Orphan disease network

Orphan diseases network

2. Diseases network - All diseases, edge as shared gene

This table contains the exhaustive list of each orphan disease and the corresponding weakly connected component ID. You can explore any connected component by clicking on its ID, or start exploring by a specific node by clicking on its name.

Orphan diseases interactive list
Disease name Connected component ID
Abdominal aortic aneurysm, familial form0
Achondrogenesis, type 20
Acrocapitofemoral dysplasia0
Acromesomelic dysplasia, Grebe type0
Acromesomelic dysplasia, Hunter-Thomson type0
Acute inflammatory demyelinating polyradiculoneuropathy0
Adult-onset proximal spinal muscular atrophy, autosomal dominant0
Alagille syndrome0
Aland Island eye disease0
Alexander disease0
Alternating hemiplegia of childhood0
Alzheimer disease, familial0
Amish nemaline myopathy0
Amyloid nephropathy, familial0
Amyotrophic lateral sclerosis0
Anophthalmia - Microphthalmia, isolated0
Aortic aneurysm syndrome, Loeys-Dietz type0
Aphakia, primary, congenital0
Apolipoprotein A-I deficiency0
Arrhythmogenic right ventricular dysplasia0
Arthropathy progressive pseudorheumatoid of childhood0
Ataxia, familial paroxysmal0
Ataxia, spinocerebellar, autosomal dominant, type 70
Ataxia, spinocerebellar, type 10
Ataxia, spinocerebellar, type 120
Ataxia, spinocerebellar, type 140
Ataxia, spinocerebellar, type 170
Ataxia, spinocerebellar, type 20
Ataxia, spinocerebellar, type 270
Ataxia, spinocerebellar, type 30
Ataxia, spinocerebellar, type 50
Ataxia, spinocerebellar, type 60
Ataxia, spinocerebellar, type 80
Atelosteogenesis I0
Atelosteogenesis, type II0
Atelosteogenesis, type III0
Atrial cardiomyopathy with heart block0
Atrial fibrillation, familial0
Atrial septal defect - atrioventricular conduction defects0
Atrioventricular canal, complete0
Atrioventricular canal, partial0
Autosomal dominant Charcot-Marie-Tooth disease, type 20
Autosomal dominant Charcot-Marie-Tooth disease, type 2A10
Autosomal dominant Charcot-Marie-Tooth disease, type 2A20
Autosomal dominant Charcot-Marie-Tooth disease, type 2B0
Autosomal dominant Charcot-Marie-Tooth disease, type 2D0
Autosomal dominant Charcot-Marie-Tooth disease, type 2E0
Autosomal dominant Charcot-Marie-Tooth disease, type 2F0
Autosomal dominant Charcot-Marie-Tooth disease, type 2I0
Autosomal dominant Charcot-Marie-Tooth disease, type 2J0
Autosomal dominant Charcot-Marie-Tooth disease, type 2K0
Autosomal dominant Charcot-Marie-Tooth disease, type 2L0
Autosomal dominant centronuclear myopathy0
Autosomal dominant cerebellar ataxia0
Autosomal dominant intermediate Charcot-Marie-Tooth disease0
Autosomal dominant intermediate Charcot-Marie-Tooth disease, type B0
Autosomal dominant intermediate Charcot-Marie-Tooth disease, type C0
Autosomal dominant intermediate Charcot-Marie-Tooth disease, type D0
Autosomal dominant limb-girdle muscular dystrophy, type 1B0
Autosomal dominant limb-girdle muscular dystrophy, type 1C0
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness0
Autosomal recessive Charcot-Marie-Tooth disease, type 20
Autosomal recessive centronuclear myopathy0
Autosomal recessive cerebellar ataxia0
Autosomal recessive limb-girdle muscular dystrophy, type 2G0
Autosomal recessive limb-girdle muscular dystrophy, type 2H0
Autosomal recessive limb-girdle muscular dystrophy, type 2I0
Autosomal recessive limb-girdle muscular dystrophy, type 2J0
Autosomal recessive limb-girdle muscular dystrophy, type 2K0
Autosomal recessive multiple pterygium syndrome0
Avascular necrosis of femoral head, familial form0
Bardet-Biedl syndrome0
Barth syndrome0
Bartter syndrome0
Bartter syndrome, ''classical'' form0
Bartter syndrome, antenatal form0
Benign familial infantile seizures0
Benign familial neonatal seizures0
Benign familial neonatal-infantile seizures0
Benign paroxysmal torticollis of infancy0
Bjoernstad syndrome0
Boomerang dysplasia0
Bothnia retinal dystrophy0
Brachydactyly, type A10
Brachydactyly, type A20
Brachydactyly, type B0
Brachydactyly, type B20
Brachydactyly, type C0
Brachydactyly, type D0
Brachydactyly, type E0
Brachydactyly-syndactyly, Zhao type0
Brugada syndrome0
Butterfly-shaped pigment dystrophy0
CARASIL syndrome0
Caffey disease0
Cap myopathy0
Cardiac conduction defect, familial0
Cardiodysrythmic potassium-sensitive periodic paralysis0
Cardiomyopathy, dilated, with conduction defect0
Cardiomyopathy, familial dilated0
Cardiomyopathy, familial, hypertrophic0
Cardiomyopathy, hypertrophic, primary or idiopathic0
Cataract with Y-shaped suture opacities0
Cataract, Coppock-like0
Cataract, cerulean0
Cataract, congenital, partial0
Cataract, nuclear0
Cataract, posterior polar0
Cataract, pulverulent0
Cataract, zonular0
Catecholinergic polymorphic ventricular tachycardia0
Central core disease0
Centronuclear myopathy0
Cerebral hemorrhage with amyloidosis, hereditary0
Charcot-Marie-Tooth disease, type 10
Charcot-Marie-Tooth disease, type 1A0
Charcot-Marie-Tooth disease, type 1B0
Charcot-Marie-Tooth disease, type 1C0
Charcot-Marie-Tooth disease, type 1D0
Charcot-Marie-Tooth disease, type 1E0
Charcot-Marie-Tooth disease, type 1F0
Charcot-Marie-Tooth disease, type 2B10
Charcot-Marie-Tooth disease, type 2H0
Charcot-Marie-Tooth disease, type 4A0
Charcot-Marie-Tooth disease, type 4E0
Charcot-Marie-Tooth disease, type 4F0
Charcot-Marie-Tooth disease, type 4J0
Choroidal dystrophy, central areolar0
Chronic inflammatory demyelinating polyneuropathy0
Chronic myeloid leukemia0
Classic Ehlers-Danlos syndrome0
Clouston syndrome0
Coenzyme Q cytochrome c reductase deficiency0
Colon cancer, familial nonpolyposis0
Cone rod dystrophy0
Congenital fiber-type disproportion myopathy0
Congenital fibrinogen deficiency0
Congenital multicore myopathy with external ophthalmoplegia0
Congenital muscular dystrophy, type 1C0
Congenital muscular dystrophy, type 1D0
Congenital myasthenic syndromes0
Conotruncal heart malformations0
Cutis laxa0
Cutis laxa, X-linked0
Cutis laxa, dominant type0
Cutis laxa, recessive type 10
