual disability, X-linked 104Intellectual disability, X-linked 105Intellectual disability, X-linked 106Intellectual disability, X-linked 107Intellectual disability, X-linked 19Intellectual disability, X-linked 21Intellectual disability, X-linked 30Intellectual disability, X-linked 41Intellectual disability, X-linked 49Intellectual disability, X-linked 50Intellectual disability, X-linked 58Intellectual disability, X-linked 61Intellectual disability, X-linked 63Intellectual disability, X-linked 72Intellectual disability, X-linked 9Intellectual disability, X-linked 90Intellectual disability, X-linked 93Intellectual disability, X-linked 96Intellectual disability, X-linked 97Intellectual disability, X-linked 99Intellectual disability, X-linked 99, syndromic, female-restrictedIntellectual disability, X-linked syndromic, Turner typeIntellectual disability, X-linked, syndromic 33Intellectual disability, X-linked, syndromic, 35Intellectual disability, X-linked, syndromic, Bain typeIntellectual disability, X-linked, syndromic, Houge typeIntellectual disability, X-linked, with or without seizures, ARX-relatedIntellectual disability, X-linked, with panhypopituitarismInterfrontal craniofaciosynostosisIntermediate collagen VI-related muscular dystrophyIntermediate DEND syndromeIntermediate maple syrup urine diseaseIntermediate nemaline myopathyIntermediate severe Salla diseaseIntermittent maple syrup urine diseaseInterstitial lung disease due to ABCA3 deficiencyIntestinal hypomagnesemia 1Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiencyIntestinal pseudoobstruction, neuronal, chronic idiopathic, X-linkedIntracranial berry aneurysmIntrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndromeIntrauterine growth restriction-short stature-early adult-onset diabetes syndromeIntrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiencyIntravascular large B-cell lymphomaINTU-related skeletal ciliopathyIodotyrosine deiodination defectIodotyrosyl coupling defectIrido-corneo-trabecular dysgenesisIris colobomaIron-refractory iron deficiency anemiaIsolated anhidrosis with normal sweat glandsIsolated aniridiaIsolated asymptomatic elevation of creatine phosphokinaseIsolated autosomal dominant hypomagnesemia, Glaudemans typeIsolated bone marrow mastocytosisIsolated congenital breast hypoplasia/aplasiaIsolated congenital digital clubbingIsolated congenital megalocorneaIsolated cryptophthalmiaIsolated Dandy-Walker malformation without hydrocephalusIsolated delta-storage pool diseaseIsolated ectopia lentisIsolated focal cortical dysplasia type IaIsolated focal cortical dysplasia type IIIsolated focal cortical dysplasia type IIaIsolated focal cortical dysplasia type IIbIsolated focal non-epidermolytic palmoplantar keratodermaIsolated growth hormone deficiency type IBIsolated growth hormone deficiency, type 4Isolated growth hormone deficiency, type 5Isolated hemihyperplasiaIsolated hyperchlorhidrosisIsolated lutropin deficiencyIsolated methylmalonic aciduria cblD typeIsolated micronodular adrenocortical diseaseIsolated microphthalmia 2Isolated microphthalmia 3Isolated microphthalmia 4Isolated microphthalmia 5Isolated microphthalmia 6Isolated microphthalmia 7Isolated microphthalmia 8Isolated neonatal sclerosing cholangitisIsolated optic nerve hypoplasiaIsolated osteopoikilosisIsolated Pierre-Robin syndromeIsolated primary pigmented nodular adrenocortical diseaseIsolated sedoheptulokinase deficiencyIsolated thyroid-stimulating hormone deficiencyIsovaleryl-CoA dehydrogenase deficiencyJackson-Weiss syndromeJalili syndromeJawad syndromeJervell and Lange-Nielsen syndromeJervell and Lange-Nielsen syndrome 1Jervell and Lange-Nielsen syndrome 2Jeune syndrome - GRK2-relatedJeune thoracic dystrophyJohanson-Blizzard syndromeJoint laxity, short stature, and myopiaJoubert syndromeJoubert syndrome 1Joubert syndrome 10Joubert syndrome 13Joubert syndrome 14Joubert syndrome 15Joubert syndrome 16Joubert syndrome 17Joubert syndrome 18Joubert syndrome 2Joubert syndrome 20Joubert syndrome 21Joubert syndrome 22Joubert syndrome 23Joubert syndrome 24Joubert syndrome 25Joubert syndrome 26Joubert syndrome 27Joubert syndrome 28Joubert syndrome 3Joubert syndrome 30Joubert syndrome 31Joubert syndrome 32Joubert syndrome 33Joubert syndrome 35Joubert syndrome 36Joubert syndrome 37Joubert syndrome 38Joubert syndrome 39Joubert syndrome 40Joubert syndrome 5Joubert syndrome 6Joubert syndrome 7Joubert syndrome 8Joubert syndrome 9Joubert syndrome with Jeune asphyxiating thoracic dystrophyJoubert syndrome with ocular defectJoubert syndrome with oculorenal defectJoubert syndrome with renal defectJuberg-Hayward syndromeJunctional epidermolysis bullosa gravis of HerlitzJunctional epidermolysis bullosa with pyloric atresiaJunctional epidermolysis bullosa, non-Herlitz typeJuvenile absence epilepsyJuvenile amyotrophic lateral sclerosisJuvenile arthritis due to defect in LACC1Juvenile cataract-microcornea-renal glucosuria syndromeJuvenile hemochromatosisJuvenile Huntington diseaseJuvenile hyaline fibromatosisJuvenile myelomonocytic leukemiaJuvenile myoclonic epilepsyJuvenile nephropathic cystinosisJuvenile onset Parkinson disease 19AJuvenile or adult CACH syndromeJuvenile polyposis syndromeJuvenile polyposis/hereditary hemorrhagic telangiectasia syndromeJuvenile primary lateral sclerosisJuvenile retinoschisisJuvenile sialidosis type 2Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndromeJuvenile-onset Steinert myotonic dystrophyKabuki syndromeKabuki syndrome 1Kabuki syndrome 2Kaposiform hemangioendotheliomaKartagener syndromeKaryomegalic interstitial nephritisKaya-Barakat-Masson syndromeKBG syndromeKCNH1 associated disorderKCNV2-related retinopathyKDM3B-related intellectual disability-facial dysmorphism-short stature syndromeKearns-Sayre syndromeKeipert syndromeKennedy diseaseKeppen-Lubinsky syndromeKeratitis fugax hereditariaKeratitis ichthyosis and deafness syndromeKeratoconus 1Keratoconus 9Keratoderma with scleroatrophy of the extremitiesKeratolytic winter erythemaKeratosis follicularisKeratosis follicularis spinulosa decalvansKeratosis follicularis spinulosa decalvans, X-linkedKeratosis linearis-ichthyosis congenita-sclerosing keratoderma syndromeKeratosis palmoplantaris striata 2Keratosis palmoplantaris striata 3Keratosis pilaris atrophicansKetoacidosis due to monocarboxylate transporter-1 deficiencyKeutel syndromeKidney Wilms tumorKIF7-related ciliopathyKilquist syndromeKindler syndromeKing Denborough syndromeKIZ-related retinopathyKleefstra syndrome 1Kleefstra syndrome 2Kleefstra syndrome due to a point mutationKLHL7-related Bohring-Opitz-like syndromeKLHL7-related cold-induced sweating-like syndromeKLHL9-related early-onset distal myopathyKlippel-Feil anomaly-myopathy-facial dysmorphism syndromeKlippel-Feil syndromeKlippel-Feil syndrome 1, autosomal dominantKlippel-Feil syndrome 2, autosomal recessiveKlippel-Feil syndrome 3, autosomal dominantKniest dysplasiaKnobloch syndrome 1Knobloch syndrome 2Knuckle pads, deafness AND leukonychia syndromeKoolen-de Vries syndromeKoolen-de Vries syndrome due to a point mutationKostmann syndromeKrabbe disease due to saposin A deficiencyKufor-Rakeb syndromeKugelberg-Welander diseaseKyphomelic dysplasiaKyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndromeKyphosis-lateral tongue atrophy-myofibrillar myopathy syndromeL-2-hydroxyglutaric aciduriaL-ferritin deficiencyLacrimoauriculodentodigital syndrome 2Lacrimoauriculodentodigital syndrome 3Lactic aciduria due to D-lactic acidLADD syndrome 1Lafora diseaseLAMA2-related muscular dystrophyLAMA5-related multisystemic syndromeLamb-Shaffer syndromeLamellar ichthyosisLandau-Kleffner syndromeLanger mesomelic dysplasia syndromeLangerhans cell histiocytosisLarge congenital melanocytic nevusLaron-type isolated somatotropin defectLarsen syndromeLarsen-like syndrome, B3GAT3 typeLaryngeal squamous cell carcinomaLaryngo-onycho-cutaneous syndromeLate infantile CACH syndromeLate-infantile/juvenile Krabbe diseaseLate-onset junctional epidermolysis bullosaLate-onset nephronophthisisLate-onset retinal degenerationLate-onset Steinert myotonic dystrophyLateral meningocele syndromeLathosterolosisLattice corneal dystrophy Type ILaurence-Moon syndromeLaurin-Sandrow syndromeLazy leukocyte syndromeLCA5-related retinopathyLeber congenital amaurosisLeber congenital amaurosis 1Leber congenital amaurosis 10Leber congenital amaurosis 11Leber congenital amaurosis 12Leber congenital amaurosis 13Leber congenital amaurosis 14Leber congenital amaurosis 15Leber congenital amaurosis 16Leber congenital amaurosis 17Leber congenital amaurosis 19Leber congenital amaurosis 2Leber congenital amaurosis 3Leber congenital amaurosis 4Leber congenital amaurosis 5Leber congenital amaurosis 6Leber congenital amaurosis 7Leber congenital amaurosis 8Leber congenital amaurosis 9Leber congenital amaurosis with early-onset deafnessLeber optic atrophyLeber plus diseaseLeber-like hereditary optic neuropathy, autosomal recessive 1Leber-like hereditary optic neuropathy, autosomal recessive 2Left ventricular noncompactionLeft ventricular noncompaction 1Left ventricular noncompaction 10Left ventricular noncompaction 7Left ventricular noncompaction 8Legg-Calve-Perthes diseaseLegius syndromeLeigh syndromeLennox-Gastaut syndromeLens colobomaLenz microphthalmia syndromeLenz-Majewski hyperostosis syndromeLEOPARD syndrome 1LEOPARD syndrome 2LEOPARD syndrome 3Leprechaunism syndromeLeri-Weill dyschondrosteosisLesch-Nyhan syndromeLessel-Kreienkamp syndromeLethal acantholytic epidermolysis bullosaLethal arteriopathy syndrome due to fibulin-4 deficiencyLethal arthrogryposis-anterior horn cell disease syndromeLethal congenital contracture syndrome 1Lethal congenital contracture syndrome 11Lethal congenital contracture syndrome 2Lethal congenital contracture syndrome 3Lethal congenital contracture syndrome 4Lethal congenital contracture syndrome 6Lethal congenital contracture syndrome 7Lethal congenital contracture syndrome 8Lethal congenital contracture syndrome 9Lethal congenital glycogen storage disease of heartLethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndromeLethal hydranencephaly-diaphragmatic hernia syndromeLethal infantile mitochondrial myopathyLethal Kniest-like syndromeLethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndromeLethal multiple pterygium syndromeLethal occipital encephalocele-skeletal dysplasia syndromeLethal osteosclerotic bone dysplasiaLethal polymalformative syndrome, Boissel typeLethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutationLethal tight skin contracture syndromeLeucine-induced hypoglycemiaLeukocyte adhesion deficiency 1Leukocyte adhesion deficiency 3Leukocyte adhesion deficiency type IILeukodystrophy, childhood-onset, remittingLeukodystrophy, hypomyelinating, 14Leukodystrophy, hypomyelinating, 15Leukodystrophy, hypomyelinating, 16Leukodystrophy, hypomyelinating, 17Leukodystrophy, hypomyelinating, 18Leukodystrophy, hypomyelinating, 19, transient infantileLeukodystrophy, hypomyelinating, 20Leukodystrophy, hypomyelinating, 21Leukodystrophy, hypomyelinating, 22Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathyLeukodystrophy, hypomyelinating, 24Leukodystrophy, hypomyelinating, 25Leukodystrophy, hypomyelinating, 26, with chondrodysplasiaLeukodystrophy, hypomyelinating, 27Leukodystrophy, hypomyelinating, 28Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeLeukoencephalopathy with calcifications and cystsLeukoencephalopathy with mild cerebellar ataxia and white matter edemaLeukoencephalopathy with vanishing white matter 1Leukoencephalopathy with vanishing white matter 2Leukoencephalopathy with vanishing white matter 3Leukoencephalopathy with vanishing white matter 4Leukoencephalopathy with vanishing white matter 5Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndromeLeukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarateLeukoencephalopathy, ataxia, hypodontia, hypomyelination syndromeLeukoencephalopathy, diffuse hereditary, with spheroids 1Leukoencephalopathy, hereditary diffuse, with spheroids 2Leukoencephalopathy, porphyria-relatedLeukoencephalopathy, progressive, with ovarian failureLeukonychia totalisLevy-Hollister syndromeLeydig cell agenesisLeydig cell hypoplasia due to complete LH resistanceLeydig cell hypoplasia due to partial LH resistanceLhermitte-Duclos diseaseLi-Fraumeni syndromeLi-Ghorbani-Weisz-Hubshman syndromeLiang-Wang syndromeLiberfarb syndromeLichtenstein-Knorr syndromeLiddle syndromeLiddle syndrome 1Liddle syndrome 2Liddle syndrome 3Limb-girdle muscular dystrophy due to POMK deficiencyLimb-mammary syndromeLinear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesLinear nevus sebaceous syndromeLinear skin defects with multiple congenital anomaliesLinear skin defects with multiple congenital anomalies 1Linear skin defects with multiple congenital anomalies 2Linear skin defects with multiple congenital anomalies 3Lipase deficiency, combinedLIPE-related familial partial lipodystrophyLipid proteinosisLipodystrophy, congenital generalized, type 5Lipodystrophy, familial partial, type 8Lipodystrophy, familial partial, type 9Lipoic acid synthetase deficiencyLipoprotein glomerulopathyLipoyl transferase 1 deficiencyLisch epithelial corneal dystrophyLissencephaly 10Lissencephaly 4Lissencephaly 6 with microcephalyLissencephaly 7 with cerebellar hypoplasiaLissencephaly 8Lissencephaly 9 with complex brainstem malformationLissencephaly due to LIS1 mutationLissencephaly due to TUBA1A mutationLissencephaly type 1 due to doublecortin gene mutationLMNA-related cardiocutaneous progeria syndromeLobar holoprosencephalyLocalized junctional epidermolysis bullosa, non-Herlitz typeLoeys-Dietz syndromeLoeys-Dietz syndrome 1Loeys-Dietz syndrome 2Loeys-Dietz syndrome 4Loeys-Dietz syndrome 6Long chain 3-hydroxyacyl-CoA dehydrogenase deficiencyLong QT syndrome 1Long QT syndrome 10Long QT syndrome 11Long QT syndrome 12Long QT syndrome 13Long QT syndrome 14Long QT syndrome 15Long QT syndrome 16Long QT syndrome 2Long QT syndrome 3Long QT syndrome 5Long QT syndrome 6Long QT syndrome 8Long QT syndrome 9Loricrin keratodermaLow phospholipid associated cholelithiasisLowe syndromeLower motor neuron syndrome with late-adult onsetLowry-Wood syndromeLRIT3-related retinopathyLRP5-related exudative vitreoretinopathyLRP5-related primary osteoporosisLucey-Driscoll syndromeLung lymphangioleiomyomatosisLuscan-Lumish syndromeLymphangiomyomatosisLymphatic malformation 10Lymphatic malformation 11Lymphatic malformation 12Lymphatic malformation 13Lymphatic malformation 14Lymphatic malformation 3Lymphatic malformation 4Lymphatic malformation 6Lymphatic malformation 7Lymphatic malformation 8Lymphatic malformation 9Lymphedema praecoxLymphedema-posterior choanal atresia syndromeLymphoma, non-Hodgkin, familialLymphoproliferative syndrome 1Lymphoproliferative syndrome 2Lynch syndrome 1Lynch syndrome 4Lynch syndrome 5Lynch syndrome 8Lysinuric protein intoleranceLZTFL1-related ciliopathyLZTR1-related schwannomatosisMachado-Joseph disease type 1Machado-Joseph disease type 2Machado-Joseph disease type 3Macrocephaly-autism syndromeMacrocephaly-developmental delay syndromeMacrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndromeMacrocephaly/megalencephaly syndrome, autosomal recessiveMacrodactyly of fingers, unilateralMacrodactyly of toes, unilateralMacroglobulinemia, Waldenstrom, 1Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossMacrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeMacrothrombocytopenia, isolated, 1, autosomal dominantMacrothrombocytopenia, isolated, 2, autosomal dominantMacular corneal dystrophyMacular degeneration, age-related, 3Macular degeneration, early-onsetMacular degeneration, X-linked atrophicMacular dystrophy with central cone involvementMacular dystrophy with or without cone dysfunctionMacular dystrophy, retinal, 4Maffucci syndromeMajeed syndromeMAK-related retinopathyMalan overgrowth syndromeMalariaMale infertility due to acephalic spermatozoaMale infertility due to globozoospermiaMaligant granulosa cell tumor of ovaryMalignant epithelial tumor of salivary glandsMalignant hyperthermia of anesthesiaMalignant migrating partial seizures of infancyMAN1B1-congenital disorder of glycosylationMandibular hypoplasia-deafness-progeroid syndromeMandibuloacral dysplasia progeroid syndromeMandibuloacral dysplasia with type A lipodystrophyMandibuloacral dysplasia with type B lipodystrophyMandibulofacial dysostosis with alopeciaMandibulofacial dysostosis-microcephaly syndromeMannose-binding lectin deficiencyMantle cell lymphomaMaple syrup urine disease type 1AMaple syrup urine disease type 1BMaple syrup urine disease type 2Maple syrup urine disease, mild variantMarbach-Rustad progeroid syndromeMarbach-Schaaf neurodevelopmental syndromeMarden-Walker syndromeMarfan syndromeMarie Unna syndromeMarinesco-Sjögren syndromeMarshall syndromeMarshall-Smith syndromeMartsolf syndrome 1Martsolf syndrome 2MASA syndromeMASS syndromeMast syndromeMaternal phenylketonuriaMaternal riboflavin deficiencyMaternally-inherited cardiomyopathy and hearing lossMaternally-inherited Leigh syndromeMaternally-inherited progressive external ophthalmoplegiaMaternally-inherited spastic paraplegiaMatthew-Wood syndromeMaturity onset diabetes mellitus in youngMaturity-onset diabetes of the young type 1Maturity-onset diabetes of the young type 10Maturity-onset diabetes of the young type 11Maturity-onset diabetes of the young type 13Maturity-onset diabetes of the young type 14Maturity-onset diabetes of the young type 2Maturity-onset diabetes of the young type 3Maturity-onset diabetes of the young type 4Maturity-onset diabetes of the young type 6Maturity-onset diabetes of the young type 7Maturity-onset diabetes of the young type 8Maturity-onset diabetes of the young type 9Mayer-Rokitansky-Küster-Hauser syndrome type 2McCune-Albright syndromeMcKusick-Kaufman syndromeMcLeod neuroacanthocytosis syndromeMeacham syndromeMeckel syndrome 13Meckel syndrome 14Meckel syndrome, type 1Meckel syndrome, type 10Meckel syndrome, type 11Meckel syndrome, type 2Meckel syndrome, type 3Meckel syndrome, type 4Meckel syndrome, type 5Meckel syndrome, type 6Meckel syndrome, type 8Meckel syndrome, type 9Meckel-Gruber syndromeMED12-related intellectual disability syndromeMedium-chain acyl-coenzyme A dehydrogenase deficiencyMEDNIK syndromeMedullary sponge kidneyMedulloblastomaMeesmann corneal dystrophyMeester-Loeys syndromeMegaconial type congenital muscular dystrophyMegacystis-microcolon-intestinal hypoperistalsis syndrome 1Megacystis-microcolon-intestinal hypoperistalsis syndrome 2Megalencephalic leukoencephalopathy with subcortical cystsMegalencephalic leukoencephalopathy with subcortical cysts 1Megalencephalic leukoencephalopathy with subcortical cysts 2AMegalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disabilityMegalencephalyMegalencephaly-capillary malformation-polymicrogyria syndromeMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndromeMegalencephaly-severe kyphoscoliosis-overgrowth syndromeMegaloblastic anemia, folate-responsiveMegaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafnessMEGF10-related myopathyMEGF8-related Carpenter syndromeMEHMO syndromeMeier-Gorlin syndromeMeier-Gorlin syndrome 1Meier-Gorlin syndrome 2Meier-Gorlin syndrome 3Meier-Gorlin syndrome 4Meier-Gorlin syndrome 5Meier-Gorlin syndrome 6Meier-Gorlin syndrome 7Meier-Gorlin syndrome 8Melanoma and neural system tumor syndromeMelanoma-pancreatic cancer syndromeMELAS syndromeMELAS syndrome caused by mutation in MTND1MELAS syndrome caused by mutation in MTND5MELAS syndrome caused by mutation in MTND6MELAS syndrome caused by mutation in MTTCMELAS syndrome caused by mutation in MTTHMELAS syndrome caused by mutation in MTTKMELAS syndrome caused by mutation in MTTL1MELAS syndrome caused by mutation in MTTQMELAS syndrome caused by mutation in MTTS1MELAS syndrome caused by mutation in MTTS2Melnick-Fraser syndromeMelnick-Needles syndromeMelorheostosisMelorheostosis with osteopoikilosisMEND syndromeMendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiencyMendelian susceptibility to mycobacterial diseases due to complete IL12B deficiencyMendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiencyMendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiencyMendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiencyMendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiencyMeningiomaMenke-Hennekam syndromeMenke-Hennekam syndrome 1Menke-Hennekam syndrome 2Menkes kinky-hair syndromeMenstrual cycle-dependent periodic feverMerosin deficient congenital muscular dystrophyMERRF syndromeMERTK-related retinopathyMesangiocapillary glomerulonephritis, type IIMesoaxial synostotic syndactyly with phalangeal reductionMesomelic dysplasia-digital anomalies-intellectual disability syndromeMesothelioma, malignantMetabolic myopathy due to lactate transporter defectMetachondromatosisMetachromatic leukodystrophyMetachromatic leukodystrophy, adult typeMetachromatic leukodystrophy, juvenile typeMetachromatic leukodystrophy, late infantile formMetageriaMetaphyseal anadysplasiaMetaphyseal anadysplasia 2Metaphyseal chondrodysplasia-retinitis pigmentosa syndromeMetaphyseal chondrodysplasia, Jansen typeMetaphyseal chondrodysplasia, McKusick typeMetaphyseal chondrodysplasia, Schmid typeMetaphyseal chondrodysplasia, Spahr typeMetaphyseal chondromatosis with D-2-hydroxyglutaric aciduriaMetaphyseal dysplasia without hypotrichosisMetaphyseal dysplasia-maxillary hypoplasia-brachydacty syndromeMetatropic dysplasiaMethemoglobinemia type 4Methemoglobinemia, alpha typeMethylcobalamin deficiency type cblDv1Methylcobalamin deficiency type cblEMethylcobalamin deficiency type cblGMethylcrotonyl-CoA carboxylase deficiencyMethylmalonate semialdehyde dehydrogenase deficiencyMethylmalonic acidemia due to methylmalonyl-CoA epimerase deficiencyMethylmalonic acidemia due to transcobalamin receptor defectMethylmalonic acidemia with homocystinuria, type cblJMethylmalonic acidemia with homocystinuria, type cblXMethylmalonic aciduria and homocystinuria type cblDMethylmalonic aciduria and homocystinuria type cblFMethylmalonic aciduria and homocystinuria, cb1L typeMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiencyMethylmalonic aciduria, cblA typeMethylmalonic aciduria, cblB typeMevalonic aciduriaMGAT2-congenital disorder of glycosylationMHC class I deficiencyMHC class I deficiency 1MHC class I deficiency 2MHC class I deficiency 3MHC class II deficiencyMHC class II deficiency 1MHC class II deficiency 2MHC class II deficiency 3MHC class II deficiency 4MHC class II deficiency 5Michelin-tire babyMicroangiopathy and leukoencephalopathy, pontine, autosomal dominantMicrocephalic osteodysplastic dysplasia, Saul-Wilson typeMicrocephalic osteodysplastic primordial dwarfism type IIMicrocephalic osteodysplastic primordial dwarfism types I and IIIMicrocephalic primordial dwarfism due to RTTN deficiencyMicrocephalic primordial dwarfism due to ZNF335 deficiencyMicrocephalic primordial dwarfism, Alazami typeMicrocephaly 1, primary, autosomal recessiveMicrocephaly 11, primary, autosomal recessiveMicrocephaly 12, primary, autosomal recessiveMicrocephaly 13, primary, autosomal recessiveMicrocephaly 14, primary, autosomal recessiveMicrocephaly 15, primary, autosomal recessiveMicrocephaly 16, primary, autosomal recessiveMicrocephaly 17, primary, autosomal recessiveMicrocephaly 18, primary, autosomal dominantMicrocephaly 19, primary, autosomal recessiveMicrocephaly 2, primary, autosomal recessive, with or without cortical malformationsMicrocephaly 20, primary, autosomal recessiveMicrocephaly 21, primary, autosomal recessiveMicrocephaly 22, primary, autosomal recessiveMicrocephaly 23, primary, autosomal recessiveMicrocephaly 24, primary, autosomal recessiveMicrocephaly 25, primary, autosomal recessiveMicrocephaly 26, primary, autosomal dominantMicrocephaly 27, primary, autosomal dominantMicrocephaly 28, primary, autosomal recessiveMicrocephaly 29, primary, autosomal recessiveMicrocephaly 3, primary, autosomal recessiveMicrocephaly 30, primary, autosomal recessiveMicrocephaly 4, primary, autosomal recessiveMicrocephaly 5, primary, autosomal recessiveMicrocephaly 6, primary, autosomal recessiveMicrocephaly 7, primary, autosomal recessiveMicrocephaly 8, primary, autosomal recessiveMicrocephaly 9, primary, autosomal recessiveMicrocephaly and chorioretinopathy 1Microcephaly and chorioretinopathy 2Microcephaly and chorioretinopathy 3Microcephaly with lissencephaly and/or hydranencephalyMicrocephaly with or without chorioretinopathy, lymphedema, or intellectual disabilityMicrocephaly-capillary malformation syndromeMicrocephaly-complex motor and sensory axonal neuropathy syndromeMicrocephaly-congenital cataract-psoriasiform dermatitis syndromeMicrocephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndromeMicrocephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeMicrocephaly-micromelia syndromeMicrocephaly-polymicrogyria-corpus callosum agenesis syndromeMicrocephaly-short stature-intellectual disability-facial dysmorphism syndromeMicrocephaly-thin corpus callosum-intellectual disability syndromeMicrocephaly, epilepsy, and diabetes syndrome 1Microcephaly, epilepsy, and diabetes syndrome 2Microcephaly, growth restriction, and increased sister chromatid exchange 2Microcephaly, normal intelligence and immunodeficiencyMicrocephaly, seizures, and developmental delayMicrocephaly, short stature, and impaired glucose metabolism 1Microcephaly, short stature, and impaired glucose metabolism 2Microcephaly, short stature, and limb abnormalitiesMicrocornea-myopic chorioretinal atrophyMicrocornea, rod-cone dystrophy, cataract, and posterior staphyloma 1Microcytic anemia with liver iron overloadMicroform holoprosencephalyMicrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeMicrophthalmia with brain and digit anomaliesMicrophthalmia with limb anomaliesMicrophthalmia, isolated, with colobomaMicrophthalmia, isolated, with coloboma 10Microphthalmia, isolated, with coloboma 3Microphthalmia, isolated, with coloboma 5Microphthalmia, isolated, with coloboma 6Microphthalmia, isolated, with coloboma 7Microphthalmia, isolated, with coloboma 9Microphthalmia, syndromic 1Microphthalmia, syndromic 11Microphthalmia, syndromic 12Microphthalmia/coloboma 11Microphthalmia/coloboma 13Microtia-AnotiaMidface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosisMigraine, familial hemiplegic, 1Migraine, familial hemiplegic, 2Migraine, familial hemiplegic, 3Mild Canavan diseaseMild hemophilia AMild hemophilia BMild hyperphenylalaninemiaMild phenylketonuriaMild phosphoribosylpyrophosphate synthetase superactivityMiller syndromeMinimal pigment oculocutaneous albinism type 1MIR140-related spondyloepiphyseal dysplasiaMIRAGE syndromeMirror movements 1Mirror movements 2Mirror movements 3Mirror movements 4Mismatch repair cancer syndrome 1Mismatch repair cancer syndrome 2Mismatch repair cancer syndrome 3Mismatch repair cancer syndrome 4Mitchell syndromeMitochondrial complex 1 deficiency, nuclear type 35Mitochondrial complex 2 deficiency, nuclear type 2Mitochondrial complex 2 deficiency, nuclear type 3Mitochondrial complex 2 deficiency, nuclear type 4Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6Mitochondrial complex I deficiencyMitochondrial complex I deficiency, mitochondrial type 1Mitochondrial complex I deficiency, nuclear type 1Mitochondrial complex I deficiency, nuclear type 10Mitochondrial complex I deficiency, nuclear type 11Mitochondrial complex I deficiency, nuclear type 12Mitochondrial complex I deficiency, nuclear type 13Mitochondrial complex I deficiency, nuclear type 14Mitochondrial complex I deficiency, nuclear type 15Mitochondrial complex I deficiency, nuclear type 16Mitochondrial complex I deficiency, nuclear type 17Mitochondrial complex I deficiency, nuclear type 18Mitochondrial complex I deficiency, nuclear type 19Mitochondrial complex I deficiency, nuclear type 2Mitochondrial complex I deficiency, nuclear type 21Mitochondrial complex I deficiency, nuclear type 22Mitochondrial complex I deficiency, nuclear type 23Mitochondrial complex I deficiency, nuclear type 24Mitochondrial complex I deficiency, nuclear type 25Mitochondrial complex I deficiency, nuclear type 26Mitochondrial complex I deficiency, nuclear type 27Mitochondrial complex I deficiency, nuclear type 28Mitochondrial complex I deficiency, nuclear type 29Mitochondrial complex I deficiency, nuclear type 3Mitochondrial complex I deficiency, nuclear type 30Mitochondrial complex I deficiency, nuclear type 31Mitochondrial complex I deficiency, nuclear type 32Mitochondrial complex I deficiency, nuclear type 33Mitochondrial complex I deficiency, nuclear type 34Mitochondrial complex I deficiency, nuclear type 36Mitochondrial complex I deficiency, nuclear type 37Mitochondrial complex I deficiency, nuclear type 39Mitochondrial complex I deficiency, nuclear type 4Mitochondrial complex I deficiency, nuclear type 5Mitochondrial complex I deficiency, nuclear type 6Mitochondrial complex I deficiency, nuclear type 7Mitochondrial complex I deficiency, nuclear type 8Mitochondrial complex I deficiency, nuclear type 9Mitochondrial complex II deficiency, nuclear type 1Mitochondrial complex III deficiencyMitochondrial complex III deficiency nuclear type 1Mitochondrial complex III deficiency nuclear type 2Mitochondrial complex III deficiency nuclear type 3Mitochondrial complex III deficiency nuclear type 4Mitochondrial complex III deficiency nuclear type 5Mitochondrial complex III deficiency nuclear type 6Mitochondrial complex III deficiency nuclear type 7Mitochondrial complex III deficiency nuclear type 8Mitochondrial complex III deficiency nuclear type 9Mitochondrial complex III deficiency, nuclear type 10Mitochondrial complex III deficiency, nuclear type 11Mitochondrial complex IV deficiency, nuclear type 1Mitochondrial complex IV deficiency, nuclear type 10Mitochondrial complex IV deficiency, nuclear type 11Mitochondrial complex IV deficiency, nuclear type 12Mitochondrial complex IV deficiency, nuclear type 14Mitochondrial complex IV deficiency, nuclear type 15Mitochondrial complex IV deficiency, nuclear type 16Mitochondrial complex IV deficiency, nuclear type 17Mitochondrial complex IV deficiency, nuclear type 18Mitochondrial complex IV deficiency, nuclear type 19Mitochondrial complex IV deficiency, nuclear