| ABCA1 | 0 |
| ABCA12 | 0 |
| ABCA4 | 0 |
| ABCC9 | 0 |
| ABHD5 | 0 |
| ABL1 | 0 |
| ACAN | 0 |
| ACTA1 | 0 |
| ACTA2 | 0 |
| ACTC1 | 0 |
| ACTG1 | 0 |
| ACTN2 | 0 |
| ACVR2B | 0 |
| ADAM9 | 0 |
| ADAMTS10 | 0 |
| ADAMTSL4 | 0 |
| AHI1 | 0 |
| AIPL1 | 0 |
| ALOX12B | 0 |
| ALOXE3 | 0 |
| ALS2 | 0 |
| ANG | 0 |
| ANK2 | 0 |
| APOA1 | 0 |
| APOA2 | 0 |
| APOE | 0 |
| APP | 0 |
| ARL13B | 0 |
| ARL6 | 0 |
| ARVCF | 0 |
| ATP13A2 | 0 |
| ATP1A2 | 0 |
| ATP6AP2 | 0 |
| ATP6V0A2 | 0 |
| ATP7A | 0 |
| ATXN1 | 0 |
| ATXN2 | 0 |
| ATXN3 | 0 |
| ATXN7 | 0 |
| ATXN8 | 0 |
| Abdominal aortic aneurysm, familial form | 0 |
| Achondrogenesis | 0 |
| Achondrogenesis, type 2 | 0 |
| Achromatopsia | 0 |
| Acrocapitofemoral dysplasia | 0 |
| Acromesomelic dysplasia, Grebe type | 0 |
| Acromesomelic dysplasia, Hunter-Thomson type | 0 |
| Acute inflammatory demyelinating polyradiculoneuropathy | 0 |
| Adult-onset proximal spinal muscular atrophy, autosomal dominant | 0 |
| Alagille syndrome | 0 |
| Aland Island eye disease | 0 |
| Alexander disease | 0 |
| Alpha-cristallinopathy | 0 |
| Alternating hemiplegia of childhood | 0 |
| Alzheimer disease, familial | 0 |
| Amish nemaline myopathy | 0 |
| Amyloid nephropathy, familial | 0 |
| Amyloidosis | 0 |
| Amyotrophic lateral sclerosis | 0 |
| Anophthalmia - Microphthalmia, isolated | 0 |
| Aortic aneurysm syndrome, Loeys-Dietz type | 0 |
| Aphakia, primary, congenital | 0 |
| Apolipoprotein A-I deficiency | 0 |
| Arrhythmogenic right ventricular dysplasia | 0 |
| Arthropathy progressive pseudorheumatoid of childhood | 0 |
| Ataxia, familial paroxysmal | 0 |
| Ataxia, spinocerebellar, autosomal dominant, type 7 | 0 |
| Ataxia, spinocerebellar, type 1 | 0 |
| Ataxia, spinocerebellar, type 12 | 0 |
| Ataxia, spinocerebellar, type 14 | 0 |
| Ataxia, spinocerebellar, type 17 | 0 |
| Ataxia, spinocerebellar, type 2 | 0 |
| Ataxia, spinocerebellar, type 27 | 0 |
| Ataxia, spinocerebellar, type 3 | 0 |
| Ataxia, spinocerebellar, type 5 | 0 |
| Ataxia, spinocerebellar, type 6 | 0 |
| Ataxia, spinocerebellar, type 8 | 0 |
| Atelosteogenesis I | 0 |
| Atelosteogenesis, type II | 0 |
| Atelosteogenesis, type III | 0 |
| Atrial cardiomyopathy with heart block | 0 |
| Atrial fibrillation, familial | 0 |
| Atrial septal defect - atrioventricular conduction defects | 0 |
| Atrioventricular canal, complete | 0 |
| Atrioventricular canal, partial | 0 |
| Autosomal dominant Charcot-Marie-Tooth disease, type 2 | 0 |
| Autosomal dominant Charcot-Marie-Tooth disease, type 2A1 | 0 |
| Autosomal dominant Charcot-Marie-Tooth disease, type 2A2 | 0 |
| Autosomal dominant Charcot-Marie-Tooth disease, type 2B | 0 |
| Autosomal dominant Charcot-Marie-Tooth disease, type 2D | 0 |
| Autosomal dominant Charcot-Marie-Tooth disease, type 2E | 0 |
| Autosomal dominant Charcot-Marie-Tooth disease, type 2F | 0 |
| Autosomal dominant Charcot-Marie-Tooth disease, type 2I | 0 |
| Autosomal dominant Charcot-Marie-Tooth disease, type 2J | 0 |
| Autosomal dominant Charcot-Marie-Tooth disease, type 2K | 0 |
| Autosomal dominant Charcot-Marie-Tooth disease, type 2L | 0 |
| Autosomal dominant centronuclear myopathy | 0 |
| Autosomal dominant cerebellar ataxia | 0 |
| Autosomal dominant intermediate Charcot-Marie-Tooth disease | 0 |
| Autosomal dominant intermediate Charcot-Marie-Tooth disease, type B | 0 |
| Autosomal dominant intermediate Charcot-Marie-Tooth disease, type C | 0 |
| Autosomal dominant intermediate Charcot-Marie-Tooth disease, type D | 0 |
| Autosomal dominant limb-girdle muscular dystrophy, type 1B | 0 |
| Autosomal dominant limb-girdle muscular dystrophy, type 1C | 0 |
| Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | 0 |
| Autosomal recessive Charcot-Marie-Tooth disease, type 2 | 0 |
| Autosomal recessive centronuclear myopathy | 0 |
| Autosomal recessive cerebellar ataxia | 0 |
| Autosomal recessive limb-girdle muscular dystrophy, type 2G | 0 |
| Autosomal recessive limb-girdle muscular dystrophy, type 2H | 0 |
| Autosomal recessive limb-girdle muscular dystrophy, type 2I | 0 |
| Autosomal recessive limb-girdle muscular dystrophy, type 2J | 0 |
| Autosomal recessive limb-girdle muscular dystrophy, type 2K | 0 |
| Autosomal recessive multiple pterygium syndrome | 0 |
| Avascular necrosis of femoral head, familial form | 0 |
| BAZ1B | 0 |
| BBS1 | 0 |
| BBS10 | 0 |
| BBS12 | 0 |
| BBS2 | 0 |
| BBS4 | 0 |
| BBS5 | 0 |
| BBS7 | 0 |
| BBS9 | 0 |
| BCKDHA | 0 |
| BCKDHB | 0 |
| BCL7B | 0 |
| BCR | 0 |
| BCS1L | 0 |
| BFSP1 | 0 |
| BFSP2 | 0 |
| BIN1 | 0 |
| BMP2 | 0 |
| BMPR1B | 0 |
| BSND | 0 |
| Bardet-Biedl syndrome | 0 |
| Barth syndrome | 0 |
| Bartter syndrome | 0 |
| Bartter syndrome, ''classical'' form | 0 |
| Bartter syndrome, antenatal form | 0 |
| Benign familial infantile seizures | 0 |
| Benign familial neonatal seizures | 0 |
| Benign familial neonatal-infantile seizures | 0 |
| Benign paroxysmal torticollis of infancy | 0 |
| Bjoernstad syndrome | 0 |
| Boomerang dysplasia | 0 |
| Bothnia retinal dystrophy | 0 |
| Brachydactyly | 0 |
| Brachydactyly, type A1 | 0 |
| Brachydactyly, type A2 | 0 |
| Brachydactyly, type B | 0 |
| Brachydactyly, type B2 | 0 |
| Brachydactyly, type C | 0 |
| Brachydactyly, type D | 0 |
| Brachydactyly, type E | 0 |
| Brachydactyly-syndactyly, Zhao type | 0 |
| Brugada syndrome | 0 |
| Butterfly-shaped pigment dystrophy | 0 |
| C14orf104 | 0 |
| C1QTNF5 | 0 |
| C20orf7 | 0 |
| C8orf38 | 0 |
| CA4 | 0 |
| CABP4 | 0 |
| CACNA1A | 0 |
| CACNA1C | 0 |
| CACNA1F | 0 |
| CACNA1S | 0 |
| CACNA2D4 | 0 |
| CACNB4 | 0 |
| CARASIL syndrome | 0 |
| CASQ2 | 0 |
| CATSPER2 | 0 |
| CAV3 | 0 |
| CBFB | 0 |
| CC2D2A | 0 |
| CCDC50 | 0 |
| CDH23 | 0 |
| CEP290 | 0 |
| CERKL | 0 |
| CFC1 | 0 |
| CFC1B | 0 |
| CFL2 | 0 |
| CHAT | 0 |
| CHMP2B | 0 |
| CHMP4B | 0 |
| CHRNA1 | 0 |
| CHRNB1 | 0 |
| CHRND | 0 |
| CHRNE | 0 |
| CHRNG | 0 |
| CHST3 | 0 |
| CISD2 | 0 |
| CLCNKA | 0 |
| CLCNKB | 0 |
| CLDN14 | 0 |
| CLIP2 | 0 |
| CLRN1 | 0 |
| CNGA1 | 0 |
| CNGA3 | 0 |
| CNGB1 | 0 |
| CNGB3 | 0 |
| COCH | 0 |
| COL11A1 | 0 |
| COL11A2 | 0 |
| COL17A1 | 0 |
| COL1A1 | 0 |
| COL1A2 | 0 |
| COL2A1 | 0 |
| COL3A1 | 0 |
| COL5A1 | 0 |
| COL5A2 | 0 |
| COL7A1 | 0 |
| COL9A1 | 0 |
| COL9A2 | 0 |
| COL9A3 | 0 |
| COLQ | 0 |
| COMP | 0 |
| COX10 | 0 |
| COX15 | 0 |
| CRB1 | 0 |
| CREB3L1 | 0 |
| CREB3L2 | 0 |
| CRTAP | 0 |
| CRX | 0 |
| CRYAA | 0 |
| CRYAB | 0 |
| CRYBA1 | 0 |
| CRYBA4 | 0 |
| CRYBB1 | 0 |
| CRYBB2 | 0 |
| CRYBB3 | 0 |
| CRYGC | 0 |
| CRYGD | 0 |
| CRYM | 0 |
| CSRP3 | 0 |
| CST3 | 0 |
| CYP4F22 | 0 |
| Caffey disease | 0 |
| Cap myopathy | 0 |
| Cardiac conduction defect, familial | 0 |
| Cardiodysrythmic potassium-sensitive periodic paralysis | 0 |
| Cardiomyopathy, dilated, with conduction defect | 0 |
| Cardiomyopathy, familial dilated | 0 |
| Cardiomyopathy, familial, hypertrophic | 0 |
| Cardiomyopathy, hypertrophic, primary or idiopathic | 0 |
| Cataract with Y-shaped suture opacities | 0 |
| Cataract, Coppock-like | 0 |
| Cataract, cerulean | 0 |
| Cataract, congenital, partial | 0 |
| Cataract, nuclear | 0 |
| Cataract, posterior polar | 0 |
| Cataract, pulverulent | 0 |
| Cataract, zonular | 0 |
| Cataract-glaucoma | 0 |
| Catecholinergic polymorphic ventricular tachycardia | 0 |
| Central core disease | 0 |
| Centronuclear myopathy | 0 |
| Cerebral hemorrhage with amyloidosis, hereditary | 0 |
| Charcot-Marie-Tooth disease, type 1 | 0 |
| Charcot-Marie-Tooth disease, type 1A | 0 |
| Charcot-Marie-Tooth disease, type 1B | 0 |
| Charcot-Marie-Tooth disease, type 1C | 0 |
| Charcot-Marie-Tooth disease, type 1D | 0 |
| Charcot-Marie-Tooth disease, type 1E | 0 |
| Charcot-Marie-Tooth disease, type 1F | 0 |
| Charcot-Marie-Tooth disease, type 2B1 | 0 |
| Charcot-Marie-Tooth disease, type 2H | 0 |
| Charcot-Marie-Tooth disease, type 4A | 0 |
| Charcot-Marie-Tooth disease, type 4E | 0 |
| Charcot-Marie-Tooth disease, type 4F | 0 |
| Charcot-Marie-Tooth disease, type 4J | 0 |
| Choroidal dystrophy, central areolar | 0 |
| Chronic inflammatory demyelinating polyneuropathy | 0 |
| Chronic myeloid leukemia | 0 |
| Classic Ehlers-Danlos syndrome | 0 |
| Clouston syndrome | 0 |
| Coenzyme Q cytochrome c reductase deficiency | 0 |
| Colon cancer, familial nonpolyposis | 0 |
| Cone rod dystrophy | 0 |
| Congenital fiber-type disproportion myopathy | 0 |
| Congenital fibrinogen deficiency | 0 |
| Congenital multicore myopathy with external ophthalmoplegia | 0 |
| Congenital muscular dystrophy, type 1C | 0 |
| Congenital muscular dystrophy, type 1D | 0 |
| Congenital myasthenic syndromes | 0 |
| Conotruncal heart malformations | 0 |
| Cutis laxa | 0 |
| Cutis laxa, X-linked | 0 |
| Cutis laxa, dominant type | 0 |
| Cutis laxa, recessive type 1 | 0 |
| Cutis laxa, recessive type 2 | 0 |
| Czech dysplasia, metatarsal type | 0 |
| DBT | 0 |
| DDR2 | 0 |
| DES | 0 |
| DFNA5 | 0 |
| DFNB31 | 0 |
| DFNB59 | 0 |
| DIAPH1 | 0 |
| DLAT | 0 |
| DLD | 0 |
| DMD | 0 |
| DNAH11 | 0 |
| DNAH5 | 0 |
| DNAI1 | 0 |
| DNAI2 | 0 |
| DNAJC30 | 0 |
| DNM2 | 0 |
| DOK7 | 0 |
| DSC2 | 0 |
| DSG1 | 0 |
| DSG2 | 0 |
| DSP | 0 |
| DTNA | 0 |
| Deafness, autosomal dominant, nonsyndromic, sensorineural, type DFNA | 0 |
| Deafness, autosomal recessive, nonsyndromic, sensorineural, type DFNB | 0 |
| Deafness-infertility syndrome | 0 |
| Dejerine-Sottas syndrome | 0 |
| Dermatofibrosarcoma protuberans | 0 |
| Dermatopathia pigmentosa reticularis | 0 |
| Dermopathy restrictive, lethal | 0 |
| Desmin-related myopathy with Mallory body-like inclusions | 0 |
| Desminopathy | 0 |
| Developmental delay - deafness, Hildebrand type | 0 |
| Diastrophic dwarfism | 0 |
| Digitotalar dysmorphism | 0 |
| Distal hereditary motor neuropathy | 0 |
| Distal hereditary motor neuropathy, type 1 | 0 |
| Distal hereditary motor neuropathy, type 2 | 0 |
| Distal hereditary motor neuropathy, type 3 and type 4 | 0 |
| Distal hereditary motor neuropathy, type 5 | 0 |
| Distal monosomy 1p36 | 0 |
| Dorfman-Chanarin disease | 0 |
| Double outlet right ventricle | 0 |
| Dowling-Degos disease | 0 |
| Dravet syndrome | 0 |
| Duchenne and Becker muscular dystrophy | 0 |
| Dysplasia, mandibuloacral | 0 |
| Dysplasia, mandibuloacral with type A lipodystrophia | 0 |
| Dysplasia, mandibuloacral with type B lipodystrophy | 0 |
| EFEMP2 | 0 |
| EFHC1 | 0 |
| EGR2 | 0 |
| EIF4H | 0 |
| ELN | 0 |
| ELOVL4 | 0 |
| EMD | 0 |
| EPHA2 | 0 |
| ESPN | 0 |
| ESRRB | 0 |
| ETV6 | 0 |
| EYA4 | 0 |
| Ectopia lentis isolated | 0 |
| Ehlers-Danlos syndrome, type 1 | 0 |
| Ehlers-Danlos syndrome, type 2 | 0 |
| Ehlers-Danlos syndrome, type 3 | 0 |
| Ehlers-Danlos syndrome, type 4 | 0 |
| Ehlers-Danlos syndrome, type 7 | 0 |
| Emery-Dreifuss muscular dystrophy | 0 |
| Epidermolysis bullosa simplex - limb girdle muscular dystrophy | 0 |
| Epidermolysis bullosa simplex - pyloric atresia | 0 |
| Epidermolysis bullosa simplex superficialis | 0 |
| Epidermolysis bullosa simplex with migratory circinate erythema | 0 |
| Epidermolysis bullosa simplex with mottled pigmentation | 0 |
| Epidermolysis bullosa simplex, Dowling-Meara type | 0 |
| Epidermolysis bullosa simplex, Koebner type | 0 |
| Epidermolysis bullosa simplex, Ogna type | 0 |
| Epidermolysis bullosa simplex, Weber-Cockayne type | 0 |
| Epidermolysis bullosa simplex, autosomal recessive | 0 |
| Epidermolysis bullosa, acantholytic, lethal | 0 |
| Epidermolysis bullosa, dystrophic | 0 |
| Epidermolysis bullosa, dystrophic, autosomal dominant | 0 |
| Epidermolysis bullosa, dystrophic, autosomal recessive, Hallopeau-Siemens type | 0 |
| Epidermolysis bullosa, dystrophic, autosomal recessive, non-Hallopeau-Siemens type | 0 |
| Epidermolysis bullosa, dystrophic, centripetal | 0 |
| Epidermolysis bullosa, dystrophic, inversa | 0 |
| Epidermolysis bullosa, dystrophic, nails only | 0 |
| Epidermolysis bullosa, dystrophic, pretibial | 0 |
| Epidermolysis bullosa, dystrophic, pruriginous | 0 |
| Epidermolysis bullosa, epidermolytic | 0 |
| Epidermolysis bullosa, generalized atrophic benign | 0 |
| Epidermolysis bullosa, junctional | 0 |
| Epidermolysis bullosa, junctional - pyloric atresia | 0 |
| Epidermolysis bullosa, junctional, Herlitz type | 0 |
| Epidermolysis bullosa, junctional, non-Herlitz type | 0 |
| Epilepsy, childhood absence | 0 |
| Epilepsy, female restricted, with intellectual deficit | 0 |
| Epiphyseal dysplasia multiple | 0 |
| Epstein syndrome | 0 |
| Erythroderma, congenital ichthyosiform, bullous | 0 |
| Erythroderma, congenital ichthyosiform, nonbullous | 0 |
| Erythrokeratodermia variabilis, Mendes da Costa type | 0 |
| Escobar syndrome | 0 |
| FBLN1 | 0 |
| FBLN5 | 0 |
| FBN1 | 0 |
| FGA | 0 |
| FGB | 0 |
| FGF14 | 0 |
| FGF9 | 0 |
| FGG | 0 |
| FHL1 | 0 |
| FHL2 | 0 |
| FIG4 | 0 |
| FKBP6 | 0 |
| FKRP | 0 |
| FKTN | 0 |
| FLNB | 0 |
| FLT3 | 0 |
| FOXE3 | 0 |
| FSCN2 | 0 |
| FUS | 0 |
| Familial afibrinogenemia | 0 |
| Familial amyloid polyneuropathy | 0 |
| Familial amyloidosis, Finnish type | 0 |
| Familial aortic dissection | 0 |
| Familial dysfibrinogenemia | 0 |
| Familial hypofibrinogenemia | 0 |
| Familial platelet syndrome with predisposition to acute myelogenous leukemia | 0 |
| Familial spastic paraplegia | 0 |
| Fatal infantile cytochrome C oxidase deficiency | 0 |
| Fechtner syndrome | 0 |
| Fetal akinesia sequence | 0 |
| Fibular aplasia - complex brachydactyly | 0 |
| Foveomacular vitelliform dystrophy, adult-onset | 0 |
| Freeman-Sheldon syndrome | 0 |
| Fronto-temporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) | 0 |
| Frontotemporal dementia | 0 |
| Frontotemporal dementia with motor neuron-disease type inclusions | 0 |
| Furlong syndrome | 0 |
| GABRA1 | 0 |
| GABRA3 | 0 |
| GABRD | 0 |
| GABRG2 | 0 |
| GARS | 0 |
| GATA4 | 0 |
| GDAP1 | 0 |
| GDF1 | 0 |
| GDF5 | 0 |
| GFAP | 0 |
| GIGYF2 | 0 |
| GJA1 | 0 |
| GJA3 | 0 |
| GJA5 | 0 |
| GJA8 | 0 |
| GJB2 | 0 |
| GJB3 | 0 |
| GJB4 | 0 |
| GJB6 | 0 |
| GLIS2 | 0 |
| GNAT1 | 0 |
| GNAT2 | 0 |
| GORAB | 0 |
| GPR98 | 0 |
| GRACILE syndrome | 0 |
| GRHL2 | 0 |
| GRM6 | 0 |
| GRN | 0 |
| GSN | 0 |
| GTF2I | 0 |
| GTF2IRD1 | 0 |
| GTPBP3 | 0 |
| GUCA1A | 0 |
| GUCA1B | 0 |
| GUCY2D | 0 |
| Generalized epilepsy with febrile seizures-plus context | 0 |
| Genetic recurrent myoglobinuria | 0 |
| Geroderma osteodysplastica | 0 |
| Gitelman syndrome | 0 |
| Goldmann-Favre syndrome | 0 |
| Greither's disease | 0 |
| Guillain-Barre syndrome | 0 |
| Gusher syndrome | 0 |
| HCN4 | 0 |
| HGF | 0 |
| HMCN1 | 0 |
| HOXD13 | 0 |
| HSF4 | 0 |
| HSPB1 | 0 |
| HSPB8 | 0 |
| HTRA1 | 0 |
| HTRA2 | 0 |
| Heart-hand syndrome, Slovenian type | 0 |
| Hemiplegic migraine, familial or sporadic | 0 |
| Hereditary motor and sensory neuropathy, type 6 | 0 |
| Hereditary myopathy with early respiratory failure | 0 |