Cutis laxa, recessive type 20
Czech dysplasia, metatarsal type0
Deafness, autosomal dominant, nonsyndromic, sensorineural, type DFNA0
Deafness, autosomal recessive, nonsyndromic, sensorineural, type DFNB0
Deafness-infertility syndrome0
Dejerine-Sottas syndrome0
Dermatofibrosarcoma protuberans0
Dermatopathia pigmentosa reticularis0
Dermopathy restrictive, lethal0
Desmin-related myopathy with Mallory body-like inclusions0
Developmental delay - deafness, Hildebrand type0
Diastrophic dwarfism0
Digitotalar dysmorphism0
Distal hereditary motor neuropathy0
Distal hereditary motor neuropathy, type 10
Distal hereditary motor neuropathy, type 20
Distal hereditary motor neuropathy, type 3 and type 40
Distal hereditary motor neuropathy, type 50
Distal monosomy 1p360
Dorfman-Chanarin disease0
Double outlet right ventricle0
Dowling-Degos disease0
Dravet syndrome0
Duchenne and Becker muscular dystrophy0
Dysplasia, mandibuloacral0
Dysplasia, mandibuloacral with type A lipodystrophia0
Dysplasia, mandibuloacral with type B lipodystrophy0
Ectopia lentis isolated0
Ehlers-Danlos syndrome, type 10
Ehlers-Danlos syndrome, type 20
Ehlers-Danlos syndrome, type 30
Ehlers-Danlos syndrome, type 40
Ehlers-Danlos syndrome, type 70
Emery-Dreifuss muscular dystrophy0
Epidermolysis bullosa simplex - limb girdle muscular dystrophy0
Epidermolysis bullosa simplex - pyloric atresia0
Epidermolysis bullosa simplex superficialis0
Epidermolysis bullosa simplex with migratory circinate erythema0
Epidermolysis bullosa simplex with mottled pigmentation0
Epidermolysis bullosa simplex, Dowling-Meara type0
Epidermolysis bullosa simplex, Koebner type0
Epidermolysis bullosa simplex, Ogna type0
Epidermolysis bullosa simplex, Weber-Cockayne type0
Epidermolysis bullosa simplex, autosomal recessive0
Epidermolysis bullosa, acantholytic, lethal0
Epidermolysis bullosa, dystrophic0
Epidermolysis bullosa, dystrophic, autosomal dominant0
Epidermolysis bullosa, dystrophic, autosomal recessive, Hallopeau-Siemens type0
Epidermolysis bullosa, dystrophic, autosomal recessive, non-Hallopeau-Siemens type0
Epidermolysis bullosa, dystrophic, centripetal0
Epidermolysis bullosa, dystrophic, inversa0
Epidermolysis bullosa, dystrophic, nails only0
Epidermolysis bullosa, dystrophic, pretibial0
Epidermolysis bullosa, dystrophic, pruriginous0
Epidermolysis bullosa, epidermolytic0
Epidermolysis bullosa, generalized atrophic benign0
Epidermolysis bullosa, junctional0
Epidermolysis bullosa, junctional - pyloric atresia0
Epidermolysis bullosa, junctional, Herlitz type0
Epidermolysis bullosa, junctional, non-Herlitz type0
Epilepsy, childhood absence0
Epilepsy, female restricted, with intellectual deficit0
Epiphyseal dysplasia multiple0
Epstein syndrome0
Erythroderma, congenital ichthyosiform, bullous0
Erythroderma, congenital ichthyosiform, nonbullous0
Erythrokeratodermia variabilis, Mendes da Costa type0
Escobar syndrome0
Familial afibrinogenemia0
Familial amyloid polyneuropathy0
Familial amyloidosis, Finnish type0
Familial aortic dissection0
Familial dysfibrinogenemia0
Familial hypofibrinogenemia0
Familial platelet syndrome with predisposition to acute myelogenous leukemia0
Familial spastic paraplegia0
Fatal infantile cytochrome C oxidase deficiency0
Fechtner syndrome0
Fetal akinesia sequence0
Fibular aplasia - complex brachydactyly0
Foveomacular vitelliform dystrophy, adult-onset0
Freeman-Sheldon syndrome0
Fronto-temporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)0
Frontotemporal dementia0
Frontotemporal dementia with motor neuron-disease type inclusions0
Furlong syndrome0
GRACILE syndrome0
Generalized epilepsy with febrile seizures-plus context0
Genetic recurrent myoglobinuria0
Geroderma osteodysplastica0
Gitelman syndrome0
Goldmann-Favre syndrome0
Greither's disease0
Guillain-Barre syndrome0
Gusher syndrome0
Heart-hand syndrome, Slovenian type0
Hemiplegic migraine, familial or sporadic0
Hereditary motor and sensory neuropathy, type 60
Hereditary myopathy with early respiratory failure0
Hereditary neuropathy with liability to pressure palsies0
Hereditary nonsyndromic deafness with susceptibility to aminoglycoside exposure0
Histiocytoid cardiomyopathy0
Histiocytosis, sea-blue0
Humerospinal dysostosis0
Hyaline body myopathy0
Hyperkalemic periodic paralysis0
Hyperlipidemia type 30
Hypogonadism - retinitis pigmentosa0
Hypokalemic periodic paralysis0
Hypoplastic left heart syndrome0
Hypospadias, familial0
Ichthyosis congenita, harlequin type0
Ichthyosis hystrix0
Ichthyosis hystrix, Curth-Macklin type0
Ichthyosis, lamellar0
Immotile cilia syndrome, Kartagener type0
Infantile Bartter syndrome with deafness0
Intellectual deficit - epilepsy, X-linked0
Interauricular communication0
Intermediate nemaline myopathy0
Jervell and Lange-Nielsen syndrome0
Joubert syndrome0
Juvenile myoclonic epilepsy0
KID syndrome0
Kearns-Sayre syndrome0
Keratoderma hereditarium mutilans0
Keratoderma palmoplantar - deafness0
Keratosis palmoplantaris striata0
King-Denborough syndrome0
Kniest dysplasia0
Knuckle pods - leuconychia - sensorineural deafness0
Kousseff syndrome0
LOGIC syndrome0
Laing distal myopathy0
Laminopathy, type Decaudain-Vigouroux0
Larsen syndrome0
Laurence-Moon syndrome0
Leber amaurosis, congenital0
Leber hereditary optic neuropathy0
Left ventricular noncompaction0
Legg-Calve-Perthes disease0
Leigh syndrome0
Leukemia, myeloid, acute0
Leukemia, myeloid, acute, with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)0
Lipoamide dehydrogenase deficiency0
Lipodystrophy, familial partial, Dunnigan type0
Long QT syndrome, familial0
MASS syndrome0
MELAS syndrome0
MORM syndrome0
Macular degeneration, age-related0
Malignant hyperthermia0
Marfan syndrome0
Marshall syndrome0
May-Hegglin thrombocytopenia0
McKusick-Kaufman, syndrome0
Meckel syndrome0
Medullary cystic kidney disease, autosomal recessive0
Medullary cystic kidney disease, autosomal recessive, juvenile0
Meniere disease0
Menkes disease0
Metaphyseal anadysplasia0
Microphthalmia - cataract0
Mild nemaline myopathy0
