Exhaustive list - Orphan diseases network

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
Ectodermal dysplasia - anhidrotic, with immunodeficiency - osteopetrosis - lymphedema	0
Hypohidrotic ectodermal dysplasia with immunodeficiency	0
Nephrotic syndrome, idiopathic, steroid-resistant, familial	1
Nephrotic syndrome, idiopathic, steroid-resistant, with focal segmental hyalinosis, familial form	1
Porphyria, acute hepatic	2
Porphyria, acute intermittent	2
Autosomal dominant Charcot-Marie-Tooth disease, type 2E	3
Autosomal dominant Charcot-Marie-Tooth disease, type 2F	3
2,8 dihydroxyadenine urolithiasis	4
3-hydroxyacyl-CoA dehydrogenase, long chain, deficiency of	4
3-hydroxyacyl-CoA dehydrogenase, short chain, deficiency of	4
3-hydroxylacyl-CoA dehydrogenase deficiency	4
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency	4
Aarskog-Scott syndrome	4
Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia	4
Acatalasemia	4
Aceruloplasminemia	4
Achondrogenesis	4
Achondroplasia	4
Achromatopsia	4
Acromegaly	4
Acyl-CoA dehydrogenase, long chain, deficiency of	4
Acyl-CoA dehydrogenase, medium chain, deficiency of	4
Acyl-CoA dehydrogenase, very long chain, deficiency of	4
Agammaglobulinemia, alymphocytotic type	4
Aland Island eye disease	4
Albers-Schonberg osteopetrosis	4
Albinism ocular - late onset sensorineural deafness	4
Albright hereditary osteodystrophy	4
Alexander disease	4
Allan-Herndon-Dudley syndrome	4
Alpha thalassemia - intellectual deficit, X-linked	4
Alpha-1 antitrypsin deficiency	4
Alpha-thalassemia	4
Alport syndrome	4
Alzheimer disease, familial	4
Amyotrophic lateral sclerosis	4
Androgen insensitivity syndrome	4
Angelman syndrome	4
Angio-osteohypertrophic syndrome	4
Aniridia	4
Anorchidia, bilateral	4
Antley-Bixler syndrome	4
Aortic aneurysm syndrome, Loeys-Dietz type	4
Apert syndrome	4
Apparent mineralocorticoid excess	4
Argininosuccinicaciduria	4
Aromatase deficiency	4
Arterial tortuosity	4
Aspartylglucosaminuria	4
Ataxia - oculomotor apraxia, type 1	4
Ataxia, cerebellar, autosomal dominant, type 3	4
Ataxia, mitochondrial recessive, syndrome	4
Ataxia, spastic, Charlevoix-Saguenay type	4
Ataxia, spinocerebellar, autosomal dominant, type 7	4
Ataxia-telangiectasia	4
Atrioventricular canal, complete	4
Atypical hemolytic uremic syndrome	4
Autism	4
Autoimmune lymphoproliferative syndrome	4
Autoimmune polyendocrinopathy, type 1	4
Autosomal dominant Charcot-Marie-Tooth disease, type 2I	4
Autosomal dominant centronuclear myopathy	4
Autosomal dominant intermediate Charcot-Marie-Tooth disease, type B	4
Autosomal dominant limb-girdle muscular dystrophy, type 1A	4
Autosomal dominant optic atrophy, OPA1 type	4
Autosomal dominant severe congenital neutropenia	4
Autosomal dominant spastic paraplegia, type 10	4
Autosomal dominant spastic paraplegia, type 3	4
Autosomal dominant spastic paraplegia, type 4	4
Autosomal dominant spastic paraplegia, type 6	4
Autosomal recessive centronuclear myopathy	4
Autosomal recessive cerebellar ataxia	4
Autosomal recessive limb-girdle muscular dystrophy, type 2B	4
Autosomal recessive malignant osteopetrosis	4
Autosomal recessive spastic paraplegia, type 5A	4
Autosomal recessive spastic paraplegia, type 7	4
Avascular necrosis of femoral head, familial form	4
BIDS syndrome	4
Baller-Gerold syndrome	4
Bamforth syndrome	4
Bannayan-Riley-Ruvalcaba syndrome	4
Bardet-Biedl syndrome	4
Bartter syndrome	4
Beals syndrome	4
Beckwith-Wiedemann syndrome	4
Benign familial infantile seizures	4
Benign familial neonatal seizures	4
Bernard-Soulier syndrome	4
Best disease	4
Beta-thalassemia	4
Bile acid synthesis defect, congenital, type 3	4
