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primary congenital glaucoma
Disease Summary
Associated Targets (5)
Tchem
2
Tbio
2
Tclin
1
Mondo Description Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs.
Disease Ontology Description A glaucoma that is characterized by damage to the optic nerves that reduces peripheral vision and leads to blindness and has_material_basis_in mutation in the MYOC gene.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0050593
NCIT:C150251
SCTID:415176004
UMLS:C1533041
UMLS:C3888011
MONDO:0000365
High level summary of knowledge for a disease, including descriptions and datasource references.