Mitochondrial myopathy - lactic acidosis0
Monosomy 22q110
Moyamoya disease0
Muir-Torre syndrome0
Multiminicore myopathy0
Multiple epiphyseal dysplasia due to collagen 9 anomaly0
Multiple epiphyseal dysplasia, Beighton type0
Multiple epiphyseal dysplasia, type 10
Multiple epiphyseal dysplasia, type 40
Multiple epiphyseal dysplasia, type 50
Multiple pterygium syndrome, lethal form0
Multiple synostoses0
Muscle eye brain disease0
Muscular dystrophy, Becker type0
Muscular dystrophy, Duchenne type0
Muscular dystrophy, Fukuyama type0
Muscular dystrophy, limb-girdle, autosomal recessive, type 2F0
Myeloma, multiple0
Myotonia congenita acetazolamide responsive0
Myotonia fluctuans0
Myotonia permanens0
Myxoid liposarcoma0
NADH-CoQ reductase deficiency0
NARP/MILS syndrome0
Naegeli-Franceschetti-Jadassohn syndrome0
Nance-Horan syndrome0
Naxos disease0
Nemaline myopathy0
Neuropathy with hearing impairment0
Neutral lipid storage disease0
Neutral lipid storage myopathy0
Night blindness, stationary, congenital0
Non-syndromic congenital cataract0
Nonsyndromic genetic deafness0
Occipital horn syndrome0
Ocular anterior segment mesenchymal dysgenesis, familial0
Oculodentodigital dysplasia0
Oral-facial-digital syndrome, type 10
Osteogenesis imperfecta0
Otospondylomegaepiphyseal dysplasia0
Pachyonychia congenita0
Paramyotonia congenita of Von Eulenburg0
Parkinson disease, genetic type0
Parkinson's disease dementia, familial0
Pendred syndrome0
Pick disease of brain0
Pierson syndrome0
Platyspondylic dysplasia, Torrance type0
Postsynaptic congenital myasthenic syndromes0
Potassium aggravated myotonia0
Presynaptic congenital myasthenic syndromes0
Primary ciliary dyskinesia0
Primary lateral sclerosis0
Progeroid syndrome, De Barsy type0
Progressive cone dystrophy0
Pyruvate carboxylase deficiency0
Pyruvate dehydrogenase deficiency0
Reducing body myopathy0
Restrictive cardiomyopathy, idiopathic or familial0
Retinal degeneration, late-onset0
Retinal dystrophy, genetic0
Retinitis pigmentosa0
Retinitis punctata albescens0
Rigid spine syndrome0
Rippling muscle disease0
Robinow syndrome0
Romano-Ward long QT syndrome0
Roussy-Levy syndrome0
Scapuloperoneal amyotrophy0
SeSAME syndrome0
Sebastian syndrome0
Senior-Loken syndrome0
Severe congenital nemaline myopathy0
Severe dilated cardiomyopathy due to lamin A/C mutation0
Sheldon-Hall syndrome0
Short QT syndrome, familial0
Shprintzen-Goldberg syndrome0
Sick sinus syndrome0
Situs ambiguus0
Spinocerebellar ataxia with axonal neuropathy, type 20
Spondyloepimetaphyseal dysplasia0
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification0
Spondyloepimetaphyseal dysplasia congenita, Strudwick type0
Spondyloepimetaphyseal dysplasia, Missouri type0
Spondyloepimetaphyseal dysplasia, aggrecan type0
Spondyloepimetaphyseal dysplasia, matrilin-3 type0
Spondyloepiphyseal dysplasia0
Spondyloepiphyseal dysplasia due to COL2A1 mutation, mild, with early-onset osteoarthritis0
Spondyloepiphyseal dysplasia tarda0
Spondyloepiphyseal dysplasia, Kimberley type0
Spondyloepiphyseal dysplasia, Omani type0
Spondyloepiphyseal dysplasia, Pakistani type0
Spondyloepiphyseal dysplasia, congenital type0
Spondylometaphyseal dysplasia0
Spondylometaphyseal dysplasia, 'corner fracture' type0
Spondyloperipheral dysplasia - short ulna0
Stapes ankylosis with broad thumbs and toes0
Stargardt disease0
Steatocystoma multiplex0
Stickler syndrome0
Stickler syndrome, type 10
Stickler syndrome, type 30
Striatonigral degeneration, infantile0
Succinate CoQ reductase deficiency0
Supranuclear palsy, progressive0
Supravalvar aortic stenosis0
Symphalangism, proximal0
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers0
Synaptic congenital myasthenic syndromes0
Syndactyly, type 20
Syndactyly, type 30
Syndactyly, type 50
Syndromic microphthalmia due to OTX2 mutation0
Tangier disease0
Tarsal-carpal coalition syndrome0
Tetralogy of Fallot0
Thoracic aortic aneurysm, familial form0
Thost-Unna palmoplantar keratoderma0
Thyrotoxic periodic paralysis0
Tibial muscular dystrophy0
Timothy syndrome0
Transient bullous dermolysis of the newborn0
Transposition of the great arteries0
Transposition of the great arteries, right0
Transthyretin-related familial amyloid cardiomyopathy0
Typical nemaline myopathy0
Usher syndrome0
VATER association0
Walker-Warburg syndrome0
Weill-Marchesani syndrome0
Weissenbacher- Zweymuller syndrome0
Werner syndrome0
Williams syndrome0
Wolff-Parkinson-White syndrome0
Wolfram syndrome0
Woolly hair - palmoplantar keratoderma - dilated cardiomyopathy0
Wrinkly skin syndrome0
X-linked Charcot-Marie-Tooth disease, type 30
X-linked centronuclear myopathy0
X-linked myopathy with postural muscle atrophy0
ZASP-related myofibrillar myopathy0
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency1
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency1
ABCD syndrome1
Acrocallosal syndrome, Schinzel type1
Albinism ocular - late onset sensorineural deafness1
Anaplastic large cell lymphoma1
Bannayan-Riley-Ruvalcaba syndrome1
Breast cancer, familial1
Cardiofaciocutaneous syndrome1
Carney-Stratakis syndrome1
Colobomatous microphthalmia1
Congenital adrenal hyperplasia1
Conn's syndrome1
Corpus callosum dysgenesis, X-linked recessive1
Corticosterone methyl-oxydase deficiency, type I (CMO I)1
Corticosterone methyl-oxydase deficiency, type II (CMO II)1
Cowden syndrome1
Deaf blind hypopigmentation syndrome, Yemenite type1
Denys-Drash syndrome1
Desmoplastic small round cell tumor1
Endocrine tumor1
Ewing sarcoma1
Fanconi anemia1
Foveal hypoplasia - presenile cataract1
Frasier syndrome1
Gastrointestinal stromal tumor1
Gingival fibromatosis, dominant1
Glaucoma, congenital1
Glaucoma, hereditary1
Glaucoma, juvenile1
Gorlin syndrome1
Greig syndrome1
Hereditary pheochromocytoma-paraganglioma syndrome1
Hirschsprung disease1
Holoprosencephaly deletion 2p1
Hydrocephalus due to stenosis of aqueduct of Sylvius1
Hyperaldosteronism, familial, type 11
Hyperaldosteronism, familial, type 21
Hypereosinophilic syndromes1
Hypoaldosteronism, familial1
