Orphan disease network

Orphan diseases network

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

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 - lymphedema0
Hypohidrotic ectodermal dysplasia with immunodeficiency0
Nephrotic syndrome, idiopathic, steroid-resistant, familial1
Nephrotic syndrome, idiopathic, steroid-resistant, with focal segmental hyalinosis, familial form1
Porphyria, acute hepatic2
Porphyria, acute intermittent2
Autosomal dominant Charcot-Marie-Tooth disease, type 2E3
Autosomal dominant Charcot-Marie-Tooth disease, type 2F3
2,8 dihydroxyadenine urolithiasis4
3-hydroxyacyl-CoA dehydrogenase, long chain, deficiency of4
3-hydroxyacyl-CoA dehydrogenase, short chain, deficiency of4
3-hydroxylacyl-CoA dehydrogenase deficiency4
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency4
Aarskog-Scott syndrome4
Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia4
Acyl-CoA dehydrogenase, long chain, deficiency of4
Acyl-CoA dehydrogenase, medium chain, deficiency of4
Acyl-CoA dehydrogenase, very long chain, deficiency of4
Agammaglobulinemia, alymphocytotic type4
Aland Island eye disease4
Albers-Schonberg osteopetrosis4
Albinism ocular - late onset sensorineural deafness4
Albright hereditary osteodystrophy4
Alexander disease4
Allan-Herndon-Dudley syndrome4
Alpha thalassemia - intellectual deficit, X-linked4
Alpha-1 antitrypsin deficiency4
Alport syndrome4
Alzheimer disease, familial4
Amyotrophic lateral sclerosis4
Androgen insensitivity syndrome4
Angelman syndrome4
Angio-osteohypertrophic syndrome4
Anorchidia, bilateral4
Antley-Bixler syndrome4
Aortic aneurysm syndrome, Loeys-Dietz type4
Apert syndrome4
Apparent mineralocorticoid excess4
Aromatase deficiency4
Arterial tortuosity4
Ataxia - oculomotor apraxia, type 14
Ataxia, cerebellar, autosomal dominant, type 34
Ataxia, mitochondrial recessive, syndrome4
Ataxia, spastic, Charlevoix-Saguenay type4
Ataxia, spinocerebellar, autosomal dominant, type 74
Atrioventricular canal, complete4
Atypical hemolytic uremic syndrome4
Autoimmune lymphoproliferative syndrome4
Autoimmune polyendocrinopathy, type 14
Autosomal dominant Charcot-Marie-Tooth disease, type 2I4
Autosomal dominant centronuclear myopathy4
Autosomal dominant intermediate Charcot-Marie-Tooth disease, type B4
Autosomal dominant limb-girdle muscular dystrophy, type 1A4
Autosomal dominant optic atrophy, OPA1 type4
Autosomal dominant severe congenital neutropenia4
Autosomal dominant spastic paraplegia, type 104
Autosomal dominant spastic paraplegia, type 34
Autosomal dominant spastic paraplegia, type 44
Autosomal dominant spastic paraplegia, type 64
Autosomal recessive centronuclear myopathy4
Autosomal recessive cerebellar ataxia4
Autosomal recessive limb-girdle muscular dystrophy, type 2B4
Autosomal recessive malignant osteopetrosis4
Autosomal recessive spastic paraplegia, type 5A4
Autosomal recessive spastic paraplegia, type 74
Avascular necrosis of femoral head, familial form4
BIDS syndrome4
Baller-Gerold syndrome4
Bamforth syndrome4
Bannayan-Riley-Ruvalcaba syndrome4
Bardet-Biedl syndrome4
Bartter syndrome4
Beals syndrome4
Beckwith-Wiedemann syndrome4
Benign familial infantile seizures4
Benign familial neonatal seizures4
Bernard-Soulier syndrome4
Best disease4
Bile acid synthesis defect, congenital, type 34
Birt-Hogg-Dube syndrome4
Blackfan-Diamond disease4
