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Biomedical Sciences - Human Genetics | Human Genetics – Abbreviations for Diseases

Human Genetics – Abbreviations for Diseases

diseasegene
Epilepsya2bp1
Mental retardationa2bp1
Chronic obstructive pulmonary diseaseA2M
Pk synthase deficiency (p phenotype)A4GALT
Triple-A syndromeAAAS
HyperlysinaemiaAASS
GABA-transaminase deficiencyABAT
Scott syndromeABCA1
Tangier diseaseABCA1
HDL deficiencyABCA1
Ichthyosis, lamellar, type 2ABCA12
Ichthyosis, harlequinABCA12
Fatal surfactant deficiencyABCA3
Cone-rod dystrophyABCA4
Retinitis pigmentosaABCA4
Retinal dystrophyABCA4
Cone-rod degenerationABCA4
Fundus flavimaculatusABCA4
Stargardt diseaseABCA4
Stargardt disease and macular degenerationABCA4
Fundus flavimaculatus, late onsetABCA4
Macular degeneration, age relatedABCA4
Intrahepatic cholestasis of pregnancyABCB11
Intrahepatic cholestasis, familial benignABCB11
Intrahepatic cholestasis, familial progressive 2ABCB11
Intrahepatic cholestasis of pregnancyABCB4
Low phospholipid associated cholelithiasisABCB4
Intrahepatic cholestasis, familial progressiveABCB4
Sideroblastic anaemia and ataxiaABCB7
Dubin-Johnson syndromeABCC2
Methotrexate elimination, impairedABCC2
Pseudoxanthoma elasticum, autosomal dominantABCC6
Pseudoxanthoma elasticum, autosomal recessiveABCC6
Pseudoxanthoma elasticumABCC6
Hypoglycaemia, persistent hyperinsulinaemicABCC8
Hyperinsulinism and Usher syndromeABCC8
Diabetes, neonatalABCC8
HyperinsulinismABCC8
Cardiomyopathy, dilatedABCC9
AdrenomyeloneuropathyABCD1
Addison diseaseABCD1
AdrenoleukodystrophyABCD1
Zellweger syndromeABCD3
SitosterolaemiaABCG5
SitosterolaemiaABCG8
Chanarin-Dorfman syndromeABHD5
Isobutyryl-CoA dehydrogenase deficiencyACAD8
Medium chain acyl CoA dehydrogenase deficiencyACADM
Acyl-CoA-dehydrogenase deficiencyACADS
2-Methylbutyryl-CoA dehydrogenase deficiencyACADSB
Very long chain acyl-CoA dehydrogenase deficiencyACADVL
Spondyloepiphyseal dysplasia, Kimberley typeACAN
Acetoacetyl-CoA-thiolase deficiencyACAT1
Renal tubular dysgenesisACE
Mental retardation, X-linkedACSL4
Congenital myopathy with fibre-type disproportionACTA1
Core myopathyACTA1
Nemaline myopathyACTA1
Actin myopathyACTA1
Nemaline myopathy and hypertrophic cardiomyopathyACTA1
Developmental malformations, sensory hearing loss & dystoniaACTB
Neutrophil dysfunction and recurrent infectionACTB
Cardiomyopathy, dilatedACTC1
Cardiomyopathy, hypertrophicACTC1
Deafness, dominant progressiveACTG1
Cardiomyopathy, dilatedACTN2
Glomerulosclerosis, focal and segmentalACTN4
Fibrodysplasia ossificans progressivaACVR1
Left-right axis malformationACVR2B
Haemorrhagic telangiectasia 2ACVRL1
Pulmonary hypertension, primaryACVRL1
Pituitary cancerACVRL1
Aminoacylase I deficiencyACY1
Adenosine deaminase deficiencyADA
Weill-Marchesani syndromeADAMTS10
Upshaw-Schulman syndromeADAMTS13
Thrombotic thrombocytopaenic purpuraADAMTS13
Ehlers-Danlos syndrome VIIcADAMTS2
Dyschromatosis symmetrica hereditariaADAR
Adiponectin deficiencyADIPOQ
Adenylosuccinate lyase deficiencyADSL
Mental retardation / autismADSL
Premature ovarian failureAFF2
Fragile site, FRAXEAFF2
Hereditary persistence of alpha-fetoproteinAFP
Alpha-fetoprotein deficiencyAFP
AspartylglucosaminuriaAGA
Klippel-Trenaunay syndromeAGGF1
Glycogen storage disease 3aAGL
Glycogen storage disease 3AGL
Glycogen storage disease 3dAGL
Berardinelli-Seip lipodystrophyAGPAT2
Alkyl-DHAP synthase deficiencyAGPS
PreeclampsiaAGT
Renal tubular dysgenesisAGT
HypertensionAGT
Renal tubular dysgenesisAGTR1
Mental retardation, X-linkedAGTR2
HyperoxaluriaAGXT
S-adenosylhomocysteine hydrolase deficiencyAHCY
Joubert syndromeAHI1
Hyper-IgM syndromeAICDA
Pituitary adenomaAIP
Cone-rod dystrophyAIPL1
Leber congenital amaurosis IVAIPL1
APECEDAIRE
Addison disease with autoimmune thyroiditisAIRE
Adenylate kinase deficiencyAK1
Diabetes mellitus, without diabetic complicationsAKR1B1
Cholestatic liver disease in infancyAKR1D1
Severe insulin resistance and diabetes mellitusAKT2
ALAD deficiencyALAD
Porphyria, acute intermittentALAD
Sideroblastic anaemiaALAS2
Severe iron overloadALAS2
AnalbuminaemiaALB
Dysalbuminaemic hyperthyroxinaemia, familialALB
HyperammonaemiaALDH18A1
Sjoegren-Larsson syndromeALDH3A2
Hyperprolinaemia 2ALDH4A1
SSADH deficiency with D-2-hydroxyglutaric aciduriaALDH5A1
Succinic semialdehyde dehydrogenase deficiencyALDH5A1
MMSDH deficiencyALDH6A1
Epilepsy, pyridoxine-dependentALDH7A1
Metabolic myopathy / haemolysisALDOA
Aldolase A deficiencyALDOA
Aldolase B deficiencyALDOB
Fructose intoleranceALDOB
Congenital disorder of glycosylation 1kALG1
Congenital disorder of glycosylation 1gALG12
Congenital disorder of glycosylation 1iALG2
Congenital disorder of glycosylation 1dALG3
Congenital disorder of glycosylation 1cALG6
Congenital disorder of glycosylation 1c, mildALG6
Congenital disorder of glycosylation 1hALG8
Congenital disorder of glycosylation 1lALG9
Alstrom syndromeALMS1
Ichthyosiform erythroderma, nonbullous 1ALOX12B
Ichthyosis, congenital, autosomal recessiveALOX12B
Ichthyosis, congenital, autosomal recessiveALOXE3
Ichthyosiform erythroderma, nonbullous 1ALOXE3
HypophosphatasiaALPL
Spastic paralysis, infantile-onsetALS2
Primary lateral sclerosis, juvenileALS2
Spastic paraplegiaALS2
Amyotrophic lateral sclerosisALS2
Foramina parietalia permagnaALX4
Alpha methylacyl CoA racemase deficiencyAMACR
Amelogenesis imperfectaAMELX
OligozoospermiaAMELY
Persistent Mullerian ducts syndromeAMH
Persistent Mullerian ducts syndromeAMHR2
Megablastic anaemiaAMN
Adenosine monophosphate deaminase deficiencyAMPD1
Adenosine monophosphate deaminase deficiencyAMPD3
Hyperglycinaemia, non-ketoticAMT
Amyotrophic lateral sclerosisANG
SpherocytosisANK1
Cardiac arrhythmiaANK2
Long QT syndromeANK2
Chondrocalcinosis 2ANKH
Craniometaphyseal dysplasiaANKH
Cerebral palsyANKRD15
Hyalinosis, infantile systemicANTXR2
Fibromatosis, juvenile hyalineANTXR2
Hermansky-Pudlak syndromeAP3B1
Desmoid tumoursAPC
Adenomatous polyposis coli, attenuatedAPC
Thyroid cancerAPC
Adenomatous polyposis coli and CHRPEAPC
Adenomatous polyposis coliAPC
Colorectal cancerAPC
Atherosclerosis with coronary artery diseaseAPOA1
HDL deficiencyAPOA1
Amyloidosis, cardiac and cutaneousAPOA1
HypoalphalipoproteinaemiaAPOA1
Amyloidotic polyneuropathyAPOA1
HDL deficiency with periorbital xanthelasmasAPOA1
Amyloidosis, cardiac and systemicAPOA1
AmyloidosisAPOA1
Apolipoprotein A1 deficiencyAPOA1
Amyloidosis, hepatic and systemicAPOA1
Apolipoprotein A2 deficiencyAPOA2
ArteriosclerosisAPOA4
HyperlipidaemiaAPOA4
HypertriglyceridaemiaAPOA5
Apolipoprotein B deficiencyAPOB
HypobetalipoproteinaemiaAPOB
HypercholesterolaemiaAPOB
HypocholesterolaemiaAPOB
Apolipoprotein C2 deficiencyAPOC2
Chylomicronemia syndromeAPOC2
Apolipoprotein C3 deficiencyAPOC3
HypertriglyceridaemiaAPOE
Diabetes mellitus, type 2APOE
Hyperlipoproteinaemia IIIAPOE
HyperlipoproteinaemiaAPOE
Hyperlipidaemia 3APOE
HyperlipidaemiaAPOE
SplenomegalyAPOE
HypertensionAPOE
Lipoprotein glomerulopathyAPOE
Apolipoprotein E deficiencyAPOE
Alzheimer disease with cerebral amyloid angiopathyAPP
Cerebral haemorrhageAPP
Cerebral amyloid angiopathyAPP
SchizophreniaAPP
Alzheimer diseaseAPP
Adenine phosphoribosyltransferase deficiencyAPRT
Ataxia-ocular apraxia 1APTX
Channel-forming integral protein deficiencyAQP1
Diabetes insipidus, nephrogenicAQP2
Aquaporin 3 deficiencyAQP3
Infertility, idiopathicAR
Defective spermatogenesisAR
Androgen insensitivity syndrome & Leydig cell hyperplasiaAR
Breast cancer, maleAR
HypospadiasAR
Androgen insensitivity syndromeAR
Prostate cancerAR
Pseudohermaphroditism, maleAR
Infertility, maleAR
Spino-bulbar muscular atrophy (Kennedy disease)AR
Reifenstein syndromeAR
Periventricular heterotopia with microcephalyARFGEF2
ArgininaemiaARG1
HyperargininaemiaARG1
Arginase deficiencyARG1
Slowed nerve conduction velocitiesARHGEF10
Mental retardation, X-linkedARHGEF6
Bardet-Biedl syndromeARL6
Metachromatic leukodystrophyARSA
Mucopolysaccharidosis VIARSB
Chondrodysplasia punctataARSE
Brachytelephalangic dwarfismARSE
Chondrodysplasia punctata, X-linkedARSE
Mental retardation and epilepsyARX
Lissencephaly, X-linked, with abnormal genitaliaARX
Infantile spasm syndrome, X-linkedARX
ACC, epilepsy, abnormal genitaliaARX
Mental retardationARX
ACC, lissencephaly, seizures & genital hypoplasiaARX
Farber diseaseASAH1
Central hypoventilation syndromeASCL1
Argininosuccinate lyase deficiency, variantASL
Argininosuccinate lyase deficiencyASL
Incr. N-acetylaspartic acid excr. and macrocephalyASPA
Canavan diseaseASPA
Primary microcephalyASPM
CitrullinaemiaASS1
Polycystic kidney disease 1ASS1
Cerebellar ataxia, Cayman typeATCAY
AICA-RibosiduriaATIC
Mantle cell lymphomaATM
Acute lymphoblastic leukaemiaATM
Ataxia telangiectasiaATM
Breast cancer, susceptibility toATM
Multiple cancersATM
Dentatorubro-pallidoluysian atrophy (Haw river)ATN1
Angelman syndromeATP10A
Specific language impairmentATP13A4
MigraineATP1A2
Hemiplegic migraine 2ATP1A2
Dystonia 12ATP1A3
Brody myopathyATP2A1
Acrokeratosis verruciformisATP2A2
Darier diseaseATP2A2
Diabetes, type 2ATP2A3
Hailey-Hailey diseaseATP2C1
Mental retardation and epilepsy, X-linkedATP6AP2
Distal renal tubular acidosis, autosomal recessiveATP6V0A4
Renal tubular acidosis, sensorineural deafnessATP6V1B1
Osteopetrosis with distal RTAATP6V1B1
Menkes syndromeATP7A
Occipital horn syndromeATP7A
Wilson diseaseATP7B
Intrahepatic cholestasis, benign recurrentATP8B1
Intrahepatic cholestasis of pregnancyATP8B1
Intrahepatic cholestasis, Greenland typeATP8B1
Intrahepatic cholestasis, familial progressiveATP8B1
Complex V deficiencyATPAF2
Seckel syndromeATR
ATRX syndrome, atypicalATRX
Carpenter-Waziri syndromeATRX
ATRX syndromeATRX
Juberg-Marsidi syndromeATRX
Mental retardation without alpha thalassaemiaATRX
Mental retardation and spastic paraplegiaATRX
Spinocerebellar ataxia 1ATXN1
Spinocerebellar ataxia 10ATXN10
Spinocerebellar ataxia 2ATXN2
Machado-Joseph diseaseATXN3
Spinocerebellar ataxia 7ATXN7
Spinocerebellar ataxia 8ATXN8OS
3-methylglutaconic aciduria type 1AUH
AutismAUTS2
Diabetes insipidus, neurohypophysealAVP
Diabetes insipidus, centralAVP
Diabetes insipidus, nephrogenicAVPR2
Colorectal adenomaAXIN1
Colorectal cancerAXIN2
Tooth agenesis and colorectal cancerAXIN2
AzoospermiaAZF1
Hypercatabolic hypoproteinaemia, familialB2M
B3GALNT1 deficiency (P1K phenotype)B3GALNT1
B3GALNT1 deficiency (P2K phenotype)B3GALNT1
Congenital disorder of glycosylation 2dB4GALT1
Ehlers-Danlos syndrome, progeroid typeB4GALT7
HypercholanaemiaBAAT
Breast and/or ovarian cancerBARD1
Breast cancerBARD1
Ovarian cancerBARD1
Bardet-Biedl syndromeBBS1
Bardet-Biedl syndromeBBS10
Bardet-Biedl syndromeBBS2
Bardet-Biedl syndromeBBS4
Bardet-Biedl syndromeBBS5
Bardet-Biedl syndromeBBS7
Bardet-Biedl syndromeBBS9
Butyrylcholinesterase deficiencyBCHE
AcholinesterasaemiaBCHE
HypocholinesterasaemiaBCHE
CholinesterasaemiaBCHE
Serum cholinesterase deficiencyBCHE
Maple syrup urine diseaseBCKDHA
Maple syrup urine diseaseBCKDHB
Oculofaciocardiodental syndromeBCOR
Microphthalmia with associated anomaliesBCOR
Complex 3 deficiencyBCS1L
GRACILE syndromeBCS1L
Adult vitelliform maculopathyBEST1
Nanophthalmos and retinal dystrophyBEST1
Macular degeneration, age relatedBEST1
Leber congenital amaurosisBEST1
Adult vitelliform macular dystrophyBEST1
"Bulls eye" maculopathyBEST1
Best macular dystrophyBEST1
Congenital cataractBFSP2
Cataract, progressive, juvenile onsetBFSP2
Bloom syndromeBLM
HypogammaglobulinaemiaBLNK
Hermansky-Pudlak syndromeBLOC1S3
Premature ovarian failureBMP15
Premature ovarian failure & amenorrhoeaBMP15
Polyposis, juvenile intestinalBMPR1A
Mixed polyposis syndromeBMPR1A
Juvenile polyposis syndromeBMPR1A
Multiple adenomaBMPR1A
Cowden / Bannayan-Riley-Ruvalcaba syndromesBMPR1A
Brachydactyly type A2BMPR1B
Acromesomelic chondrodysplasia, genital anomaliesBMPR1B
Pulmonary hypertension, primaryBMPR2
Bisphosphoglycerate mutase deficiencyBPGM
Cardio-facio-cutaneous syndromeBRAF
Ovarian cancerBRCA1
Breast and/or ovarian cancerBRCA1
Breast and colorectal cancerBRCA1
Neuronal migration defectBRCA1
Breast cancerBRCA1
Prostate cancerBRCA1
Fanconi anaemia D1BRCA2
Prostate cancerBRCA2
Fanconi anaemiaBRCA2
Liver cancerBRCA2
Breast cancer, maleBRCA2
Fallopian tube cancerBRCA2
Breast and/or ovarian cancerBRCA2
Ductal carcinoma in situBRCA2
Ocular melanomaBRCA2
Ovarian cancerBRCA2
Pancreatic cancerBRCA2
Breast cancerBRCA2
Breast cancerBRIP1
Fanconi anaemiaBRIP1
Spinal muscular atrophy, distalBSCL2
Berardinelli-Seip lipodystrophyBSCL2
Bartter syndrome with sensorineural deafnessBSND
Biotinidase deficiencyBTD
Biotinidase deficiency, partialBTD
AgammaglobulinaemiaBTK
Hyper-IgM syndromeBTK
Mosaic variegated aneuploidyBUB1B
Premature chromatid separation syndromeBUB1B
Progressive external ophthalmoplegiaC10orf2
Spirocerebellar ataxia, infantile onsetC10orf2
C1Q deficiency, type AC1QA
C1Q deficiency, type BC1QB
C1Q deficiency, type CC1QC
Retinal degeneration, late-onsetC1QTNF5
Complement C1S deficiencyC1S
Complement C2 deficiencyC2
Complement C3 deficiencyC3
Complement C4a deficiencyC4A
Complement C4b deficiencyC4B
Systemic lupus erythematosusC4B
Complement C5 deficiencyC5
Complement C6 deficiency, subtotalC6
Complement C6 deficiencyC6
Complement C7 deficiencyC7
Trichothiodystrophy, nonphotosensitiveC7orf11
Complement C8 alpha-gamma deficiencyC8A
Complement C8b deficiencyC8B
Complement C9 deficiencyC9
Carbonic anhydrase deficiencyCA1
Carbonic anhydrase deficiencyCA2
Neurofibromatosis 2cabin1
Schwannomatosiscabin1
Night blindness, autosomal recessiveCABP4
Hemiplegic migraine and ataxiaCACNA1A
Spinocerebellar ataxia 6CACNA1A
Hemiplegic migraine and episodic ataxia 2CACNA1A
Hemiplegic migraine, progressive cerebellar ataxiaCACNA1A
Episodic ataxiaCACNA1A
Episodic ataxia 2CACNA1A
Hemiplegic migraine, coma, cerebellar atrophyCACNA1A
Hemiplegic migraine with cerebellar signsCACNA1A
Hemiplegic migraineCACNA1A
Timothy syndromeCACNA1C
Night blindness, congenital stationary, incompleteCACNA1F
Cone-rod dystrophy, X-linkedCACNA1F
Retinal disorder, X-linkedCACNA1F
Epilepsy, childhood absenceCACNA1H
Hypokalaemic periodic paralysisCACNA1S
