brachydactyly type C

Summary

DOID:0110970 - brachydactyly type C

Disease Ontology Definition:A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.

Synonyms: BDC

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: gdf5

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007221 - brachydactyly type C

MONDO:0007221 - brachydactyly type C

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)