Bloom syndrome4
Blue cone monochromatism4
Bosley-Salih-Alorainy syndrome4
Branchio-otic syndrome4
Breast cancer, familial4
Butyrylcholinesterase deficiency4
CDG syndrome, type IIe4
CHARGE syndrome4
CHILD syndrome4
Carbamoylphosphate synthetase deficiency4
Cardiodysrythmic potassium-sensitive periodic paralysis4
Cardiofaciocutaneous syndrome4
Cardiomyopathy - hypotonia, due to cytochrome c oxidase deficiency4
Cardiomyopathy, familial dilated4
Cardiomyopathy, hypertrophic, primary or idiopathic4
Carnitine-acylcarnitine translocase deficiency4
Cataract with Y-shaped suture opacities4
Cataract, Coppock-like4
Cataract, cerulean4
Cataract, nuclear4
Cataract, posterior polar4
Cataract, pulverulent4
Cataract, zonular4
Cataract-microcornea syndrome4
Celiac disease4
Central core disease4
Cerebral hemorrhage with amyloidosis, hereditary4
Cervical dystonia4
Charcot-Marie-Tooth disease, type 1A4
Charcot-Marie-Tooth disease, type 1B4
Charcot-Marie-Tooth disease, type 1C4
Charcot-Marie-Tooth disease, type 1D4
Charcot-Marie-Tooth disease, type 1E4
Charcot-Marie-Tooth disease, type 4A4
Charcot-Marie-Tooth disease, type 4D4
Chediak-Higashi syndrome4
Chloride diarrhea, congenital4
Chondrodysplasia punctata, brachytelephalangic4
Chorea familial, benign4
Choroidal dystrophy, central areolar4
Christ-Siemens-Touraine syndrome4
Chromosome Y deletion4
Chylomicron retention disease4
Classic Ehlers-Danlos syndrome4
Cleft lip with or without cleft palate4
Cleft palate4
Cleidocranial dysplasia4
Coats disease4
Cockayne syndrome4
Coenzyme Q 10 (CoQ10), deficiency4
Coffin-Lowry syndrome4
Cohen syndrome4
Colon cancer, familial nonpolyposis4
Combined deficiency of factor V and factor VIII4
Common variable immunodeficiency4
Complement component 2 deficiency4
Congenital adrenal hyperplasia4
Congenital cataracts - facial dysmorphism - neuropathy4
Congenital factor II deficiency4
Congenital factor V deficiency4
Congenital factor VII deficiency4
Congenital factor X deficiency4
Congenital factor XI deficiency4
Congenital insensitivity to pain4
Congenital muscular dystrophy type 1A4
Congenital muscular dystrophy, Ullrich type4
Congenital myasthenic syndromes4
Congenital prekallikrein deficiency4
Costello syndrome4
Cowden syndrome4
Craniofacial-deafness-hand syndrome4
Craniofrontonasal dysplasia4
Craniosynostosis, Boston type4
Creutzfeldt-Jakob disease4
Crohn disease4
Crouzon disease4
Crouzon syndrome - acanthosis nigricans4
Cutis laxa, dominant type4
Cutis laxa, recessive type 14
Cutis laxa, recessive type 24
Cystic fibrosis4
Deaf blind hypopigmentation syndrome, Yemenite type4
Deafness-infertility syndrome4
Defective apolipoprotein B-100, familial4
Dejerine-Sottas syndrome4
Dent syndrome4
Dentatorubral pallidoluysian atrophy4
Dermopathy restrictive, lethal4
Diabetes mellitus, neonatal4
Diabetes, neonatal - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys4
Digitotalar dysmorphism4
Distal hereditary motor neuropathy, type 14
Distal hereditary motor neuropathy, type 74
Distal myopathy with vocal cord weakness4
Distal myopathy, Nonaka type4
Dravet syndrome4
Drusen dominant4
Duchenne and Becker muscular dystrophy4
Dyserythropoietic anemia, congenital, type I4
Dyserythropoietic anemia, congenital, type II4
Dysplasia, mandibuloacral with type A lipodystrophia4
Dysplasia, mandibuloacral with type B lipodystrophy4
