Glaucoma 1, open angle, a

Preferred Label : Glaucoma 1, open angle, a;

Symbol : GLC1A;

CISMeF acronym : GLC1A; GLC1L; JOAG1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glaucoma, primary open angle, juvenile-onset, 1; JOAG1;

Included titles and symbols : Glaucoma 1, open angle, L; GLC1L;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the myocilin gene (MYOC, 601652.0001);

Prefixed ID : #137750;

Details

Origin ID

137750;

UMLS CUI

C1842028;

Automatic exact mappings (from CISMeF team)
- Juvenile glaucoma [ORDO Disease]
- Pediatric-onset glaucoma of genetic origin [ORDO Disease]
- myocilin [ORDO Gene]
- symbol withdrawn GLC1A [HGNC gene]
Currated CISMeF NLP mapping
- glaucoma 1, open angle, A [MeSH concept]
- glaucoma 1, open angle, A [MeSH Supplementary Concept]
DO Cross reference
- juvenile glaucoma [DO Concept]
- open-angle glaucoma [DO Concept]
Genes related to phenotype
- Myocilin [OMIM gene]
HPO term(s)
- Abnormal iris vasculature [HPO term]
- Autosomal dominant inheritance [HPO term]
- Glaucoma [HPO term]
- Myopia [HPO term]
ORDO concept(s)
- Juvenile glaucoma [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- glaucoma 1, open angle, A [MeSH Supplementary Concept]
- glaucoma 1, open angle, A [MeSH concept]

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