Night blindness, congenital stationary, type 1c

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

Symbol : CSNB1C;

CISMeF acronym : CSNB1C;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Csnb, complete, autosomal recessive;

Prefixed ID : #613216;

Détails

Origin ID

613216;

UMLS CUI

C2750747;

Automatic exact mappings (from CISMeF team)
- CSNB1C [MeSH Supplementary Concept]
- transient receptor potential cation channel subfamily M member 1 [ORDO Gene]
- transient receptor potential cation channel subfamily M member 1 [HGNC gene]
Currated CISMeF NLP mapping
- CSNB1C [MeSH concept]
- congenital stationary night blindness 1C [DO Concept]
DO Cross reference
- congenital stationary night blindness 1C [DO Concept]
Genes related to phenotype
- Transient receptor potential cation channel, subfamily M, member 1 [OMIM gene]
HPO term(s)
- Abnormal electroretinogram [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital stationary night blindness [HPO term]
- Dry skin [HPO term]
- Myopia [HPO term]
- Nystagmus [HPO term]
- Reduced visual acuity [HPO term]
- Strabismus [HPO term]
Not associated HPO term(s)
- Abnormality of skin pigmentation [HPO term]
ORDO concept(s)
- Congenital stationary night blindness [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CSNB1C [MeSH Supplementary Concept]
- CSNB1C [MeSH concept]
- congenital stationary night blindness 1C [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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