Dystonia-parkinsonism, Paisan-Ruiz type4
Ectopia lentis isolated4
Ehlers-Danlos syndrome, type 34
Ehlers-Danlos syndrome, type 44
Ehlers-Danlos syndrome, type 64
Ehlers-Danlos syndrome, type 74
Ehlers-Danlos syndrome, type 7C4
Elliptocytosis, hereditary4
Emery-Dreifuss muscular dystrophy4
Encephalopathy due to sulfite oxidase deficiency4
Encephalopathy, ethylmalonic4
Endocrine tumor4
Enolase deficiency4
Epidermolysis bullosa simplex - limb girdle muscular dystrophy4
Epidermolysis bullosa simplex - pyloric atresia4
Epidermolysis bullosa simplex with mottled pigmentation4
Epidermolysis bullosa simplex, Dowling-Meara type4
Epidermolysis bullosa simplex, Koebner type4
Epidermolysis bullosa simplex, autosomal recessive4
Epidermolysis bullosa, dystrophic4
Epidermolysis bullosa, junctional - pyloric atresia4
Epidermolysis bullosa, junctional, Herlitz type4
Epidermolysis bullosa, junctional, non-Herlitz type4
Epstein syndrome4
Erythroderma, congenital ichthyosiform, bullous4
Erythroderma, congenital ichthyosiform, nonbullous4
Esophageal carcinoma4
Estrogen resistance syndrome4
Exostoses, multiple4
FRAXE syndrome4
FRAXF syndrome4
Fabry disease4
Facioscapulohumeral muscular myopathy4
Familial adenomatous polyposis4
Familial amyloid polyneuropathy4
Familial mediterranean fever4
Fanconi anemia4
Fatal infantile cytochrome C oxidase deficiency4
Fetal and neonatal alloimmune thrombocytopenia4
Focal dermal hypoplasia4
Foveal hypoplasia - presenile cataract4
Fragile X syndrome4
Frasier syndrome4
Free sialic acid storage disease4
Freeman-Sheldon syndrome4
Friedreich ataxia4
Frontotemporal dementia4
GM1 gangliosidosis4
Gastric cancer, familial4
Gaucher disease, type 14
Gaucher disease, type 34
Generalized epilepsy with febrile seizures-plus context4
Genetic sideroblastic anemia4
Geroderma osteodysplastica4
Gerstmann-Straussler-Scheinker syndrome4
Glanzmann thrombasthenia4
Glaucoma, hereditary4
Glomuvenous malformation4
Glucocorticoid resistance4
Glucose-6-phosphate-dehydrogenase deficiency4
Glucosephosphate isomerase deficiency4
Glycogen storage disease due to LAMP-2 deficiency4
Glycogen storage disease type 14
Glycogen storage disease type 24
Glycogen storage disease type 34
Glycogen storage disease type 44
Gnathodiaphyseal dysplasia4
Gonadal dysgenesis, XY female type4
Gorlin syndrome4
Granulomatous disease, chronic4
Greenberg dysplasia4
Gusher syndrome4
Hashimoto struma4
Hemochromatosis, adult form4
Hemolytic anemia due to red cell pyruvate kinase deficiency4
Hereditary chronic pancreatitis4
Hereditary methemoglobinemia4
Hereditary persistence of fetal hemoglobin4
Hereditary sensory and autonomic neuropathy, type 14
Hereditary sensory and autonomic neuropathy, type 24
Hereditary sensory and autonomic neuropathy, type 54
Hermansky-Pudlak syndrome4
Hermansky-Pudlak syndrome type 24
Hirschsprung disease4
Histiocytosis, sea-blue4
Holt-Oram syndrome4
Homocystinuria due to cystathionine beta-synthase deficiency4
Homocystinuria due to methylenetetrahydrofolate reductase deficiency4
Huntington disease4
Huntington disease-like 14
Huntington disease-like 24
Hyaline body myopathy4
Hydrocephalus due to stenosis of aqueduct of Sylvius4
Hyper-IgM syndrome, type 14
Hyperandrogenism due to cortisone reductase deficiency4
Hypercholesterolemia, familial4
Hyperimmunoglobinemia D with recurrent fever4
Hyperinsulinism-hyperammonemia syndrome4
