Usher syndrome

Summary
Definition
A syndrome characterized by a combination of hearing loss and visual impairment.
Super Class
autosomal recessive disease syndrome
Disease Ontology
DOID:0050439
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
WikiPathways (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
4647 MYO7A myosin VIIA
7399 USH2A usherin
22901 ARSG arylsulfatase G
Related Glycoprotein

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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: April 7, 2025