Birt-Hogg-Dube syndrome	4
Blackfan-Diamond disease	4
Bloom syndrome	4
Blue cone monochromatism	4
Bosley-Salih-Alorainy syndrome	4
Branchio-otic syndrome	4
Breast cancer, familial	4
Butyrylcholinesterase deficiency	4
CDG syndrome, type IIe	4
CHARGE syndrome	4
CHILD syndrome	4
Carbamoylphosphate synthetase deficiency	4
Cardiodysrythmic potassium-sensitive periodic paralysis	4
Cardiofaciocutaneous syndrome	4
Cardiomyopathy - hypotonia, due to cytochrome c oxidase deficiency	4
Cardiomyopathy, familial dilated	4
Cardiomyopathy, hypertrophic, primary or idiopathic	4
Carnitine-acylcarnitine translocase deficiency	4
Cataract with Y-shaped suture opacities	4
Cataract, Coppock-like	4
Cataract, cerulean	4
Cataract, nuclear	4
Cataract, posterior polar	4
Cataract, pulverulent	4
Cataract, zonular	4
Cataract-microcornea syndrome	4
Celiac disease	4
Central core disease	4
Cerebral hemorrhage with amyloidosis, hereditary	4
Cervical dystonia	4
Charcot-Marie-Tooth disease, type 1A	4
Charcot-Marie-Tooth disease, type 1B	4
Charcot-Marie-Tooth disease, type 1C	4
Charcot-Marie-Tooth disease, type 1D	4
Charcot-Marie-Tooth disease, type 1E	4
Charcot-Marie-Tooth disease, type 4A	4
Charcot-Marie-Tooth disease, type 4D	4
Chediak-Higashi syndrome	4
Cherubism	4
Chloride diarrhea, congenital	4
Chondrodysplasia punctata, brachytelephalangic	4
Chorea familial, benign	4
Choroidal dystrophy, central areolar	4
Choroideremia	4
Christ-Siemens-Touraine syndrome	4
Chromosome Y deletion	4
Chylomicron retention disease	4
Citrullinemia	4
Classic Ehlers-Danlos syndrome	4
Cleft lip with or without cleft palate	4
Cleft palate	4
Cleidocranial dysplasia	4
Coats disease	4
Cockayne syndrome	4
Coenzyme Q 10 (CoQ10), deficiency	4
Coffin-Lowry syndrome	4
Cohen syndrome	4
Colon cancer, familial nonpolyposis	4
Combined deficiency of factor V and factor VIII	4
Common variable immunodeficiency	4
Complement component 2 deficiency	4
Congenital adrenal hyperplasia	4
Congenital cataracts - facial dysmorphism - neuropathy	4
Congenital factor II deficiency	4
Congenital factor V deficiency	4
Congenital factor VII deficiency	4
Congenital factor X deficiency	4
Congenital factor XI deficiency	4
Congenital insensitivity to pain	4
Congenital muscular dystrophy type 1A	4
Congenital muscular dystrophy, Ullrich type	4
Congenital myasthenic syndromes	4
Congenital prekallikrein deficiency	4
Costello syndrome	4
Cowden syndrome	4
Craniofacial-deafness-hand syndrome	4
Craniofrontonasal dysplasia	4
Craniosynostosis, Boston type	4
Creutzfeldt-Jakob disease	4
Crohn disease	4
Crouzon disease	4
Crouzon syndrome - acanthosis nigricans	4
Cutis laxa, dominant type	4
Cutis laxa, recessive type 1	4
Cutis laxa, recessive type 2	4
Cystathioninuria	4
Cystic fibrosis	4
Cystinosis	4
Cystinuria	4
Deaf blind hypopigmentation syndrome, Yemenite type	4
Deafness-infertility syndrome	4
Defective apolipoprotein B-100, familial	4
Dejerine-Sottas syndrome	4
Dent syndrome	4
Dentatorubral pallidoluysian atrophy	4
Dermopathy restrictive, lethal	4
Desminopathy	4
Desmosterolosis	4
Diabetes mellitus, neonatal	4
Diabetes, neonatal - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys	4
Digitotalar dysmorphism	4
Distal hereditary motor neuropathy, type 1	4
Distal hereditary motor neuropathy, type 7	4
Distal myopathy with vocal cord weakness	4
Distal myopathy, Nonaka type	4
Dravet syndrome	4
Drusen dominant	4
Duchenne and Becker muscular dystrophy	4
Dyserythropoietic anemia, congenital, type I	4
Dyserythropoietic anemia, congenital, type II	4
Dysplasia, mandibuloacral with type A lipodystrophia	4
