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 |
Late infantile neuronal ceroid lipofuscinosis | 0 |
Neuronal ceroid lipofuscinosis | 0 |
Achromatopsia | 1 |
Alzheimer disease, familial | 1 |
Amyotrophic lateral sclerosis | 1 |
Anophthalmia - Microphthalmia, isolated | 1 |
Arrhythmogenic right ventricular dysplasia | 1 |
Atrial fibrillation, familial | 1 |
Autosomal dominant Charcot-Marie-Tooth disease, type 2 | 1 |
Autosomal dominant cerebellar ataxia | 1 |
Bardet-Biedl syndrome | 1 |
Bartter syndrome | 1 |
Cardiomyopathy, familial dilated | 1 |
Cardiomyopathy, hypertrophic, primary or idiopathic | 1 |
Cataract, cerulean | 1 |
Cataract, posterior polar | 1 |
Cataract, pulverulent | 1 |
Cataract, zonular | 1 |
Charcot-Marie-Tooth disease, type 1 | 1 |
Coenzyme Q cytochrome c reductase deficiency | 1 |
Colon cancer, familial nonpolyposis | 1 |
Cone rod dystrophy | 1 |
Conotruncal heart malformations | 1 |
Cutis laxa | 1 |
Deafness, autosomal dominant, nonsyndromic, sensorineural, type DFNA | 1 |
Deafness, autosomal recessive, nonsyndromic, sensorineural, type DFNB | 1 |
Dejerine-Sottas syndrome | 1 |
Emery-Dreifuss muscular dystrophy | 1 |
Epidermolysis bullosa, epidermolytic | 1 |
Epidermolysis bullosa, generalized atrophic benign | 1 |
Epidermolysis bullosa, junctional | 1 |
Epidermolysis bullosa, junctional, non-Herlitz type | 1 |
Epiphyseal dysplasia multiple | 1 |
Fatal infantile cytochrome C oxidase deficiency | 1 |
Frontotemporal dementia | 1 |
Heterotaxia | 1 |
Interauricular communication | 1 |
Joubert syndrome | 1 |
Leber amaurosis, congenital | 1 |
Leber hereditary optic neuropathy | 1 |
Leigh syndrome | 1 |
Leucinosis | 1 |
Leukemia, myeloid, acute | 1 |
Long QT syndrome, familial | 1 |
MELAS syndrome | 1 |
Macular degeneration, age-related | 1 |
Meckel syndrome | 1 |
Medullary cystic kidney disease, autosomal recessive | 1 |
Monosomy 22q11 | 1 |
NADH-CoQ reductase deficiency | 1 |
Night blindness, stationary, congenital | 1 |
Non-syndromic congenital cataract | 1 |
Nonsyndromic genetic deafness | 1 |
Primary ciliary dyskinesia | 1 |
Progressive cone dystrophy | 1 |
Pyruvate dehydrogenase deficiency | 1 |
Retinitis pigmentosa | 1 |
Senior-Loken syndrome | 1 |
Situs ambiguus | 1 |
Spondyloepimetaphyseal dysplasia | 1 |
Spondyloepiphyseal dysplasia | 1 |
Stickler syndrome | 1 |
Tetralogy of Fallot | 1 |
Thoracic aortic aneurysm, familial form | 1 |
Transposition of the great arteries | 1 |
Transposition of the great arteries, right | 1 |
Usher syndrome | 1 |
Walker-Warburg syndrome | 1 |
Williams syndrome | 1 |
Adrenoleukodystrophy, neonatal | 2 |
Refsum disease, infantile form | 2 |
Zellweger syndrome | 2 |
Kallmann syndrome | 3 |
Normosmic congenital hypogonadotropic hypogonadism | 3 |
CACH syndrome | 4 |
Congenital or early infantile CACH syndrome | 4 |
Cree leukoencephalopathy | 4 |
Juvenile or adult CACH syndrome | 4 |
Late infantile CACH syndrome | 4 |
Ovarioleukodystrophy | 4 |
Congenital myasthenic syndromes | 5 |
Multiple pterygium syndrome, lethal form | 5 |
Postsynaptic congenital myasthenic syndromes | 5 |
Crigler-Najjar syndrome | 6 |
Gilbert syndrome | 6 |
Hyperbilirubinemia transient familial neonatal | 6 |
Glaucoma, congenital | 7 |
Glaucoma, hereditary | 7 |
Peters anomaly | 7 |
Hirschsprung disease | 8 |
Neuroblastoma | 8 |
Ondine syndrome | 8 |
Thyroid carcinoma, papillary or follicular | 8 |
Amyloid nephropathy, familial | 9 |
Amyloidosis | 9 |
Erythroderma, congenital ichthyosiform, nonbullous | 10 |
Ichthyosis, lamellar | 10 |
Autosomal dominant centronuclear myopathy | 11 |
Centronuclear myopathy | 11 |
Diabetes mellitus, neonatal | 12 |
Diabetes mellitus, neonatal, permanent | 12 |
MODY syndrome | 12 |
Persistent hyperinsulinemic hypoglycemia of infancy | 12 |
Breast cancer, familial | 13 |
Congenital adrenal hyperplasia | 13 |
Fanconi anemia | 13 |
Leukemia, lymphoblastic, acute | 13 |
Microcephaly, isolated congenital | 13 |
Prostate cancer, familial | 13 |
Squamous cell carcinoma of head and neck | 13 |
Mild nemaline myopathy | 14 |
Nemaline myopathy | 14 |
Sheldon-Hall syndrome | 14 |
Atypical Rett syndrome | 15 |
FG syndrome | 15 |
Rare intellectual deficit without developmental anomaly | 15 |
Cardiofaciocutaneous syndrome | 16 |
Glioblastoma | 16 |
Noonan syndrome | 16 |
Pancreatic carcinoma, familial | 16 |
Encephalopathy due to sulfite oxidase deficiency | 17 |
Hyperekplexia, hereditary | 17 |
Xanthinuria | 17 |
COFS syndrome | 18 |
Xeroderma pigmentosum | 18 |
Classic Ehlers-Danlos syndrome | 19 |
Osteogenesis imperfecta | 19 |
Oculocutaneous albinism | 20 |
Prader-Willi syndrome | 20 |
Hemochromatosis | 21 |
Porphyria | 21 |
Mitochondrial DNA depletion syndrome | 22 |
Progressive external ophthalmoplegia | 22 |
Beckwith-Wiedemann syndrome | 23 |
Silver-Russell syndrome | 23 |
Dyskeratosis congenita | 24 |
Idiopathic aplastic anemia | 24 |
Calcinosis, tumoral | 25 |
Vitamin D resistant rickets | 25 |
Atypical hemolytic uremic syndrome | 26 |
Immunodeficiency with a complement cascade protein anomaly | 26 |
Primary familial polycythemia | 27 |
Renal cell carcinoma, familial | 27 |
Cleft lip with or without cleft palate | 28 |
Split hand - split foot | 28 |
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)