OBO ID: DOID:0110965 |
Term Name: | brachydactyly type A2 | Search Ontology: | |
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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. (3) | ||
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Ontology: | Human Disease (DOID:0110965) |
OTHER brachydactyly type A2 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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