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
Idiopathic and/or familial pulmonary arterial hypertension	0
Pulmonary venoocclusive disease	0
Holt-Oram syndrome	1
Schinzel syndrome	1
Alexander disease	2
Bjoernstad syndrome	2
Coenzyme Q cytochrome c reductase deficiency	2
GRACILE syndrome	2
Leigh syndrome	2
Leucinosis	2
NADH-CoQ reductase deficiency	2
Pyruvate dehydrogenase deficiency	2
Saguenay-Lac-St	2
Succinate CoQ reductase deficiency	2
Atypical Rett syndrome	3
Intellectual deficit, X-linked - psychosis - macroorchidism	3
Rett syndrome	3
Dyskeratosis congenita	4
Idiopathic aplastic anemia	4
Progressive pancytopenia - immunodeficiency - cerebellar hypoplasia	4
Retinopathy - anemia- central nervous system anomalies	4
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis	5
Hypomagnesemia with normocalciuria	5
Alagille syndrome	6
Tetralogy of Fallot	6
Lymphedema - distichiasis	7
Yellow nail syndrome	7
Atrial fibrillation, familial	8
Brugada syndrome	8
Jervell and Lange-Nielsen syndrome	8
Long QT syndrome, familial	8
Short QT syndrome, familial	8
Atelosteogenesis I	9
Atelosteogenesis, type III	9
Boomerang dysplasia	9
Humerospinal dysostosis	9
Larsen syndrome	9
Spondyloepiphyseal dysplasia	9
Spondyloepiphyseal dysplasia, Kimberley type	9
Synspondylism	9
Osteopetrosis, autosomal dominant, type 1	10
Osteosclerosis, autosomal dominant, Worth type	10
Fuhrmann syndrome	11
Phocomelia, Schinzel type	11
Autosomal dominant severe congenital neutropenia	12
Neutropenia cyclic	12
Neutropenia, idiopathic, adult form	12
Hypodontia	13
Odonto-onycho-dermal dysplasia	13
Schopf-Schulz-Passarge syndrome	13
Acrocallosal syndrome, Schinzel type	14
Greig syndrome	14
Pallister-Hall syndrome	14
Polydactyly postaxial	14
Polydactyly, preaxial	14
Bifunctional enzyme deficiency	15
Pseudo-Zellweger syndrome	15
Benign familial infantile seizures	16
Benign familial neonatal seizures	16
Glioblastoma	17
Meningioma	17
Oligodendroglioma	17
Conotruncal heart malformations	18
Heterotaxia	18
Monosomy 22q11	18
Transposition of the great arteries	18
Adrenoleukodystrophy, neonatal	19
Refsum disease, infantile form	19
Zellweger syndrome	19
CHARGE syndrome	20
Eunuchoidism familial	20
Kallmann syndrome	20
Normosmic congenital hypogonadotropic hypogonadism	20
Congenital adrenal hyperplasia	21
Hypoaldosteronism, familial	21
Stein-Leventhal syndrome	21
Hyperthyroidism, familial, due to mutations in TSH receptor	22
Hypothyroidism, congenital	22
Hyperprolinemia type I	23
Schizophrenia	23
Bronchopneumopathy, chronic, due to TAP deficiency	24
Immunodeficiency by defective expression of HLA class 1	24
Aortic aneurysm syndrome, Loeys-Dietz type	25
Classic Ehlers-Danlos syndrome	25
Colon cancer, familial nonpolyposis	25
Ectopia lentis isolated	25
Ehlers-Danlos syndrome, type 3	25
Ehlers-Danlos syndrome, type 4	25
Ehlers-Danlos syndrome, type 7	25
Marfan syndrome	25
Muir-Torre syndrome	25
Osteogenesis imperfecta	25
Weill-Marchesani syndrome	25
Corneal dystrophy	26
Corneal dystrophy, endothelial fuchs type	26
Keratoconus, isolated	26
Beckwith-Wiedemann syndrome	27
Sotos syndrome	27
Weaver syndrome	27
Excessive growth - learning disabilities - facial dysmorphism	28
Neurofibromatosis - Noonan syndrome	28
Neurofibromatosis type 1	28
Watson syndrome	28
Congenital factor V deficiency	29
Resistance to activated protein C	29
Creutzfeldt-Jakob disease	30
