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| Term | brachydactyly type C | ID (Ontology) | DOID:0110970 (Human Disease) |
| Definition | A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. | ||
| Also Known As | "BDC" | ||
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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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autosomal genetic disease |__autosomal dominant disease__ dysostosis | |__brachydactyly_______________| brachydactyly type C |
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| Is a |
brachydactyly autosomal dominant disease |
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External Crossreferences & Linkouts
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GARD:986 MESH:C537093 MIM:113100 ORDO:93384 SNOMEDCT_US_2023_03_01:389169005 UMLS_CUI:C1300268 UMLS_CUI:C1862103 |
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