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GAND syndrome
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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
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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
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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
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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.] |
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Xia-Gibbs Syndrome
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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
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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.] |
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autosomal dominant intellectual developmental disorder 23
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DOID_0070053 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETD5 gene on chromosome 3p25.3.] |
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Vulto-van Silfout-de Vries syndrome
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DOID_0070054 |
[An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities that has_material_basis_in an autosomal dominant mutation of the DEAF1 gene on chromosome 11p15.5.] |
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autosomal dominant intellectual developmental disorder 21
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DOID_0070051 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTCF gene on chromosome 16q22.1.] |
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autosomal dominant intellectual developmental disorder 22
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DOID_0070052 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZBTB18 gene on chromosome 1q44.] |
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neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
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DOID_0070050 |
[An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or absent speech, and behavioral abnormalities and that has_material_basis_in an autosomal dominant mutation of the MEF2C gene on chromosome 5q14.3.] |
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autosomal dominant intellectual developmental disorder 29
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DOID_0070059 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETBP1 gene on chromosome 18q12.3.] |
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Coffin-Siris syndrome 9
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DOID_0070057 |
[An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of the SOX11 gene on chromosome 2p25.2.] |
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Helsmoortel-Van Der Aa Syndrome
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DOID_0070058 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13.] |
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susceptibility to myocardial infarction
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MIM_608446 |
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autosomal recessive dyskeratosis congenita 5
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DOID_0070022 |
[A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33.] |
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dyskeratosis congenita
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DOID_2729 |
[A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer.] |
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autosomal dominant dyskeratosis congenita 6
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DOID_0070023 |
[A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of ACD on chromosome 16q22.1.] |
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autosomal dominant dyskeratosis congenita 4
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DOID_0070020 |
[A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the RTEL1 gene on chromosome 20q13.33.] |
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autosomal recessive dyskeratosis congenita 4
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DOID_0070021 |
[A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the TERT gene on chromosome 5p15.33.] |
