ZFIN Human Disease: autosomal recessive nonsyndromic deafness 1A

OBO ID: DOID:0110475

Term Name:	autosomal recessive nonsyndromic deafness 1A		Search Ontology:
Synonyms:	autosomal recessive deafness 1A DFNB1A
Definition:	An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12. https://www.ncbi.nlm.nih.gov/pubmed/9139825
References:	ICD10CM:H90.3 OMIM:220290
Ontology:	Human Disease ( DOID:0110475 )

Relationships

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

OTHER autosomal recessive nonsyndromic deafness 1A PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GJB2	gjb8	Deafness, digenic GJB2/GJB6	220290
		Deafness, autosomal recessive 1A	220290
GJB3	gjb3	Deafness, digenic, GJB2/GJB3	220290
GJB6	gjb8	Deafness, autosomal recessive 1A	220290
		Deafness, digenic GJB2/GJB6	220290

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None