autosomal recessive nonsyndromic deafness 18B

Summary
Synonym
  • DFNB18B
  • autosomal recessive deafness 18B
Definition
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOG gene on chromosome 11p15.
Super Class
autosomal recessive nonsyndromic deafness
External Links
Disease Ontology
DOID:0110474
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 11 in total
Gene ID Gene Symbol Description Source
50 ACO2 aconitase 2
51 ACOX1 acyl-CoA oxidase 1
410 ARSA arylsulfatase A
5660 PSAP prosaposin
7007 TECTA tectorin alpha
22856 CHSY1 chondroitin sulfate synthase 1
25839 COG4 component of oligomeric golgi complex 4
135228 CD109 CD109 molecule
146183 OTOA otoancorin
220074 LRTOMT leucine rich transmembrane and O-methyltransferase domain containing
Displaying 1 entry
Gene ID Gene Symbol Description Source
18419 Otog otogelin
The Human Phenotype Ontology
Displaying all 5 entries
HPO ID HPO Term
HP:0000407 Sensorineural hearing impairment
HP:0001756 Vestibular hypofunction
HP:0000007 Autosomal recessive inheritance
HP:0003577 Congenital onset
HP:0000750 Delayed speech and language development
Displaying 1 entry
Gene ID Gene Symbol Description
340990 OTOG otogelin

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024