Term Name: | brachydactyly type A2 |
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Synonyms: | BDA2, brachymesophalangy II, Mohr-Wriedt type brachydactyly |
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. |
Ontology: | Human Disease [DOID:0110965] ( DOID:0110965 ) |