Idiopathic and/or familial pulmonary arterial hypertension1
Juvenile gastrointestinal polyposis1
Juvenile polyposis of infancy1
Keratitis, hereditary1
LEOPARD syndrome1
Leukemia of ambiguous lineage, acute1
Leukemia, lymphoblastic, acute1
Lhermitte-Duclos disease1
Li-Fraumeni syndrome1
MASA syndrome1
Mast cell leukemia1
Mastocytosis, aggressive systemic1
Mastocytosis, indolent systemic1
Mastocytosis, systemic1
Mastocytosis, systemic, with an associated clonal hematologic non-mast cell c lineage disease1
Meacham syndrome1
Melanoma of soft part1
Melanoma, familial1
Melanoma-pancreatic cancer, syndrome1
Mesangial sclerosis, diffuse1
Microcephaly, isolated congenital1
Mixed polyposis syndrome, hereditary1
Mullerian aplasia1
Multiple endocrine neoplasia, type 21
Myeloid neoplasm associated with PDGFRA rearrangement1
Nephrotic syndrome, idiopathic, steroid-resistant, familial1
Nephrotic syndrome, idiopathic, steroid-resistant, sporadic1
Nephrotic syndrome, idiopathic, steroid-resistant, with diffuse mesangial sclerosis, sporadic1
Neurofibromatosis type 21
Neurofibromatosis, type 31
Noonan syndrome1
Noonan-like syndrome1
Ocular coloboma1
Oculo-digito-esophageal-duodenal syndrome (ODED)1
Oculocutaneous albinism1
Oculocutaneous albinism type 4, OCA-41
Ondine syndrome1
Pallister-Hall syndrome1
Pancreatic carcinoma, familial1
Papilloma of choroid plexus1
Paris-Trousseau thrombocytopenia1
Peters anomaly1
Pheochromocytoma and secreting paraganglioma1
Pitt-Hopkins syndrome1
Polydactyly of a triphalangeal thumb (PPD2)1
Polydactyly postaxial1
Polydactyly postaxial, type A1
Polydactyly postaxial, type B1
Polydactyly, preaxial1
Polysyndactyly (PPD4)1
Prader-Willi syndrome1
Premature chromosome condensation with microcephaly and intellectual deficit1
Primary familial polycythemia1
Prostate cancer, familial1
Proteus syndrome1
Proteus-like syndrome - intellectual deficit - eye defects1
Pulmonary venoocclusive disease1
Renal cell carcinoma, familial1
Renal dysplasia1
Renal dysplasia, bilateral1
Renal dysplasia, unilateral1
Renal-diabetes MODY5 syndrome1
Rendu-Osler-Weber disease1
Rhabdoid tumor1
Rieger syndrome1
Rieger-Axenfeld anomaly1
Ring dermoid of cornea1
Simpson-Golabi-Behmel syndrome1
Solitary median maxillary central incisor syndrome1
Squamous cell carcinoma of head and neck1
Stein-Leventhal syndrome1
Thyroid carcinoma, medullary1
Thyroid carcinoma, papillary or follicular1
Tietz syndrome1
Triphalangeal thumb-polysyndactyly syndrome1
Triphalangeal thumbs - duplication of the big toes, familial1
VACTERL with hydrocephalus1
Von Hippel-Lindau disease1
WAGR syndrome1
Waardenburg syndrome1
Waardenburg syndrome type 21
Waardenburg-Shah syndrome1
Waardenburg-Shah syndrome, neurologic variant1
Adrenoleukodystrophy, neonatal2
Bifunctional enzyme deficiency2
Pseudo-Zellweger syndrome2
Refsum disease, infantile form2
Zellweger syndrome2
Congenital neuronal ceroid lipofuscinosis3
Infantile neuronal ceroid lipofuscinosis3
Juvenile neuronal ceroid lipofuscinosis3
Late infantile neuronal ceroid lipofuscinosis3
Neuronal ceroid lipofuscinosis3
Progressive epilepsy-intellectual deficit, Finnish type3
Antley-Bixler syndrome4
Antley-Bixler-like syndrome - ambiguous genitalia - disordered steroidogenesis4
Apert syndrome4
CHARGE syndrome4
Camptodactyly - tall stature - scoliosis - hearing loss4
Crouzon disease4
Crouzon syndrome - acanthosis nigricans4
Cutis gyrata - acanthosis nigricans - craniosynostosis4
Eunuchoidism familial4
Familial scaphocephaly syndrome, McGillivray type4
Isolated brachycephaly4
Isolated cloverleaf skull syndrome4
Isolated craniosynostosis4
Isolated plagiocephaly4
Isolated scaphocephaly4
Isolated trigonocephaly4
Jackson-Weiss syndrome4
Kallmann syndrome4
Kallmann syndrome - heart disease4
Lacrimo-auriculo-dento-digital syndrome4
Muenke syndrome4
Myeloid neoplasm associated with FGFR1 rearrangement4
Normosmic congenital hypogonadotropic hypogonadism4
Osteoglophonic dwarfism4
Pfeiffer syndrome4
Pfeiffer syndrome, type 14
Pfeiffer syndrome, type 24
Saethre-Chotzen syndrome4
Severe achondroplasia - developmental delay - acanthosis nigricans4
Thanatophoric dwarfism4
Thanatophoric dwarfism, type I4
Thanatophoric dwarfism, type II4
CACH syndrome5
Congenital or early infantile CACH syndrome5
Cree leukoencephalopathy5
Juvenile or adult CACH syndrome5
Late infantile CACH syndrome5
Crigler-Najjar syndrome6
Gilbert syndrome6
Hyperbilirubinemia transient familial neonatal6
COFS syndrome7
Cockayne syndrome7
De Sanctis-Cacchione syndrome7
IBIDS syndrome7
PIBIDS syndrome7
UV-sensitive syndrome7
Xeroderma pigmentosum7
Bethlem myopathy8
Congenital muscular dystrophy, Ullrich type8
Amelogenesis imperfecta9
Amelogenesis imperfecta, hypocalcified type9
Amelogenesis imperfecta, hypomaturation type9
Amelogenesis imperfecta, hypomaturation-hypoplastic with taurodontism9
Amelogenesis imperfecta, hypoplastic type9
Tricho-dento-osseous syndrome9
Alveolar rhabdomyosarcoma10
Craniofacial-deafness-hand syndrome10
Waardenburg syndrome type 110
Waardenburg syndrome type 310
Hemoglobin Constant Spring11
Hemoglobin H disease11
Hydrops fetalis of Barts11
Agammaglobulinemia, alymphocytotic type12
LIG4 syndrome12
Omenn syndrome12
Primary immunodeficiency with skin granulomas12
3-hydroxylacyl-CoA dehydrogenase deficiency13
DEND syndrome13
Diabetes mellitus, neonatal13
Diabetes mellitus, neonatal, permanent13
Diabetes mellitus, neonatal, transient13
Diabetes mellitus, permanent neonatal - pancreatic and cerebellar agenesis13
Diffuse hyperinsulinism, diazoxide-resistant13
Diffuse hyperinsulinism, diazoxide-sensitive13
Hyperinsulinism due to focal adenomatous hyperplasia13
Hyperinsulinism, exercise-induced13
Insulin-resistance syndrome, type A13
MODY syndrome13
Metabolic myopathy due to lactate transporter defect13
Partial pancreas agenesis13
Persistent hyperinsulinemic hypoglycemia of infancy13
Rabson-Mendenhall syndrome13
Myelodysplastic syndromes14
Refractory anemia with excess blasts14
Hypotrichosis simplex15