Dysplasia, mandibuloacral with type B lipodystrophy	4
Dystonia-parkinsonism, Paisan-Ruiz type	4
Ectopia lentis isolated	4
Ehlers-Danlos syndrome, type 3	4
Ehlers-Danlos syndrome, type 4	4
Ehlers-Danlos syndrome, type 6	4
Ehlers-Danlos syndrome, type 7	4
Ehlers-Danlos syndrome, type 7C	4
Elliptocytosis, hereditary	4
Emery-Dreifuss muscular dystrophy	4
Encephalopathy due to sulfite oxidase deficiency	4
Encephalopathy, ethylmalonic	4
Endocrine tumor	4
Enolase deficiency	4
Epidermolysis bullosa simplex - limb girdle muscular dystrophy	4
Epidermolysis bullosa simplex - pyloric atresia	4
Epidermolysis bullosa simplex with mottled pigmentation	4
Epidermolysis bullosa simplex, Dowling-Meara type	4
Epidermolysis bullosa simplex, Koebner type	4
Epidermolysis bullosa simplex, autosomal recessive	4
Epidermolysis bullosa, dystrophic	4
Epidermolysis bullosa, junctional - pyloric atresia	4
Epidermolysis bullosa, junctional, Herlitz type	4
Epidermolysis bullosa, junctional, non-Herlitz type	4
Epstein syndrome	4
Erythroderma, congenital ichthyosiform, bullous	4
Erythroderma, congenital ichthyosiform, nonbullous	4
Esophageal carcinoma	4
Estrogen resistance syndrome	4
Exostoses, multiple	4
FRAXE syndrome	4
FRAXF syndrome	4
Fabry disease	4
Facioscapulohumeral muscular myopathy	4
Familial adenomatous polyposis	4
Familial amyloid polyneuropathy	4
Familial mediterranean fever	4
Fanconi anemia	4
Fatal infantile cytochrome C oxidase deficiency	4
Fetal and neonatal alloimmune thrombocytopenia	4
Focal dermal hypoplasia	4
Foveal hypoplasia - presenile cataract	4
Fragile X syndrome	4
Frasier syndrome	4
Free sialic acid storage disease	4
Freeman-Sheldon syndrome	4
Friedreich ataxia	4
Frontotemporal dementia	4
Fucosidosis	4
GM1 gangliosidosis	4
Galactosialidosis	4
Gastric cancer, familial	4
Gaucher disease, type 1	4
Gaucher disease, type 3	4
Generalized epilepsy with febrile seizures-plus context	4
Genetic sideroblastic anemia	4
Geroderma osteodysplastica	4
Gerstmann-Straussler-Scheinker syndrome	4
Glanzmann thrombasthenia	4
Glaucoma, hereditary	4
Glioblastoma	4
Glomuvenous malformation	4
Glucocorticoid resistance	4
Glucose-6-phosphate-dehydrogenase deficiency	4
Glucosephosphate isomerase deficiency	4
Glycogen storage disease due to LAMP-2 deficiency	4
Glycogen storage disease type 1	4
Glycogen storage disease type 2	4
Glycogen storage disease type 3	4
Glycogen storage disease type 4	4
Gnathodiaphyseal dysplasia	4
Gonadal dysgenesis, XY female type	4
Gorlin syndrome	4
Granulomatous disease, chronic	4
Greenberg dysplasia	4
Gusher syndrome	4
Hashimoto struma	4
Hemihypertrophy	4
Hemochromatosis, adult form	4
Hemolytic anemia due to red cell pyruvate kinase deficiency	4
Hemophilia	4
Hereditary chronic pancreatitis	4
Hereditary methemoglobinemia	4
Hereditary persistence of fetal hemoglobin	4
Hereditary sensory and autonomic neuropathy, type 1	4
Hereditary sensory and autonomic neuropathy, type 2	4
Hereditary sensory and autonomic neuropathy, type 5	4
Hermansky-Pudlak syndrome	4
Hermansky-Pudlak syndrome type 2	4
Heterotaxia	4
Hirschsprung disease	4
Histidinemia	4
Histiocytosis, sea-blue	4
Holoprosencephaly	4
Holt-Oram syndrome	4
Homocystinuria due to cystathionine beta-synthase deficiency	4
Homocystinuria due to methylenetetrahydrofolate reductase deficiency	4
Huntington disease	4
Huntington disease-like 1	4
Huntington disease-like 2	4
Hyaline body myopathy	4
Hydrocephalus due to stenosis of aqueduct of Sylvius	4
Hydrolethalus	4
Hyper-IgM syndrome, type 1	4
Hyperandrogenism due to cortisone reductase deficiency	4
Hypercholesterolemia, familial	4
Hyperimmunoglobinemia D with recurrent fever	4
