Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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cone-rod dystrophy 8 |
CORD8
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A cone-rod dystrophy that has_material_basis_in va..[+]
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cone-rod dystrophy 13 |
CORD13
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A cone-rod dystrophy that has_material_basis_in mu..[+]
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cone-rod dystrophy 10 |
CORD10
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A cone-rod dystrophy that has_material_basis_in co..[+]
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cone-rod dystrophy 11 |
CORD11
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A cone-rod dystrophy that has_material_basis_in he..[+]
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cone-rod dystrophy 12 |
CORD12
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A cone-rod dystrophy that has_material_basis_in ho..[+]
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cone-rod dystrophy 9 |
CORD9
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A cone-rod dystrophy that has_material_basis_in ho..[+]
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cone-rod dystrophy 15 |
CORD15
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A cone-rod dystrophy that has_material_basis_in ho..[+]
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cone-rod dystrophy 16 |
CORD16; retinal dystrophy with early macular invol..
[+]
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A cone-rod dystrophy that has_material_basis_in ho..[+]
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cone-rod dystrophy 17 |
CORD17
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A cone-rod dystrophy that has_material_basis_in va..[+]
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cone-rod dystrophy 18 |
CORD18
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A cone-rod dystrophy that has_material_basis_in ho..[+]
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cone-rod dystrophy 19 |
CORD19
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A cone-rod dystrophy that has_material_basis_in ho..[+]
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cone-rod dystrophy 20 |
CORD20
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A cone-rod dystrophy that has_material_basis_in ho..[+]
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CADASIL 1 |
autosomal dominant cerebral arteriopathy with subc..
[+]
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A CADASIL characterized by migraine, strokes, and ..[+]
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CADASIL 2 |
autosomal dominant cerebral arteriopathy with subc..
[+]
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A CADASIL characterized by stroke, transient ische..[+]
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congenital bile acid synthesis defect 5 |
CBAS5
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A congenital bile acid synthesis defect characteri..[+]
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congenital bile acid synthesis defect 6 |
CBAS6
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A congenital bile acid synthesis defect characteri..[+]
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congenital bile acid synthesis defect 4 |
CBAS4; intrahepatic cholestasis with defective con..
[+]
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A congenital bile acid synthesis defect characteri..[+]
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congenital bile acid synthesis defect 2 |
cholestasis with delta(4)-3-oxosteroid 5-beta-redu..
[+]
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A congenital bile acid synthesis defect characteri..[+]
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congenital bile acid synthesis defect 3 |
CBAS3; oxysterol 7-alpha-hydroxylase deficiency
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A congenital bile acid synthesis defect characteri..[+]
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congenital bile acid synthesis defect 1 |
CBAS1
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A congenital bile acid synthesis defect characteri..[+]
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congenital generalized lipodystrophy type 1 |
CGL1; Berardinelli-Seip Congenital Lipodystrophy, ..
[+]
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A congenital generalized lipodystrophy that has_ma..[+]
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congenital generalized lipodystrophy type 2 |
A congenital generalized lipodystrophy that has_ma..[+]
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congenital generalized lipodystrophy type 3 |
CGL3; BSCL3; Berardinelli-Seip congenital lipodyst..
[+]
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A congenital generalized lipodystrophy that has_ma..[+]
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congenital generalized lipodystrophy type 4 |
A congenital generalized lipodystrophy that has_ma..[+]
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congenital mirror movement disorder |
familial congenital controlateral synkinesia; fami..
[+]
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A movement disease characterized by involuntary mo..[+]
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Castleman disease |
angiofollicular lymph hyperplasia; angiofollicular..