Malignant hyperthermiaCACNA1S
Idiopathic epilepsy, generalisedCACNB4
Myoclonic epilepsy, juvenileCACNB4
SchizophreniaCACNG2
OsteoporosisCALCA
SchizophreniaCALR
Idiopathic eosinophilic myositisCAPN3
Muscular dystrophy, limb girdleCAPN3
Myopathy with lobulated muscle fibresCAPN3
Obesity, severeCARTPT
Autoimmune lymphoproliferative syndrome IICASP10
Caspase 8 deficiencyCASP8
Ventricular tachycardia, polymorphicCASQ2
HyperparathyroidismCASR
Hypocalcaemia with hypercalciuriaCASR
Hypercalcaemia, hypocalciuric & hyperparathyroidismCASR
Hypercalcaemia, hypocalciuricCASR
Hypercalcaemia, hypocalciuric & hypoparathyroidismCASR
HypoparathyroidismCASR
HypocalcaemiaCASR
Hypercalcaemia and hypercalciuriaCASR
AcatalasaemiaCAT
Diabetes mellitus, type 2CAT
Asthenoteratozoospermia & deafness, non-syndromicCATSPER2
MyopathyCAV3
Isolated hyperCKaemiaCAV3
Muscular dystrophy, limb girdleCAV3
Rippling muscle diseaseCAV3
Hypertrophic cardiomyopathyCAV3
Various skeletal abnormalitiesCBFB
HomocystinuriaCBS
Mental retardation, non-syndromicCC2D1A
Cerebral cavernous malformationsCCM2
Mutilating sensory neuropathy with sp. paraplegiaCCT5
nb1 deficiencyCD177
HypogammaglobulinemiaCD19
Birbeck granules deficiencyCD207
Immunodeficiency, T-cell defectCD247
Glomerulosclerosis, focal segmentalCD2AP
Platelet glycoprotein IV deficiencyCD36
CD36 deficiencyCD36
Immunodeficiency, severe combinedCD3D
ImmunodeficiencyCD3E
ImmunodeficiencyCD3G
Hyper-IgM syndromeCD40
HypogammaglobulinaemiaCD40LG
Hyper-IgM syndromeCD40LG
Haemolytic uraemic syndromeCD46
CD59 deficiencyCD59
AgammaglobulinaemiaCD79A
CD8 deficiencyCD8A
Congenital dysorythropoietic anaemia type 1CDAN1
Hyperparathyroidism, isolatedCDC73
Hyperparathyroidism-jaw tumour syndromeCDC73
Parathyroid cancerCDC73
Gastric cancerCDH1
Breast cancerCDH1
Prostate cancerCDH1
Usher syndrome 1dCDH23
Non-syndromic autosomal recessive deafnessCDH23
Hypotrichosis with juvenile macular dystrophyCDH3
EEM syndromeCDH3
MelanomaCDK4
Rett syndrome, variant, with infantile spasmsCDKL5
Mental retardation and epilepsyCDKL5
Rett syndrome, atypicalCDKL5
Acute lymphoblastic leukaemiaCDKN1B
Myeloproliferative syndromeCDKN1B
Beckwith-Wiedemann syndromeCDKN1C
Melanoma/Pancreatic cancerCDKN2A
MelanomaCDKN2A
Squamous cell carcinoma, head and neckCDKN2A
Oesophageal tumoursCDKN2A
SarcomaCDKN2A
Melanoma / nervous system tumoursCDKN2A
Renal cancerCDKN2A
Pancreatic cancerCDKN2A
Renal cancerCDKN2B
Hypotrichosis simplex of the scalpCDSN
Acute myeloid leukaemiaCEBPA
Neutrophil-specific granule deficiencyCEBPE
Diabetes & pancreatic exocrine dysfunctionCEL
Joubert syndromeCEP290
Leber congenital amaurosisCEP290
Retinitis pigmentosaCERKL
Cholesterol ester transfer protein deficiencyCETP
HyperalphalipoproteinaemiaCETP
Dextro-looped TGACFC1
Left-right lateral defectCFC1
Left-right laterality defectCFC1
Factor D deficiencyCFD
Haemolytic uraemic syndrome, atypicalCFH
Membranoproliferative glomerulonephritisCFH
Factor H deficiencyCFH
Haemolytic uraemic syndromeCFH
Haemolytic uraemic syndromeCFI
Complement factor I deficiencyCFI
Properdin deficiencyCFP
Respiratory symptoms of cystic fibrosisCFTR
Sarcoidosis, susceptibility toCFTR
Congenital absence of vas deferensCFTR
Elevated sweat chloride concentrationCFTR
Primary sclerosing cholangitisCFTR
Foetal hyperechogenic bowelCFTR
Pancreatitis, idiopathicCFTR
AsthmaCFTR
Hypertrypsinaemia, neonatalCFTR
Hypertrypsinaemia, low sweat chlorideCFTR
Pancreatitis, hereditaryCFTR
BronchiectasisCFTR
Cystic fibrosisCFTR
Hypochloraemic alkalosisCFTR
Bronchiectasis, idiopathicCFTR
Obstructive azoospermiaCFTR
Congenital myasthenic syndrome with episodic apneaCHAT
CHARGE syndromeCHD7
Li-Fraumeni syndromeCHEK2
Multiple cancersCHEK2
Prostate cancerCHEK2
Breast cancerCHEK2
Mental retardationCHL1
ChoroideraemiaCHM
Frontotemporal dementiaCHMP2B
Congenital myasthenic syndromeCHRNA1
Fast channel myasthenic syndromeCHRNA1
Slow channel myasthenic syndromeCHRNA1
Epilepsy, with nocturnal wandering and ictal fearCHRNA2
Epilepsy, nocturnal frontal lobeCHRNA4
Slow channel myasthenic syndromeCHRNB1
Congenital myasthenic syndromeCHRNB1
Epilepsy, nocturnal frontal lobeCHRNB2
Epilepsy, nocturnal frontal lobe & distinct memory deficitsCHRNB2
Slow channel myasthenic syndromeCHRND
Fast channel myasthenic syndromeCHRND
Congenital myasthenic syndromeCHRND
Fast channel myasthenic syndromeCHRNE
Congenital myasthenic syndromeCHRNE
Slow channel myasthenic syndromeCHRNE
Pterygium syndromeCHRNG
Spondyloepiphyseal dysplasia, Omani typeCHST3
Macular corneal dystrophy, type 2CHST6
Macular corneal dystrophy, type 1CHST6
MicrophthalmiaCHX10
Microphthalmia, cataract and iris abnormalityCHX10
Bare lymphocyte syndrome, complementation group ACIITA
ImmunodeficiencyCIITA
North American Indian childhood cirrhosisCIRH1A
Congenital heart defectsCITED2
Muscle creatine kinase deficiencyCKM
Myotonia leviorCLCN1
Myotonia congenitaCLCN1
Myotonia, generalisedCLCN1
MyotoniaCLCN1
Myotonia, BeckerCLCN1
Idiopathic epilepsy, generalisedCLCN2
Dent diseaseCLCN5
Low molecular weight proteinuriaCLCN5
Rickets, hypophosphataemicCLCN5
Nephrolithiasis, hypercalciuricCLCN5
Dent (Japan) diseaseCLCN5
Osteopetrosis, autosomal recessive, intermediateCLCN7
Infantile malignant osteopetrosisCLCN7
Osteopetrosis, autosomal dominant, Type 2CLCN7
Bartter syndrome 3CLCNKB
Ichthyosis, alopecia, and sclerosing cholangitisCLDN1
Deafness, autosomal recessiveCLDN14
Hypomagnesemia with hypercalciuria and nephrocalcinosisCLDN16
Hypomagnesemia hypercalciuria syndromeCLDN16
HypercalciuriaCLDN16
Mental retardation, ataxia & atrophy of the brainCLK2
Neuronal ceroid lipofuscinosis, protractedCLN3
Neuronal ceroid lipofuscinosis, juvenileCLN3
Neuronal ceroid lipofuscinosis, late infantileCLN5
Neuronal ceroid lipofuscinosis, juvenileCLN5
Neuronal ceroid lipofuscinosis, late infantileCLN6
Neuronal ceroid lipofuscinosis, late infantileCLN8
Epilepsy, progressive with mental retardationCLN8
Cleft lip and palateCLPTM1
Usher syndrome 3aCLRN1
DiGeorge syndrome/ velocardialfacial syndromeCLTCL1
Myotonic dystrophyCNBP
Retinitis pigmentosaCNGA1
Colour-blindness, totalCNGA3
AchromatopsiaCNGA3
Retinitis pigmentosaCNGB1
AchromatopsiaCNGB3
Progressive cone dystrophyCNGB3
Macular degeneration, juvenileCNGB3
Ciliary neurotrophic factor deficiencyCNTF
Features of 3p deletion syndromeCNTN4
Cortical dysplasia-focal epilepsy syndromeCNTNAP2
Deafness, non-syndromic, autosomal dominantCOCH
Progressive hearing lossCOCH
Congenital disorder of glycosylationCOG7
Metaphyseal chondrodysplasia, SchmidCOL10A1
Marshall / Stickler syndromeCOL11A1
Marshall syndromeCOL11A1
Osteoarthritis, early-onsetCOL11A1
Stickler syndromeCOL11A1
Robin sequenceCOL11A2
Weissenbacher-Zweymuller syndromeCOL11A2
Osteoarthritis, early-onsetCOL11A2
Otospondylomegaepiphyseal dysplasiaCOL11A2
Non-syndromic hearing loss, autosomal recessiveCOL11A2
Stickler syndrome IICOL11A2
OsteochondrodysplasiaCOL11A2
Stickler syndrome, without eye involvementCOL11A2
Deafness, autosomal dominant 13COL11A2
MicrognathiaCOL11A2
Epidermolysis bullosa, atrophic benignCOL17A1
Epidermolysis bullosaCOL17A1
Epidermolysis bullosa, junctionalCOL17A1
Epidermolysis bullosa, HerlitzCOL17A1
Knobloch syndromeCOL18A1
Osteogenesis imperfecta IICOL1A1
Osteogenesis imperfectaCOL1A1
Ehlers-Danlos syndromeCOL1A1
Ehlers-Danlos syndrome VIICOL1A1
Osteogenesis imperfecta IIACOL1A1
Osteogenesis imperfecta III/IVCOL1A1
Osteogenesis imperfecta IIICOL1A1
Osteogenesis imperfecta ICOL1A1
Dentinogenesis imperfectaCOL1A1
Cervical artery dissectionCOL1A1
Connective tissue weaknessCOL1A1
Osteogenesis imperfecta IVCOL1A1
Caffey diseaseCOL1A1
Osteogenesis imperfecta IIcCOL1A1
Ehlers-Danlos syndrome/Osteogenesis imperfectaCOL1A1
Low bone densityCOL1A1
Osteogenesis imperfectaCOL1A2
Osteogenesis imperfecta IVCOL1A2
Osteoporosis, juvenileCOL1A2
Ehlers-Danlos syndrome VIICOL1A2
Osteogenesis imperfecta IIICOL1A2
Ehlers-Danlos syndrome/Osteogenesis imperfectaCOL1A2
OsteoporosisCOL1A2
Osteogenesis imperfecta ICOL1A2
Ehlers-Danlos syndrome, hypermobileCOL1A2
Osteogenesis imperfecta IbCOL1A2
Osteogenesis imperfecta IICOL1A2
Osteogenesis imperfecta III/IVCOL1A2
Avascular necrosis of the femur headCOL2A1
OsteoarthritisCOL2A1
ArthroophthalmopathyCOL2A1
Spondyloepimetaphyseal dysplasia, StrudwickCOL2A1
Wagner's vitreoretinal degenerationCOL2A1
Spondyloepiphyseal dysplasiaCOL2A1
SpondylarthopathyCOL2A1
Vitreoretinopathy with phalang. epiphys. DysplasiaCOL2A1
Platyspondylic skeletal dysplasia, TorranceCOL2A1
Rhegmatogenous retinal detachmentCOL2A1
OsteochondrodysplasiaCOL2A1
Achondrogenesis 2COL2A1
Stickler syndromeCOL2A1
Spondyloepiphyseal dysplasia congenitaCOL2A1
Spondyloepimetaphyseal dysplasia congenitaCOL2A1
Short-limbed dwarfismCOL2A1
Spondylarthopathy with brachydactylyCOL2A1
Otospondylomegaepiphyseal dysplasiaCOL2A1
HypochondrogenesisCOL2A1
Achondrogenesis II-hypochondrogenesisCOL2A1
Spondyloperipheral dysplasiaCOL2A1
Kniest dysplasiaCOL2A1
Acrogeria, GottronCOL3A1
Ehlers-Danlos syndrome IIICOL3A1
Aortic aneurysmCOL3A1
Ehlers-Danlos syndrome IVCOL3A1
Porencephaly, familialCOL4A1
Benign haematuriaCOL4A3
Alport syndromeCOL4A3
HaematuriaCOL4A3
Microhaematuria and proteinuriaCOL4A3
Benign haematuriaCOL4A4
Alport syndromeCOL4A4
Thin basement membrane diseaseCOL4A4
Microhaematuria and proteinuriaCOL4A4
Macroscopic haematuria with microhaematuriaCOL4A4
Alport syndrome, diffuse leiomyomatosisCOL4A5
Alport syndromeCOL4A5
Ehlers-Danlos syndromeCOL5A1
Ehlers-Danlos syndrome IICOL5A1
Ehlers-Danlos syndrome ICOL5A1
Ehlers-Danlos syndromeCOL5A2
Ehlers-Danlos syndrome IICOL5A2
Ehlers-Danlos syndrome ICOL5A2
Spontaneous cervical artery dissectionsCOL5A2
Bethlem myopathyCOL6A1
Ullrich congenital muscular dystrophyCOL6A1
Ullrich congenital muscular dystrophyCOL6A2
Bethlem myopathyCOL6A2
Ullrich congenital muscular dystrophyCOL6A3
Bethlem myopathyCOL6A3
Bart syndromeCOL7A1
Epidermolysis bullosa dystrophicaCOL7A1
Transient bullous dermolysisCOL7A1
Epidermolysis bullosaCOL7A1
Epidermolysis bullosa pruriginosaCOL7A1
Fuchs corneal dystrophyCOL8A2
Multiple epiphyseal dysplasiaCOL9A1
Stickler syndrome, autosomal recessiveCOL9A1
Lumbar stenosisCOL9A2
Multiple epiphyseal dysplasiaCOL9A2
Hearing loss, non-syndromicCOL9A3
Multiple epiphyseal dysplasiaCOL9A3
Endplate acetylcholinesterase deficiencyCOLQ
Multiple epiphyseal dysplasiaCOMP
PseudoachondroplasiaCOMP
Coenzyme Q10 deficiencyCOQ2
Cytochrome c oxidase deficiencyCOX10
Cytochrome c oxidase deficiencyCOX15
Hypertrophic cardiomyopathy, early onsetCOX15
AceruloplasminaemiaCP
Multiple sytem atrophyCP
Aceruloplasminaemia with parkinsonismCP
Aceruloplasminaemia with diabetesCP
Duane retraction syndrome 1CPA6
Carboxypeptidase N deficiencyCPN1
HarderoporphyriaCPOX
CoproporphyriaCPOX
Carbamoyl phosphate synthetase I deficiencyCPS1
Carnitine palmitoyltransferase 1 deficiencyCPT1A
Carnitine palmitoyltransferase 2 deficiencyCPT2
Retinitis pigmentosaCRB1
Leber congenital amaurosisCRB1
Pigmented paravenous chorioretinal atrophyCRB1
Retinitis pigmentosa 12CRB1
Mental retardationCRBN
Rubinstein-Taybi syndromeCREBBP
Ovarian cancerCREBBP
Cardiac atrioventricular septal defectCRELD1
Cold Induced Sweating SyndromeCRLF1
Leber congenital amaurosisCRX
Retinitis pigmentosaCRX
Cone-rod dystrophyCRX
Congenital cataractCRYAA
Posterior polar cataractCRYAB
Cardiomyopathy, dilatedCRYAB
Myopathy, myofibrillarCRYAB
Myopathy, desmin relatedCRYAB
Cataract, zonular with sutural opacitiesCRYBA1
Cataract, autosomal dominantCRYBA1
Cataract, lamellarCRYBA4
MicrophthalmiaCRYBA4
Cataract, autosomal dominantCRYBB1
Cataract & microcorneaCRYBB1
Cerulean cataractCRYBB2
Cataract, autosomal dominantCRYBB2
Cataract, central nuclearCRYBB2
Cataract, autosomal recessiveCRYBB3
Cataract, coppock-likeCRYGC
CataractCRYGC
Cataract, zonular pulverulentCRYGC
Cataract, aculeiformCRYGD
Cataract, with protein crystallisationCRYGD
CataractCRYGD
Punctate cataract, juvenile progressiveCRYGD
Progressive cortical cataract, autosomal dominantCRYGS
Nonsyndromic deafnessCRYM
Pulmonary alveolar proteinosisCSF2
Pulmonary alveolar proteinosisCSF2RB
NeutropaeniaCSF3R
Chorionic somatomammotropin deficiency, partialCSH1
Silver-Russell syndromeCSH1
Chorionic somatomammotropin deficiencyCSH1
Familial advanced sleep phase syndromeCSNK1D
Cardiomyopathy, hypertrophicCSRP3
Cardiomyopathy, dilatedCSRP3
AmyloidangiopathyCST3
Epilepsy, progressive myoclonusCSTB
Cataracts, facial dysmorphism, neuropathyCTDP1
Cardiomyopathy, dilatedCTF1
CystathioninuriaCTH
Cystinosis, late onsetCTNS
Cystinosis, nephropathicCTNS
Cystinosis, non-classicalCTNS
Cystinosis, intermediateCTNS
Cystinosis, benignCTNS
CystinosisCTNS
GalactosialidosisCTSA
Periodontitis, juvenileCTSC
Papillon-Lefevre syndromeCTSC
Haim-Munk syndromeCTSC
Cathepsin D deficiencyCTSD
PycnodysostosisCTSK
Megaloblastic anaemiaCUBN
3-M syndromeCUL7
WHIM syndromeCXCR4
Methaemoglobinaemia 4CYB5A
Methaemoglobinaemia 1CYB5R3
Methaemoglobinaemia 2CYB5R3
MethaemoglobinaemiaCYB5R3
Methaemoglobinaemia 3CYB5R3
Chronic granulomatous diseaseCYBA
Chronic granulomatous diseaseCYBB
Primary immunodeficiency diseaseCYBB
Iron overloadCYBRD1
Trichoepithelioma, multiple familialCYLD
CylindromatosisCYLD
Brooke-Spiegler syndromeCYLD
XY sex reversal and adrenal insufficiencyCYP11A1
Adrenal insufficiencyCYP11A1
Adrenal hyperplasiaCYP11B1
HypoaldosteronismCYP11B1
Steroid-11 beta-hydroxylase deficiencyCYP11B1
Aldosterone synthase deficiencyCYP11B2
Corticosterone methyl oxidase deficiencyCYP11B2
HypoaldosteronismCYP11B2
Aldosterone synthase deficiency, type 2CYP11B2
17,20-lyase deficiencyCYP17A1
PseudohermaphroditismCYP17A1
Steroid-17 alpha-hydroxylase deficiencyCYP17A1
17-alpha-hydroxylase/17,20-lyase deficiencyCYP17A1
Aromatase deficiencyCYP19A1
Oestrogen excessCYP19A1
Peters' anomalyCYP1B1
Glaucoma, primary open angleCYP1B1
Glaucoma, primary congenitalCYP1B1
Non-classic 21-hydroxylase deficiencyCYP21A2
HyperandrogenismCYP21A2
Adrenal hyperplasiaCYP21A2
Cerebrotendinous xanthomatosis, with parkinsonismCYP27A1
Cerebrotendinous xanthomatosisCYP27A1
Pseudovitamin D-deficiency ricketsCYP27B1
Rhabdomyolysis after cerivastatin treatmentCYP2C8
Impaired diclofenac metabolismCYP2C9
