Retinitis pigmentosa-deafness syndrome

Preferred Label : Retinitis pigmentosa-deafness syndrome;

CISMeF acronym : RP21; RP8;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Retinitis pigmentosa 8; RP8; Retinitis pigmentosa 21; RP21;

Prefixed ID : #500004;

Details

Origin ID

500004;

UMLS CUI

C5779620;

Automatic exact mappings (from CISMeF team)
- mitochondrially encoded tRNA-Ser (AGU/C) 2 [ORDO Gene]
Broader ORDO disease(s)
- Retinitis pigmentosa [ORDO Disease]
Currated CISMeF NLP mapping
- Retinitis pigmentosa-deafness syndrome (disorder) [SNOMED CT concept]
- Usher Syndrome [NCIt concept]
- Usher syndrome [Disease (Nov.)]
- Usher syndrome [DO Concept]
- Usher syndrome [PASCAL descriptor]
- Usher syndrome [ICD-11 Subcategory]
- Usher syndrome [ORDO Disease]
- Usher syndrome type 1 (disorder) [SNOMED CT concept]
- Usher syndrome type 3 [ORDO Disease]
- Usher's syndrome [MedDRA Preferred Term]
- retinitis pigmentosa-deafness syndrome [DO Concept]
- retinitis pigmentosa-deafness syndrome [SNOMED Notion]
- usher syndrome [MedlinePlus Topic]
- usher syndromes [MeSH Descriptor]
- usher syndromes [MeSH concept]
DO Cross reference
- retinitis pigmentosa-deafness syndrome [DO Concept]
ORDO concept(s)
- Usher syndrome [ORDO Disease]
- Usher syndrome type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Retinitis pigmentosa-deafness syndrome (disorder) [SNOMED CT concept]
- Retinitis pigmentosa-deafness-ataxia syndrome (disorder) [SNOMED CT concept]
- Usher Syndrome [NCIt 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 Descriptor]
- usher syndromes [MeSH concept]

Keyword's position in hierarchy(ies) :

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