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| Term | Weyers acrofacial dysostosis | ID (Ontology) | DOID:0111571 (Human Disease) |
| Definition | An acrofacial dysostosis characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature that has_material_basis_in heterozygous mutation in the genes EVC2 or EVC on chromosome 4p16.2. | ||
| Also Known As | "acrofacial dysostosis, Weyers type" ; "Curry-Hall syndrome" ; "WAD" (for all, see Synonyms field below) | ||
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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__ dysostosis | |__acrofacial dysostosis_______| Weyers acrofacial dysostosis |
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| Is a |
autosomal dominant disease acrofacial dysostosis |
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External Crossreferences & Linkouts
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GARD:497 MESH:C536695 MIM:193530 ORDO:952 SNOMEDCT_US_2023_03_01:277807007 UMLS_CUI:C0457013 |
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