ZFIN Human Disease: autosomal recessive nonsyndromic deafness 4

OBO ID: DOID:0110498

Term Name:	autosomal recessive nonsyndromic deafness 4		Search Ontology:
Synonyms:	autosomal recessive deafness 4 with enlarged vestibular aqueduct DFNB4
Definition:	An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22. https://www.ncbi.nlm.nih.gov/pubmed/9500541
References:	ICD10CM:H90.3 OMIM:600791
Ontology:	Human Disease ( DOID:0110498 )

Relationships

is a type of:	autosomal recessive nonsyndromic deafness autosomal recessive nonsyndromic deafness Show first 5 Terms

OTHER autosomal recessive nonsyndromic deafness 4 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
FOXI1	foxi1	Enlarged vestibular aqueduct	600791
KCNJ10	kcnj10b kcnj10a	Enlarged vestibular aqueduct, digenic	600791
SLC26A4	slc26a4	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct	600791

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None