Search Diseases
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| Disease | Synonyms | Description | Articles | Phenotypes |
|---|---|---|---|---|
| autosomal dominant non-syndromic intellectual disability 10 |
MRD10; autosomal dominant mental retardation 10
|
An autosomal dominant non-syndromic intellectual d..[+]
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| autosomal dominant non-syndromic intellectual disability 11 |
MRD11; autosomal dominant mental retardation 11
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An autosomal dominant non-syndromic intellectual d..[+]
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| Coffin-Siris syndrome 1 |
MRD12; autosomal dominant mental retardation 12; C..
[+]
|
An autosomal dominant non-syndromic intellectual d..[+]
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| autosomal dominant non-syndromic intellectual disability 13 |
An autosomal dominant non-syndromic intellectual d..[+]
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| Coffin-Siris syndrome 2 |
MRD14; autosomal dominant mental retardation 14; C..
[+]
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An autosomal dominant non-syndromic intellectual d..[+]
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| Coffin-Siris syndrome 3 |
MRD15; autosomal dominant mental retardation 15; C..
[+]
|
A Coffin-Siris syndrome that has_material_basis_in..[+]
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| Coffin-Siris syndrome 4 |
MRD16; autosomal dominant mental retardation 16; C..
[+]
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An autosomal dominant non-syndromic intellectual d..[+]
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| Schuurs-Hoeijmakers Syndrome |
MRD17; autosomal dominant mental retardation 17; S..
[+]
|
An autosomal dominant intellectual developmental d..[+]
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| autosomal dominant non-syndromic intellectual disability 18 |
MRD18; autosomal dominant mental retardation 18
|
An autosomal dominant non-syndromic intellectual d..[+]
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| autosomal dominant non-syndromic intellectual disability 19 |
MRD19; autosomal dominant mental retardation 19
|
An autosomal dominant non-syndromic intellectual d..[+]
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| autosomal dominant non-syndromic intellectual disability 21 |
MRD21; autosomal dominant mental retardation 21
|
An autosomal dominant non-syndromic intellectual d..[+]
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| autosomal dominant intellectual developmental disorder 22 |
MRD22; autosomal dominant mental retardation 22; a..
[+]
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An autosomal dominant intellectual developmental d..[+]
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| autosomal dominant non-syndromic intellectual disability 23 |
MRD23; autosomal dominant mental retardation 23
|
An autosomal dominant non-syndromic intellectual d..[+]
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| autosomal dominant non-syndromic intellectual disability 24 |
MRD24; autosomal dominant mental retardation 24
|
An autosomal dominant non-syndromic intellectual d..[+]
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| Xia-Gibbs Syndrome |
MRD25; autosomal dominant mental retardation 25
|
An autosomal dominant non-syndromic intellectual d..[+]
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| autosomal dominant intellectual developmental disorder 26 |
MRD26; autosomal dominant mental retardation 26; a..
[+]
|
An autosomal dominant intellectual developmental d..[+]
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| autosomal dominant non-syndromic intellectual disability 27 |
MRD27; autosomal dominant mental retardation 27
|
An autosomal dominant non-syndromic intellectual d..[+]
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| Helsmoortel-Van Der Aa Syndrome |
MRD28; autosomal dominant mental retardation 28; H..
[+]
|
An autosomal dominant non-syndromic intellectual d..[+]
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| autosomal dominant intellectual developmental disorder 29 |
MRD29; autosomal dominant mental retardation 29; a..
[+]
|
An autosomal dominant intellectual developmental d..[+]
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| autosomal dominant intellectual developmental disorder 30 |
MRD30; autosomal dominant mental retardation 30; a..
[+]
|
An autosomal dominant intellectual developmental d..[+]
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| autosomal dominant non-syndromic intellectual disability 31 |
MRD31; autosomal dominant mental retardation 31
|
An autosomal dominant non-syndromic intellectual d..[+]
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| autosomal dominant non-syndromic intellectual disability 32 |
MRD32; autosomal dominant mental retardation 32
|
An autosomal dominant non-syndromic intellectual d..[+]
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| autosomal dominant non-syndromic intellectual disability 33 |
MRD33; autosomal dominant mental retardation 33
|
An autosomal dominant non-syndromic intellectual d..[+]
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| autosomal dominant intellectual developmental disorder 34 |
MRD34; autosomal dominant mental retardation 34; a..