Gerstmann-Straussler-Scheinker syndrome	30
Nystagmus, idiopathic, congenital	31
Ocular albinism, X-linked recessive	31
ABCD syndrome	32
Hirschsprung disease	32
Neuroblastoma	32
Ondine syndrome	32
Waardenburg-Shah syndrome	32
Keratosis palmoplantaris striata	33
Woolly hair - palmoplantar keratoderma - dilated cardiomyopathy	33
Osteosarcoma	34
Retinoblastoma	34
Haim-Munk syndrome	35
Papillon-Lefevre syndrome	35
Radio-ulnar synostosis	36
Radio-ulnar synostosis - amegakaryocytic thrombocytopenia	36
Familial hematuria, autosomal dominant - retinal arteriolar tortuosity - contractures	37
Porencephaly	37
Familial cold urticaria	38
Muckle-Wells syndrome	38
Renal tubular acidosis, proximal, pure, familial	39
Renal tubular acidosis, proximal, with ocular abnormalities and intellectual deficit	39
Congenital bilateral absence of vas deferens	40
Cystic fibrosis	40
Hereditary chronic pancreatitis	40
Melanoma-pancreatic cancer, syndrome	41
Pancreatic carcinoma, familial	41
Achromatopsia	42
Aland Island eye disease	42
Bardet-Biedl syndrome	42
Choroidal dystrophy, central areolar	42
Clouston syndrome	42
Cone rod dystrophy	42
Cutis laxa, dominant type	42
Cutis laxa, recessive type 1	42
Deafness, autosomal dominant, nonsyndromic, sensorineural, type DFNA	42
Deafness, autosomal recessive, nonsyndromic, sensorineural, type DFNB	42
Duchenne and Becker muscular dystrophy	42
Goldmann-Favre syndrome	42
Greither's disease	42
Gusher syndrome	42
Joubert syndrome	42
Keratoderma palmoplantar - deafness	42
Laurence-Moon syndrome	42
Leber amaurosis, congenital	42
Macular degeneration, age-related	42
McKusick-Kaufman, syndrome	42
Meckel syndrome	42
Medullary cystic kidney disease, autosomal recessive	42
Meniere disease	42
Neuropathy with hearing impairment	42
Night blindness, stationary, congenital	42
Nonsyndromic genetic deafness	42
Pendred syndrome	42
Progressive cone dystrophy	42
Retinitis pigmentosa	42
Retinitis punctata albescens	42
Senior-Loken syndrome	42
Stargardt disease	42
Usher syndrome	42
Bernard-Soulier syndrome	43
Pseudo-Von Willebrand disease	43
Arthrogryposis, lethal - anterior horn cell disease	44
Contracture syndrome, lethal, congenital type 1	44
Adult-onset proximal spinal muscular atrophy, autosomal dominant	45
Alzheimer disease, familial	45
Amyotrophic lateral sclerosis	45
Atrial cardiomyopathy with heart block	45
Autosomal dominant limb-girdle muscular dystrophy, type 1B	45
Autosomal recessive limb-girdle muscular dystrophy, type 2J	45
Barth syndrome	45
Cardiac conduction defect, familial	45
Cardiomyopathy, familial dilated	45
Cardiomyopathy, hypertrophic, primary or idiopathic	45
Cerebral hemorrhage with amyloidosis, hereditary	45
Emery-Dreifuss muscular dystrophy	45
Frontotemporal dementia	45
Hereditary myopathy with early respiratory failure	45
Histiocytosis, sea-blue	45
Hyaline body myopathy	45
Hyperlipidemia type 3	45
Left ventricular noncompaction	45
Pick disease of brain	45
Primary lateral sclerosis	45
Restrictive cardiomyopathy, idiopathic or familial	45
Supranuclear palsy, progressive	45
Tibial muscular dystrophy	45
Wolff-Parkinson-White syndrome	45
Chondrosarcoma	46
Exostoses, multiple	46
Langer-Giedion syndrome	46
Parietal foramina	46
Potocki-Shaffer syndrome	46
Trichorhinophalangeal syndrome, type 1 and 3	46
Alopecia universalis	47
Atrichia with papular lesions	47
Thrombocytopenia, X-linked	48