Hyperkalemic periodic paralysis4
Hyperlipidemia type 34
Hyperprolinemia type I4
Hypothyroidism, congenital4
ICF syndrome4
Ichthyosis bullosa of Siemens4
Ichthyosis congenita, harlequin type4
Ichthyosis hystrix4
Ichthyosis hystrix, Curth-Macklin type4
Ichthyosis vulgaris, autosomal dominant4
Ichthyosis, X-linked4
Ichthyosis, lamellar4
Immune dysregulation - polyendocrinopathy - enteropathy, X-linked4
Incontinentia pigmenti4
Infantile neuroaxonal dystrophy4
Intellectual deficit - epilepsy, X-linked4
Intellectual deficit, X-linked, Cantagrel type4
Intellectual deficit, X-linked, Stocco Dos Santos type4
Intellectual deficit, X-linked, Turner type4
Intellectual deficit, X-linked, syndromic, due to JARID1C mutation4
Intellectual deficit, X-linked, with isolated growth hormone deficiency4
Intestinal pseudoobstruction, chronic, idiopathic4
Isolated cloverleaf skull syndrome4
Isovaleric acidemia4
Jackson-Weiss syndrome4
Juvenile gastrointestinal polyposis4
Juvenile neuronal ceroid lipofuscinosis4
KID syndrome4
Kallmann syndrome4
Kearns-Sayre syndrome4
Keratitis, hereditary4
Keratoconus, isolated4
LEOPARD syndrome4
Lactate dehydrogenase deficiency4
Lactic acidosis, congenital4
Laing distal myopathy4
Late infantile neuronal ceroid lipofuscinosis4
Leber amaurosis, congenital4
Leber hereditary optic neuropathy4
Legg-Calve-Perthes disease4
Leigh syndrome4
Leiomyomatosis, familial4
Lesch-Nyhan syndrome4
Leukemia, B-cell lymphocytic, chronic4
Leukemia, lymphoblastic, acute4
Leukemia, myeloid, acute4
Leukocyte adhesion deficiency4
Lewy body dementia4
Li-Fraumeni syndrome4
Liddle syndrome4
Lipodystrophy, Berardinelli type4
Lipodystrophy, familial partial, Dunnigan type4
Lipoid proteinosis4
Lupus erythematosus, systemic4
Lupus, chilblain4
Lymphedema - distichiasis4
MELAS syndrome4
MULIBREY nanism4
Macular degeneration, age-related4
Malignant hyperthermia4
Marfan syndrome4
Marinesco-Sjogren syndrome4
Marshall syndrome4
May-Hegglin thrombocytopenia4
McKusick-Kaufman, syndrome4
McLeod neuroacanthocytosis syndrome4
Meckel syndrome4
Medullary cystic kidney disease, autosomal dominant, with or without hyperuricemia4
Medullary cystic kidney disease, autosomal recessive4
Melanoma, familial4
Menkes disease4
Metachromatic leukodystrophy4
Metaphyseal chondrodysplasia, Schmid type4
Methylmalonicacidemia - homocystinuria, type cbl C4
Methylmalonicacidemia - homocystinuria, type cbl D4
Microcephalic osteodysplastic primordial short stature, type 24
Microphthalmia - cataract4
Mitochondrial DNA depletion syndrome4
Miyoshi myopathy4
Mohr-Tranebjaerg syndrome4
Monosomy 22q114
Monosomy 22q134
Moyamoya disease4
Mucocutaneous venous malformations4
Mucolipidosis type 24
Mucolipidosis type 34
Mucopolysaccharidosis type 14
Mucopolysaccharidosis type 24
Mucopolysaccharidosis type 34
Mucopolysaccharidosis type 44
Mucopolysaccharidosis type 64
Multiminicore myopathy4
Multiple FAD dehydrogenase deficiency4
Multiple carboxylase deficiency4
Multiple endocrine neoplasia type 14
Multiple endocrine neoplasia, type 24
Multiple sclerosis4
Muscle eye brain disease4
Muscular dystrophy, Fukuyama type4
Muscular dystrophy, limb-girdle, autosomal recessive, type 2A4
Muscular dystrophy, limb-girdle, autosomal recessive, type 2C4
Muscular dystrophy, limb-girdle, autosomal recessive, type 2D4
Muscular dystrophy, limb-girdle, autosomal recessive, type 2E4