Cytochrome P450 deficiencyCYP2D6
Lamellar ichthyosis with hyperlinearity of palms & solesCYP4F22
Bietti crystalline corneoretinal dystrophyCYP4V2
HypercholesterolaemiaCYP7A1
Cholestasis, severeCYP7B1
D-2-hydroxyglutaric aciduriaD2HGDH
OligozoospermiaDAZ1
OligozoospermiaDAZ2
Norepinephrine deficiencyDBH
Dopamine beta hydroxylase deficiencyDBH
Maple syrup urine diseaseDBT
Maple syrup urine disease 2DBT
Omenn syndromeDCLRE1C
Immunodeficiency, severe combinedDCLRE1C
Congenital stromal dystrophyDCN
Motor neuron disease, lowerDCTN1
Amyotrophic lateral sclerosisDCTN1
Amyotrophic lateral sclerosis & dementiaDCTN1
Lissencephaly syndrome, X linkedDCX
Resistant partial seizuresDCX
Subcortical band heterotopiaDCX
Double cortex syndromeDCX
Xeroderma pigmentosum (E)DDB2
Infertility, idiopathicDDX3Y
Cardiomyopathy, hypertrophicDES
Cardiomyopathy, dilatedDES
Myopathy, desmin relatedDES
Deafness, non-syndromic, autosomal dominantDFNA5
Deafness, autosomal recessiveDFNB31
Auditory neuropathyDFNB59
DiGeorge syndromeDGCR5
Mitochondrial DNA depletion syndromeDGUOK
DesmosterolosisDHCR24
Smith-Lemli-Opitz syndromeDHCR7
HoloprosencephalyDHCR7
Gonadal dysgenesis, completeDHH
Gonadal dysgenesis, partialDHH
Deafness, non-syndromic, autosomal dominant 1DIAPH1
Premature ovarian failureDIAPH2
Renal cell cancerDIRC3
SchizophreniaDISC1
Hoyeraal-Hreidarsson syndromeDKC1
Dyskeratosis congenitaDKC1
Dyskeratosis congenita with Hoyeraal-Hreidarsson syndromeDKC1
Dyskeratosis congenita, X-linkedDKC1
Pyruvate dehydrogenase deficiencyDLAT
Dihydrolipoyl dehydrogenase deficiencyDLD
Dihydrolipoamide dehydrogenase deficiencyDLD
Mental retardationDLG3
Spondylocostal dysostosisDLL3
Trichodentoosseous syndromeDLX3
Amelogenesis imperfecta with taurodontismDLX3
Muscular dystrophy, Duchenne/BeckerDMD
Cardiomyopathy, dilatedDMD
Muscular dystrophy, BeckerDMD
Muscular dystrophy, atypicalDMD
DystrophinopathyDMD
Muscular dystrophy, intermediateDMD
Muscular dystrophy, DuchenneDMD
Dimethylglycine dehydrogenase deficiencyDMGDH
Cardiomyopathy, dilatedDMN
Myotonic dystrophyDMPK
Primary ciliary dyskinesia and situs inversusDNAH11
Primary ciliary dyskinesiaDNAH5
Ciliary dyskinesia, primaryDNAI1
Kartagener syndromeDNAI1
Dilated cardiomyopathy with ataxia syndromeDNAJC19
Systemic lupus erythematosusDNASE1
Centronuclear myopathyDNM2
Charcot-Marie-Tooth diseaseDNM2
Chromosome instability and immunodeficiencyDNMT3B
Attention deficit hyperactivity disorderDOCK3
Congenital disorder of glycosylation 1jDPAGT1
Congenital disorder of glycosylation 1eDPM1
Dihydropyrimidine dehydrogenase deficiencyDPYD
Dihydropyrimidine dehydrogenase deficiency, partialDPYD
Dihydropyramidinase deficiencyDPYS
Myoclonus dystoniaDRD2
Autonomic nervous system dysfunctionDRD4
Striate palmoplantar keratodermaDSG1
Cardiomyopathy, arrhythmogenic right ventricularDSG2
MonilethrixDSG4
HypotrichosisDSG4
Striate palmoplantar keratodermaDSP
Cardiomyopathy, arrhythmogenic right ventricularDSP
Epidermolysis bullosa, lethal acantholyticDSP
Skin fragility and woolly hairDSP
Dilated cardiomyopathy, woolly hair, keratodermaDSP
Cardiomyopathy, arrhythmogenic left ventricularDSP
Dentine dysplasia type IIDSPP
Dentinogenesis imperfecta type IIDSPP
Dentinogenesis imperfecta type IIIDSPP
Dentinogenesis imperfecta Shields type IIDSPP
Dentinogenesis imperfecta type IDSPP
Oesophageal atresia and psychomotor retardationDST
Left ventricular noncompaction with CHDDTNA
Hermansky-Pudlak syndromeDTNBP1
Iodide organification defectDUOX2
HypothyroidismDUOX2
Dyggve-Melchior-Clausen syndromeDYM
Smith-McCort dysplasiaDYM
Muscular dystrophy, limb girdle 2BDYSF
Muscular dystrophyDYSF
Muscular dystrophy, limb girdleDYSF
Miyoshi myopathyDYSF
Muscular dystrophy, limb girdle/Miyoshi myopathyDYSF
DysferlinopathyDYSF
HyperCKemiaDYSF
DyslexiaDYX1
Chondrodysplasia punctata, X-linkedEBP
CHILD syndromeEBP
Hirschsprung diseaseECE1
Lipoid proteinosisECM1
Ectodermal dysplasiaEDA
HypodontiaEDA
Hypohydrotic ectodermal dysplasiaEDAR
Ectodermal dysplasiaEDARADD
Waardenburg-Hirschsprung diseaseEDN3
Central hypoventilation syndromeEDN3
Shah-Waardenburg syndromeEDN3
Hirschsprung diseaseEDN3
Waardenburg-Hirschsprung diseaseEDNRB
ABCD syndromeEDNRB
Hirschsprung diseaseEDNRB
Malattia leventineseEFEMP1
Cutis laxa syndromeEFEMP2
Myoclonic epilepsy, juvenileEFHC1
Craniofrontonasal syndromeEFNB1
Lung cancer, susceptibility toEGFR
Dejerine-Sottas syndromeEGR2
Neuropathy, congenital hypomyelinatingEGR2
Charcot-Marie-Tooth disease 1EGR2
Mental retardationEHMT1
Wolcott-Rallison syndromeEIF2AK3
Leukoencephalopathy with vanishing white matterEIF2B1
Leukoencephalopathy with vanishing white matterEIF2B2
OvarioleukodystrophyEIF2B2
Leukoencephalopathy with vanishing white matterEIF2B3
Leukoencephalopathy with vanishing white matterEIF2B4
OvarioleukodystrophyEIF2B4
OvarioleukodystrophyEIF2B5
Leukoencephalopathy with vanishing white matterEIF2B5
Vanishing white matter disease & peripheral neuropathyEIF2B5
Neutropaenia, congenitalELA2
Neutropaenia, cyclicELA2
Prostate cancerELAC2
Mental retardation, X-linkedELK1
Supravalvular aortic stenosisELN
Supravalvular aortic stenosis in Williams-Beuren syndromeELN
Cutis laxaELN
Chronic obstructive pulmonary diseaseELN
Peripheral pulmonary artery stenosisELN
Stargardt disease 3 and macular dystrophyELOVL4
Muscular dystrophy, Emery-DreifussEMD
Conduction cardiomyopathyEMD
SchizencephalyEMX2
Amelogenesis imperfectaENAM
Polyposis, juvenileENG
Haemorrhagic telangiectasia 1ENG
Pulmonary hypertension, primaryENG
Beta-enolase deficiencyENO3
Myelopathy (OPLL)ENPP1
Idiopathic infantile arterial calcificationENPP1
Rubinstein-Taybi syndromeEP300
ElliptocytosisEPB41
SpherocytosisEPB42
Haemolytic anaemiaEPB42
Epilepsy, progressive myoclonusEPM2A
ErythrocytosisEPOR
PolycythaemiaEPOR
Eosinophil peroxidase deficiencyEPX
TrichothiodystrophyERCC2
Xeroderma pigmentosumERCC2
TrichothiodystrophyERCC3
Cockayne syndromeERCC3
Xeroderma pigmentosum (B)ERCC3
Xeroderma pigmentosum (F)ERCC4
Xeroderma pigmentosumERCC5
Cerebro-oculo-facio-skeletal syndromeERCC6
Cockayne syndromeERCC6
Cockayne syndromeERCC8
SC PhocomeliaESCO2
Roberts syndromeESCO2
Hearing loss, autosomal dominantESPN
Deafness and vestibular areflexiaESPN
Oestrogen resistanceESR1
Glutaricacidaemia 2aETFA
Electron transfer flavoprotein deficiencyETFA
Electron transfer flavoprotein deficiencyETFB
Glutaricacidaemia 2bETFB
Glutaricaciduria 2bETFB
Lipid storage myopathyETFDH
Glutaricacidaemia 2cETFDH
Encephalopathy, ethylmalonicETHE1
Weyers acrodental dysostosisEVC
Ellis-van Creveld syndromeEVC
Weyers acrofacial dysostosisEVC2
Ellis-van Creveld syndromeEVC2
Colorectal cancer, non-polyposisEXO1
ChondrosarcomaEXT1
Langer-Gideon syndromeEXT1
OsteochondromaEXT1
Multiple exostoses 1EXT1
Multiple exostosesEXT1
Multiple exostosesEXT2
OsteochondromaEXT2
Iris anomalyEYA1
Branchio-oto-renal / branchiootic syndromeEYA1
Oto-facio-cervical syndromeEYA1
Branchio-otic syndromeEYA1
Branchio-oto-renal syndromeEYA1
Peters' anomaly with cataractsEYA1
Late-onset deafnessEYA4
Dilated cardiomyopathy and sensorineural deafnessEYA4
Sensorineural deafnessEYA4
Factor X deficiencyF10
Factor XI deficiencyF11
Angioedema, hereditaryF12
Factor XII deficiencyF12
Factor XIII deficiencyF13A1
Factor XIII deficiencyF13B
HypoprothrombinaemiaF2
DysprothrombinaemiaF2
ThrombosisF2
Prothrombin deficiencyF2
Thrombosis, venousF2
Factor V deficiencyF5
ThrombosisF5
Factor VII deficiencyF7
Haemophilia AF8
Warfarin sensitivityF9
Haemophilia BF9
Tyrosinaemia 1FAH
Phenotype modifierFAH
Hypomyelination & congenital cataractFAM126A
Fanconi anaemiaFANCA
Fanconi anaemiaFANCB
T-cell acute lymphocytic leukaemiaFANCC
Fanconi anaemiaFANCC
Fanconi anaemiaFANCD2
Fanconi anaemiaFANCE
Fanconi anaemiaFANCF
Fanconi anaemiaFANCG
Fanconi anaemiaFANCL
Fanconi anaemiaFANCM
Autoimmune lymphoproliferative syndromeFAS
Canale-Smith syndromeFAS
Autoimmune hepatitis 2FAS
Lymphoproliferative disorderFAS
Autoimmune lymphoproliferative syndromeFASLG
Systemic lupus erythematosus, susceptibility toFASLG
Fechtner syndromeFBLN1
SynpolydactylyFBLN1
Age-related macular degenerationFBLN5
Cutis laxaFBLN5
KyphoscoliosisFBN1
Marfan syndromeFBN1
Weill-Marchesani syndromeFBN1
Aortic aneurysmFBN1
FibrillinopathyFBN1
Shprintzen-Goldberg syndromeFBN1
Ectopia lentisFBN1
Mitral valve prolapseFBN1
Contractural arachnodactylyFBN2
Fructose-1,6-bisphosphatase deficiencyFBP1
Split hand/foot malformation 3FBXW4
IgG receptor I, phagocytic, deficiencyFCGR1A
FCN2 deficiencyFCN2
Protoporphyria, erythropoieticFECH
Porphyria, erythropoieticFECH
ProtoporphyriaFECH
Kindler syndromeFERMT1
Amyloidosis, renalFGA
AfibrinogenaemiaFGA
ThrombosisFGA
HaemorrhagesFGA
HypofibrinogenaemiaFGA
DysfibrinogenaemiaFGA
AfibrinogenaemiaFGB
HaemorrhagesFGB
DysfibrinogenaemiaFGB
HypofibrinogenaemiaFGB
Thrombotic tendencyFGB
Attention deficit hyperactivity disorderFGD1
Aarskog-Scott syndromeFGD1
Mental retardation, X-linkedFGD1
Aplasia of lacrimal and salivary glandsFGF10
Lacrimo-auriculo-dento-digital syndromeFGF10
Cerebral ataxia, autosomal dominantFGF14
Tumoural calcinosis with hyperphosphataemiaFGF23
Rickets, hypophosphataemic, autosomal dominantFGF23
Pfeiffer syndromeFGFR1
Osteoglophonic dysplasiaFGFR1
Kallmann syndromeFGFR1
Non-syndromic trigonocephalyFGFR1
CraniosynostosisFGFR2
Beare-Stevenson cutis gyrata syndromeFGFR2
Lacrimo-auriculo-dento-digital syndromeFGFR2
Pfeiffer syndromeFGFR2
Saethre-Chotzen syndromeFGFR2
Jackson-Weiss syndromeFGFR2
Crouzon syndromeFGFR2
Apert syndromeFGFR2
Lacrimo-auriculo-dento-digital syndromeFGFR3
AchondroplasiaFGFR3
Crouzon syndromeFGFR3
Thanatophoric dysplasiaFGFR3
HypochondroplasiaFGFR3
Thanatophoric dwarfismFGFR3
CraniosynostosisFGFR3
Skeletal dysplasiaFGFR3
MenorrhagiaFGG
HypofibrinogenaemiaFGG
Epistaxis, recurrentFGG
DysfibrinogenaemiaFGG
AfibrinogenaemiaFGG
Leiomyomatosis and renal cell cancerFH
Multiple cutaneous and uterine leiomyoma syndromeFH
Multiple leiomyomatosisFH
Ovarian mucinous cystadenomaFH
LeiomyomatosisFH
Fumarase deficiencyFH
Deficiency in Williams-Beuren syndromeFKBP6
Muscular dystrophy, limb girdleFKRP
Muscular dystrophy, congenitalFKRP
Muscular dystrophy, FukuyamaFKTN
Walker-Warburg syndromeFKTN
Pneumothorax, primary spontaneousFLCN
Birt-Hogg-Dube syndromeFLCN
Ichthyosis vulgarisFLG
Otopalatodigital syndrome 1FLNA
Heterotopia, periventricularFLNA
Melnick-Needles syndromeFLNA
Otopalatodigital syndrome 2FLNA
Ehlers-Danlos syndrome & heterotopia, periventricularFLNA
Frontometaphyseal dysplasiaFLNA
Otopalatodigital-spectrum disorderFLNA
AtelosteogenesisFLNB
Spondylocarpotarsal syndromeFLNB
Boomerang dysplasiaFLNB
Larsen syndrome, autosomal dominantFLNB
Myopathy, myofibrillarFLNC
Cardiomyopathy, dilatedFLT1
Lymphoedema, primaryFLT4
TrimethylaminuriaFMO3
Fragile X mental retardation syndromeFMR1
Neural tube defectsFOLR1
Diabetes, early-onset, MODYFOXA2
Rieger anomaly, with glaucomaFOXC1
Congenital glaucomaFOXC1
Axenfeld-Rieger anomalyFOXC1
Axenfeld anomaly, with atrial septal defectFOXC1
Anterior segment defect, with glaucomaFOXC1
Axenfeld anomaly, with glaucomaFOXC1
Axenfeld anomalyFOXC1
Iris hypoplasiaFOXC1
Rieger anomalyFOXC1
Peter anolmalyFOXC1
Lymphoedema-distichiasisFOXC2
DistichiasisFOXC2
Thyroid agenesisFOXE1
Cleft palate, non-syndromicFOXE1
Aphakia, congenital, primaryFOXE3
Anterior segment ocular dysgenesis and cataractsFOXE3
Peters' anomalyFOXE3
Blepharophimosis/ptosis/epicanthus inversus syndromeFOXL2
Premature ovarian failureFOXL2
Congenital alopecia with T-cell immunodeficiencyFOXN1
Verbal dyspraxia, dysmorphism and devel. delayFOXP2
Developmental verbal dyspraxiaFOXP2
IPEX syndromeFOXP3
Fraser syndromeFRAS1
Fragile site, FRAXFFRAXF
Fraser syndromeFREM2
Retinitis pigmentosa, autosomal dominantFSCN2
Follicle-stimulating hormone deficiencyFSHB
Facioscapulohumeral muscular dystrophyFSHMD1A
Ovarian hyperstimulation syndromeFSHR
FSHR activationFSHR
Secondary amenorrheaFSHR
Twinning, dizygoticFSHR
Hypergonadotropic ovarian failureFSHR
Hypergonadotropic hypogonadismFSHR
Primary amenorrheaFSHR
Glutamate formiminotransferase deficiencyFTCD
Iron overloadFTH1
L-ferritin deficiencyFTL
NeuroferritinopathyFTL
Hyperferritinaemia-cataract syndromeFTL
Mental retardationFTSJ1
FucosidosisFUCA1
H antigen, Reunion phenotypeFUT1
H antigen, para-Bombay phenotypeFUT1
H antigen, Bombay phenotypeFUT1
Fucosyltransferase deficiencyFUT2
Lewis antigen, absenceFUT3
Fucosyltransferase deficiencyFUT6
Fucosyltransferase deficiencyFUT7
Friedreich ataxiaFXN
Cardiomyopathy, hypertrophicFXN
Hypomagnesaemia, renalFXYD2
Exudative vitreoretinopathyFZD4
Williams-Beuren syndromeFZD9
Glycogen storage disease 1aG6PC
Glucose-6-phosphate dehydrogenase deficiencyG6PD
Glycogen storage disease 2GAA
Childhood absence epilepsyGABRA1
Myoclonic epilepsy, juvenileGABRA1
Neurological deficits of Angelman syndromeGABRB3
Generalized epilepsy with febrile seizures plusGABRG2
Epilepsy, childhood absence with febrile seizuresGABRG2
Febrile seizuresGABRG2
Krabbe diseaseGALC
Galactosaemia epimerase deficiencyGALE
Galactokinase deficiencyGALK1
Mucopolysaccharidosis IVaGALNS
APRT and GALNS deficiency, combinedGALNS
Mucopolysaccharidosis IVGALNS
Tumoural calcinosisGALNT3
GalactosaemiaGALT
Guanidinoacetate methyltransferase deficiencyGAMT
Giant axonal neuropathyGAN
Charcot-Marie-Tooth disease 2dGARS
Charcot-Marie-Tooth disease 2d and distal spinal muscular atrophyGARS
Thrombocytopaenia 1GATA1
Dyserythropoietic anaemia and thrombocytopaeniaGATA1
Impaired erythropoiesisGATA1
Hypoparathyroidism, deafness and renal dysplasiaGATA3
Congenital heart defectsGATA4
Arginine:glycine amidinotransferase deficiencyGATM
Parkinson diseaseGBA
Gaucher diseaseGBA
Gaucher disease 3GBA
Gaucher disease 1GBA
Gaucher disease 2GBA
Glycogen storage disease 4GBE1
Polyglucosan body disease, adultGBE1
Glutaricacidaemia IGCDH
DystoniaGCH1
Tetrahydrobiopterin deficiencyGCH1
HyperphenylalaninaemiaGCH1
Dystonia, dopa-responsiveGCH1
Dystonia, progressiveGCH1
HyperglycaemiaGCK
Diabetes, gestationalGCK
HypoglycaemiaGCK
Diabetes mellitus, post transplantGCK
Diabetes mellitus, neonatalGCK
Diabetes, MODY2GCK
HyperinsulinismGCK
Diabetes mellitusGCK
Diabetes, NIDDMGCK
