Cavitary optic disc anomalies

Preferred Label : Cavitary optic disc anomalies;

Symbol : CODA;

CISMeF acronym : CODA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in a regulatory element upstream of the matrix metalloproteinase-19 gene (MMP19, 601807.0001);

Prefixed ID : #611543;

Details

Origin ID

611543;

UMLS CUI

C1969063;

Currated CISMeF NLP mapping
- Familial cavitary optic disc anomaly [ORDO Disease]
- Familial cavitary optic disc anomaly (disorder) [SNOMED CT concept]
- cavitary optic disc anomalies [MeSH concept]
- cavitary optic disc anomalies [MeSH Supplementary Concept]
- cavitary optic disc anomaly [Disease (Nov.)]
Genes related to phenotype
- Matrix metalloproteinase 19 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Nyctalopia [HPO term]
- Peripapillary atrophy [HPO term]
- Reduced visual acuity [HPO term]
- Visual field defect [HPO term]
ORDO concept(s)
- Familial cavitary optic disc anomaly [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Familial cavitary optic disc anomaly (disorder) [SNOMED CT concept]
- cavitary optic disc anomalies [MeSH Supplementary Concept]
- cavitary optic disc anomalies [MeSH concept]
- cavitary optic disc anomaly [Disease (Nov.)]

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