Night blindness, congenital stationary, type 1g

Preferred Label : Night blindness, congenital stationary, type 1g;

Symbol : CSNB1G;

CISMeF acronym : CSNB1G;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the guanine nucleotide-binding protein, alpha-transducing activity polypeptide-1 gene (GNAT1, 139330.0003);

Prefixed ID : #616389;

Détails

Origin ID

616389;

UMLS CUI

C4225345;

CISMeF manual mappings
- congenital stationary night blindness 1G [DO Concept]
DO Cross reference
- congenital stationary night blindness 1G [DO Concept]
Genes related to phenotype
- Guanine nucleotide-binding protein, alpha-transducing activity polypeptide 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital stationary night blindness [HPO term]
- Constriction of peripheral visual field [HPO term]
- Optic disc pallor [HPO term]
- Rod-cone dystrophy [HPO term]
- Visual impairment [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 1G [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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