Muscular dystrophy, limb-girdle, autosomal recessive, type 2F4
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality4
Myelofibrosis with myeloid metaplasia4
Myoneurogastrointestinal encephalopathy syndrome4
NADH-CoQ reductase deficiency4
Naegeli-Franceschetti-Jadassohn syndrome4
Nail-patella syndrome4
Nemaline myopathy4
Nephrotic syndrome, congenital, Finnish type4
Neural tube defect4
Neurofibromatosis - Noonan syndrome4
Neurofibromatosis type 14
Neurofibromatosis type 24
Nevo syndrome4
Niemann-Pick disease4
Niemann-Pick disease, type C4
Nijmegen breakage syndrome4
Nonacquired combined pituitary hormone deficiency4
Nonacquired isolated growth hormone deficiency4
Nonsyndromic genetic deafness4
Nonsyndromic thrombocytopenia4
Noonan syndrome4
Obesity due to congenital leptin deficiency4
Obesity due to melanocortin-4 receptor deficiency4
Occipital horn syndrome4
Ocular albinism, X-linked recessive4
Ocular anterior segment mesenchymal dysgenesis, familial4
Oculocutaneous albinism4
Oculodentodigital dysplasia4
Oculopharyngeal muscular dystrophy4
Optic atrophy4
Oral-facial-digital syndrome, type 14
Ornithine carbamoyltransferase deficiency4
Osteodysplasty, Melnick-Needles type4
Osteogenesis imperfecta4
Osteoglophonic dwarfism4
Osteopetrosis with renal tubular acidosis4
Osteopetrosis, autosomal dominant, type 14
Osteoporosis - pseudoglioma4
Osteosclerotic bone dysplasia, lethal4
PIBIDS syndrome4
Pallister-Hall syndrome4
Pancreatic carcinoma, familial4
Paramyotonia congenita of Von Eulenburg4
Parkinson disease, genetic type4
Pelizaeus-Merzbacher disease4
Pendred syndrome4
Persistent hyperinsulinemic hypoglycemia of infancy4
Peters-plus syndrome4
Peutz-Jeghers syndrome4
Pfeiffer syndrome4
Pheochromocytoma and secreting paraganglioma4
Phosphoenolpyruvate carboxykinase (PEPCK) deficiency4
Pick disease of brain4
Platyspondylic dysplasia, Torrance type4
Polycystic kidney disease, autosomal dominant4
Polycystic kidney disease, autosomal recessive4
Polycythemia vera4
Porphyria cutanea tarda4
Porphyria, Variegata4
Potassium aggravated myotonia4
Potocki-Shaffer syndrome4
Prader-Willi syndrome4
Premature ovarian failure4
Primary ciliary dyskinesia4
Primary erythermalgia4
Progressive cone dystrophy4
Progressive epilepsy-intellectual deficit, Finnish type4
Progressive external ophthalmoplegia4
Propionic acidemia4
Prostate cancer, familial4
Protein C deficiency4
Proteus syndrome4
Protoporphyria, erythropoietic4
Pseudo-Von Willebrand disease4
Purine nucleoside phosphorylase deficiency4
Pyruvate dehydrogenase deficiency4
Recurrent infection due to specific granule deficiency4
Renal cell carcinoma, familial4
Renal cell carcinoma, papillary, familial4
Renal tubular acidosis, distal4
Renal tubular acidosis, proximal, pure, familial4
Renal tubular dysgenesis4
Rendu-Osler-Weber disease4
Renpenning syndrome4
Resistance to activated protein C4
Retinitis pigmentosa4
Rett syndrome4
Rieger syndrome4
Rieger-Axenfeld anomaly4
Rippling muscle disease4
Roberts syndrome/SC phocomelia4
Robinow syndrome4
Rubinstein-Taybi syndrome4
SCAD deficiency4
Saethre-Chotzen syndrome4
Sandhoff disease4
Schneckenbecken dysplasia4
Senior-Loken syndrome4
Severe achondroplasia - developmental delay - acanthosis nigricans4
Severe combined immunodeficiency due to ZAP70 deficiency4
