Usher syndrome, type ig

Preferred Label : Usher syndrome, type ig;

Symbol : USH1G;

CISMeF acronym : USH1G;

Type : Phenotype, molecular basis known;

Description : Usher syndrome is an autosomal recessive disorder associated with sensorineural hearing impairment and progressive visual loss attributable to retinitis pigmentosa. The syndrome is both clinically and genetically heterogeneous. Of the 3 different clinical types that have been described, USH1 (276900), consisting of the association of profound congenital deafness, constant vestibular dysfunction, and prepubertal onset retinitis pigmentosa, is the most severe.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the scaffold protein containing ankyrin repeats and SAM domain gene (SANS, 607696.0001);

Prefixed ID : #606943;

Details

Origin ID

606943;

UMLS CUI

C1847089;

Automatic exact mappings (from CISMeF team)
- USH1 protein network component sans [HGNC gene]
- USH1 protein network component sans [ORDO Gene]
- USH1G Gene [NCIt concept]
- Usher Syndrome Type-1G Protein [NCIt concept]
- Usher syndrome type 1 [ORDO Disease]
- Usher syndrome type 1G [DO Concept]
Broader ORDO disease(s)
- Usher syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Usher syndrome type Ig [Disease (Nov.)]
- usher syndrome, type IG [MeSH concept]
- usher syndrome, type IG [MeSH Supplementary Concept]
DO Cross reference
- Usher syndrome type 1G [DO Concept]
Genes related to phenotype
- Ush1 protein network component sans [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hypoplasia of the nasal bone [HPO term]
- Rod-cone dystrophy [HPO term]
- Sensorineural hearing impairment [HPO term]
- Vestibular dysfunction [HPO term]
ORDO concept(s)
- Usher syndrome [ORDO Disease]
- Usher syndrome type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Usher syndrome type Ig [Disease (Nov.)]
- usher syndrome, type IG [MeSH Supplementary Concept]
- usher syndrome, type IG [MeSH concept]

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