ZFIN Human Disease: autosomal recessive nonsyndromic deafness 49

OBO ID: DOID:0110506

Term Name:	autosomal recessive nonsyndromic deafness 49		Search Ontology:
Synonyms:	autosomal recessive deafness 49 DFNB49
Definition:	An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and has_material_basis_in mutation in the MARVELD2 gene on chromosome 5q13. https://www.ncbi.nlm.nih.gov/pubmed/18084694
References:	ICD10CM:H90.3 OMIM:610153
Ontology:	Human Disease ( DOID:0110506 )

Relationships

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

OTHER autosomal recessive nonsyndromic deafness 49 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MARVELD2	marveld2b marveld2a	Deafness, autosomal recessive 49	610153

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None