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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)