type 20Mitochondrial complex IV deficiency, nuclear type 21Mitochondrial complex IV deficiency, nuclear type 22Mitochondrial complex IV deficiency, nuclear type 23Mitochondrial complex IV deficiency, nuclear type 3Mitochondrial complex IV deficiency, nuclear type 4Mitochondrial complex IV deficiency, nuclear type 7Mitochondrial complex IV deficiency, nuclear type 8Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4AMitochondrial complex V (ATP synthase) deficiency, nuclear type 4BMitochondrial complex V (ATP synthase) deficiency, nuclear type 5Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7Mitochondrial DNA deletion syndrome with progressive myopathyMitochondrial DNA depletion syndrome 1Mitochondrial DNA depletion syndrome 11Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominantMitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessiveMitochondrial DNA depletion syndrome 13Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)Mitochondrial DNA depletion syndrome 16 (hepatic type)Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)Mitochondrial DNA depletion syndrome 17Mitochondrial DNA depletion syndrome 18Mitochondrial DNA depletion syndrome 19Mitochondrial DNA depletion syndrome 20 (mngie type)Mitochondrial dna depletion syndrome 21Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)Mitochondrial DNA depletion syndrome 4bMitochondrial DNA depletion syndrome 6 (hepatocerebral type)Mitochondrial DNA depletion syndrome 8aMitochondrial DNA depletion syndrome 9Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduriaMitochondrial DNA depletion syndrome, hepatocerebrorenal formMitochondrial DNA depletion syndrome, myopathic formMitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiencyMitochondrial myopathy with diabetesMitochondrial myopathy with reversible cytochrome C oxidase deficiencyMitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndromeMitochondrial myopathy-lactic acidosis-deafness syndromeMitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathyMitochondrial neurogastrointestinal encephalomyopathyMitochondrial non-syndromic sensorineural hearing lossMitochondrial proton-transporting ATP synthase complex deficiencyMitochondrial pyruvate carrier deficiencyMitochondrial short-chain Enoyl-Coa hydratase 1 deficiencyMitochondrial trifunctional protein deficiencyMitochondrial trifunctional protein deficiency 1Mitochondrial trifunctional protein deficiency 2Mitral valve prolapse, myxomatous 2Mitral valve prolapse, myxomatous 3Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)Mixed phenotype acute leukemia with t(v;11q23.3)Miyoshi muscular dystrophy 1Miyoshi muscular dystrophy 3Miyoshi myopathyMKKS-related ciliopathyMKS1-related ciliopathyMME-related autosomal dominant Charcot Marie Tooth disease type 2Moderate multiminicore disease with hand involvementModerately severe hemophilia AModerately severe hemophilia BMOGS-congenital disorder of glycosylationMohr syndromeMonilethrixMonilethrix-1Monilethrix-2Monilethrix-3Monocytopenia with susceptibility to infectionsMonosomy 7 myelodysplasia and leukemia syndrome 1Monosomy 7 myelodysplasia and leukemia syndrome 2Monostotic fibrous dysplasiaMorimoto-Ryu-Malicdan neuromuscular syndromeMORM syndromeMosaic NF2-related schwannomatosisMosaic SMO syndromeMosaic variegated aneuploidy syndromeMosaic variegated aneuploidy syndrome 1Mosaic variegated aneuploidy syndrome 2Mosaic variegated aneuploidy syndrome 3Mosaic variegated aneuploidy syndrome 4Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predispositionMowat-Wilson syndromeMowat-Wilson syndrome due to a ZEB2 point mutationMoyamoya diseaseMoyamoya disease 2Moyamoya disease 5Moyamoya disease 7Moyamoya disease with early-onset achalasiaMPDU1-congenital disorder of glycosylationMPI-congenital disorder of glycosylationMRCS syndromeMTOR-related overgrowth spectrumMucolipidosis type IIMucolipidosis type IVMucopolysaccharidosis type 2, attenuated formMucopolysaccharidosis type 2, severe formMucopolysaccharidosis type 6Mucopolysaccharidosis type 6, rapidly progressingMucopolysaccharidosis type 6, slowly progressingMucopolysaccharidosis type 7Mucopolysaccharidosis-plus syndromeMucopolysaccharidosis, MPS-I-H/SMucopolysaccharidosis, MPS-I-SMucopolysaccharidosis, MPS-IIMucopolysaccharidosis, MPS-III-AMucopolysaccharidosis, MPS-III-BMucopolysaccharidosis, MPS-III-CMucopolysaccharidosis, MPS-III-DMucopolysaccharidosis, MPS-IV-AMucopolysaccharidosis, MPS-IV-BMucopolysaccharidosis, type 10Mucosa-associated lymphomaMuenke syndromeMuir-Torré syndromeMulibrey nanism syndromeMullerian aplasia and hyperandrogenismMulticentric carpo-tarsal osteolysis with or without nephropathyMulticentric osteolysis nodulosis arthropathy spectrumMulticentric osteolysis, nodulosis, and arthropathyMultifocal pattern dystrophy simulating fundus flavimaculatusMultinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndromeMultiple acyl-CoA dehydrogenase deficiencyMultiple acyl-CoA dehydrogenase deficiency, mild typeMultiple acyl-CoA dehydrogenase deficiency, severe neonatal typeMultiple benign circumferential skin creases on limbs 1Multiple congenital anomalies-hypotonia-seizures syndrome 1Multiple congenital anomalies-hypotonia-seizures syndrome 2Multiple congenital anomalies-hypotonia-seizures syndrome 3Multiple congenital exostosisMultiple cutaneous and mucosal venous malformationsMultiple endocrine neoplasia type 2AMultiple endocrine neoplasia type 2BMultiple endocrine neoplasia type 4Multiple endocrine neoplasia, type 1Multiple epiphyseal dysplasia due to collagen 9 anomalyMultiple epiphyseal dysplasia type 1Multiple epiphyseal dysplasia type 4Multiple epiphyseal dysplasia type 5Multiple epiphyseal dysplasia, Al-Gazali typeMultiple epiphyseal dysplasia, Beighton typeMultiple fibroadenoma of the breastMultiple mitochondrial dysfunctions syndrome 1Multiple mitochondrial dysfunctions syndrome 10Multiple mitochondrial dysfunctions syndrome 2Multiple mitochondrial dysfunctions syndrome 3Multiple mitochondrial dysfunctions syndrome 4Multiple mitochondrial dysfunctions syndrome 5Multiple mitochondrial dysfunctions syndrome 6Multiple mitochondrial dysfunctions syndrome 7Multiple mitochondrial dysfunctions syndrome 9bMultiple myelomaMultiple paragangliomas associated with polycythemiaMultiple self-healing squamous epitheliomaMultiple sulfatase deficiencyMultiple symmetric lipomatosisMultiple synostoses syndrome 2Multiple synostoses syndrome 3Multiple synostoses syndrome 4Multiple synostosis syndromeMultiple system atrophyMultisystemic smooth muscle dysfunction syndromeMuscle AMP deaminase deficiencyMuscle eye brain diseaseMuscle-eye-brain disease with bilateral multicystic leucodystrophyMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8Muscular dystrophy-dystroglycanopathy type B5Muscular dystrophy-dystroglycanopathy type B6Muscular dystrophy, congenital, with rapid progressionMuscular dystrophy, limb-girdle, autosomal dominant 4Muscular dystrophy, limb-girdle, autosomal recessive 23Muscular dystrophy, limb-girdle, autosomal recessive 26Muscular dystrophy, limb-girdle, autosomal recessive 27Muscular dystrophy, limb-girdle, autosomal recessive 28Muscular dystrophy, limb-girdle, autosomal recessive 29Mutilating keratodermaMyasthenic syndrome, congenital, 1B, fast-channelMyasthenic syndrome, congenital, 22Myasthenic syndrome, congenital, 23, presynapticMyasthenic syndrome, congenital, 24, presynapticMyasthenic syndrome, congenital, 25, presynapticMyasthenic syndrome, congenital, 7B, presynaptic, autosomal recessiveMYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndromeMycosis fungoidesMyelodysplastic syndromeMyelodysplastic syndrome associated with isolated del(5q)Myelodysplastic syndrome with excess blasts-1Myelodysplastic syndrome with excess blasts-2Myelodysplastic syndrome with ring sideroblastsMyeloperoxidase deficiencyMYH10-related neurodevelopmental disorder with congenital anomaliesMYH7-related skeletal myopathyMyhre syndromeMYO5B-related progressive familial intrahepatic cholestasisMyoclonic dystonia 11Myoclonic dystonia 26Myoclonic epilepsy of Lafora 1Myoclonic epilepsy of Lafora 2Myoclonus-dystonia syndromeMyoclonus, familialMyoclonus, familial, 1Myoclonus, familial, 2Myofibrillar myopathy 10Myofibrillar myopathy 11Myofibrillar myopathy 2Myofibrillar myopathy 3Myofibrillar myopathy 4Myofibrillar myopathy 5Myofibrillar myopathy 6Myofibrillar myopathy 7Myofibrillar myopathy 8Myofibromatosis, infantile, 1Myofibromatosis, infantile, 2Myoglobinuria, acute recurrent, autosomal recessiveMyopathic intestinal pseudoobstructionMyopathy caused by variation in CRPPAMyopathy caused by variation in FKRPMyopathy caused by variation in FKTNMyopathy caused by variation in GMPPBMyopathy caused by variation in POMGNT1Myopathy caused by variation in POMGNT2Myopathy caused by variation in POMT1Myopathy caused by variation in POMT2Myopathy due to calsequestrin and SERCA1 protein overloadMyopathy with abnormal lipid metabolismMyopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2Myopathy with tubular aggregatesMyopathy, centronuclear, 2Myopathy, centronuclear, 5Myopathy, centronuclear, 6, with fiber-type disproportionMyopathy, congenital proximal, with minicore lesionsMyopathy, congenital, progressive, with scoliosisMyopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic faciesMyopathy, congenital, with respiratory insufficiency and bone fracturesMyopathy, congenital, with structured cores and z-line abnormalitiesMyopathy, congenital, with tremorMyopathy, distal, 5Myopathy, distal, 6, adult-onset, autosomal dominantMyopathy, distal, 7, adult-onset, X-linkedMyopathy, distal, with rimmed vacuolesMyopathy, epilepsy, and progressive cerebral atrophyMyopathy, lactic acidosis, and sideroblastic anemiaMyopathy, lactic acidosis, and sideroblastic anemia 1Myopathy, lactic acidosis, and sideroblastic anemia 2Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathyMyopathy, myofibrillar, 13, with rimmed vacuolesMyopathy, myofibrillar, 9, with early respiratory failureMyopathy, myosin storage, autosomal recessiveMyopathy, proximal, and ophthalmoplegiaMyopathy, reducing body, X-linked, childhood-onsetMyopathy, reducing body, X-linked, early-onset, severeMyopathy, sarcoplasmic bodyMyopathy, tubular aggregate, 1Myopathy, tubular aggregate, 2Myopia 23, autosomal recessiveMyopia 6Myopia, high, with cataract and vitreoretinal degenerationMyosin storage myopathyMyotonia fluctuansMyotonia permanensMyotonic dystrophy type 2MYPN-related myopathyMYT1L-related developmental delay-intellectual disability-obesity syndromeNAA10-related syndromeNACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritabilityNAD(P)HX dehydratase deficiencyNaegeli-Franceschetti-Jadassohn syndromeNager syndromeNail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndromeNail-patella syndromeNail-patella-like renal diseaseNamaqualand hip dysplasiaNance-Horan syndromeNanophthalmiaNanophthalmos 1Nanophthalmos 2Nanophthalmos 4Narcolepsy 1Narcolepsy 7NARP syndromeNasopharyngeal carcinomaNaxos diseaseNDE1-related microhydranencephalyNebulin-related early-onset distal myopathyNEK9-related lethal skeletal dysplasiaNemaline myopathy 10Nemaline myopathy 2Nemaline myopathy 5Nemaline myopathy 5B, autosomal recessive, childhood-onsetNemaline myopathy 5C, autosomal dominantNemaline myopathy 6Nemaline myopathy 7Nemaline myopathy 8Nemaline myopathy 9Neonatal diabetes mellitus with congenital hypothyroidismNeonatal encephalomyopathy-cardiomyopathy-respiratory distress syndromeNeonatal glycine encephalopathyNeonatal ichthyosis-sclerosing cholangitis syndromeNeonatal inflammatory skin and bowel diseaseNeonatal intrahepatic cholestasis due to citrin deficiencyNeonatal Marfan syndromeNeonatal pseudo-hydrocephalic progeroid syndromeNeonatal severe primary hyperparathyroidismNeonatal-onset encephalopathy with rigidity and seizuresNeonatal-onset severe multisystemic autoinflammatory disease with increased IL18Nephrogenic diabetes insipidusNephrogenic syndrome of inappropriate antidiuresisNephronophthisis 1Nephronophthisis 11Nephronophthisis 12Nephronophthisis 13Nephronophthisis 14Nephronophthisis 15Nephronophthisis 16Nephronophthisis 18Nephronophthisis 19Nephronophthisis 20Nephronophthisis 3Nephronophthisis 4Nephronophthisis 7Nephronophthisis 9Nephronophthisis-like nephropathy 1Nephronophthisis-like nephropathy 2Nephropathic cystinosisNephrotic syndrome 14Nephrotic syndrome, type 10Nephrotic syndrome, type 11Nephrotic syndrome, type 12Nephrotic syndrome, type 13Nephrotic syndrome, type 17Nephrotic syndrome, type 18Nephrotic syndrome, type 19Nephrotic syndrome, type 2Nephrotic syndrome, type 20Nephrotic syndrome, type 22Nephrotic syndrome, type 23Nephrotic syndrome, type 24Nephrotic syndrome, type 3Nephrotic syndrome, type 4Nephrotic syndrome, type 6Nephrotic syndrome, type 8Nephrotic syndrome, type 9Nestor-Guillermo progeria syndromeNetherton syndromeNeu-Laxova syndrome 1Neu-Laxova syndrome 2Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiencyNeural tube defects, folate-sensitiveNeurocutaneous melanocytosisNeurodegeneration and seizures due to copper transport defectNeurodegeneration with ataxia and late-onset optic atrophyNeurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onsetNeurodegeneration with brain iron accumulation 2BNeurodegeneration with brain iron accumulation 4Neurodegeneration with brain iron accumulation 5Neurodegeneration with brain iron accumulation 6Neurodegeneration with brain iron accumulation 7Neurodegeneration with brain iron accumulation 8Neurodegeneration with brain iron accumulation 9Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalitiesNeurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizuresNeurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive declineNeurodegeneration, childhood-onset, with cerebellar ataxia and cognitive declineNeurodegeneration, childhood-onset, with cerebellar atrophyNeurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalitiesNeurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunctionNeurodegeneration, childhood-onset, with progressive microcephalyNeurodegeneration, early-onset, with choreoathetoid movements and microcytic anemiaNeurodegeneration, infantile-onset, biotin-responsiveNeurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairmentNeurodevelopmental disorder with alopecia and brain abnormalitiesNeurodevelopmental disorder with ataxia, hypotonia, and microcephalyNeurodevelopmental disorder with cerebral atrophy and variable facial dysmorphismNeurodevelopmental disorder with craniofacial dysmorphism and skeletal defectsNeurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasiaNeurodevelopmental disorder with dysmorphic facies and distal limb anomaliesNeurodevelopmental disorder with dysmorphic facies and distal skeletal anomaliesNeurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalitiesNeurodevelopmental disorder with dysmorphic facies and variable seizuresNeurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotoniaNeurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelinationNeurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomalyNeurodevelopmental disorder with hearing