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Summary Literature (0)
DOID:0090021 - split hand-foot malformation 1

Disease Ontology Definition:A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region.

Synonyms: SHFD1, SHFM1

Xenbase Genes : sem1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008464 - split hand-foot malformation 1

MIM:
MIM:183600 - SPLIT-HAND/FOOT MALFORMATION 1; SHFM1

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), split hand-foot malformation (is_a)