Diabetes, MODYGCK
Gamma-glutamylcysteine synthetase deficiencyGCLC
HypoparathyroidismGCM2
Congenital cataractGCNT2
Glucosidase 1 deficiencygcs1
Hyperglycinaemia, transient neonatalGCSH
Hyperglycinaemia, non-ketoticGCSH
Charcot-Marie-Tooth disease, autosomal recessiveGDAP1
Charcot-Marie-Tooth disease 4AGDAP1
Demyelinating peripheral neuropathyGDAP1
Chondrodysplasia, Grebe typeGDF5
Brachydactyly, type CGDF5
SymphalangismGDF5
ChondrodysplasiaGDF5
DuPan syndromeGDF5
DZ twinningGDF9
Mental retardation, non-specific, X-linkedGDI1
Hirschsprung diseaseGDNF
Alexander diseaseGFAP
Neutropaenia, congenitalGFI1
Combined oxidative phosphorylation deficiencyGFM1
GDNF receptor 1 deficiencyGFRA1
Gamma-glutamyl carboxylase deficiencyGGCX
Short statureGH1
Growth hormone deficiencyGH1
Diabetes mellitus, type 1GH1
Growth hormone deficiency 1AGH1
Placental growth hormone / lactogen deficiencyGH2
Growth hormone deficiencyGH2
Laron dwarfismGHR
Short statureGHR
Growth hormone insensitivityGHR
Growth hormone deficiencyGHRHR
Growth hormone deficiency 1BGHRHR
Growth hormone deficiency (type 1B)GHRHR
ObesityGHSR
Intrinsic factor deficiencyGIF
Hallerman-Streiff/ODDD syndromeGJA1
Ectodermal & oculodentodigital dysplasia with skin hyperkeratosisGJA1
Oculodentodigital dysplasiaGJA1
Heart malformationsGJA1
Pelizaeus-Merzbacher-like diseaseGJA12
Nuclear punctate cataractGJA3
Congenital cataractGJA3
Cataract, lamellar pulverulentGJA8
Cataract, zonular nuclear pulverulentGJA8
Cataract, congenital nuclearGJA8
Cataract, zonular pulverulentGJA8
Charcot-Marie-Tooth diseaseGJB1
Charcot-Marie-Tooth disease 2 with deafnessGJB1
Charcot-Marie-Tooth disease 2GJB1
Charcot-Marie-Tooth disease 1GJB1
Demyelinating polyneuropathy & motor axonal lossGJB1
Knuckle pads, hyperkeratosis and deafnessGJB2
DeafnessGJB2
Deafness, unilateralGJB2
Deafness, autosomal dominant 3GJB2
Deafness, autosomal recessive 1GJB2
Deafness and palmoplantar hyperkeratosisGJB2
Keratitis-ichthyosis-deafness syndromeGJB2
Knuckle pads, leukonychia, sensorineural deafnessGJB2
Deafness and palmoplantar keratodermaGJB2
Vohwinkel syndromeGJB2
Erythrokeratodermia variabilisGJB3
Deafness, non-syndromic, autosomal recessiveGJB3
Peripheral neuropathy & hearing impairmentGJB3
Deafness, non-syndromic, autosomal dominantGJB3
Erythrokeratodermia variabilisGJB4
Deafness, autosomal dominant 3GJB6
Deafness, autosomal recessiveGJB6
Hidrotic ectodermal dysplasiaGJB6
Glycerol kinase deficiencyGK
Fabry diseaseGLA
Morquio disease BGLB1
Gangliosidosis GM1, infantileGLB1
Neuronal affectionGLB1
Gangliosidosis GM1GLB1
Hyperglycinaemia, transient neonatalGLDC
Hyperglycinaemia, non-ketoticGLDC
HoloprosencephalyGLI2
Preaxial polydactyly IVGLI3
Greig cephalopolysyndactyly syndromeGLI3
Acrocallosal syndromeGLI3
Postaxial polydactyly A/BGLI3
Pallister-Hall syndromeGLI3
Postaxial polydactyly AGLI3
Neonatal diabetes & congenital hypothyroidismGLIS3
Glomuvenous malformationsGLMN
HyperekplexiaGLRA1
HyperekplexiaGLRB
Hyperinsulinism hyperammonaemia syndromeGLUD1
Gangliosidosis GM2GM2A
Albright hereditary osteodystrophyGNAS
Growth retardation, facial dysmorphism, hypotoniaGNAS
Progressive osseous heteroplasiaGNAS
McCune-Albright syndromeGNAS
Pseudohypoparathyroidism 1aGNAS
Pseudohypoparathyroidism 1bGNAS
Pseudohypoparathyroidism 1a, with testotoxicosisGNAS
Nightblindness, stationaryGNAT1
Cone-rod degenerationGNAT2
AchromatopsiaGNAT2
Myopathy, distal, with rimmed vacuolesGNE
SialuriaGNE
Inclusion body myopathyGNE
Glycine N-methyltransferase deficiencyGNMT
Rhizomelic chondrodysplasia punctata, type 2GNPAT
Mucolipidosis IIIGNPTAB
Mucolipidosis IIGNPTAB
Mucolipidosis IIIAGNPTAB
Mucolipidosis IIIGNPTG
Mucolipidosis IIIcGNPTG
Hypogonadotropic hypogonadismGNRHR
Mucopolysaccharidosis IIIdGNS
Pseudo-von Willebrand diseaseGP1BA
Bernard-Soulier syndromeGP1BA
MacrothrombocytopaeniaGP1BA
Giant platelet disorderGP1BB
Bernard-Soulier syndromeGP9
Simpson-Golabi-Behmel syndromeGPC3
Increased plasma FFA and glycerol levelsGPD2
Diabetes mellitus, type 2GPD2
Molybdenum cofactor deficiencyGPHN
HyperekplexiaGPHN
Glucosephosphate isomerase deficiencyGPI
Albinism, ocularGPR143
Nystagmus, X-linkedGPR143
Polymicrogyria, bilateral frontoparietalGPR56
Altered acylation stimulating protein bioactivityGPR77
Febrile and afebrile seizuresGPR98
Usher syndrome 2GPR98
Russell-Silver syndromeGRB10
Deafness, autosomal dominantGRHL2
Hyperoxaluria IIGRHPR
SchizophreniaGRIK3
Retinitis pigmentosaGRK1
Stationary night blindness, Oguchi typeGRK1
Night blindness, congenitalGRM6
Frontotemporal dementiaGRN
Autism and multiple exostosesGRPR
AmyloidosisGSN
Corneal dystrophy 2GSN
Glutathione synthetase deficiencyGSS
TrichothiodystrophyGTF2H5
Williams-Beuren syndromeGTF2IRD1
Williams-Beuren syndromeGTF2IRD2
Cone dystrophy, autosomal dominantGUCA1A
Retinal dystrophy, autosomal dominantGUCA1B
Cone-rod dystrophyGUCY2D
Leber congenital amaurosisGUCY2D
Retinitis pigmentosaGUCY2D
Mucopolysaccharidosis VIIGUSB
Hydrops fetalisGUSB
Haemolytic disease of the newbornGYPA
ElliptocytosisGYPC
Glycogen storage disease 0GYS2
Beckwith-Wiedemann syndromeH19
Cortisone reductase deficiencyH6PD
Hypoglycaemia, hyperinsulinaemicHADH
Mitochondrial trifunctional protein deficiencyHADHA
Mitochondrial trifunctional protein deficiencyHADHB
HistidinaemiaHAL
Haemochromatosis, juvenileHAMP
HaemochromatosisHAMP
Thalassaemia alphaHBA1
Haemoglobin H diseaseHBA1
Haemoglobin variantHBA1
Haemoglobin H diseaseHBA2
Anaemia with hypochromia & microcytosisHBA2
Haemoglobin variantHBA2
Thalassaemia alphaHBA2
Thalassaemia G-gamma(delta-beta)HBB
Thalassaemia betaHBB
Thalassaemia epsilon-gamma-delta-betaHBB
Thalassaemia beta, silentHBB
Thalassaemia traitHBB
Haemolytic anaemiaHBB
Thalassaemia gamma-delta-betaHBB
ErythrocytosisHBB
Thalassaemia delta-betaHBB
Sickle cell anaemiaHBB
Hereditary persistence of foetal haemoglobinHBB
Haemoglobin variantHBB
Anaemia, hypochromic mitocyticHBB
Thalassaemia alphaHBD
Thalassaemia deltaHBD
Hereditary persistence of foetal haemoglobinHBD
Haemoglobin variantHBD
Thalassaemia epsilon-gamma-delta-betaHBE1
Thalassaemia A-gamma-betaHBG1
Haemoglobin variantHBG1
Thalassaemia gammaHBG1
Thalassaemia A-gamma-delta-betaHBG1
Hereditary persistence of foetal haemoglobinHBG1
Thalassaemia gamma-delta-betaHBG1
Hereditary persistence of foetal haemoglobinHBG2
Thalassaemia epsilon-gamma-delta-betaHBG2
Haemoglobin variantHBG2
Sinus node diseaseHCN4
Sinus bradycardiaHCN4
Narcolepsy, early onsetHCRT
Excessive daytime sleepinessHCRTR2
Tourette syndromeHCRTR2
Huntington diseaseHD
Pituitary hypoplasiaHESX1
Septo-optic dysplasiaHESX1
Tay-Sachs diseaseHEXA
Beta-hexosaminidase pseudodeficiencyHEXA
Gangliosidosis GM2HEXA
Motor neuron diseaseHEXB
Heat lability hexosaminidaseHEXB
Sandhoff diseaseHEXB
Altered iron statusHFE
HaemochromatosisHFE
HaemochromatosisHFE2
AlkaptonuriaHGD
Haemolytic anaemiaHK1
Diabetes, NIDDMHK2
NarcolepsyHLA-DRB1
Multiple carboxylase deficiencyHLCS
Holocarboxylase synthetase deficiencyHLCS
Porphyria, acute intermittentHMBS
Macular degeneration, age relatedHMCN1
Diabetes mellitus, type 2HMGA1
Somatic overgrowth and lipomasHMGA2
HMG-CoA lyase deficiencyHMGCL
3-hydroxy-3-methylglutaric aciduriaHMGCL
Mitochondrial HMG-CoA synthase deficiencyHMGCS2
Haem oxygenase 1 deficiencyHMOX1
Diabetes, MODY3HNF1A
Diabetes mellitus, type 2HNF1A
Diabetes mellitus, type 1HNF1A
Diabetes, MODYHNF1A
Juvenile hyperuricemic nephropathy, familialHNF1B
Diabetes, early onset, renal dysfunctionHNF1B
Renal tract malformationHNF1B
Diabetes, MODYHNF1B
Diabetes mellitus, type 2HNF1B
Pancreas hypoplasia & multicystic renal dysplasiaHNF1B
GCKD with early-onset diabetesHNF1B
Renal carcinomaHNF1B
MODY, renal dysfunction, genital malformationHNF1B
Diabetic nephropathyHNF1B
Diabetes, MODY1HNF4A
Diabetes mellitus, type 2HNF4A
Diabetes, MODYHNF4A
Athabaskan brainstem dysgenesis syndrome, ABDSHOXA1
Amegakaryocytic thrombocytopaeniaHOXA11
Hand-foot-genital syndromeHOXA13
Guttmacher syndromeHOXA13
Vertical talus and Charcot-Marie-Tooth diseaseHOXD10
Limb malformationHOXD13
BrachydactylyHOXD13
SynpolydactylyHOXD13
Acute lymphoblastic leukaemiaHOXD4
AnhaptoglobinaemiaHP
HawkinsinsuriaHPD
Tyrosinaemia 3HPD
Hyperuricaemia with neurologic symptomsHPRT1
NephrolithiasisHPRT1
Lesch-Nyhan syndromeHPRT1
HyperuricaemiaHPRT1
Lesch-Nyhan syndrome, femaleHPRT1
HPRT deficiency without Lesch-Nyhan syndromeHPRT1
Hypoxanthine guanine phosphoribosyltransferase deficiencyHPRT1
Hermansky-Pudlak syndromeHPS1
Hermansky-Pudlak syndromeHPS3
Hermansky-Pudlak syndromeHPS4
Hermansky-Pudlak syndromeHPS5
Hermansky-Pudlak syndromeHPS6
Atrichia with papular lesionsHR
Alopecia universalisHR
Congenital atrichiaHR
Costello syndromeHRAS
Histidine-rich glycoprotein deficiencyHRG
Cortisone reductase deficiencyHSD11B1
HypertensionHSD11B2
Apparent mineralocorticoid excessHSD11B2
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiencyHSD17B10
PseudohermaphroditismHSD17B3
Pseudohermaphroditism, maleHSD17B3
17 beta-hydroxysteroid dehydrogenase 3 deficiencyHSD17B3
D-bifunctional protein deficiencyHSD17B4
Adrenal hyperplasiaHSD3B2
3 beta-hydroxysteroid dehydrogenase deficiencyHSD3B2
Idiopathic hypospadiasHSD3B2
PseudohermaphroditismHSD3B2
3 beta-hydroxysteroid oxidoreductase deficiencyHSD3B7
Cataract, marnerHSF4
Cataract, lamellarHSF4
Cataract, total whiteHSF4
Cataract, autosomal recessiveHSF4
Neuropathy, hereditary sensory, type IIHSN2
Cytochrome c oxidase deficiencyHSN2
Neuropathy, distal hereditary motorHSPB1
Charcot-Marie-Tooth disease, axonal, type 2FHSPB1
Charcot-Marie-Tooth disease 2LHSPB8
Neuropathy, distal hereditary motor, type IIHSPB8
Spastic paraplegiaHSPD1
Dyssegmental dysplasia, Silverman-Handmaker typeHSPG2
Schwartz-Jampel syndrome type 1HSPG2
Histatin 2 deficiencyHTN3
Pulmonary hypertension, primaryHTR2B
Parkinson diseaseHTRA2
Mucopolysaccharidosis IXHYAL1
Hydrolethalus syndromeHYLS1
Diabetes, NIDDMIAPP
Ichthyosis, autosomal recessiveich
Immunodeficiency, common variableICOS
Mucopolysaccharidosis IIIDS
Mucopolysaccharidosis II, with seizuresIDS
Hurler-Scheie syndromeIDUA
Alpha-L-iduronidase pseudodeficiencyIDUA
Hurler syndromeIDUA
Scheie syndromeIDUA
Mycobacterium avium osteomyelitisIFNGR1
Mycobacterial infectionIFNGR1
IFNGR1 deficiencyIFNGR1
BCG infectionIFNGR1
Mycobacterial infectionIFNGR2
Growth retardationIGF1
Insulin-like growth factor deficiencyIGF1
OvergrowthIGF1R
Growth retardationIGF1R
Acid-labile subunit deficiencyIGFALS
IgG2 deficiency, selectiveIGHG2
HypogammaglobulinaemiaIGHM
Spinal muscular atrophy with resp. distress 1IGHMBP2
Immunoglobulin K deficiencyIGKV@
Agammaglobulinaemia, autosomal recessiveIGLL1
Brachydactyly type A1IHH
Acrocapitofemoral dysplasiaIHH
Dysautonomia, familialIKBKAP
Immune deficiencyIKBKG
Incontinentia pigmenti, familialIKBKG
Ectodermal dysplasiaIKBKG
Ectodermal dysplasia with immune deficiencyIKBKG
Incontinentia pigmenti with immune deficiencyIKBKG
Mycobacteriosis, atypical, familialIKBKG
Interleukin 12 deficiencyIL12B
IL12RB1 deficiencyIL12RB1
Mycobacterial and Salmonella infectionIL12RB1
Salmonella infectionIL12RB1
Mycobacterial infectionIL12RB1
AtopyIL12RB2
Mental retardation, X-linkedIL1RAPL1
ImmunodeficiencyIL2RA
Immunodeficiency, severe combinedIL2RG
Immunodeficiency, severe combinedIL7R
Retinitis pigmentosaIMPDH1
Adrenocortical tumourINHA
Premature ovarian failureINHA
Diabetes, MODYINS
HyperproinsulinaemiaINS
CryptorchidismINSL3
Fibre-type disproportion myopathy, congenitalINSR
Acanthosis nigricansINSR
Insulin resistance AINSR
Insulin resistanceINSR
Rabson-Mendenhall syndromeINSR
Diabetes, NIDDMINSR
LeprechaunismINSR
Acanthosis nigricans, insulin relatedINSR
Situs inversus with cardiac defectsINVS
Nephronophthisis 2INVS
Senior-Loken syndrome 5IQCB1
IRAK4 deficiencyIRAK4
Popliteal pterygium syndromeIRF6
Van der Woude syndromeIRF6
Diabetes, NIDDMIRS1
Diabetes, NIDDM, susceptibility toIRS1
Diabetes mellitus, type 2IRS1
Diabetes, type 2ISL1
Glanzmann thrombastheniaITGA2B
Epidermolysis bullosa, junctionalITGA6
Myopathy, congenitalITGA7
Leukocyte adhesion deficiencyITGB2
ThrombocytopaeniaITGB3
Glanzmann thrombasthenia 2ITGB3
Glanzmann thrombasthenia 1ITGB3
Glanzmann thrombastheniaITGB3
Epidermolysis bullosaITGB4
Epidermolysis bullosa with pyloric atresiaITGB4
Epidermolysis bullosa, without pyloric atresiaITGB4
Epidermolysis bullosa simplexITGB4
Epidermolysis bullosa, junctionalITGB4
Familial Danish dementiaITM2B
Familial British dementiaITM2B
Isovaleric acidaemiaIVD
Hearing loss, heart defects and post. embryotoxonJAG1
Biliary atresia, extrahepaticJAG1
Alagille syndromeJAG1
Tetralogy of FallotJAG1
Immunodeficiency, severe combinedJAK3
Mental retardation, X-linkedJARID1C
Huntington disease-like 2JPH3
Naxos diseaseJUP
Kallmann syndromeKAL1
Chondrodysplasia punctataKAL1
Kallmann syndrome and ichthyosisKAL1
MyokymiaKCNA1
Epilepsy partial and myokymiaKCNA1
Episodic ataxia / myokymiaKCNA1
Episodic ataxiaKCNA1
Atrial fibrillationKCNA5
EpilepsyKCNAB2
Spinocerebellar ataxia 13KCNC3
Long QT syndromeKCNE1
Jervell and Lange-Nielsen syndromeKCNE1
Cardiac arrhythmiaKCNE2
Long QT syndromeKCNE2
Periodic paralysisKCNE3
Atrial fibrillation, familialKCNE3
Long QT syndromeKCNH2
Short QT syndromeKCNH2
Long QT syndrome, drug-associatedKCNH2
Bartter syndromeKCNJ1
Diabetes mellitusKCNJ11
Diabetes, transient neonatalKCNJ11
Diabetes, neonatalKCNJ11
Hypoglycaemia, persistent hyperinsulinaemicKCNJ11
Diabetes, permanent neonatalKCNJ11
Diabetes, juvenile-onsetKCNJ11
HyperinsulinismKCNJ11
Long QT syndromeKCNJ2
Short QT syndromeKCNJ2
Atrial fibrillationKCNJ2
Andersen syndromeKCNJ2
Ventricular tachycardiaKCNJ2
Generalized epilepsy and paroxysmal dyskinesiaKCNMA1
Jervell and Lange-Nielsen syndromeKCNQ1
Sudden infant death syndromeKCNQ1
Long QT syndromeKCNQ1
Short QT syndromeKCNQ1
Atrial fibrillationKCNQ1
Beckwith-Wiedemann syndromeKCNQ1OT1
Epilepsy, benign neonatalKCNQ2
Epilepsy, benign neonatalKCNQ3
Deafness, autosomal dominant 2KCNQ4
Cone dystrophy with supernormal rod ERGKCNV2
Cornea plana 2KERA
Essential fructosuriaKHK
DeafnessKIAA1199
Goldberg-Shprintzen syndromeKIAA1279
Charcot-Marie-Tooth disease 2aKIF1B
CFEOM1 & Marcus Gunn jaw-winking syndromeKIF21A
