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Summary Literature (0)
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 : gdf5

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007221 - brachydactyly type C


Other Model Organisms: AGR, 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)