ZFIN Human Disease: split hand-foot malformation 1 with sensorineural hearing loss

OBO ID: DOID:0090024

Term Name:	split hand-foot malformation 1 with sensorineural hearing loss		Search Ontology:
Synonyms:	congenital deafness with split hands and feet SHFM1D
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. https://www.ncbi.nlm.nih.gov/pubmed/22121204
References:	ICD10CM:Q87.2 OMIM:220600 ORDO:71271
Ontology:	Human Disease ( DOID:0090024 )

Relationships

is a type of:	autosomal recessive disease split hand-foot malformation autosomal recessive disease split hand-foot malformation Show first 5 Terms

OTHER split hand-foot malformation 1 with sensorineural hearing loss PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
DLX5	dlx5a	?Split-hand/foot malformation 1 with sensorineural hearing loss	220600

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None