loss and spasticityNeurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizuresNeurodevelopmental disorder with hypotonia and characteristic brain abnormalitiesNeurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent languageNeurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesNeurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired languageNeurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxiaNeurodevelopmental disorder with involuntary movementsNeurodevelopmental disorder with language impairment and behavioral abnormalitiesNeurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorderNeurodevelopmental disorder with microcephaly and dysmorphic faciesNeurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomaliesNeurodevelopmental disorder with microcephaly, ataxia, and seizuresNeurodevelopmental disorder with microcephaly, epilepsy, and hypomyelinationNeurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomaliesNeurodevelopmental disorder with microcephaly, impaired language, and gait abnormalitiesNeurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalitiesNeurodevelopmental disorder with microcephaly, seizures, and brain atrophyNeurodevelopmental disorder with or without anomalies of the brain, eye, or heartNeurodevelopmental disorder with or without autism or seizuresNeurodevelopmental disorder with or without early-onset generalized epilepsyNeurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominantNeurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessiveNeurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomaliesNeurodevelopmental disorder with progressive spasticity and brain white matter abnormalitiesNeurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizuresNeurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomaliesNeurodevelopmental disorder with seizures and brain atrophyNeurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalitiesNeurodevelopmental disorder with severe motor impairment and absent languageNeurodevelopmental disorder with speech impairment and dysmorphic faciesNeurodevelopmental disorder with structural brain anomalies and dysmorphic faciesNeurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizuresNeurodevelopmental, jaw, eye, and digital syndromeNeuroectodermal melanolysosomal diseaseNeuroferritinopathyNeurofibromatosis type 1 due to NF1 mutation or intragenic deletionNeurofibromatosis-Noonan syndromeNeurofibromatosis, familial spinalNeurofibromatosis, type 1Neurofibromatosis, type 2Neurogenic scapuloperoneal syndrome, Kaeser typeNeurohypophyseal diabetes insipidusNeurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1Neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7)Neuromuscular disease caused by qualitative or quantitative defects of dysferlinNeuromuscular disease caused by qualitative or quantitative defects of perlecanNeuromuscular disease caused by qualitative or quantitative defects of plectinNeuromuscular disease caused by qualitative or quantitative defects of telethoninNeuromuscular disease caused by qualitative or quantitative defects of TRIM32Neuromuscular disorder, congenital, with dysmorphic faciesNeuronal ceroid lipofuscinosis 1Neuronal ceroid lipofuscinosis 10Neuronal ceroid lipofuscinosis 11Neuronal ceroid lipofuscinosis 13Neuronal ceroid lipofuscinosis 2Neuronal ceroid lipofuscinosis 3Neuronal ceroid lipofuscinosis 5Neuronal ceroid lipofuscinosis 7Neuronal ceroid lipofuscinosis 8Neuronal ceroid lipofuscinosis 8 northern epilepsy variantNeuronal intranuclear inclusion diseaseNeuronopathy, distal hereditary motor, autosomal dominant 10Neuronopathy, distal hereditary motor, autosomal dominant 11Neuronopathy, distal hereditary motor, autosomal dominant 15Neuronopathy, distal hereditary motor, autosomal dominant 8Neuronopathy, distal hereditary motor, autosomal recessive 10Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticityNeuronopathy, distal hereditary motor, autosomal recessive 4Neuronopathy, distal hereditary motor, autosomal recessive 5Neuronopathy, distal hereditary motor, autosomal recessive 7Neuronopathy, distal hereditary motor, autosomal recessive 8Neuronopathy, distal hereditary motor, autosomal recessive 9Neuronopathy, distal hereditary motor, type 2ANeuronopathy, distal hereditary motor, type 2BNeuronopathy, distal hereditary motor, type 2CNeuronopathy, distal hereditary motor, type 2DNeuronopathy, distal hereditary motor, type 5Neuronopathy, distal hereditary motor, type 5ANeuronopathy, distal hereditary motor, type 5BNeuronopathy, distal hereditary motor, type 5CNeuronopathy, distal hereditary motor, type 7ANeuronopathy, distal hereditary motor, type 7BNeuronopathy, distal hereditary motor, type 9Neuroocular syndrome 1Neurooculocardiogenitourinary syndromeNeuropathy with hearing impairmentNeuropathy, congenital hypomyelinating, 2Neuropathy, congenital hypomyelinating, 3Neuropathy, hereditary motor and sensory, type 6ANeuropathy, hereditary motor and sensory, type 6BNeuropathy, hereditary motor and sensory, type VIc, with optic atrophyNeuropathy, hereditary sensory and autonomic, type 1ANeuropathy, hereditary sensory and autonomic, type 1CNeuropathy, hereditary sensory and autonomic, type 2ANeuropathy, hereditary sensory and autonomic, type 2BNeuropathy, hereditary sensory, type 1DNeuropathy, hereditary sensory, type 1FNeuropathy, hereditary sensory, type 2CNeutral 1 amino acid transport defectNeutral lipid storage myopathyNeutropenia, severe congenital, 1, autosomal dominantNeutropenia, severe congenital, 10, autosomal recessiveNeutropenia, severe congenital, 11, autosomal dominantNeutropenia, severe congenital, 2, autosomal dominantNeutropenia, severe congenital, 8, autosomal dominantNeutropenia, severe congenital, 9, autosomal dominantNeutrophil immunodeficiency syndromeNevus comedonicus syndromeNewfoundland cone-rod dystrophyNFATC1-related combined immunodeficiencyNicolaides-Baraitser syndromeNiemann-Pick disease type C, adult neurologic onsetNiemann-Pick disease type C, juvenile neurologic onsetNiemann-Pick disease type C, late infantile neurologic onsetNiemann-Pick disease type C, severe early infantile neurologic onsetNiemann-Pick disease type C, severe perinatal formNiemann-Pick disease, type ANiemann-Pick disease, type BNiemann-Pick disease, type C1Niemann-Pick disease, type C2Night blindness, congenital stationary, type1iNijmegen breakage syndrome-like disorderNIK deficiencyNKX2.5-related congenital, conduction and myopathic heart diseaseNMNAT1-related retinopathyNodular urticaria pigmentosaNon-acquired combined pituitary hormone deficiency with spine abnormalitiesNon-classic congenital lipoid adrenal hyperplasia due to STAR deficencyNon-hereditary retinoblastomaNon-immune hydrops fetalisNon-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathyNon-severe combined immunodeficiency due to COPG1 deficiencyNon-syndromic non-specific multisutural craniosynostosisNon-syndromic X-linked intellectual disabilityNonimmune chronic idiopathic neutropenia of adultsNonpapillary renal cell carcinomaNonsyndromic congenital nail disorder 1Nonsyndromic congenital nail disorder 3Nonsyndromic congenital nail disorder 8Noonan syndromeNoonan syndrome 1Noonan syndrome 10Noonan syndrome 11Noonan syndrome 12Noonan syndrome 13Noonan syndrome 14Noonan syndrome 2Noonan syndrome 3Noonan syndrome 4Noonan syndrome 5Noonan syndrome 6Noonan syndrome 7Noonan syndrome 8Noonan syndrome 9Noonan syndrome with multiple lentiginesNoonan syndrome-like disorder with loose anagen hairNoonan syndrome-like disorder with loose anagen hair 1Noonan syndrome-like disorder with loose anagen hair 2Norman-Roberts syndromeNormophosphatemic familial tumoral calcinosisNorum diseaseNPHP3-related Meckel-like syndromeNR2F2 related multiple congenital anomalies/dysmorphic syndromeNRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbanceNTHL1-deficiency tumor predisposition syndromeNull syndromeNystagmus, congenital, autosomal recessiveNYX-related retinopathyObesity due to CEP19 deficiencyObesity due to congenital leptin deficiencyObesity due to leptin receptor gene deficiencyObesity due to melanocortin 4 receptor deficiencyObesity due to pro-opiomelanocortin deficiencyObesity due to prohormone convertase I deficiencyObesity due to SIM1 deficiencyOccipital encephaloceleOccipital pachygyria and polymicrogyriaOccult macular dystrophyOchoa syndromeOcular albinism, type IOcular cystinosisOculoauricular syndromeOculocerebrodental syndromeOculocerebrofacial syndrome, Kaufman typeOculocutaneous albinism type 1AOculocutaneous albinism type 1BOculocutaneous albinism type 3Oculocutaneous albinism type 4Oculocutaneous albinism type 6Oculocutaneous albinism type 7Oculocutaneous albinism type 8Oculodentodigital dysplasiaOculodentodigital dysplasia, autosomal recessiveOculofaciocardiodental syndromeOculogastrointestinal-neurodevelopmental syndromeOculootoradial syndromeOculopharyngeal muscular dystrophyOculopharyngeal muscular dystrophy 1Oculopharyngeal muscular dystrophy 2Oculopharyngodistal myopathyOculopharyngodistal myopathy 1Oculopharyngodistal myopathy 2Oculopharyngodistal myopathy 3Oculopharyngodistal myopathy 4Oculotrichoanal syndromeOdonto-onycho-dermal dysplasiaOdontochondrodysplasia 1Odontochondrodysplasia 2 with hearing loss and diabetesOdontohypophosphatasiaOdontoleukodystrophyOFD1-related ciliopathyOgden syndromeOguchi diseaseOguchi disease-1Oguchi disease-2Okihiro syndrome due to a point mutationOkur-Chung neurodevelopmental syndromeOligodontia-cancer predisposition syndromeOligosynaptic infertilityOlmsted syndromeOlmsted syndrome 1Olmsted syndrome 2Olmsted syndrome, X-linkedOocyte maturation defect 10Oocyte maturation defect 2Oocyte maturation defect 4Oocyte maturation defect 8Oocyte maturation defect 9OPA1-related optic atrophy with or without extraocular featuresOpitz G/BBB syndromeOpsismodysplasiaOptic atrophy 10 with or without ataxia, intellectual disability, and seizuresOptic atrophy 11Optic atrophy 12Optic atrophy 13 with retinal and foveal abnormalitiesOptic atrophy 14Optic atrophy 15Optic atrophy 16Optic atrophy 3Optic atrophy 5Optic atrophy 9Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathyOptic atrophy-ataxia-peripheral neuropathy-global developmental delay syndromeOral cavity squamous cell carcinomaOrnithine aminotransferase deficiencyOrnithine carbamoyltransferase deficiencyOrofacial cleft 10Orofacial cleft 11Orofacial cleft 15Orofacial cleft 5Orofacial cleft 8Orofacial clefting-cardiac anomalies-facial dysmorphism syndromeOrofacial-digital syndrome IVOrofaciodigital syndrome 16Orofaciodigital syndrome 17Orofaciodigital syndrome 18Orofaciodigital syndrome 19Orofaciodigital syndrome 20Orofaciodigital syndrome 21Orofaciodigital syndrome IOrofaciodigital syndrome IXOrofaciodigital syndrome type 14Orofaciodigital syndrome type 6Orofaciodigital syndrome VOrofaciodigital syndrome XVOromandibular-limb hypogenesis spectrumOropharyngeal squamous cell carcinomaOrthostatic hypotension 1Orthostatic hypotension 2OsteocraniostenosisOsteodysplastic primordial dwarfism, type 1Osteofibrous dysplasiaOsteogenesis imperfecta type 10Osteogenesis imperfecta type 11Osteogenesis imperfecta type 12Osteogenesis imperfecta type 13Osteogenesis imperfecta type 14Osteogenesis imperfecta type 15Osteogenesis imperfecta type 16Osteogenesis imperfecta type 17Osteogenesis imperfecta type 5Osteogenesis imperfecta type 6Osteogenesis imperfecta type 7Osteogenesis imperfecta type 8Osteogenesis imperfecta type 9Osteogenesis imperfecta type IOsteogenesis imperfecta type IIIOsteogenesis imperfecta with normal sclerae, dominant formOsteogenesis imperfecta, IIA 22Osteogenesis imperfecta, perinatal lethalOsteogenesis imperfecta, type 18Osteogenesis imperfecta, type 19Osteogenesis imperfecta, type 20Osteogenesis imperfecta, type 21Osteogenesis imperfecta, type 23Osteoglophonic dysplasiaOsteopathia striata with cranial sclerosisOsteopetrosis with renal tubular acidosisOsteopetrosis, autosomal dominant 3Osteopetrosis, autosomal recessive 9Osteoporosis with pseudogliomaOsteosclerosis-developmental delay-craniosynostosis syndromeOsteosclerotic metaphyseal dysplasiaOto-palato-digital syndrome, type IOto-palato-digital syndrome, type IIOtofaciocervical syndromeOtofaciocervical syndrome 1Otofaciocervical syndrome 2Otosclerosis 11Otosclerosis 12Otospondylomegaepiphyseal dysplasiaOtospondylomegaepiphyseal dysplasia, autosomal dominantOtospondylomegaepiphyseal dysplasia, autosomal recessiveOvarian adenocarcinomaOvarian dysgenesis 1Ovarian dysgenesis 10Ovarian dysgenesis 11Ovarian dysgenesis 2Ovarian dysgenesis 3Ovarian dysgenesis 5Ovarian dysgenesis 6Ovarian dysgenesis 7Ovarian dysgenesis 8Ovarian dysgenesis 9Ovarian hyperstimulation syndromeOvarian small cell carcinomaOverhydrated hereditary stomatocytosisOxoglutaricaciduriaP5CS deficiencyPachyonychia congenita 1Pachyonychia congenita 2Pachyonychia congenita 3Pachyonychia congenita 4Pachyonychia congenita syndromePaget disease of bone 2, early-onsetPaget disease of bone 3PAICS deficiencyPalatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromePALB2-related cancer predispositionPallister-Hall syndromePalmoplantar keratoderma i, striate, focal, or diffusePalmoplantar keratoderma-deafness syndromePalmoplantar keratoderma-esophageal carcinoma syndromePalmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndromePalmoplantar keratoderma, Bothnian typePalmoplantar keratoderma, epidermolytic, 2Palmoplantar keratoderma, Nagashima typePalmoplantar keratoderma, nonepidermolytic, focal 1Palmoplantar keratoderma, nonepidermolytic, focal or diffusePalmoplantar keratoderma, punctate type 1APalmoplantar pustulosisPancreatic agenesisPancreatic agenesis 1Pancreatic agenesis 2Pancreatic agenesis 3Pancreatic agenesis-holoprosencephaly syndromePancreatic hypoplasia-diabetes-congenital heart disease syndromePancreatic insufficiency-anemia-hyperostosis syndromePancreatic insulin-producing neuroendocrine tumorPancreatic triacylglycerol lipase deficiencyPancytopenia due to IKZF1 mutationsPancytopenia-developmental delay syndromePanhypopituitarismPanhypopituitarism, X-linkedPapillary renal cell carcinomaPapillon-Lefèvre syndromeParamyotonia congenita of Von EulenburgParanasal sinus squamous cell carcinomaParastremmatic dwarfismParathyroid carcinomaParietal foraminaParietal foramina 1Parietal foramina 2Parietal foramina with cleidocranial dysplasiaParkinson disease 17Parkinson disease 22, autosomal dominantParkinson disease, late-onsetParkinsonian-pyramidal syndromeParkinsonism due to ATP13A2 deficiencyParkinsonism with polyneuropathyParkinsonism-dystonia 3, childhood-onsetParkinsonism-dystonia, infantileParoxysmal extreme pain disorderParoxysmal familial ventricular fibrillationParoxysmal nocturnal hemoglobinuriaParoxysmal nocturnal hemoglobinuria 1Paroxysmal nocturnal hemoglobinuria 2Paroxysmal nonkinesigenic dyskinesiaParoxysmal nonkinesigenic dyskinesia 1Partial androgen insensitivity syndromePartial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndromePartial hydatidiform molePartial hypoxanthine-guanine phosphoribosyltransferase deficiencyPartial lipodystrophy, congenital cataracts, and neurodegeneration