| Hereditary neuropathy with liability to pressure palsies | 0 |
| Hereditary nonsyndromic deafness with susceptibility to aminoglycoside exposure | 0 |
| Heterotaxia | 0 |
| Histiocytoid cardiomyopathy | 0 |
| Histiocytosis, sea-blue | 0 |
| Humerospinal dysostosis | 0 |
| Hyaline body myopathy | 0 |
| Hyperkalemic periodic paralysis | 0 |
| Hyperlipidemia type 3 | 0 |
| Hypogonadism - retinitis pigmentosa | 0 |
| Hypokalemic periodic paralysis | 0 |
| Hypoplastic left heart syndrome | 0 |
| Hypospadias, familial | 0 |
| IDH3B | 0 |
| IFRD1 | 0 |
| IGHG1 | 0 |
| IHH | 0 |
| IMPDH1 | 0 |
| INPP5E | 0 |
| INVS | 0 |
| IQCB1 | 0 |
| IRF4 | 0 |
| ITGA6 | 0 |
| ITGB4 | 0 |
| Ichthyosis congenita, harlequin type | 0 |
| Ichthyosis hystrix | 0 |
| Ichthyosis hystrix, Curth-Macklin type | 0 |
| Ichthyosis, lamellar | 0 |
| Immotile cilia syndrome, Kartagener type | 0 |
| Infantile Bartter syndrome with deafness | 0 |
| Intellectual deficit - epilepsy, X-linked | 0 |
| Interauricular communication | 0 |
| Intermediate nemaline myopathy | 0 |
| JAG1 | 0 |
| JRK | 0 |
| JUP | 0 |
| Jervell and Lange-Nielsen syndrome | 0 |
| Joubert syndrome | 0 |
| Juvenile myoclonic epilepsy | 0 |
| KCNA5 | 0 |
| KCNE1 | 0 |
| KCNE2 | 0 |
| KCNE3 | 0 |
| KCNH2 | 0 |
| KCNJ1 | 0 |
| KCNJ10 | 0 |
| KCNJ2 | 0 |
| KCNQ1 | 0 |
| KCNQ2 | 0 |
| KCNQ3 | 0 |
| KCNQ4 | 0 |
| KCNV2 | 0 |
| KID syndrome | 0 |
| KIF1B | 0 |
| KLHL7 | 0 |
| KRT1 | 0 |
| KRT10 | 0 |
| KRT14 | 0 |
| KRT16 | 0 |
| KRT17 | 0 |
| KRT5 | 0 |
| KRT6A | 0 |
| KRT6B | 0 |
| Kearns-Sayre syndrome | 0 |
| Keratoderma hereditarium mutilans | 0 |
| Keratoderma palmoplantar - deafness | 0 |
| Keratosis palmoplantaris striata | 0 |
| King-Denborough syndrome | 0 |
| Kniest dysplasia | 0 |
| Knuckle pods - leuconychia - sensorineural deafness | 0 |
| Kousseff syndrome | 0 |
| LAMA3 | 0 |
| LAMB2 | 0 |
| LAMB3 | 0 |
| LAMC2 | 0 |
| LARGE | 0 |
| LAT2 | 0 |
| LCA5 | 0 |
| LDB3 | 0 |
| LEFTY2 | 0 |
| LEPRE1 | 0 |
| LHFPL5 | 0 |
| LIM2 | 0 |
| LIMK1 | 0 |
| LITAF | 0 |
| LMNA | 0 |
| LOGIC syndrome | 0 |
| LOX | 0 |
| LPIN1 | 0 |
| LRAT | 0 |
| LRPPRC | 0 |
| LRRK2 | 0 |
| LRTOMT | 0 |
| LYZ | 0 |
| Laing distal myopathy | 0 |
| Laminopathy, type Decaudain-Vigouroux | 0 |
| Larsen syndrome | 0 |
| Laurence-Moon syndrome | 0 |
| Leber amaurosis, congenital | 0 |
| Leber hereditary optic neuropathy | 0 |
| Left ventricular noncompaction | 0 |
| Legg-Calve-Perthes disease | 0 |
| Leigh syndrome | 0 |
| Leucinosis | 0 |
| Leukemia, myeloid, acute | 0 |
| Leukemia, myeloid, acute, with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | 0 |
| Lipoamide dehydrogenase deficiency | 0 |
| Lipodystrophy, familial partial, Dunnigan type | 0 |
| Long QT syndrome, familial | 0 |
| MAF | 0 |
| MAMLD1 | 0 |
| MAPK1 | 0 |
| MAPT | 0 |
| MARVELD2 | 0 |
| MASS syndrome | 0 |
| MATN3 | 0 |
| MED13L | 0 |
| MELAS syndrome | 0 |
| MERTK | 0 |
| MFN2 | 0 |
| MFRP | 0 |
| MIP | 0 |
| MKKS | 0 |
| MKS1 | 0 |
| MLH1 | 0 |
| MLH3 | 0 |
| MLXIPL | 0 |
| MMP13 | 0 |
| MMP9 | 0 |
| MORM syndrome | 0 |
| MPZ | 0 |
| MSH2 | 0 |
| MSH6 | 0 |
| MT-ATP6 | 0 |
| MT-ATP8 | 0 |
| MT-CO1 | 0 |
| MT-CO3 | 0 |
| MT-CYB | 0 |
| MT-ND1 | 0 |
| MT-ND2 | 0 |
| MT-ND3 | 0 |
| MT-ND4 | 0 |
| MT-ND4L | 0 |
| MT-ND5 | 0 |
| MT-ND6 | 0 |
| MTM1 | 0 |
| MTMR14 | 0 |
| MUSK | 0 |
| MYBPC3 | 0 |
| MYF6 | 0 |
| MYH11 | 0 |
| MYH14 | 0 |
| MYH3 | 0 |
| MYH6 | 0 |
| MYH7 | 0 |
| MYH9 | 0 |
| MYL2 | 0 |
| MYL3 | 0 |
| MYLK2 | 0 |
| MYO15A | 0 |
| MYO1A | 0 |
| MYO3A | 0 |
| MYO6 | 0 |
| MYO7A | 0 |
| Macular degeneration, age-related | 0 |
| Malignant hyperthermia | 0 |
| Marfan syndrome | 0 |
| Marshall syndrome | 0 |
| May-Hegglin thrombocytopenia | 0 |
| McKusick-Kaufman, syndrome | 0 |
| Meckel syndrome | 0 |
| Medullary cystic kidney disease, autosomal recessive | 0 |
| Medullary cystic kidney disease, autosomal recessive, juvenile | 0 |
| Meniere disease | 0 |
| Menkes disease | 0 |
| Metageria | 0 |
| Metaphyseal anadysplasia | 0 |
| Microphthalmia - cataract | 0 |
| Mild nemaline myopathy | 0 |
| Mitochondrial myopathy - lactic acidosis | 0 |
| Monosomy 22q11 | 0 |
| Moyamoya disease | 0 |
| Muir-Torre syndrome | 0 |
| Multiminicore myopathy | 0 |
| Multiple epiphyseal dysplasia due to collagen 9 anomaly | 0 |
| Multiple epiphyseal dysplasia, Beighton type | 0 |
| Multiple epiphyseal dysplasia, type 1 | 0 |
| Multiple epiphyseal dysplasia, type 4 | 0 |
| Multiple epiphyseal dysplasia, type 5 | 0 |
| Multiple pterygium syndrome, lethal form | 0 |
| Multiple synostoses | 0 |
| Muscle eye brain disease | 0 |
| Muscular dystrophy, Becker type | 0 |
| Muscular dystrophy, Duchenne type | 0 |
| Muscular dystrophy, Fukuyama type | 0 |
| Muscular dystrophy, limb-girdle, autosomal recessive, type 2F | 0 |
| Myeloma, multiple | 0 |
| Myotonia congenita acetazolamide responsive | 0 |
| Myotonia fluctuans | 0 |
| Myotonia permanens | 0 |
| Myxofibrosarcoma | 0 |
| Myxoid liposarcoma | 0 |
| NADH-CoQ reductase deficiency | 0 |
| NARP/MILS syndrome | 0 |
| NDUFA1 | 0 |
| NDUFA11 | 0 |
| NDUFAF2 | 0 |
| NDUFAF3 | 0 |
| NDUFAF4 | 0 |
| NDUFS1 | 0 |
| NDUFS2 | 0 |
| NDUFS3 | 0 |
| NDUFS4 | 0 |
| NDUFS6 | 0 |
| NDUFS7 | 0 |
| NDUFS8 | 0 |
| NDUFV1 | 0 |
| NDUFV2 | 0 |
| NEB | 0 |
| NEFH | 0 |
| NEFL | 0 |
| NEK8 | 0 |
| NHS | 0 |
| NKX2-5 | 0 |
| NOG | 0 |
| NOTCH2 | 0 |
| NPHP1 | 0 |
| NPHP3 | 0 |
| NPHP4 | 0 |
| NPPA | 0 |
| NR1H3 | 0 |
| NR2E3 | 0 |
| NR4A2 | 0 |
| NRL | 0 |
| NUP155 | 0 |
| NUP62 | 0 |
| NYX | 0 |
| Naegeli-Franceschetti-Jadassohn syndrome | 0 |
| Nance-Horan syndrome | 0 |
| Nanophthalmia | 0 |
| Naxos disease | 0 |
| Nemaline myopathy | 0 |
| Neuropathy with hearing impairment | 0 |
| Neutral lipid storage disease | 0 |
| Neutral lipid storage myopathy | 0 |
| Night blindness, stationary, congenital | 0 |
| Non-syndromic congenital cataract | 0 |
| Nonsyndromic genetic deafness | 0 |
| OFD1 | 0 |
| OLR1 | 0 |
| OTOA | 0 |
| OTOF | 0 |
| OTX2 | 0 |
| Occipital horn syndrome | 0 |
| Ocular anterior segment mesenchymal dysgenesis, familial | 0 |
| Oculodentodigital dysplasia | 0 |
| Oral-facial-digital syndrome, type 1 | 0 |
| Osteogenesis imperfecta | 0 |
| Otospondylomegaepiphyseal dysplasia | 0 |
| PACRG | 0 |
| PAPSS2 | 0 |
| PARK2 | 0 |
| PARK7 | 0 |
| PC | 0 |
| PCDH15 | 0 |
| PCDH19 | 0 |
| PDE6A | 0 |
| PDE6B | 0 |
| PDE6C | 0 |
| PDE6H | 0 |
| PDGFB | 0 |
| PDGFRL | 0 |
| PDHA1 | 0 |
| PDHB | 0 |
| PDHX | 0 |
| PIK3CA | 0 |
| PINK1 | 0 |
| PITX3 | 0 |
| PKP2 | 0 |
| PLEC1 | 0 |
| PLEKHG5 | 0 |
| PLN | 0 |
| PMP22 | 0 |
| PMS1 | 0 |
| PMS2 | 0 |
| PNPLA2 | 0 |
| POMGNT1 | 0 |
| POMT1 | 0 |
| POMT2 | 0 |
| POU3F4 | 0 |
| POU4F3 | 0 |
| PPP2R2B | 0 |
| PRCD | 0 |
| PRKAG2 | 0 |
| PRKCG | 0 |
| PROM1 | 0 |
| PRPF3 | 0 |
| PRPF31 | 0 |
| PRPF8 | 0 |
| PRPH | 0 |
| PRPH2 | 0 |
| PRX | 0 |
| PSEN1 | 0 |
| PSEN2 | 0 |
| PYCR1 | 0 |
| Pachyonychia congenita | 0 |
| Paramyotonia congenita of Von Eulenburg | 0 |
| Parkinson disease, genetic type | 0 |
| Parkinson's disease dementia, familial | 0 |
| Pendred syndrome | 0 |
| Pick disease of brain | 0 |
| Pierson syndrome | 0 |
| Platyspondylic dysplasia, Torrance type | 0 |
| Postsynaptic congenital myasthenic syndromes | 0 |
| Potassium aggravated myotonia | 0 |
| Presynaptic congenital myasthenic syndromes | 0 |
| Primary ciliary dyskinesia | 0 |
| Primary lateral sclerosis | 0 |
| Progeria | 0 |
| Progeroid syndrome, De Barsy type | 0 |
| Progressive cone dystrophy | 0 |
| Pseudoachondroplasia | 0 |
| Pyruvate carboxylase deficiency | 0 |
| Pyruvate dehydrogenase deficiency | 0 |
| RAB7A | 0 |
| RAPSN | 0 |
| RAX | 0 |
| RAX2 | 0 |
| RD3 | 0 |
| RDH12 | 0 |
| RDH5 | 0 |
| RDX | 0 |
| RFC2 | 0 |
| RGR | 0 |
| RHO | 0 |
| RIMS1 | 0 |
| RLBP1 | 0 |
| ROM1 | 0 |
| ROR2 | 0 |
| RP1 | 0 |
| RP2 | 0 |
| RP9 | 0 |
| RPE65 | 0 |
| RPGR | 0 |
| RPGRIP1 | 0 |
| RPGRIP1L | 0 |
| RSPH4A | 0 |
| RSPH9 | 0 |
| RUNX1 | 0 |
| RYR1 | 0 |
| RYR2 | 0 |
| Reducing body myopathy | 0 |
| Restrictive cardiomyopathy, idiopathic or familial | 0 |
| Retinal degeneration, late-onset | 0 |
| Retinal dystrophy, genetic | 0 |
| Retinitis pigmentosa | 0 |
| Retinitis punctata albescens | 0 |
| Rigid spine syndrome | 0 |
| Rippling muscle disease | 0 |
| Robinow syndrome | 0 |
| Romano-Ward long QT syndrome | 0 |
| Roussy-Levy syndrome | 0 |
| SCN1A | 0 |
| SCN1B | 0 |
| SCN2A | 0 |
| SCN4A | 0 |
| SCN4B | 0 |
| SCN5A | 0 |
| SCO1 | 0 |
| SCO2 | 0 |
| SDHA | 0 |
| SDHAF1 | 0 |
| SEMA4A | 0 |
| SEPN1 | 0 |
| SETX | 0 |
| SGCD | 0 |
| SIX6 | 0 |
| SLC12A1 | 0 |
| SLC12A3 | 0 |
| SLC17A8 | 0 |
| SLC26A2 | 0 |
| SLC26A4 | 0 |
| SLC26A5 | 0 |
| SNCA | 0 |
| SOD1 | 0 |
| SPATA7 | 0 |
| SPTBN2 | 0 |
| STRC | 0 |
| SURF1 | 0 |
| SYNE1 | 0 |
| SYNE2 | 0 |
| Saguenay-Lac-St | 0 |
| Scapuloperoneal amyotrophy | 0 |
| SeSAME syndrome | 0 |
| Sebastian syndrome | 0 |
| Senior-Loken syndrome | 0 |
| Severe congenital nemaline myopathy | 0 |
| Severe dilated cardiomyopathy due to lamin A/C mutation | 0 |
| Sheldon-Hall syndrome | 0 |
| Short QT syndrome, familial | 0 |
| Shprintzen-Goldberg syndrome | 0 |
| Sick sinus syndrome | 0 |
| Situs ambiguus | 0 |
| Spinocerebellar ataxia with axonal neuropathy, type 2 | 0 |
| Spondyloepimetaphyseal dysplasia | 0 |
| Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification | 0 |
| Spondyloepimetaphyseal dysplasia congenita, Strudwick type | 0 |
| Spondyloepimetaphyseal dysplasia, Missouri type | 0 |
| Spondyloepimetaphyseal dysplasia, aggrecan type | 0 |
| Spondyloepimetaphyseal dysplasia, matrilin-3 type | 0 |
| Spondyloepiphyseal dysplasia | 0 |
| Spondyloepiphyseal dysplasia due to COL2A1 mutation, mild, with early-onset osteoarthritis | 0 |
| Spondyloepiphyseal dysplasia tarda | 0 |
| Spondyloepiphyseal dysplasia, Kimberley type | 0 |
| Spondyloepiphyseal dysplasia, Omani type | 0 |
| Spondyloepiphyseal dysplasia, Pakistani type | 0 |
| Spondyloepiphyseal dysplasia, congenital type | 0 |
| Spondylometaphyseal dysplasia | 0 |
| Spondylometaphyseal dysplasia, 'corner fracture' type | 0 |
| Spondyloperipheral dysplasia - short ulna | 0 |
| Stapes ankylosis with broad thumbs and toes | 0 |
| Stargardt disease | 0 |
| Steatocystoma multiplex | 0 |
| Stickler syndrome | 0 |
| Stickler syndrome, type 1 | 0 |
| Stickler syndrome, type 3 | 0 |
| Striatonigral degeneration, infantile | 0 |
| Succinate CoQ reductase deficiency | 0 |
| Supranuclear palsy, progressive | 0 |
| Supravalvar aortic stenosis | 0 |
| Symphalangism, proximal | 0 |
| Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers | 0 |
| Synaptic congenital myasthenic syndromes | 0 |
| Syndactyly | 0 |
| Syndactyly, type 2 | 0 |
| Syndactyly, type 3 | 0 |
| Syndactyly, type 5 | 0 |
| Syndromic microphthalmia due to OTX2 mutation | 0 |
| Synspondylism | 0 |
| TACO1 | 0 |
| TARDBP | 0 |
| TAZ | 0 |
| TBL2 | 0 |
| TBP | 0 |
| TBX1 | 0 |
| TCAP | 0 |
| TDP1 | 0 |
| TECTA | 0 |
| TFB1M | 0 |
| TGFB3 | 0 |
| TGFBR1 | 0 |
| TGFBR2 | 0 |
| TGM1 | 0 |
| TMC1 | 0 |
| TMEM43 | 0 |
| TMEM67 | 0 |
| TMIE | 0 |
| TMPO | 0 |
| TMPRSS3 | 0 |
| TNNC1 | 0 |
| TNNI2 | 0 |
| TNNI3 | 0 |
| TNNT1 | 0 |
| TNNT2 | 0 |
| TNNT3 | 0 |
| TNXB | 0 |
| TOPORS | 0 |
| TPM1 | 0 |
| TPM2 | 0 |
| TPM3 | 0 |
| TRAPPC2 | 0 |
| TRIM32 | 0 |
| TRIOBP | 0 |
| TRMU | 0 |
| TRPM4 | 0 |
| TTC8 | 0 |
| TTN | 0 |
| TTR | 0 |
| TULP1 | 0 |
| TXNDC3 | 0 |
| Tangier disease | 0 |
| Tarsal-carpal coalition syndrome | 0 |
| Tetralogy of Fallot | 0 |
| Thoracic aortic aneurysm, familial form | 0 |
| Thost-Unna palmoplantar keratoderma | 0 |
| Thyrotoxic periodic paralysis | 0 |
| Tibial muscular dystrophy | 0 |
| Timothy syndrome | 0 |
| Transient bullous dermolysis of the newborn | 0 |
| Transposition of the great arteries | 0 |
| Transposition of the great arteries, right | 0 |
| Transthyretin-related familial amyloid cardiomyopathy | 0 |
| Typical nemaline myopathy | 0 |
| UCHL1 | 0 |
| UFD1L | 0 |
| UQCRB | 0 |
| UQCRQ | 0 |
| USH1C | 0 |
| USH1G | 0 |
| USH2A | 0 |
| Usher syndrome | 0 |
| VAPB | 0 |
| VATER association | 0 |
| VCL | 0 |
| VSX2 | 0 |
| WBSCR16 | 0 |
| WBSCR22 | 0 |
| WBSCR27 | 0 |
| WFS1 | 0 |
| WISP3 | 0 |
| WRN | 0 |
| Walker-Warburg syndrome | 0 |
| Weill-Marchesani syndrome | 0 |
| Weissenbacher- Zweymuller syndrome | 0 |
| Werner syndrome | 0 |
| Williams syndrome | 0 |
| Wolff-Parkinson-White syndrome | 0 |
| Wolfram syndrome | 0 |
| Woolly hair - palmoplantar keratoderma - dilated cardiomyopathy | 0 |
| Wrinkly skin syndrome | 0 |
| X-linked Charcot-Marie-Tooth disease, type 3 | 0 |
| X-linked centronuclear myopathy | 0 |
| X-linked myopathy with postural muscle atrophy | 0 |
| YARS | 0 |
| ZASP-related myofibrillar myopathy | 0 |
| ZFPM2 | 0 |
| ZIC3 | 0 |
| ZMPSTE24 | 0 |
| 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency | 1 |
| 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency | 1 |
| ABCD syndrome | 1 |
| ACTN4 | 1 |
| ACVRL1 | 1 |
| ALK | 1 |
| ASCL1 | 1 |
| ASPM | 1 |
| ATF1 | 1 |
| Acheiropodia | 1 |
| Acrocallosal syndrome, Schinzel type | 1 |
| Albinism ocular - late onset sensorineural deafness | 1 |
| Anaplastic large cell lymphoma | 1 |
| Aniridia | 1 |
| Astrocytoma | 1 |
| BARD1 | 1 |
| BDNF | 1 |
| BMPR1A | 1 |
| BMPR2 | 1 |
| BRAF | 1 |
| BRCA1 | 1 |
| BRCA2 | 1 |
| BRIP1 | 1 |
| Bannayan-Riley-Ruvalcaba syndrome | 1 |
| Breast cancer, familial | 1 |
| CCDC6 | 1 |
| CDK4 | 1 |
| CDK5RAP2 | 1 |
| CDKN2A | 1 |
| CENPJ | 1 |
| CHEK2 | 1 |
| CYP11A1 | 1 |
| CYP11B1 | 1 |
| CYP11B2 | 1 |
| CYP17A1 | 1 |
| CYP1B1 | 1 |
| CYP21A2 | 1 |
| Cardiofaciocutaneous syndrome | 1 |
| Carney-Stratakis syndrome | 1 |
| Colobomatous microphthalmia | 1 |
| Congenital adrenal hyperplasia | 1 |
| Conn's syndrome | 1 |
| Corpus callosum dysgenesis, X-linked recessive | 1 |
| Corticosterone methyl-oxydase deficiency, type I (CMO I) | 1 |
| Corticosterone methyl-oxydase deficiency, type II (CMO II) | 1 |
| Cowden syndrome | 1 |
| DIRC1 | 1 |
| DIRC2 | 1 |
| DMBT1 | 1 |
| Deaf blind hypopigmentation syndrome, Yemenite type | 1 |
| Denys-Drash syndrome | 1 |
| Desmoplastic small round cell tumor | 1 |
| ECE1 | 1 |
| EDN3 | 1 |
| EDNRB | 1 |
| EGFR | 1 |
| EGLN1 | 1 |
| ELAC2 | 1 |
| ENG | 1 |
| EPAS1 | 1 |
| EPHB2 | 1 |
| EPOR | 1 |
| ERC1 | 1 |
| ERG | 1 |
| ETV1 | 1 |
| EWSR1 | 1 |
| Endocrine tumor | 1 |
| Esthesioneuroblastoma | 1 |
| Ewing sarcoma | 1 |
| FANCA | 1 |
| FANCB | 1 |
| FANCC | 1 |
| FANCD2 | 1 |
| FANCE | 1 |
| FANCF | 1 |
| FANCG | 1 |
| FANCI | 1 |
| FANCL | 1 |
| FANCM | 1 |
| FHIT | 1 |
| FIP1L1 | 1 |
| FLI1 | 1 |
| FOXC1 | 1 |
| FOXH1 | 1 |
| FST | 1 |
| Fanconi anemia | 1 |
| Foveal hypoplasia - presenile cataract | 1 |
| Frasier syndrome | 1 |
| GDNF | 1 |
| GLI1 | 1 |
| GLI2 | 1 |
| GLI3 | 1 |
| GLTSCR1 | 1 |
| GLTSCR2 | 1 |
| GOLGA5 | 1 |
| GPC3 | 1 |
| GPC4 | 1 |
| Gastrointestinal stromal tumor | 1 |
