Cone-rod dystrophy 20

Preferred Label : Cone-rod dystrophy 20;

Symbol : CORD20;

CISMeF acronym : CORD20;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the POC1B antisense RNA 1 gene (POC1B, 614784.0001);

Prefixed ID : #615973;

Details

Origin ID

615973;

UMLS CUI

C4014856;

CISMeF manual mappings
- cone-rod dystrophy 20 [DO Concept]
DO Cross reference
- cone-rod dystrophy 20 [DO Concept]
Genes related to phenotype
- Poc1 centriolar protein b [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Central scotoma [HPO term]
- Color vision defect [HPO term]
- Cone/cone-rod dystrophy [HPO term]
- Constriction of peripheral visual field [HPO term]
- Nystagmus [HPO term]
- Reduced visual acuity [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Cone rod dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cone-rod dystrophy 20 [DO Concept]
Validated automatic mappings to NTBT
- Cone rod dystrophy [ORDO Disease]

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