syndromePartington syndromePatent ductus arteriosus 2Patent ductus arteriosus 3Patterned macular dystrophy 1Patterned macular dystrophy 2Patterned macular dystrophy 3PAX5-related B lymphopenia and autism spectrum disorderPAX6-related ocular dysgenesisPCWH syndromePDE6A-related retinopathyPDE6C-related retinopathyPDE6G-related retinopathyPediatric hepatocellular carcinomaPediatric systemic lupus erythematosusPeeling skin syndrome 1Peeling skin syndrome 4Peeling skin syndrome 5Peeling skin syndrome 6Peeling skin syndrome type APeeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndromePEHO syndromePEHO-like syndromePelger-Huët anomalyPelizaeus Merzbacher like diseasePelizaeus-Merzbacher diseasePelizaeus-Merzbacher disease in female carriersPelizaeus-Merzbacher disease, classic formPelizaeus-Merzbacher disease, connatal formPelizaeus-Merzbacher disease, transitional formPelviscapular dysplasiaPendred syndromePERCHING syndromePerinatal lethal hypophosphatasiaPeriodic fever-infantile enterocolitis-autoinflammatory syndromePeriodic paralysis with later-onset distal motor neuropathyPeriodontitis, aggressive 1Peripheral motor neuropathy, childhood-onset, biotin-responsivePeripheral neuropathy-myopathy-hoarseness-hearing loss syndromePeriventricular heterotopia with microcephaly, autosomal recessivePeriventricular nodular heterotopiaPeriventricular nodular heterotopia 6Periventricular nodular heterotopia 7Periventricular nodular heterotopia 8Periventricular nodular heterotopia 9Perlman syndromePermanent neonatal diabetes mellitusPermanent neonatal diabetes mellitus 1Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndromePeroxisome biogenesis disorder 10A (Zellweger)Peroxisome biogenesis disorder 10BPeroxisome biogenesis disorder 11A (Zellweger)Peroxisome biogenesis disorder 11BPeroxisome biogenesis disorder 12A (Zellweger)Peroxisome biogenesis disorder 13A (Zellweger)Peroxisome biogenesis disorder 14BPeroxisome biogenesis disorder 1A (Zellweger)Peroxisome biogenesis disorder 1BPeroxisome biogenesis disorder 2A (Zellweger)Peroxisome biogenesis disorder 2BPeroxisome biogenesis disorder 3A (Zellweger)Peroxisome biogenesis disorder 4A (Zellweger)Peroxisome biogenesis disorder 4BPeroxisome biogenesis disorder 5A (Zellweger)Peroxisome biogenesis disorder 5BPeroxisome biogenesis disorder 6A (Zellweger)Peroxisome biogenesis disorder 6BPeroxisome biogenesis disorder 7A (Zellweger)Peroxisome biogenesis disorder 7BPeroxisome biogenesis disorder 8A (Zellweger)Peroxisome biogenesis disorder 8BPeroxisome biogenesis disorder 9BPeroxisome biogenesis disorder due to PEX1 defectPeroxisome biogenesis disorder due to PEX10 defectPeroxisome biogenesis disorder due to PEX11B defectPeroxisome biogenesis disorder due to PEX12 defectPeroxisome biogenesis disorder due to PEX13 defectPeroxisome biogenesis disorder due to PEX14 defectPeroxisome biogenesis disorder due to PEX16 defectPeroxisome biogenesis disorder due to PEX19 defectPeroxisome biogenesis disorder due to PEX2 defectPeroxisome biogenesis disorder due to PEX26 defectPeroxisome biogenesis disorder due to PEX3 defectPeroxisome biogenesis disorder due to PEX5 defectPeroxisome biogenesis disorder due to PEX6 defectPeroxisome biogenesis disorder due to PEX7 defectPeroxisome biogenesis disorder type 3BPerrault syndrome 1Perrault syndrome 2Perrault syndrome 3Perrault syndrome 4Perrault syndrome 5Perrault syndrome 6Perrault syndrome 7Perry syndromePersistent hyperplastic primary vitreousPersistent hyperplastic primary vitreous, autosomal recessivePersistent Mullerian duct syndromePersistent truncus arteriosusPeters plus syndromePettigrew syndromePeutz-Jeghers syndromePfeiffer syndromePfeiffer syndrome type 1Pfeiffer syndrome type 2Pfeiffer syndrome type 3PGM1-congenital disorder of glycosylationPhakomatosis cesioflammeaPhakomatosis cesiomarmorataPhakomatosis pigmentokeratoticaPHARC syndromePhelan-McDermid syndromePhelan-McDermid syndrome due to SHANK3 mutationPhenylketonuriaPheochromocytomaPHGDH deficiencyPHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndromePhosphoenolpyruvate carboxykinase (GTP) deficiencyPhosphoenolpyruvate carboxykinase deficiency, cytosolicPhosphoenolpyruvate carboxykinase deficiency, mitochondrialPhosphoribosylpyrophosphate synthetase superactivityPhytanic acid storage diseasePhytanoyl-CoA hydroxylase deficiencyPick diseasePiebaldismPierpont syndromePierson syndromePigmentary pallidal degenerationPigmentary retinal dystrophyPigmentation defects-palmoplantar keratoderma-skin carcinoma syndromePigmented nodular adrenocortical disease, primary, 1Pigmented nodular adrenocortical disease, primary, 2Pigmented nodular adrenocortical disease, primary, 3Pigmented nodular adrenocortical disease, primary, 4Pigmented paravenous retinochoroidal atrophyPilarowski-Bjornsson syndromePili torti-deafness syndromePili torti-developmental delay-neurological abnormalities syndromePilomatrixomaPilomyxoid astrocytomaPitt-Hopkins syndromePitt-Hopkins-like syndrome 2Pituitary adenoma 3, multiple typesPituitary adenoma 5, multiple typesPituitary adenoma, growth hormone-secreting, 2Pituitary dependent hypercortisolismPituitary hormone deficiency, combined or isolated, 8Pituitary hormone deficiency, combined, 1Pituitary hormone deficiency, combined, 2Pituitary hormone deficiency, combined, 6Pituitary stalk interruption syndromePityriasis rubra pilarisPLA2G6-associated neurodegenerationPlaque-form urticaria pigmentosaPlasminogen deficiency, type IPlasminogen deficiency, type IIPlatelet-type bleeding disorder 10Platelet-type bleeding disorder 11Platelet-type bleeding disorder 15Platelet-type bleeding disorder 16Platelet-type bleeding disorder 17Platelet-type bleeding disorder 18Platelet-type bleeding disorder 19Platelet-type bleeding disorder 20Platelet-type bleeding disorder 8Platyspondylic dysplasia, Torrance typePleomorphic adenoma of salivary glandPleomorphic rhabdomyosarcomaPleuropulmonary blastomaPLG-related hereditary angioedema with normal C1inhPLIN1-related familial partial lipodystrophyPMM2-congenital disorder of glycosylationPoikiloderma with neutropeniaPoirier-Bienvenu neurodevelopmental syndromePOLD2-related combined immunodeficiencyPOLD3-related combined immunodeficiencyPolycystic kidney disease 2Polycystic kidney disease 3 with or without polycystic liver diseasePolycystic kidney disease 4Polycystic kidney disease 5Polycystic kidney disease 6 with or without polycystic liver diseasePolycystic kidney disease 7Polycystic kidney disease 8Polycystic kidney disease, adult typePolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalyPolycystic liver disease 1Polycystic liver disease 2Polycystic liver disease 3 with or without kidney cystsPolycystic liver disease 4 with or without kidney cystsPolydactyly of a biphalangeal thumbPolydactyly of a triphalangeal thumbPolydactyly, postaxial, type A1Polydactyly, postaxial, type a10Polydactyly, postaxial, type A6Polydactyly, postaxial, type a7Polydactyly, postaxial, type A8Polydactyly, postaxial, type A9Polyendocrine-polyneuropathy syndromePolyglandular autoimmune syndrome, type 1Polyglucosan body myopathy type 1Polyglucosan body myopathy type 2Polyhydramnios, megalencephaly, and symptomatic epilepsyPolymerase proofreading-related adenomatous polyposisPolymicrogyria with optic nerve hypoplasiaPolymicrogyria with or without vascular-type Ehlers-Danlos syndromePolymicrogyria, bilateral perisylvian, autosomal recessivePolymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposisPolyostotic fibrous dysplasia of bonePolyposis syndrome, hereditary mixed, 2Polyps, multiple and recurrent inflammatory fibroid, gastrointestinalPolysyndactyly 4Pontocerebellar hypoplasia type 10Pontocerebellar hypoplasia type 1APontocerebellar hypoplasia type 1BPontocerebellar hypoplasia type 2Pontocerebellar hypoplasia type 2APontocerebellar hypoplasia type 2BPontocerebellar hypoplasia type 2CPontocerebellar hypoplasia type 2DPontocerebellar hypoplasia type 2EPontocerebellar hypoplasia type 3Pontocerebellar hypoplasia type 4Pontocerebellar hypoplasia type 5Pontocerebellar hypoplasia type 6Pontocerebellar hypoplasia type 7Pontocerebellar hypoplasia type 8Pontocerebellar hypoplasia type 9Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethalPontocerebellar hypoplasia, IIA 17Pontocerebellar hypoplasia, type 11Pontocerebellar hypoplasia, type 12Pontocerebellar hypoplasia, type 13Pontocerebellar hypoplasia, type 14Pontocerebellar hypoplasia, type 15Pontocerebellar hypoplasia, type 16Pontocerebellar hypoplasia, type 1CPontocerebellar hypoplasia, type 1DPontocerebellar hypoplasia, type 1EPontocerebellar hypoplasia, type 1FPontocerebellar hypoplasia, type 2FPorencephaly 2Porencephaly-microcephaly-bilateral congenital cataract syndromePorokeratosis 1, Mibelli typePorokeratosis 3, disseminated superficial actinic typePorokeratosis 7, multiple typesPorokeratosis 8, disseminated superficial actinic typePorokeratosis 9, multiple typesPorokeratosis of MibelliPorokeratotic eccrine ostial and dermal duct nevusPorphobilinogen synthase deficiencyPostaxial polydactyly type APostaxial polydactyly type BPostaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromePosterior column ataxia-retinitis pigmentosa syndromePosterior hypospadiasPosterior polymorphous corneal dystrophyPosterior polymorphous corneal dystrophy 1Posterior polymorphous corneal dystrophy 2Posterior polymorphous corneal dystrophy 3Posterior subcapsular cataractPostsynaptic congenital myasthenic syndromePostural orthostatic tachycardia syndromePotassium-aggravated myotoniaPPARG-related familial partial lipodystrophyPrader-Willi syndromePrecocious puberty, central, 2Precursor T-cell acute lymphoblastic leukemiaPredisposition to invasive fungal disease due to CARD9 deficiencyPreeclampsia/eclampsia 1Preeclampsia/eclampsia 4Preeclampsia/eclampsia 5Premature ovarian failure 1Premature ovarian failure 10Premature ovarian failure 11Premature ovarian failure 12Premature ovarian failure 13Premature ovarian failure 14Premature ovarian failure 15Premature ovarian failure 16Premature ovarian failure 17Premature ovarian failure 18Premature ovarian failure 19Premature ovarian failure 20Premature ovarian failure 21Premature ovarian failure 22Premature ovarian failure 23Premature ovarian failure 24Premature ovarian failure 25Premature ovarian failure 26Premature ovarian failure 2APremature ovarian failure 2BPremature ovarian failure 3Premature ovarian failure 5Premature ovarian failure 6Premature ovarian failure 7Premature ovarian failure 8Premature ovarian failure 9Prenatal-onset spinal muscular atrophy with congenital bone fracturesPretibial dystrophic epidermolysis bullosaPrieto syndromePrimary CD59 deficiencyPrimary ciliary dyskinesiaPrimary ciliary dyskinesia 10Primary ciliary dyskinesia 11Primary ciliary dyskinesia 12Primary ciliary dyskinesia 13Primary ciliary dyskinesia 14Primary ciliary dyskinesia 15Primary ciliary dyskinesia 16Primary ciliary dyskinesia 17Primary ciliary dyskinesia 18Primary ciliary dyskinesia 19Primary ciliary dyskinesia 2Primary ciliary dyskinesia 20Primary ciliary dyskinesia 21Primary ciliary dyskinesia 22Primary ciliary dyskinesia 23Primary ciliary dyskinesia 24Primary ciliary dyskinesia 25Primary ciliary dyskinesia 26Primary ciliary dyskinesia 27Primary ciliary dyskinesia 28Primary ciliary dyskinesia 29Primary ciliary dyskinesia 3Primary ciliary dyskinesia 30Primary ciliary dyskinesia 32Primary ciliary dyskinesia 33Primary ciliary dyskinesia 34Primary ciliary dyskinesia 35Primary ciliary dyskinesia 5Primary ciliary dyskinesia 6Primary ciliary dyskinesia 7Primary ciliary dyskinesia 9Primary coenzyme Q10 deficiency 8Primary erythromelalgiaPrimary failure of tooth eruptionPrimary familial polycythemia due to EPO receptor mutationPrimary Fanconi syndromePrimary hyperoxaluria type 3Primary hyperoxaluria, type IPrimary hyperoxaluria, type IIPrimary hypomagnesemiaPrimary hypomagnesemia-generalized seizures-intellectual disability-obesity syndromePrimary immunodeficiency syndrome due to p14 deficiencyPrimary immunodeficiency with natural-killer cell deficiency and adrenal insufficiencyPrimary immunodeficiency with post-measles-mumps-rubella vaccine viral infectionPrimary intraosseous venous malformationPrimary lateral sclerosisPrimary mediastinal large B-cell lymphomaPrimary microcephaly-mild intellectual disability-young-onset diabetes syndromePrimary myelofibrosisPrimary open angle glaucomaPrimary progressive non fluent aphasiaPrimary sclerosing cholangitisPrimrose syndromePRKAG2-related cardiomyopathyPRKAR1B-related neurodegenerative dementia with intermediate filamentsProgeroid and marfanoid aspect-lipodystrophy syndromeProgeroid features-hepatocellular carcinoma predisposition syndromeProgressive cavitating leukoencephalopathyProgressive dementia with neuroserpin inclusion bodiesProgressive demyelinating neuropathy with bilateral striatal necrosisProgressive encephalopathy with leukodystrophy due to DECR deficiencyProgressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndromeProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6Progressive familial heart blockProgressive familial heart block type IBProgressive familial heart block, type 1AProgressive familial intrahepatic cholestasis type 1Progressive familial intrahepatic cholestasis type 2Progressive familial intrahepatic cholestasis type 3Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSNProgressive microcephaly-seizures-cortical blindness-developmental delay syndromeProgressive myoclonic epilepsy type 3Progressive myoclonic epilepsy type 6Progressive myoclonic epilepsy type 7Progressive myoclonic epilepsy type 8Progressive myoclonic epilepsy type 9Progressive myoclonic epilepsy with dystoniaProgressive myositis ossificansProgressive osseous heteroplasiaProgressive pseudorheumatoid dysplasiaProgressive retinal dystrophy due to retinol transport defectProgressive scapulohumeroperoneal distal myopathyProgressive sclerosing poliodystrophyProgressive sensorineural hearing loss-hypertrophic cardiomyopathy syndromeProgressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeProgressive supranuclear palsy-parkinsonism syndromeProlactin-producing pituitary gland adenomaProlidase deficiencyProline dehydrogenase deficiencyProlonged electroretinal response suppression 1Prolonged electroretinal response suppression 2PROM1-related retinopathyProperdin deficiency, X-linkedPropionic acidemiaProstate cancer, hereditary, 1Prostate cancer, hereditary, 12Prostate cancer, hereditary, 13Prostate cancer, hereditary, 2Prostate cancer, hereditary, 9Proteasome-associated autoinflammatory syndrome 1Proteasome-associated autoinflammatory syndrome 2Proteasome-associated autoinflammatory syndrome 3Proteasome-associated autoinflammatory syndrome 4Proteasome-associated autoinflammatory syndrome 5Proteasome-associated autoinflammatory syndrome 6Protein-losing enteropathyProteinuria, low molecular weight, with hypercalciuria and nephrocalcinosisProteosome-associated autoinflammatory syndromeProteus-like syndromeProtoporphyria, erythropoietic, 1Protoporphyria, erythropoietic, 2Proximal myopathy with extrapyramidal signsProximal myopathy with focal depletion of