| Gingival fibromatosis, dominant | 1 |
| Glaucoma, congenital | 1 |
| Glaucoma, hereditary | 1 |
| Glaucoma, juvenile | 1 |
| Glioblastoma | 1 |
| Gorlin syndrome | 1 |
| Greig syndrome | 1 |
| HDAC9 | 1 |
| HIF1A | 1 |
| HLF | 1 |
| HNF1B | 1 |
| HSD17B3 | 1 |
| HSD3B2 | 1 |
| HSPBAP1 | 1 |
| Hereditary pheochromocytoma-paraganglioma syndrome | 1 |
| Hirschsprung disease | 1 |
| Holoprosencephaly | 1 |
| Holoprosencephaly deletion 2p | 1 |
| Hydrocephalus due to stenosis of aqueduct of Sylvius | 1 |
| Hyperaldosteronism, familial, type 1 | 1 |
| Hyperaldosteronism, familial, type 2 | 1 |
| Hypereosinophilic syndromes | 1 |
| Hypoaldosteronism, familial | 1 |
| ING1 | 1 |
| ING3 | 1 |
| INSM1 | 1 |
| Idiopathic and/or familial pulmonary arterial hypertension | 1 |
| Iridogoniodysgenesis | 1 |
| Juvenile gastrointestinal polyposis | 1 |
| Juvenile polyposis of infancy | 1 |
| KIT | 1 |
| KRAS | 1 |
| Keratitis, hereditary | 1 |
| L1CAM | 1 |
| LEOPARD syndrome | 1 |
| LMBR1 | 1 |
| LMO1 | 1 |
| LRRN2 | 1 |
| LTBP2 | 1 |
| LYL1 | 1 |
| Leukemia of ambiguous lineage, acute | 1 |
| Leukemia, lymphoblastic, acute | 1 |
| Lhermitte-Duclos disease | 1 |
| Li-Fraumeni syndrome | 1 |
| MAGEL2 | 1 |
| MANF | 1 |
| MAP2K1 | 1 |
| MAP2K2 | 1 |
| MASA syndrome | 1 |
| MC1R | 1 |
| MCPH1 | 1 |
| MITF | 1 |
| MLL | 1 |
| MN1 | 1 |
| MXI1 | 1 |
| MYCN | 1 |
| MYOC | 1 |
| Mast cell leukemia | 1 |
| Mastocytosis | 1 |
| Mastocytosis, aggressive systemic | 1 |
| Mastocytosis, indolent systemic | 1 |
| Mastocytosis, systemic | 1 |
| Mastocytosis, systemic, with an associated clonal hematologic non-mast cell c lineage disease | 1 |
| Meacham syndrome | 1 |
| Melanoma of soft part | 1 |
| Melanoma, familial | 1 |
| Melanoma-pancreatic cancer, syndrome | 1 |
| Meningioma | 1 |
| Mesangial sclerosis, diffuse | 1 |
| Microcephaly, isolated congenital | 1 |
| Mixed polyposis syndrome, hereditary | 1 |
| Mullerian aplasia | 1 |
| Multiple endocrine neoplasia, type 2 | 1 |
| Myeloid neoplasm associated with PDGFRA rearrangement | 1 |
| NCOA4 | 1 |
| NDN | 1 |
| NF2 | 1 |
| NME1 | 1 |
| NPHS2 | 1 |
| NR4A3 | 1 |
| NRTN | 1 |
| Nephroblastoma | 1 |
| Nephrotic syndrome, idiopathic, steroid-resistant, familial | 1 |
| Nephrotic syndrome, idiopathic, steroid-resistant, sporadic | 1 |
| Nephrotic syndrome, idiopathic, steroid-resistant, with diffuse mesangial sclerosis, sporadic | 1 |
| Neuroblastoma | 1 |
| Neurofibromatosis type 2 | 1 |
| Neurofibromatosis, type 3 | 1 |
| Noonan syndrome | 1 |
| Noonan-like syndrome | 1 |
| OCA2 | 1 |
| OGG1 | 1 |
| OPTN | 1 |
| Ocular coloboma | 1 |
| Oculo-digito-esophageal-duodenal syndrome (ODED) | 1 |
| Oculocutaneous albinism | 1 |
| Oculocutaneous albinism type 4, OCA-4 | 1 |
| Oligodendroglioma | 1 |
| Ondine syndrome | 1 |
| Osteosarcoma | 1 |
| PALB2 | 1 |
| PAX6 | 1 |
| PBX1 | 1 |
| PCM1 | 1 |
| PDGFRA | 1 |
| PHOX2B | 1 |
| PITX2 | 1 |
| PTCH1 | 1 |
| PTEN | 1 |
| PTPN11 | 1 |
| Pallister-Hall syndrome | 1 |
| Pancreatic carcinoma, familial | 1 |
| Papilloma of choroid plexus | 1 |
| Paris-Trousseau thrombocytopenia | 1 |
| Peters anomaly | 1 |
| Pheochromocytoma and secreting paraganglioma | 1 |
| Piebaldism | 1 |
| Pitt-Hopkins syndrome | 1 |
| Polydactyly of a triphalangeal thumb (PPD2) | 1 |
| Polydactyly postaxial | 1 |
| Polydactyly postaxial, type A | 1 |
| Polydactyly postaxial, type B | 1 |
| Polydactyly, preaxial | 1 |
| Polysyndactyly (PPD4) | 1 |
| Prader-Willi syndrome | 1 |
| Premature chromosome condensation with microcephaly and intellectual deficit | 1 |
| Primary familial polycythemia | 1 |
| Prostate cancer, familial | 1 |
| Proteus syndrome | 1 |
| Proteus-like syndrome - intellectual deficit - eye defects | 1 |
| Pulmonary venoocclusive disease | 1 |
| RAD51 | 1 |
| RAF1 | 1 |
| RB1 | 1 |
| RET | 1 |
| RNASEL | 1 |
| RNF139 | 1 |
| Renal cell carcinoma, familial | 1 |
| Renal dysplasia | 1 |
| Renal dysplasia, bilateral | 1 |
| Renal dysplasia, unilateral | 1 |
| Renal-diabetes MODY5 syndrome | 1 |
| Rendu-Osler-Weber disease | 1 |
| Retinoblastoma | 1 |
| Rhabdoid tumor | 1 |
| Rieger syndrome | 1 |
| Rieger-Axenfeld anomaly | 1 |
| Ring dermoid of cornea | 1 |
| SDHAF2 | 1 |
| SDHB | 1 |
| SDHC | 1 |
| SDHD | 1 |
| SHH | 1 |
| SIX3 | 1 |
| SLC45A2 | 1 |
| SMAD4 | 1 |
| SMAD9 | 1 |
| SMARCB1 | 1 |
| SNAI2 | 1 |
| SNRPN | 1 |
| SOS1 | 1 |
| SOX10 | 1 |
| SRD5A2 | 1 |
| STIL | 1 |
| Simpson-Golabi-Behmel syndrome | 1 |
| Solitary median maxillary central incisor syndrome | 1 |
| Squamous cell carcinoma of head and neck | 1 |
| Stein-Leventhal syndrome | 1 |
| TAL1 | 1 |
| TAL2 | 1 |
| TCF3 | 1 |
| TCF4 | 1 |
| TDGF1 | 1 |
| TFG | 1 |
| TGFB2 | 1 |
| TGIF1 | 1 |
| TLX1 | 1 |
| TNFRSF10B | 1 |
| TP53 | 1 |
| TPR | 1 |
| TRIM24 | 1 |
| TRIM27 | 1 |
| TRIM33 | 1 |
| TRPC6 | 1 |
| TYR | 1 |
| TYRP1 | 1 |
| Thyroid carcinoma, medullary | 1 |
| Thyroid carcinoma, papillary or follicular | 1 |
| Tietz syndrome | 1 |
| Triphalangeal thumb-polysyndactyly syndrome | 1 |
| Triphalangeal thumbs - duplication of the big toes, familial | 1 |
| VACTERL with hydrocephalus | 1 |
| VHL | 1 |
| Von Hippel-Lindau disease | 1 |
| WAGR syndrome | 1 |
| WDR36 | 1 |
| WT1 | 1 |
| Waardenburg syndrome | 1 |
| Waardenburg syndrome type 2 | 1 |
| Waardenburg-Shah syndrome | 1 |
| Waardenburg-Shah syndrome, neurologic variant | 1 |
| YEATS4 | 1 |
| ZIC2 | 1 |
| ABCD1 | 2 |
| AMN | 2 |
| Adrenoleukodystrophy, X-linked | 2 |
| Adrenoleukodystrophy, X-linked, cerebral form | 2 |
| Adrenomyeloneuropathy | 2 |
| CUBN | 2 |
| DHFR | 2 |
| Graesbeck-Imerslund disease | 2 |
| Aicardi-Goutieres syndrome | 3 |
| Cerebroretinal vasculopathy | 3 |
| Hereditary vascular retinopathy | 3 |
| Lupus erythematosus, cutaneous | 3 |
| Lupus, chilblain | 3 |
| RNASEH2A | 3 |
| RNASEH2B | 3 |
| RNASEH2C | 3 |
| SAMHD1 | 3 |
| TREX1 | 3 |
| ATP10A | 4 |
| Angelman syndrome | 4 |
| CYFIP1 | 4 |
| UBE3A | 4 |
| Autoimmune lymphoproliferative syndrome | 5 |
| CASP10 | 5 |
| CASP8 | 5 |
| FAS | 5 |
| FASLG | 5 |
| APC | 6 |
| ASPSCR1 | 6 |
| AUTS2 | 6 |
| Alveolar soft-part sarcoma | 6 |
| Asperger syndrome | 6 |
| Autism | 6 |
| CDH1 | 6 |
| CTNNB1 | 6 |
| Desmoid disease | 6 |
| EN2 | 6 |
| Familial adenomatous polyposis | 6 |
| GABRB3 | 6 |
| Gardner syndrome | 6 |
| Gastric cancer, familial | 6 |
| Gastric linitis plastica | 6 |
| Hepatocellular carcinoma, childhood-onset | 6 |
| MET | 6 |
| MUTYH | 6 |
| Medulloblastoma | 6 |
| NLGN3 | 6 |
| NLGN4X | 6 |
| NRXN1 | 6 |
| PRCC | 6 |
| PTCH2 | 6 |
| Pilomatrixoma | 6 |
| RPL10 | 6 |
| Renal cell carcinoma, papillary, familial | 6 |
| SUFU | 6 |
| TFE3 | 6 |
| Turcot syndrome with polyposis | 6 |
| Autosomal recessive agammaglobulinemia | 7 |
| IGHM | 7 |
| IGLL1 | 7 |
| LRRC8A | 7 |
| Autosomal recessive spondylocostal dysostosis | 8 |
| DLL3 | 8 |
| HES7 | 8 |
| LFNG | 8 |
| MESP2 | 8 |
| Albers-Schonberg osteopetrosis | 9 |
| Autosomal recessive malignant osteopetrosis | 9 |
| CLCN7 | 9 |
| Expansile osteolysis, familial form | 9 |
| OSTM1 | 9 |
| Osteopetrosis - hypogammaglobulinemia | 9 |
| TCIRG1 | 9 |
| TNFRSF11A | 9 |
| TNFSF11 | 9 |
| Blue cone monochromatism | 10 |
| OPN1LW | 10 |
| OPN1MW | 10 |
| OPN1MW2 | 10 |
| Blackfan-Diamond disease | 11 |
| RPL11 | 11 |
| RPL35A | 11 |
| RPL5 | 11 |
| RPS17 | 11 |
| RPS19 | 11 |
| RPS24 | 11 |
| RPS7 | 11 |
| AGGF1 | 12 |
| Angio-osteohypertrophic syndrome | 12 |
| Capillary malformation-arteriovenous malformation | 12 |
| RASA1 | 12 |
| CYP27B1 | 13 |
| CYP2R1 | 13 |
| Calcinosis, tumoral | 13 |
| DMP1 | 13 |
| FGF23 | 13 |
| GALNT3 | 13 |
| KL | 13 |
| PHEX | 13 |
| SAMD9 | 13 |
| SLC34A3 | 13 |
| VDR | 13 |
| Vitamin D resistant rickets | 13 |
| CCM2 | 14 |
| Cerebral cavernous malformations | 14 |
| KRIT1 | 14 |
| PDCD10 | 14 |
| ASS1 | 15 |
| Citrullinemia | 15 |
| SLC25A1 | 15 |
| SLC25A13 | 15 |
| ATRX | 16 |
| Alpha thalassemia - intellectual deficit, X-linked | 16 |
| CUL4B | 16 |
| Carpenter-Waziri syndrome | 16 |
| Chudley-Lowry-Hoar syndrome | 16 |
| Holmes-Gang syndrome | 16 |
| Intellectual deficit, X-linked - hypotonic face | 16 |
| Intellectual deficit, X-linked, Cabezas type | 16 |
| Intellectual deficit, X-linked, Wei type | 16 |
| Juberg-Marsidi syndrome | 16 |
| Smith-Fineman-Myers syndrome | 16 |
| Chromosome Y deletion | 17 |
| DAZ1 | 17 |
| DAZ2 | 17 |
| DAZ3 | 17 |
| DAZ4 | 17 |
| DDX3Y | 17 |
| RBMY1A1 | 17 |
| USP9Y | 17 |
| COQ2 | 18 |
| COQ9 | 18 |
| Coenzyme Q 10 (CoQ10), deficiency | 18 |
| PDSS2 | 18 |
| CHST6 | 19 |
| COL8A2 | 19 |
| Camurati-Engelmann disease | 19 |
| Corneal dystrophy | 19 |
| Corneal dystrophy - perceptive deafness | 19 |
| Corneal dystrophy, Avellino type | 19 |
| Corneal dystrophy, Groenouw type | 19 |
| Corneal dystrophy, Reis-Buckler type | 19 |
| Corneal dystrophy, endothelial fuchs type | 19 |
| Corneal dystrophy, gelatinous drop-like | 19 |
| Corneal dystrophy, juvenile epithelial, of Meesmann | 19 |
| Corneal dystrophy, lattice, type I | 19 |
| Corneal dystrophy, lattice, type IIIa | 19 |
| Corneal flecked dystrophy, Francois-Neetens type | 19 |
| DCN | 19 |
| Endothelial dystrophy, congenital, hereditary | 19 |
| KRT12 | 19 |
| KRT3 | 19 |
| Keratoconus, isolated | 19 |
| PIKFYVE | 19 |
| SLC4A11 | 19 |
| TACSTD2 | 19 |
| TGFB1 | 19 |
| TGFBI | 19 |
| VSX1 | 19 |
| ZEB1 | 19 |
| Cornelia de Lange syndrome | 20 |
| NIPBL | 20 |
| SMC1A | 20 |
| SMC3 | 20 |
| CLCF1 | 21 |
| CRLF1 | 21 |
| Cold-induced sweating syndrome | 21 |
| Crisponi syndrome | 21 |
| Crigler-Najjar syndrome | 22 |
| Gilbert syndrome | 22 |
| Hyperbilirubinemia transient familial neonatal | 22 |
| UGT1A1 | 22 |
| UGT1A10 | 22 |
| UGT1A3 | 22 |
| UGT1A4 | 22 |
| UGT1A5 | 22 |
| UGT1A6 | 22 |
| UGT1A7 | 22 |
| UGT1A8 | 22 |
| UGT1A9 | 22 |
| Achondroplasia | 23 |
| Antley-Bixler syndrome | 23 |
| Antley-Bixler-like syndrome - ambiguous genitalia - disordered steroidogenesis | 23 |
| Apert syndrome | 23 |
| CHARGE syndrome | 23 |
| CHD7 | 23 |
| Camptodactyly - tall stature - scoliosis - hearing loss | 23 |
| Craniosynostosis | 23 |
| Crouzon disease | 23 |
| Crouzon syndrome - acanthosis nigricans | 23 |
| Cutis gyrata - acanthosis nigricans - craniosynostosis | 23 |
| Eunuchoidism familial | 23 |
| FGF8 | 23 |
| FGFR1 | 23 |
| FGFR2 | 23 |
| FGFR3 | 23 |
| Familial scaphocephaly syndrome, McGillivray type | 23 |
| GNRH1 | 23 |
| GNRHR | 23 |
| Hypochondroplasia | 23 |
| Isolated brachycephaly | 23 |
| Isolated cloverleaf skull syndrome | 23 |
| Isolated craniosynostosis | 23 |
| Isolated plagiocephaly | 23 |
| Isolated scaphocephaly | 23 |
| Isolated trigonocephaly | 23 |
| Jackson-Weiss syndrome | 23 |
| KAL1 | 23 |
| KISS1R | 23 |
| Kallmann syndrome | 23 |
| Kallmann syndrome - heart disease | 23 |
| Lacrimo-auriculo-dento-digital syndrome | 23 |
| Muenke syndrome | 23 |
| Myeloid neoplasm associated with FGFR1 rearrangement | 23 |
| NELF | 23 |
| Normosmic congenital hypogonadotropic hypogonadism | 23 |
| Osteoglophonic dwarfism | 23 |
| POR | 23 |
| PROK2 | 23 |
| PROKR2 | 23 |
| Pfeiffer syndrome | 23 |
| Pfeiffer syndrome, type 1 | 23 |
| Pfeiffer syndrome, type 2 | 23 |
| SEMA3E | 23 |
| Saethre-Chotzen syndrome | 23 |
| Severe achondroplasia - developmental delay - acanthosis nigricans | 23 |
| TAC3 | 23 |
| TACR3 | 23 |
| TWIST1 | 23 |
| Thanatophoric dwarfism | 23 |
| Thanatophoric dwarfism, type I | 23 |
| Thanatophoric dwarfism, type II | 23 |
| Crohn disease | 24 |
| Granulomatous arthritis of childhood | 24 |
| IL10 | 24 |
| IL23R | 24 |
| MUC3A | 24 |
| NOD2 | 24 |
| SLC22A4 | 24 |
| Ulcerative colitis | 24 |
| DSPP | 25 |
| Dentin dysplasia | 25 |
| Dentinogenesis imperfecta | 25 |
| Dentinogenesis imperfecta type 2 | 25 |
| Dentinogenesis imperfecta type 3 | 25 |
| ABCA3 | 26 |
| Acute Respiratory Distress Syndrome, adult | 26 |
| Acute respiratory distress syndrome, Infant | 26 |
| CSF2RA | 26 |
| CSF2RB | 26 |
| Chronic pneumonitis of infancy | 26 |
| DKC1 | 26 |
| Dyskeratosis congenita | 26 |
| Familial hemophagocytic lymphohistiocytosis | 26 |
| IFNG | 26 |
| Idiopathic aplastic anemia | 26 |
| NHP2 | 26 |
| NOP10 | 26 |
| PRF1 | 26 |
| Progressive pancytopenia - immunodeficiency - cerebellar hypoplasia | 26 |
| Pulmonary alveolar proteinosis | 26 |
| Pulmonary fibrosis, idiopathic | 26 |
| Pulmonary surfactant protein anomalies | 26 |
| Respiratory bronchiolitis - interstitial lung disease | 26 |
| Retinopathy - anemia- central nervous system anomalies | 26 |
| SBDS | 26 |
| SFTPA1 | 26 |
| SFTPB | 26 |
| SFTPC | 26 |
| STX11 | 26 |
| Shwachman-Diamond syndrome | 26 |
| TERT | 26 |
| TINF2 | 26 |
| UNC13D | 26 |
| ADULT syndrome | 27 |
| Ankyloblepharon - ectodermal defects - cleft lip palate | 27 |
| BMP4 | 27 |
| Bakrania-Ragge syndrome | 27 |
| Cleft lip with or without cleft palate | 27 |
| EEC syndrome | 27 |
| FBXW4 | 27 |
| IRF6 | 27 |
| Limb-mammary syndrome | 27 |
| PVRL1 | 27 |
| Pterygium popliteal syndrome, autosomal dominant | 27 |
| Rapp-Hodgkin syndrome | 27 |
| SHFM1 | 27 |
| SUMO1 | 27 |
| Split hand - split foot | 27 |
| Split hand - split foot - deafness | 27 |
| TGFA | 27 |
| TP63 | 27 |
| Van Der Woude syndrome | 27 |
| WNT10B | 27 |
| Zlotogora-Ogur syndrome | 27 |
| Early infantile epileptic encephalopathy | 28 |
| Early myoclonic encephalopathy | 28 |
| SLC25A22 | 28 |
| STXBP1 | 28 |
| ACTB | 29 |
| DRD2 | 29 |
| Early onset torsion dystonia | 29 |
| Myoclonic dystonia | 29 |
| SGCE | 29 |
| TAF1 | 29 |
| TOR1A | 29 |
| Angioedema, hereditary | 30 |
| Atypical hemolytic uremic syndrome | 30 |
| Atypical hemolytic uremic syndrome with C3 anomaly | 30 |
| Atypical hemolytic uremic syndrome with I factor anomaly | 30 |
| C2 | 30 |
| C3 | 30 |
| C4A | 30 |
| C4B | 30 |
| C5 | 30 |
| C6 | 30 |
| C7 | 30 |
| C8A | 30 |
| C8B | 30 |
| C8G | 30 |
| C9 | 30 |
| CD46 | 30 |
| CFH | 30 |
| CFI | 30 |
| CR2 | 30 |
| Complement component 2 deficiency | 30 |
| Complement regulatory proteins anomaly | 30 |
| Congenital factor XII deficiency | 30 |
| Drusen dominant | 30 |
| F12 | 30 |
| Immunodeficiency with a complement cascade protein anomaly | 30 |
| Immunodeficiency with factor H anomaly | 30 |
| Immunodeficiency with factor I anomaly | 30 |
| Membranoproliferative glomerulonephritis | 30 |
| SERPING1 | 30 |
| Autosomal recessive limb-girdle muscular dystrophy, type 2B | 31 |
| Congenital myopathy, Paradas type | 31 |
| DYSF | 31 |
| Distal myopathy with anterior tibial onset | 31 |
| Miyoshi myopathy | 31 |
| Ankylosis of teeth | 32 |
| Chondrodysplasia, Blomstrand type | 32 |
| Eiken syndrome | 32 |
| Enchondromatosis | 32 |
| Metaphyseal chondrodysplasia, Jansen type | 32 |
| PTH1R | 32 |
| Albright hereditary osteodystrophy | 33 |
| Ectopic ossification, familial type | 33 |
| Fibrous dysplasia of bone | 33 |
| GNAS | 33 |
