split hand-foot malformation 1 with sensorineural hearing loss

Summary

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: congenital deafness with split hands and feet, SHFM1D

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: dlx5

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009080 - split hand-foot malformation 1 with sensorineural hearing loss

MONDO:0009080 - split hand-foot malformation 1 with sensorineural hearing loss

MIM:

MIM:220600 - SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL RECESSIVE; SHFM1D

MIM:220600 - SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL RECESSIVE; SHFM1D

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

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

Parent(s): autosomal recessive disease (is_a), split hand-foot malformation (is_a)