Congenital fibrosis of the extraocular muscles 1KIF21A
Spastic paraplegiaKIF5A
Hypogonadotropic hypogonadism, idiopathicKISS1R
Mastocytosis with haematologic disorderKIT
MastocytosisKIT
Mastocytosis, diffuse cutaneousKIT
PiebaldismKIT
Gastrointestinal stromal tumour & mastocytosisKIT
Gastrointestinal tumour, stromalKIT
Kallikrein deficiencyKLK12
Amelogenesis imperfectaKLK4
Prekallikrein deficiencyKLKB1
Kininogen deficiencyKNG1
Noonan syndromeKRAS
Cardio-facio-cutaneous syndromeKRAS
Cerebral cavernous malformationsKRIT1
Epidermolytic hyperkeratosisKRT1
Ichthyosis hystrixKRT1
Ichthyosis, with epidermolytic hyperkeratosisKRT1
Keratoderma, striate palmoplantarKRT1
Keratoderma, epidermolytic palmoplantar with tontubular keratinKRT1
Keratoderma, non-epidermolytic palmoplantarKRT1
Keratoderma, palmoplantarKRT1
Epidermolytic hyperkeratosisKRT10
Epidermolytic ichthyosis, annularKRT10
Bullous erythroderma ichthyosiformis congenitaKRT10
Corneal dystrophy, MeesmannKRT12
White sponge nevusKRT13
Dermatopathia pigmentosa reticularis KRT14
Epidermolysis bullosa, KoebnerKRT14
Naegeli syndrome KRT14
Epidermolysis bullosa, Weber-CockayneKRT14
Epidermolysis bullosa simplexKRT14
Epidermolysis bullosa, Dowling-MearaKRT14
Pachyonychia congenita 1KRT16
Keratoderma, non-epidermolytic palmoplantarKRT16
Pachyonychia congenita 1KRT17
Steatocystoma multiplexKRT17
Pachyonychia congenita 2KRT17
Cryptogenic cirrhosisKRT18
Ichthyosis bullosa, SiemensKRT2
Corneal dystrophy, MeesmannKRT3
Oral white sponge nevusKRT4
White sponge nevusKRT4
Dowling-Degos diseaseKRT5
Epidermolysis bullosa, Weber-CockayneKRT5
Epidermolysis bullosa simplexKRT5
Epidermolysis bullosa, KoebnerKRT5
Epidermolysis bullosa, Dowling-MearaKRT5
Pachyonychia congenita 1KRT6A
Pachyonychia congenitaKRT6B
Inflammatory bowel diseaseKRT8
Cryptogenic liver diseaseKRT8
MonilethrixKRT81
MonilethrixKRT83
Ectodermal dyplasia, hair-nail typeKRT85
MonilethrixKRT86
Keratoderma, epidermolytic palmoplantarKRT9
MASA syndromeL1CAM
Hydrocephalus, X-linkedL1CAM
Hydrocephalus, MASAL1CAM
Spastic paraplegiaL1CAM
L-2-Hydroxyglutaric aciduriaL2HGDH
Laminin alpha 2 chain deficiency, partialLAMA2
Laminin alpha 2 chain deficiencyLAMA2
Cardiomyopathy, dilated, type 1ALAMA2
Muscular dystrophy, merosin deficientLAMA2
Epidermolysis bullosa, HerlitzLAMA3
Epidermolysis bullosa, junctionalLAMA3
Laryngo-onycho-cutaneous syndromelama3a
Pierson syndromeLAMB2
Nephrotic syndromeLAMB2
Epidermolysis bullosa, HerlitzLAMB3
Epidermolysis bullosa, atrophic benignLAMB3
Epidermolysis bullosa, junctionalLAMB3
Epidermolysis bullosa, junctionalLAMC2
Epidermolysis bullosa, HerlitzLAMC2
Glycogen storage disease 2bLAMP2
Danon diseaseLAMP2
Danon diseaselamp2b
Muscular dystrophy, congenital 1DLARGE
Pelger-Huet anomalyLBR
Greenberg skeletal dysplasiaLBR
Fish eye diseaseLCAT
Lecithin:cholesterol acyltransferase deficiencyLCAT
Reduced high density lipoprotein-cholesterolLCAT
Lactase deficiency, congenitalLCT
Myofibrillar myopathyLDB3
Cardiomyopathy, dilatedLDB3
Cardiomyopathy, dilatedldb3z4
Lactate dehydrogenase deficiencyLDHA
Lactate dehydrogenase deficiencyLDHB
HypercholesterolaemiaLDLR
Hypercholesterolaemia, autosomal recessiveLDLRAP1
Left-right axis malformationLEFTY2
OsteopoikilosisLEMD3
Buschke-Ollendorff syndromeLEMD3
MelorheostosisLEMD3
Leptin deficiencyLEP
Obesity, morbidLEPR
Spondylocostal dysostosisLFNG
Epilepsy, partial, with auditory featuresLGI1
Epilepsy, lateral temporal lobe, autosom. dominantLGI1
HypogonadismLHB
Leydig cell hypoplasia & male pseudohermaphroditismLHCGR
Leydig cell hypoplasiaLHCGR
Hypogonadism, maleLHCGR
Luteinizing hormone resistanceLHCGR
PseudohermaphroditismLHCGR
Male precocious pubertyLHCGR
Pseudohermaphroditism, male, incompleteLHCGR
Hypospadias and anorectal malformationLHFPL5
Nonsyndromic hearing loss, autosomal recessiveLHFPL5
Pituitary hormone deficiency, combinedLHX3
Short statureLHX4
Female infertilityLIF
Stuve-Wiedemann syndromeLIFR
ImmunodeficiencyLIG1
LIG4 syndromeLIG4
Immunodeficiency, severe combinedLIG4
CataractLIM2
Cholesterol ester storage diseaseLIPA
Wolman syndromeLIPA
Hepatic lipase deficiencyLIPC
HyperlipidaemiaLIPC
Adiposity, severeLIPC
Charcot-Marie-Tooth disease 1cLITAF
Factor V and factor VIII deficiency, combinedLMAN1
AcheiropodiaLMBR1
Preaxial polydactylyLMBR1
Mandibuloacral dysplasiaLMNA
Cardiac conduction defectsLMNA
Charcot-Marie-Tooth disease 2LMNA
Partial lipodystrophy, DunniganLMNA
Muscular dystrophy, Emery-DreifussLMNA
Myopathy, early-onset and progeriaLMNA
Cardiocutaneous progeria syndromeLMNA
Werner syndrome, atypicalLMNA
Muscular dystrophy, Emery-Dreifuss, neurogenicLMNA
Muscular dystrophy & peripheral neuropathyLMNA
Seip syndromeLMNA
Cardiomyopathy, dilatedLMNA
Apical left ventricular aneurysmLMNA
Lipodystrophy and insulin-resistanceLMNA
Muscle weakness, atrial fibrilation, hypertriglyceridaemiaLMNA
Muscular dystrophy, limb girdleLMNA
Hutchinson-Gilford progeria syndromeLMNA
Cardiomyopathy, dilated, with conduction defect, type 1ALMNA
Cardiomyopathy, dilated, with conduction defect, type 1Almna1
Muscular dystrophy, congenitallmna1
Muscular dystrophy, limb girdlelmna1
Tight skin contracture syndromelmna1
Insulin resistance syndrome, type Almna1
Partial lipodystrophy, Dunniganlmna1
Hutchinson-Gilford progeria syndromelmna1
Werner syndromelmna1
Muscular dystrophy, Emery-Dreifusslmna1
Cardiomyopathy, dilatedlmna1
Lipodystrophy, partial, acquiredLMNB2
Nail patella syndromeLMX1B
Erythrokeratoderma, progressive symmetricLOR
Vohwinkel syndromeLOR
Lp(a) deficiencyLPA
Majeed syndromeLPIN2
HypertriglyceridaemiaLPL
HyperlipidaemiaLPL
Lipoprotein lipase deficiency, partialLPL
Lipoprotein lipase deficiencyLPL
ChylomicronaemiaLPL
Retinal dystrophy, early-onset severeLRAT
OsteosclerosisLRP5
High bone mass traitLRP5
Osteoporosis-pseudoglioma syndromeLRP5
Osteoporosis, primaryLRP5
OsteopetrosisLRP5
Endosteal hyperostosisLRP5
Exudative vitreoretinopathyLRP5
Cytochrome c oxidase deficiencyLRPPRC
AgammaglobulinaemiaLRRC8A
Parkinson diseaseLRRK2
Marfan syndrome, atypicalLTBP2
Aspirin-intolerent asthmaLTC4S
Decreased lipopolysaccharide-induced signalingLY96
Chediak-Higashi syndromeLYST
Amyloidosis, systemicLYZ
Amyloidosis, renalLYZ
ALys amyloidosis, systemicLYZ
Cataract, ocular anterior dysgenesis and colobomaMAF
Cerulean cataractMAF
Mannosidosis, alphaMAN2B1
Mannosidosis, beta, lysosomalMANBA
Monoamine oxidase deficiencyMAOA
Cardio-facio-cutaneous syndromeMAP2K1
Cardio-facio-cutaneous syndromeMAP2K2
Epileptic encephalopathyMAPK10
Diabetes, type 2MAPK8IP1
Parkinson diseaseMAPT
Frontotemporal dementia/corticobasal degenerationMAPT
Frontotemporal dementia, with parkinsonismMAPT
Supranuclear palsy, progressiveMAPT
Frontotemporal dementiaMAPT
Respiratory failureMAPT
ThrombocytopaeniaMASTL
Methionine adenosyltransferase deficiencyMAT1A
Spondyloepiphyseal dysplasiaMATN3
Multiple epiphyseal dysplasiaMATN3
AutismMBD1
UV-induced skin damage, vulnerability toMC1R
Basal cell carcinomaMC1R
ACTH hypersensitivity syndromeMC2R
Glucocorticoid deficiencyMC2R
ObesityMC3R
Obesity, autosomal dominantMC4R
Obesity, early onsetMC4R
3-methylcrotonylglycinuriaMCCC1
3-methylcrotonyl-CoA carboxylase deficiencyMCCC1
3-methylcrotonyl-CoA carboxylase deficiencyMCCC2
3-methylcrotonylglycinuriaMCCC2
Methylmalonic aciduriaMCEE
Factor V and Factor VIII deficiency, combinedMCFD2
ObesityMCHR1
Mucolipidosis IVMCOLN1
Primary microcephalyMCPH1
Premature chromosome condensation syndromeMCPH1
Rett syndrome, atypicalMECP2
Rett syndrome, preserved speech variantMECP2
Angelman syndromeMECP2
Neonatal encephalopathy, severeMECP2
Rett syndromeMECP2
Infantile autismMECP2
Mental retardation and progressive spasticityMECP2
Mental retardation, X-linkedMECP2
Rett syndromemecp2b
Coronary artery disease and myocardial infarctionMEF2A
Mediterranean fever, familialMEFV
Atypical endocrine neoplasiaMEN1
Multiple endocrine neoplasia 1MEN1
HyperparathyroidismMEN1
Adrenocortical tumourMEN1
Parathyroid tumourMEN1
Retinal dystrophyMERTK
Rod-cone dystrophyMERTK
Retinitis pigmentosaMERTK
Spondylocostal dysostosisMESP2
Papillary renal carcinomaMET
Gastric cancerMET
Charcot-Marie-Tooth disease 2aMFN2
Nanophthalmos hyperopiaMFRP
Congenital disorder of glycosylation 2aMGAT2
Keutel syndromeMGP
Psoriasis vulgarisMGST2
Opitz G/BBB syndromeMID1
Thyroid adenoma, follicularMINPP1
Cataract, polymorphic and lamellarMIP
Cataract, autosomal dominantMIP
Craniofacial/acallosal CNS midline defectsMIPOL1
Tietz syndromeMITF
Waardenburg syndrome 2AMITF
Waardenburg syndrome 2MITF
Waardenburg syndromeMITF
Bardet-Biedl syndromeMKKS
McKusick-Kaufman syndromeMKKS
Meckel syndromeMKS1
Bipolar affective disorderMLC1
Megalencephalic leukoencephalopathyMLC1
Endometrial cancerMLH1
Turcot syndromeMLH1
Colorectal cancer, non-polyposisMLH1
Colorectal / endometrial cancerMLH1
Colorectal cancerMLH1
Cystic sebaceous tumourMLH1
Muir-Torre syndromeMLH1
Colorectal cancer, non-polyposisMLH3
Endometrial cancerMLH3
Neuromotor dev. delay, cerebellar ataxia, epilepsyMLLT3
Griscelli syndromeMLPH
Microphthalamia with linear skin defectsMLS
Williams-Beuren syndromeMLXIPL
Malonyl-CoA decarboxylase deficiencyMLYCD
Methylmalonic acidaemiaMMAA
Methylmalonic aciduriaMMAB
Methylmalonic aciduria, cblB typeMMAB
Methylmalonic aciduria and metabolic ketoacidosisMMAB
Methylmalonic aciduriaMMACHC
Fetomaternal alloimmunisationMME
Spondyloepimetaphyseal dysplasia, Missouri typeMMP13
Osteolysis, idiopathic, Saudi typeMMP2
Winchester diseaseMMP2
Hypomaturation amelogenesis imperfectaMMP20
Pigmented hypomaturation amelogenesis imperfectaMMP20
Sacral agenesisMNX1
Currarino syndromeMNX1
Xanthinuria, type 2MOCOS
Molybdenum cofactor deficiencyMOCS1
Molybdenum cofactor deficiencymocs1b
Molybdenum cofactor deficiency BMOCS2
Molybdenum cofactor deficiency Bmocs2b
Congenital disorder of glycosylation 1fMPDU1
Congenital disorder of glycosylation 1bMPI
Amegakaryocytic thrombocytopaenia, congenitalMPL
Myeloperoxidase deficiencyMPO
Mitochondrial DNA depletion syndrome, hepatocerebralMPV17
Dejerine-Sottas syndromeMPZ
Charcot-Marie-Tooth disease 2MPZ
Charcot-Marie-Tooth disease 1MPZ
PolyneuropathyMPZ
Charcot-Marie-Tooth disease 1bMPZ
Charcot-Marie-Tooth diseaseMPZ
Neuropathy motor / sensory, intermediateMPZ
Demyelinating neuropathyMPZ
Roussy-Levy syndromeMPZ
Glucocorticoid deficiency 2MRAP
Ovarian cancerMRE11A
Ataxia telangiectasia-like diseaseMRE11A
Mitochondrial respiratory chain disorderMRPS16
AtopyMS4A2
Acute lymphocytic leukaemia and cafe-au-lait spotsMSH2
Colorectal / endometrial cancerMSH2
Gastric cancerMSH2
Colorectal cancerMSH2
Colon cancerMSH2
Endometrial cancerMSH2
Muir-Torre syndromeMSH2
CNS tumour and lymphomaMSH2
GliomaMSH2
Colorectal cancer, non-polyposisMSH2
Colon cancerMSH6
Colorectal cancer, non-polyposisMSH6
Multiple colorectal adenomaMSH6
Ovarian cancerMSH6
Neurofibromatosis, type 1MSH6
Endometrial cancerMSH6
Turcot syndromeMSH6
Colorectal cancerMSH6
Colon cancer, breast cancer, leukaemiaMSH6
Colorectal / endometrial cancerMSH6
Colorectal cancer, early onsetMSH6
Cafe-au-lait, oligodendroglioma, rectal cancerMSH6
Prostate cancerMSR1
Muscle hypertrophy, grossMSTN
Witkop syndromeMSX1
Cleft lip and palateMSX1
Tooth agenesisMSX1
Oligodontia in Wolf-Hirschhorn syndromeMSX1
Tooth agenesis and orofacial cleftingMSX1
Foramina parietalia permagnaMSX2
CraniosynostosisMSX2
Parietal foramina with cleidocranial dysplasiaMSX2
Enlarged parietal foraminaMSX2
Neural tube defectMTHFD1
HomocystinuriaMTHFR
Methylenetetrahydrofolate reductase deficiencyMTHFR
Myotubular myopathyMTM1
Demyelinating neuropathyMTMR2
Charcot-Marie-Tooth disease 4bMTMR2
Methionine synthase deficiencyMTR
Methionine synthase reductase deficiencyMTRR
HomocystinuriaMTRR
AbetalipoproteinaemiaMTTP
Congenital myasthenic syndromeMUSK
Methylmalonic aciduriaMUT
Adenomatous polyposis coli, attenuatedMUTYH
Colorectal cancerMUTYH
MYH polyposisMUTYH
Gastric cancerMUTYH
Adenomatous polyposis, attenuated/Muir-Torre syndMUTYH
Colorectal adenomaMUTYH
Adenomatous polyposis coliMUTYH
Cardiomyopathy, dilatedmvcl
Periodic feverMVK
Hyperimmunoglobulin D and periodic fever syndromeMVK
Mevalonic kinase deficiencyMVK
Mevalonic aciduriaMVK
Cardiomyopathy, dilatedMYBPC3
Increased left ventricular wall thicknessMYBPC3
Cardiomyopathy, hypertrophicMYBPC3
Feingold syndromeMYCN
Elevated creatine kinase levelsMYF6
Myopathy, dilatativeMYF6
Aortic aneurysm, familial thoracic 4MYH11
Hearing impairmentMYH14
Inclusion body myopathyMYH2
Arthrogryposis, distal, type 2AMYH3
Arthrogryposis, distal, type 2BMYH3
Cardiomyopathy, hypertrophicMYH6
Cardiomyopathy, dilatedMYH6
Atrial septal defectMYH6
Myopathy, distal 1MYH7
Cardiomyopathy, dilatedMYH7
Myosin storage myopathyMYH7
Increased left ventricular wall thicknessMYH7
Hyaline body myopathyMYH7
Cardiomyopathy, hypertrophicMYH7
Cardiac myxoma and distal arthrogryposisMYH8
May-Hegglin anomalyMYH9
Macrothrombocytopaenia without leukocyte inclusionMYH9
Epstein/Fechtner syndromeMYH9
Fechtner syndromeMYH9
May-Hegglin anomaly/Sebastian syndromeMYH9
Deafness, autosomal dominant 17MYH9
Sebastian syndromeMYH9
Alport syndrome with macrothrombocytopaeniaMYH9
Macrothrombocytopaenia with leukocyte inclusionsMYH9
Cardiomyopathy, hypertrophicMYL2
Increased left ventricular wall thicknessMYL3
Cardiomyopathy, hypertrophicMYL3
Cardiomyopathy, hypertrophicMYLK2
Sensorineural deafness in SMSMYO15A
Deafness, non-syndromic, autosomal recessiveMYO15A
Sensorineural deafness, nonsyndromicMYO1A
Non-syndromic hearing lossMYO3A
Griscelli syndromeMYO5A
Cardiomyopathy, hypertrophic with deafnessMYO6
Deafness, autosomal recessiveMYO6
Deafness, autosomal dominant 22MYO6
Deafness, non-syndromic, autosomal recessiveMYO7A
Usher syndrome 1MYO7A
Usher syndrome, atypicalMYO7A
Deafness, non-syndromic, autosomal dominantMYO7A
Usher syndrome 1bMYO7A
Glaucoma 1, open angleMYOC
Muscular dystrophy, limb girdle 1AMYOT
Myofibrillar myopathyMYOT
MyotilinopathyMYOT
Neuroaxonal dystrophy, infantileNAGA
N-acetylgalactosaminidase alpha deficiencyNAGA
Sanfilippo syndrome BNAGLU
N-acetylglutamate synthase deficiencyNAGS
Hyperammonaemia, carbamylglutamate responsiveNAGS
Spinal muscular atrophyNAIP
