Achromatopsia 3

Preferred Label : Achromatopsia 3;

Symbol : ACHM3;

CISMeF acronym : ACHM3; RMCH1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Rod monochromacy 1; RMCH1; Total colorblindness with myopia; Pingelapese blindness; Achromatopsia with myopia; Achm1; Rod monochromatism 1;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cyclic nucleotide-gated channel, beta-3 gene (CNGB3, 605080.0001);

Prefixed ID : #262300;

Details

Origin ID

262300;

UMLS CUI

C1849792;

Automatic exact mappings (from CISMeF team)
- Achromatopsia [ORDO Disease]
- symbol withdrawn ACHM3 [HGNC gene]
Broader ORDO disease(s)
- Achromatopsia [ORDO Disease]
Currated CISMeF NLP mapping
- Achromatopsia 3 [MeSH concept]
- achromatopsia 3 [DO Concept]
- achromatopsia 3 [Disease (Nov.)]
- achromatopsia 3 [MeSH Supplementary Concept]
DO Cross reference
- achromatopsia 3 [DO Concept]
Genes related to phenotype
- Cyclic nucleotide-gated channel, beta-3 [OMIM gene]
HPO term(s)
- Achromatopsia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Dyschromatopsia [HPO term]
- High myopia [HPO term]
- Horizontal pendular nystagmus [HPO term]
- Monochromacy [HPO term]
- Photophobia [HPO term]
- Severely reduced visual acuity [HPO term]
ORDO concept(s)
- Achromatopsia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Achromatopsia 3 [MeSH concept]
- achromatopsia 3 [MeSH Supplementary Concept]
- achromatopsia 3 [DO Concept]
- achromatopsia 3 [Disease (Nov.)]

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