loading...| Preferred Name |
hereditary glaucoma |
|
| Synonyms |
hereditary glaucoma (disease) glaucoma, hereditary |
|
| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0018174 |
|
| conformsTo |
http://purl.obolibrary.org/obo/mondo/patterns/hereditary.yaml |
|
| database_cross_reference |
GARD:0002486 Orphanet:359 UMLS:CN227278 MESH:C580055 |
|
| exactMatch |
http://www.orpha.net/ORDO/Orphanet_359 |
|
| has exact synonym |
hereditary glaucoma (disease) |
|
| has related synonym |
glaucoma, hereditary |
|
| id |
MONDO:0018174 |
|
| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#gard_rare http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders |
|
| label |
hereditary glaucoma |
|
| notation |
MONDO:0018174 |
|
| prefLabel |
hereditary glaucoma |
|
| see also |
https://rarediseases.info.nih.gov/diseases/2486/glaucoma-hereditary |
|
| textual definition |
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. |
|
| excluded subClassOf | ||
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0018174 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0018174 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0018174 | OBA | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0018174 | DOVES | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0018174 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0018174 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0018174 | OBA | LOOM | |
| http://www.limics.org/hrdo/rdfns#pat_id_3563 | HRDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0018174 | DOVES | LOOM |