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| Term | Guttmacher syndrome | ID (Ontology) | DOID:0111544 (Human Disease) |
| Definition | A syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.2. | ||
| Also Known As | "autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias" ; "preaxial deficiency-postaxial polydactyly-hypospadias syndrome" | ||
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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__ disease | |__syndrome____________________| Guttmacher syndrome |
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autosomal dominant disease syndrome |
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External Crossreferences & Linkouts
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GARD:4470 MESH:C538278 MIM:176305 ORDO:2957 SNOMEDCT_US_2023_03_01:722452004 UMLS_CUI:C1867801 |
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