ZFIN Human Disease: autosomal recessive nonsyndromic deafness 53

OBO ID: DOID:0110509

Term Name:	autosomal recessive nonsyndromic deafness 53		Search Ontology:
Synonyms:	autosomal recessive deafness 53 DFNB53
Definition:	An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21. https://www.ncbi.nlm.nih.gov/pubmed/16033917
References:	ICD10CM:H90.3 OMIM:609706
Ontology:	Human Disease ( DOID:0110509 )

Relationships

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

OTHER autosomal recessive nonsyndromic deafness 53 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
COL11A2	col11a2	Deafness, autosomal recessive 53	609706

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None