Retinal cone dystrophy 3a

Preferred Label : Retinal cone dystrophy 3a;

Symbol : RCD3A;

CISMeF acronym : ACHM6; RCD3A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cone dystrophy with night blindness and supernormal rod responses, pde6h-related;

Included titles and symbols : Achromatopsia 6; ACHM6;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the phosphodiesterase 6H, cGMP-specific, cone, gamma gene (PDE6H, 601190.0001);

Prefixed ID : #610024;

Details

Origin ID

610024;

UMLS CUI

C1864900;

Broader ORDO disease(s)
- Cone dystrophy with supernormal rod response [ORDO Disease]
Currated CISMeF NLP mapping
- retinal cone dystrophy 3A [MeSH concept]
- retinal cone dystrophy 3A [MeSH Supplementary Concept]
DO Cross reference
- cone dystrophy [DO Concept]
Genes related to phenotype
- Phosphodiesterase 6h [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cone dystrophy [HPO term]
- Cone/cone-rod dystrophy [HPO term]
- Dyschromatopsia [HPO term]
- Nyctalopia [HPO term]
- Nystagmus [HPO term]
- Photophobia [HPO term]
- Reduced visual acuity [HPO term]
ORDO concept(s)
- Achromatopsia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- retinal cone dystrophy 3A [MeSH Supplementary Concept]
- retinal cone dystrophy 3A [MeSH concept]

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