Cone dystrophy 4

Preferred Label : Cone dystrophy 4;

Symbol : COD4;

CISMeF acronym : ACHM5; COD4;

Type : Phenotype, molecular basis known;

Included titles and symbols : Achromatopsia 5; ACHM5;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phosphodiesterase-6C, cGMP-specific, cone, alpha prime gene (PDE6C, 600827.0001);

Prefixed ID : #613093;

Details

Origin ID

613093;

UMLS CUI

C2751308;

Currated CISMeF NLP mapping
- cone dystrophy 4 [MeSH concept]
- cone dystrophy 4 [MeSH Supplementary Concept]
Genes related to phenotype
- Phosphodiesterase 6c [OMIM gene]
HPO term(s)
- Absent foveal reflex [HPO term]
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Cone/cone-rod dystrophy [HPO term]
- Dyschromatopsia [HPO term]
- Nystagmus [HPO term]
- Photophobia [HPO term]
- Reduced visual acuity [HPO term]
- Undetectable light-adapted electroretinogram [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Achromatopsia [ORDO Disease]
- Progressive cone dystrophy [ORDO Disease]
See also inter- (CISMeF)
- phosphodiesterase 6C [ORDO Gene]
- phosphodiesterase 6C [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cone dystrophy 4 [MeSH Supplementary Concept]
- cone dystrophy 4 [MeSH concept]
Validated automatic mappings to BTNT
- Achromatopsia 5 [NCIt concept]
- achromatopsia 5 [MeSH Supplementary Concept]
- achromatopsia 5 [MeSH concept]

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