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| Term | brachydactyly type A2 | ID (Ontology) | DOID:0110965 (Human Disease) |
| Definition | A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12. | ||
| Also Known As | "BDA2" ; "brachymesophalangy II" ; "Mohr-Wriedt type brachydactyly" | ||
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| DO.org | |||
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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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autosomal genetic disease |__autosomal dominant disease__ dysostosis | |__brachydactyly_______________| brachydactyly type A2 2 rec. |
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| Is a |
brachydactyly autosomal dominant disease |
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External Crossreferences & Linkouts
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GARD:979 MESH:C537089 MIM:112600 ORDO:93396 SNOMEDCT_US_2023_03_01:720569006 UMLS_CUI:C1832702 |
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