Hyperinsulinism-hyperammonemia syndrome	4
Hyperkalemic periodic paralysis	4
Hyperlipidemia type 3	4
Hyperornithinemia	4
Hyperprolinemia type I	4
Hypochondroplasia	4
Hypodontia	4
Hypophosphatasia	4
Hypothyroidism, congenital	4
ICF syndrome	4
Ichthyosis bullosa of Siemens	4
Ichthyosis congenita, harlequin type	4
Ichthyosis hystrix	4
Ichthyosis hystrix, Curth-Macklin type	4
Ichthyosis vulgaris, autosomal dominant	4
Ichthyosis, X-linked	4
Ichthyosis, lamellar	4
Iminoglycinuria	4
Immune dysregulation - polyendocrinopathy - enteropathy, X-linked	4
Incontinentia pigmenti	4
Infantile neuroaxonal dystrophy	4
Intellectual deficit - epilepsy, X-linked	4
Intellectual deficit, X-linked, Cantagrel type	4
Intellectual deficit, X-linked, Stocco Dos Santos type	4
Intellectual deficit, X-linked, Turner type	4
Intellectual deficit, X-linked, syndromic, due to JARID1C mutation	4
Intellectual deficit, X-linked, with isolated growth hormone deficiency	4
Intestinal pseudoobstruction, chronic, idiopathic	4
Isolated cloverleaf skull syndrome	4
Isovaleric acidemia	4
Jackson-Weiss syndrome	4
Juvenile gastrointestinal polyposis	4
Juvenile neuronal ceroid lipofuscinosis	4
KID syndrome	4
Kallmann syndrome	4
Kearns-Sayre syndrome	4
Keratitis, hereditary	4
Keratoconus, isolated	4
LEOPARD syndrome	4
Lactate dehydrogenase deficiency	4
Lactic acidosis, congenital	4
Laing distal myopathy	4
Late infantile neuronal ceroid lipofuscinosis	4
Lathosterolosis	4
Leber amaurosis, congenital	4
Leber hereditary optic neuropathy	4
Legg-Calve-Perthes disease	4
Leigh syndrome	4
Leiomyomatosis, familial	4
Leprosy	4
Lesch-Nyhan syndrome	4
Leucinosis	4
Leukemia, B-cell lymphocytic, chronic	4
Leukemia, lymphoblastic, acute	4
Leukemia, myeloid, acute	4
Leukocyte adhesion deficiency	4
Lewy body dementia	4
Li-Fraumeni syndrome	4
Liddle syndrome	4
Lipodystrophy, Berardinelli type	4
Lipodystrophy, familial partial, Dunnigan type	4
Lipoid proteinosis	4
Lupus erythematosus, systemic	4
Lupus, chilblain	4
Lymphedema - distichiasis	4
MELAS syndrome	4
MULIBREY nanism	4
Macular degeneration, age-related	4
Malignant hyperthermia	4
Marfan syndrome	4
Marinesco-Sjogren syndrome	4
Marshall syndrome	4
May-Hegglin thrombocytopenia	4
McKusick-Kaufman, syndrome	4
McLeod neuroacanthocytosis syndrome	4
Meckel syndrome	4
Medullary cystic kidney disease, autosomal dominant, with or without hyperuricemia	4
Medullary cystic kidney disease, autosomal recessive	4
Medulloblastoma	4
Melanoma, familial	4
Meningioma	4
Menkes disease	4
Metachromatic leukodystrophy	4
Metaphyseal chondrodysplasia, Schmid type	4
Methylmalonicacidemia - homocystinuria, type cbl C	4
Methylmalonicacidemia - homocystinuria, type cbl D	4
Microcephalic osteodysplastic primordial short stature, type 2	4
Microphthalmia - cataract	4
Mitochondrial DNA depletion syndrome	4
Miyoshi myopathy	4
Mohr-Tranebjaerg syndrome	4
Monosomy 22q11	4
Monosomy 22q13	4
Moyamoya disease	4
Mucocutaneous venous malformations	4
Mucolipidosis type 2	4
Mucolipidosis type 3	4
Mucopolysaccharidosis type 1	4
Mucopolysaccharidosis type 2	4
Mucopolysaccharidosis type 3	4
Mucopolysaccharidosis type 4	4
Mucopolysaccharidosis type 6	4
Mucosulfatidosis	4
Multiminicore myopathy	4
Multiple FAD dehydrogenase deficiency	4
Multiple carboxylase deficiency	4
Multiple endocrine neoplasia type 1	4
Multiple endocrine neoplasia, type 2	4
Multiple sclerosis	4
Muscle eye brain disease	4
Muscular dystrophy, Fukuyama type	4
Muscular dystrophy, limb-girdle, autosomal recessive, type 2A	4
Muscular dystrophy, limb-girdle, autosomal recessive, type 2C	4
Muscular dystrophy, limb-girdle, autosomal recessive, type 2D	4