[+]
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An autosomal dominant intellectual developmental d..[+]
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| autosomal dominant non-syndromic intellectual disability 35 |
MRD35; autosomal dominant mental retardation 35
|
An autosomal dominant non-syndromic intellectual d..[+]
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| autosomal dominant non-syndromic intellectual disability 36 |
MRD36; autosomal dominant mental retardation 36
|
An autosomal dominant non-syndromic intellectual d..[+]
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| White-Sutton syndrome |
MRD37; autosomal dominant mental retardation 37; W..
[+]
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An autosomal dominant non-syndromic intellectual d..[+]
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| autosomal dominant non-syndromic intellectual disability 38 |
MRD38; autosomal dominant mental retardation 38; P..
[+]
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An autosomal dominant non-syndromic intellectual d..[+]
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| autosomal dominant non-syndromic intellectual disability 39 |
MRD39; autosomal dominant mental retardation 39
|
An autosomal dominant non-syndromic intellectual d..[+]
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| autosomal dominant non-syndromic intellectual disability 40 |
MRD40; autosomal dominant mental retardation 40
|
An autosomal dominant non-syndromic intellectual d..[+]
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| autosomal dominant intellectual developmental disorder 41 |
MRD41; autosomal dominant mental retardation 41; a..
[+]
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An autosomal dominant intellectual developmental d..[+]
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| autosomal dominant non-syndromic intellectual disability 42 |
MRD42; autosomal dominant mental retardation 42
|
An autosomal dominant non-syndromic intellectual d..[+]
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| autosomal dominant intellectual developmental disorder 43 |
MRD43; autosomal dominant mental retardation 43; a..
[+]
|
An autosomal dominant intellectual developmental d..[+]
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| autosomal dominant intellectual developmental disorder 44 |
MRD44; autosomal dominant mental retardation 44; a..
[+]
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An autosomal dominant intellectual developmental d..[+]
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| Koolen-De Vries syndrome |
microdeletion 17q21.31 syndrome; chromosome 17q21...
[+]
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An autosomal dominant non-syndromic intellectual d..[+]
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| spermatogenic failure 17 |
Male infertility due to oocyte activation failure; ..
[+]
|
A spermatogenic failure that is characterized by a..[+]
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| progressive familial intrahepatic cholestasis 3 |
MDR3 deficiency; PFIC3; progressive familial intra..
[+]
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A progressive familial intrahepatic cholestasis ch..[+]
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| Loeys-Dietz syndrome 2 |
Marfan syndrome type II; AAT3; familial throacic a..
[+]
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A Loeys-Dietz syndrome that has_material_basis_in ..[+]
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| X-linked Emery-Dreifuss muscular dystrophy 6 |
myopathy, X-linked, with postural muscle atrophy; ..
[+]
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An Emery-Dreifuss muscular dystrophy that has_mate..[+]
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| congenital disorder of glycosylation type IIa |
mental retardation, growth retardation, prominent ..
[+]
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A congenital disorder of glycosylation type II tha..[+]
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| primary autosomal recessive microcephaly 14 |
MCPH14
|
A primary autosomal recessive microcephaly that ha..[+]
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| primary autosomal recessive microcephaly 5 |
MCPH5
|
A primary autosomal recessive microcephaly that ha..[+]
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| primary autosomal recessive microcephaly 12 |
MCPH12
|
A primary autosomal recessive microcephaly that ha..[+]
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| primary autosomal recessive microcephaly 9 |
MCPH9
|
A primary autosomal recessive microcephaly that ha..[+]
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| primary autosomal recessive microcephaly |
MCPH
|
A primary microcephaly characterized by microcepha..[+]
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| brachycephaly, trichomegaly, and developmental delay |
MCINS; Macinnes syndrome; BTDD
|
A syndrome characterized by brachycephaly, trichom..[+]
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| syndromic X-linked intellectual disability Pilorge type |
MRXSP
|
A syndromic X-linked intellectual disability chara..[+]
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| Jansen's metaphyseal chondrodysplasia |
Murk Jansen Type Metaphyseal Chondrodysplasia; Jan..
[+]
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A metaphyseal dysplasia that has_material_basis_in..[+]
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| inclusion-cell disease |
mucolipidosis II; I-cell disease
|
n_a
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| pseudo-Hurler polydystrophy |
mucolipidosis III
|
n_a
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