Severe combined immunodeficiency due to adenosine deaminase deficiency4
Sheldon-Hall syndrome4
Short stature due to growth hormone resistance4
Short stature, idiopathic4
Shprintzen-Goldberg syndrome4
Shwachman-Diamond syndrome4
Sialidosis type 14
Sialuria French type4
Sickle cell anemia4
Sideroblastic anemia, X-linked4
Simpson-Golabi-Behmel syndrome4
Sjoegren-Larsson syndrome4
Smith-Lemli-Opitz syndrome4
Sorsby's fundus dystrophy4
Sotos syndrome4
Split hand - split foot4
Spondyloepiphyseal dysplasia, congenital type4
Sporadic inclusion body myositis4
Stein-Leventhal syndrome4
Steinert myotonic dystrophy4
Supranuclear palsy, progressive4
Syndactyly, type 24
Syndactyly, type 34
TRAPS syndrome4
Tay-Sachs disease4
Thanatophoric dwarfism, type I4
Thanatophoric dwarfism, type II4
Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness4
Thomsen and Becker disease4
Thrombocythemia, essential4
Thrombocytopenia - chromosome breakage4
Thrombotic thrombocytopenic purpura, congenital, due to ADAMTS-13 deficiency4
Thyroid carcinoma, papillary or follicular4
Thyrotoxic periodic paralysis4
Tibial muscular dystrophy4
Tietz syndrome4
Treacher-Collins syndrome4
Tremor hereditary essential4
Trichorhinophalangeal syndrome, type 1 and 34
Triose phosphate-isomerase deficiency4
Trismus - pseudocamptodactyly4
Tuberous sclerosis4
Usher syndrome4
VACTERL with hydrocephalus4
VATER association4
Vitamin B12 responsive methylmalonic acidemia, type cbl A4
Vitamin D resistant rickets4
Vitamin K-dependent clotting factors, combined deficiency of4
Von Hippel-Lindau disease4
Von Willebrand disease4
WAGR syndrome4
Waardenburg syndrome type 14
Waardenburg syndrome type 24
Waardenburg syndrome type 34
Waardenburg-Shah syndrome4
Watson syndrome4
Weaver syndrome4
Weissenbacher- Zweymuller syndrome4
Werner syndrome4
West syndrome4
Williams syndrome4
Wilson disease4
Wiskott-Aldrich syndrome4
Wolf-Hirschhorn syndrome4
Wrinkly skin syndrome4
X-linked Charcot-Marie-Tooth disease, type 14
X-linked Charcot-Marie-Tooth disease, type 34
X-linked agammaglobulinemia4
X-linked centronuclear myopathy4
X-linked dominant chondrodysplasia punctata4
X-linked myopathy with excessive autophagy4
X-linked spastic paraplegia, type 24
Xanthomatosis cerebrotendinous4
Xeroderma pigmentosum4
LCAT deficiency5
Tangier disease5
Schwartz-Jampel syndrome6
Stuve-Wiedemann dysplasia6
Hypodontia - dysplasia of nails7
Odonto-onycho-dermal dysplasia7
Hyperlipoproteinemia type 18
Hyperlipoproteinemia, type 48
Familial hemophagocytic lymphohistiocytosis9
Omenn syndrome9
Glucocorticoid deficiency, familial10
Triple A syndrome10
Hypomagnesemia with normocalciuria11
Isolated dominant hypomagnesemia11
Familial dysautonomia12
Hereditary sensory and autonomic neuropathy, type 412
Methylmalonicaciduria, vitamin B12 unresponsive13
Motor and cognitive disorder due to sepiapterin reductase deficiency13
Glucose-galactose malabsorption14
Renal glucosuria14
Krabbe disease15
Succinyl-CoA acetoacetate transferase deficiency15
Alstroem syndrome16
Insulin-resistance syndrome, type A16
Glutathione synthetase deficiency17
Hemolytic anemia due to glutathione reductase deficiency17
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency18
Pseudoxanthoma elasticum18
Cholestasis, progressive familial intrahepatic 219
Cholestasis, progressive familial intrahepatic, type 119
Adrenoleukodystrophy, X-linked20