Muscular dystrophy, limb-girdle, autosomal recessive, type 2E	4
Muscular dystrophy, limb-girdle, autosomal recessive, type 2F	4
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	4
Myelofibrosis with myeloid metaplasia	4
Myoneurogastrointestinal encephalopathy syndrome	4
NADH-CoQ reductase deficiency	4
Naegeli-Franceschetti-Jadassohn syndrome	4
Nail-patella syndrome	4
Nemaline myopathy	4
Nephroblastoma	4
Nephrotic syndrome, congenital, Finnish type	4
Neural tube defect	4
Neuroacanthocytosis	4
Neuroblastoma	4
Neuroferritinopathy	4
Neurofibromatosis - Noonan syndrome	4
Neurofibromatosis type 1	4
Neurofibromatosis type 2	4
Nevo syndrome	4
Niemann-Pick disease	4
Niemann-Pick disease, type C	4
Nijmegen breakage syndrome	4
Nonacquired combined pituitary hormone deficiency	4
Nonacquired isolated growth hormone deficiency	4
Nonsyndromic genetic deafness	4
Nonsyndromic thrombocytopenia	4
Noonan syndrome	4
Obesity due to congenital leptin deficiency	4
Obesity due to melanocortin-4 receptor deficiency	4
Occipital horn syndrome	4
Ocular albinism, X-linked recessive	4
Ocular anterior segment mesenchymal dysgenesis, familial	4
Oculocutaneous albinism	4
Oculodentodigital dysplasia	4
Oculopharyngeal muscular dystrophy	4
Optic atrophy	4
Oral-facial-digital syndrome, type 1	4
Ornithine carbamoyltransferase deficiency	4
Osteodysplasty, Melnick-Needles type	4
Osteogenesis imperfecta	4
Osteoglophonic dwarfism	4
Osteopetrosis with renal tubular acidosis	4
Osteopetrosis, autosomal dominant, type 1	4
Osteoporosis - pseudoglioma	4
Osteosclerotic bone dysplasia, lethal	4
PIBIDS syndrome	4
Pallister-Hall syndrome	4
Pancreatic carcinoma, familial	4
Paramyotonia congenita of Von Eulenburg	4
Parkinson disease, genetic type	4
Pelizaeus-Merzbacher disease	4
Pendred syndrome	4
Persistent hyperinsulinemic hypoglycemia of infancy	4
Peters-plus syndrome	4
Peutz-Jeghers syndrome	4
Pfeiffer syndrome	4
Phenylketonuria	4
Pheochromocytoma and secreting paraganglioma	4
Phosphoenolpyruvate carboxykinase (PEPCK) deficiency	4
Phytosterolemia	4
Pick disease of brain	4
Piebaldism	4
Pilomatrixoma	4
Platyspondylic dysplasia, Torrance type	4
Polycystic kidney disease, autosomal dominant	4
Polycystic kidney disease, autosomal recessive	4
Polycythemia vera	4
Polymicrogyria	4
Porphyria cutanea tarda	4
Porphyria, Variegata	4
Potassium aggravated myotonia	4
Potocki-Shaffer syndrome	4
Prader-Willi syndrome	4
Premature ovarian failure	4
Primary ciliary dyskinesia	4
Primary erythermalgia	4
Progeria	4
Progressive cone dystrophy	4
Progressive epilepsy-intellectual deficit, Finnish type	4
Progressive external ophthalmoplegia	4
Propionic acidemia	4
Prostate cancer, familial	4
Protein C deficiency	4
Proteus syndrome	4
Protoporphyria, erythropoietic	4
Pseudo-Von Willebrand disease	4
Pseudoachondroplasia	4
Purine nucleoside phosphorylase deficiency	4
Pyruvate dehydrogenase deficiency	4
Recurrent infection due to specific granule deficiency	4
Renal cell carcinoma, familial	4
Renal cell carcinoma, papillary, familial	4
Renal tubular acidosis, distal	4
Renal tubular acidosis, proximal, pure, familial	4
Renal tubular dysgenesis	4
Rendu-Osler-Weber disease	4
Renpenning syndrome	4
Resistance to activated protein C	4
Retinitis pigmentosa	4
Retinoblastoma	4
Rett syndrome	4
Rhabdomyosarcoma	4
Rieger syndrome	4
Rieger-Axenfeld anomaly	4
Rippling muscle disease	4
Roberts syndrome/SC phocomelia	4
Robinow syndrome	4
Rubinstein-Taybi syndrome	4
SCAD deficiency	4
Saethre-Chotzen syndrome	4
Saguenay-Lac-St	4
Sandhoff disease	4
Sarcosinemia	4
Schizophrenia	4
Schneckenbecken dysplasia	4
Senior-Loken syndrome	4
Severe achondroplasia - developmental delay - acanthosis nigricans	4
Severe combined immunodeficiency due to ZAP70 deficiency	4
Severe combined immunodeficiency due to adenosine deaminase deficiency	4
Sheldon-Hall syndrome	4
Short stature due to growth hormone resistance	4
Short stature, idiopathic	4
Shprintzen-Goldberg syndrome	4
Shwachman-Diamond syndrome	4
Sialidosis type 1	4
Sialuria French type	4
Sickle cell anemia	4
Sideroblastic anemia, X-linked	4
Simpson-Golabi-Behmel syndrome	4
Sjoegren-Larsson syndrome	4
Smith-Lemli-Opitz syndrome	4
Sorsby's fundus dystrophy	4
Sotos syndrome	4
Split hand - split foot	4
Spondyloepiphyseal dysplasia, congenital type	4
Sporadic inclusion body myositis	4
Stein-Leventhal syndrome	4
Steinert myotonic dystrophy	4
Supranuclear palsy, progressive	4
Syndactyly, type 2	4
Syndactyly, type 3	4
TRAPS syndrome	4
Tay-Sachs disease	4
Thanatophoric dwarfism, type I	4
Thanatophoric dwarfism, type II	4
Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness	4
Thomsen and Becker disease	4
Thrombocythemia, essential	4
Thrombocytopenia - chromosome breakage	4
Thrombotic thrombocytopenic purpura, congenital, due to ADAMTS-13 deficiency	4
Thyroid carcinoma, papillary or follicular	4
Thyrotoxic periodic paralysis	4
Tibial muscular dystrophy	4
Tietz syndrome	4
Treacher-Collins syndrome	4
Tremor hereditary essential	4
Trichorhinophalangeal syndrome, type 1 and 3	4
Trimethylaminuria	4
Triose phosphate-isomerase deficiency	4
Trismus - pseudocamptodactyly	4
Tritanopia	4
Tuberous sclerosis	4
Usher syndrome	4
VACTERL with hydrocephalus	4
VATER association	4
Vitamin B12 responsive methylmalonic acidemia, type cbl A	4
Vitamin D resistant rickets	4
Vitamin K-dependent clotting factors, combined deficiency of	4
Von Hippel-Lindau disease	4
Von Willebrand disease	4
WAGR syndrome	4
Waardenburg syndrome type 1	4
Waardenburg syndrome type 2	4
Waardenburg syndrome type 3	4
Waardenburg-Shah syndrome	4
Watson syndrome	4
Weaver syndrome	4
Weissenbacher- Zweymuller syndrome	4
Werner syndrome	4
West syndrome	4
Williams syndrome	4
Wilson disease	4
Wiskott-Aldrich syndrome	4
Wolf-Hirschhorn syndrome	4
Wrinkly skin syndrome	4
X-linked Charcot-Marie-Tooth disease, type 1	4
X-linked Charcot-Marie-Tooth disease, type 3	4
X-linked agammaglobulinemia	4
X-linked centronuclear myopathy	4
X-linked dominant chondrodysplasia punctata	4
X-linked myopathy with excessive autophagy	4
X-linked spastic paraplegia, type 2	4
Xanthomatosis cerebrotendinous	4
Xeroderma pigmentosum	4
LCAT deficiency	5
Tangier disease	5
Schwartz-Jampel syndrome	6
Stuve-Wiedemann dysplasia	6
Hypodontia - dysplasia of nails	7
Odonto-onycho-dermal dysplasia	7
Hyperlipoproteinemia type 1	8
Hyperlipoproteinemia, type 4	8
Familial hemophagocytic lymphohistiocytosis	9
Omenn syndrome	9
Glucocorticoid deficiency, familial	10
Triple A syndrome	10
Hypomagnesemia with normocalciuria	11
Isolated dominant hypomagnesemia	11
Familial dysautonomia	12
Hereditary sensory and autonomic neuropathy, type 4	12
Methylmalonicaciduria, vitamin B12 unresponsive	13
Motor and cognitive disorder due to sepiapterin reductase deficiency	13
Glucose-galactose malabsorption	14
Renal glucosuria	14
Krabbe disease	15
Succinyl-CoA acetoacetate transferase deficiency	15
Alstroem syndrome	16
Insulin-resistance syndrome, type A	16
Glutathione synthetase deficiency	17
Hemolytic anemia due to glutathione reductase deficiency	17
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	18
Pseudoxanthoma elasticum	18
Cholestasis, progressive familial intrahepatic 2	19
