ZFIN Human Disease: autosomal recessive nonsyndromic deafness 84A

OBO ID: DOID:0110529

Term Name:	autosomal recessive nonsyndromic deafness 84A		Search Ontology:
Synonyms:	autosomal recessive deafness 84A autosomal recessive deafness 84A with vestibular dysfunction DFNB84A
Definition:	An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the PTPRQ gene on chromosome 12q21. https://www.ncbi.nlm.nih.gov/pubmed/20346435
References:	ICD10CM:H90.3 OMIM:613391
Ontology:	Human Disease ( DOID:0110529 )

Relationships

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

OTHER autosomal recessive nonsyndromic deafness 84A PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PTPRQ	ptprq	Deafness, autosomal recessive 84A	613391

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None