Usher syndrome type 1

Summary
Synonym
  • US1
  • USH1
Definition
An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa.
Super Class
Usher syndrome
External Links
Disease Ontology
DOID:0110826
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
412 STS steroid sulfatase
501 ALDH7A1 aldehyde dehydrogenase 7 family member A1
6120 RPE ribulose-5-phosphate-3-epimerase
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: August 19, 2024