Night blindness, congenital stationary, type 1b

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

Symbol : CSNB1B;

CISMeF acronym : CSNB1B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Csnb, complete, autosomal recessive; Night blindness, congenital stationary, complete, autosomal recessive;

Inheritance : Autosomal recessive;

Prefixed ID : #257270;

Détails

Origin ID

257270;

UMLS CUI

C1850362;

Automatic exact mappings (from CISMeF team)
- GRM6 wt Allele [NCIt concept]
- glutamate metabotropic receptor 6 [ORDO Gene]
- glutamate metabotropic receptor 6 [HGNC gene]
Broader ORDO disease(s)
- Congenital stationary night blindness [ORDO Disease]
Currated CISMeF NLP mapping
- congenital stationary night blindness 1B [DO Concept]
- night blindness, congenital stationary, type 1B [MeSH concept]
DO Cross reference
- congenital stationary night blindness 1B [DO Concept]
Genes related to phenotype
- Glutamate receptor, metabotropic, 6 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital stationary night blindness [HPO term]
- Hemeralopia [HPO term]
- Myopia [HPO term]
- Nyctalopia [HPO term]
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 1B [MeSH concept]
Validated automatic mappings to NTBT
- night blindness, congenital stationary [MeSH Supplementary Concept]

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