Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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autosomal dominant intellectual developmental disorder 33 |
autosomal dominant non-syndromic intellectual disa..
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An autosomal dominant intellectual developmental d..[+]
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autosomal dominant intellectual developmental disorder 34 |
autosomal dominant non-syndromic intellectual disa..
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An autosomal dominant intellectual developmental d..[+]
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autosomal dominant intellectual developmental disorder 35 |
autosomal dominant non-syndromic intellectual disa..
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An autosomal dominant intellectual developmental d..[+]
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autosomal dominant intellectual developmental disorder 36 |
autosomal dominant non-syndromic intellectual disa..
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An autosomal dominant intellectual developmental d..[+]
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autosomal dominant intellectual developmental disorder 38 |
autosomal dominant non-syndromic intellectual disa..
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An autosomal dominant intellectual developmental d..[+]
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autosomal dominant intellectual developmental disorder 39 |
autosomal dominant non-syndromic intellectual disa..
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An autosomal dominant intellectual developmental d..[+]
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autosomal dominant intellectual developmental disorder 40 |
autosomal dominant non-syndromic intellectual disa..
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An autosomal dominant intellectual developmental d..[+]
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autosomal dominant intellectual developmental disorder 41 |
autosomal dominant non-syndromic intellectual disa..
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An autosomal dominant intellectual developmental d..[+]
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autosomal dominant intellectual developmental disorder 42 |
autosomal dominant non-syndromic intellectual disa..
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An autosomal dominant intellectual developmental d..[+]
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autosomal dominant intellectual developmental disorder 43 |
autosomal dominant non-syndromic intellectual disa..
[+]
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An autosomal dominant intellectual developmental d..[+]
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autosomal dominant intellectual developmental disorder 44 |
autosomal dominant non-syndromic intellectual disa..
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An autosomal dominant intellectual developmental d..[+]
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autosomal recessive cutis laxa type IID |
ARCL2D
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An autosomal recessive cutis laxa type II classic ..[+]
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autosomal dominant cutis laxa 1 |
ADCL1
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An autosomal dominant cutis laxa that has_material..[+]
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autosomal dominant cutis laxa 3 |
ADCL3
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An autosomal dominant cutis laxa characterized by ..[+]
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autosomal recessive cutis laxa type IIIA |
ARCL3A; De Barsy syndrome A
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A autosomal recessive cutis laxa type III that has..[+]
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autosomal recessive cutis laxa type IB |
ARCL1B
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An autosomal recessive cutis laxa type I character..[+]
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autosomal recessive cutis laxa type IIA |
ARCL2A
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An autosomal recessive cutis laxa type II classic ..[+]
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autosomal recessive cutis laxa type IA |
ARCL1A
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An autosomal recessive cutis laxa type I that has_..[+]
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autosomal dominant cutis laxa 2 |
ADCL2
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An autosomal dominant cutis laxa that has_material..[+]
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autosomal recessive cutis laxa type IIB |
ARCL2B; ARCL2, progeroid type
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A cutis laxa characterized by progeroid features t..[+]
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1 articles | |
autosomal recessive cutis laxa type IIIB |
ARCL3B; De Barsy syndrome B
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An autosomal recessive cutis laxa type III that ha..[+]
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autosomal recessive cutis laxa type IC |
autosomal recessive cutis laxa type 1C; ARCL1C
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A autosomal recessive cutis laxa type I that has_m..[+]
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autosomal recessive cutis laxa type IIC |
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An autosomal recessive cutis laxa type II classic ..[+]
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autosomal recessive cutis laxa type II classic type |
ARCL2, Debre type; ARCL2, classic type
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A cutis laxa characterized by generalized skin wri..[+]
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autosomal dominant cutis laxa |
ADCL
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A cutis laxa characterized by autosomal dominant i..[+]
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autosomal recessive cutis laxa type III |
cutis laxa-corneal clouding-intellectual disabilit..
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A cutis laxa characterized by a progeria-like appe..[+]
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autosomal recessive cutis laxa type I |
autosomal recessive cutis laxa type 1
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A cutis laxa characterized by wrinkled, redundant ..[+]
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atypical hereditary sensory neuropathy |
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A hereditary sensory neuropathy characterized by l..[+]
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autosomal recessive chronic granulomatous disease 2 |
autosomal recessive chronic granulomatous disease ..
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A chronic granulomatous disease characterized by a..[+]
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autosomal recessive chronic granulomatous disease 1 |
autosomal recessive chronic granulomatous disease ..
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A chronic granulomatous disease characterized by a..[+]
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autosomal recessive chronic granulomatous disease 4 |
A chronic granulomatous disease characterized by a..[+]
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autosomal recessive chronic granulomatous disease 3 |
autosomal recessive cytochrome b-positive CGD type..
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A chronic granulomatous disease characterized by t..[+]
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autosomal dominant Emery-Dreifuss muscular dystrophy 2 |
autosomal dominant limb-girdle muscular dystrophy ..
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An Emery-Dreifuss muscular dystrophy that has_mate..[+]
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autosomal recessive Emery-Dreifuss muscular dystrophy 3 |
EDMD3; Emery-Dreifuss muscular dystrophy 3, autoso..
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An Emery-Dreifuss muscular dystrophy that has_mate..[+]
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autosomal dominant Emery-Dreifuss muscular dystrophy 4 |
EDMD4; Emery-Dreifuss muscular dystrophy 4 with va..
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An Emery-Dreifuss muscular dystrophy that has_mate..[+]
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autosomal dominant Emery-Dreifuss muscular dystrophy 5 |
EDMD5; Emery-Dreifuss muscular dystrophy 5, autoso..
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An Emery-Dreifuss muscular dystrophy that has_mate..[+]
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autosomal dominant Emery-Dreifuss muscular dystrophy 7 |
EDMD7; Emery-Dreifuss muscular dystrophy 7, autoso..
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An Emery-Dreifuss muscular dystrophy that has_mate..[+]
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adult hepatocellular carcinoma |
A hepatocellular carcinoma that is characterized b..[+]
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arthrogryposis multiplex congenita-6 |
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An arthrogryposis multiplex congenita characterize..[+]
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adult-onset type II citrullinemia |
citrin deficiency
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A citrullinemia that has_material_basis_in homozyg..[+]
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autosomal recessive chronic granulomatous disease 5 |
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A chronic granulomatous disease characterized by a..[+]
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autosomal recessive spinocerebellar ataxia 28 |
SCAR28
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An autosomal recessive cerebellar ataxia character..[+]
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autosomal recessive spinocerebellar ataxia 29 |
SCAR29
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An autosomal recessive cerebellar ataxia character..[+]
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autosomal recessive spinocerebellar ataxia 30 |
SCAR30
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An autosomal recessive cerebellar ataxia character..[+]
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autosomal recessive spinocerebellar ataxia 31 |
SCAR31
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An autosomal recessive cerebellar ataxia character..[+]
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autosomal recessive spinocerebellar ataxia 32 |
SCAR32
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An autosomal recessive cerebellar ataxia character..[+]
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autosomal recessive spinocerebellar ataxia 33 |
SCAR33
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An autosomal recessive cerebellar ataxia character..[+]
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acrocardiofacial syndrome |
cleft palate, cardiac defect, genital anomalies, a..
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A syndrome characterized by split-hand/split-foot ..[+]
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1 articles | |
atypical dopamine transporter deficiency syndrome |
atypical DTDS
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A dopamine transporter deficiency syndrome charact..[+]
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aniridia 1 |
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An aniridia that has_material_basis_in heterozygou..[+]
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