Achromatopsia 6

Preferred Label : Achromatopsia 6;

Symbol : ACHM6;

CISMeF acronym : ACHM6; RCD3A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Retinal cone dystrophy 3a; RCD3A;

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
- retinal cone dystrophy 3A [DO Concept]
Genes related to phenotype
- Phosphodiesterase 6h [OMIM gene]
HPO term(s)
- Abnormal light-adapted flicker electroretinogram [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cone dystrophy [HPO term]
- Cone/cone-rod dystrophy [HPO term]
- Dyschromatopsia [HPO term]
- High myopia [HPO term]
- Juvenile onset [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]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients