Prolonged electroretinal response suppression 1

Preferred Label : Prolonged electroretinal response suppression 1;

Symbol : PERRS1;

CISMeF acronym : PERRS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bradyopsia 1;

Prefixed ID : #608415;

Details

Origin ID

608415;

UMLS CUI

C5829874;

Automatic exact mappings (from CISMeF team)
- Bradyopsia [ICD-11 More detail]
- Bradyopsia [HPO term]
- regulator of G protein signaling 9 [ORDO Gene]
- regulator of G protein signaling 9 [HGNC gene]
- regulator of G protein signaling 9 binding protein [ORDO Gene]
- regulator of G protein signaling 9 binding protein [HGNC gene]
Currated CISMeF NLP mapping
- Bradyopsia [ORDO Disease]
- Bradyopsia (disorder) [SNOMED CT concept]
- bradyopsia [Disease (Nov.)]
- bradyopsia [DO Concept]
- prolonged electroretinal response suppression [MeSH concept]
- prolonged electroretinal response suppression [MeSH Supplementary Concept]
DO Cross reference
- bradyopsia [DO Concept]
Genes related to phenotype
- Regulator of g protein signaling 9 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bradyopsia [HPO term]
Not associated HPO term(s)
- Abnormal fundus morphology [HPO term]
- Color vision defect [HPO term]
ORDO concept(s)
- Bradyopsia [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Bradyopsia [ORDO Disease]
- Bradyopsia [HPO term]
- Bradyopsia (disorder) [SNOMED CT concept]
- bradyopsia [DO Concept]
- bradyopsia [Disease (Nov.)]
- prolonged electroretinal response suppression [MeSH Supplementary Concept]
- prolonged electroretinal response suppression [MeSH concept]

Keyword's position in hierarchy(ies) :

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