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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

Xenbase Genes : dlx5

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009080 - split hand-foot malformation 1 with sensorineural hearing loss

OMIM:
OMIM: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
Parent(s): split hand-foot malformation (is_a)