Cholestasis, progressive familial intrahepatic, type 1	19
Adrenoleukodystrophy, X-linked	20
Chondrodysplasia punctata, rhizomelic type	20
Refsum disease	20
Refsum disease, infantile form	20
Zellweger syndrome	20
Aicardi-Goutieres syndrome	21
CACH syndrome	21
Mayer-Rokitansky-Kuester-Hauser syndrome	22
Mullerian aplasia	22
CADASIL syndrome	23
Hemiplegic migraine, familial or sporadic	23
Benign familial epilepsy of childhood with rolandic spikes	24
Epilepsy, lateral temporal lobe, autosomal dominant	24
Autosomal dominant hyper IgE syndrome	25
Autosomal recessive hyper IgE syndrome	25
Pontocerebellar hypoplasia type 1	26
Pontocerebellar hypoplasia type 2	26
Autosomal recessive spondylocostal dysostosis	27
Craniometaphyseal dysplasia	27
Chondrocalcinosis, familial articular	28
Gitelman syndrome	28
Methylcobalamin deficiency type cbl E	29
Methylcobalamin deficiency, cbl G type	29
Clouston syndrome	30
Keratoderma palmoplantar - deafness	30
Fructose intolerance	31
Fructosuria	31
Autosomal recessive spastic paraplegia, type 11	32
Autosomal recessive spastic paraplegia, type 15	32
Autosomal dominant Charcot-Marie-Tooth disease, type 2A1	33
Autosomal dominant Charcot-Marie-Tooth disease, type 2A2	33
Acro-renal-ocular syndrome	34
BOR syndrome	34
Blepharophimosis - epicanthus inversus - ptosis	34
Branchio-oculo-facial syndrome	34
Duane syndrome	34
Langer mesomelic dysplasia	34
Otofaciocervical syndrome	34
Papillo-renal syndrome	34
Stargardt disease	34
Stickler syndrome	34
Wagner disease	34
Congenital fiber-type disproportion myopathy	35
Distal monosomy 1p36	35
Microlissencephaly	36
Miller-Dieker syndrome	36
Cortical dysplasia - focal epilepsy syndrome	37
Pitt-Hopkins syndrome	37
Joubert syndrome	38
Smith-Magenis syndrome	38
Bifunctional enzyme deficiency	39
Pseudoadrenoleukodystrophy	39
Hypoparathyroidism - deafness - renal disease	40
Hypoparathyroidism, familial, isolated	40
Hypotrichosis simplex	41
Monilethrix	41
GRACILE syndrome	42
Hypergonadotropic ovarian dysgenesis	42
Hereditary neuralgic amyotrophy	43
Hereditary neuropathy with liability to pressure palsies	43
Glycogen storage disease due to liver phosphorylase deficiency	44
Glycogen storage disease due to phosphorylase kinase deficiency	44
ATP synthetase deficiency	45
Alpers syndrome	45
Lafora disease	45
Mitochondrial encephalomyopathy aminoacidopathy	45
Unverricht-Lundborg disease	45
Congenital analbuminemia	46
Congenital deficiency in alpha-fetoprotein	46
Dyskeratosis congenita	47
Melorheostosis	47
Deafness, autosomal dominant, nonsyndromic, sensorineural, type DFNA	48
Proximal myotonic myopathy	48
Keratoderma hereditarium mutilans	49
Vohwinkel syndrome - ichthyosis	49
Ataxia, familial paroxysmal	50
Hereditary continuous muscle fiber activity	50
Alkaptonuria	51
Hyperparathyroidism, primary, familial	51
Hypocalciuric hypercalcemia, familial	51
Dandy-Walker malformation, isolated	52
Ellis Van Creveld syndrome	52
Jeune syndrome	52
Greig syndrome	53
Polydactyly postaxial	53
Townes-Brocks syndrome	53
Dihydropyrimidine dehydrogenase deficiency	54
Dihydropyrimidinuria	54
Microvillous inclusion disease	54
Burkitt lymphoma	55
Chronic myeloid leukemia	55
Gastrointestinal stromal tumor	55
Isolated scaphocephaly	56
Neurometabolic disorder due to serine deficiency	56
Pycnodysostosis	56
Goldberg-Shprintzen megacolon syndrome	57
Mowat-Wilson syndrome	57
Ondine syndrome	57
Arginine:glycine amidinotransferase deficiency	58
Guanidinoacetate methyltransferase deficiency	58
Intellectual deficit, X-linked, with seizures, short stature and midface hypoplasia	58
Naxos disease	59
Woolly hair	59
Woolly hair - palmoplantar keratoderma - dilated cardiomyopathy	59