[+]
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A lymphoproliferative syndrome characterized by on..[+]
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camptodactyly-tall stature-scoliosis-hearing loss syndrome |
CATSHL syndrome
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A syndrome characterized by camptodactyly, tall st..[+]
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Crouzon syndrome-acanthosis nigricans syndrome |
A syndrome characterized by Crouzon-like features,..[+]
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centronuclear myopathy 2 |
CNM2
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An autosomal recessive centronuclear myopathy that..[+]
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centronuclear myopathy 6 with fiber-type disproportion |
CNM6
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An autosomal recessive centronuclear myopathy that..[+]
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centronuclear myopathy 5 |
CNM5
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An autosomal recessive centronuclear myopathy char..[+]
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centronuclear myopathy 1 |
CNM1
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An autosomal dominant centronuclear myopathy chara..[+]
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centronuclear myopathy 4 |
CNM4
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An autosomal dominant centronuclear myopathy that ..[+]
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centronuclear myopathy X-linked |
CNMX; MTM1; myotubular myopathy 1; X-linked myotub..
[+]
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A centronuclear myopathy that has_material_basis_i..[+]
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congenital muscular dystrophy-dystroglycanopathy type A |
congenital muscular alpha-dystroglycanopathy with ..
[+]
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A congenital muscular dystrophy-dystroglycanopathy..[+]
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congenital muscular dystrophy-dystroglycanopathy type A11 |
congenital muscular dystrophy-dystroglycanopathy w..
[+]
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A congenital muscular dystrophy-dystroglycanopathy..[+]
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congenital muscular dystrophy-dystroglycanopathy type A8 |
congenital muscular dystrophy-dystroglycanopathy w..
[+]
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A congenital muscular dystrophy-dystroglycanopathy..[+]
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congenital muscular dystrophy-dystroglycanopathy type A9 |
congenital muscular dystrophy-dystroglycanopathy w..
[+]
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A congenital muscular dystrophy-dystroglycanopathy..[+]
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congenital muscular dystrophy-dystroglycanopathy A14 |
congenital muscular dystrophy-dystroglycanopathy w..
[+]
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A congenital muscular dystrophy-dystroglycanopathy..[+]
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congenital muscular dystrophy-dystroglycanopathy A7 |
congenital muscular dystrophy-dystroglycanopathy w..
[+]
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A congenital muscular dystrophy-dystroglycanopathy..[+]
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congenital muscular dystrophy-dystroglycanopathy type A12 |
congenital muscular dystrophy-dystroglycanopathy w..
[+]
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A congenital muscular dystrophy-dystroglycanopathy..[+]
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congenital muscular dystrophy-dystroglycanopathy type A3 |
congenital muscular dystrophy-dystroglycanopathy w..
[+]
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A congenital muscular dystrophy-dystroglycanopathy..[+]
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congenital muscular dystrophy-dystroglycanopathy type A1 |
congenital muscular dystrophy-dystroglycanopathy w..
[+]
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A congenital muscular dystrophy-dystroglycanopathy..[+]
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congenital muscular dystrophy-dystroglycanopathy type A13 |
congenital muscular dystrophy-dystroglycanopathy w..
[+]
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A congenital muscular dystrophy-dystroglycanopathy..[+]
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congenital muscular dystrophy-dystroglycanopathy type A10 |
congenital muscular dystrophy-dystroglycanopathy w..
[+]
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A congenital muscular dystrophy-dystroglycanopathy..[+]
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congenital muscular dystrophy-dystroglycanopathy type A2 |
congenital muscular dystrophy-dystroglycanopathy w..
[+]
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A congenital muscular dystrophy-dystroglycanopathy..[+]
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congenital muscular dystrophy-dystroglycanopathy type A5 |
congenital muscular dystrophy-dystroglycanopathy w..
[+]
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A congenital muscular dystrophy-dystroglycanopathy..[+]
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congenital muscular dystrophy-dystroglycanopathy type A6 |
congenital muscular dystrophy-dystroglycanopathy w..
[+]
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A congenital muscular dystrophy-dystroglycanopathy..[+]
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cerebrocostomandibular syndrome |
A syndrome characterized by severe micrognathia, p..[+]
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combined malonic and methylmalonic acidemia |
An organic acidemia characterized by elevated leve..[+]
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