Woolly hair15
Neurogenic arthrogryposis multiplex congenita16
Proximal spinal muscular atrophy16
Proximal spinal muscular atrophy, type 116
Proximal spinal muscular atrophy, type 216
Proximal spinal muscular atrophy, type 316
Proximal spinal muscular atrophy, type 416
Spinal muscular atrophy - arthrogryposis16
Hemochromatosis, adult form17
Hemochromatosis, juvenile form17
Iron deficiency anemia17
Porphyria cutanea tarda17
Porphyria, Variegata17
Porphyria, acute hepatic17
Porphyria, congenital erythropoietic17
Protoporphyria, erythropoietic17
Sideroblastic anemia17
Sideroblastic anemia, X-linked17
Hyperlipoproteinemia type 118
Hyperlipoproteinemia, type 418
Hyperlipoproteinemia, type 518
Major hypertriglyceridemia18
Glycogen storage disease due to liver phosphorylase deficiency19
Glycogen storage disease due to phosphorylase kinase deficiency19
Glycogen storage disease, type 919
Muscular phosphorylase kinase deficiency19
Generalized pseudohypoaldosteronism type 120
Hypertension due to gain-of-function mutations in the mineralocorticoid receptor20
Liddle syndrome20
Pseudohypoaldosteronism, type 120
Renal pseudohypoaldosteronism type 120
Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis21
Atypical Rett syndrome21
Coffin-Lowry syndrome21
Distal monosomy 3p21
FG syndrome21
FG syndrome, type 121
Frontometaphyseal dysplasia21
Intellectual deficit, X-linked - marfanoid habitus21
Intellectual deficit, X-linked - psychosis - macroorchidism21
Intestinal pseudoobstruction, chronic, idiopathic21
Lissencephaly, X-linked - agenesis of the corpus callosum - genital anomalies21
Micrencephaly - corpus callosum agenesis - abnormal genitalia21
Nodular neuronal heterotopia21
Osteodysplasty, Melnick-Needles type21
Otopalatodigital syndrome21
Otopalatodigital syndrome, type 121
Otopalatodigital syndrome, type 221
Partington syndrome21
Periventricular nodular heterotopia21
Rare intellectual deficit without developmental anomaly21
Rett syndrome21
Spasticity - intellectual deficit - epilepsy, X-linked21
Trisomy Xq2821
West syndrome21
Focal cortical dysplasia22
Polycystic kidney disease, autosomal dominant22
Polycystic kidney disease, autosomal dominant, type 1, with tuberous sclerosis22
Tuberous sclerosis22
3-methylglutaconic aciduria, type 323
Optic atrophy and cataract, autosomal dominant23
3-hydroxyacyl-CoA dehydrogenase, long chain, deficiency of24
Mitochondrial trifunctional protein deficiency24
3-hydroxyacyl-CoA dehydrogenase, short chain, deficiency of25
Intellectual deficit, X-linked - choreoathetosis - abnormal behavior25
Sialidosis type 126
Sialidosis, type 226
Crohn disease27
Granulomatous arthritis of childhood27
Ulcerative colitis27
Camurati-Engelmann disease28
Corneal dystrophy28
Corneal dystrophy - perceptive deafness28
Corneal dystrophy, Avellino type28
Corneal dystrophy, Groenouw type28
Corneal dystrophy, Reis-Buckler type28
Corneal dystrophy, endothelial fuchs type28
Corneal dystrophy, gelatinous drop-like28
Corneal dystrophy, juvenile epithelial, of Meesmann28
Corneal dystrophy, lattice, type I28
Corneal dystrophy, lattice, type IIIa28
Corneal flecked dystrophy, Francois-Neetens type28
Endothelial dystrophy, congenital, hereditary28
Keratoconus, isolated28
Familial Parathyroid adenoma29
Hyperparathyroidism - jaw tumor syndrome (HPT-JT)29
Hyperparathyroidism, familial, isolated (FIHPT)29
Hyperparathyroidism, primary, familial29
Multiple endocrine neoplasia type 129
Parathyroid carcinoma29
Zollinger-Ellison syndrome29
Encephalopathy due to sulfite oxidase deficiency30
Hyperekplexia, hereditary30
Acute Respiratory Distress Syndrome, adult31
Acute respiratory distress syndrome, Infant31
Chronic pneumonitis of infancy31
Dyskeratosis congenita31
Familial hemophagocytic lymphohistiocytosis31
Idiopathic aplastic anemia31
Progressive pancytopenia - immunodeficiency - cerebellar hypoplasia31
Pulmonary alveolar proteinosis31
Pulmonary fibrosis, idiopathic31
Pulmonary surfactant protein anomalies31
Respiratory bronchiolitis - interstitial lung disease31
Retinopathy - anemia- central nervous system anomalies31
Shwachman-Diamond syndrome31
Alveolar soft-part sarcoma32
Asperger syndrome32
Desmoid disease32
Familial adenomatous polyposis32
Gardner syndrome32
Gastric cancer, familial32
Gastric linitis plastica32
Hepatocellular carcinoma, childhood-onset32
Renal cell carcinoma, papillary, familial32
Turcot syndrome with polyposis32
Defective apolipoprotein B-100, familial33
Hypercholesterolemia, familial33
Achalasia-alacrimia syndrome34
Triple A syndrome34
46,XX testicular disorder of sex development35
46,XY disorder of sex development - adrenal insufficiency35
46,XY gonadal dysgenesis - motor and sensory neuropathy35
Anorchidia, bilateral35
Congenital adrenal insufficiency due to adrenal hypoplasia35
Gonadal dysgenesis, XY female type35
Gonadal dysgenesis, XY type - associated anomalies35
XY/XO gonadal dysgenesis35
3-Phosphoglycerate dehydrogenase deficiency36
Neurometabolic disorder due to serine deficiency36
Acrofacial dysostosis, Weyers type37
Ellis Van Creveld syndrome37
Epilepsy, nocturnal, frontal lobe type38
Epilepsy, partial, familial38
Deletion 17q1139
Excessive growth - learning disabilities - facial dysmorphism39
Grisart-Destree syndrome39
Neurofibromatosis - Noonan syndrome39
Neurofibromatosis type 139
Neurofibromatosis, familial segmental39
Neurofibromatosis, familial spinal39
Watson syndrome39
Glutaryl-CoA dehydrogenase deficiency40
Multiple FAD dehydrogenase deficiency40
Uniparental disomy of maternal origin, chromosome 1441
Uniparental disomy of paternal origin, chromosome 1441
Pontocerebellar hypoplasia42
Pontocerebellar hypoplasia type 242
Pontocerebellar hypoplasia type 442
Pontocerebellar hypoplasia type 642
Benign recurrent intrahepatic cholestasis43
Cholestasis, progressive familial intrahepatic 243
Cholestasis, progressive familial intrahepatic 343
Cholestasis, progressive familial intrahepatic, type 143
Intrahepatic cholestasis of pregnancy43
Low phospholipid associated cholelithiasis43
