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| Term | Opitz GBBB syndrome | ID (Ontology) | DOID:0080697 (Human Disease) |
| Definition | A syndrome that is a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects and that has_material_basis_in mutation in the MID1 gene on chromosome Xp22. | ||
| Also Known As | "Opitz G/BBB Syndrome" ; "Opitz GBBB syndrome type I" | ||
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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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X-linked monogenic disease |__X-linked recessive disease__ disease | |__syndrome____________________| Opitz GBBB syndrome |
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| Is a |
X-linked recessive disease syndrome |
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GARD:193 KEGG:H00583 MIM:300000 |
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