loading...| Preferred Name |
hereditary glaucoma |
|
| Synonyms |
glaucoma, hereditary hereditary glaucoma (disease) |
|
| 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 |
|
| database_cross_reference |
Orphanet:359 UMLS:C3711383 MESH:C580055 GARD:2486 |
|
| 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. |
|
| exactMatch |
http://linkedlifedata.com/resource/umls/id/C3711383 |
|
| has_exact_synonym |
hereditary glaucoma (disease) |
|
| has_related_synonym |
glaucoma, hereditary |
|
| id |
MONDO:0018174 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
hereditary glaucoma |
|
| notation |
MONDO:0018174 |
|
| preferred label |
hereditary glaucoma |
|
| prefLabel |
hereditary glaucoma |
|
| see also |
https://rarediseases.info.nih.gov/diseases/2486/glaucoma-hereditary |
|
| subClassOf | ||
| excluded_subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0018174 | MONDO | 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 | KTAO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0018174 | MONDO | 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 | |
| http://purl.obolibrary.org/obo/MONDO_0018174 | KTAO | LOOM |