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| Term | Tatton-Brown-Rahman syndrome | ID (Ontology) | DOID:0112339 (Human Disease) |
| Definition | A syndromic intellectual disability characterized by tall stature, a distinctive facial appearance, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DNMT3A gene on chromosome 2p23.3. | ||
| Also Known As | "DNMT3A overgrowth syndrome" ; "DOS" ; "Tatton-Brown-Rahman overgrowth syndrome" (for all, see Synonyms field below) | ||
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| DO.org | |||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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No relevant statements available
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autosomal genetic disease |__autosomal dominant disease_________ intellectual disability | |__syndromic intellectual disability__| Tatton-Brown-Rahman syndrome |
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| Is a |
autosomal dominant disease syndromic intellectual disability |
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External Crossreferences & Linkouts
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MIM:615879 ORDO:404443 |
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