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| Term | orofaciodigital syndrome VIII | ID (Ontology) | DOID:0060378 (Human Disease) |
| Definition | An orofaciodigital syndrome that is characterized by tongue lobulation, hypoplasia of the epiglottis, cleft lip, polydactyly, short stature and intellectual deficit, and has_material_basis_in X-linked recessive inheritance. | ||
| Also Known As | "OFD8" | ||
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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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X-linked monogenic disease |__X-linked recessive disease__ syndrome | |__orofaciodigital syndrome____| orofaciodigital syndrome VIII |
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| Is a |
X-linked recessive disease orofaciodigital syndrome |
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External Crossreferences & Linkouts
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MESH:C557820 MIM:300484 ORDO:2755 SNOMEDCT_US_2023_03_01:722106001 UMLS_CUI:C0796101 |
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