brachydactyly type A2 (DOID:0110965)
Alliance: disease page
Synonyms: BDA2; brachymesophalangy II; Mohr-Wriedt type brachydactyly
Alt IDs: OMIM:112600, MESH:C537089, ORDO:93396, UMLS_CUI:C1832702
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.