Night blindness, congenital stationary, type 1h

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

Symbol : CSNB1H;

CISMeF acronym : CSNB1H;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the guanine nucleotide-binding protein, beta-3 gene (GNB3, 139130.0002);

Prefixed ID : #617024;

Details

Origin ID

617024;

UMLS CUI

C4310758;

Automatic exact mappings (from CISMeF team)
- GNB3 wt Allele [NCIt concept]
CISMeF manual mappings
- congenital stationary night blindness 1H [DO Concept]
DO Cross reference
- congenital stationary night blindness 1H [DO Concept]
Genes related to phenotype
- Guanine nucleotide-binding protein, beta-3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hypermetropia [HPO term]
- Mild myopia [HPO term]
- Nyctalopia [HPO term]
- Photophobia [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 1H [DO Concept]

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