Progressive familial intrahepatic cholestasis43
BOR syndrome44
Branchio-otic syndrome44
Otofaciocervical syndrome44
Bronchopneumopathy, chronic, due to TAP deficiency45
Immunodeficiency by defective expression of HLA class 145
Immunodeficiency by defective expression of HLA class 245
Chorea familial, benign46
Hyperthyroidism, familial, due to mutations in TSH receptor46
Hyperthyroidism, familial, gestational46
Hypothyroidism, congenital46
Hypothyroidism, congenital idiopathic46
Thyroid dyshormonogenesis, familial46
Thyroid-stimulating hormone, beta chain deficiency46
Alpha-1 antitrypsin deficiency47
Hemorrhagic disease due to alpha-1 antitrypsin Pittsburg mutation47
Alpha thalassemia - intellectual deficit, X-linked48
Carpenter-Waziri syndrome48
Chudley-Lowry-Hoar syndrome48
Holmes-Gang syndrome48
Intellectual deficit, X-linked - hypotonic face48
Intellectual deficit, X-linked, Cabezas type48
Intellectual deficit, X-linked, Wei type48
Juberg-Marsidi syndrome48
Smith-Fineman-Myers syndrome48
Alport syndrome49
Diffuse leiomyomatosis - Alport syndrome X-linked49
Alpha-N-acetylgalactosaminidase deficiency, type 150
N-acetyl-alpha-D-galactosaminidase deficiency50
Alpers syndrome51
Ataxia, mitochondrial recessive, syndrome51
Infantile onset spinocerebellar ataxia51
Mitochondrial DNA depletion syndrome51
Myoneurogastrointestinal encephalopathy syndrome51
Progressive external ophthalmoplegia51
Sensory ataxic neuropathy - dysarthria - ophthalmoparesis51
Alopecia universalis52
Atrichia with papular lesions52
Marie Unna congenital hypotrichosis52
Aicardi-Goutieres syndrome53
Cerebroretinal vasculopathy53
Hereditary vascular retinopathy53
Lupus erythematosus, cutaneous53
Lupus, chilblain53
Albers-Schonberg osteopetrosis54
Autosomal recessive malignant osteopetrosis54
Expansile osteolysis, familial form54
Osteopetrosis - hypogammaglobulinemia54
ADULT syndrome55
Ankyloblepharon - ectodermal defects - cleft lip palate55
Bakrania-Ragge syndrome55
Cleft lip with or without cleft palate55
EEC syndrome55
Limb-mammary syndrome55
Pterygium popliteal syndrome, autosomal dominant55
Rapp-Hodgkin syndrome55
Split hand - split foot55
Split hand - split foot - deafness55
Van Der Woude syndrome55
Zlotogora-Ogur syndrome55
Allan-Herndon-Dudley syndrome56
Autosomal dominant spastic paraplegia, type 1356
Intellectual deficit, X-linked - Spastic paraplegia with iron deposits56
Pelizaeus-Merzbacher disease56
X-linked spastic paraplegia, type 256
Albright hereditary osteodystrophy57
Ectopic ossification, familial type57
Fibrous dysplasia of bone57
McCune-Albright syndrome57
Pseudohypoparathyroidism, type 1A57
Pseudohypoparathyroidism, type 1C57
Acro-renal-ocular syndrome58
IVIC syndrome58
Okihiro syndrome58
Action myoclonus - renal failure syndrome59
Severe combined immunodeficiency T- B+59
Acrokeratosis verruciformis of Hopf60
Darier disease60
Carpenter syndrome61
Adrenoleukodystrophy, X-linked62
Adrenoleukodystrophy, X-linked, cerebral form62
Graesbeck-Imerslund disease62
Angioedema, hereditary63
Atypical hemolytic uremic syndrome63
Atypical hemolytic uremic syndrome with C3 anomaly63
Atypical hemolytic uremic syndrome with I factor anomaly63
Complement component 2 deficiency63
Complement regulatory proteins anomaly63
Congenital factor XII deficiency63
Drusen dominant63
Immunodeficiency with a complement cascade protein anomaly63
Immunodeficiency with factor H anomaly63
Immunodeficiency with factor I anomaly63
Membranoproliferative glomerulonephritis63
Autosomal dominant limb-girdle muscular dystrophy, type 1A64
Autosomal dominant hypohidrotic ectodermal dysplasia65
Christ-Siemens-Touraine syndrome65
Ectodermal dysplasia, hypohidrotic, autosomal recessive65
Hypodontia - dysplasia of nails65
Odonto-onycho-dermal dysplasia65
Schopf-Schulz-Passarge syndrome65
Tessier number 5 facial cleft65
Autosomal dominant severe congenital neutropenia66
Neutropenia cyclic66
Neutropenia, congenital66
Neutropenia, idiopathic, adult form66
Autosomal dominant optic atrophy, OPA1 type67
Deafness-optic atrophy syndrome67
Optic atrophy67
Treft-Sanborn-Carey syndrome67
Autosomal recessive limb-girdle muscular dystrophy, type 2B68
Congenital myopathy, Paradas type68
Distal myopathy with anterior tibial onset68
Miyoshi myopathy68
Autosomal dominant spastic paraplegia, type 1769
Lipodystrophy, Berardinelli type69
Paraparesis amyotrophy of hands and feet69
Autosomal recessive spastic paraplegia, type 5A70
Bile acid synthesis defect with cholestasis and malabsorption70
Bile acid synthesis defect, congenital, type 170
Bile acid synthesis defect, congenital, type 270
Bile acid synthesis defect, congenital, type 370
Bile acid synthesis defect, congenital, type 470
Hereditary motor and sensory neuropathy70
Ataxia, episodic, type 171
Hereditary continuous muscle fiber activity71
Isolated dominant hypomagnesemia71
Magnesium wasting, renal71
Ataxia, cerebellar, autosomal dominant, type 372
Ataxia, spinocerebellar, type 472
Ataxia - deafness - optic atrophy, lethal73
Charcot-Marie-Tooth disease, X-linked73
Phosphoribosylpyrophosphate synthetase superactivity73
X-linked Charcot-Marie-Tooth disease, type 173
X-linked Charcot-Marie-Tooth disease, type 573
Mantle cell lymphoma74
Ataxia, spinocerebellar, type 1575
Ataxia, spinocerebellar, type 1675
Athabaskan brainstem dysgenesis syndrome76
Bosley-Salih-Alorainy syndrome76
Atrial myxoma, familial77
Carney complex77
Primary pigmented nodular adrenocortical disease77
Trismus - pseudocamptodactyly77
Bilateral microtia - deafness - cleft palate78
Ankylosis of teeth79
Chondrodysplasia, Blomstrand type79
Eiken syndrome79
Metaphyseal chondrodysplasia, Jansen type79
Aromatase deficiency80
Aromatase excess syndrome80
Arthrogryposis, lethal - anterior horn cell disease81
Contracture syndrome, lethal, congenital type 181
Amegakaryocytic thrombocytopenia, congenital82
Thrombocytosis, familial82
Amelia, autosomal recessive83
Tetraamelia - pulmonary hypoplasia83
Androgen insensitivity syndrome84
Kennedy disease84
