ZFIN Human Disease: autosomal recessive nonsyndromic deafness 109

OBO ID: DOID:0111639

Term Name:	autosomal recessive nonsyndromic deafness 109		Search Ontology:
Synonyms:	autosomal recessive deafness 109 DFNB109
Definition:	An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in the ESRP1 gene on chromosome 8q22.1. https://www.ncbi.nlm.nih.gov/pubmed/29107558
References:	OMIM:618013
Ontology:	Human Disease ( DOID:0111639 )

Relationships

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

OTHER autosomal recessive nonsyndromic deafness 109 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ESRP1	esrp1	?Deafness, autosomal recessive 109	618013

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None