Night blindness, congenital stationary, autosomal dominant 2

Preferred Label : Night blindness, congenital stationary, autosomal dominant 2;

Symbol : CSNBAD2;

CISMeF acronym : CSNBAD2;

Type : Phenotype, molecular basis known;

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

Inheritance : Autosomal dominant (4p16.3);

Prefixed ID : #163500;

Détails

Origin ID

163500;

UMLS CUI

C1876182;

Automatic exact mappings (from CISMeF team)
- phosphodiesterase 6B [ORDO Gene]
- phosphodiesterase 6B [HGNC gene]
Broader ORDO disease(s)
- Congenital stationary night blindness [ORDO Disease]
Currated CISMeF NLP mapping
- congenital stationary night blindness autosomal dominant 2 [DO Concept]
- night blindness, congenital stationary, autosomal dominant 2 [MeSH concept]
- night blindness, congenital stationary, autosomal dominant 2 [MeSH Supplementary Concept]
DO Cross reference
- congenital stationary night blindness autosomal dominant 2 [DO Concept]
Genes related to phenotype
- Phosphodiesterase 6b [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congenital night blindness [HPO term]
- Congenital stationary night blindness [HPO term]
Not associated HPO term(s)
- Abnormal fundus morphology [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 2 [DO Concept]
- night blindness, congenital stationary, autosomal dominant 2 [MeSH Supplementary Concept]
- night blindness, congenital stationary, autosomal dominant 2 [MeSH concept]

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