Usher Syndrome Type 2C

Preferred Label : Usher Syndrome Type 2C;

NCIt synonyms : USH2C;

NCIt definition : An autosomal recessive sub-type of Usher syndrome caused by homozygous or compound heterozygous mutation(s) in the ADGRV1 gene, encoding adhesion G protein-coupled receptor V1. It may also result from biallelic digenic mutation(s) in ADGRV1 and PDZD7, which encodes PDZ domain-containing protein 7.;

Details

Origin ID

C153174;

UMLS CUI

C2931213;

Currated CISMeF NLP mapping
- Usher syndrome type 2C [DO Concept]
- Usher syndrome type IIc [Disease (Nov.)]
- Usher syndrome, type 2C [MeSH concept]
- Usher syndrome, type iic [OMIM Phenotype]
- usher syndrome, type 2C [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Usher syndrome type 2C [DO Concept]
- Usher syndrome type IIc [Disease (Nov.)]
- Usher syndrome, type 2C [MeSH concept]
- Usher syndrome, type iic [OMIM Phenotype]
- usher syndrome, type 2C [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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