Usher syndrome
Sign in to saveAlso known as Hallgren syndrome, retinitis pigmentosa-dysacusis syndrome, dystrophia retinae dysacusis syndrome, Usher-Hallgren syndrome, Usher syndromes
syndrome characterized by a combination of hearing loss and visual impairment
In the Vinony graph
Within Vinony's link graph, Usher syndrome is referenced by 185 other articles, and connects out to epidermolysis bullosa simplex, Online Mendelian Inheritance in Man and hearing loss.
Vinony files it under Ashkenazi Jews topics, Autosomal recessive disorders and Cytoskeletal defects.
Its subject is documented across 25 Wikipedia language editions.
Research
2,296 papers- Usher Syndrome: Genetics of a Human Ciliopathy.International journal of molecular sciences · 2021
- Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.Journal of medical genetics · 2012
- The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.Human genetics · 2022
- Ciliopathy: Usher Syndrome.Advances in experimental medicine and biology · 2018
- Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.Investigative ophthalmology & visual science · 2018
via PubMed
Wikidata facts
- Subclass of
- disease
Show 5 more facts
- health specialty
- ophthalmology
- NCI Thesaurus ID
- C126329
- exact match
- www.orpha.net/ORDO/Orphanet_886
- external data available at URL
- www.nanbyou.or.jp/entry/4624
- on focus list of Wikimedia project
- WikiProject Medicine
Sources (6)
via Wikidata · CC0
Connections
epidermolysis bullosa simplex
Entity
Online Mendelian Inheritance in Man
Entity
hearing loss
Entity
Charcot–Marie–Tooth disease
Entity
hereditary spherocytosis
Entity
USH1 protein network component harmonin
Protein
ADGRV1
Gene
CLRN1
Gene
United States
Country
protein
Entity
International Standard Book Number
Entity
Birmingham
Entity
gene
Entity
chromosome
Entity
amino acid
Entity
Parkinson's disease
Entity
pathology
Entity
digital object identifier
Entity
International Standard Serial Number
Entity
author
Entity