Summary Literature (0)

DOID:0090024 - split hand-foot malformation 1 with sensorineural hearing loss

Disease Ontology Definition:A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21.

Synonyms: SHFM1D, congenital deafness with split hands and feet,

Echinobase Genes :


OMIM:

MIM:220600 - split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive; shfm1d

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee