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Summary Literature (0)
DOID:0090020 - split hand-foot malformation


Disease Ontology Definition:A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting.

Synonyms: lobster-claw deformity, split-hand deformity

Xenbase Genes : tp63, wnt10b, fbxw4, dlx5, dlx6, eps15l1, sem1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0016576 - split hand-foot malformation


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

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