Amyotrophic lateral sclerosisNAIP
Autism, idiopathicNBEA
Breast cancerNBN
Nijmegen breakage syndromeNBN
Acute lymphoblastic leukaemiaNBN
Colorectal cancerNBN
Chronic granulomatous diseaseNCF1
Chronic granulomatous diseaseNCF2
Retinopathy of prematurityNDP
Norrie diseaseNDP
Exudative vitreoretinopathyNDP
Charcot-Marie-Tooth diseaseNDRG1
Neuropathy, hereditary motor and sensory, Lom-typeNDRG1
Mitochondrial complex I deficiencyNDUFA12L
Thyroid tumoursNDUFA13
Complex 1 deficiencyNDUFS1
Isolated Complex I deficiencyNDUFS2
Complex 1 deficiencyNDUFS3
Complex 1 and 3 deficiency, combinedNDUFS4
Complex 1 deficiencyNDUFS4
Mitochondrial complex I deficiencyNDUFS6
Leigh syndromeNDUFS7
Isolated complex 1 deficiencyNDUFS8
Leigh syndromeNDUFS8
Complex 1 deficiencyNDUFV1
Hypertrophic cardiomyopathy and encephalopathyNDUFV2
Nemaline myopathyNEB
Nemaline myopathyneb170
Nemaline myopathyneb171
Amyotrophic lateral sclerosisNEFH
Charcot-Marie-Tooth disease 2NEFL
Parkinson diseaseNEFM
Multiple colorectal adenomaNEIL2
Multiple colorectal adenomaNEIL3
Hypogonadotropic hypogonadism, idiopathicNELF
Sialidosis 1NEU1
Sialidosis 2NEU1
SialidosisNEU1
Diabetes mellitus, type 2NEUROD1
Diabetes, MODYNEUROD1
PhaeochromocytomaNF1
Neurofibromatosis, spinalNF1
Neurofibromatosis 1NF1
Neurofibromatosis-Noonan syndromeNF1
Neurofibromatosis 2NF2
Hodgkin lymphomaNFKBIA
Ectodermal dysplasia, anhidrotic with immune deficiencyNFKBIA
Loss of pain perceptionNGF
Myoclonic epilepsy of LaforaNHLRC1
Nance-Horan syndromeNHS
Spastic paraplegia, autosomal dominantNIPA1
Cornelia de Lange syndromeNIPBL
Tetralogy of FallotNKX2-5
Thyroid dysgenesisNKX2-5
Cardiac diseaseNKX2-5
Atrial septal defectNKX2-5
Congenital heart disease, non-syndromicNKX2-5
AutismNLGN3
Mental retardationNLGN4X
AutismNLGN4X
Recurrent fever and amyloidosisNLRP3
CINCA syndromeNLRP3
Cryopyrin-associated periodic syndromeNLRP3
Muckle-Wells syndromeNLRP3
Familial cold autoinflammatory syndromeNLRP3
Hydatidiform moleNLRP7
NeuroblastomaNME1
Blau syndromeNOD2
Granulomatous arthritis, paediatric NOD2
Sarcoidosis, early onsetNOD2
Synovitis, granulomatous, with uveitisNOD2
Situs ambiguusNODAL
Fibrodysplasia ossificans progressivaNOG
Facioaudiosymphalangism syndromeNOG
Teunissen-Cremers syndromeNOG
Symphalangism, proximalNOG
Multiple synostoses syndromeNOG
Tarsal/carpal coalition syndromeNOG
Stapes ankylosis with broad thumb and toesNOG
Premature ovarian failure and prox. symphalangismNOG
Aortic valve diseaseNOTCH1
Alagille syndromeNOTCH2
CADASILNOTCH3
CADASIL with varicose veinsNOTCH3
Nucleoside phosphorylase deficiencyNP
SchizophreniaNPAS3
Niemann-Pick type II diseaseNPC1
Niemann-Pick disease DNPC1
Niemann-Pick disease CNPC1
Niemann-Pick type C2 diseaseNPC2
Nephronophthisis 1NPHP1
Nephronophthisis 1 with COMANPHP1
Nephronophthisis 3NPHP3
Nephronophthisis 4NPHP4
Congenital nephrotic syndrome, Finnish typeNPHS1
Focal segmental glomerulosclerosisNPHS1
Nephrotic syndrome, steroid resistantNPHS2
Focal segmental glomerulosclerosisNPHS2
Acromesomelic dysplasia, Maroteaux typeNPR2
Short statureNPR2
Adrenal hypoplasiaNR0B1
Adrenal insufficiencyNR0B1
ObesityNR0B2
Enhanced S cone syndromeNR2E3
Glucocorticoid receptor deficiencyNR3C1
Pseudohypoaldosteronism 1NR3C2
Hypertension, early onset exacerbated in pregnancyNR3C2
SchizophreniaNR4A2
Parkinson diseaseNR4A2
Bipolar disorderNR4A2
Adrenocortical insuff. without ovarian defectNR5A1
XY sex reversal, with adrenal failureNR5A1
XY sex reversal, without adrenal failureNR5A1
Enhanced S cone syndromeNRL
Retinitis pigmentosaNRL
Clumped pigmentary retinal degenerationNRL
Sotos-like syndromeNSD1
Beckwith-Wiedemann syndromeNSD1
Weaver syndromeNSD1
GigantismNSD1
Sotos syndromeNSD1
CHILD syndromeNSDHL
Pyrimidine 5' nucleotidase deficiencyNT5C3
Haemolytic anaemiaNT5C3
Rett syndromeNTNG1
Sensory and autonomic neuropathy type IVNTRK1
Sensory and autonomic neuropathy type VNTRK1
Pain insensitivity, congenitalNTRK1
Obesity, hyperphagia, and developmental delayNTRK2
Striatonigral degeneration, infantileNUP62
Night blindness, congenital stationaryNYX
Gyrate atrophyOAT
Albinism, oculocutaneous IIOCA2
Lowe oculocerebrorenal syndromeOCRL
Dent diseaseOCRL
Oral-facial-digital syndrome 1OFD1
Multiple colorectal adenomaOGG1
Optic atrophy 1OPA1
3-methylglutaconicaciduria, type IIIOPA3
Optic atrophy and cataractOPA3
Mental retardation and epilepsyOPHN1
Cerebellar hypoplasiaOPHN1
Mental retardation syndrome, X-linkedOPHN1
Mental retardation, seizures, ataxia, hypotoniaOPHN1
Protan colour-vision defectOPN1LW
Visual dichromacyOPN1LW
ProtanopiaOPN1LW
Cone degeneration, X-linkedOPN1LW
Blue cone monochromatismOPN1LW
Trichromacy, deutanOPN1MW
Protan colour-vision defectOPN1MW
Visual dichromacyOPN1MW
DeuteranopiaOPN1MW
Blue cone monochromatismOPN1MW
TritanopiaOPN1SW
Glaucoma 1, open angleOPTN
X-linked cone dystrophyorf15
Retinitis pigmentosaorf15
Osteopetrosis, autosomal recessiveOSTM1
Ornithine transcarbamylase deficiencyOTC
HyperammonaemiaOTC
Deafness, autosomal recessiveOTOA
Deafness, non-syndromicOTOF
Ocular malformationsOTX2
3-oxoacid CoA transferase deficiencyOXCT1
Melanoma / nervous system tumoursp14arf
Melanomap14arf
Head and neck cancerp14arf
Colon Carcinomap14arf
Platelet ADP receptor defectP2RX1
Allogenic cytotoxic T lymphocyte responseP2RX5
Platelet ADP receptor defectP2RY12
Oculopharyngeal muscular dystrophyPABPN1
Lissencephaly, isolatedPAFAH1B1
Miller-Dieker lissencephaly syndromePAFAH1B1
Subcortical band heterotopiaPAFAH1B1
Mental retardation, ataxia & atrophy of the brainPAFAH1B3
HyperphenylalaninaemiaPAH
PhenylketonuriaPAH
Mental retardation syndrome, X-linkedPAK3
Pantothenate kinase-associated neurodegenerationPANK2
HARP syndromePANK2
Spondyloepiphyseal dysplasiaPAPSS2
Parkinson disease, early-onsetPARK2
Parkinson disease, late-onsetPARK2
Parkinson disease, autosomal recessivePARK2
Parkinsonism, juvenile, autosomal recessivePARK2
Parkinsonism & amyotrophic lateral sclerosisPARK7
Parkinson disease, autosomal recessivePARK7
Klippel-Feil syndromePAX1
Spina bifidaPAX1
Macular abnormalitiesPAX2
Renal-coloboma syndromePAX2
Optic-renal malformationPAX2
Renal hypoplasiaPAX2
Multicystic dysplastic kidneyPAX2
Waardenburg syndromePAX3
Waardenburg syndrome IIIPAX3
Waardenburg syndrome IPAX3
Craniofacial-deafness-hand syndromePAX3
Diabetes, type 2PAX4
Ectopia pupillaePAX6
Cataract, secondary glaucomaPAX6
Ocular anterior segment anomalyPAX6
Pineal gland, absence ofPAX6
WAGR syndromePAX6
Cataract, with nystagmusPAX6
NystagmusPAX6
AniridiaPAX6
Keratitis, autosomal dominantPAX6
Foveal hypoplasia, isolatedPAX6
Peters' anomalyPAX6
Optic-nerve malformationsPAX6
Aniridiapax6tv2
Peter's anomalypax6tv2
Thyroid hypoplasiaPAX8
OligodontiaPAX9
HypodontiaPAX9
Oligodontia, molarPAX9
Pyruvate carboxylase deficiencyPC
HyperphenylalaninaemiaPCBD1
Propionic acidaemiaPCCA
Propionic acidaemiaPCCB
Usher syndrome 1fPCDH15
Deafness, non-syndromic, autosomal recessivePCDH15
Protocadherin deficiencyPCDHA10
Obesity and impaired prohormone processingPCSK1
Hypercholesterolaemia, autosomal dominantPCSK9
HypocholesterolaemiaPCSK9
Cerebral cavernous malformationPDCD10
Adrenocortical hyperplasiaPDE11A
SchizophreniaPDE4B
Retinitis pigmentosaPDE6A
Retinitis pigmentosaPDE6B
Nightblindness, stationaryPDE6B
Cone dystrophyPDE6H
MeningiomaPDGFB
Gastrointestinal stromal tumourPDGFRA
Lactic acidosisPDHA1
Leigh syndromePDHA1
Pyruvate dehydrogenase deficiencyPDHA1
Pyruvate dehydrogenase deficiencyPDHB
Pyruvate dehydrogenase complex deficiencyPDHX
Diabetes mellitus, type 2PDX1
Pancreatic agenesisPDX1
Diabetes mellitus, type 2 & gestationalPDX1
Prolidase deficiencyPEPD
Familial advanced sleep phase syndromePER2
Neonatal adrenoleukodystrophyPEX1
Peroxisome biogenesis disorderPEX1
Refsum disease, infantilePEX1
Zellweger syndromePEX1
Zellweger syndromePEX10
Neonatal adrenoleukodystrophyPEX10
Peroxisome biogenesis disorder 3PEX12
Zellweger syndrome HPEX13
Neonatal adrenoleukodystrophyPEX13
Zellweger syndromePEX14
Zellweger syndrome, complementation group DPEX16
Zellweger syndromePEX16
Zellweger syndrome, complementation group JPEX19
Refsum disease, infantilePEX26
Peroxisome biogenesis disorderPEX26
Zellweger syndromePEX26
Zellweger syndrome GPEX3
AdrenoleukodystrophyPEX5
Refsum disease, infantilePEX5
Zellweger syndrome CPEX6
Neonatal adrenoleukodystrophyPEX6
Peroxisome biogenesis disorderPEX6
Peroxisome biogenesis disorder 4PEX6
Rhizomelic chondrodysplasia punctataPEX7
Refsum diseasePEX7
Glycogen storage disease 7PFKM
Phosphoglycerate mutase deficiencyPGAM1
Phosphoglycerate mutase deficiencyPGAM2
Phosphoglycerate mutase deficiency, partialPGAM2
Phosphoglycerate kinase deficiencyPGK1
Insensitivity to mifepristonePGR
Rickets, hypophosphataemicPHEX
Borjeson-Forssman-Lehmann syndromePHF6
X-linked mental retardation & cleft lip/palatePHF8
3-phosphoglycerate dehydrogenase deficiencyPHGDH
Phosphorylase kinase deficiencyPHKA1
Liver glycogenosis 1PHKA2
Liver glycogenosis 2PHKA2
Liver glycogenosisPHKB
Phosphorylase kinase deficiencyPHKG2
Fibrosis of extraocular muscles type 2PHOX2A
NeuroblastomaPHOX2B
Hirschsprung diseasePHOX2B
Central hypoventilation syndromePHOX2B
Refsum diseasePHYH
Glycosylphosphatidylinositol deficiencyPIGM
Parkinson disease, autosomal recessivePINK1
Parkinson disease, early-onsetPINK1
Corneal fleck dystrophyPIP5K3
Iris hypoplasiaPITX2
Rieger syndromePITX2
Peter anomalyPITX2
Iridogoniodysgenesis syndromePITX2
Ring dermoid of the corneaPITX2
Axenfeld-Rieger syndromePITX2
OmphalocelePITX2
Craniofacial/acallosal CNS midline defectsPITX2
Congenital cataractPITX3
Anterior segment mesenchymal dysgenesisPITX3
Polycystic kidney disease 1PKD1
Polycystic kidney disease 2PKD2
Polycystic kidney diseasePKHD1
Pyruvate kinase deficiencyPKLR
Haemolytic anaemiaPKLR
Elevated red cell ATPPKLR
Ectodermal dysplasia/skin fragility syndromePKP1
Arrhythmogenic right ventricular dysplasiaPKP2
Colorectal cancerPLA2G2A
Infantile neuroaxonal dystrophy 1PLA2G6
Infantile neuroaxonal dystrophy with brain iron accumulationPLA2G6
Neurodegeneration with brain iron accumulationPLA2G6
PAF acetylhydrolase deficiencyPLA2G7
Alzheimer diseasePLCD1
Epidermolysis bullosa with pyloric atresiaPLEC1
Epidermolysis bullosa simplexPLEC1
Muscular dystrophy with epidermolysis bullosaPLEC1
Cerebellar ataxia, autosomal dominantPLEKHG4
Plasminogen deficiencyPLG
CardiomyopathyPLN
Cardiomyopathy, dilatedPLN
Ehlers-Danlos syndrome VIPLOD1
Bruck syndromePLOD2
Spastic paraplegiaPLP1
Pelizaeus-Merzbacher diseasePLP1
Spastic paraplegia 2PLP1
Congenital disorder of glycosylation 1aPMM2
Charcot-Marie-Tooth disease with deafnessPMP22
Dejerine-Sottas syndromePMP22
Charcot-Marie-Tooth disease with slow nerve conduction velocityPMP22
Charcot-Marie-Tooth disease 1PMP22
Neuropathy, liability to pressure palsiesPMP22
Charcot-Marie-Tooth disease 1aPMP22
Colorectal cancer, non-polyposisPMS1
Colorectal cancer, non-polyposisPMS2
Neuroectodermal tumours and cafe-au-lait spotsPMS2
Turcot syndromePMS2
Paroxysmal nonkinesiogenic dyskinesiaPNKD
Epileptic encephalopathy, neonatalPNPO
EncephalopathyPOLG
Alpers syndromePOLG
Ataxic neuropathyPOLG
Progressive external ophthalmoplegiaPOLG
Parkinson disease, early-onsetPOLG
SANDOPOLG
Progressive external ophthalmoplegiaPOLG2
Xeroderma pigmentosum, variantPOLH
Obesity, adrenal insufficiency and red hairPOMC
ObesityPOMC
Muscle-eye-brain diseasePOMGNT1
Motor disability, microcephaly, mental retardationPOMT1
Muscular dystrophy, congenital/mental retardationPOMT1
Muscular dystrophy, limb girdlePOMT1
Walker-Warburg syndromePOMT1
Muscle-eye-brain like diseasePOMT2
Walker-Warburg syndromePOMT2
Adrenal hyperplasiaPOR
Antley-Bixler syndromePOR
Disordered steroidogenesisPOR
Pituitary hormone deficiencyPOU1F1
X-linked mixed deafnessPOU3F4
Deafness, non-syndromic, autosomal dominantPOU4F3
ObesityPPARG
Insulin resistancePPARG
Insulin resistance, diabetes and hypertensionPPARG
Partial lipodystrophyPPARG
Pyruvate dehydrogenase phosphatase deficiencyPPM2C
Porphyria, variegatePPOX
Insulin resistancePPP1R3A
Spinocerebellar ataxia 12PPP2R2B
Neuronal ceroid lipofuscinosis, infantilePPT1
Neuronal ceroid lipofuscinosis, juvenilePPT1
Neuronal ceroid lipofuscinosis, adultPPT1
Neuronal ceroid lipofuscinosis, late infantilePPT1
Golabi-Ito-Hall syndromePQBP1
Mental retardationPQBP1
Proline-rich protein PRB1 deficiencyPRB1
Proline-rich protein PRB3 deficiencyPRB3
Proline-rich protein PRB4 deficiencyPRB4
Hypotonia-Cystinuria syndromePREPL
Haemophagocytic lymphohistiocytosis, familialPRF1
Chronic active Epstein-Barr virus infectionPRF1
Camptodactyly-arthropathy-coxa vara-pericarditisPRG4
Cardiac glycogenosisPRKAG2
Cardiomyopathy, hypertrophicPRKAG2
Wolff-Parkinson-White syndromePRKAG2
Carney complex, type 1PRKAR1A
Myxoma, intracardiacPRKAR1A
Carney complexPRKAR1A
Cushing syndromePRKAR1A
Spinocerebellar ataxia 14PRKCG
Retinitis pigmentosaPRKCG
Polycystic liver diseasePRKCSH
Creutzfeldt-Jakob diseasePRND
Gerstmann-Straeussler syndromePRNP
SchizophreniaPRNP
Creutzfeldt-Jakob syndromePRNP
DementiaPRNP
Encephalopathy, familialPRNP
Prion diseasePRNP
Spongiform encephalopathy, familialPRNP
Protein C deficiencyPROC
Increased proline level in schizophreniaPRODH
Retinal degenerationPROM1
Hypogonadotropic hypogonadismPROP1
Pituitary hormone deficiencyPROP1
Protein S deficiencyPROS1
ThrombosisPROZ
Protein Z deficiencyPROZ
Retinitis pigmentosaPRPF3
Retinitis pigmentosaPRPF31
Retinitis pigmentosaPRPF8
Amyotrophic lateral sclerosisPRPH
Cone-rod degenerationPRPH2
Butterfly dystrophyPRPH2
Retinitis punctata albescensPRPH2
Central areolar choroidal dystrophyPRPH2
Retinal pattern dystrophyPRPH2
Pattern dystrophyPRPH2
Pattern/cone-rod dystrophyPRPH2
Foveamacular dystrophyPRPH2
Macular dystrophyPRPH2
Foveamacular dystrophy, adult onsetPRPH2
Retinitis pigmentosaPRPH2
Cone dystrophyPRPH2
Foveal dystrophyPRPH2
Cone-rod dystrophyPRPH2
Phosphoribosylpyrophosphate synthetase superactivityPRPS1
Pancreatitis, chronicPRSS1
Pancreatitis, protection againstPRSS1
Pancreatitis, hereditaryPRSS1
Mental retardationPRSS12
Enteropeptidase deficiencyPRSS7
Dejerine-Sottas syndromePRX
Charcot-Marie-Tooth diseasePRX
Charcot-Marie-Tooth disease 4PRX