Chondrodysplasia punctata, rhizomelic type20
Refsum disease20
Refsum disease, infantile form20
Zellweger syndrome20
Aicardi-Goutieres syndrome21
CACH syndrome21
Mayer-Rokitansky-Kuester-Hauser syndrome22
Mullerian aplasia22
CADASIL syndrome23
Hemiplegic migraine, familial or sporadic23
Benign familial epilepsy of childhood with rolandic spikes24
Epilepsy, lateral temporal lobe, autosomal dominant24
Autosomal dominant hyper IgE syndrome25
Autosomal recessive hyper IgE syndrome25
Pontocerebellar hypoplasia type 126
Pontocerebellar hypoplasia type 226
Autosomal recessive spondylocostal dysostosis27
Craniometaphyseal dysplasia27
Chondrocalcinosis, familial articular28
Gitelman syndrome28
Methylcobalamin deficiency type cbl E29
Methylcobalamin deficiency, cbl G type29
Clouston syndrome30
Keratoderma palmoplantar - deafness30
Fructose intolerance31
Autosomal recessive spastic paraplegia, type 1132
Autosomal recessive spastic paraplegia, type 1532
Autosomal dominant Charcot-Marie-Tooth disease, type 2A133
Autosomal dominant Charcot-Marie-Tooth disease, type 2A233
Acro-renal-ocular syndrome34
BOR syndrome34
Blepharophimosis - epicanthus inversus - ptosis34
Branchio-oculo-facial syndrome34
Duane syndrome34
Langer mesomelic dysplasia34
Otofaciocervical syndrome34
Papillo-renal syndrome34
Stargardt disease34
Stickler syndrome34
Wagner disease34
Congenital fiber-type disproportion myopathy35
Distal monosomy 1p3635
Miller-Dieker syndrome36
Cortical dysplasia - focal epilepsy syndrome37
Pitt-Hopkins syndrome37
Joubert syndrome38
Smith-Magenis syndrome38
Bifunctional enzyme deficiency39
Hypoparathyroidism - deafness - renal disease40
Hypoparathyroidism, familial, isolated40
Hypotrichosis simplex41
GRACILE syndrome42
Hypergonadotropic ovarian dysgenesis42
Hereditary neuralgic amyotrophy43
Hereditary neuropathy with liability to pressure palsies43
Glycogen storage disease due to liver phosphorylase deficiency44
Glycogen storage disease due to phosphorylase kinase deficiency44
ATP synthetase deficiency45
Alpers syndrome45
Lafora disease45
Mitochondrial encephalomyopathy aminoacidopathy45
Unverricht-Lundborg disease45
Congenital analbuminemia46
Congenital deficiency in alpha-fetoprotein46
Dyskeratosis congenita47
Deafness, autosomal dominant, nonsyndromic, sensorineural, type DFNA48
Proximal myotonic myopathy48
Keratoderma hereditarium mutilans49
Vohwinkel syndrome - ichthyosis49
Ataxia, familial paroxysmal50
Hereditary continuous muscle fiber activity50
Hyperparathyroidism, primary, familial51
Hypocalciuric hypercalcemia, familial51
Dandy-Walker malformation, isolated52
Ellis Van Creveld syndrome52
Jeune syndrome52
Greig syndrome53
Polydactyly postaxial53
Townes-Brocks syndrome53
Dihydropyrimidine dehydrogenase deficiency54
Microvillous inclusion disease54
Burkitt lymphoma55
Chronic myeloid leukemia55
Gastrointestinal stromal tumor55
Isolated scaphocephaly56
Neurometabolic disorder due to serine deficiency56
Goldberg-Shprintzen megacolon syndrome57
Mowat-Wilson syndrome57
Ondine syndrome57
Arginine:glycine amidinotransferase deficiency58
Guanidinoacetate methyltransferase deficiency58
Intellectual deficit, X-linked, with seizures, short stature and midface hypoplasia58
Naxos disease59
Woolly hair59
Woolly hair - palmoplantar keratoderma - dilated cardiomyopathy59
Lissencephaly due to LIS1 mutation60