Angio-osteohypertrophic syndrome85
Capillary malformation-arteriovenous malformation85
Distal myopathy, Nonaka type86
Sialuria French type86
Dyserythropoietic anemia, congenital87
Dyserythropoietic anemia, congenital, type I87
Dyserythropoietic anemia, congenital, type II87
Dyggve-Melchior-Clausen disease88
Smith-McCort dysplasia88
Dentin dysplasia89
Dentinogenesis imperfecta89
Dentinogenesis imperfecta type 289
Dentinogenesis imperfecta type 389
Diabetes insipidus, nephrogenic90
Inappropriate antidiuretic hormone secretion syndrome90
Distal hereditary motor neuropathy, type 791
Perry syndrome91
Diphosphoglycerate mutase deficiency of erythrocyte92
Hypotonia - cystinuria syndrome93
Deafness - opticoacoustic nerve atrophy - dementia94
Mohr-Tranebjaerg syndrome94
Dent syndrome95
Lowe syndrome95
Craniosynostosis, Boston type96
Exostoses, multiple96
Langer-Giedion syndrome96
Parietal foramina96
Potocki-Shaffer syndrome96
Trichorhinophalangeal syndrome, type 1 and 396
Creutzfeldt-Jakob disease97
Gerstmann-Straussler-Scheinker syndrome97
Huntington disease-like 197
Insomnia, familial fatal97
Cylindromatosis, familial98
Trichoepithelioma multiple, familial98
Congenital deficiency in alpha-fetoprotein99
Hereditary persistence of alpha-fetoprotein99
Congenital bilateral absence of vas deferens100
Cystic fibrosis100
Hereditary chronic pancreatitis100
Common variable immunodeficiency101
Immunoglobulin A deficiency101
Congenital insensitivity to pain102
Paroxysmal extreme pain disorder102
Primary erythermalgia102
Congenital factor V deficiency103
Resistance to activated protein C103
Coats disease104
Exudative retinopathy, familial104
Norrie disease104
Osteopetrosis, autosomal dominant, type 1104
Osteoporosis - pseudoglioma104
Osteosclerosis - developmental delay - craniosynostosis104
Osteosclerosis, autosomal dominant, Worth type104
Retinopathy of prematurity104
Combined pituitary hormone deficiencies, genetic forms105
Intellectual deficit, X-linked, with isolated growth hormone deficiency105
Cold-induced sweating syndrome106
Crisponi syndrome106
Chronic myeloproliferative disease107
Chronic myeloproliferative disease, unclassified107
Idiopathic hypereosinophilic syndrome107
Leukemia, myelomonocytic, chronic107
Myelodysplastic/myeloproliferative disease107
Myeloid neoplasm associated with PDGFRB rearrangement107
CINCA syndrome108
Familial cold urticaria108
Muckle-Wells syndrome108
Chondrodysplasia punctata, rhizomelic type109
Refsum disease109
Chondrodysplasia punctata, brachytelephalangic110
Chondrodysplasia punctata, nonrhizomelic type110
X-linked dominant chondrodysplasia punctata110
Caudal regression sequence111
Familial caudal dysgenesis111
Homocystinuria due to methylenetetrahydrofolate reductase deficiency111
Methylcobalamin deficiency, cbl G type111
Neural tube defect111
Spina bifida111
Chondrocalcinosis, familial articular112
Craniometaphyseal dysplasia112
Cholesteryl ester storage disease113
Wolman disease113
Cataract - intellectual deficit - hypogonadism114
Micro syndrome114
Buschke-Ollendorff syndrome115
Osteopoikilosis, isolated115
Calcinosis, tumoral116
Vitamin D resistant rickets116
Boichis disease117
Polycystic kidney disease, autosomal recessive117
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency118
Vitamin K-dependent clotting factors, combined deficiency of118
Cervical dystonia119
Blepharophimosis - epicanthus inversus - ptosis120
Fragile X syndrome120
Fragile X-associated tremor/ataxia syndrome120
Hypergonadotropic ovarian dysgenesis120
Ovarian hyperstimulation syndrome120
Premature ovarian failure120
Birt-Hogg-Dube syndrome121
Spontaneous pneumothorax familial type121
Biermer disease122
Megaloblastic anemia due to inadequate secretion of intrinsic factor122
Bicuspid aortic valve123
Leukemia, T-cell prolymphocytic123
Heinz body anemia124
Hemoglobin C disease124
Hemoglobin E disease124
Sickle cell anemia124
Best disease125
Retinopathy, Burgess-Black type125
Bernard-Soulier syndrome126
Pseudo-Von Willebrand disease126
Benign familial epilepsy of childhood with rolandic spikes127
Polymicrogyria, bilateral, perisylvian127
Rolandic epilepsy - speech dyspraxia127
Severe combined immunodeficiency - microcephaly - growth retardation - sensitivity to ionizing radiation127
Beckwith-Wiedemann syndrome128
Silver-Russell syndrome128
Sotos syndrome128
Weaver syndrome128
Weaver-like syndrome128
Basal ganglia disease, biotin-responsive129
Thiamine-responsive encephalopathy129
Baller-Gerold syndrome130
RAPADILINO syndrome130
Rothmund-Thomson syndrome130
Poikiloderma of Kindler131
Poikiloderma, hereditary acrokeratotic, Weary type131
Prolactinoma, familial132
Somatotroph adenoma132
Protein S acquired deficiency133
Protein S deficiency133
Proximal myotonic myopathy134
Steinert myotonic dystrophy134
Pseudohypoaldosteronism, type 2135
Pseudohypoaldosteronism, type 2C135
Radio-ulnar synostosis136
Radio-ulnar synostosis - amegakaryocytic thrombocytopenia136
Renal tubular acidosis, proximal, pure, familial137
Renal tubular acidosis, proximal, with ocular abnormalities and intellectual deficit137
Scleroderma, systemic138
Thrombocytopenia, X-linked139
Wiskott-Aldrich syndrome139
X-linked severe congenital neutropenia139
Thrombotic thrombocytopenic purpura140
Thrombotic thrombocytopenic purpura, congenital, due to ADAMTS-13 deficiency140
Von Willebrand disease141
Von Willebrand disease, type 1141
Von Willebrand disease, type 2141
Von Willebrand disease, type 2A141
Von Willebrand disease, type 2B141
Von Willebrand disease, type 2M141
Von Willebrand disease, type 2N141
Von Willebrand disease, type 3141
Microcephalic osteodysplastic primordial short stature, type 2142
Seckel syndrome142
Methylmalonic acidemia - homocystinuria143
Methylmalonicacidemia - homocystinuria, type cbl C143
Methylmalonicacidemia - homocystinuria, type cbl D143
Methylmalonicacidemia - homocystinuria, type cbl F143
Mucolipidosis type 2144
Mucolipidosis type 3144
Microdontia - type I microtia - deafness145
Otodental syndrome145
