Night blindness, congenital stationary, autosomal dominant 3

Preferred Label : Night blindness, congenital stationary, autosomal dominant 3;

Symbol : CSNBAD3;

CISMeF acronym : CSNBAD3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Night blindness, congenital stationary, nougaret type;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the guanine nucleotide-binding protein, alpha-transducing activity polypeptide-1 gene (GNAT1, 139330.0001);

Prefixed ID : #610444;

Détails

Origin ID

610444;

UMLS CUI

C1864870;

Automatic exact mappings (from CISMeF team)
- G protein subunit alpha transducin 1 [ORDO Gene]
- G protein subunit alpha transducin 1 [HGNC gene]
- phosphodiesterase 6B [ORDO Gene]
Broader ORDO disease(s)
- Congenital stationary night blindness [ORDO Disease]
Currated CISMeF NLP mapping
- congenital stationary night blindness autosomal dominant 3 [DO Concept]
- night blindness, congenital stationary, autosomal dominant 3 [MeSH concept]
- night blindness, congenital stationary, autosomal dominant 3 [MeSH Supplementary Concept]
DO Cross reference
- congenital stationary night blindness autosomal dominant 3 [DO Concept]
Genes related to phenotype
- Guanine nucleotide-binding protein, alpha-transducing activity polypeptide 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Blindness [HPO term]
- Congenital stationary night blindness [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 3 [DO Concept]
- night blindness, congenital stationary, autosomal dominant 3 [MeSH Supplementary Concept]
- night blindness, congenital stationary, autosomal dominant 3 [MeSH concept]

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