Usher Syndrome

Preferred Label : Usher Syndrome;

NCIt definition : A rare, autosomal recessive inherited syndrome caused by mutations in the CDH23, CLRN1, GPR98, MYO7A, PCDH15, USH1C, USH1G, and USH2A genes. It is characterized by hearing loss or deafness and progressive loss of vision. The loss of vision is the result of retinitis pigmentosa.;

Details

Origin ID

C85217;

UMLS CUI

C0271097;

Automatic exact mappings (from CISMeF team)
- Usher syndrome [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Retinitis pigmentosa-deafness syndrome [OMIM Phenotype]
- Retinitis pigmentosa-deafness syndrome (disorder) [SNOMED CT concept]
- Usher syndrome [PASCAL descriptor]
- Usher syndrome [DO Concept]
- Usher syndrome [Disease (Nov.)]
- Usher syndrome [ICD-11 Subcategory]
- Usher syndrome [ORDO Disease]
- Usher syndrome type 1 (disorder) [SNOMED CT concept]
- Usher's syndrome [MedDRA Preferred Term]
- retinitis pigmentosa-deafness syndrome [SNOMED Notion]
- retinitis pigmentosa-deafness syndrome [DO Concept]
- usher syndrome [MedlinePlus Topic]
- usher syndromes [MeSH Descriptor]
- usher syndromes [MeSH concept]
DO Cross reference
- Usher syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Retinitis pigmentosa-deafness syndrome [OMIM Phenotype]
- Retinitis pigmentosa-deafness syndrome (disorder) [SNOMED CT concept]
- Retinitis pigmentosa-deafness-ataxia syndrome (disorder) [SNOMED CT concept]
- Usher syndrome [ORDO Disease]
- Usher syndrome [DO Concept]
- Usher syndrome [Disease (Nov.)]
- Usher's syndrome [MedDRA Preferred Term]
- retinitis pigmentosa-deafness syndrome [SNOMED Notion]
- retinitis pigmentosa-deafness-ataxia syndrome [SNOMED Notion]
- usher syndrome [MedlinePlus Topic]
- usher syndromes [MeSH concept]
- usher syndromes [MeSH Descriptor]
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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