Term Name: brachydactyly type A2
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 )

Relationships
is a type of: autosomal dominant disease brachydactyly