Lissencephaly due to LIS1 mutation	60
Lissencephaly, type 1, due to doublecortin (DCX) gene mutation	60
Nodular neuronal heterotopia	60
Darier disease	61
Pachyonychia congenita	61
White sponge nevus	61
Arthrogryposis, lethal - anterior horn cell disease	62
Autosomal recessive multiple pterygium syndrome	62
COFS syndrome	62
Contracture syndrome, lethal, congenital type 1	62
Fetal akinesia sequence	62
Neurogenic arthrogryposis multiplex congenita	62
Bicuspid aortic valve	63
Familial aortic dissection	63
Hypoplastic left heart syndrome	63
Autosomal recessive limb-girdle muscular dystrophy, type 2H	64
Autosomal recessive limb-girdle muscular dystrophy, type 2I	64
Dysequilibrium syndrome	64
Multiple epiphyseal dysplasia due to collagen 9 anomaly	65
Multiple epiphyseal dysplasia, type 1	65
Multiple epiphyseal dysplasia, type 4	65
Adult-onset proximal spinal muscular atrophy, autosomal dominant	66
Kennedy disease	66
Proximal spinal muscular atrophy	66
Erythrokeratodermia, progressive symmetric	67
Greither's disease	67
Keratosis palmoplantaris striata	67
Neuropathy with hearing impairment	67
Palmoplantar hyperkeratosis, localized, epidermolytic	67
Schopf-Schulz-Passarge syndrome	67
Thost-Unna palmoplantar keratoderma	67
Atelosteogenesis I	68
Atelosteogenesis, type II	68
Atelosteogenesis, type III	68
Acromesomelic dysplasia, Hunter-Thomson type	69
Acromesomelic dysplasia, Maroteaux type	69
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis	69
Hypomagnesemia caused by selective magnesium malabsorption	69
Aplasia of lacrimal and salivary glands	70
EEC syndrome	70
Lacrimo-auriculo-dento-digital syndrome	70
Zlotogora-Ogur syndrome	70
3-methylglutaconic aciduria, type 1	71
3-methylglutaconic aciduria, type 3	71
Barth syndrome	71
Dilated cardiomyopathy with ataxia	71
Generalized pseudohypoaldosteronism type 1	72
Hyperaldosteronism, familial, type 1	72
Pseudohypoaldosteronism, type 2	72
Renal pseudohypoaldosteronism type 1	72
6-pyruvoyl-tetrahydropterin synthase deficiency	73
Dehydratase deficiency	73
Dihydropteridine reductase deficiency	73
Folate malabsorption, hereditary	73
Amelogenesis imperfecta, hypocalcified type	74
Amelogenesis imperfecta, hypomaturation type	74
Amelogenesis imperfecta, hypoplastic type	74
Dentinogenesis imperfecta	74
Primary lateral sclerosis	74
Autosomal dominant Charcot-Marie-Tooth disease, type 2B	75
Autosomal dominant Charcot-Marie-Tooth disease, type 2D	75
Autosomal dominant spastic paraplegia, type 17	75
Distal hereditary motor neuropathy, type 2	75
Distal hereditary motor neuropathy, type 5	75
CDG syndrome, type IIa	76
CDG syndrome, type Ia	76
CDG syndrome, type Ib	76
CDG syndrome, type Ic	76
CDG syndrome, type Id	76
CDG syndrome, type Ik	76
Dyskinesia, paroxysmal non-kinesigenic	77
Dystonia, primary, DYT6 type	77
Early onset torsion dystonia	77
Myoclonic dystonia	77
Silver-Russell syndrome	77
Tourette syndrome	77
Corpus callosum dysgenesis, X-linked recessive	78
FG syndrome	78
Fried syndrome	78
Intellectual deficit, X-linked, Cabezas type	78
Intellectual deficit, X-linked, Raymond type	78
Intellectual deficit, X-linked, South African type	78
Parietal foramina	78
Anophthalmia - Microphthalmia, isolated	79
Anophthalmia/microphthalmia - esophageal atresia	79
Bakrania-Ragge syndrome	79
Colobomatous microphthalmia	79
Matthew-Wood syndrome	79
Midas syndrome	79
Oculofaciocardiodental syndrome	79
Syndromic microphthalmia due to OTX2 mutation	79

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)

Orphan diseases network

11. Diseases network - All diseases, edge as shared document