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Echinobase
Summary Literature (0)
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, brachymesophalangy II, Mohr-Wriedt type brachydactyly

Echinobase Genes : bmpr1b, bmp2


MIM:
MIM:112600 - brachydactyly, type a2; bda2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), brachydactyly (is_a)