Terminology Service for NFDI4Health

brachydactyly type A2

Go to external page http://purl.obolibrary.org/obo/DOID_0110965


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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

brachydactyly type A2

Synonyms
  • BDA2
  • Mohr-Wriedt type brachydactyly
  • brachymesophalangy II
database cross reference
has obo namespace

disease_ontology

id

DOID:0110965