| McCune-Albright syndrome | 33 |
| Pseudohypoparathyroidism, type 1A | 33 |
| Pseudohypoparathyroidism, type 1C | 33 |
| Pseudopseudohypoparathyroidism | 33 |
| ARSA | 34 |
| Encephalopathy due to prosaposin deficiency | 34 |
| GBA | 34 |
| Gaucher disease | 34 |
| Gaucher disease - ophthalmoplegia - cardiovascular calcification | 34 |
| Gaucher disease, type 1 | 34 |
| Gaucher disease, type 2 | 34 |
| Gaucher disease, type 3 | 34 |
| Metachromatic leukodystrophy | 34 |
| PSAP | 34 |
| Perinatal-lethal Gaucher disease | 34 |
| Pseudoarylsulfatase A deficiency | 34 |
| GALE | 35 |
| GALK1 | 35 |
| GALT | 35 |
| Galactosemia | 35 |
| CFTR | 36 |
| CTRC | 36 |
| Congenital bilateral absence of vas deferens | 36 |
| Cystic fibrosis | 36 |
| Hereditary chronic pancreatitis | 36 |
| PRSS1 | 36 |
| PRSS2 | 36 |
| REG1A | 36 |
| SPINK1 | 36 |
| Beta-thalassemia | 37 |
| HBB | 37 |
| Heinz body anemia | 37 |
| Hemoglobin C disease | 37 |
| Hemoglobin E disease | 37 |
| Sickle cell anemia | 37 |
| CYBA | 38 |
| CYBB | 38 |
| Granulomatous disease, chronic | 38 |
| NCF1 | 38 |
| NCF2 | 38 |
| NCF4 | 38 |
| GALNS | 39 |
| GLB1 | 39 |
| GM1 gangliosidosis | 39 |
| Gangliosidosis GM1, type 1 | 39 |
| Gangliosidosis GM1, type 3 | 39 |
| Mucopolysaccharidosis type 4 | 39 |
| AXIN2 | 40 |
| Autosomal dominant hypohidrotic ectodermal dysplasia | 40 |
| Christ-Siemens-Touraine syndrome | 40 |
| EDA | 40 |
| EDAR | 40 |
| EDARADD | 40 |
| Ectodermal dysplasia, hypohidrotic, autosomal recessive | 40 |
| Hypodontia | 40 |
| Hypodontia - dysplasia of nails | 40 |
| MSX1 | 40 |
| Odonto-onycho-dermal dysplasia | 40 |
| PAX9 | 40 |
| Schopf-Schulz-Passarge syndrome | 40 |
| Tessier number 5 facial cleft | 40 |
| WNT10A | 40 |
| CASR | 41 |
| GCM2 | 41 |
| Hyperparathyroidism, neonatal severe, primary | 41 |
| Hypocalcemia, autosomal dominant | 41 |
| Hypocalciuric hypercalcemia, familial | 41 |
| Hypoparathyroidism, familial, isolated | 41 |
| PTH | 41 |
| Chorea familial, benign | 42 |
| DUOX2 | 42 |
| DUOXA2 | 42 |
| Hyperthyroidism, familial, due to mutations in TSH receptor | 42 |
| Hyperthyroidism, familial, gestational | 42 |
| Hypothyroidism, congenital | 42 |
| Hypothyroidism, congenital idiopathic | 42 |
| IYD | 42 |
| NKX2-1 | 42 |
| PAX8 | 42 |
| SLC5A5 | 42 |
| TPO | 42 |
| TRH | 42 |
| TSHB | 42 |
| TSHR | 42 |
| Thyroid dyshormonogenesis, familial | 42 |
| Thyroid-stimulating hormone, beta chain deficiency | 42 |
| BLOC1S3 | 43 |
| DTNBP1 | 43 |
| HPS1 | 43 |
| HPS3 | 43 |
| HPS4 | 43 |
| HPS5 | 43 |
| HPS6 | 43 |
| Hermansky-Pudlak syndrome | 43 |
| Creutzfeldt-Jakob disease | 44 |
| Gerstmann-Straussler-Scheinker syndrome | 44 |
| Huntington disease-like 1 | 44 |
| Insomnia, familial fatal | 44 |
| PRNP | 44 |
| Encephalopathy due to sulfite oxidase deficiency | 45 |
| GLRA1 | 45 |
| GLRB | 45 |
| GPHN | 45 |
| Hyperekplexia, hereditary | 45 |
| MOCOS | 45 |
| MOCS1 | 45 |
| MOCS2 | 45 |
| SLC6A5 | 45 |
| SUOX | 45 |
| XDH | 45 |
| Xanthinuria | 45 |
| AMT | 46 |
| GCSH | 46 |
| GLDC | 46 |
| Hyperglycinemia, isolated nonketotic | 46 |
| ABCG5 | 47 |
| ABCG8 | 47 |
| APOB | 47 |
| Defective apolipoprotein B-100, familial | 47 |
| Hypercholesterolemia, familial | 47 |
| LDLR | 47 |
| LDLRAP1 | 47 |
| PCSK9 | 47 |
| Phytosterolemia | 47 |
| SREBF2 | 47 |
| Chronic myeloproliferative disease | 48 |
| Chronic myeloproliferative disease, unclassified | 48 |
| Idiopathic hypereosinophilic syndrome | 48 |
| Leukemia, myelomonocytic, chronic | 48 |
| Myelodysplastic/myeloproliferative disease | 48 |
| Myeloid neoplasm associated with PDGFRB rearrangement | 48 |
| PDGFRB | 48 |
| ZMYM2 | 48 |
| Hartnup syndrome | 49 |
| Iminoglycinuria | 49 |
| SLC36A2 | 49 |
| SLC6A18 | 49 |
| SLC6A19 | 49 |
| SLC6A20 | 49 |
| Bronchopneumopathy, chronic, due to TAP deficiency | 50 |
| CIITA | 50 |
| Immunodeficiency by defective expression of HLA class 1 | 50 |
| Immunodeficiency by defective expression of HLA class 2 | 50 |
| RFX5 | 50 |
| RFXANK | 50 |
| RFXAP | 50 |
| TAP1 | 50 |
| TAP2 | 50 |
| TAPBP | 50 |
| Common variable immunodeficiency | 51 |
| ICOS | 51 |
| Immunoglobulin A deficiency | 51 |
| TNFRSF13B | 51 |
| AQP2 | 52 |
| AVPR2 | 52 |
| Diabetes insipidus, nephrogenic | 52 |
| Inappropriate antidiuretic hormone secretion syndrome | 52 |
| ATM | 53 |
| Ataxia-telangiectasia | 53 |
| MRE11A | 53 |
| Mantle cell lymphoma | 53 |
| Alopecia universalis | 54 |
| Atrichia with papular lesions | 54 |
| HR | 54 |
| Marie Unna congenital hypotrichosis | 54 |
| BCL10 | 55 |
| BIRC3 | 55 |
| FOXP1 | 55 |
| MALT lymphoma | 55 |
| MALT1 | 55 |
| Glanzmann thrombasthenia | 56 |
| ITGA2B | 56 |
| ITGB3 | 56 |
| Macrothrombocytopenia with abnormal proplatelet formation, autosomal dominant | 56 |
| IFNGR1 | 57 |
| IFNGR2 | 57 |
| IL12B | 57 |
| IL12RB1 | 57 |
| Mendelian susceptibility to atypical mycobacteria | 57 |
| STAT1 | 57 |
| Leukemia, promyelocytic, acute | 58 |
| NPM1 | 58 |
| PML | 58 |
| RARA | 58 |
| ZBTB16 | 58 |
| ARL11 | 59 |
| CCND1 | 59 |
| FSTL3 | 59 |
| Leukemia, B-cell lymphocytic, chronic | 59 |
| CLCN5 | 60 |
| Dent syndrome | 60 |
| Lowe syndrome | 60 |
| OCRL | 60 |
| ABCB11 | 61 |
| ABCB4 | 61 |
| ATP8B1 | 61 |
| Benign recurrent intrahepatic cholestasis | 61 |
| Cholestasis, progressive familial intrahepatic 2 | 61 |
| Cholestasis, progressive familial intrahepatic 3 | 61 |
| Cholestasis, progressive familial intrahepatic, type 1 | 61 |
| Intrahepatic cholestasis of pregnancy | 61 |
| Low phospholipid associated cholelithiasis | 61 |
| Progressive familial intrahepatic cholestasis | 61 |
| Glycogen storage disease due to liver phosphorylase deficiency | 62 |
| Glycogen storage disease due to phosphorylase kinase deficiency | 62 |
| Glycogen storage disease, type 9 | 62 |
| Muscular phosphorylase kinase deficiency | 62 |
| PHKA1 | 62 |
| PHKA2 | 62 |
| PHKB | 62 |
| PHKG2 | 62 |
| PYGL | 62 |
| Deletion 17q11 | 63 |
| Excessive growth - learning disabilities - facial dysmorphism | 63 |
| Grisart-Destree syndrome | 63 |
| NF1 | 63 |
| Neurofibromatosis - Noonan syndrome | 63 |
| Neurofibromatosis type 1 | 63 |
| Neurofibromatosis, familial segmental | 63 |
| Neurofibromatosis, familial spinal | 63 |
| RNF135 | 63 |
| SUZ12 | 63 |
| Watson syndrome | 63 |
| 3-hydroxylacyl-CoA dehydrogenase deficiency | 64 |
| ABCC8 | 64 |
| CEL | 64 |
| DEND syndrome | 64 |
| Diabetes mellitus, neonatal | 64 |
| Diabetes mellitus, neonatal, permanent | 64 |
| Diabetes mellitus, neonatal, transient | 64 |
| Diabetes mellitus, permanent neonatal - pancreatic and cerebellar agenesis | 64 |
| Diffuse hyperinsulinism, diazoxide-resistant | 64 |
| Diffuse hyperinsulinism, diazoxide-sensitive | 64 |
| GCK | 64 |
| HADH | 64 |
| HNF1A | 64 |
| HNF4A | 64 |
| Hyperinsulinism due to focal adenomatous hyperplasia | 64 |
| Hyperinsulinism, exercise-induced | 64 |
| INS | 64 |
| INSR | 64 |
| Insulin-resistance syndrome, type A | 64 |
| KCNJ11 | 64 |
| KLF11 | 64 |
| Leprechaunism | 64 |
| MODY syndrome | 64 |
| Metabolic myopathy due to lactate transporter defect | 64 |
| NEUROD1 | 64 |
| PAX4 | 64 |
| PDX1 | 64 |
| PTF1A | 64 |
| Partial pancreas agenesis | 64 |
| Persistent hyperinsulinemic hypoglycemia of infancy | 64 |
| Rabson-Mendenhall syndrome | 64 |
| SLC16A1 | 64 |
| ZFP57 | 64 |
| F8 | 65 |
| F9 | 65 |
| Hemophilia | 65 |
| Hemophilia A | 65 |
| Hemophilia B | 65 |
| Mild hemophilia A | 65 |
| Mild hemophilia B | 65 |
| Moderately severe hemophilia A | 65 |
| Moderately severe hemophilia B | 65 |
| Severe hemophilia A | 65 |
| Severe hemophilia B | 65 |
| Symptomatic form of hemophilia A in female carriers | 65 |
| Symptomatic form of hemophilia B in female carriers | 65 |
| KRT81 | 66 |
| KRT83 | 66 |
| KRT86 | 66 |
| LOC100293351 | 66 |
| Monilethrix | 66 |
| Alpers syndrome | 67 |
| Ataxia, mitochondrial recessive, syndrome | 67 |
| C10orf2 | 67 |
| DGUOK | 67 |
| Infantile onset spinocerebellar ataxia | 67 |
| MPV17 | 67 |
| Mitochondrial DNA depletion syndrome | 67 |
| Myoneurogastrointestinal encephalopathy syndrome | 67 |
| POLG | 67 |
| POLG2 | 67 |
| Progressive external ophthalmoplegia | 67 |
| SLC25A4 | 67 |
| Sensory ataxic neuropathy - dysarthria - ophthalmoparesis | 67 |
| TK2 | 67 |
| TYMP | 67 |
| GNPTAB | 68 |
| GNPTG | 68 |
| Mucolipidosis type 2 | 68 |
| Mucolipidosis type 3 | 68 |
| Hurler syndrome | 69 |
| Hurler-Scheie syndrome | 69 |
| IDUA | 69 |
| Mucopolysaccharidosis type 1 | 69 |
| Scheie syndrome | 69 |
| GNS | 70 |
| HGSNAT | 70 |
| Mucopolysaccharidosis type 3 | 70 |
| NAGLU | 70 |
| SGSH | 70 |
| Congenital insensitivity to pain | 71 |
| Erythromelalgia | 71 |
| Paroxysmal extreme pain disorder | 71 |
| Primary erythermalgia | 71 |
| SCN9A | 71 |
| ACSL4 | 72 |
| AGTR2 | 72 |
| AMMECR1 | 72 |
| ARFGEF2 | 72 |
| ARHGEF6 | 72 |
| ARX | 72 |
| Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis | 72 |
| Atypical Rett syndrome | 72 |
| BRWD3 | 72 |
| CC2D1A | 72 |
| CDH15 | 72 |
| CDKL5 | 72 |
| CHL1 | 72 |
| CNTN4 | 72 |
| CRBN | 72 |
| Coffin-Lowry syndrome | 72 |
| DLG3 | 72 |
| Distal monosomy 3p | 72 |
| FG syndrome | 72 |
| FG syndrome, type 1 | 72 |
| FLNA | 72 |
| FOXG1 | 72 |
| FTSJ1 | 72 |
| Frontometaphyseal dysplasia | 72 |
| GDI1 | 72 |
| IL1RAPL1 | 72 |
| Intellectual deficit, X-linked - marfanoid habitus | 72 |
| Intellectual deficit, X-linked - psychosis - macroorchidism | 72 |
| Intestinal pseudoobstruction, chronic, idiopathic | 72 |
| KCNE1L | 72 |
| KIRREL3 | 72 |
| Lissencephaly, X-linked - agenesis of the corpus callosum - genital anomalies | 72 |
| MECP2 | 72 |
| MED12 | 72 |
| Micrencephaly - corpus callosum agenesis - abnormal genitalia | 72 |
| NTNG1 | 72 |
| Nodular neuronal heterotopia | 72 |
| Osteodysplasty, Melnick-Needles type | 72 |
| Otopalatodigital syndrome | 72 |
| Otopalatodigital syndrome, type 1 | 72 |
| Otopalatodigital syndrome, type 2 | 72 |
| PAK3 | 72 |
| PRSS12 | 72 |
| Partington syndrome | 72 |
| Periventricular nodular heterotopia | 72 |
| RPS6KA3 | 72 |
| Rare intellectual deficit without developmental anomaly | 72 |
| Rett syndrome | 72 |
| SYNGAP1 | 72 |
| Spasticity - intellectual deficit - epilepsy, X-linked | 72 |
| TSPAN7 | 72 |
| TUSC3 | 72 |
| Trisomy Xq28 | 72 |
| UPF3B | 72 |
| West syndrome | 72 |
| ZNF41 | 72 |
| ZNF674 | 72 |
| ZNF81 | 72 |
| PGM1 | 73 |
| PGM2 | 73 |
| PGM3 | 73 |
| Phosphoglucomutase deficiency | 73 |
| Buschke-Ollendorff syndrome | 74 |
| LEMD3 | 74 |
| Melorheostosis | 74 |
| Osteopoikilosis, isolated | 74 |
| Coats disease | 75 |
| Exudative retinopathy, familial | 75 |
| FZD4 | 75 |
| LRP5 | 75 |
| NDP | 75 |
| Norrie disease | 75 |
| Osteopetrosis, autosomal dominant, type 1 | 75 |
| Osteoporosis - pseudoglioma | 75 |
| Osteosclerosis - developmental delay - craniosynostosis | 75 |
| Osteosclerosis, autosomal dominant, Worth type | 75 |
| Retinopathy of prematurity | 75 |
| CDC73 | 76 |
| CDKN1B | 76 |
| Familial Parathyroid adenoma | 76 |
| Hyperparathyroidism - jaw tumor syndrome (HPT-JT) | 76 |
| Hyperparathyroidism, familial, isolated (FIHPT) | 76 |
| Hyperparathyroidism, primary, familial | 76 |
| MEN1 | 76 |
| Multiple endocrine neoplasia type 1 | 76 |
| Parathyroid carcinoma | 76 |
| Zollinger-Ellison syndrome | 76 |
| Dystonia-parkinsonism, Paisan-Ruiz type | 77 |
| FTL | 77 |
| HARP syndrome | 77 |
| Hyperferritinemia, hereditary, with congenital cataracts | 77 |
| Infantile neuroaxonal dystrophy | 77 |
| Neurodegeneration with brain iron accumulation | 77 |
| Neuroferritinopathy | 77 |
| PANK2 | 77 |
| PLA2G6 | 77 |
| Pantothenate-kinase-associated neurodegeneration | 77 |
| Autosomal dominant optic atrophy, OPA1 type | 78 |
| Deafness-optic atrophy syndrome | 78 |
| OPA1 | 78 |
| Optic atrophy | 78 |
| Treft-Sanborn-Carey syndrome | 78 |
| Acro-renal-ocular syndrome | 79 |
| IVIC syndrome | 79 |
| Okihiro syndrome | 79 |
| SALL4 | 79 |
| HESX1 | 80 |
| LHX3 | 80 |
| Nonacquired combined pituitary hormone deficiency | 80 |
| POU1F1 | 80 |
| PROP1 | 80 |
| Septooptic dysplasia | 80 |
| Ehlers-Danlos syndrome, type 6 | 81 |
| Nevo syndrome | 81 |
| PLOD1 | 81 |
| ZNF469 | 81 |
| Niemann-Pick disease | 82 |
| Niemann-Pick disease, type A | 82 |
| Niemann-Pick disease, type B | 82 |
| SMPD1 | 82 |
| ACE | 83 |
| AGT | 83 |
| AGTR1 | 83 |
| REN | 83 |
| Renal tubular dysgenesis | 83 |
| ANK1 | 84 |
| ATP6V0A4 | 84 |
| ATP6V1B1 | 84 |
| EPB41 | 84 |
| EPB42 | 84 |
| Elliptocytosis, common, hereditary | 84 |
| Elliptocytosis, hereditary | 84 |
| Pyropoikilocytosis, hereditary | 84 |
| Renal tubular acidosis, distal | 84 |
| SLC4A1 | 84 |
| SPTA1 | 84 |
| SPTB | 84 |
| Spherocytosis hereditary | 84 |
| Intellectual deficit X-linked, Sutherland-Haan type | 85 |
| Intellectual deficit, X-linked, Golabi-Ito-Hall type | 85 |
| PQBP1 | 85 |
| Renpenning syndrome | 85 |
| Pseudohypoaldosteronism, type 2 | 86 |
| Pseudohypoaldosteronism, type 2C | 86 |
| WNK1 | 86 |
| WNK4 | 86 |
| BMP15 | 87 |
| Blepharophimosis - epicanthus inversus - ptosis | 87 |
| DIAPH2 | 87 |
| FMR1 | 87 |
| FOXL2 | 87 |
| FSHR | 87 |
| Fragile X syndrome | 87 |
| Fragile X-associated tremor/ataxia syndrome | 87 |
| Hypergonadotropic ovarian dysgenesis | 87 |
| NOBOX | 87 |
| Ovarian hyperstimulation syndrome | 87 |
| POF1B | 87 |
| Premature ovarian failure | 87 |
| ALX4 | 88 |
| Chondrosarcoma | 88 |
| Craniosynostosis, Boston type | 88 |
| EXT1 | 88 |
| EXT2 | 88 |
| Exostoses, multiple | 88 |
| Langer-Giedion syndrome | 88 |
| MSX2 | 88 |
| Parietal foramina | 88 |
| Potocki-Shaffer syndrome | 88 |
| TRPS1 | 88 |
| Trichorhinophalangeal syndrome, type 1 and 3 | 88 |
| SS18 | 89 |
| SSX1 | 89 |
| SSX2 | 89 |
| SSX2B | 89 |
| SSX2IP | 89 |
| Synovialosarcoma | 89 |
| NAIP | 90 |
| Neurogenic arthrogryposis multiplex congenita | 90 |
| Proximal spinal muscular atrophy | 90 |
| Proximal spinal muscular atrophy, type 1 | 90 |
| Proximal spinal muscular atrophy, type 2 | 90 |
| Proximal spinal muscular atrophy, type 3 | 90 |
| Proximal spinal muscular atrophy, type 4 | 90 |
| SMN1 | 90 |
| SMN2 | 90 |
| Spinal muscular atrophy - arthrogryposis | 90 |
| FLII | 91 |
| MFAP4 | 91 |
| RAI1 | 91 |
| Smith-Magenis syndrome | 91 |
| Beckwith-Wiedemann syndrome | 92 |
| CDKN1C | 92 |
| COPG2 | 92 |
| CPA4 | 92 |
| GRB10 | 92 |
| Hemihypertrophy | 92 |
| IGF2 | 92 |
| MEST | 92 |
| NSD1 | 92 |
| SLC22A18 | 92 |
| Silver-Russell syndrome | 92 |
| Sotos syndrome | 92 |
| Weaver syndrome | 92 |
| Weaver-like syndrome | 92 |
| Langer mesomelic dysplasia | 93 |
| Leri-Weill dyschondrosteosis | 93 |
| SHOX | 93 |
| Short stature, idiopathic | 93 |
| CLINT1 | 94 |
| DISC1 | 94 |
| FXYD6 | 94 |
| Hyperprolinemia type I | 94 |
| PRODH | 94 |
| RGS4 | 94 |
| Schizophrenia | 94 |
| Heart-hand syndrome type 2 | 95 |
| Holt-Oram syndrome | 95 |
