Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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cone-rod dystrophy 7 |
CORD7
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A cone-rod dystrophy that has_material_basis_in he..[+]
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cone-rod dystrophy 3 |
CORD3
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A cone-rod dystrophy that has_material_basis_in ho..[+]
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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; Berardinelli-Seip congenital lipodystrophy t..
[+]
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A congenital generalized lipodystrophy that has_ma..[+]
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congenital generalized lipodystrophy type 4 |
CGL4; Berardinelli-Seip congenital lipodystrophy t..
[+]
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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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An autosomal genetic disease characterized by camp..[+]
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Crouzon syndrome-acanthosis nigricans syndrome |
A syndrome characterized by Crouzon-like features,..[+]
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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 1 |
CNM1
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An autosomal dominant centronuclear myopathy chara..[+]
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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 A7 |
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 dyserythropoietic anemia type Ia |
CDAN1A; CDA Ia
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A congenital dyserythropoietic anemia type I that ..[+]
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classic galactosemia |
galactose-1-phosphate uridyltransferase deficiency..
[+]
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A galactosemia that has_material_basis_in homozygo..[+]
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cardiofaciocutaneous syndrome 1 |
CFC1
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A cardiofaciocutaneous syndrome that has_material_..[+]
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combined oxidative phosphorylation deficiency 35 |
COXPD35
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A combined oxidative phosphorylation deficiency ch..[+]
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combined oxidative phosphorylation deficiency 30 |
COXPD30
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 5 |
COXPD5; hypotonia with lactic acidemia and hyperam..
[+]
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A combined oxidative phosphorylation deficiency ch..[+]
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combined oxidative phosphorylation deficiency 20 |
COXPD20
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 24 |
COXPD24
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A combined oxidative phosphorylation deficiency ty..[+]
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combined oxidative phosphorylation deficiency 7 |
COXPD7; severe C12ORF65-related combined oxidative..
[+]
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 15 |
COXPD15
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 12 |
COXPD12; leukoencephalopathy with thalamus and bra..
[+]
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A combined oxidative phosphorylation deficiency ch..[+]
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combined oxidative phosphorylation deficiency 22 |
COXPD22
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 29 |
COXPD29
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A combined oxidative phosphorylation deficiency th..[+]
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Charcot-Marie-Tooth disease type 2DD |
A Charcot-Marie-Tooth disease type 2 characterized..[+]
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combined D-2- and L-2-hydroxyglutaric aciduria |
combined D-2-hydroxyglutaric aciduria and L-2-hydr..
[+]
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A 2-hydroxyglutaric aciduria characterized by neon..[+]
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