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autosomal dominant intellectual developmental disorder 43
|
DOID_0070073 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2.] |
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autosomal dominant intellectual developmental disorder 44
|
DOID_0070074 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TRIO gene on chromosome 5p15.2.] |
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autosomal dominant intellectual developmental disorder 41
|
DOID_0070071 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TBL1XR1 gene on chromosome 3q26.32.] |
|
autosomal dominant intellectual developmental disorder 42
|
DOID_0070072 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GNB1 gene on chromosome 1p36.33.] |
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schizophrenia 3
|
DOID_0070079 |
[A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD3 gene on chromosome 6p23.] |
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Trombiculoidea
|
NCBITaxon_92088 |
|
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Parasitengona
|
NCBITaxon_83141 |
|
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Coffin-Siris syndrome 2
|
DOID_0070044 |
[A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1A gene on chromosome 1p36.11.] |
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Coffin-Siris syndrome
|
DOID_1925 |
[An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails.] |
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Coffin-Siris syndrome 3
|
DOID_0070045 |
[A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23.] |
|
Coffin-Siris syndrome 1
|
DOID_0070042 |
[A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3.] |
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autosomal dominant intellectual developmental disorder 13
|
DOID_0070043 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DYNC1H1 gene on chromosome 14q32.31.] |
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autosomal dominant intellectual developmental disorder 10
|
DOID_0070040 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CACNG2 gene on chromosome 22q12.3.] |
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autosomal dominant intellectual developmental disorder 11
|
DOID_0070041 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EPB41L1 gene on chromosome 20q11.23.] |
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GAND syndrome
|
DOID_0070048 |
[An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development and that has_material_basis_in an autosomal dominant mutation of the GATAD2B gene on chromosome 1q21.3.] |
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autosomal dominant intellectual developmental disorder 19
|
DOID_0070049 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTNNB1 gene on chromosome 3p22.1.] |
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Coffin-Siris syndrome 4
|
DOID_0070046 |
[A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2.] |
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Schuurs-Hoeijmakers Syndrome
|
DOID_0070047 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PACS1 gene on chromosome 11q13.1-q13.2.] |
|
Xia-Gibbs Syndrome
|
DOID_0070055 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AHDC1 gene on chromosome 1p36.1-p35.3.] |
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autosomal dominant intellectual developmental disorder 26
|
DOID_0070056 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AUTS2 gene on chromosome 7q11.22.] |
