Night blindness, congenital stationary, autosomal dominant 1

Preferred Label : Night blindness, congenital stationary, autosomal dominant 1;

Symbol : CSNBAD1;

CISMeF acronym : CSNBAD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Night blindness, congenital stationary, rhodopsin-related;

Prefixed ID : #610445;

Details

Origin ID

610445;

UMLS CUI

C1864869;

Automatic exact mappings (from CISMeF team)
- RHO wt Allele [NCIt concept]
- rhodopsin [ORDO Gene]
- rhodopsin [HGNC gene]
Broader ORDO disease(s)
- Congenital stationary night blindness [ORDO Disease]
Currated CISMeF NLP mapping
- congenital stationary night blindness autosomal dominant 1 [DO Concept]
- night blindness, congenital stationary, autosomal dominant 1 [MeSH concept]
- night blindness, congenital stationary, autosomal dominant 1 [MeSH Supplementary Concept]
DO Cross reference
- congenital stationary night blindness autosomal dominant 1 [DO Concept]
Genes related to phenotype
- Rhodopsin [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bone spicule pigmentation of the retina [HPO term]
- Congenital stationary night blindness [HPO term]
- Decreased light- and dark-adapted electroretinogram amplitude [HPO term]
- Visual field defect [HPO term]
ORDO concept(s)
- Congenital stationary night blindness [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- congenital stationary night blindness autosomal dominant 1 [DO Concept]
- night blindness, congenital stationary, autosomal dominant 1 [MeSH Supplementary Concept]
- night blindness, congenital stationary, autosomal dominant 1 [MeSH concept]

Keyword's position in hierarchy(ies) :

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