Myelofibrosis with myeloid metaplasia146
Polycythemia vera146
Thrombocythemia, essential146
Mucopolysaccharidosis type 6147
Nephrotic syndrome, idiopathic, steroid-resistant, with diffuse mesangial sclerosis, familial form148
Nephrotic syndrome, idiopathic, steroid-resistant, with focal segmental hyalinosis, familial form148
Nanism due to growth hormone qualitative anomaly149
Nonacquired isolated growth hormone deficiency149
Niemann-Pick disease150
Niemann-Pick disease, type A150
Niemann-Pick disease, type B150
Nonacquired combined pituitary hormone deficiency151
Septooptic dysplasia151
Nodulosis-arthropathy-osteolysis syndrome152
Torg-Winchester syndrome152
Nystagmus, idiopathic, congenital153
Ocular albinism, X-linked recessive153
Nonsyndromic thrombocytopenia154
Thrombocytopenia - chromosome breakage154
Overhydrated hereditary stomatocytosis155
Rh deficiency syndrome155
Papillo-renal syndrome156
Kenny-Caffey syndrome157
Kenny-Caffey syndrome, autosomal recessive157
Sanjad-Sakati syndrome157
Intellectual deficit X-linked, Sutherland-Haan type158
Intellectual deficit, X-linked, Golabi-Ito-Hall type158
Renpenning syndrome158
Intellectual deficit, X-linked - monoamine oxidase A metabolism anomaly159
Monoamine oxidase-A deficiency159
Leukocyte adhesion deficiency160
Leukocyte adhesion deficiency, type I160
Leukocyte adhesion deficiency, type II160
Leukocyte adhesion deficiency, type III160
Langer mesomelic dysplasia161
Leri-Weill dyschondrosteosis161
Short stature, idiopathic161
Lissencephaly due to LIS1 mutation162
Miller-Dieker syndrome162
Lissencephaly syndrome, Norman-Roberts type163
Leydig cell hypoplasia164
Mayer-Rokitansky-Kuester-Hauser syndrome165
SERKAL syndrome165
Lymphedema - distichiasis166
Lymphedema - ptosis166
Yellow nail syndrome166
Hurler syndrome167
Hurler-Scheie syndrome167
Mucopolysaccharidosis type 1167
Scheie syndrome167
Hereditary sensory and autonomic neuropathy, type 4168
Hereditary sensory and autonomic neuropathy, type 5168
Hereditary methemoglobinemia169
Recessive hereditary methemoglobinemia type 1169
Recessive hereditary methemoglobinemia type 2169
Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia170
Sporadic inclusion body myositis170
Hyperimmunoglobinemia D with recurrent fever171
Hyperekplexia - epilepsy172
X-linked neuromuscular intellectual deficit172
Hyaline fibromatosis, juvenile173
Hyalinosis, infantile systemic173
Hyperparathyroidism, neonatal severe, primary174
Hypocalcemia, autosomal dominant174
Hypocalciuric hypercalcemia, familial174
Hypoparathyroidism, familial, isolated174
Ligneous conjunctivitis176
Hyperprolinemia type I177
Hartnup syndrome178
Tyrosinemia, type 3179
Heart-hand syndrome type 2180
Holt-Oram syndrome180
Schinzel syndrome180
Growth delay due to insulin-like growth factor I deficiency181
Short stature due to growth hormone resistance181
Haim-Munk syndrome182
Papillon-Lefevre syndrome182
Hand-foot-uterus syndrome183
Preaxial deficiency - postaxial polydactyly - hypospadias183
Hemophilia A184
Hemophilia B184
Mild hemophilia A184
Mild hemophilia B184
Moderately severe hemophilia A184
Moderately severe hemophilia B184
Severe hemophilia A184
Severe hemophilia B184
Symptomatic form of hemophilia A in female carriers184
Symptomatic form of hemophilia B in female carriers184
Fuhrmann syndrome185
Phocomelia, Schinzel type185
GM1 gangliosidosis186
Gangliosidosis GM1, type 1186
Gangliosidosis GM1, type 3186
Mucopolysaccharidosis type 4186
Fumaric aciduria187
Leiomyomatosis, familial187
Fish-eye disease188
LCAT deficiency188
Generalized resistance to thyroid hormone189
Resistance to thyrotropin-releasing hormone syndrome189
Selective pituitary resistance to thyroid hormone189
Glanzmann thrombasthenia190
Macrothrombocytopenia with abnormal proplatelet formation, autosomal dominant190
Encephalopathy due to prosaposin deficiency191
Gaucher disease191
Gaucher disease - ophthalmoplegia - cardiovascular calcification191
Gaucher disease, type 1191
Gaucher disease, type 2191
Gaucher disease, type 3191
Metachromatic leukodystrophy191
Perinatal-lethal Gaucher disease191
Pseudoarylsulfatase A deficiency191
Elliptocytosis, common, hereditary192
Elliptocytosis, hereditary192
Pyropoikilocytosis, hereditary192
Renal tubular acidosis, distal192
Spherocytosis hereditary192
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis193
Hypomagnesemia with normocalciuria193
Familial dementia, British type194
Familial dementia, Danish type194
Familial hematuria, autosomal dominant - retinal arteriolar tortuosity - contractures195
Erythrokeratodermia, progressive symmetric196
Vohwinkel syndrome - ichthyosis196
Dystonia-parkinsonism, Paisan-Ruiz type197
HARP syndrome197
Hyperferritinemia, hereditary, with congenital cataracts197
Infantile neuroaxonal dystrophy197
Neurodegeneration with brain iron accumulation197
Pantothenate-kinase-associated neurodegeneration197
Early infantile epileptic encephalopathy198
Early myoclonic encephalopathy198
Dystonia, dopa-responsive199
Dystonia, dopa-responsive, autosomal dominant199
Dystonia, dopa-responsive, autosomal recessive199
GTP cyclohydrolase I deficiency199
Dyssegmental dysplasia, Silverman-Handmaker type200
Schwartz-Jampel syndrome200
Dyskinesia, paroxysmal exertion-induced201
Encephalopathy due to GLUT1 deficiency201
Elejalde syndrome202
Griscelli disease202
Ehlers-Danlos syndrome, type 6203
Nevo syndrome203
Ehlers-Danlos syndrome204
Ehlers-Danlos syndrome, spondylocheiro dysplastic type204
Ehlers-Danlos syndrome, type 10204
EEM syndrome205
Macular degeneration, juvenile - hypotrichosis205
Ectodermal dysplasia - anhidrotic, with immunodeficiency - osteopetrosis - lymphedema206
Hyper-IgM syndrome206
Hyper-IgM syndrome, autosomal recessive206
Incontinentia pigmenti206
Early onset torsion dystonia207
Myoclonic dystonia207

The exploration is done with the Adobe Flash Web application GexfWalker. (Hint: find a specific orphan disease or related gene by searching it with the search feature of your web browser)