Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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autosomal dominant non-syndromic intellectual disability 18 |
autosomal dominant mental retardation 18; MRD18
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An autosomal dominant non-syndromic intellectual d..[+]
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autosomal dominant non-syndromic intellectual disability 19 |
autosomal dominant mental retardation 19; MRD19
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An autosomal dominant non-syndromic intellectual d..[+]
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autosomal dominant non-syndromic intellectual disability 21 |
autosomal dominant mental retardation 21; MRD21
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An autosomal dominant non-syndromic intellectual d..[+]
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autosomal dominant intellectual developmental disorder 22 |
autosomal dominant non-syndromic intellectual disa..
[+]
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An autosomal dominant intellectual developmental d..[+]
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autosomal dominant non-syndromic intellectual disability 23 |
autosomal dominant mental retardation 23; MRD23
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An autosomal dominant non-syndromic intellectual d..[+]
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autosomal dominant non-syndromic intellectual disability 24 |
autosomal dominant mental retardation 24; MRD24
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An autosomal dominant non-syndromic intellectual d..[+]
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autosomal dominant intellectual developmental disorder 26 |
autosomal dominant non-syndromic intellectual disa..
[+]
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An autosomal dominant intellectual developmental d..[+]
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autosomal dominant non-syndromic intellectual disability 27 |
autosomal dominant mental retardation 27; MRD27
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An autosomal dominant non-syndromic intellectual d..[+]
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autosomal dominant intellectual developmental disorder 29 |
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 30 |
autosomal dominant non-syndromic intellectual disa..
[+]
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An autosomal dominant intellectual developmental d..[+]
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autosomal dominant non-syndromic intellectual disability 31 |
autosomal dominant mental retardation 31; MRD31
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An autosomal dominant non-syndromic intellectual d..[+]
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autosomal dominant non-syndromic intellectual disability 32 |
autosomal dominant mental retardation 32; MRD32
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An autosomal dominant non-syndromic intellectual d..[+]
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autosomal dominant non-syndromic intellectual disability 33 |
autosomal dominant mental retardation 33; MRD33
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An autosomal dominant non-syndromic intellectual 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 non-syndromic intellectual disability 35 |
autosomal dominant mental retardation 35; MRD35
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An autosomal dominant non-syndromic intellectual d..[+]
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autosomal dominant non-syndromic intellectual disability 36 |
autosomal dominant mental retardation 36; MRD36
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An autosomal dominant non-syndromic intellectual d..[+]
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autosomal dominant non-syndromic intellectual disability 38 |
autosomal dominant mental retardation 38; MRD38; P..
[+]
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An autosomal dominant non-syndromic intellectual d..[+]
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autosomal dominant non-syndromic intellectual disability 39 |
autosomal dominant mental retardation 39; MRD39
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An autosomal dominant non-syndromic intellectual d..[+]
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autosomal dominant non-syndromic intellectual disability 40 |
autosomal dominant mental retardation 40; MRD40
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An autosomal dominant non-syndromic intellectual 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 non-syndromic intellectual disability 42 |
autosomal dominant mental retardation 42; MRD42
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An autosomal dominant non-syndromic intellectual 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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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 3 |
autosomal recessive cytochrome b-positive CGD type..
[+]
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A chronic granulomatous disease characterized by t..[+]
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absence epilepsy |
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An electroclinical syndrome characterized by the o..[+]
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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 16 |
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n_a
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axial osteomalacia |
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An osteosclerosis that results_in coarsening locat..[+]
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autosomal recessive spinocerebellar ataxia 18 |
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n_a
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achondrogenesis |
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An osteochondrodysplasia that has_material_basis_i..[+]
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acromesomelic dysplasia |
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An osteochondrodysplasia that has_material_basis_i..[+]
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acromesomelic dysplasia, Maroteaux type |
acromesomelic dysplasia-1
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An acromesomelic dysplasia that has_material_basis..[+]
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acromesomelic dysplasia, Hunter-Thompson type |
acromesomelic dwarfism
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An acromesomelic dysplasia that has_material_basis..[+]
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