Saposin A deficiencyPSAP
Metachromatic leukodystrophyPSAP
Prosaposin deficiencyPSAP
Gaucher disease, atypicalPSAP
Frontotemporal dementiaPSEN1
Alzheimer diseasePSEN1
Presenile dementia and parkinsonismPSEN1
Language impairmentPSEN1
Dementia with Lewy bodies and Alzheimer diseasePSEN1
Subcortical dementia and parkinsonismPSEN1
Alzheimer disease, early onsetPSEN1
Alzheimer diseasePSEN2
Alzheimer diseasePSENEN
3-phosphoserine phosphatase deficiencyPSPH
PAPA syndromePSTPIP1
Nevoid basal cell carcinoma syndromePTCH1
HoloprosencephalyPTCH1
Cowden diseasePTEN
PTEN hamartoma-tumour syndromePTEN
Proteus-like syndromePTEN
Multiple cancersPTEN
Breast cancerPTEN
Cowden disease / Sjogren's syndromePTEN
Juvenile polyposis coliPTEN
Proteus syndromePTEN
Squamous cell carcinomaPTEN
Bannayan-Riley-Ruvalcaba syndromePTEN
Autism spectrum disorder and macrocephalyPTEN
Lhermitte-Duclos diseasePTEN
Complex atypical hyperplasiaPTEN
Hyperplastic polyps and tubular adenomasPTEN
Bannayan-Zonana syndromePTEN
Pancreatic and cerebellar agenesisPTF1A
HypertensionPTGIS
HypoparathyroidismPTH
Eiken skeletal dysplasiaPTHR1
Metaphyseal chondrodysplasiaPTHR1
Osteochondrodysplasia, BlomstrandPTHR1
Noonan syndromePTPN11
ML / LEOPARD syndromePTPN11
Atrioventricular septal defectPTPN11
Immunodeficiency, severe combinedPTPRC
HyperphenylalaninaemiaPTS
Tetrahydrobiopterin deficiencyPTS
Mitochondrial myopathy and sideroblastic anaemiaPUS1
Ectodermal dysplasia, cleft lip / palatePVRL1
Cleft lip / palatePVRL1
Peroxisome biogenesis disorderPXMP3
Zellweger syndromePXMP3
Refsum disease, infantilePXMP3
Glycogen storage disease 6PYGL
McArdle diseasePYGM
Dihydropteridine reductase deficiencyQDPR
Tetrahydrobiopterin deficiencyQDPR
Griscelli syndromeRAB27A
Warburg micro syndrome 1RAB3GAP1
Martsolf syndromeRAB3GAP2
Sensory neuropathyRAB7A
Charcot-Marie-Tooth disease 2bRAB7A
Neutrophil immunodeficiency syndromeRAC2
Breast and/or ovarian cancerRAD50
Breast cancerRAD51
Breast cancerRAD54L
Acute myeloid leukaemiaRAF1
CMV infectionRAG1
Immunodeficiency, severe combinedRAG1
Atypical SCID/Omenn syndromeRAG1
Immunodeficiency, severe combined, B cell -veRAG1
Immunodeficiency, severe combined, T & B cell -veRAG1
Omenn syndromeRAG1
Atypical SCID/Omenn syndromeRAG2
Immunodeficiency, severe combinedRAG2
Immunodeficiency, severe combined, T & B cell -veRAG2
Immunodeficiency, severe combined, B cell -veRAG2
Omenn syndromeRAG2
Smith-Magenis syndromeRAI1
Congenital myasthenic syndromeRAPSN
Capillary malformation-arteriovenous malformationRASA1
Anophthalmia and sclerocorneaRAX
Cone-rod dystrophyRAXL1
Macular degeneration, age relatedRAXL1
RetinoblastomaRB1
Acute megakaryocytic leukaemiaRBM15
Retinol deficiencyRBP4
Retinal dystrophyRDH12
Leber congenital amaurosisRDH12
Fundus albipunctatusRDH5
Rothmund-Thomson syndromeRECQL4
Baller-Gerold syndromeRECQL4
RAPADILINO syndromeRECQL4
Rothmund-Thomson syndrome and RAPADILINO syndromeRECQL4
Spastic paraplegia 31REEP1
Lissencephaly with cerebellar hypoplasiaRELN
Renal tubular dysgenesisREN
Prorenin elevationREN
Multiple endocrine neoplasia 2RET
Multiple endocrine neoplasia 2ARET
Hirschsprung diseaseRET
Elevated basal serum calcitoninRET
Aganglionosis, total colonicRET
Thyroid cancerRET
Phaeochromocytoma and paragangliomaRET
Autonomic control, congenital failure ofRET
Multifollicular thyroid carcinomaRET
Multiple endocrine neoplasia 2BRET
Thyroid carcinoma, familial medullaryRET
Williams-Beuren syndromeRFC2
Bare lymphocyte syndromeRFX5
MHC class II deficiencyRFXANK
Bare lymphocyte syndrome, complementation group BRFXANK
Bare lymphocyte syndrome, complementation group DRFXAP
Retinitis pigmentosaRGR
HypertensionRGS2
Prolonged electroretinal response suppressionRGS9
Prolonged electroretinal response suppressionRGS9BP
Rh-deficiency syndromeRHAG
Rh-mod syndromeRHAG
Rh-null syndromeRHAG
Rh-deficiency syndromeRHCE
Retinitis pigmentosaRHO
NightblindnessRHO
Cone-rod dystrophyRIMS1
Retinitis pigmentosa, autosomal recessiveRLBP1
Cone-rod dystrophyRLBP1
Retinitis punctata albescensRLBP1
Bothnia dystrophyRLBP1
Cartilage-Hair hypoplasiaRMRP
Anauxetic dysplasiaRMRP
Dwarfism, immune deficiency, aplastic anaemiaRMRP
Metaphyseal dysplasia without hypotrichosisRMRP
Aicardi-Goutieres syndromeRNASEH2A
Aicardi-Goutieres syndromeRNASEH2B
Aicardi-Goutieres syndromeRNASEH2C
Ribonuclease L deficiencyRNASEL
Prostate cancerRNASEL
Renal cell carcinoma, hereditaryRNF139
Gaze palsy, horizontal, with progressive scoliosisROBO3
Retinitis pigmentosaROM1
Robinow syndrome, autosomal recessiveROR2
Brachydactyly, type BROR2
ObesityRORA
Retinitis pigmentosaRP1
Retinitis pigmentosa & mental retardationRP2
Retinitis pigmentosa, X-linkedRP2
Retinitis pigmentosaRP9
Cone-rod dystrophy, early-onset, severeRPE65
Leber congenital amaurosisRPE65
Retinal dystrophy, autosomal recessiveRPE65
Retinal dystrophy, severe, childhood onsetRPE65
Retinitis pigmentosaRPE65
Retinitis pigmentosaRPGR
Cone-rod dystrophyRPGRIP1
Leber congenital amaurosisRPGRIP1
Retinitis pigmentosa, isolatedRPGRIP1
Ribose-5-phosphate isomerase deficiencyRPIA
Diamond-Blackfan anaemiaRPS19
Coffin-Lowry syndromeRPS6KA3
Mental retardation, non-specificRPS6KA3
Retinoschisis, X linked juvenileRS1
Platelet disorder, familialRUNX1
ThrombocytopaeniaRUNX1
Cleidocranial dysplasiaRUNX2
CryptorchidismRXFP2
Core/rod diseaseRYR1
Multi-minicore diseaseRYR1
Malignant hyperthermiaRYR1
Myopathy, congenitalRYR1
Central core diseaseRYR1
Ventricular tachycardia, polymorphicRYR2
Arrhythmogenic right ventricular dysplasia type 2RYR2
Ataxia, early-onsetSACS
Spastic ataxiaSACS
AtaxiaSACS
Spastic ataxia, Charlevoix-SaguenaySACS
Oguchi diseaseSAG
Townes-Brocks syndromeSALL1
VACTERLSALL4
Okihiro syndromeSALL4
Acro-renal-ocular syndromeSALL4
Holt-Oram syndromeSALL4
Cranial midline defects/ mild Okihiro syndromeSALL4
Tumoural calcinosis, normophosphataemicSAMD9
Chylomicron retention diseaseSAR1B
Chylomicron retention disease with Marinesco-Sjogren syndromeSAR1B
Disseminated superficial actinic porokeratosisSART3
Shwachman-Diamond syndromeSBDS
Charcot-Marie-Tooth disease 4b2SBF2
LathosterolosisSC5DL
Generalized epilepsy of infancySCN1A
Generalized epilepsy with febrile seizures plusSCN1A
Hemiplegic migraineSCN1A
Myoclonic epilepsy of infancySCN1A
Febrile seizuresSCN1A
Generalised epilepsy with febrile seizures plus 2SCN1A
Epilepsy, generalised, with febrile seizuresSCN1B
Febrile and afebrile seizuresSCN2A
Neonatal-infantile seizuresSCN2A
Intractable epilepsy and mental declineSCN2A
Normokalaemic periodic paralysisSCN4A
Hyperkalaemic periodic paralysisSCN4A
MyotoniaSCN4A
Paramyotonia congenitaSCN4A
Paramyotonia congenita, von EulenburgSCN4A
Hypokalaemic periodic paralysisSCN4A
Cardiac conduction diseaseSCN5A
Brugada syndromeSCN5A
Lenegre-Lev diseaseSCN5A
Brugada syndrome, asymptomaticSCN5A
Sudden unexplained nocturnal death syndromeSCN5A
Atrial standstillSCN5A
Sudden adult death syndromeSCN5A
Long QT syndromeSCN5A
Romano-Ward syndromeSCN5A
Sudden infant death syndromeSCN5A
Atrioventricular conduction blockSCN5A
Ventricular fibrillation, idiopathicSCN5A
Nodal rhythmSCN5A
Cardiomyopathy, dilatedSCN5A
Long QT syndrome, drug-associatedSCN5A
AtaxiaSCN8A
Erythermalgia, primarySCN9A
Pseudohypoaldosteronism 1SCNN1A
Cystic fibrosis, non-classicSCNN1A
Cystic fibrosis, non-classicSCNN1B
HypertensionSCNN1B
Pseudohypoaldosteronism 1SCNN1B
Liddle syndromeSCNN1B
Liddle syndromeSCNN1G
HypertensionSCNN1G
Pseudohypoaldosteronism 1SCNN1G
Cytochrome c oxidase deficiencySCO1
Cytochrome c oxidase deficiencySCO2
SCP2 deficiencySCP2
Complex II deficiencySDHA
Leigh syndromeSDHA
Optic atrophy, ataxia, myopathySDHA
ParagangliomaSDHB
Phaeochromocytoma and paragangliomaSDHB
PhaeochromacytomaSDHB
Paraganglioma, autosomal dominant 3SDHC
ParagangliomaSDHC
ParagangliomaSDHD
PhaeochromocytomaSDHD
Paraganglioma and phaeochromocytomaSDHD
Cranio-lenticulo-sutural dysplasiaSEC23A
Polycystic liver diseaseSEC63
Abnormal thyroid hormone metabolismSECISBP2
CHARGE syndromeSEMA3E
Retinitis pigmentosaSEMA4A
SEPN-related myopathySEPN1
Multiminicore diseaseSEPN1
Mallory body-like inclusionsSEPN1
Rigid spine muscular dystrophy 1SEPN1
Neuritis with brachial predilection, NAPBSEPT9
Darier diseaseserca2b
Antitrypsin alpha 1 deficiencySERPINA1
AsthmaSERPINA1
Venous thromboembolic diseaseSERPINA10
Obstructive lung diseaseSERPINA3
Occlusive cerebrovascular diseaseSERPINA3
Corticosteroid-binding globulin deficiencySERPINA6
Thyroxine-binding globulin deficiencySERPINA7
Thyroxine-binding globulin excessSERPINA7
Antithrombin deficiencySERPINC1
Heparin cofactor 2 deficiencySERPIND1
Plasminogen activator inhibitor 1 deficiencySERPINE1
Antiplasmin alpha 2 deficiencySERPINF2
Angioneurotic oedemaSERPING1
Dementia, familialSERPINI1
Amyotrophic lateral sclerosis 4, juvenileSETX
Ataxia-ocular apraxia 2SETX
Ataxia with neuropathySETX
Hirschsprung diseaseSFRS2IP
Surfactant protein B deficiency, partialSFTPB
Pulmonary alveolar proteinosisSFTPB
Surfactant protein B deficiencySFTPB
Respiratory failure, neonatalSFTPC
Interstitial lung diseaseSFTPC
Muscular dystrophy, Duchenne-likeSGCA
Muscular dystrophy, limb girdleSGCA
Muscular dystrophy, Duchenne-likeSGCB
Muscular dystrophy, progressiveSGCB
Muscular dystrophy, limb girdleSGCB
Muscular dystrophy, limb girdleSGCD
Cardiomyopathy, dilatedSGCD
Cardiomyopathy, dilatedsgcdp
Myoclonus dystoniaSGCE
Muscular dystrophy, BeckerSGCG
Muscular dystrophy, limb girdleSGCG
Sanfilippo syndrome ASGSH
Non-Hodgkin lymphomaSH2D1A
Lymphoproliferative syndrome, X-linkedSH2D1A
Haemophagocytic lymphohistiocytosisSH2D1A
Immunodeficiency syndrome, common variableSH2D1A
CherubismSH3BP2
Charcot-Marie-Tooth disease 4CSH3TC2
22q13 deletion syndromeSHANK3
HyperandrogenismSHBG
Solitary median maxillary central incisorSHH
Preaxial polydactylySHH
Interhemispheric fusion, single nostril noseSHH
HoloprosencephalySHH
Colobomatous microphalmiaSHH
Leri-Weill dyschondrosteosisSHOX
Langer mesomelic dysplasiaSHOX
Madelung deformitySHOX
Short statureSHOX
Leri-Weill dyschondrosteosisshoxb
Mental retardation, X-linkedSHROOM4
Sucrase isomaltase deficiencySI
Marinesco-Sjogren syndromeSIL1
Obesity, profoundSIM1
Branchio-otic syndromeSIX1
HoloprosencephalySIX3
Cataract formation in myotonic dystrophySIX5
Anophthalmia/microphthalmiaSIX6
Bile acid malabsorption, primarySLC10A2
Anaemia, hypochromic microcyticSLC11A2
Bartter syndromeSLC12A1
Bartter syndrome, antenatalSLC12A1
Gitelman syndromeSLC12A3
Peripheral neuropathy and corpus callosum agenesisSLC12A6
Erythrocyte lactate transport deficiencySLC16A1
Monocarboxylate transporter 8 deficiencySLC16A2
Allan-Herndon-Dudley syndromeSLC16A2
Putamen lesions & low T4 in cerebrospinal fluidSLC16A2
Sialic acid storage disease, infantileSLC17A5
Salla diseaseSLC17A5
Megaloblastic anaemia, thiamine responsiveSLC19A2
Basal ganglia disease, biotin-responsiveSLC19A3
Episodic ataxia/hemiplegia/seizuresSLC1A3
Hypouricaemia, renalSLC22A12
Carnitine deficiency, systemic primarySLC22A5
Intrahepatic cholestasis, neonatalSLC25A13
Citrullinaemia, adult onset, type IISLC25A13
Citrullinaemia, neonatal onset, type IISLC25A13
Hepatitis, idiopathic neonatalSLC25A13
Citrullinaemia, infantileSLC25A13
HHH syndromeSLC25A15
MicrocephalySLC25A19
Carnitine-acylcarnitine carrier deficiencySLC25A20
Myoclinic epilepsy, neonatalSLC25A22
Mito. myopathy & hypertrophic cardiomyopathySLC25A4
Progressive external ophthalmoplegiaSLC25A4
Achondrogenesis 1BSLC26A2
Diastrophic dysplasiaSLC26A2
Diastrophic dysplasia/Multiple Epiphyseal dyspl.SLC26A2
Atelosteogenesis 2 / diastrophic dysplasiaSLC26A2
Atelosteogenesis 2SLC26A2
Diarrhoea, congenital chlorideSLC26A3
Enlarged vestibular aqueductSLC26A4
Enlarged vestibular aqueduct & Mondini dysplasiaSLC26A4
Enlarged vestibular aqueduct & vestib. dilatationSLC26A4
Deafness, non-syndromic, autosomal recessiveSLC26A4
Hearing lossSLC26A4
Pendred syndromeSLC26A4
Deafness, non-syndromicSLC26A5
Glucose transporter 1 deficiency syndromeSLC2A1
Arterial tortuosity syndromeSLC2A10
Fanconi-Bickel syndromeSLC2A2
Diabetes, NIDDMSLC2A2
Diabetes, NIDDMSLC2A4
NephrolithiasisSLC34A1
Osteoporosis with hypophosphataemiaSLC34A1
Pulmonary alveolar microlithiasisSLC34A2
Hereditary hypophosphataemic rickets with hypercalciuriaSLC34A3
Congenital disorder of glycosylation 2cSLC35C1
Glycogen storage disease 1cSLC37A4
Glycogen storage disease 1dSLC37A4
Glycogen storage disease 1 non-aSLC37A4
Glycogen storage disease 1bSLC37A4
Acrodermatitis enteropathicaSLC39A4
CystinuriaSLC3A1
Hypotonia-Cystinuria syndromeSLC3A1
HyperferritinaemiaSLC40A1
Haemochromatosis, type 4SLC40A1
Iron overloadSLC40A1
Oculocutaneous albinism 4SLC45A2
AnaemiaSLC4A1
AcanthocytosisSLC4A1
Distal renal tubular acidosisSLC4A1
SpherocytosisSLC4A1
OvalocytosisSLC4A1
Erythrocyte band 3 deficiencySLC4A1
Corneal endothelial dystrophy 2SLC4A11
Proximal renal tubular acidosisSLC4A4
Glucose / galactose malabsorptionSLC5A1
Renal glucosuriaSLC5A2
Iodide transport defectSLC5A5
Hartnup disorderSLC6A19
Orthostatic intolerance and tachycardiaSLC6A2
Bipolar affective disorderSLC6A3
HyperekplexiaSLC6A5
Mental retardationSLC6A8
Creatine deficiencySLC6A8
Lysinuric protein intoleranceSLC7A7
Cystinuria, non-type ISLC7A9
CystinuriaSLC7A9
Cystinuria, type ISLC7A9
Cystinuria, type I/IIISLC7A9
Attention deficit hyperactivity disorderSLC9A9
Pravastatin-induced myopathySLCO1B1
Tourette syndromeSLITRK1
Mal de MeledaSLURP1
OsteoarthritisSMAD3
Juvenile polyposis syndromeSMAD4
Juvenile polyposis coliSMAD4
Juvenile polyposis and haemorrhagic telangiectasiaSMAD4
Schimke immuno-osseous dysplasiaSMARCAL1
Rhabdoid tumourSMARCB1
Rhabdoid predisposition syndromeSMARCB1
Posterior fossa brain tumoursSMARCB1
CNS Atypical Teratoid/Rhabdoid tumoursSMARCB1
Brain and Kidney tumoursSMARCB1
Kidney tumoursSMARCB1
Cornelia de Lange syndromeSMC1A
Spinal muscular atrophySMN1
Spinal muscular atrophySMN2
Niemann-Pick diseaseSMPD1
Snyder-Robinson syndromeSMS
Waardenburg syndromeSNAI2
Neural tube defectSNAI2
CEDNIK syndromeSNAP29
Parkinson diseaseSNCA
Parkinson diseaseSNCAIP
Dementia with Lewy bodiesSNCB
Angelman syndromeSNRPN
Prader-Willi syndromeSNRPN
Motor neuron diseaseSOD1
Amyotrophic lateral sclerosisSOD1