| Schinzel syndrome | 95 |
| TBX3 | 95 |
| TBX5 | 95 |
| HLA-DRB1 | 96 |
| LOC100294161 | 96 |
| LOC100294189 | 96 |
| LOC100294468 | 96 |
| Sarcoidosis | 96 |
| Kenny-Caffey syndrome | 97 |
| Kenny-Caffey syndrome, autosomal recessive | 97 |
| Sanjad-Sakati syndrome | 97 |
| TBCE | 97 |
| Baller-Gerold syndrome | 98 |
| RAPADILINO syndrome | 98 |
| RECQL4 | 98 |
| Rothmund-Thomson syndrome | 98 |
| Benign familial epilepsy of childhood with rolandic spikes | 99 |
| GPR56 | 99 |
| NHEJ1 | 99 |
| Polymicrogyria | 99 |
| Polymicrogyria, bilateral, perisylvian | 99 |
| Rolandic epilepsy - speech dyspraxia | 99 |
| SRPX2 | 99 |
| Severe combined immunodeficiency - microcephaly - growth retardation - sensitivity to ionizing radiation | 99 |
| TUBB2B | 99 |
| Ataxia - deafness - optic atrophy, lethal | 100 |
| Charcot-Marie-Tooth disease, X-linked | 100 |
| GJB1 | 100 |
| PRPS1 | 100 |
| Phosphoribosylpyrophosphate synthetase superactivity | 100 |
| X-linked Charcot-Marie-Tooth disease, type 1 | 100 |
| X-linked Charcot-Marie-Tooth disease, type 5 | 100 |
| ARSE | 101 |
| Chondrodysplasia punctata, brachytelephalangic | 101 |
| Chondrodysplasia punctata, nonrhizomelic type | 101 |
| EBP | 101 |
| X-linked dominant chondrodysplasia punctata | 101 |
| FOXC2 | 102 |
| Lymphedema - distichiasis | 102 |
| Lymphedema - ptosis | 102 |
| Yellow nail syndrome | 102 |
| ACAA1 | 103 |
| Adrenoleukodystrophy, neonatal | 103 |
| Bifunctional enzyme deficiency | 103 |
| HSD17B4 | 103 |
| PEX1 | 103 |
| PEX10 | 103 |
| PEX12 | 103 |
| PEX13 | 103 |
| PEX14 | 103 |
| PEX16 | 103 |
| PEX19 | 103 |
| PEX26 | 103 |
| PEX3 | 103 |
| PEX5 | 103 |
| PEX6 | 103 |
| PXMP3 | 103 |
| Pseudo-Zellweger syndrome | 103 |
| Refsum disease, infantile form | 103 |
| Zellweger syndrome | 103 |
| COFS syndrome | 104 |
| Cockayne syndrome | 104 |
| DDB2 | 104 |
| De Sanctis-Cacchione syndrome | 104 |
| ERCC1 | 104 |
| ERCC2 | 104 |
| ERCC3 | 104 |
| ERCC4 | 104 |
| ERCC5 | 104 |
| ERCC6 | 104 |
| ERCC8 | 104 |
| GTF2H5 | 104 |
| IBIDS syndrome | 104 |
| PIBIDS syndrome | 104 |
| POLH | 104 |
| UV-sensitive syndrome | 104 |
| XPA | 104 |
| XPC | 104 |
| Xeroderma pigmentosum | 104 |
| VWF | 105 |
| Von Willebrand disease | 105 |
| Von Willebrand disease, type 1 | 105 |
| Von Willebrand disease, type 2 | 105 |
| Von Willebrand disease, type 2A | 105 |
| Von Willebrand disease, type 2B | 105 |
| Von Willebrand disease, type 2M | 105 |
| Von Willebrand disease, type 2N | 105 |
| Von Willebrand disease, type 3 | 105 |
| Alveolar rhabdomyosarcoma | 106 |
| Craniofacial-deafness-hand syndrome | 106 |
| FOXO1 | 106 |
| PAX3 | 106 |
| PAX7 | 106 |
| Rhabdomyosarcoma | 106 |
| Waardenburg syndrome type 1 | 106 |
| Waardenburg syndrome type 3 | 106 |
| Thrombocytopenia, X-linked | 107 |
| WAS | 107 |
| Wiskott-Aldrich syndrome | 107 |
| X-linked severe congenital neutropenia | 107 |
| CYCS | 108 |
| MASTL | 108 |
| Nonsyndromic thrombocytopenia | 108 |
| Thrombocytopenia - chromosome breakage | 108 |
| JAK2 | 109 |
| Myelofibrosis with myeloid metaplasia | 109 |
| Polycythemia vera | 109 |
| Thrombocythemia, essential | 109 |
| 46,XX testicular disorder of sex development | 110 |
| 46,XY disorder of sex development - adrenal insufficiency | 110 |
| 46,XY gonadal dysgenesis - motor and sensory neuropathy | 110 |
| Anorchidia, bilateral | 110 |
| Congenital adrenal insufficiency due to adrenal hypoplasia | 110 |
| DHH | 110 |
| DMRT1 | 110 |
| DMRT2 | 110 |
| Gonadal dysgenesis, XY female type | 110 |
| Gonadal dysgenesis, XY type - associated anomalies | 110 |
| NR0B1 | 110 |
| NR5A1 | 110 |
| SRY | 110 |
| XY/XO gonadal dysgenesis | 110 |
| 4-hydroxybutyricaciduria | 111 |
| ALDH5A1 | 111 |
| 6-pyruvoyl-tetrahydropterin synthase deficiency | 112 |
| PTS | 112 |
| 6q terminal deletion | 113 |
| SIM1 | 113 |
| Aarskog-Scott syndrome | 114 |
| FGD1 | 114 |
| Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia | 115 |
| MTTP | 115 |
| Acatalasemia | 116 |
| CAT | 116 |
| Aceruloplasminemia | 117 |
| CP | 117 |
| Aconitase deficiency | 118 |
| ISCU | 118 |
| ACP2 | 119 |
| Acid phosphatase deficiency | 119 |
| Acrodermatitis enteropathica, zinc deficiency type | 120 |
| SLC39A4 | 120 |
| Acromegaly | 121 |
| SSTR5 | 121 |
| Acromesomelic dysplasia, Maroteaux type | 122 |
| NPR2 | 122 |
| ADAR | 123 |
| Acropigmentation of Dohi | 123 |
| Action myoclonus - renal failure syndrome | 124 |
| CD3E | 124 |
| IL7R | 124 |
| SCARB2 | 124 |
| Severe combined immunodeficiency T- B+ | 124 |
| ACTH deficiency, isolated | 125 |
| TBX19 | 125 |
| Actinic porokeratosis, disseminated superficial | 126 |
| SART3 | 126 |
| ACAD9 | 127 |
| Acyl-CoA dehydrogenase 9 deficiency | 127 |
| Acute myeloid leukemia with recurrent genetic anomaly | 128 |
| MYST3 | 128 |
| ACADVL | 129 |
| Acyl-CoA dehydrogenase, very long chain, deficiency of | 129 |
| ACADL | 130 |
| Acyl-CoA dehydrogenase, long chain, deficiency of | 130 |
| ACADM | 131 |
| Acyl-CoA dehydrogenase, medium chain, deficiency of | 131 |
| ADSL | 132 |
| Adenylosuccinate lyase deficiency | 132 |
| Adult-onset autosomal dominant leukodystrophy | 133 |
| LMNB1 | 133 |
| Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia | 134 |
| IGBP1 | 134 |
| Agammaglobulinemia, alymphocytotic type | 135 |
| DCLRE1C | 135 |
| LIG4 | 135 |
| LIG4 syndrome | 135 |
| Omenn syndrome | 135 |
| Primary immunodeficiency with skin granulomas | 135 |
| RAG1 | 135 |
| RAG2 | 135 |
| Alkaptonuria | 136 |
| HGD | 136 |
| ALDOA | 137 |
| Aldolase A deficiency | 137 |
| Alpha-mannosidosis | 138 |
| MAN2B1 | 138 |
| ALMS1 | 139 |
| Alstroem syndrome | 139 |
| Amish infantile epilepsy syndrome | 140 |
| ST3GAL5 | 140 |
| AMELX | 141 |
| Amelogenesis imperfecta | 141 |
| Amelogenesis imperfecta, hypocalcified type | 141 |
| Amelogenesis imperfecta, hypomaturation type | 141 |
| Amelogenesis imperfecta, hypomaturation-hypoplastic with taurodontism | 141 |
| Amelogenesis imperfecta, hypoplastic type | 141 |
| DLX3 | 141 |
| ENAM | 141 |
| FAM83H | 141 |
| KLK4 | 141 |
| MMP20 | 141 |
| Tricho-dento-osseous syndrome | 141 |
| Amyloidosis beta2-microglobulinic | 142 |
| B2M | 142 |
| ANE syndrome | 143 |
| RBM28 | 143 |
| Amyotrophic lateral sclerosis-parkinsonism-dementia complex | 144 |
| TRPM7 | 144 |
| Ankylosing spondylarthritis | 145 |
| HLA-B | 145 |
| ABCB7 | 146 |
| Anemia, sideroblastic, X-linked - ataxia | 146 |
| Antithrombin deficiency, congenital | 147 |
| SERPINC1 | 147 |
| Aplasia of lacrimal and salivary glands | 148 |
| FGF10 | 148 |
| Anonychia, congenital | 149 |
| RSPO4 | 149 |
| Anophthalmia/microphthalmia - esophageal atresia | 150 |
| SOX2 | 150 |
| Arterial calcification, generalized, of infancy | 151 |
| ENPP1 | 151 |
| Arterial tortuosity | 152 |
| SLC2A10 | 152 |
| Arthrogryposis - renal dysfunction - cholestasis | 153 |
| VPS33B | 153 |
| Apparent mineralocorticoid excess | 154 |
| HSD11B2 | 154 |
| Arginine:glycine amidinotransferase deficiency | 155 |
| GATM | 155 |
| ARG1 | 156 |
| Argininemia | 156 |
| ASL | 157 |
| Argininosuccinicaciduria | 157 |
| Aromatic L-aminoacid decarboxylase deficiency | 158 |
| DDC | 158 |
| ATCAY | 159 |
| Ataxia, cerebellar, Cayman type | 159 |
| Ataxia, spastic, Charlevoix-Saguenay type | 160 |
| SACS | 160 |
| Ataxia, Friedreich-like, with selective vitamin E deficiency | 161 |
| TTPA | 161 |
| AGA | 162 |
| Aspartylglucosaminuria | 162 |
| Ataxia due to ubiquinone deficiency, autosomal recessive | 163 |
| CABC1 | 163 |
| APTX | 164 |
| Ataxia - oculomotor apraxia, type 1 | 164 |
| Ataxia, spinocerebellar, type 13 | 165 |
| KCNC3 | 165 |
| ATXN10 | 166 |
| Ataxia, spinocerebellar, type 10 | 166 |
| Ataxia, spinocerebellar, type 11 | 167 |
| TTBK2 | 167 |
| Atransferrinemia | 168 |
| TF | 168 |
| AIRE | 169 |
| Autoimmune polyendocrinopathy, type 1 | 169 |
| Autosomal dominant hyper IgE syndrome | 170 |
| STAT3 | 170 |
| Autosomal dominant spastic paraplegia, type 6 | 171 |
| NIPA1 | 171 |
| Autosomal dominant spastic paraplegia, type 8 | 172 |
| KIAA0196 | 172 |
| Autosomal dominant spastic paraplegia, type 4 | 173 |
| SPAST | 173 |
| Autosomal dominant spastic paraplegia, type 42 | 174 |
| SLC33A1 | 174 |
| ATL1 | 175 |
| Autosomal dominant spastic paraplegia, type 3 | 175 |
| Autosomal dominant spastic paraplegia, type 31 | 176 |
| REEP1 | 176 |
| Allan-Herndon-Dudley syndrome | 177 |
| Autosomal dominant spastic paraplegia, type 13 | 177 |
| GJC2 | 177 |
| HSPD1 | 177 |
| Intellectual deficit, X-linked - Spastic paraplegia with iron deposits | 177 |
| PLP1 | 177 |
| Pelizaeus-Merzbacher disease | 177 |
| SLC16A2 | 177 |
| X-linked spastic paraplegia, type 2 | 177 |
| Autosomal dominant spastic paraplegia, type 10 | 178 |
| KIF5A | 178 |
| Autosomal dominant severe congenital neutropenia | 179 |
| CSF3R | 179 |
| ELANE | 179 |
| G6PC3 | 179 |
| GFI1 | 179 |
| Neutropenia cyclic | 179 |
| Neutropenia, congenital | 179 |
| Neutropenia, idiopathic, adult form | 179 |
| Autosomal recessive spastic paraplegia, type 39 | 180 |
| PNPLA6 | 180 |
| Autosomal recessive spastic paraplegia, type 21 | 181 |
| SPG21 | 181 |
| Autosomal recessive spastic paraplegia, type 20 | 182 |
| SPG20 | 182 |
| Autosomal recessive spastic paraplegia, type 7 | 183 |
| SPG7 | 183 |
| Bamforth syndrome | 184 |
| FOXE1 | 184 |
| Autosomal recessive hyper IgE syndrome | 185 |
| TYK2 | 185 |
| Autosomal recessive spastic paraplegia, type 11 | 186 |
| SPG11 | 186 |
| Autosomal recessive spastic paraplegia, type 15 | 187 |
| ZFYVE26 | 187 |
| Autosomal recessive omodysplasia | 188 |
| GPC6 | 188 |
| Autosomal recessive severe combined immunodeficiency T-B+NK+ | 189 |
| PTPRC | 189 |
| Bernard-Soulier syndrome | 190 |
| GP1BA | 190 |
| GP1BB | 190 |
| GP9 | 190 |
| Pseudo-Von Willebrand disease | 190 |
| Beta-mannosidosis | 191 |
| MANBA | 191 |
| Beta-ureidopropionase deficiency | 192 |
| UPB1 | 192 |
| Bethlem myopathy | 193 |
| COL6A1 | 193 |
| COL6A2 | 193 |
| COL6A3 | 193 |
| Congenital muscular dystrophy, Ullrich type | 193 |
| Bickel-Fanconi glycogenosis | 194 |
| SLC2A2 | 194 |
| BIDS syndrome | 195 |
| C7orf11 | 195 |
| Bietti's crystalline dystrophy | 196 |
| CYP4V2 | 196 |
| Beals syndrome | 197 |
| FBN2 | 197 |
| Borjeson-Forssman-Lehmann syndrome | 198 |
| PHF6 | 198 |
| BOR syndrome | 199 |
| Branchio-otic syndrome | 199 |
| EYA1 | 199 |
| Otofaciocervical syndrome | 199 |
| SIX1 | 199 |
| SIX5 | 199 |
| Bowen-Conradi syndrome | 200 |
| EMG1 | 200 |
| AKR1D1 | 201 |
| AMACR | 201 |
| Autosomal recessive spastic paraplegia, type 5A | 201 |
| Bile acid synthesis defect with cholestasis and malabsorption | 201 |
| Bile acid synthesis defect, congenital, type 1 | 201 |
| Bile acid synthesis defect, congenital, type 2 | 201 |
| Bile acid synthesis defect, congenital, type 3 | 201 |
| Bile acid synthesis defect, congenital, type 4 | 201 |
| CYP7B1 | 201 |
| HSD3B7 | 201 |
| Hereditary motor and sensory neuropathy | 201 |
| BLM | 202 |
| Bloom syndrome | 202 |
| Bleeding diathesis due to glycoprotein VI deficiency or integrin alpha2-beta1 deficiency | 203 |
| CD36 | 203 |
| CADASIL syndrome | 204 |
| NOTCH3 | 204 |
| C syndrome | 205 |
| CD96 | 205 |
| BCHE | 206 |
| Butyrylcholinesterase deficiency | 206 |
| ASPA | 207 |
| Canavan disease | 207 |
| Campomelic dysplasia | 208 |
| SOX9 | 208 |
| Brain demyelination due to methionine adenosyltransferase deficiency | 209 |
| MAT1A | 209 |
| Brain dysgenesis due to glutamine synthetase deficiency, congenital | 210 |
| GLUL | 210 |
| Branchio-oculo-facial syndrome | 211 |
| TFAP2A | 211 |
| ATP2A1 | 212 |
| Brody myopathy | 212 |
| Bruck syndrome | 213 |
| PLOD2 | 213 |
| CPT1A | 214 |
| Carnitine palmitoyl transferase 1 deficiency | 214 |
| Carnitine-acylcarnitine translocase deficiency | 215 |
| SLC25A20 | 215 |
| CPT2 | 216 |
| Carnitine palmitoyl transferase 2 deficiency | 216 |
| Carnitine uptake deficiency | 217 |
| SLC22A5 | 217 |
| Cardiomyopathy-exercise intolerance due to muscle and heart glycogen deficiency | 218 |
| GYS1 | 218 |
| CPS1 | 219 |
| Carbamoylphosphate synthetase deficiency | 219 |
| Cardiomyopathy - hypotonia - lactic acidosis | 220 |
| SLC25A3 | 220 |
| CDG syndrome, type Ie | 221 |
| DPM1 | 221 |
| CDG syndrome, type If | 222 |
| MPDU1 | 222 |
| ALG12 | 223 |
| CDG syndrome, type Ig | 223 |
| ALG8 | 224 |
| CDG syndrome, type Ih | 224 |
| ALG2 | 225 |
| CDG syndrome, type Ii | 225 |
| CDG syndrome, type IIa | 226 |
| MGAT2 | 226 |
| CDG syndrome, type IIb | 227 |
| MOGS | 227 |
| B4GALT1 | 228 |
| CDG syndrome, type IId | 228 |
| CDG syndrome | 229 |
| SLC35A1 | 229 |
| CDG syndrome, type Ia | 230 |
| PMM2 | 230 |
| CDG syndrome, type Ib | 231 |
| MPI | 231 |
| ALG6 | 232 |
| CDG syndrome, type Ic | 232 |
| ALG3 | 233 |
| CDG syndrome, type Id | 233 |
| Cataract-microcornea syndrome | 234 |
| SLC16A12 | 234 |
| Chediak-Higashi syndrome | 235 |
| LYST | 235 |
| Charcot-Marie-Tooth disease, type 4H | 236 |
| FGD4 | 236 |
| Charcot-Marie-Tooth disease, type 4D | 237 |
| NDRG1 | 237 |
| Charcot-Marie-Tooth disease, type 4B2 | 238 |
| SBF2 | 238 |
| Charcot-Marie-Tooth disease, type 4C | 239 |
| SH3TC2 | 239 |
| Charcot-Marie-Tooth disease, type 4B1 | 240 |
| MTMR2 | 240 |
| Char syndrome | 241 |
| TFAP2B | 241 |
| COG1 | 242 |
| Cerebro-costo-mandibular syndrome | 242 |
| Celiac disease | 243 |
| HLA-DQB1 | 243 |
| CEDNIK syndrome | 244 |
| SNAP29 | 244 |
| CDG syndrome, type Im | 245 |
| DOLK | 245 |
| ALG9 | 246 |
| CDG syndrome, type IL | 246 |
| ALG1 | 247 |
| CDG syndrome, type Ik | 247 |
| CDG syndrome, type Ij | 248 |
| DPAGT1 | 248 |
| CDG syndrome, type IIh | 249 |
| COG8 | 249 |
| CDG syndrome, type IIe | 250 |
| COG7 | 250 |
| Chylomicron retention disease | 251 |
| SAR1B | 251 |
| Chronic mucocutaneous candidiasis | 252 |
| ICAM1 | 252 |
| CHM | 253 |
| Choroideremia | 253 |
| CHILD syndrome | 254 |
| NSDHL | 254 |
| Cherubism | 255 |
| SH3BP2 | 255 |
| Chloride diarrhea, congenital | 256 |
| SLC26A3 | 256 |
| ALB | 257 |
| Congenital analbuminemia | 257 |
| Congenital alpha2 antiplasmin deficiency | 258 |
| SERPINF2 | 258 |
| Congenital factor XI deficiency | 259 |
| F11 | 259 |
| Congenital factor X deficiency | 260 |
| F10 | 260 |
| Congenital factor VII deficiency | 261 |
| F7 | 261 |
| Congenital factor II deficiency | 262 |
| F2 | 262 |
| Congenital enteropathy due to enteropeptidase deficiency | 263 |
| PRSS7 | 263 |
| CTDP1 | 264 |
| Congenital cataracts - facial dysmorphism - neuropathy | 264 |
| Congenital high-molecular-weight kininogen deficiency | 265 |
| KNG1 | 265 |
| Cleft palate | 266 |
| TBX22 | 266 |
| Cleidocranial dysplasia | 267 |
| RUNX2 | 267 |
| Cohen syndrome | 268 |
| VPS13B | 268 |
| CD3G | 269 |
| Combined immunodeficiency due to CD3gamma deficiency | 269 |
| Corpus callosum agenesis neuronopathy | 270 |
