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Summary Literature (0)
DOID:0110972 - brachydactyly type E1

Disease Ontology Definition:A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.

Synonyms: BDE1

Xenbase Genes : hoxd13

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007223 - osseus cochlea

MIM:
MIM:113300 - BRACHYDACTYLY, TYPE E1; BDE1

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

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