Cone dystrophy 3

Preferred Label : Cone dystrophy 3;

Symbol : COD3;

CISMeF acronym : COD3; CORD14;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Retinal cone dystrophy;

Included titles and symbols : Cone-rod dystrophy 14; CORD14;

Description : Progressive cone dystrophy usually presents in childhood or early adult life, with many patients developing rod photoreceptor involvement in later life, thereby leading to considerable overlap between progressive cone dystrophy and cone-rod dystrophy. Both progressive cone dystrophy and cone-rod dystrophy have been associated with mutation in the GUCA1A gene (Michaelides et al., 2006).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the guanylate cyclase activator 1A gene (GUCA1A, 600364.0001);

Prefixed ID : #602093;

Details

Origin ID

602093;

UMLS CUI

C1865869;

Automatic exact mappings (from CISMeF team)
- cone dystrophy [DO Concept]
- guanylate cyclase activator 1A [HGNC gene]
Currated CISMeF NLP mapping
- cone dystrophy 3 [Disease (Nov.)]
- cone dystrophy 3 [MeSH concept]
- cone dystrophy 3 [MeSH Supplementary Concept]
- cone-rod dystrophy 14 [DO Concept]
DO Cross reference
- cone-rod dystrophy 14 [DO Concept]
Genes related to phenotype
- Guanylate cyclase activator 1a [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cone/cone-rod dystrophy [HPO term]
- Macular atrophy [HPO term]
- Photophobia [HPO term]
- Progressive visual loss [HPO term]
- Reduced visual acuity [HPO term]
ORDO concept(s)
- Cone rod dystrophy [ORDO Disease]
- Progressive cone dystrophy [ORDO Disease]
See also inter- (CISMeF)
- guanylate cyclase activator 1A [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cone dystrophy 3 [MeSH Supplementary Concept]
- cone dystrophy 3 [MeSH concept]
- cone dystrophy 3 [Disease (Nov.)]
Validated automatic mappings to NTBT
- Cone rod dystrophy [ORDO Disease]

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