| SLC12A6 | 270 |
| Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis | 271 |
| LRP6 | 271 |
| Costello syndrome | 272 |
| HRAS | 272 |
| CNTNAP2 | 273 |
| Cortical dysplasia - focal epilepsy syndrome | 273 |
| Corticosteroid-binding globulin deficiency | 274 |
| SERPINA6 | 274 |
| Craniofrontonasal dysplasia | 275 |
| EFNB1 | 275 |
| Coxo-podo-patellar syndrome | 276 |
| TBX4 | 276 |
| Cranio osteoarthropathy | 277 |
| HPGD | 277 |
| Craniolenticulosutural dysplasia | 278 |
| SEC23A | 278 |
| Cushing syndrome | 279 |
| PDE11A | 279 |
| Currarino triad | 280 |
| MNX1 | 280 |
| Congenital muscular dystrophy type 1A | 281 |
| LAMA2 | 281 |
| Congenital muscular dystrophy with integrin deficiency | 282 |
| ITGA7 | 282 |
| CLN3 | 283 |
| CLN5 | 283 |
| CLN6 | 283 |
| CLN8 | 283 |
| CTSD | 283 |
| Congenital neuronal ceroid lipofuscinosis | 283 |
| Infantile neuronal ceroid lipofuscinosis | 283 |
| Juvenile neuronal ceroid lipofuscinosis | 283 |
| Late infantile neuronal ceroid lipofuscinosis | 283 |
| MFSD8 | 283 |
| Neuronal ceroid lipofuscinosis | 283 |
| PPT1 | 283 |
| Progressive epilepsy-intellectual deficit, Finnish type | 283 |
| TPP1 | 283 |
| Congenital plasminogen activator inhibitor type 1 deficiency | 284 |
| SERPINE1 | 284 |
| Congenital prekallikrein deficiency | 285 |
| KLKB1 | 285 |
| Contracture syndrome, lethal, congenital, type 2 | 286 |
| ERBB3 | 286 |
| CPOX | 287 |
| Coproporphyria, hereditary | 287 |
| Contracture syndrome, lethal, congenital, type 3 | 288 |
| PIP5K1C | 288 |
| Cornea plana, congenital | 289 |
| KERA | 289 |
| Corneal dystrophy, crystalline, of Schnyder | 290 |
| UBIAD1 | 290 |
| ATN1 | 291 |
| Dentatorubral pallidoluysian atrophy | 291 |
| Deletion 2q24 | 292 |
| STK25 | 292 |
| Dehydratase deficiency | 293 |
| PCBD1 | 293 |
| Diabetes, neonatal - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys | 294 |
| GLIS3 | 294 |
| CAPN10 | 295 |
| Diabetes mellitus | 295 |
| AVP | 296 |
| Diabetes insipidus, non-acquired, central | 296 |
| ACADSB | 297 |
| Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency | 297 |
| DHCR24 | 298 |
| Desmosterolosis | 298 |
| Cystinuria | 299 |
| Hypotonia - cystinuria syndrome | 299 |
| PREPL | 299 |
| SLC3A1 | 299 |
| SLC7A9 | 299 |
| CTH | 300 |
| Cystathioninuria | 300 |
| CTNS | 301 |
| Cystinosis | 301 |
| Cystic leukoencephalopathy without megalencephaly | 302 |
| RNASET2 | 302 |
| Cutaneous amyloidosis | 303 |
| OSMR | 303 |
| Dystonia, primary, DYT6 type | 304 |
| THAP1 | 304 |
| CDAN1 | 305 |
| Dyserythropoietic anemia, congenital | 305 |
| Dyserythropoietic anemia, congenital, type I | 305 |
| Dyserythropoietic anemia, congenital, type II | 305 |
| SEC23B | 305 |
| Dyskinesia, paroxysmal non-kinesigenic | 306 |
| PNKD | 306 |
| Ehlers-Danlos syndrome | 307 |
| Ehlers-Danlos syndrome, spondylocheiro dysplastic type | 307 |
| Ehlers-Danlos syndrome, type 10 | 307 |
| FN1 | 307 |
| SLC39A13 | 307 |
| B4GALT7 | 308 |
| Ehlers-Danlos syndrome, progeroid type | 308 |
| Ectodermal dysplasia, ''pure'' hair-nail type | 309 |
| KRT85 | 309 |
| Ectodermal dysplasia - skin fragility syndrome | 310 |
| PKP1 | 310 |
| DNAJC19 | 311 |
| Dilated cardiomyopathy with ataxia | 311 |
| Diarrhea-vomiting due to trehalase deficiency | 312 |
| TREH | 312 |
| Dihydropteridine reductase deficiency | 313 |
| QDPR | 313 |
| DPCR1 | 314 |
| Diffuse panbronchiolitis | 314 |
| DPYS | 315 |
| Dihydropyrimidinuria | 315 |
| DPYD | 316 |
| Dihydropyrimidine dehydrogenase deficiency | 316 |
| ABCC2 | 317 |
| Dubin-Johnson syndrome | 317 |
| Dysequilibrium syndrome | 318 |
| VLDLR | 318 |
| Dyserythropoietic anemia with thrombocytopenia | 319 |
| GATA1 | 319 |
| Distal myopathy with vocal cord weakness | 320 |
| MATR3 | 320 |
| DBH | 321 |
| Dopamine beta-hydroxylase deficiency | 321 |
| Doyne honeycomb retinal dystrophy (DHRD) | 322 |
| EFEMP1 | 322 |
| ESR1 | 323 |
| Estrogen resistance syndrome | 323 |
| CHRNA2 | 324 |
| CHRNA4 | 324 |
| CHRNB2 | 324 |
| Epilepsy, nocturnal, frontal lobe type | 324 |
| Epilepsy, partial, familial | 324 |
| ALDH7A1 | 325 |
| Epilepsy, pyridoxin-dependent | 325 |
| Epilepsy, X-linked - learning disabilities - behavior disorders | 326 |
| SYN1 | 326 |
| Epilepsy, generalized - paroxysmal dyskinesia | 327 |
| KCNMA1 | 327 |
| Epilepsy, lateral temporal lobe, autosomal dominant | 328 |
| LGI1 | 328 |
| ENO3 | 329 |
| Enolase deficiency | 329 |
| Endocrine-cerebro-osteodysplasia syndrome | 330 |
| ICK | 330 |
| ETHE1 | 331 |
| Encephalopathy, ethylmalonic | 331 |
| Encephalopathy with neuroserpin inclusion bodies, familial form | 332 |
| SERPINI1 | 332 |
| Elejalde syndrome | 333 |
| Griscelli disease | 333 |
| MLPH | 333 |
| MYO5A | 333 |
| RAB27A | 333 |
| ADAMTS2 | 334 |
| Ehlers-Danlos syndrome, type 7C | 334 |
| Encephalopathy due to hydroxykynureninuria | 335 |
| KYNU | 335 |
| Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria | 336 |
| MPST | 336 |
| Encephalomyopathy, mitochondrial, Ghezzi-Zeviani type | 337 |
| FASTKD2 | 337 |
| Focal dermal hypoplasia | 338 |
| PORCN | 338 |
| FSHB | 339 |
| Follicle stimulating hormone (FSH) deficiency, isolated | 339 |
| Folate malabsorption, hereditary | 340 |
| SLC46A1 | 340 |
| FTCD | 341 |
| Formiminoglutamic aciduria | 341 |
| AFF2 | 342 |
| FRAXE syndrome | 342 |
| Free sialic acid storage disease | 343 |
| SLC17A5 | 343 |
| FRAXF syndrome | 344 |
| TMEM185A | 344 |
| AP1S2 | 345 |
| Fried syndrome | 345 |
| ASAH1 | 346 |
| Farber lipogranulomatosis | 346 |
| Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 | 347 |
| TSFM | 347 |
| Ferroportin disease | 348 |
| SLC40A1 | 348 |
| Fetal and neonatal alloimmune thrombocytopenia | 349 |
| ITGA2 | 349 |
| EPHX1 | 350 |
| Fetal hydantoin syndrome | 350 |
| ACVR1 | 351 |
| Fibrodysplasia ossificans progressiva | 351 |
| Familial mediterranean fever | 352 |
| MEFV | 352 |
| FTH1 | 353 |
| Familial iron overload | 353 |
| CLDN19 | 354 |
| Familial hypomagnesemia - hypercalciuria - nephrocalcinosis - severe ocular involvement | 354 |
| Fabry disease | 355 |
| GLA | 355 |
| Facio-oculo-acoustico-renal syndrome | 356 |
| LRP2 | 356 |
| Familial dysautonomia | 357 |
| IKBKAP | 357 |
| CINCA syndrome | 358 |
| Familial cold urticaria | 358 |
| Muckle-Wells syndrome | 358 |
| NLRP12 | 358 |
| NLRP3 | 358 |
| GSS | 359 |
| Glutathione synthetase deficiency | 359 |
| Glycogen storage disease due to LAMP-2 deficiency | 360 |
| LAMP2 | 360 |
| C7orf10 | 361 |
| Glutaryl-CoA oxidase deficiency | 361 |
| Glucocorticoid resistance | 362 |
| NR3C1 | 362 |
| G6PD | 363 |
| Glucose-6-phosphate-dehydrogenase deficiency | 363 |
| Glucose-galactose malabsorption | 364 |
| SLC5A1 | 364 |
| GPI | 365 |
| Glucosephosphate isomerase deficiency | 365 |
| GLMN | 366 |
| Glomuvenous malformation | 366 |
| GAN | 367 |
| Giant axonal neuropathy | 367 |
| Ghosal hematodiaphyseal dysplasia | 368 |
| TBXAS1 | 368 |
| Genetic sideroblastic anemia | 369 |
| SLC25A38 | 369 |
| Generalized resistance to thyroid hormone | 370 |
| Resistance to thyrotropin-releasing hormone syndrome | 370 |
| Selective pituitary resistance to thyroid hormone | 370 |
| THRB | 370 |
| TRHR | 370 |
| Generalized pseudohypoaldosteronism type 1 | 371 |
| Hypertension due to gain-of-function mutations in the mineralocorticoid receptor | 371 |
| Liddle syndrome | 371 |
| NR3C2 | 371 |
| Pseudohypoaldosteronism, type 1 | 371 |
| Renal pseudohypoaldosteronism type 1 | 371 |
| SCNN1A | 371 |
| SCNN1B | 371 |
| SCNN1G | 371 |
| ADAMTSL2 | 372 |
| Geleophysic dwarfism | 372 |
| GGT1 | 373 |
| Gamma-glutamyl transpeptidase deficiency | 373 |
| GCLC | 374 |
| Gamma-glutamylcysteine synthetase deficiency | 374 |
| ABAT | 375 |
| Gamma aminobutyric acid transaminase deficiency | 375 |
| CTSA | 376 |
| Galactosialidosis | 376 |
| FUCA1 | 377 |
| Fucosidosis | 377 |
| Fructosuria | 378 |
| KHK | 378 |
| FBP1 | 379 |
| Fructose-1,6-bisphosphatase deficiency | 379 |
| ALDOB | 380 |
| Fructose intolerance | 380 |
| ALX3 | 381 |
| Frontonasal dysplasia | 381 |
| FXN | 382 |
| Friedreich ataxia | 382 |
| GFM1 | 383 |
| Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 | 383 |
| BCMO1 | 384 |
| Hereditary hypercarotenemia and vitamin A deficiency | 384 |
| CYB5A | 385 |
| CYB5R3 | 385 |
| Hereditary methemoglobinemia | 385 |
| Recessive hereditary methemoglobinemia type 1 | 385 |
| Recessive hereditary methemoglobinemia type 2 | 385 |
| AK1 | 386 |
| Hemolytic anemia due to adenylate kinase deficiency | 386 |
| GSR | 387 |
| Hemolytic anemia due to glutathione reductase deficiency | 387 |
| Hemolytic anemia due to red cell pyruvate kinase deficiency | 388 |
| PKLR | 388 |
| HK1 | 389 |
| Hemolytic anemia, nonspherocytic, due to hexokinase deficiency | 389 |
| Hepatic veno-occlusive disease - immunodeficiency | 390 |
| SP110 | 390 |
| ALAD | 391 |
| ALAS2 | 391 |
| FECH | 391 |
| GLRX5 | 391 |
| HAMP | 391 |
| HFE | 391 |
| HFE2 | 391 |
| Hemochromatosis | 391 |
| Hemochromatosis, adult form | 391 |
| Hemochromatosis, juvenile form | 391 |
| Iron deficiency anemia | 391 |
| PPOX | 391 |
| Porphyria | 391 |
| Porphyria cutanea tarda | 391 |
| Porphyria, Variegata | 391 |
| Porphyria, acute hepatic | 391 |
| Porphyria, congenital erythropoietic | 391 |
| Protoporphyria, erythropoietic | 391 |
| Sideroblastic anemia | 391 |
| Sideroblastic anemia, X-linked | 391 |
| TFR2 | 391 |
| TMPRSS6 | 391 |
| UROD | 391 |
| UROS | 391 |
| GPX1 | 392 |
| Hemolytic anemia | 392 |
| FCGR3B | 393 |
| Hashimoto struma | 393 |
| Helicoid peripapillary chorioretinal degeneration | 394 |
| TEAD1 | 394 |
| GHR | 395 |
| Growth delay due to insulin-like growth factor I deficiency | 395 |
| IGF1 | 395 |
| STAT5B | 395 |
| Short stature due to growth hormone resistance | 395 |
| Growth delay due to insulin-like growth factor I resistance | 396 |
| IGF1R | 396 |
| H syndrome | 397 |
| SLC29A3 | 397 |
| GAMT | 398 |
| Guanidinoacetate methyltransferase deficiency | 398 |
| Greenberg dysplasia | 399 |
| LBR | 399 |
| Goldberg-Shprintzen megacolon syndrome | 400 |
| KIAA1279 | 400 |
| ANO5 | 401 |
| Gnathodiaphyseal dysplasia | 401 |
| GYS2 | 402 |
| Glycogen storage disease, type 0 | 402 |
| GAA | 403 |
| Glycogen storage disease type 2 | 403 |
| Glycogen storage disease type 7 | 404 |
| PFKM | 404 |
| Glycogen storage disease type 5 | 405 |
| PYGM | 405 |
| GBE1 | 406 |
| Glycogen storage disease type 4 | 406 |
| AGL | 407 |
| Glycogen storage disease type 3 | 407 |
| Hyperornithinemia | 408 |
| OAT | 408 |
| Hyperlipidemia due to hepatic triglyceride lipase deficiency | 409 |
| LIPC | 409 |
| APOA5 | 410 |
| APOC2 | 410 |
| GPIHBP1 | 410 |
| Hyperlipoproteinemia type 1 | 410 |
| Hyperlipoproteinemia, type 4 | 410 |
| Hyperlipoproteinemia, type 5 | 410 |
| LIPI | 410 |
| LPL | 410 |
| Major hypertriglyceridemia | 410 |
| GLUD1 | 411 |
| Hyperinsulinism-hyperammonemia syndrome | 411 |
| AICDA | 412 |
| CD40 | 412 |
| Ectodermal dysplasia - anhidrotic, with immunodeficiency - osteopetrosis - lymphedema | 412 |
| Hyper-IgM syndrome | 412 |
| Hyper-IgM syndrome, autosomal recessive | 412 |
| IKBKG | 412 |
| Incontinentia pigmenti | 412 |
| UNG | 412 |
| CD40LG | 413 |
| Hyper-IgM syndrome, type 1 | 413 |
| Hypohidrotic ectodermal dysplasia with immunodeficiency | 414 |
| NFKBIA | 414 |
| CD19 | 415 |
| Hypogammaglobulinemia due to CD19 deficiency | 415 |
| ALDH4A1 | 416 |
| Hyperprolinemia, type II | 416 |
| Hyperpigmentation progressive, familial | 417 |
| KITLG | 417 |
| ALPL | 418 |
| Hypophosphatasia | 418 |
| GATA3 | 419 |
| Hypoparathyroidism - deafness - renal disease | 419 |
| Hypomagnesemia caused by selective magnesium malabsorption | 420 |
| TRPM6 | 420 |
| FAM126A | 421 |
| Hypomyelination - congenital cataract | 421 |
| Ichthyosis, X-linked | 422 |
| STS | 422 |
| FLG | 423 |
| Ichthyosis vulgaris, autosomal dominant | 423 |
| Ichthyosis prematurity syndrome | 424 |
| SLC27A4 | 424 |
| Ichthyosis bullosa of Siemens | 425 |
| KRT2 | 425 |
| DNMT3B | 426 |
| ICF syndrome | 426 |
| CDSN | 427 |
| Hypotrichosis simplex of the scalp | 427 |
| DSG4 | 428 |
| Hypotrichosis simplex | 428 |
| LIPH | 428 |
| LPAR6 | 428 |
| Woolly hair | 428 |
| Hypotrichosis - lymphedema - telangiectasia | 429 |
| SOX18 | 429 |
| Hypotrichosis - ichthyosis, congenital | 430 |
| ST14 | 430 |
| Hypotonia with lactic acidemia and hyperammonemia | 431 |
| MRPS22 | 431 |
| Hypotonia - failure to thrive - microcephaly | 432 |
| LTC4S | 432 |
| Hereditary sensory and autonomic neuropathy, type 1 | 433 |
| SPTLC1 | 433 |
| HSN2 | 434 |
| Hereditary sensory and autonomic neuropathy, type 2 | 434 |
| Hereditary neuralgic amyotrophy | 435 |
| SEPT9 | 435 |
| CIRH1A | 436 |
| Hereditary North American Indian childhood cirrhosis | 436 |
| BCL11A | 437 |
| Hereditary persistence of fetal hemoglobin | 437 |
| HAL | 438 |
| Histidinemia | 438 |
| AP3B1 | 439 |
| Hermansky-Pudlak syndrome type 2 | 439 |
| HYAL1 | 440 |
| Hyaluronidase deficiency | 440 |
| Hydatidiform mole | 441 |
| NLRP7 | 441 |
| Hyperammonemia due to N-acetylglutamate synthetase deficiency | 442 |
| NAGS | 442 |
| HYLS1 | 443 |
| Hydrolethalus | 443 |
| Caudal regression sequence | 444 |
| Familial caudal dysgenesis | 444 |
| Homocystinuria due to methylenetetrahydrofolate reductase deficiency | 444 |
| MTHFD1 | 444 |
| MTHFR | 444 |
| MTR | 444 |
| Methylcobalamin deficiency, cbl G type | 444 |
| Neural tube defect | 444 |
| Spina bifida | 444 |
| T | 444 |
| VANGL1 | 444 |
| CBS | 445 |
| Homocystinuria due to cystathionine beta-synthase deficiency | 445 |
| HTT | 446 |
| Huntington disease | 446 |
| Huntington disease-like 2 | 447 |
| JPH3 | 447 |
| GK | 448 |
| Hyperglycerolemia | 448 |
| ADCY10 | 449 |
| Hypercalciuria, idiopathic | 449 |
| Hypercoagulability syndrome, due to glycosylphosphatidylinositol deficiency | 450 |
| PIGM | 450 |
| Johanson-Blizzard syndrome | 451 |
| UBR1 | 451 |
| IFT80 | 452 |
| Jeune syndrome | 452 |
| Kabuki syndrome | 453 |
| MACROD2 | 453 |
| COL18A1 | 454 |
| Knobloch syndrome | 454 |
| HAX1 | 455 |
| Kostmann syndrome | 455 |
| Keratosis follicularis spinulosa decalvans | 456 |
| SAT1 | 456 |
| ACAT1 | 457 |
| Ketoacidosis due to betaketothiolase deficiency | 457 |
| Keutel syndrome | 458 |
| MGP | 458 |
| CACNB2 | 459 |
| Lambert-Eaton myasthenic syndrome | 459 |
| Lactic acidosis, congenital | 460 |
| SUCLG1 | 460 |
| LCT | 461 |
| Lactase deficiency, congenital | 461 |
| GALC | 462 |
| Krabbe disease | 462 |
| HLA-DRA | 463 |
| Lassueur-Graham-Little syndrome | 463 |
| Laurin-Sandrow syndrome | 464 |
| MIPOL1 | 464 |
| Lateral facial cleft | 465 |
| SATB2 | 465 |
| Lathosterolosis | 466 |
| SC5DL | 466 |
| FOXP3 | 467 |
| Immune dysregulation - polyendocrinopathy - enteropathy, X-linked | 467 |