Gingival fibromatosisSOS1
van Buchem diseaseSOST
SclerosteosisSOST
Yemenite deaf-blind hypopigmentation syndromeSOX10
Peripheral neuropathy with hypomyelinationSOX10
PCWHSOX10
Shah-Waardenburg syndrome and neuropathySOX10
Shah-Waardenburg syndromeSOX10
Hypotrichosis-Lymphoedema-TelangiectasiaSOX18
Anophthalmia-oesophageal-genital syndromeSOX2
Hypothalamo-pituitary-gonadal axis abnormalitiesSOX2
AnophthalmiaSOX2
Anophthalmia, hearing loss and brain abnormalitiesSOX2
Anophthalmia-esophageal-genital syndromeSOX2
HypoparathyroidismSOX3
Mental retardation with growth hormone deficiencySOX3
HypopituitarismSOX3
Acampomelic campomelic dysplasia with XY reversalSOX9
Acampomelic campomelic dysplasiaSOX9
Campomelic dysplasiaSOX9
Hepatic venoocclusive disease with immunodef.SP110
Spastic paraplegiaSPAST
Spastic paraplegia, autosomal dominantSPAST
Upper motor neuron syndrome, adult onsetSPAST
Spastic paraparesisSPAST
Troyer syndromeSPG20
Mast syndromeSPG21
Spastic paraplegia 3SPG3A
Spastic paraplegiaSPG7
Pancreatitis, chronicSPINK1
Netherton syndromeSPINK5
Tetrahydrobiopterin deficiencySPR
Dystonia, dopa-responsiveSPR
ElliptocytosisSPTA1
Poikilocytic anaemiaSPTA1
SpherocytosisSPTA1
Hydrops fetalisSPTB
SpherocytosisSPTB
ElliptocytosisSPTB
Spinocerebellar ataxia type 5SPTBN2
Neuropathy, hereditary sensory, type ISPTLC1
Paget disease of boneSQSTM1
Steroid-5 alpha-reductase deficiencySRD5A2
HypospadiasSRD5A2
Male pseudohermaphroditismSRD5A2
Diabetes, type 2SREBF1
Retinitis pigmentosaSRPX
Rolandic epilepsy, oral dyspraxia, mental retardationSRPX2
Rolandic epilepsy, bilateral perisylvian polymicrogyriaSRPX2
Gonadal dysgenesisSRY
XY sex reversalSRY
HermaphroditismSRY
Porokeratosis, disseminated superficial actinic, 1SSH1
Somatostatin analog resistanceSSTR5
Amish infantile epilepsy syndromeST3GAL5
Congenital lipoid adrenal hyperplasiaSTAR
Impaired mycobacterial immunitySTAT1
Growth hormone insensitivitySTAT5B
Juvenile polyposis coliSTK11
Peutz-Jeghers syndromeSTK11
Deafness, non-syndromicSTRC
IchthyosisSTS
Haemophagocytic lymphohistiocytosis, familialSTX11
Mitochondrial DNA depletion syndromeSUCLA2
Medulloblastoma, predisposition toSUFU
Multiple sulphatase deficiencySUMF1
Sulphite oxidase deficiencySUOX
Leigh syndromeSURF1
EncephalopathySURF1
Cytochrome c oxidase deficiencySURF1
AzoospermiaSYCP3
EpilepsySYN1
Corneal dystrophy, gelatinous drop-likeTACSTD2
Transaldolase deficiencyTALDO1
Bare lymphocyte syndromeTAP1
HLA class I deficiencyTAP1
HLA class I deficiencyTAP2
Tapasin deficiencyTAPBP
Tyrosinaemia 2TAT
Cardiomyopathy, X-linked infantileTAZ
Left ventricular noncompactionTAZ
Barth syndromeTAZ
Hypoparathyroidism-retardation-dysmorphic syndromeTBCE
Sensorineural deafness, late onset, X-linkedTBL1X
AtaxiaTBP
Creutzfeldt-Jakob disease, variantTBP
Velocardiofacial syndromeTBX1
DiGeorge syndrome/Velocardiofacial syndromeTBX1
DiGeorge syndromeTBX1
Conotruncal anomaly face syndromeTBX1
Cardiovascular defectsTBX1
ACTH deficiency, isolatedTBX19
Cleft palate and ankyloglossiaTBX22
Cleft palateTBX22
Ulnar-mammary syndromeTBX3
Small patella syndromeTBX4
Holt-Oram syndromeTBX5
Thromboxane A2 receptor deficiencyTBXA2R
Cardiomyopathy, hypertrophicTCAP
Muscular dystrophy, limb girdle 2GTCAP
Cardiomyopathy, dilatedTCAP
Various neurological abnormalitiesTCBA1
Developmental delay and recurrent infectionTCBA1
Sensorineural hearing lossTCF21
Cardiomyopathy, dilatedTCF21
Osteopetrosis, autosomal recessiveTCIRG1
Osteopetrosis, infantile malignantTCIRG1
Transcobalamin II deficiencyTCN2
Treacher-Collins syndromeTCOF1
Treacher-Collins syndrometcof16a
Forebrain defectsTDGF1
Spinocerebellar ataxia with axonal neuropathyTDP1
Deafness, autosomal dominant 8TECTA
DeafnessTECTA
Deafness, autosomal recessive 21TECTA
Deafness, autosomal dominant 12TECTA
Venous malformationTEK
Aplastic anaemiaTERC
Dyskeratosis congenita, autosomal dominantTERC
Dyskeratosis congenita & myelodysplastic syndromeTERC
Aplastic anaemiaTERT
Defective telomere maintainance in Cri du Chat syndromeTERT
Dyskeratosis congenitaTERT
HypotransferrinemiaTF
AtransferrinaemiaTF
Char syndromeTFAP2B
HaemochromatosisTFR2
Altered iron statusTFR2
Goitre with hypothyroidismTG
Goitre, congenitalTG
Goitre, adenomatousTG
Goitre, simpleTG
HypothyroidismTG
Camurati-Engelmann diseaseTGFB1
Arrhythmogenic right ventricular dysplasiaTGFB3
Corneal dystrophy, Reis-BucklersTGFBI
Corneal dystrophy, granularTGFBI
Corneal dystrophy, lattice type 3ATGFBI
Corneal dystrophy, lattice type 1TGFBI
Corneal dystrophy, Groenouw type 1TGFBI
Corneal dystrophy, AvellinoTGFBI
Corneal dystrophy, epithelial basement membraneTGFBI
Corneal dystrophy, lattice typeTGFBI
Furlong syndromeTGFBR1
Loeys-Dietz aortic aneurysm syndromeTGFBR1
Marfan syndrome IITGFBR1
Aortic aneurysm, thoracicTGFBR1
Loeys-Dietz aortic aneurysm syndromeTGFBR2
Aortic aneurysm, thoracicTGFBR2
Marfan syndrome IITGFBR2
Colorectal cancer, non-polyposisTGFBR2
Shprintzen-Goldberg syndromeTGFBR2
Holoprosencephaly and moyamoya diseaseTGIF1
HoloprosencephalyTGIF1
Ichthyosis, lamellarTGM1
Peeling skin syndromeTGM5
Tyrosine hydroxylase deficiencyTH
Parkinsonism, L-DOPA-responsiveTH
Extrapyramidal movement disorderTH
Dystonia, L-DOPA-responsiveTH
Segawa syndromeTH
Myocardial infarctionTHBD
Late foetal lossTHBD
Thrombocythaemia, essentialTHPO
Congenital heart defectTHRAP2
Thyroid hormone resistanceTHRB
Mohr-Tranebjaerg syndromeTIMM8A
Jensen syndromeTIMM8A
Fundus dystrophy, SorsbyTIMP3
Hypothyroidism & benign choreaTITF1
Benign hereditary choreaTITF1
Dyskinesia, resp. distress, hypothyrotropinaemiaTITF1
Thyroid dysfunction and respiratory failureTITF1
HypothyroidismTITF1
Brain-thyroid-lung syndromeTITF1
HypercholanaemiaTJP2
Mitochondrial DNA depletion syndromeTK2
DeafnessTMC1
Epidermodysplasia verruciformisTMC6
Epidermodysplasia verruciformisTMC8
Severe combined immune deficiency syndromeTMEM142A
Gnathodiaphyseal dysplasiaTMEM16E
Meckel syndromeTMEM67
DeafnessTMIE
Cardiomyopathy, dilatedTMPO
Neurosensory deafnessTMPRSS3
Deafness, childhood onsetTMPRSS3
Squamous cell carcinoma, head and neckTNFRSF10B
Familial Paget disease of boneTNFRSF11A
Familial expansile osteolysisTNFRSF11A
Expansile skeletal hyperphosphatasiaTNFRSF11A
Paget disease, juvenileTNFRSF11B
Immunodeficiency, common variableTNFRSF13B
Periodic fever with amyloidosisTNFRSF1A
Periodic fever, autosomal dominantTNFRSF1A
Periodic fever with AA amyloidosisTNFRSF1A
Juvenile idiopathic arthritisTNFRSF1A
Systemic lupus erythematosusTNFRSF1A
Cardiomyopathy, dilatedTNNC1
Cardiomyopathy, hypertrophicTNNC1
Distal arthrogryposis syndrome 2bTNNI2
Increased left ventricular wall thicknessTNNI3
Cardiomyopathy, restrictiveTNNI3
Cardiomyopathy, hypertrophicTNNI3
Nemaline myopathy, Amish typeTNNT1
Cardiomyopathy, dilatedTNNT2
Increased left ventricular wall thicknessTNNT2
Cardiomyopathy, hypertrophicTNNT2
Distal arthrogryposis syndrome 2bTNNT3
Ehlers-Danlos syndrome, autosomal recessiveTNXB
Tenascin-X deficiencyTNXB
Torsion-A deficiencyTOR1A
Torsion dystonia, early onsetTOR1A
Cytosarcoma phyllodesTP53
EpendymomaTP53
Neuroectodermal tumourTP53
AstrocytomaTP53
Leukaemia/lymphomaTP53
RhabdomyosarcomaTP53
NeuroblastomaTP53
Thyroid tumourTP53
Choroid plexus tumoursTP53
Colorectal cancerTP53
Adrenocortical carcinomaTP53
Multiple cancersTP53
Lung cancerTP53
GliomaTP53
AdenocarcinomaTP53
Li-Fraumeni syndromeTP53
Bone cancerTP53
MedulloblastomaTP53
Breast cancerTP53
SarcomaTP53
CarcinomaTP53
MeningiomaTP53
Familial brain tumour syndromeTP53
GlioblastomaTP53
Gastric cancerTP53
Familial adenomatous polyposisTP53
Choroid plexus carcinoma, childhoodTP53
Li-Fraumeni-like syndromeTP53
OsteosarcomaTP53
Limb-mammary syndromeTP63
Rapp-Hodgkin syndromeTP63
Split-hand/split-foot malformationTP63
Cleft lip, non-syndromicTP63
EEC syndromeTP63
ADULT syndromeTP63
AEC syndromeTP63
ADULT syndrometp73lae3
Triosephosphate isomerase deficiencyTPI1
Cardiomyopathy, hypertrophicTPM1
Cardiomyopathy, dilatedTPM1
Distal arthrogryposis syndrome 1TPM2
Nemaline myopathyTPM2
Nemaline myopathyTPM3
HypothyroidismTPO
GoitreTPO
Goitrous hypothyroidismTPO
Partial iodide organification defectTPO
Thyroid peroxidase deficiencyTPO
Total iodide organification defectTPO
Neuronal ceroid lipofuscinosis, late infantileTPP1
Neuronal ceroid lipofuscinosis, juvenileTPP1
Spondyloepiphyseal dysplasia tardaTRAPPC2
Presenile dementia with bone cystsTREM2
Aicardi-Goutieres syndromeTREX1
Isolated central hypothyroidismTRHR
Muscular dystrophy, limb girdle 2HTRIM32
Bardet-Biedl syndromeTRIM32
Mulibrey nanismTRIM37
Deafness, non-syndromicTRIOBP
Phenotype modifierTRMU
Focal segmental glomerulosclerosisTRPC6
Hypomagnesaemia with secondary hypocalcaemiaTRPM6
Tricho-rhino-phalangeal syndrome ITRPS1
Tricho-rhino-phalangeal syndromeTRPS1
Tricho-rhino-phalangeal syndrome IIITRPS1
Tuberous sclerosisTSC1
LymphangioleiomyomatosisTSC1
Tuberous sclerosis with inf. polycystic kidneysTSC2
Tuberous sclerosisTSC2
Multiple congenital abnormalitiesTSC2
LymphangiokiomyomatosisTSC2
Tuberous sclerosis and lymphangiomyomatosisTSC2
Thyroid-stimulating hormone deficiencyTSHB
HypothyroidismTSHB
Hyperfunctioning thyroid nodulesTSHR
HyperthyroidismTSHR
ThyrotoxicosisTSHR
HypothyroidismTSHR
Thyroid hyperplasiaTSHR
Hyperthyroidism, nonautoimmuneTSHR
Thyroid-stimulating hormone resistanceTSHR
Hyperthyroidism, gestationalTSHR
Mental retardation, X-linkedTSPAN7
Sudden infant death with dysgenesis of the testesTSPYL1
Bardet-Biedl syndromeTTC8
Cardiomyopathy, dilatedTTN
Cardiomyopathy, hypertrophicTTN
Tibial muscular dystrophyTTN
Ataxia, isolated vitamin E deficiencyTTPA
Alpha-tocopherol transfer protein deficiencyTTPA
Spinocerebral dysfunctionTTPA
Amyloidosis, oculoleptomeningealTTR
Euthyroid hyperthyroxinaemiaTTR
AmyloidosisTTR
Amyloidosis, meningocerebrovascularTTR
Amyloidosis, cardiacTTR
CardiomyopathyTTR
Amyloidotic vitreous opacitiesTTR
Amyloidotic polyneuropathyTTR
Retinitis pigmentosaTULP1
Leber congenital amaurosisTULP1
Robinow-Sorauf syndromeTWIST1
Baller-Gerold syndromeTWIST1
Synostotic frontal plagiocephalyTWIST1
Saethre-Chotzen syndromeTWIST1
Mitochondrial neurogastrointestinal encephalopathyTYMP
Peripheral neuropathy with intestinal pseudo-occlusionTYMP
Albinism, oculocutaneous 1TYR
Albinism, oculocutaneous 1BTYR
Albinism, oculocutaneous 1ATYR
Nasu-Hakola diseaseTYROBP
Albinism, oculocutaneous 3TYRP1
Mental retardation, X-linkedUBE2A
Angelman syndromeUBE3A
Johanson-Blizzard syndromeUBR1
Parkinson diseaseUCHL1
Obesity, severe, with diabetesUCP3
Catch 22 syndromeUFD1L
Cardiac and craniofacial defectUFD1L
Crigler-Najjar syndrome 1UGT1A1
Crigler-Najjar syndrome 2UGT1A1
Gilbert syndromeUGT1A1
Crigler-Najjar syndrome 2UGT1A4
FJHN/MCKD syndromeUMOD
Glomerulocystic kidney diseaseUMOD
Hyperuricaemic nephropathy, juvenileUMOD
Medullary cystic kidney disease 2UMOD
Oroticaciduria 1UMPS
Haemophagocytic lymphohistiocytosis, familialUNC13D
Immunodeficiency with hyper-IgMUNG
Ureidopropionase deficiencyUPB1
Renal adysplasiaUPK3A
Renal hypodysplasiaUPK3A
Complex III deficiencyUQCRB
PorphyriaUROD
Porphyria, hepatoerythropoieticUROD
Porphyria, cutanea tardaUROD
Porphyria, erythropoieticUROS
Nonsyndromic deafnessUSH1C
Usher syndrome 1cUSH1C
Deafness, non-syndromicush1cpst
Usher syndrome 1gUSH1G
Retinitis pigmentosa, recessive, no hearing lossUSH2A
Usher syndrome 2aUSH2A
Azoospermia / oligozoospermiaUSP26
Infertility, idiopathicUSP9Y
AzoospermiaUSP9Y
Amyotrophic lateral sclerosisVAPB
Wagner syndromeVCAN
Cardiomyopathy, hypertrophicVCL
IBMPFDVCP
AtrichiaVDR
Rickets, vitamin D resistantVDR
Von Hippel-Lindau syndrome & pheochromocytomasVHL
Polycythaemia, with high epo concentrationVHL
Pancreatic cancerVHL
Von Hippel-Lindau syndromeVHL
PhaeochromocytomaVHL
HaemangioblastomaVHL
Phaeochromocytoma and paragangliomaVHL
Warfarin resistanceVKORC1
Vit. K-depend. clot. factors, deficiency, type 2VKORC1
Dysequilibrium syndromeVLDLR
Chorea-acanthocytosisVPS13A
Cohen syndromeVPS13B
Arthrogryposis, renal dysfunction and cholestasisVPS33B
KeratoconusVSX1
Craniofacial and anterior segment developmental abnormalitiesVSX1
Inner retina abnormalityVSX1
Posterior polymorphous dystrophyVSX1
Von Willebrand disease 2cVWF
Von Willebrand diseaseVWF
Von Willebrand disease 2VWF
Von Willebrand disease 2mVWF
Von Willebrand disease 3VWF
Von Willebrand disease 1VWF
Von Willebrand disease 2bVWF
Von Willebrand, Normandy variantVWF
Von Willebrand disease 2nVWF
Von Willebrand disease 2n/1VWF
Von Willebrand disease 2aVWF
Neutropaenia, severe congenital, X-linkedWAS
Wiskott-Aldrich syndromeWAS
ThrombocytopaeniaWAS
Glaucoma, primary open angleWDR36
Wolfram syndromeWFS1
Diabetes, type 1, and sensorineural hearing lossWFS1
Optic atrophy, autosomal dominant, with hearing impairmentWFS1
Sensorineural hearing lossWFS1
Spondyloepiphyseal dysplasia tarda and arthropathyWISP3
Pseudorheumatoid dysplasia, progressiveWISP3
Pseudohypoaldosteronism 2WNK1
Pseudohypoaldosteronism 2WNK4
Tetra-ameliaWNT3
Rokitansky-Kuster-Hauser syndromeWNT4
Fuhrmann syndromeWNT7A
Ulnar and fibula absence, with severe limb deficiencyWNT7A
Werner syndromeWRN
Frasier syndromeWT1
Nephrotic syndromeWT1
Focal segmental glomerulosclerosisWT1
Diffuse mesangial sclerosisWT1
Denys-Drash syndromeWT1
HypospadiasWT1
Wilms tumour, adultWT1
Wilms tumourWT1
Xanthinuria, type 1XDH
X-chromosome inactivation, familial, skewedXIST
McLeod syndromeXK
Xeroderma pigmentosum (A)XPA
Xeroderma pigmentosum (C)XPC
XRCC3 deficiencyXRCC3
Mitomycin-C resistanceXRCC3
Charcot-Marie-Tooth diseaseYARS
Immunodeficiency, T-cell defectZAP70
CD8 deficiencyZAP70
Immunodeficiency, severe combinedZAP70
Posterior polymorphous corneal dystrophyZEB1
Hirschsprung disease-structural eye anomaliesZEB2
Hirschsprung disease-mental retardation syndromeZEB2
Mowat-Wilson syndromeZEB2
Tetralogy of FallotZFPM2
Dandy-Walker malformationZIC1
HoloprosencephalyZIC2
Situs abnormalityZIC3
Cardiac malformationZIC3
Mandibuloacral dysplasiaZMPSTE24
Restrictive dermopathyZMPSTE24
Hutchinson-Gilford progeria syndromeZMPSTE24
Mental retardationZNF41
Mental retardation, X-linkedZNF674
Seborrhea-like dermat. with psoriasiform elementsZNF750
Mental retardation, X-linkedZNF81