Wiskott-Aldrich syndrome	48
X-linked severe congenital neutropenia	48
Gaucher disease - ophthalmoplegia - cardiovascular calcification	49
Gaucher disease, type 1	49
Gaucher disease, type 2	49
Gaucher disease, type 3	49
Perinatal-lethal Gaucher disease	49
Desmoid disease	50
Familial adenomatous polyposis	50
Gastric cancer, familial	50
Medulloblastoma	50
Avascular necrosis of femoral head, familial form	51
Legg-Calve-Perthes disease	51
Exudative retinopathy, familial	52
Norrie disease	52
Peters anomaly	53
Rieger syndrome	53
Rieger-Axenfeld anomaly	53
Familial aortic dissection	54
Thoracic aortic aneurysm, familial form	54
Chronic pneumonitis of infancy	55
Pulmonary alveolar proteinosis	55
Pulmonary fibrosis, idiopathic	55
Respiratory bronchiolitis - interstitial lung disease	55
Cholestasis, progressive familial intrahepatic 3	56
Intrahepatic cholestasis of pregnancy	56
Bannayan-Riley-Ruvalcaba syndrome	57
Cowden syndrome	57
Juvenile gastrointestinal polyposis	57
Juvenile polyposis of infancy	57
Proteus syndrome	57
Dowling-Degos disease	58
Epidermolysis bullosa simplex with mottled pigmentation	58
Epidermolysis bullosa simplex, Dowling-Meara type	58
Epidermolysis bullosa simplex, Koebner type	58
Epidermolysis bullosa simplex, autosomal recessive	58
Erythroderma, congenital ichthyosiform, bullous	59
Ichthyosis hystrix	59
Ichthyosis hystrix, Curth-Macklin type	59
Polycystic kidney disease, autosomal dominant, type 1, with tuberous sclerosis	60
Tuberous sclerosis	60
Epidermolysis bullosa simplex superficialis	61
Epidermolysis bullosa, dystrophic	61
Aicardi-Goutieres syndrome	62
Lupus, chilblain	62
3-hydroxyacyl-CoA dehydrogenase, short chain, deficiency of	63
Intellectual deficit, X-linked - choreoathetosis - abnormal behavior	63
Apert syndrome	64
Crouzon disease	64
Jackson-Weiss syndrome	64
Pfeiffer syndrome	64
Benign recurrent intrahepatic cholestasis	65
Cholestasis, progressive familial intrahepatic, type 1	65
Albright hereditary osteodystrophy	66
Ectopic ossification, familial type	66
Pseudohypoparathyroidism, type 1C	66
Pseudopseudohypoparathyroidism	66
Crohn disease	67
Ulcerative colitis	67
Hawkinsinuria	68
Tyrosinemia, type 3	68
Glycogen storage disease due to phosphorylase kinase deficiency	69
Glycogen storage disease, type 9	69
Muscular phosphorylase kinase deficiency	69
Dravet syndrome	70
Epilepsy, childhood absence	70
Generalized epilepsy with febrile seizures-plus context	70
Juvenile myoclonic epilepsy	70
Hypergonadotropic ovarian dysgenesis	71
Premature ovarian failure	71
Albers-Schonberg osteopetrosis	72
Autosomal recessive malignant osteopetrosis	72
Ataxia, familial paroxysmal	73
Hemiplegic migraine, familial or sporadic	73
Atrial myxoma, familial	74
Carney complex	74
Trismus - pseudocamptodactyly	74
Autosomal dominant Charcot-Marie-Tooth disease, type 2F	75
Distal hereditary motor neuropathy, type 2	75
Encephalopathy due to prosaposin deficiency	76
Metachromatic leukodystrophy	76
Hemochromatosis, adult form	77
Hemochromatosis, juvenile form	77
Porphyria, Variegata	77
Angio-osteohypertrophic syndrome	78
Capillary malformation-arteriovenous malformation	78
Atrioventricular canal, complete	79
Atrioventricular canal, partial	79
Hypoplastic left heart syndrome	79
Alport syndrome	80
Diffuse leiomyomatosis - Alport syndrome X-linked	80
Charcot-Marie-Tooth disease, type 1D	81
