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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
|
DOID_0070021 |
[A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the TERT gene on chromosome 5p15.33.] |
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APP-related cerebral amyloid angiopathy
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DOID_0070028 |
[A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3.] |
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cerebral amyloid angiopathy
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DOID_9246 |
[An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia.] |
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ITM2B-related cerebral amyloid angiopathy 1
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DOID_0070029 |
[A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in heterozygous mutation in the ITM2B gene on chromosome 13q14.] |
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Revesz syndrome
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DOID_0070026 |
[A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12.] |
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CST3-related cerebral amyloid angiopathy
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DOID_0070027 |
[A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of the CST3 gene on chromosome 20p11.21.] |
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autosomal recessive dyskeratosis congenita 6
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DOID_0070024 |
[A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the PARN gene on chromosome 16p13.12.] |