| IRAK4 | 468 |
| Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency | 468 |
| Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia | 469 |
| VCP | 469 |
| Intellectual deficit, Birk-Barel type | 470 |
| KCNK9 | 470 |
| Intellectual deficit, X-linked - cerebellar hypoplasia | 471 |
| OPHN1 | 471 |
| Intellectual deficit, X-linked, Siderius type | 472 |
| PHF8 | 472 |
| Intellectual deficit, X-linked, Raymond type | 473 |
| ZDHHC9 | 473 |
| Intellectual deficit, X-linked, Nascimento type | 474 |
| UBE2A | 474 |
| Intellectual deficit, X-linked, Cantagrel type | 475 |
| KIAA2022 | 475 |
| Intellectual deficit, X-linked, syndromic, due to JARID1C mutation | 476 |
| KDM5C | 476 |
| Intellectual deficit, X-linked, Stocco Dos Santos type | 477 |
| SHROOM4 | 477 |
| Intellectual deficit, X-linked, South African type | 478 |
| SLC9A6 | 478 |
| Intellectual deficit, X-linked, Snyder type | 479 |
| SMS | 479 |
| Intellectual deficit, X-linked, with seizures, short stature and midface hypoplasia | 480 |
| SLC6A8 | 480 |
| HUWE1 | 481 |
| Intellectual deficit, X-linked, Turner type | 481 |
| HOXD10 | 482 |
| Isolated congenital vertical talus | 482 |
| ACAD8 | 483 |
| Isobutyryl-CoA dehydrogenase deficiency | 483 |
| GDF6 | 484 |
| Isolated Klippel-Feil syndrome | 484 |
| CNNM4 | 485 |
| Jalili syndrome | 485 |
| IVD | 486 |
| Isovaleric acidemia | 486 |
| Medullary cystic kidney disease, autosomal dominant, with or without hyperuricemia | 487 |
| UMOD | 487 |
| AP1S1 | 488 |
| MEDNIK syndrome | 488 |
| McLeod neuroacanthocytosis syndrome | 489 |
| XK | 489 |
| Matthew-Wood syndrome | 490 |
| STRA6 | 490 |
| Marinesco-Sjogren syndrome | 491 |
| SIL1 | 491 |
| Mammary polyadenomatosis | 492 |
| PRLR | 492 |
| AURKC | 493 |
| Male infertility associated with large-headed multiflagellar polyploid spermatozoa | 493 |
| MLYCD | 494 |
| Malonic aciduria | 494 |
| Mal de Meleda | 495 |
| SLURP1 | 495 |
| Malabsorptive diarrhea due to paucity of enteroendocrine cells, congenital | 496 |
| NEUROG3 | 496 |
| LPIN2 | 497 |
| Majeed syndrome | 497 |
| FLT4 | 498 |
| Lymphedema, congenital | 498 |
| Lysinuric protein intolerance | 499 |
| SLC7A7 | 499 |
| Microcephaly, Amish type | 500 |
| SLC25A19 | 500 |
| EOMES | 501 |
| Microcephaly - polymicrogyria - corpus callosum agenesis | 501 |
| MTRR | 502 |
| Methylcobalamin deficiency type cbl E | 502 |
| LMBRD1 | 503 |
| MMACHC | 503 |
| MMADHC | 503 |
| Methylmalonic acidemia - homocystinuria | 503 |
| Methylmalonicacidemia - homocystinuria, type cbl C | 503 |
| Methylmalonicacidemia - homocystinuria, type cbl D | 503 |
| Methylmalonicacidemia - homocystinuria, type cbl F | 503 |
| COL10A1 | 504 |
| Metaphyseal chondrodysplasia, Schmid type | 504 |
| MLC1 | 505 |
| Megalencephaly - cystic leukodystrophy | 505 |
| Leukemia, T-cell large granular lymphocyte | 506 |
| TCL1A | 506 |
| FERMT3 | 507 |
| ITGB2 | 507 |
| Leukocyte adhesion deficiency | 507 |
| Leukocyte adhesion deficiency, type I | 507 |
| Leukocyte adhesion deficiency, type II | 507 |
| Leukocyte adhesion deficiency, type III | 507 |
| SLC35C1 | 507 |
| Leukemia, undifferentiated, acute | 508 |
| SET | 508 |
| HOXA10 | 509 |
| Leukemia, precursor T-cell lymphoblastic, acute | 509 |
| HPRT1 | 510 |
| Lesch-Nyhan syndrome | 510 |
| Leprosy | 511 |
| TLR2 | 511 |
| ECM1 | 512 |
| Lipoid proteinosis | 512 |
| Lissencephaly due to TUBA1A mutation | 513 |
| TUBA1A | 513 |
| DCX | 514 |
| Lissencephaly, type 1, due to doublecortin (DCX) gene mutation | 514 |
| Lipodystrophy, familial partial, associated with PPARG mutations | 515 |
| PPARG | 515 |
| AKT2 | 516 |
| Lipodystrophy, familial partial, due to AKT2 mutations | 516 |
| Lipoid adrenal hyperplasia, congenital | 517 |
| STAR | 517 |
| FA2H | 518 |
| Leukodystrophy - spastic paraplegia - dystonia | 518 |
| Leukoencephalopathy - dystonia - motor neuropathy | 519 |
| SCP2 | 519 |
| DARS2 | 520 |
| Leukoencephalopathy with brain stem, spinal cord involvement - lactate elevation | 520 |
| Lewy body dementia | 521 |
| SNCB | 521 |
| Myopathy due to phosphoglycerate mutase deficiency | 522 |
| PGAM2 | 522 |
| GH1 | 523 |
| GHRHR | 523 |
| GHSR | 523 |
| Nanism due to growth hormone qualitative anomaly | 523 |
| Nonacquired isolated growth hormone deficiency | 523 |
| HCRT | 524 |
| Narcolepsy-cataplexy | 524 |
| LMX1B | 525 |
| Nail-patella syndrome | 525 |
| BAG3 | 526 |
| Muscular dystrophy, Selcen type | 526 |
| Muscular dystrophy, limb-girdle, autosomal recessive, type 2E | 527 |
| SGCB | 527 |
| Muscular dystrophy, limb-girdle, autosomal recessive, type 2D | 528 |
| SGCA | 528 |
| Muscular dystrophy, limb-girdle, autosomal recessive, type 2C | 529 |
| SGCG | 529 |
| CAPN3 | 530 |
| Muscular dystrophy, limb-girdle, autosomal recessive, type 2A | 530 |
| MPO | 531 |
| Myeloperoxidase deficiency | 531 |
| DEK | 532 |
| MECOM | 532 |
| Myelodysplastic syndromes | 532 |
| NUP214 | 532 |
| Refractory anemia with excess blasts | 532 |
| Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality | 533 |
| RPS14 | 533 |
| ALDH18A1 | 534 |
| Neurocutaneous syndrome, Bicknell type | 534 |
| HIBCH | 535 |
| Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency | 535 |
| Neurofibromatosis 1-like syndrome | 536 |
| SPRED1 | 536 |
| CCT5 | 537 |
| Neuropathy sensory - spastic paraplegia | 537 |
| ACY1 | 538 |
| Neurological conditions associated with aminoacylase 1 deficiency | 538 |
| NPHS1 | 539 |
| Nephrotic syndrome, congenital, Finnish type | 539 |
| Necrotizing encephalopathy, acute, autosomal dominant | 540 |
| RANBP2 | 540 |
| CLDN1 | 541 |
| Neonatal ichthyosis - sclerosing cholangitis | 541 |
| Neuroacanthocytosis | 542 |
| VPS13A | 542 |
| Netherton disease | 543 |
| SPINK5 | 543 |
| MMEP syndrome | 544 |
| SNX3 | 544 |
| Mitochondrial myopathy with sideroblastic anemia | 545 |
| PUS1 | 545 |
| Microcytic anemia with liver iron overload | 546 |
| SLC11A2 | 546 |
| MYO5B | 547 |
| Microvillous inclusion disease | 547 |
| HCCS | 548 |
| Midas syndrome | 548 |
| Mitochondrial encephalomyopathy aminoacidopathy | 549 |
| SUCLA2 | 549 |
| GUSB | 550 |
| Mucopolysaccharidosis type 7 | 550 |
| MULIBREY nanism | 551 |
| TRIM37 | 551 |
| CD24 | 552 |
| Multiple sclerosis | 552 |
| FLNC | 553 |
| Muscle filaminopathy | 553 |
| Motor and cognitive disorder due to sepiapterin reductase deficiency | 554 |
| SPR | 554 |
| BUB1B | 555 |
| Mosaic variegated aneuploidy syndrome | 555 |
| Mowat-Wilson syndrome | 556 |
| ZEB2 | 556 |
| Mucocutaneous venous malformations | 557 |
| TEK | 557 |
| MCOLN1 | 558 |
| Mucolipidosis type 4 | 558 |
| IDS | 559 |
| Mucopolysaccharidosis type 2 | 559 |
| PRG4 | 560 |
| Pericarditis - arthropathy - camptodactyly | 560 |
| B3GALTL | 561 |
| Peters-plus syndrome | 561 |
| FBXO7 | 562 |
| Parkinsonian-pyramidal syndrome | 562 |
| Pelviscapular dysplasia | 563 |
| TBX15 | 563 |
| ATP2C1 | 564 |
| Pemphigus, benign chronic familial | 564 |
| PGK1 | 565 |
| Phosphoglycerate kinase 1 deficiency | 565 |
| DICER1 | 566 |
| Pleuro-pulmonary blastoma | 566 |
| PAH | 567 |
| Phenylketonuria | 567 |
| Peutz-Jeghers syndrome | 568 |
| STK11 | 568 |
| OGDH | 569 |
| Oxoglutaricaciduria | 569 |
| P2RY12 | 570 |
| P2Y12, deficiency of | 570 |
| CA2 | 571 |
| Osteopetrosis with renal tubular acidosis | 571 |
| FAM20C | 572 |
| Osteosclerotic bone dysplasia, lethal | 572 |
| Paget disease juvenile type | 573 |
| TNFRSF11B | 573 |
| Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma | 574 |
| RSPO1 | 574 |
| KRT9 | 575 |
| Palmoplantar hyperkeratosis, localized, epidermolytic | 575 |
| KANK1 | 576 |
| Palsy of trochlear nerve, congenital, familial form | 576 |
| COX4I2 | 577 |
| Pancreatic insufficiency - anemia - hyperostosis | 577 |
| BCOR | 578 |
| Oculofaciocardiodental syndrome | 578 |
| Oculopharyngeal muscular dystrophy | 579 |
| PABPN1 | 579 |
| HMX1 | 580 |
| Oculoauricular syndrome, Schorderet type | 580 |
| Obesity due to pro-opiomelanocortin deficiency | 581 |
| POMC | 581 |
| MC4R | 582 |
| Obesity due to melanocortin-4 receptor deficiency | 582 |
| Obesity due to prohormone convertase-I deficiency | 583 |
| PCSK1 | 583 |
| LEP | 584 |
| Obesity due to congenital leptin deficiency | 584 |
| LEPR | 585 |
| Obesity due to leptin receptor gene deficiency | 585 |
| FAM123B | 586 |
| Osteopathia striata - cranial sclerosis | 586 |
| Orotic aciduria hereditary | 587 |
| UMPS | 587 |
| OTC | 588 |
| Ornithine carbamoyltransferase deficiency | 588 |
| MID1 | 589 |
| Opitz BBB/G syndrome | 589 |
| Ophthalmoplegia progressive external scoliosis | 590 |
| ROBO3 | 590 |
| LTBP3 | 591 |
| Oligodontia | 591 |
| NBN | 592 |
| Nijmegen breakage syndrome | 592 |
| Neutrophil immunodeficiency syndrome | 593 |
| RAC2 | 593 |
| CEBPE | 594 |
| Recurrent infection due to specific granule deficiency | 594 |
| Renal glucosuria | 595 |
| SLC5A2 | 595 |
| ABCC6 | 596 |
| Pseudoxanthoma elasticum | 596 |
| AHCY | 597 |
| Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency | 597 |
| Pulmonary alveolar microlithiasis | 598 |
| SLC34A2 | 598 |
| CTSK | 599 |
| Pycnodysostosis | 599 |
| PNP | 600 |
| Purine nucleoside phosphorylase deficiency | 600 |
| MYD88 | 601 |
| Pyogenic bacterial infections due to MyD88 deficiency | 601 |
| PSTPIP1 | 602 |
| Pyogenic arthritis - pyoderma gangrenosum - acne | 602 |
| PNPO | 603 |
| Pyridoxal phosphate-responsive seizures | 603 |
| ATP1A3 | 604 |
| Rapid-onset dystonia-parkinsonism | 604 |
| GRIK2 | 605 |
| Rare genetic intellectual deficiency without developmental anomaly | 605 |
| CFP | 606 |
| Properdin deficiency | 606 |
| PEPD | 607 |
| Prolidase deficiency | 607 |
| PROC | 608 |
| Protein C deficiency | 608 |
| ACOX1 | 609 |
| Pseudoadrenoleukodystrophy | 609 |
| Pontocerebellar hypoplasia | 610 |
| Pontocerebellar hypoplasia type 2 | 610 |
| Pontocerebellar hypoplasia type 4 | 610 |
| Pontocerebellar hypoplasia type 6 | 610 |
| RARS2 | 610 |
| TSEN2 | 610 |
| TSEN34 | 610 |
| TSEN54 | 610 |
| Pontocerebellar hypoplasia type 1 | 611 |
| VRK1 | 611 |
| HMBS | 612 |
| Porphyria, acute intermittent | 612 |
| Sudden infant death - dysgenesis of the testes | 613 |
| TSPYL1 | 613 |
| SI | 614 |
| Sucrase-isomaltase deficiency, congenital | 614 |
| FAM58A | 615 |
| Syndactyly - telecanthus - anogenital and renal malformations | 615 |
| LIFR | 616 |
| Stuve-Wiedemann dysplasia | 616 |
| OXCT1 | 617 |
| Succinyl-CoA acetoacetate transferase deficiency | 617 |
| Sorsby's fundus dystrophy | 618 |
| TIMP3 | 618 |
| IGHMBP2 | 619 |
| Spinal muscular atrophy with respiratory distress | 619 |
| DHCR7 | 620 |
| Smith-Lemli-Opitz syndrome | 620 |
| Skin peeling syndrome | 621 |
| TGM5 | 621 |
| SPINT2 | 622 |
| Sodium diarrhea, congenital | 622 |
| KCNJ13 | 623 |
| Snowflake vitreoretinal degeneration | 623 |
| ALDH3A2 | 624 |
| Sjoegren-Larsson syndrome | 624 |
| SECISBP2 | 625 |
| Short stature-delayed bone age due to thyroid hormone metabolism deficiency | 625 |
| LHX4 | 626 |
| Short stature - pituitary and cerebellar defects - small sella turcica | 626 |
| IGFALS | 627 |
| Short stature due to primary acid-labile subunit deficiency | 627 |
| FOXN1 | 628 |
| Severe T-cell immunodeficiency - congenital alopecia - nail dystrophy | 628 |
| JAK3 | 629 |
| Severe combined immunodeficiency T- B+ due to JAK3 deficiency | 629 |
| IL2RG | 630 |
| Severe combined immunodeficiency T- B+, X-linked | 630 |
| ADA | 631 |
| Severe combined immunodeficiency due to adenosine deaminase deficiency | 631 |
| Severe combined immunodeficiency due to ZAP70 deficiency | 632 |
| ZAP70 | 632 |
| SOST | 633 |
| Sclerosteosis | 633 |
| Seborrhea-like dermatitis with psoriasiform elements | 634 |
| ZNF750 | 634 |
| SLC35D1 | 635 |
| Schneckenbecken dysplasia | 635 |
| EMX2 | 636 |
| Schizencephaly | 636 |
| SMARCAL1 | 637 |
| Schimke immuno-osseous dysplasia | 637 |
| ACADS | 638 |
| SCAD deficiency | 638 |
| SARDH | 639 |
| Sarcosinemia | 639 |
| HEXB | 640 |
| Sandhoff disease | 640 |
| ESCO2 | 641 |
| Roberts syndrome/SC phocomelia | 641 |
| RS1 | 642 |
| Retinoschisis, X-linked | 642 |
| UBA1 | 643 |
| X-linked distal arthrogryposis multiplex congenita | 643 |
| GRIA3 | 644 |
| X-linked intellectual deficit | 644 |
| VMA21 | 645 |
| X-linked myopathy with excessive autophagy | 645 |
| EHHADH | 646 |
| Zellweger-like syndrome, without peroxisomal anomalies | 646 |
| ATP7B | 647 |
| Wilson disease | 647 |
| POU6F2 | 648 |
| Wilms tumor - radial bilateral aplasia | 648 |
| EIF2AK3 | 649 |
| Wolcott-Rallison syndrome | 649 |
| DCAF17 | 650 |
| Woodhouse-Sakati syndrome | 650 |
| CYP27A1 | 651 |
| Xanthomatosis cerebrotendinous | 651 |
| BTK | 652 |
| X-linked agammaglobulinemia | 652 |
| PRTN3 | 653 |
| Wegener granulomatosis | 653 |
| CXCR4 | 654 |
| WHIM syndrome | 654 |
| VCAN | 655 |
| Wagner disease | 655 |
| DLK1 | 656 |
| MEG3 | 656 |
| RTL1 | 656 |
| Uniparental disomy of maternal origin, chromosome 14 | 656 |
| Uniparental disomy of paternal origin, chromosome 14 | 656 |
| PLAGL1 | 657 |
| Uniparental disomy of paternal origin, chromosome 6 | 657 |
| FAH | 658 |
| Tyrosinemia type 1 | 658 |
| TAT | 659 |
| Tyrosinemia, type 2 | 659 |
| MMAA | 660 |
| Vitamin B12 responsive methylmalonic acidemia, type cbl A | 660 |
| MMAB | 661 |
| Vitamin B12 responsive methylmalonic acidemia, type cbl B | 661 |
| FMO3 | 662 |
| Trimethylaminuria | 662 |
| TPI1 | 663 |
| Triose phosphate-isomerase deficiency | 663 |
| TCOF1 | 664 |
| Treacher-Collins syndrome | 664 |
| SLC11A1 | 665 |
| Tuberculosis | 665 |
| CFB | 666 |
| Typical hemolytic uremic syndrome | 666 |
| SLC25A15 | 667 |
| Triple H (HHH) syndrome | 667 |
| NKX2-6 | 668 |
| Truncus arteriosus | 668 |
| OPN1SW | 669 |
| Tritanopia | 669 |
| PITX1 | 670 |
| Tibial hemimelia - clubfoot | 670 |
| TNFRSF1A | 671 |
| TRAPS syndrome | 671 |
| TCN2 | 672 |
| Transcobalamin II deficiency | 672 |
| SALL1 | 673 |
| Townes-Brocks syndrome | 673 |
| TALDO1 | 674 |
| Transaldolase deficiency | 674 |
| CLCN1 | 675 |
| Thomsen and Becker disease | 675 |
| TPMT | 676 |
| Thiopurine s-methyltranferase deficiency | 676 |
| SLC19A2 | 677 |
| Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness | 677 |
| THBD | 678 |
| Thrombomodulin anomalies, familial | 678 |
| 2,8 dihydroxyadenine urolithiasis | 679 |
| APRT | 679 |
| 3-hydroxy 3-methylglutaryl-CoA (HMG) synthase deficiency | 680 |
| HMGCS2 | 680 |
| 3-hydroxy-3-methylglutaric aciduria | 681 |
| HMGCL | 681 |
| 3-methylglutaconic aciduria, type 1 | 682 |
| AUH | 682 |
| 3-Phosphoglycerate dehydrogenase deficiency | 683 |
| Neurometabolic disorder due to serine deficiency | 683 |
| PHGDH | 683 |
| PSAT1 | 683 |
| PSPH | 683 |
| AMPD1 | 684 |
| AMPD3 | 684 |
| Adenosine monophosphate deaminase deficiency | 684 |
| Advanced sleep-phase syndrome, familial | 685 |
| CSNK1D | 685 |
| PER2 | 685 |
| Alport syndrome | 686 |
| COL4A3 | 686 |
| COL4A4 | 686 |
| COL4A5 | 686 |
| COL4A6 | 686 |
| Diffuse leiomyomatosis - Alport syndrome X-linked | 686 |
| Anemia due to pyrimidine 5' nucleotidase deficiency | 687 |
| NT5C | 687 |
| NT5C3 | 687 |
| ATP synthetase deficiency | 688 |
| ATPAF2 | 688 |
| TMEM70 | 688 |
| Berger disease | 689 |
| SELE | 689 |
| SELL | 689 |
| Bradyopsia | 690 |
| RGS9 | 690 |
| RGS9BP | 690 |
| Burkitt lymphoma | 691 |
| FCRL5 | 691 |
| MYC | 691 |
| COX6B1 | 692 |
| Cardiomyopathy - hypotonia, due to cytochrome c oxidase deficiency | 692 |
| MT-CO2 | 692 |
| CECR1 | 693 |
| CECR2 | 693 |
| Cat-eye syndrome | 693 |
| AGPS | 694 |
| Chondrodysplasia punctata, rhizomelic type | 694 |
| GNPAT | 694 |
| PEX7 | 694 |
| PHYH | 694 |
| Refsum disease | 694 |
| APOC3 | 695 |
| CETP | 695 |
| Cholesterol-ester transfer protein deficiency | 695 |
| Congenital fibrosis of extraocular muscles | 696 |
| KIF21A | 696 |
| PHOX2A | 696 |
| Congenital factor XIII deficiency | 697 |
| F13A1 | 697 |
| F13B | 697 |
| Combined T and B cell immunodeficiency | 698 |
| IL2 | 698 |
| IL2RA | 698 |
| Combined deficiency of factor V and factor VIII | 699 |
| LMAN1 | 699 |
| MCFD2 | 699 |
| Dandy-Walker malformation, isolated | 700 |
| ZIC1 | 700 |
| ZIC4 | 700 |
| CHN1 | 701 |
| CPA6 | 701 |
| Duane syndrome | 701 |
| DLEC1 | 702 |
| Esophageal carcinoma | 702 |
| WWOX | 702 |
| BCL2 | 703 |
| BCL6 | 703 |
| Follicular lymphoma | 703 |
| FRAS1 | 704 |
| FREM2 | 704 |
| Fraser syndrome | 704 |
| DUX4 | 705 |
| FRG1 | 705 |
| Facioscapulohumeral muscular myopathy | 705 |
| ETFA | 706 |
| ETFB | 706 |
| ETFDH | 706 |
| GCDH | 706 |
| Glutaryl-CoA dehydrogenase deficiency | 706 |
| Multiple FAD dehydrogenase deficiency | 706 |
| Glucocorticoid deficiency, familial | 707 |
| MC2R | 707 |
| MRAP | 707 |
| G6PC | 708 |
| Glycogen storage disease type 1 | 708 |
| SLC37A4 | 708 |
| AGXT | 709 |
| GRHPR | 709 |
| Hyperoxaluria | 709 |
| Hereditary renal hypouricemia | 710 |
| SLC22A12 | 710 |
| SLC2A9 | 710 |
| Herpetic encephalopathy | 711 |
| TLR3 | 711 |
| UNC93B1 | 711 |
| H6PD | 712 |
| HSD11B1 | 712 |
| Hyperandrogenism due to cortisone reductase deficiency | 712 |
| IL6 | 713 |
| Juvenile Idiopathic Arthritis | 713 |
| MIF | 713 |
| EPM2A | 714 |
| Lafora disease | 714 |
| NHLRC1 | 714 |
| LDHA | 715 |
| LDHB | 715 |
| Lactate dehydrogenase deficiency | 715 |
| MCEE | 716 |
| MUT | 716 |
| Methylmalonicaciduria, vitamin B12 unresponsive | 716 |
| Leukemia, megacaryoblastic, acute | 717 |
| MKL1 | 717 |
| RBM15 | 717 |
| CR1 | 718 |
| CTLA4 | 718 |
| Lupus erythematosus, systemic | 718 |
| Lutz-Lewandowsky epidermodysplasia verruciformis | 719 |
| TMC6 | 719 |
| TMC8 | 719 |
| AGPAT2 | 720 |
| Autosomal dominant spastic paraplegia, type 17 | 720 |
| BSCL2 | 720 |
| CAV1 | 720 |
| Lipodystrophy, Berardinelli type | 720 |
| Paraparesis amyotrophy of hands and feet | 720 |
| APPL2 | 721 |
| Monosomy 22q13 | 721 |
| SHANK3 | 721 |
| BTD | 722 |
| HLCS | 722 |
| Multiple carboxylase deficiency | 722 |
| CTNND2 | 723 |
| Monosomy 5p | 723 |
| SEMA5A | 723 |
| AMH | 724 |
| AMHR2 | 724 |
| Persistent Mullerian duct syndrome | 724 |
| PCK1 | 725 |
| PCK2 | 725 |
| Phosphoenolpyruvate carboxykinase (PEPCK) deficiency | 725 |
| GRK1 | 726 |
| Oguchi disease | 726 |
| SAG | 726 |
| NPC1 | 727 |
| NPC2 | 727 |
| Niemann-Pick disease, type C | 727 |
| LTA | 728 |
| Psoriatic arthritis, adult form | 728 |
| TNF | 728 |
| PCCA | 729 |
| PCCB | 729 |
| Propionic acidemia | 729 |
| PRKCSH | 730 |
| Polycystic liver disease | 730 |
| SEC63 | 730 |
| Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalopathy | 731 |
| TREM2 | 731 |
| TYROBP | 731 |
| Focal cortical dysplasia | 732 |
| Lymphangioleiomyomatosis | 732 |
| PKD1 | 732 |
| PKD2 | 732 |
| Polycystic kidney disease, autosomal dominant | 732 |
| Polycystic kidney disease, autosomal dominant, type 1, with tuberous sclerosis | 732 |
| TSC1 | 732 |
| TSC2 | 732 |
| Tuberous sclerosis | 732 |
| GM2A | 733 |
| HEXA | 733 |
| Tay-Sachs disease | 733 |
| ORAI1 | 734 |
| STIM1 | 734 |
| Severe combined immunodeficiency due to CRAC channel dysfunction | 734 |
| CREBBP | 735 |
| EP300 | 735 |
| Rubinstein-Taybi syndrome | 735 |
| SH2D1A | 736 |
| X-linked lymphoproliferative disease | 736 |
| XIAP | 736 |
| WHSC1 | 737 |
| WHSC2 | 737 |
| Wolf-Hirschhorn syndrome | 737 |
| KRT13 | 738 |
| KRT4 | 738 |
| White sponge nevus | 738 |
| FBXO11 | 739 |
| NLRP1 | 739 |
| Vitiligo | 739 |
| CSTB | 740 |
| PRICKLE1 | 740 |
| Unverricht-Lundborg disease | 740 |
| DRD3 | 741 |
| HS1BP3 | 741 |
| Tremor hereditary essential | 741 |
| IMMP2L | 742 |
| SLITRK1 | 742 |
| Tourette syndrome | 742 |
| 2-hydroxyglutaricaciduria | 743 |
| D2HGDH | 743 |
| L2HGDH | 743 |
| 3M syndrome | 744 |
| CUL7 | 744 |
| OBSL1 | 744 |
| 3-methylcrotonylglycinuria | 745 |
| MCCC1 | 745 |
| MCCC2 | 745 |
| AAAS | 746 |
| Achalasia-alacrimia syndrome | 746 |
| Triple A syndrome | 746 |
| Acrocephalosyndactyly | 747 |
| Carpenter syndrome | 747 |
| RAB23 | 747 |
| ATP2A2 | 748 |
| Acrokeratosis verruciformis of Hopf | 748 |
| Darier disease | 748 |
| Alpha-N-acetylgalactosaminidase deficiency, type 1 | 749 |
| N-acetyl-alpha-D-galactosaminidase deficiency | 749 |
| NAGA | 749 |
| Alpha-thalassemia | 750 |
| HBA1 | 750 |
| HBA2 | 750 |
| HBZ | 750 |
| Hemoglobin Constant Spring | 750 |
| Hemoglobin H disease | 750 |
| Hydrops fetalis of Barts | 750 |
| Alpha-1 antitrypsin deficiency | 751 |
| Hemorrhagic disease due to alpha-1 antitrypsin Pittsburg mutation | 751 |
| SERPINA1 | 751 |
| Amelia, autosomal recessive | 752 |
| Tetraamelia - pulmonary hypoplasia | 752 |
| WNT3 | 752 |
| AR | 753 |
| Androgen insensitivity syndrome | 753 |
| Kennedy disease | 753 |
| Anotia | 754 |
| Bilateral microtia - deafness - cleft palate | 754 |
| HOXA2 | 754 |
| Arthrogryposis, lethal - anterior horn cell disease | 755 |
| Contracture syndrome, lethal, congenital type 1 | 755 |
| GLE1 | 755 |
| Aromatase deficiency | 756 |
| Aromatase excess syndrome | 756 |
| CYP19A1 | 756 |
| Ataxia, episodic, type 1 | 757 |
| FXYD2 | 757 |
| Hereditary continuous muscle fiber activity | 757 |
| Isolated dominant hypomagnesemia | 757 |
| KCNA1 | 757 |
| Magnesium wasting, renal | 757 |
| Ataxia, cerebellar, autosomal dominant, type 3 | 758 |
| Ataxia, spinocerebellar, type 4 | 758 |
| PLEKHG4 | 758 |
| Ataxia, spinocerebellar, type 15 | 759 |
| Ataxia, spinocerebellar, type 16 | 759 |
| ITPR1 | 759 |
| Atrial myxoma, familial | 760 |
| Carney complex | 760 |
| MYH8 | 760 |
| PRKAR1A | 760 |
| Primary pigmented nodular adrenocortical disease | 760 |
| Trismus - pseudocamptodactyly | 760 |
| Athabaskan brainstem dysgenesis syndrome | 761 |
| Bosley-Salih-Alorainy syndrome | 761 |
| HOXA1 | 761 |
| Autosomal dominant limb-girdle muscular dystrophy, type 1A | 762 |
| MYOT | 762 |
| Myotilinopathy | 762 |
| BEST1 | 763 |
| Best disease | 763 |
| Retinopathy, Burgess-Black type | 763 |
| Biermer disease | 764 |
| GIF | 764 |
| Megaloblastic anemia due to inadequate secretion of intrinsic factor | 764 |
| Basal ganglia disease, biotin-responsive | 765 |
| SLC19A3 | 765 |
| Thiamine-responsive encephalopathy | 765 |
| Boichis disease | 766 |
| PKHD1 | 766 |
| Polycystic kidney disease, autosomal recessive | 766 |
| Birt-Hogg-Dube syndrome | 767 |
| FLCN | 767 |
| Spontaneous pneumothorax familial type | 767 |
| Blepharospasm | 768 |
| Cervical dystonia | 768 |
| DRD5 | 768 |
| CACH syndrome | 769 |
| Congenital or early infantile CACH syndrome | 769 |
| Cree leukoencephalopathy | 769 |
| EIF2B1 | 769 |
| EIF2B2 | 769 |
| EIF2B3 | 769 |
| EIF2B4 | 769 |
| EIF2B5 | 769 |
| Juvenile or adult CACH syndrome | 769 |
| Late infantile CACH syndrome | 769 |
| Ovarioleukodystrophy | 769 |
| ANKH | 770 |
| Chondrocalcinosis, familial articular | 770 |
| Craniometaphyseal dysplasia | 770 |
| Cholesteryl ester storage disease | 771 |
| LIPA | 771 |
| Wolman disease | 771 |
| Congenital factor V deficiency | 772 |
| F5 | 772 |
| Resistance to activated protein C | 772 |
| AFP | 773 |
| Congenital deficiency in alpha-fetoprotein | 773 |
| Hereditary persistence of alpha-fetoprotein | 773 |
| Combined pituitary hormone deficiencies, genetic forms | 774 |
| Intellectual deficit, X-linked, with isolated growth hormone deficiency | 774 |
| SOX3 | 774 |
| CYLD | 775 |
| Cylindromatosis, familial | 775 |
| Trichoepithelioma multiple, familial | 775 |
| Deafness - opticoacoustic nerve atrophy - dementia | 776 |
| Mohr-Tranebjaerg syndrome | 776 |
| TIMM8A | 776 |
| Dystonia, dopa-responsive | 777 |
| Dystonia, dopa-responsive, autosomal dominant | 777 |
| Dystonia, dopa-responsive, autosomal recessive | 777 |
| GCH1 | 777 |
| GTP cyclohydrolase I deficiency | 777 |
| TH | 777 |
| Dyssegmental dysplasia, Silverman-Handmaker type | 778 |
| HSPG2 | 778 |
| Schwartz-Jampel syndrome | 778 |
| Dyskinesia, paroxysmal exertion-induced | 779 |
| Encephalopathy due to GLUT1 deficiency | 779 |
| SLC2A1 | 779 |
| CDH3 | 780 |
| EEM syndrome | 780 |
| Macular degeneration, juvenile - hypotrichosis | 780 |
| BPGM | 781 |
| Diphosphoglycerate mutase deficiency of erythrocyte | 781 |
| Erythrocytosis | 781 |
| DCTN1 | 782 |
| Distal hereditary motor neuropathy, type 7 | 782 |
| Perry syndrome | 782 |
| DYM | 783 |
| Dyggve-Melchior-Clausen disease | 783 |
| Smith-McCort dysplasia | 783 |
| Distal myopathy, Nonaka type | 784 |
| GNE | 784 |
| Sialuria French type | 784 |
| Erythrokeratodermia, progressive symmetric | 785 |
| LOR | 785 |
| Vohwinkel syndrome - ichthyosis | 785 |
| Fish-eye disease | 786 |
| LCAT | 786 |
| LCAT deficiency | 786 |
| COL4A1 | 787 |
| Familial hematuria, autosomal dominant - retinal arteriolar tortuosity - contractures | 787 |
| Porencephaly | 787 |
| CLDN16 | 788 |
| Familial hypomagnesemia with hypercalciuria and nephrocalcinosis | 788 |
| Hypomagnesemia with normocalciuria | 788 |
| Familial dementia, British type | 789 |
| Familial dementia, Danish type | 789 |
| ITM2B | 789 |
| FH | 790 |
| Fumaric aciduria | 790 |
| Leiomyomatosis, familial | 790 |
| Fuhrmann syndrome | 791 |
| Phocomelia, Schinzel type | 791 |
| WNT7A | 791 |
| Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia | 792 |
| MYH2 | 792 |
| Sporadic inclusion body myositis | 792 |
| HOXA13 | 793 |
| Hand-foot-uterus syndrome | 793 |
| Preaxial deficiency - postaxial polydactyly - hypospadias | 793 |
| HPD | 794 |
| Hawkinsinuria | 794 |
| Tyrosinemia, type 3 | 794 |
| CTSC | 795 |
| Haim-Munk syndrome | 795 |
| Papillon-Lefevre syndrome | 795 |
| AASS | 796 |
| Hyperlysinemia | 796 |
| Saccharopinuria | 796 |
| Hyperimmunoglobinemia D with recurrent fever | 797 |
| MVK | 797 |
| Mevalonicaciduria | 797 |
| Hypoplasminogenemia | 798 |
| Ligneous conjunctivitis | 798 |
| PLG | 798 |
| ANTXR2 | 799 |
| Hyaline fibromatosis, juvenile | 799 |
| Hyalinosis, infantile systemic | 799 |
| ARHGEF9 | 800 |
| Hyperekplexia - epilepsy | 800 |
| X-linked neuromuscular intellectual deficit | 800 |
| Intellectual deficit, X-linked - monoamine oxidase A metabolism anomaly | 801 |
| MAOA | 801 |
| Monoamine oxidase-A deficiency | 801 |
| Mayer-Rokitansky-Kuester-Hauser syndrome | 802 |
| SERKAL syndrome | 802 |
| WNT4 | 802 |
| Lissencephaly syndrome, Norman-Roberts type | 803 |
| Microlissencephaly | 803 |
| RELN | 803 |
| Nephrotic syndrome, idiopathic, steroid-resistant, with diffuse mesangial sclerosis, familial form | 804 |
| Nephrotic syndrome, idiopathic, steroid-resistant, with focal segmental hyalinosis, familial form | 804 |
| PLCE1 | 804 |
| FGF3 | 805 |
| Microdontia - type I microtia - deafness | 805 |
| Otodental syndrome | 805 |
| FERMT1 | 806 |
| Poikiloderma of Kindler | 806 |
| Poikiloderma, hereditary acrokeratotic, Weary type | 806 |
| Oligomeganephronia | 807 |
| PAX2 | 807 |
| Papillo-renal syndrome | 807 |
| MMP2 | 808 |
| Nodulosis-arthropathy-osteolysis syndrome | 808 |
| Torg-Winchester syndrome | 808 |
| Renal tubular acidosis, proximal, pure, familial | 809 |
| Renal tubular acidosis, proximal, with ocular abnormalities and intellectual deficit | 809 |
| SLC4A4 | 809 |
| HOXA11 | 810 |
| Radio-ulnar synostosis | 810 |
| Radio-ulnar synostosis - amegakaryocytic thrombocytopenia | 810 |
| AIP | 811 |
| Prolactinoma, familial | 811 |
| Somatotroph adenoma | 811 |
| PROS1 | 812 |
| Protein S acquired deficiency | 812 |
| Protein S deficiency | 812 |
| CTGF | 813 |
| Scleroderma | 813 |
| Scleroderma, systemic | 813 |
| ADAMTS13 | 814 |
| Thrombotic thrombocytopenic purpura | 814 |
| Thrombotic thrombocytopenic purpura, congenital, due to ADAMTS-13 deficiency | 814 |
| 3-hydroxyacyl-CoA dehydrogenase, short chain, deficiency of | 815 |
| HSD17B10 | 815 |
| Intellectual deficit, X-linked - choreoathetosis - abnormal behavior | 815 |
| Acrofacial dysostosis, Weyers type | 816 |
| EVC | 816 |
| EVC2 | 816 |
| Ellis Van Creveld syndrome | 816 |
| Amegakaryocytic thrombocytopenia, congenital | 817 |
| MPL | 817 |
| THPO | 817 |
| Thrombocytosis, familial | 817 |
| Bicuspid aortic valve | 818 |
| Leukemia, T-cell prolymphocytic | 818 |
| MTCP1 | 818 |
| NOTCH1 | 818 |
| Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency | 819 |
| GGCX | 819 |
| VKORC1 | 819 |
| Vitamin K-dependent clotting factors, combined deficiency of | 819 |
| Cataract - intellectual deficit - hypogonadism | 820 |
| Micro syndrome | 820 |
| RAB3GAP1 | 820 |
| RAB3GAP2 | 820 |
| Hereditary sensory and autonomic neuropathy, type 4 | 821 |
| Hereditary sensory and autonomic neuropathy, type 5 | 821 |
| NGF | 821 |
| NTRK1 | 821 |
| ATR | 822 |
| Microcephalic osteodysplastic primordial short stature, type 2 | 822 |
| PCNT | 822 |
| Seckel syndrome | 822 |
| HIC1 | 823 |
| Lissencephaly due to LIS1 mutation | 823 |
| Miller-Dieker syndrome | 823 |
| PAFAH1B1 | 823 |
| LHB | 824 |
| LHCGR | 824 |
| Leydig cell hypoplasia | 824 |
| Testotoxicosis | 824 |
| ARSB | 825 |
| Mucopolysaccharidosis type 6 | 825 |
| Mucosulfatidosis | 825 |
| SUMF1 | 825 |
| Overhydrated hereditary stomatocytosis | 826 |
| RHAG | 826 |
| RHCE | 826 |
| Rh deficiency syndrome | 826 |
| FRMD7 | 827 |
| GPR143 | 827 |
| Nystagmus, idiopathic, congenital | 827 |
| Ocular albinism, X-linked recessive | 827 |
| CNBP | 828 |
| DMPK | 828 |
| Proximal myotonic myopathy | 828 |
| Steinert myotonic dystrophy | 828 |
| NEU1 | 829 |
| SLC44A4 | 829 |
| Sialidosis type 1 | 829 |
| Sialidosis, type 2 | 829 |
| 3-hydroxyacyl-CoA dehydrogenase, long chain, deficiency of | 830 |
| HADHA | 830 |
| HADHB | 830 |
| Mitochondrial trifunctional protein deficiency | 830 |
| 3-methylglutaconic aciduria, type 3 | 831 |
| OPA3 | 831 |
| Optic atrophy and cataract, autosomal dominant | 831 |
| ZFP90 | 831 |