Charcot-Marie-Tooth disease, type 4E	81
Autosomal dominant Charcot-Marie-Tooth disease, type 2I	82
Charcot-Marie-Tooth disease, type 1B	82
Roussy-Levy syndrome	82
Charcot-Marie-Tooth disease, type 1A	83
Charcot-Marie-Tooth disease, type 1E	83
Guillain-Barre syndrome	83
Hereditary neuropathy with liability to pressure palsies	83
Cataract with Y-shaped suture opacities	84
Cataract, Coppock-like	84
Cataract, cerulean	84
Cataract, nuclear	84
Cataract, pulverulent	84
Cataract, zonular	84
Non-syndromic congenital cataract	84
Autosomal dominant optic atrophy, OPA1 type	85
Deafness-optic atrophy syndrome	85
Optic atrophy	85
Lissencephaly due to LIS1 mutation	86
Miller-Dieker syndrome	86
Blepharospasm	87
Cervical dystonia	87
Neurofibromatosis type 2	88
Neurofibromatosis, type 3	88
Rhabdoid tumor	88
Brachydactyly, type A2	89
Brachydactyly, type B2	89
Brachydactyly, type C	89
Multiple synostoses	89
Symphalangism, proximal	89
COFS syndrome	90
Cockayne syndrome	90
De Sanctis-Cacchione syndrome	90
PIBIDS syndrome	90
UV-sensitive syndrome	90
Xeroderma pigmentosum	90
Autosomal recessive limb-girdle muscular dystrophy, type 2B	91
Distal myopathy with anterior tibial onset	91
Miyoshi myopathy	91
Autosomal dominant hypohidrotic ectodermal dysplasia	92
Christ-Siemens-Touraine syndrome	92
Ectodermal dysplasia, hypohidrotic, autosomal recessive	92
Erythroderma, congenital ichthyosiform, nonbullous	93
Ichthyosis, lamellar	93
Neutral lipid storage disease	93
Pontocerebellar hypoplasia type 2	94
Pontocerebellar hypoplasia type 4	94
Achondroplasia	95
Camptodactyly - tall stature - scoliosis - hearing loss	95
Crouzon syndrome - acanthosis nigricans	95
Hypochondroplasia	95
Lacrimo-auriculo-dento-digital syndrome	95
Muenke syndrome	95
Saethre-Chotzen syndrome	95
Severe achondroplasia - developmental delay - acanthosis nigricans	95
Thanatophoric dwarfism, type I	95
Thanatophoric dwarfism, type II	95
Central core disease	96
Malignant hyperthermia	96
Leber hereditary optic neuropathy	97
Striatonigral degeneration, infantile	97
Dystonia-parkinsonism, Paisan-Ruiz type	98
Hyperferritinemia, hereditary, with congenital cataracts	98
Infantile neuroaxonal dystrophy	98
Neurodegeneration with brain iron accumulation	98
Neuroferritinopathy	98
Marshall syndrome	99
Otospondylomegaepiphyseal dysplasia	99
Stickler syndrome	99
Weissenbacher- Zweymuller syndrome	99
Breast cancer, familial	100
Denys-Drash syndrome	100
Fanconi anemia	100
Frasier syndrome	100
Leukemia, lymphoblastic, acute	100
Li-Fraumeni syndrome	100
Nephroblastoma	100
Prostate cancer, familial	100
VACTERL with hydrocephalus	100
WAGR syndrome	100
Arrhythmogenic right ventricular dysplasia	101
Catecholinergic polymorphic ventricular tachycardia	101
ZASP-related myofibrillar myopathy	101
Microcephalic osteodysplastic primordial short stature, type 2	102
Seckel syndrome	102
Albinism ocular - late onset sensorineural deafness	103
Oculocutaneous albinism	103
Waardenburg syndrome type 2	103
Epstein syndrome	104
Fechtner syndrome	104
May-Hegglin thrombocytopenia	104
Sebastian syndrome	104
Hyperparathyroidism - jaw tumor syndrome (HPT-JT)	105
Hyperparathyroidism, familial, isolated (FIHPT)	105
Hyperparathyroidism, primary, familial	105
Multiple endocrine neoplasia type 1	105
Colobomatous microphthalmia	106
Gorlin syndrome	106
Holoprosencephaly	106
Ocular coloboma	106
Solitary median maxillary central incisor syndrome	106
