Preferred Label : Glaucoma 1, open angle, p;
Symbol : GLC1P;
CISMeF acronym : GLC1P;
Type : Phenotype, molecular basis known;
Description : Glaucomas are a group of common neurodegenerative diseases of the optic nerve and
retinal ganglion cells, characterized by progressive cupping of the optic nerve head
with resultant visual field loss. Elevated intraocular pressure (IOP) is a strong
risk factor for glaucoma; however, glaucoma can occur at any IOP. The most common
form of glaucoma in the US is primary open-angle glaucoma (POAG; see 137760). POAG
that occurs with an IOP below an arbitrary threshold of 21 mm Hg is often termed 'normal
tension glaucoma' (summary by Fingert et al., 2011). For a discussion of genetic heterogeneity
of primary open angle glaucoma, see 137760.;
Inheritance : Autosomal dominant;
Molecular basis : Caused by duplication of 300kb (Chr12:64,803,839-65,098,981 (GRCh37)) on 12q14;
Prefixed ID : #177700;
Origin ID : 177700;
UMLS CUI : C3888338;
Currated CISMeF NLP mapping
- DO Cross reference
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
