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| Term | Baraitser-Winter syndrome 2 | ID (Ontology) | DOID:0081113 (Human Disease) |
| Definition | A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25. | ||
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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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autosomal genetic disease |__autosomal dominant disease__ syndrome | |__Baraitser-Winter syndrome___| Baraitser-Winter syndrome 2 2 rec. |
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| Is a |
autosomal dominant disease Baraitser-Winter syndrome |
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External Crossreferences & Linkouts
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| MIM:614583 | |||