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DOID:0110965 - brachydactyly type A2
Disease Ontology 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.
Synonyms: BDA2, Mohr-Wriedt type brachydactyly, brachymesophalangy II,
Echinobase Genes
:
bmpr1b,
bmp2
| MIM:112600 - brachydactyly, type a2; bda2 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
brachydactyly (is_a)