Usher syndrome type 3A

Summary
Synonym
  • USH3A
  • Usher syndrome type IIIA
Definition
An Usher syndrome type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the CLRN1 gene on chromosome 3q25.
Super Class
Usher syndrome type 3
External Links
Disease Ontology
DOID:0110841
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
22901 ARSG arylsulfatase G
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q96EG1 Arylsulfatase G
The Human Phenotype Ontology
Displaying entries 1 - 10 of 17 in total
HPO ID HPO Term
HP:0000662 Nyctalopia
HP:0012377 Hemianopia
HP:0000512 Abnormal electroretinogram
HP:0001251 Ataxia
HP:0000407 Sensorineural hearing impairment
HP:0000738 Hallucinations
HP:0007730 Iris hypopigmentation
HP:0000572 Visual loss
HP:0000375 Abnormal cochlea morphology
HP:0000739 Anxiety
Displaying 1 entry
Gene ID Gene Symbol Description
22901 ARSG arylsulfatase G

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024