ZFIN Human Disease: autosomal recessive nonsyndromic deafness 99

OBO ID: DOID:0111634

Term Name:	autosomal recessive nonsyndromic deafness 99		Search Ontology:
Synonyms:	autosomal recessive deafness 99 DFNB99
Definition:	An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM132E gene on chromosome 17q12. https://www.ncbi.nlm.nih.gov/pubmed/12673573
References:	OMIM:618481
Ontology:	Human Disease ( DOID:0111634 )

Relationships

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

OTHER autosomal recessive nonsyndromic deafness 99 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TMEM132E	tmem132e	Deafness, autosomal recessive 99	618481

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None