Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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distal hereditary motor neuronopathy type 2A |
distal hereditary motor neuropathy type IIA; autos..
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A distal hereditary motor neuropathy type 2 that h..[+]
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distal hereditary motor neuronopathy type 2D |
distal spinal muscular atrophy with calf predomina..
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A distal hereditary motor neuropathy type 2 that h..[+]
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distal spinal muscular atrophy type 5 |
DSMA5; autosomal recessive distal spinal muscular ..
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A autosomal recessive distal hereditary motor neur..[+]
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D-2-hydroxyglutaric aciduria 2 |
D2HGA2
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A D-2-hydroxyglutaric aciduria that has_material_b..[+]
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dehydrated hereditary stomatocytosis 1 |
dehydrated hereditary stomatocytosis 1 with or wit..
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A dehydrated hereditary stomatocytosis that has_ma..[+]
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dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome |
dilated cardiomyopathy with premature ovarian fail..
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A syndrome characterized by dilated cardiomyopathy..[+]
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distal arthrogryposis type 1 |
digitotalar dysmorphism; DA1
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A distal arthrogryposis characterized by autosomal..[+]
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distal arthrogryposis type 2B |
DA2B; Freeman-Sheldon syndrome variant; Sheldon-Ha..
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A distal arthrogryposis characterized by contractu..[+]
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distal arthrogryposis type 2A |
A Freeman-Sheldon syndrome that has_material_basis..[+]
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distal arthrogryposis type 3 |
distal arthrogryposis multiplex congenita type IIA..
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A distal arthrogryposis characterized by distal ar..[+]
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DOORS syndrome |
A syndrome characterized by sensorineural deafness..[+]
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diffuse cystic renal dysplasia |
CYSRD; renal dysplasia diffuse cystic; susceptibil..
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A cystic kidney disease characterized by nonsyndro..[+]
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Diamond-Blackfan anemia 7 |
DBA7; RPL11-related Diamond-Blackfan anemia
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 2 |
DBA2
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-blackfan anemia 3 |
DBA3; RPS24-related Diamond-Blackfan anemia
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 20 |
DBA20; RPS15A-related Diamond-Blackfan anemia
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 16 |
DBA16; RPL27-related Diamond-Blackfan anemia
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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developmental and epileptic encephalopathy |
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An electroclinical syndrome characterized by epile..[+]
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developmental and epileptic encephalopathy 70 |
DEE70; early infantile epileptic encephalopathy 70..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 73 |
DEE73; early infantile epileptic encephalopathy 73..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 79 |
DEE79; early infantile epileptic encephalopathy 79..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 81 |
DEE81; early infantile epileptic encephalopathy 81..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 88 |
DEE88; early infantile epileptic encephalopathy 88..
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A developmental and epileptic encephalopathy that ..[+]
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mitral valve disease |
disease of mitral valve; chronic rheumatic mitral ..
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n_a
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connective tissue disease |
disorder of connective tissue; connective tissue d..
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A musculoskeletal system disease that affects tiss..[+]
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hematopoietic system disease |
An immune system disease that has_material_basis_i..[+]
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lymphatic system disease |
An immune system disease that is located_in the ly..[+]
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gastrointestinal system disease |
digestive system disorder; alimentary system disea..
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A disease of anatomical entity that is located_in ..[+]
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enamel caries |
Dental caries limited to enamel; primary dental ca..
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n_a
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accessory nerve disease |
n_a
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olfactory nerve disease |
n_a
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liver disease |
n_a
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scleroderma |
dermatosclerosis
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A rheumatic disease that involves the abnormal gro..[+]
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aortic disease |
An artery disease that is characterized by degener..[+]
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thymus gland disease |
disease of thymus gland
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n_a
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third cranial nerve disease |
disorder of oculomotor nerve; Oculomotor nerve dis..
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n_a
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biotinidase deficiency |
A multiple carboxylase deficiency that involves a ..[+]
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Hartnup disease |
deficiency of tryptophan oxygenase; Neutral 1 amin..
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An amino acid metabolic disorder that is caused by..[+]
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Fanconi syndrome |
A renal tubular transport disease of the proximal ..[+]
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filariasis |
A parasitic helminthiasis infectious disease that ..[+]
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exotropia |
n_a
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transvestism |
Dual-role transvestism; cross dresser; Fetishistic..
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n_a
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capillary disease |
disease of capillaries
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A vascular disease that is located_in the capillar..[+]
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ocular motility disease |
disorder of eye movements; eye movement disorder
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n_a
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cardiovascular system disease |
disease of subdivision of hemolymphoid system
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A disease of anatomical entity which occurs in the..[+]
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neurodegenerative disease |
degenerative disease; Neurodegenerative disease
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A central nervous system disease that results_in t..[+]
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paranasal sinus disease |
disorder of nasal sinus
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n_a
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candidiasis |
Disseminated candidiasis; systemic candidiasis
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An opportunistic mycosis that involves fungal infe..[+]
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cecal disease |
disorder of cecum (disorder)
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An intestinal disease located_in the cecum.
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pleural disease |
disorder of pleura; non-neoplastic pleural disease..
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A thoracic disease which may involve inflammation ..[+]
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