Night blindness, congenital stationary, type1i

Preferred Label : Night blindness, congenital stationary, type1i;

Symbol : CSNB1I;

CISMeF acronym : CSNB1I;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the membrane guanylate cyclase-2D gene (GUCY2D, 600179.0012);

Prefixed ID : #618555;

Details

Origin ID

618555;

UMLS CUI

C5231408;

Genes related to phenotype
- Guanylate cyclase 2d, retinal [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Nyctalopia [HPO term]
- Tritanomaly [HPO term]
ORDO concept(s)
- Cone rod dystrophy [ORDO Disease]
See also inter- (CISMeF)
- Cone rod dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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