Cleft lip with or without cleft palate	107
Pterygium popliteal syndrome, autosomal dominant	107
Van Der Woude syndrome	107
Anophthalmia - Microphthalmia, isolated	108
Syndromic microphthalmia due to OTX2 mutation	108
Multiple endocrine neoplasia, type 2	109
Pheochromocytoma and secreting paraganglioma	109
Renal cell carcinoma, familial	109
Thyroid carcinoma, medullary	109
Von Hippel-Lindau disease	109
Autosomal recessive multiple pterygium syndrome	110
Multiple pterygium syndrome, lethal form	110
Frontometaphyseal dysplasia	111
Osteodysplasty, Melnick-Needles type	111
Otopalatodigital syndrome, type 1	111
Otopalatodigital syndrome, type 2	111
Dentin dysplasia	112
Dentinogenesis imperfecta	112
Defective apolipoprotein B-100, familial	113
Hypercholesterolemia, familial	113
GM1 gangliosidosis	114
Mucopolysaccharidosis type 4	114
Hyperkalemic periodic paralysis	115
Hypokalemic periodic paralysis	115
Paramyotonia congenita of Von Eulenburg	115
Potassium aggravated myotonia	115
Thyrotoxic periodic paralysis	115
BOR syndrome	116
Branchio-otic syndrome	116
3-hydroxyacyl-CoA dehydrogenase, long chain, deficiency of	117
Mitochondrial trifunctional protein deficiency	117
Myelofibrosis with myeloid metaplasia	118
Polycythemia vera	118
Thrombocythemia, essential	118
Bethlem myopathy	119
Congenital muscular dystrophy, Ullrich type	119
Aniridia	120
Foveal hypoplasia - presenile cataract	120
ADULT syndrome	121
Ankyloblepharon - ectodermal defects - cleft lip palate	121
EEC syndrome	121
Limb-mammary syndrome	121
Rapp-Hodgkin syndrome	121
Split hand - split foot	121
Common variable immunodeficiency	122
Immunoglobulin A deficiency	122
Dermatopathia pigmentosa reticularis	123
Naegeli-Franceschetti-Jadassohn syndrome	123
Dysplasia, mandibuloacral with type A lipodystrophia	124
Progeria	124
Werner syndrome	124
Acrofacial dysostosis, Weyers type	125
Ellis Van Creveld syndrome	125
Cutis laxa, recessive type 2	126
Geroderma osteodysplastica	126
Wrinkly skin syndrome	126
Pelizaeus-Merzbacher disease	127
X-linked spastic paraplegia, type 2	127
Autosomal dominant Charcot-Marie-Tooth disease, type 2A2	128
Hereditary motor and sensory neuropathy, type 6	128
Craniofacial-deafness-hand syndrome	129
Waardenburg syndrome type 1	129
Waardenburg syndrome type 3	129
Epidermolysis bullosa simplex - limb girdle muscular dystrophy	130
Epidermolysis bullosa simplex - pyloric atresia	130
Basal ganglia disease, biotin-responsive	131
Thiamine-responsive encephalopathy	131
Beta-thalassemia	132
Heinz body anemia	132
Sickle cell anemia	132
Hyaline fibromatosis, juvenile	133
Hyalinosis, infantile systemic	133
FG syndrome	134
Intestinal pseudoobstruction, chronic, idiopathic	134
Nodular neuronal heterotopia	134
Lissencephaly, X-linked - agenesis of the corpus callosum - genital anomalies	135
Micrencephaly - corpus callosum agenesis - abnormal genitalia	135
Partington syndrome	135
West syndrome	135
Diabetes mellitus, neonatal	136
MODY syndrome	136
Persistent hyperinsulinemic hypoglycemia of infancy	136
Autosomal recessive limb-girdle muscular dystrophy, type 2I	137
Congenital muscular dystrophy, type 1C	137
Muscle eye brain disease	137
Muscular dystrophy, Fukuyama type	137
Walker-Warburg syndrome	137
Hyperlysinemia	138
Saccharopinuria	138
Supravalvar aortic stenosis	139
Williams syndrome	139
Hyperimmunoglobinemia D with recurrent fever	140