Lissencephaly, type 1, due to doublecortin (DCX) gene mutation60
Nodular neuronal heterotopia60
Darier disease61
Pachyonychia congenita61
White sponge nevus61
Arthrogryposis, lethal - anterior horn cell disease62
Autosomal recessive multiple pterygium syndrome62
COFS syndrome62
Contracture syndrome, lethal, congenital type 162
Fetal akinesia sequence62
Neurogenic arthrogryposis multiplex congenita62
Bicuspid aortic valve63
Familial aortic dissection63
Hypoplastic left heart syndrome63
Autosomal recessive limb-girdle muscular dystrophy, type 2H64
Autosomal recessive limb-girdle muscular dystrophy, type 2I64
Dysequilibrium syndrome64
Multiple epiphyseal dysplasia due to collagen 9 anomaly65
Multiple epiphyseal dysplasia, type 165
Multiple epiphyseal dysplasia, type 465
Adult-onset proximal spinal muscular atrophy, autosomal dominant66
Kennedy disease66
Proximal spinal muscular atrophy66
Erythrokeratodermia, progressive symmetric67
Greither's disease67
Keratosis palmoplantaris striata67
Neuropathy with hearing impairment67
Palmoplantar hyperkeratosis, localized, epidermolytic67
Schopf-Schulz-Passarge syndrome67
Thost-Unna palmoplantar keratoderma67
Atelosteogenesis I68
Atelosteogenesis, type II68
Atelosteogenesis, type III68
Acromesomelic dysplasia, Hunter-Thomson type69
Acromesomelic dysplasia, Maroteaux type69
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis69
Hypomagnesemia caused by selective magnesium malabsorption69
Aplasia of lacrimal and salivary glands70
EEC syndrome70
Lacrimo-auriculo-dento-digital syndrome70
Zlotogora-Ogur syndrome70
3-methylglutaconic aciduria, type 171
3-methylglutaconic aciduria, type 371
Barth syndrome71
Dilated cardiomyopathy with ataxia71
Generalized pseudohypoaldosteronism type 172
Hyperaldosteronism, familial, type 172
Pseudohypoaldosteronism, type 272
Renal pseudohypoaldosteronism type 172
6-pyruvoyl-tetrahydropterin synthase deficiency73
Dehydratase deficiency73
Dihydropteridine reductase deficiency73
Folate malabsorption, hereditary73
Amelogenesis imperfecta, hypocalcified type74
Amelogenesis imperfecta, hypomaturation type74
Amelogenesis imperfecta, hypoplastic type74
Dentinogenesis imperfecta74
Primary lateral sclerosis74
Autosomal dominant Charcot-Marie-Tooth disease, type 2B75
Autosomal dominant Charcot-Marie-Tooth disease, type 2D75
Autosomal dominant spastic paraplegia, type 1775
Distal hereditary motor neuropathy, type 275
Distal hereditary motor neuropathy, type 575
CDG syndrome, type IIa76
CDG syndrome, type Ia76
CDG syndrome, type Ib76
CDG syndrome, type Ic76
CDG syndrome, type Id76
CDG syndrome, type Ik76
Dyskinesia, paroxysmal non-kinesigenic77
Dystonia, primary, DYT6 type77
Early onset torsion dystonia77
Myoclonic dystonia77
Silver-Russell syndrome77
Tourette syndrome77
Corpus callosum dysgenesis, X-linked recessive78
FG syndrome78
Fried syndrome78
Intellectual deficit, X-linked, Cabezas type78
Intellectual deficit, X-linked, Raymond type78
Intellectual deficit, X-linked, South African type78
Parietal foramina78
Anophthalmia - Microphthalmia, isolated79
Anophthalmia/microphthalmia - esophageal atresia79
Bakrania-Ragge syndrome79
Colobomatous microphthalmia79
Matthew-Wood syndrome79
Midas syndrome79
Oculofaciocardiodental syndrome79
Syndromic microphthalmia due to OTX2 mutation79

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)