hereditary glaucoma
http://purl.obolibrary.org/obo/MONDO_0018174
Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities. [ Orphanet:359 ]
Term info
- GARD:0002486 (MONDO:equivalentTo)
- MESH:C580055 (MONDO:equivalentTo)
- Orphanet:359 (MONDO:equivalentTo)
- UMLS:CN227278 (MONDO:equivalentTo)
gard_rare, disease_grouping, ordo_group_of_disorders
Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.
http://purl.obolibrary.org/obo/Orphanet_359, http://identifiers.org/mesh/C580055, http://linkedlifedata.com/resource/umls/id/CN227278
http://purl.obolibrary.org/obo/MONDO_0015217
hereditary glaucoma (disease)
glaucoma, hereditary
MONDO:0018174
https://rarediseases.info.nih.gov/diseases/2486/glaucoma-hereditary