Mevalonicaciduria	140
Homocystinuria due to methylenetetrahydrofolate reductase deficiency	141
Neural tube defect	141
Glaucoma, congenital	142
Glaucoma, hereditary	142
Mitochondrial DNA depletion syndrome	143
Myoneurogastrointestinal encephalopathy syndrome	143
Hyperparathyroidism, neonatal severe, primary	144
Hypocalciuric hypercalcemia, familial	144
Hypoparathyroidism, familial, isolated	144
Hypotrichosis simplex	145
Woolly hair	145
Atelosteogenesis, type II	146
Diastrophic dwarfism	146
Autosomal dominant Charcot-Marie-Tooth disease, type 2D	147
Distal hereditary motor neuropathy, type 5	147
Alpers syndrome	148
Ataxia, mitochondrial recessive, syndrome	148
Progressive external ophthalmoplegia	148
Sensory ataxic neuropathy - dysarthria - ophthalmoparesis	148
Alpha-thalassemia	149
Hemoglobin H disease	149
Elliptocytosis, hereditary	150
Renal tubular acidosis, distal	150
Spherocytosis hereditary	150
Elejalde syndrome	151
Griscelli disease	151
Amelogenesis imperfecta, hypomaturation-hypoplastic with taurodontism	152
Tricho-dento-osseous syndrome	152
Fragile X syndrome	153
Fragile X-associated tremor/ataxia syndrome	153
Cylindromatosis, familial	154
Trichoepithelioma multiple, familial	154
Mucolipidosis type 2	155
Mucolipidosis type 3	155
Familial dementia, British type	156
Familial dementia, Danish type	156
Reducing body myopathy	157
Scapuloperoneal amyotrophy	157
Autosomal dominant limb-girdle muscular dystrophy, type 1C	158
Rippling muscle disease	158
Dyskinesia, paroxysmal exertion-induced	159
Encephalopathy due to GLUT1 deficiency	159
Brachydactyly-syndactyly, Zhao type	160
Syndactyly, type 5	160
Brachydactyly, type D	161
Brachydactyly, type E	161
Late infantile neuronal ceroid lipofuscinosis	162
Progressive epilepsy-intellectual deficit, Finnish type	162
Kenny-Caffey syndrome, autosomal recessive	163
Sanjad-Sakati syndrome	163
Hydrocephalus due to stenosis of aqueduct of Sylvius	164
MASA syndrome	164
Atypical hemolytic uremic syndrome	165
Atypical hemolytic uremic syndrome with I factor anomaly	165
Cardiofaciocutaneous syndrome	166
LEOPARD syndrome	166
Noonan syndrome	166
Aromatase deficiency	167
Aromatase excess syndrome	167
Menkes disease	168
Occipital horn syndrome	168
Autosomal recessive spastic paraplegia, type 5A	169
Bile acid synthesis defect, congenital, type 3	169
Buschke-Ollendorff syndrome	170
Melorheostosis	170
Multiple epiphyseal dysplasia, type 1	171
Pseudoachondroplasia	171
Digitotalar dysmorphism	172
Freeman-Sheldon syndrome	172
Sheldon-Hall syndrome	172
Oculodentodigital dysplasia	173
Syndactyly, type 3	173
Epidermolysis bullosa, junctional, Herlitz type	174
Epidermolysis bullosa, junctional, non-Herlitz type	174
Early onset torsion dystonia	175
Myoclonic dystonia	175
Agammaglobulinemia, alymphocytotic type	176
Omenn syndrome	176
Crigler-Najjar syndrome	177
Gilbert syndrome	177
Dyggve-Melchior-Clausen disease	178
Smith-McCort dysplasia	178
Langer mesomelic dysplasia	179
Leri-Weill dyschondrosteosis	179
Proximal myotonic myopathy	180
Steinert myotonic dystrophy	180
Asperger syndrome	181
Autism	181
Alpha-cristallinopathy	182
Cataract, posterior polar	182
Cataract-glaucoma	182
Ocular anterior segment mesenchymal dysgenesis, familial	182

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

12. Diseases network - All diseases, edge as shared document and shared gene