mitochondriaProximal symphalangismProximal symphalangism 1APrP systemic amyloidosisPRPF31-related retinopathyPRPF8-related retinopathyPRPH2-related retinopathyPRPS1 deficiency disorderPrune belly syndromePSAP-related sphingolipidosisPSAT deficiencyPseudo von Willebrand diseasePseudo-Hurler polydystrophyPseudo-TORCH syndromePseudo-TORCH syndrome 1Pseudo-TORCH syndrome 2Pseudo-TORCH syndrome 3Pseudoachondroplastic spondyloepiphyseal dysplasia syndromePseudohyperaldosteronism type 2Pseudohypoaldosteronism type 2BPseudohypoaldosteronism type 2CPseudohypoaldosteronism type 2DPseudohypoaldosteronism type 2EPseudohypoaldosteronism, type IB1, autosomal recessivePseudohypoaldosteronism, type IB2, autosomal recessivePseudohypoaldosteronism, type IB3, autosomal recessivePseudohypoparathyroidism type 1BPseudohypoparathyroidism type 1CPseudohypoparathyroidism type I APseudopseudohypoparathyroidismPseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosaPseudoxanthoma elasticum, forme frustePseudoxanthomatous diffuse cutaneous mastocytosisPsychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndromePterin-4 alpha-carbinolamine dehydratase 1 deficiencyPtosis, hereditary congenital, 1PULMONARY ALVEOLAR MICROLITHIASISPulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6Pulmonary hypertension, primary, 1Pulmonary hypertension, primary, 2Pulmonary hypertension, primary, 3Pulmonary hypertension, primary, 4Pulmonary hypertension, primary, 6Pulmonary hypertension, primary, autosomal recessivePulmonary venoocclusive diseasePulmonary venoocclusive disease 1Pulverulent cataractPUM1-associated developmental disability-ataxia-seizure syndromePunctate palmoplantar keratoderma type 1PURA-related severe neonatal hypotonia-seizures-encephalopathy syndromePURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutationPure gonadal dysgenesis 46,XYPure hair and nail ectodermal dysplasiaPurine-nucleoside phosphorylase deficiencyPustular pyoderma gangrenosumPYCR1-related de Barsy syndromePyknodysostosisPyle metaphyseal dysplasiaPyoderma gangrenosum-acne-suppurative hidradenitis syndromePyogenic arthritis-pyoderma gangrenosum-acne syndromePyogenic bacterial infections due to MyD88 deficiencyPyridoxal phosphate-responsive seizuresPyridoxine-dependent epilepsyPyridoxine-dependent epilepsy caused by ALDH7A1 mutantPyropoikilocytosis, hereditaryPyruvate carboxylase deficiencyPyruvate carboxylase deficiency, benign typePyruvate carboxylase deficiency, infantile formPyruvate carboxylase deficiency, severe neonatal typePyruvate dehydrogenase E1-alpha deficiencyPyruvate dehydrogenase E1-beta deficiencyPyruvate dehydrogenase E2 deficiencyPyruvate dehydrogenase E3 deficiencyPyruvate dehydrogenase E3-binding protein deficiencyPyruvate dehydrogenase phosphatase deficiencyPyruvate kinase deficiency of red cellsPyruvate kinase hyperactivityQualitative or quantitative defects of alpha-sarcoglycanQualitative or quantitative defects of beta-sarcoglycanQualitative or quantitative defects of delta-sarcoglycanQualitative or quantitative defects of desminQualitative or quantitative defects of gamma-sarcoglycanQuebec platelet disorderQuestion mark ears, isolatedRAB23-related Carpenter syndromeRAB28-related retinopathyRabson-Mendenhall syndromeRAD51C-related cancer predispositionRAD51D-related cancer predispositionRadial aplasia-thrombocytopenia syndromeRadial hemimeliaRadio-Tartaglia syndromeRadio-ulnar synostosis-amegakaryocytic thrombocytopenia syndromeRadioulnar synostosis with amegakaryocytic thrombocytopenia 1Radioulnar synostosis with amegakaryocytic thrombocytopenia 2Rafiq syndromeRahman syndromeRajab interstitial lung disease with brain calcifications 1Rajab interstitial lung disease with brain calcifications 2Ramon syndromeRapadilino syndromeRapp-Hodgkin syndromeRauch-Steindl syndromeRavine syndromeRCBTB1-related retinopathyRD3-related retinopathyRDH12-related dominant retinopathyRDH12-related recessive retinopathyRDH5-related retinopathyRecessive dystrophic epidermolysis bullosaRecessive dystrophic epidermolysis bullosa inversaRecessive dystrophic epidermolysis bullosa-generalized otherRecessive intellectual disability-motor dysfunction-multiple joint contractures syndromeRecessive mitochondrial ataxia syndromeRECON progeroid syndromeRecurrent infections associated with rare immunoglobulin isotypes deficiencyRecurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeRecurrent Neisseria infections due to factor D deficiencyReducing body myopathyREEP6-related retinopathyRefractory cytopenia with unilineage dysplasiaRegressive spondylometaphyseal dysplasiaReis-Bucklers' corneal dystrophyRenal carnitine transport defectRenal cell carcinoma, Xp11-associatedRenal coloboma syndromeRenal cysts and diabetes syndromeRenal dysplasia and retinal aplasiaRenal hypodysplasia/aplasia 1Renal hypodysplasia/aplasia 2Renal hypodysplasia/aplasia 3Renal hypodysplasia/aplasia 4Renal hypomagnesemia 2Renal hypomagnesemia 4Renal hypomagnesemia 5 with ocular involvementRenal hypomagnesemia 6Renal tubular acidosis with progressive nerve deafnessRenal tubular acidosis, distal, 3, with or without sensorineural hearing lossRenal tubular acidosis, distal, 4, with hemolytic anemiaRenal tubular dysgenesis - ACERenal tubular dysgenesis of genetic originRenal tubulopathy-encephalopathy-liver failure syndromeRenal-hepatic-pancreatic dysplasiaRenal-hepatic-pancreatic dysplasia 1Renal-hepatic-pancreatic dysplasia 2Renpenning syndromeResistance to thyroid hormone due to a mutation in thyroid hormone receptor alphaRestrictive dermopathy 1Restrictive dermopathy 2Reticular dysgenesisReticular dysgenesis-like severe combined immunodeficiencyReticular dystrophy of the retinal pigment epitheliumReticulate acropigmentation of KitamuraRetinal arterial tortuosityRetinal cone dystrophy 3ARetinal cone dystrophy 4Retinal dystrophy and obesityRetinal dystrophy with inner retinal dysfunction and ganglion cell anomaliesRetinal dystrophy with or without macular staphylomaRetinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndromeRetinal macular dystrophy type 2Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestationsRetinitis pigmentosaRetinitis pigmentosa 1Retinitis pigmentosa 10Retinitis pigmentosa 11Retinitis pigmentosa 12Retinitis pigmentosa 13Retinitis pigmentosa 14Retinitis pigmentosa 18Retinitis pigmentosa 19Retinitis pigmentosa 2Retinitis pigmentosa 20Retinitis pigmentosa 23Retinitis pigmentosa 25Retinitis pigmentosa 26Retinitis pigmentosa 27Retinitis pigmentosa 28Retinitis pigmentosa 3Retinitis pigmentosa 30Retinitis pigmentosa 31Retinitis pigmentosa 32Retinitis pigmentosa 33Retinitis pigmentosa 35Retinitis pigmentosa 36Retinitis pigmentosa 37Retinitis pigmentosa 38Retinitis pigmentosa 39Retinitis pigmentosa 4Retinitis pigmentosa 40Retinitis pigmentosa 41Retinitis pigmentosa 42Retinitis pigmentosa 43Retinitis pigmentosa 44Retinitis pigmentosa 45Retinitis pigmentosa 46Retinitis pigmentosa 47Retinitis pigmentosa 48Retinitis pigmentosa 49Retinitis pigmentosa 50Retinitis pigmentosa 51Retinitis pigmentosa 54Retinitis pigmentosa 55Retinitis pigmentosa 56Retinitis pigmentosa 57Retinitis pigmentosa 58Retinitis pigmentosa 59Retinitis pigmentosa 60Retinitis pigmentosa 61Retinitis pigmentosa 62Retinitis pigmentosa 66Retinitis pigmentosa 67Retinitis pigmentosa 68Retinitis pigmentosa 69Retinitis pigmentosa 7Retinitis pigmentosa 7, digenicRetinitis pigmentosa 70Retinitis pigmentosa 71Retinitis pigmentosa 72Retinitis pigmentosa 73Retinitis pigmentosa 74Retinitis pigmentosa 75Retinitis pigmentosa 76Retinitis pigmentosa 77Retinitis pigmentosa 78Retinitis pigmentosa 79Retinitis pigmentosa 80Retinitis pigmentosa 81Retinitis pigmentosa 83Retinitis pigmentosa 84Retinitis pigmentosa 85Retinitis pigmentosa 86Retinitis pigmentosa 87 with choroidal involvementRetinitis pigmentosa 88Retinitis pigmentosa 9Retinitis pigmentosa 90Retinitis pigmentosa 92Retinitis pigmentosa 93Retinitis pigmentosa 95Retinitis pigmentosa 96Retinitis pigmentosa 97Retinitis pigmentosa 98Retinitis pigmentosa with or without situs inversusRetinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndromeRetinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndromeRetinitis punctata albescensRetinoblastomaRett syndromeRevesz syndromeReynolds syndromeRFT1-congenital disorder of glycosylationRh deficiency syndromeRhabdoid tumor predisposition syndromeRhabdoid tumor predisposition syndrome 1Rhabdoid tumor predisposition syndrome 2Rhabdomyosarcoma, embryonal, 2Rhizomelic chondrodysplasia punctata type 1Rhizomelic chondrodysplasia punctata type 2Rhizomelic chondrodysplasia punctata type 3Rhizomelic chondrodysplasia punctata type 5Rhizomelic dysplasia, Ain-Naz typeRHYNS syndromeRichieri Costa-Pereira syndromeRIDDLE syndromeRieger anomalyRienhoff syndromeRight atrial isomerismRigid spine syndromeRIN2 syndromeRing dermoid of corneaRippling muscle disease 2Ritscher-Schinzel syndromeRitscher-Schinzel syndrome 1Ritscher-Schinzel syndrome 2Ritscher-Schinzel syndrome 3Ritscher-Schinzel syndrome 4RLBP1-related retinopathyRNASEH2A-related type 1 interferonopathyRNASEH2B-related type 1 interferonopathyRNASEH2C-related type 1 interferonopathyRNU4ATAC spectrum disorderRNU7-1-related type 1 interferonopathyRoberts-SC phocomelia syndromeRobinow syndrome, autosomal recessive 2Robinow-Sorauf syndromeRoifman syndromeRolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndromeRolandic epilepsy-speech dyspraxia syndromeRolandic epilepsy, intellectual disability, and speech dyspraxia, X-linkedRothmund-Thomson syndrome type 1Rothmund-Thomson syndrome type 2Rotor syndromeRoussy-Lévy syndromeRP1-related dominant retinopathyRP1-related recessive retinopathyRP2-related retinopathyRPE65-related dominant retinopathyRPE65-related recessive retinopathyRPGR-related retinopathyRubinstein-Taybi syndrome due to CREBBP mutationsRubinstein-Taybi syndrome due to EP300 haploinsufficiencyRYR1-related myopathySaccharopinuriaSacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndromeSaethre-Chotzen syndromeSaldino-Mainzer syndromeSalla diseaseSAMD9L-associated autoinflammatory syndromeSAMHD1-related type 1 interferonopathySandhoff diseaseSandhoff disease, adult formSandhoff disease, infantile formSandhoff disease, juvenile formSarcoidosisSarcosine dehydrogenase deficiencySarcotubular myopathySATB2 associated disorderSBDS-related severe neonatal spondylometaphyseal dysplasiaScalp-ear-nipple syndromeScapuloperoneal spinal muscular atrophySchaaf-Yang syndromeSchimke immuno-osseous dysplasiaSchinzel phocomelia syndromeSchinzel-Giedion syndromeSchizencephalySchneckenbecken dysplasiaSchnyder crystalline corneal dystrophySchöpf-Schulz-Passarge syndromeSchuurs-Hoeijmakers syndromeSchwannomatosisSchwartz-Jampel syndromeSchwartz-Jampel syndrome type 1SclerocorneaSclerosteosisSclerosteosis 1Sclerosteosis 2SCN4A-related channelopathySCN4A-related myopathy, autosomal recessiveSCOTT SYNDROMESDHC-related Mitochondrial DiseaseSea-blue histiocyte syndromeSeborrhea-like dermatitis with psoriasiform elementsSEC61B-related polycystic liver diseaseSeckel syndromeSeckel syndrome 1Seckel syndrome 10Seckel syndrome 11Seckel syndrome 2Seckel syndrome 4Seckel syndrome 5Seckel syndrome 6Seckel syndrome 7Seckel syndrome 8Seckel syndrome 9Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaSeizures-scoliosis-macrocephaly syndromeSeizures, benign familial infantile, 2Seizures, benign familial infantile, 3Seizures, benign familial infantile, 5Seizures, benign familial neonatal, 1Seizures, benign familial neonatal, 2Selective pituitary resistance to thyroid hormoneSELENON-related myopathySelf-healing collodion babySelf-limited epilepsy with centrotemporal spikesSemantic dementiaSengers syndromeSenior-Boichis syndromeSenior-Loken syndrome 1Senior-Loken syndrome 4Senior-Loken syndrome 5Senior-Loken syndrome 6Senior-Loken syndrome 7Senior-Loken syndrome 8Senior-Loken syndrome 9Sensory ataxic neuropathy, dysarthria, and ophthalmoparesisSepto-optic dysplasia sequenceSERKAL syndromeSessile serrated polyposis cancer syndromeSETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndromeSevere achondroplasia-developmental delay-acanthosis nigricans syndromeSevere Canavan diseaseSevere combined immunodeficiency due to CARD11 deficiencySevere combined immunodeficiency due to CARMIL2 deficiencySevere combined immunodeficiency due to CD70 deficiencySevere combined immunodeficiency due to CORO1A deficiencySevere combined immunodeficiency due to CTPS1 deficiencySevere combined immunodeficiency due to DCLRE1C deficiencySevere combined immunodeficiency due to DNA-PKcs deficiencySevere combined immunodeficiency due to IKK2 deficiencySevere combined immunodeficiency due to LAT deficiencySevere combined immunodeficiency due to LCK deficiencySevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiencySevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveSevere congenital hypochromic anemia with ringed sideroblastsSevere congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndromeSevere congenital nemaline myopathySevere dermatitis-multiple allergies-metabolic wasting syndromeSevere early-childhood-onset retinal dystrophySevere early-onset axonal neuropathy due to MFN2 deficiencySevere early-onset obesity-insulin resistance syndrome due to SH2B1 deficiencySevere early-onset pulmonary alveolar proteinosis due to MARS deficiencySevere feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndromeSevere growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndromeSevere hemophilia ASevere hemophilia BSevere hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndromeSevere intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndromeSevere intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndromeSevere intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeSevere intellectual disability-progressive spastic diplegia syndromeSevere intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndromeSevere motor and intellectual disabilities-sensorineural deafness-dystonia syndromeSevere myoclonic epilepsy in infancySevere neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletionSevere neonatal lactic acidosis due to NFS1-ISD11 complex deficiencySevere neonatal-onset encephalopathy with microcephalySevere neurodegenerative syndrome with lipodystrophySevere phosphoribosylpyrophosphate synthetase superactivitySevere primary trimethylaminuriaSevere X-linked intellectual disability, Gustavson typeSevere X-linked mitochondrial encephalomyopathySevere X-linked myotubular myopathySezary syndromeSF3B4-related acrofacial dysostosisSFTPC-related interstitial lung diseaseSharpin-related autoinflammatory syndromeShashi-Pena syndromeSheldon-Hall syndromeShort QT syndromeShort QT syndrome 7Short QT syndrome type 1Short QT syndrome type 2Short QT syndrome type 3Short rib-polydactyly syndrome, Majewski typeShort stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecansShort stature due to growth hormone qualitative anomalyShort stature due to growth hormone secretagogue receptor deficiencyShort stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemiaShort stature due to partial GHR deficiencyShort stature due to primary acid-labile