Microcoria, congenital

Preferred Label : Microcoria, congenital;

CISMeF acronym : MCOR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MCOR; Chromosome 13q32 deletion syndrome; Miosis, congenital;

Inheritance : Autosomal dominant;

Molecular basis : Contiguous gene syndrome caused by 35-80kb deletion of 13q21 encompassing at least TGDS (616146) and GPR180 (607787);

Prefixed ID : #156600;

Details

Origin ID

156600;

UMLS CUI

C1303009;

Automatic exact mappings (from CISMeF team)
- Congenital miosis (disorder) [SNOMED CT concept]
- Microcoria [ICD-11 More detail]
Currated CISMeF NLP mapping
- Congenital microcoria [ORDO Disease]
- Congenital miosis [HPO term]
- Microcoria, congenital [MeSH concept]
- microcoria, congenital [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Glaucoma [HPO term]
- Hypoplasia of the iris dilator muscle [HPO term]
- Microcoria [HPO term]
- Miosis [HPO term]
- Myopia [HPO term]
- Ocular hypertension [HPO term]
ORDO concept(s)
- Congenital microcoria [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital microcoria [ORDO Disease]
- Congenital miosis [HPO term]
- Congenital miosis (disorder) [SNOMED CT concept]
- Microcoria, congenital [MeSH concept]
- microcoria, congenital [MeSH Supplementary Concept]

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