Night blindness, congenital stationary, type 2a

Preferred Label : Night blindness, congenital stationary, type 2a;

Symbol : CSNB2A;

CISMeF acronym : CSNB2; CSNB2A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Csnb, incomplete, X-linked; CSNB2; Night blindness, congenital stationary, type 2;

Inheritance : X-linked form; heterogeneous;

Prefixed ID : #300071;

Details

Origin ID

300071;

UMLS CUI

C1848172;

Automatic exact mappings (from CISMeF team)
- calcium voltage-gated channel subunit alpha1 F [ORDO Gene]
- calcium voltage-gated channel subunit alpha1 F [HGNC gene]
Broader ORDO disease(s)
- Congenital stationary night blindness [ORDO Disease]
Currated CISMeF NLP mapping
- night blindness, congenital stationary, type 2A [MeSH concept]
DO Cross reference
- congenital stationary night blindness 2A [DO Concept]
Genes related to phenotype
- Calcium channel, voltage-dependent, alpha-1f subunit [OMIM gene]
HPO term(s)
- Congenital stationary night blindness [HPO term]
- Heterogeneous [HPO term]
- Reduced visual acuity [HPO term]
- Visual impairment [HPO term]
- X-linked inheritance [HPO term]
Manual NTBT mappings (CISMeF)
- congenital stationary night blindness type 2 [Disease (Nov.)]
ORDO concept(s)
- Congenital stationary night blindness [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- night blindness, congenital stationary, type 2A [MeSH concept]
Validated automatic mappings to NTBT
- night blindness, congenital stationary [MeSH Supplementary Concept]

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