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: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)