Cone-rod synaptic disorder, congenital nonprogressive

Preferred Label : Cone-rod synaptic disorder, congenital nonprogressive;

Symbol : CRSD;

CISMeF acronym : CRSD; CSNB2B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CSNB2B; Night blindness, congenital stationary, incomplete, autosomal recessive; Night blindness, congenital stationary, type 2b;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the calcium-binding protein-4 gene (CABP4, 608965.0001);

Prefixed ID : #610427;

Details

Origin ID

610427;

UMLS CUI

C4041558;

Automatic exact mappings (from CISMeF team)
- Cone-rod synaptic disorder, congenital nonprogressive [MeSH concept]
- calcium binding protein 4 [ORDO Gene]
Broader ORDO disease(s)
- Congenital stationary night blindness [ORDO Disease]
Currated CISMeF NLP mapping
- night blindness, congenital stationary, type 2B [MeSH concept]
Genes related to phenotype
- Calcium-binding protein 4 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Color vision defect [HPO term]
- Congenital stationary night blindness [HPO term]
- Electronegative electroretinogram [HPO term]
- Nystagmus [HPO term]
- Photophobia [HPO term]
- Strabismus [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Congenital stationary night blindness [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- night blindness, congenital stationary [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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