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| Term | orofaciodigital syndrome IX | ID (Ontology) | DOID:0060382 (Human Disease) |
| Definition | An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus, bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance. | ||
| Also Known As | "OFD9" ; "orofaciodigital syndrome with retinal abnormalities" | ||
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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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No relevant statements available
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autosomal genetic disease |__autosomal recessive disease__ syndrome | |__orofaciodigital syndrome_____| orofaciodigital syndrome IX |
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| Is a |
autosomal recessive disease orofaciodigital syndrome |
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External Crossreferences & Linkouts
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GARD:10520 MESH:C557818 MIM:258865 ORDO:141007 SNOMEDCT_US_2023_03_01:718680001 UMLS_CUI:C0796102 |
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