Myopia 6 - CISMeF

Preferred Label : Myopia 6;

Symbol : MYP6;

CISMeF acronym : MYP6;

Type : Phenotype, molecular basis known;

Description : Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004). For a discussion of genetic heterogeneity of susceptibility to myopia, see (160700).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homolog of the S. cerevisiae SCO2 gene (SCO2, 604272.0001);

Prefixed ID : #608908;

Details

Origin ID

608908;

UMLS CUI

C1837148;

Currated CISMeF NLP mapping
- myopia 6 [MeSH concept]
- myopia 6 [MeSH Supplementary Concept]
DO Cross reference
- myopia [DO Concept]
Genes related to phenotype
- Sco cytochrome C oxidase assembly protein 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Myopia [HPO term]
ORDO concept(s)
- Rare isolated myopia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- myopia 6 [MeSH concept]
- myopia 6 [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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