subunit deficiencyShort stature-advanced bone age-early-onset osteoarthritis syndromeShort stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndromeShort stature-brachydactyly-obesity-global developmental delay syndromeShort stature-onychodysplasia-facial dysmorphism-hypotrichosis syndromeShort stature-optic atrophy-Pelger-Huët anomaly syndromeShort stature-pituitary and cerebellar defects-small sella turcica syndromeShort stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosisShort stature, microcephaly, and endocrine dysfunctionShort stature, rhizomelic, with microcephaly, micrognathia, and developmental delaySHORT syndromeShort-rib thoracic dysplasia 10 with or without polydactylyShort-rib thoracic dysplasia 11 with or without polydactylyShort-rib thoracic dysplasia 13 with or without polydactylyShort-rib thoracic dysplasia 14 with polydactylyShort-rib thoracic dysplasia 15 with polydactylyShort-rib thoracic dysplasia 16 with or without polydactylyShort-rib thoracic dysplasia 17 with or without polydactylyShort-rib thoracic dysplasia 18 with polydactylyShort-rib thoracic dysplasia 19 with or without polydactylyShort-rib thoracic dysplasia 20 with polydactylyShort-rib thoracic dysplasia 21 without polydactylyShort-rib thoracic dysplasia 6 with or without polydactylyShort-rib thoracic dysplasia 7 with or without polydactylyShort-rib thoracic dysplasia 8 with or without polydactylySHOX-related short statureShprintzen-Goldberg syndromeShukla-Vernon syndromeShwachman syndromeShwachman-Diamond syndrome 1Shwachman-Diamond syndrome 2Sialic acid storage disease, severe infantile typeSialidosis type 1Sialidosis type 2SialuriaSick sinus syndrome 1Sick sinus syndrome 2, autosomal dominantSick sinus syndrome 4Sickle cell-hemoglobin C diseaseSickle cell-hemoglobin D diseaseSickle cell-hemoglobin E disease syndromeSideroblastic anemia 2Sideroblastic anemia 3Sifrim-Hitz-Weiss syndromeSilver-Russell syndrome 1Silver-Russell syndrome 3Silver-russell syndrome 4Silver-Russell syndrome 5SIM1-related Prader-Willi-like syndromeSimpson-Golabi-Behmel syndromeSimpson-Golabi-Behmel syndrome type 1Simpson-Golabi-Behmel syndrome type 2SIN3A-related intellectual disability syndromeSIN3A-related intellectual disability syndrome due to a point mutationSingleton-Merten syndromeSingleton-Merten syndrome 1Singleton-Merten syndrome 2Sinoatrial node dysfunction and deafnessSinus venosus atrial septal defectSitosterolemiaSitosterolemia 1Sitosterolemia 2Situs inversusSjögren-Larsson syndromeSkeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeSkeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndromeSkin creases, congenital symmetric circumferential, 2Skin fragility-woolly hair-palmoplantar keratoderma syndromeSkraban-Deardorff syndromeSLC35A1-congenital disorder of glycosylationSLC35A2-congenital disorder of glycosylationSLC39A8-CDGSLC6A3-related dopamine transporter deficiency syndromeSmall cell lung carcinomaSMARCA4-deficient sarcoma of thoraxSMARCB1-related schwannomatosisSmith-Lemli-Opitz syndromeSmith-Magenis syndromeSmith-McCort dysplasiaSmith-McCort dysplasia 1Smith-McCort dysplasia 2Smouldering systemic mastocytosisSneddon syndromeSnijders Blok-Campeau syndromeSnijders blok-fisher syndromeSnowflake vitreoretinal degenerationSNRNP200-related dominant retinopathySNUPN-related muscular dystrophy with or without multi-system involvementSolitary median maxillary central incisor syndromeSomatotroph adenomaSorsby fundus dystrophySotos syndromeSoutheast Asian ovalocytosisSOX11-related complex neurodevelopmental disorder with or without congenital anomaliesSpastic ataxia 1Spastic ataxia 10, autosomal recessiveSpastic ataxia 2Spastic ataxia 3Spastic ataxia 4Spastic ataxia 5Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophySpastic ataxia 9, autosomal recessiveSpastic ataxia-dysarthria due to glutaminase deficiencySpastic paraparesis-cataracts-speech delay syndromeSpastic paraplegia 18a, autosomal dominantSpastic paraplegia 30b, autosomal recessiveSpastic paraplegia 70, autosomal recessiveSpastic paraplegia 72b, autosomal recessiveSpastic paraplegia 79A, autosomal dominant, with ataxiaSpastic paraplegia 80, autosomal dominantSpastic paraplegia 81, autosomal recessiveSpastic paraplegia 82, autosomal recessiveSpastic paraplegia 83, autosomal recessiveSpastic paraplegia 84, autosomal recessiveSpastic paraplegia 85, autosomal recessiveSpastic paraplegia 86, autosomal recessiveSpastic paraplegia 87, autosomal recessiveSpastic paraplegia 88, autosomal dominantSpastic paraplegia 89, autosomal recessiveSpastic paraplegia 90A, autosomal dominantSpastic paraplegia 90B, autosomal recessiveSpastic paraplegia 91, autosomal dominant, with or without cerebellar ataxiaSpastic paraplegia 92, autosomal recessiveSpastic paraplegia 93, autosomal recessiveSpastic paraplegia-Paget disease of bone syndromeSpastic paraplegia-severe developmental delay-epilepsy syndromeSpastic paraplegia, intellectual disability, nystagmus, and obesitySpastic paraplegia, optic atropy, and neuropathySpastic quadriplegic cerebral palsySpastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeSpasticity-ataxia-gait anomalies syndromeSPATA7-related retinopathySpecific granule deficiencySpecific granule deficiency 1Specific granule deficiency 2Spermatogenic failure 10Spermatogenic failure 11Spermatogenic failure 12Spermatogenic failure 13Spermatogenic failure 14Spermatogenic failure 15Spermatogenic failure 18Spermatogenic failure 19Spermatogenic failure 2Spermatogenic failure 20Spermatogenic failure 22Spermatogenic failure 23Spermatogenic failure 25Spermatogenic failure 27Spermatogenic failure 28Spermatogenic failure 3Spermatogenic failure 30Spermatogenic failure 32Spermatogenic failure 33Spermatogenic failure 34Spermatogenic failure 37Spermatogenic failure 38Spermatogenic failure 39Spermatogenic failure 4Spermatogenic failure 40Spermatogenic failure 41Spermatogenic failure 42Spermatogenic failure 43Spermatogenic failure 48Spermatogenic failure 52Spermatogenic failure 7Spermatogenic failure 8Spermatogenic failure 9Spermatogenic failure, X-linked, 2Spermatogenic failure, Y-linked, 2Sphingolipid activator protein 1 deficiencySpinal muscular atrophy with congenital bone fractures 1Spinal muscular atrophy with congenital bone fractures 2Spinal muscular atrophy with respiratory distress type 2Spinal muscular atrophy-progressive myoclonic epilepsy syndromeSpinal muscular atrophy, distal, autosomal recessive, 6Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominantSpinal muscular atrophy, type IISpinal muscular atrophy, type IVSpinocerebellar ataxia 27ASpinocerebellar ataxia 27B, late-onsetSpinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficitsSpinocerebellar ataxia 43Spinocerebellar ataxia 44Spinocerebellar ataxia 45Spinocerebellar ataxia 46Spinocerebellar ataxia 47Spinocerebellar ataxia 48Spinocerebellar ataxia 49Spinocerebellar ataxia 50Spinocerebellar ataxia 51Spinocerebellar ataxia 7Spinocerebellar ataxia type 1Spinocerebellar ataxia type 10Spinocerebellar ataxia type 11Spinocerebellar ataxia type 12Spinocerebellar ataxia type 13Spinocerebellar ataxia type 14Spinocerebellar ataxia type 15/16Spinocerebellar ataxia type 17Spinocerebellar ataxia type 18Spinocerebellar ataxia type 19/22Spinocerebellar ataxia type 2Spinocerebellar ataxia type 21Spinocerebellar ataxia type 23Spinocerebellar ataxia type 25Spinocerebellar ataxia type 26Spinocerebellar ataxia type 27Spinocerebellar ataxia type 28Spinocerebellar ataxia type 29Spinocerebellar ataxia type 31Spinocerebellar ataxia type 34Spinocerebellar ataxia type 35Spinocerebellar ataxia type 36Spinocerebellar ataxia type 37Spinocerebellar ataxia type 38Spinocerebellar ataxia type 4Spinocerebellar ataxia type 40Spinocerebellar ataxia type 41Spinocerebellar ataxia type 42Spinocerebellar ataxia type 5Spinocerebellar ataxia type 6Spinocerebellar ataxia type 8Spinocerebellar ataxia with epilepsySpinocerebellar ataxia, autosomal recessive 22Spinocerebellar ataxia, autosomal recessive 23Spinocerebellar ataxia, autosomal recessive 24Spinocerebellar ataxia, autosomal recessive 25Spinocerebellar ataxia, autosomal recessive 26Spinocerebellar ataxia, autosomal recessive 27Spinocerebellar ataxia, autosomal recessive 28Spinocerebellar ataxia, autosomal recessive 29Spinocerebellar ataxia, autosomal recessive 30Spinocerebellar ataxia, autosomal recessive 31Spinocerebellar ataxia, autosomal recessive 32Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3Split hand-foot malformation 1Split hand-foot malformation 1 with sensorineural hearing lossSplit hand-foot malformation 4Split hand-foot malformation 6Split-foot malformation-mesoaxial polydactyly syndromeSponastrime dysplasiaSpondylo-megaepiphyseal-metaphyseal dysplasiaSpondylo-ocular syndromeSpondylocarpotarsal synostosis syndromeSpondylocostal dysostosis 1, autosomal recessiveSpondylocostal dysostosis 2, autosomal recessiveSpondylocostal dysostosis 3, autosomal recessiveSpondylocostal dysostosis 4, autosomal recessiveSpondylocostal dysostosis 5Spondylocostal dysostosis 6, autosomal recessiveSpondyloenchondrodysplasia with immune dysregulationSpondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fracturesSpondyloepimetaphyseal dysplasia with joint laxity, type 3Spondyloepimetaphyseal dysplasia with multiple dislocationsSpondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndromeSpondyloepimetaphyseal dysplasia, aggrecan typeSpondyloepimetaphyseal dysplasia, Bieganski typeSpondyloepimetaphyseal dysplasia, di rocco typeSpondyloepimetaphyseal dysplasia, Genevieve typeSpondyloepimetaphyseal dysplasia, Guo-Campeau typeSpondyloepimetaphyseal dysplasia, Isidor typeSpondyloepimetaphyseal dysplasia, Isidor-Toutain typeSpondyloepimetaphyseal dysplasia, Krakow typeSpondyloepimetaphyseal dysplasia, Li-Shao-Li typeSpondyloepimetaphyseal dysplasia, Maroteaux typeSpondyloepimetaphyseal dysplasia, matrilin-3 typeSpondyloepimetaphyseal dysplasia, Missouri typeSpondyloepimetaphyseal dysplasia, PAPSS2 typeSpondyloepimetaphyseal dysplasia, Shohat typeSpondyloepimetaphyseal dysplasia, Strudwick typeSpondyloepiphyseal dysplasia congenitaSpondyloepiphyseal dysplasia tardaSpondyloepiphyseal dysplasia tarda, X-linkedSpondyloepiphyseal dysplasia with congenital joint dislocationsSpondyloepiphyseal dysplasia with metatarsal shorteningSpondyloepiphyseal dysplasia, Kimberley typeSpondyloepiphyseal dysplasia, kondo-fu typeSpondyloepiphyseal dysplasia, nishimura typeSpondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosisSpondyloepiphyseal dysplasia, Stanescu typeSpondylometaphyseal dysplasia - Sutcliffe typeSpondylometaphyseal dysplasia with corneal dystrophySpondylometaphyseal dysplasia-cone-rod dystrophy syndromeSpondylometaphyseal dysplasia, Kozlowski typeSpondylometaphyseal dysplasia, pagnamenta typeSpondylometaphyseal dysplasia, Schmidt typeSpondylometaphyseal dysplasia, Sedaghatian typeSpondyloperipheral dysplasiaSpongiform encephalopathy with neuropsychiatric featuresSpongy degeneration of central nervous systemSporadic pheochromocytoma/secreting paragangliomaSQSTM1-related multisystem proteinopathySquamous cell carcinoma of lipSquamous cell carcinoma of the head and neckSRD5A3-congenital disorder of glycosylationSSR4-congenital disorder of glycosylationStankiewicz-Isidor syndromeStapes ankylosis with broad thumbs and toesStargardt diseaseStargardt disease 3Stargardt disease 4STAT3-related early-onset multisystem autoimmune diseaseSteatocystoma multiplexSteel syndromeSteinert myotonic dystrophy syndromeSterile multifocal osteomyelitis with periostitis and pustulosisSterol carrier protein 2 deficiencyStevens-Johnson syndromeStickler syndromeStickler syndrome type 1Stickler syndrome type 2Stickler syndrome, type 4Stickler syndrome, type 5Stickler syndrome, type 6Stickler syndrome, type I, nonsyndromic ocularStiff skin syndromeSTING-associated vasculopathy with onset in infancyStorage pool disease of plateletsStormorken syndromeStriatal degeneration, autosomal dominantStriatal degeneration, autosomal dominant 2Striate palmoplantar keratodermaStriatonigral degeneration, childhood-onsetStromme syndromeStructural heart defects and renal anomalies syndromeSTT3A-congenital disorder of glycosylationSTT3B-congenital disorder of glycosylationSturge-Weber syndromeStüve-Wiedemann syndrome 1Subcortical band heterotopiaSubcutaneous panniculitis-like T-cell lymphomaSuccinate-semialdehyde dehydrogenase deficiencySuccinyl-CoA acetoacetate transferase deficiencySucrase-isomaltase deficiencySudden cardiac failure, infantileSudden infant death-dysgenesis of the testes syndromeSulfide quinone oxidoreductase deficiencySulfite oxidase deficiencySulfite oxidase deficiency due to molybdenum cofactor deficiency type ASulfite oxidase deficiency due to molybdenum cofactor deficiency type BSulfite oxidase deficiency due to molybdenum cofactor deficiency type CSupranuclear palsy, progressive, 1Supravalvar aortic stenosisSurfactant metabolism dysfunction, pulmonary, 1Surfactant metabolism dysfunction, pulmonary, 2Surfactant metabolism dysfunction, pulmonary, 4Surfactant metabolism dysfunction, pulmonary, 5Susceptibility to localized juvenile periodontitisSusceptibility to respiratory infections associated with CD8alpha chain mutationSymmetrical dyschromatosis of extremitiesSymphalangism-brachydactyly syndromeSymphalangism, proximal, 1BSymptomatic form of Coffin-Lowry syndrome in female carriersSymptomatic form of hemophilia A in female carriersSymptomatic form of hemophilia B in female carriersSymptomatic form of muscular dystrophy of Duchenne and Becker in female carriersSyndactyly type 3Syndactyly type 4Syndactyly type 5Syndactyly type 8Syndactyly-telecanthus-anogenital and renal malformations syndromeSyndromic congenital sodium diarrheaSyndromic microphthalmia type 5Syndromic multisystem autoimmune disease due to ITCH deficiencySyndromic X-linked intellectual disability 14Syndromic X-linked intellectual disability 34Syndromic X-linked intellectual disability Claes-Jensen typeSyndromic X-linked intellectual disability Hedera typeSyndromic X-linked intellectual disability Lubs typeSyndromic X-linked intellectual disability Najm typeSyndromic X-linked intellectual disability Nascimento typeSyndromic X-linked intellectual disability Raymond typeSyndromic X-linked intellectual disability Shashi typeSyndromic X-linked intellectual disability Siderius typeSyndromic X-linked intellectual disability Snyder typeSynpolydactyly type 1Synpolydactyly type 2Syringocystadenoma papilliferumSystemic lupus erythematosus 17Systemic lupus erythematosus related to C1QASystemic lupus erythematosus related to C1SSystemic mastocytosis with an associated clonal hematologic non-mast cell lineage diseaseSystemic-onset juvenile idiopathic arthritisT-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaT-B+ severe combined immunodeficiency due to CD45 deficiencyT-B+ severe combined immunodeficiency due to IL-7Ralpha deficiencyT-B+ severe combined immunodeficiency due to JAK3 deficiencyT-cell immunodeficiency with epidermodysplasia verruciformisT-cell immunodeficiency, congenital alopecia, and nail dystrophyT-cell large granular lymphocyte leukemiaT-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominantT-lymphocyte deficiencyTall stature-intellectual disability-renal anomalies syndromeTall stature-scoliosis-macrodactyly of the great toes syndromeTangier diseaseTARP syndromeTarsal-carpal coalition syndromeTatton-Brown-Rahman overgrowth syndromeTay-Sachs diseaseTay-Sachs disease, B variant, adult formTay-Sachs disease, b variant, infantile formTay-Sachs disease, b variant, juvenile formTay-Sachs disease, variant ABTCF12-related craniosynostosisTCR-alpha-beta-positive T-cell deficiencyTeebi hypertelorism syndrome 1TEK-related primary glaucomaTelangiectasia macularis eruptiva perstansTelangiectasia, hereditary hemorrhagic, type 1Telangiectasia, hereditary hemorrhagic, type 2Telangiectasia, hereditary hemorrhagic, type 5TELO2-related intellectual disability-neurodevelopmental disorderTemperature-sensitive oculocutaneous albinism type 1Temple-Baraitser syndromeTemtamy preaxial brachydactyly syndromeTemtamy syndromeTerminal osseous dysplasia-pigmentary defects syndromeTessier number 4 facial cleftTesticular anomalies with or without congenital heart diseaseTesticular seminomaTestosterone 17-beta-dehydrogenase deficiencyTetraamelia syndrome 1Tetraamelia syndrome 2Tetraamelia-multiple malformations syndromeTetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuriaTetralogy of FallotTFRC-related combined immunodeficiencyThanatophoric dysplasiaThanatophoric dysplasia type 1Thanatophoric dysplasia, type 2Thiamine-responsive maple syrup urine diseaseThiel-Behnke corneal dystrophyThiopurine S-methyltransferase deficiencyThis file was downloaded from RARe-SOURCE®, Integrated Bioinformatics Resource for Rare Diseases on 2026-05-20.THOC6-related developmental delay-microcephaly-facial dysmorphism syndromeThomsen and Becker diseaseThrombocythemia 1Thrombocythemia 2Thrombocythemia 3Thrombocytopenia 1Thrombocytopenia 10Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic faciesThrombocytopenia 12 with or without myopathyThrombocytopenia 13, syndromicThrombocytopenia 2Thrombocytopenia 3Thrombocytopenia 4Thrombocytopenia 5Thrombocytopenia 6Thrombocytopenia 7Thrombocytopenia 9Thrombocytopenia with congenital dyserythropoietic anemiaThrombocytopenia, X-linked, with or without dyserythropoietic anemiaThrombomodulin-related bleeding disorderThrombophilia due to activated protein C resistanceThrombophilia due to protein C deficiency, autosomal dominantThrombophilia due to protein C deficiency, autosomal recessiveThrombophilia due to protein S deficiency, autosomal dominantThrombophilia due to protein S deficiency, autosomal recessiveThrombophilia due to thrombin defectThrombophilia, X-linked, due to factor 8 defectThrombophilia, X-linked, due to factor 9 defectThyroglobulin synthesis defectThyroid agenesisThyroid cancer, nonmedullary, 1Thyroid cancer, nonmedullary, 2Thyroid cancer, nonmedullary, 4Thyroid cancer, nonmedullary, 5Thyroid dyshormonogenesis 1Thyroid dyshormonogenesis 6Thyroid hormone metabolism, abnormal 1Thyroid hormone resistance, generalized, autosomal dominantThyroid hormone resistance, generalized, autosomal recessiveThyroid hypoplasiaTibia, hypoplasia or aplasia of, with polydactylyTibial hemimeliaTibial muscular dystrophyTietz syndromeTimothy syndromeTimothy syndrome type 1Timothy syndrome type 2Timothy syndrome, atypical typeTMEM165-congenital disorder of glycosylationTMEM199-CDGTMEM63B-related developmental and epileptic encephalopathy with anemiaTNF receptor-associated periodic fever syndrome (TRAPS)Tolchin-Le Caignec syndromeTooth agenesis, selective, 1Tooth agenesis, selective, 10Tooth agenesis, selective, 3Tooth agenesis, selective, 4Tooth agenesis, selective, 7Tooth agenesis, selective, 8Tooth agenesis, selective, 9Tooth agenesis, selective, X-linked, 1TOPORS-related retinopathyToriello-Carey syndromeToriello-Lacassie-Droste syndromeTorsion dystonia 2Torsion dystonia 4Torsion dystonia 6Townes syndromeTownes-Brocks syndrome 1Townes-Brocks syndrome 2TPM2-related myopathyTPM3-related myopathyTPM4-related platelet disorderTRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndromeTranscobalamin II deficiencyTransient bullous dermolysis of the newbornTransient infantile hypertriglyceridemia and hepatosteatosisTransient myeloproliferative syndromeTransketolase deficiencyTreacher Collins syndromeTreacher Collins syndrome 1Treacher Collins syndrome 2Treacher Collins syndrome 3Treacher Collins syndrome 4Tremor-ataxia-central hypomyelination syndromeTREX1-related type 1 interferonopathyTricho-dento-osseous syndromeTrichoepithelioma, multiple familial, 1Trichohepatoenteric syndromeTrichohepatoenteric syndrome 1Trichohepatoenteric syndrome 2Trichomegaly-retina pigmentary degeneration-dwarfism syndromeTrichorhinophalangeal dysplasia type ITrichothiodystrophyTrichothiodystrophy 1, photosensitiveTrichothiodystrophy 2, photosensitiveTrichothiodystrophy 3, photosensitiveTrichothiodystrophy 4, nonphotosensitiveTrichothiodystrophy 5, nonphotosensitiveTrichothiodystrophy 6, nonphotosensitiveTrichothiodystrophy 7, nonphotosensitiveTrichothiodystrophy 8, nonphotosensitiveTrichothiodystrophy 9, nonphotosensitiveTriglyceride deposit cardiomyovasculopathyTriglyceride storage disease with ichthyosisTrigonocephaly 1Trigonocephaly 2TRIM22-related inflammatory bowel diseaseTriosephosphate isomerase deficiencyTriphalangeal thumb-polysyndactyly syndromeTropical pancreatitisTroyer syndromeTRPM1-related retinopathyTSPAN12-related vitreoretinopathyTTC8-related ciliopathyTTLL5-related retinopathyTTN-related myopathyTUBB2A-related tubulinopathyTUBB4A-related neurologic disorderTUBB4B-related ciliopathyTuberous sclerosis 1Tuberous sclerosis 2Tuberous sclerosis syndromeTubular renal disease-cardiomyopathy syndromeTubulinopathy-associated dysgyriaTubulointerstitial kidney disease, autosomal dominant, 2Tufted angioma of skinTumor predisposition syndrome 2Tumor predisposition syndrome 3Tumoral calcinosis, hyperphosphatemic, familial, 1Tumoral calcinosis, hyperphosphatemic, familial, 2Tumoral calcinosis, hyperphosphatemic, familial, 3Turnpenny-fry syndromeTWIST1-related craniosynostosisType A2 brachydactylyType I complement component 8 deficiencyType II complement component 8 deficiencyType IV short rib polydactyly syndromeTypical nemaline myopathyTypical urticaria pigmentosaTyrosinase-positive oculocutaneous albinismTyrosinemia type ITyrosinemia type IITyrosinemia type IIIUDPglucose-4-epimerase deficiencyUllrich congenital muscular dystrophyUllrich congenital muscular dystrophy 1AUllrich congenital muscular dystrophy 1BUllrich congenital muscular dystrophy 1CUllrich congenital muscular dystrophy 2Ulnar-mammary syndromeUncombable hair syndromeUncombable hair syndrome 1Uncombable hair syndrome 2Uncombable hair syndrome 3Undetermined early-onset epileptic encephalopathyUnilateral multicystic dysplastic kidneyUnilateral renal agenesisUnilateral renal dysplasiaUnverricht-Lundborg syndromeUpshaw-Schulman syndromeUridine-cytidineuriaUrocanate hydratase deficiencyUROD-related inherited porphyriaUrofacial syndrome 2Urofacial syndrome type 1Uruguay Faciocardiomusculoskeletal syndromeUsher syndrome type 1Usher syndrome type 1BUsher syndrome type 1CUsher syndrome type 1DUsher syndrome type 1FUsher syndrome type 1GUsher syndrome type 1JUsher syndrome type 2Usher syndrome type 2AUsher syndrome type 2CUsher syndrome type 2DUsher syndrome type 3Usher syndrome type 3AUsher syndrome type 3BUsher syndrome, type 1D/FUsher syndrome, type 1MUsher syndrome, type 4UV-sensitive syndromeUV-sensitive syndrome 1UV-sensitive syndrome 2UV-sensitive syndrome 3Uveal coloboma-cleft lip and palate-intellectual disabilityUveal melanomaVACTERL association, X-linked, with or without hydrocephalusVACTERL with hydrocephalusVan den Ende-Gupta syndromeVan der Woude syndromeVan der Woude syndrome 1Van der Woude syndrome 2Van Maldergem syndromeVan Maldergem syndrome 1Van Maldergem syndrome 2Variant ABeta2M amyloidosisVariegate porphyriaVariegate porphyria, childhood-onsetVas deferens, congenital bilateral aplasia of, X-linkedVasculitis due to ADA2 deficiencyVegetative pyoderma gangrenosumVein of Galen aneurysmal malformationVelocardiofacial syndromeVentricular fibrillation, paroxysmal familial, 2Ventricular fibrillation, paroxysmal familial, type 1Ventriculomegaly-cystic kidney diseaseVertebral, cardiac, renal, and limb defects syndrome 1Vertebral, cardiac, renal, and limb defects syndrome 2Vertebral, cardiac, renal, and limb defects syndrome 3Ververi-Brady syndromeVery long chain acyl-CoA dehydrogenase deficiencyVesicoureteral reflux 2Vesicoureteral reflux 3Vesicoureteral reflux 8VEXAS syndromeVici syndromeVisceral myopathy 2Visceral neuropathy, familial, 1, autosomal recessiveVitamin B12-responsive methylmalonic acidemia, type cblDv2Vitamin B12-unresponsive methylmalonic acidemia type mut-Vitamin B12-unresponsive methylmalonic acidemia type mut0Vitamin D hydroxylation-deficient rickets, type 1BVitamin D-dependent rickets type II with alopeciaVitamin D-dependent rickets, type 1Vitamin D-dependent rickets, type 1AVitamin D-dependent rickets, type 2Vitamin D-dependent rickets, type 3Vitamin K-dependent clotting factors, combined deficiency of, type 1Vitamin K-dependent clotting factors, combined deficiency of, type 2Vitelliform macular dystrophy 2Vitelliform macular dystrophy 3Vitelliform macular dystrophy 4Vitelliform macular dystrophy 5Von Hippel-Lindau syndromeVon Willebrand disease type 1Von Willebrand disease type 2Von Willebrand disease type 2AVon Willebrand disease type 2BVon Willebrand disease type 2MVon Willebrand disease type 2NVon Willebrand disease type 3Waardenburg syndrome type 1Waardenburg syndrome type 2Waardenburg syndrome type 2AWaardenburg syndrome type 2EWaardenburg syndrome type 3Waardenburg syndrome type 4AWaardenburg syndrome type 4BWaardenburg syndrome type 4CWaardenburg syndrome, IIa 2FWaardenburg-Shah syndromeWagner diseaseWaldenstrom macroglobulinemiaWalker-Warburg congenital muscular dystrophyWarburg micro syndromeWarburg micro syndrome 1Warburg micro syndrome 2Warburg micro syndrome 3Warburg micro syndrome 4Warburg-cinotti syndromeWarsaw breakage syndromeWeaver syndromeWeill-Marchesani 4 syndrome, recessiveWeill-Marchesani syndromeWeill-Marchesani syndrome 1Weill-Marchesani syndrome 2, dominantWeill-Marchesani syndrome 3Welander distal myopathyWerdnig-Hoffmann diseaseWerner syndromeWHIM syndrome 1White sponge nevusWhite sponge nevus 1White sponge nevus 2Wieacker-Wolff syndromeWieacker-Wolff syndrome, female-restrictedWiedemann-Steiner syndromeWilliams syndromeWilms tumor 1Wilms tumor 5Wilms tumor 6Wilson diseaseWilson-Turner syndromeWinchester syndromeWiskott-Aldrich syndromeWiskott-Aldrich syndrome 2Wolcott-Rallison dysplasiaWolfram syndromeWolfram syndrome 1Wolfram syndrome 2Wolfram-like syndromeWolman diseaseWoodhouse-Sakati syndromeWooly hairWooly hair nevusWooly hair-palmoplantar keratoderma syndromeWooly hair, autosomal recessive 3Worth diseaseWrinkly skin syndromeX-linked acrogigantism due to Xq26 microduplicationX-linked agammaglobulinemiaX-linked agammaglobulinemia with growth hormone deficiencyX-linked Alport syndromeX-linked central congenital hypothyroidism with late-onset testicular enlargementX-linked cerebral adrenoleukodystrophyX-linked chondrodysplasia punctata 1X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndromeX-linked complicated corpus callosum dysgenesisX-linked complicated spastic paraplegia type 1X-linked cone-rod dystrophy 1X-linked cone-rod dystrophy 3X-linked congenital generalized hypertrichosisX-linked congenital hemolytic anemiaX-linked distal spinal muscular atrophy type 3X-linked dominant chondrodysplasia, Chassaing-Lacombe typeX-linked dyserythropoetic anemia with abnormal platelets and neutropeniaX-linked dystonia-parkinsonismX-linked Ehlers-Danlos syndromeX-linked Emery-Dreifuss muscular dystrophyX-linked erythropoietic protoporphyriaX-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndromeX-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityX-linked hereditary sensory and autonomic neuropathy with hearing lossX-linked hydrocephalus syndromeX-linked ichthyosis with steryl-sulfatase deficiencyX-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasiaX-linked intellectual disability Cabezas typeX-linked intellectual disability with isolated growth hormone deficiencyX-linked intellectual disability with marfanoid habitusX-linked intellectual disability-cardiomegaly-congestive heart failure syndromeX-linked intellectual disability-cerebellar hypoplasia syndromeX-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeX-linked intellectual disability-hypotonia-movement disorder syndromeX-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndromeX-linked intellectual disability-psychosis-macroorchidism syndromeX-linked intellectual disability-short stature-overweight syndromeX-linked intellectual disability, Cantagrel typeX-linked intellectual disability, Golabi-Ito-hall typeX-linked intellectual disability, Porteous typeX-linked intellectual disability, Stocco dos Santos typeX-linked intellectual disability, Sutherland-Haan typeX-linked intellectual disability, van Esch typeX-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndromeX-linked lissencephaly with abnormal genitaliaX-linked lymphoproliferative disease due to SH2D1A deficiencyX-linked lymphoproliferative disease due to XIAP deficiencyX-linked Mendelian susceptibility to mycobacterial diseasesX-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiencyX-linked microcephaly-growth retardation-prognathism-cryptorchidism syndromeX-linked mixed hearing loss with perilymphatic gusherX-linked myopathy with excessive autophagyX-linked myopathy with postural muscle atrophyX-linked non progressive cerebellar ataxiaX-linked nonsyndromic hearing lossX-linked Opitz G/BBB syndromeX-linked osteoporosis with fracturesX-linked parkinsonism-spasticity syndromeX-linked progressive cerebellar ataxiaX-linked recessive mitochondrial myopathyX-linked recessive nephrolithiasis with renal failureX-linked reticulate pigmentary disorderX-linked scapuloperoneal muscular dystrophyX-linked severe combined immunodeficiencyX-linked severe congenital neutropeniaX-linked severe syndromic thoracic aortic aneurysm and dissectionX-linked sideroblastic anemia 1X-linked sideroblastic anemia with ataxiaX-linked spasticity-intellectual disability-epilepsy syndromeX-linked spondyloepimetaphyseal dysplasiaXanthinuria type IIXerocytosisXeroderma pigmentosumXeroderma pigmentosum group AXeroderma pigmentosum group BXeroderma pigmentosum variant typeXeroderma pigmentosum-Cockayne syndrome complexXeroderma pigmentosum, group CXeroderma pigmentosum, group DXeroderma pigmentosum, group EXeroderma pigmentosum, group FXeroderma pigmentosum, group GXFE progeroid syndromeXYLT1-congenital disorder of glycosylationY chromosome infertility due to DAZ1 deletionYellow nail syndromeYoung syndromeYoung-onset Parkinson diseaseYunis-Varon syndromeZebra body myopathyZellweger spectrum disordersZiegler-Huang syndromeZimmermann-Laband syndromeZimmermann-Laband syndrome 1Zimmermann-Laband syndrome 2Zimmermann-Laband syndrome 3ZTTK syndromeZygodactyly type 3