loading...| Preferred Name | buphthalmos | |
| Synonyms |
primary congenital glaucoma 3A simple buphthalmos |
|
| Definitions |
A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss. OMIM mapping confirmed by DO. [LS]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_11211 |
|
| comment |
OMIM mapping confirmed by DO. [LS]. |
|
| alternative label |
primary congenital glaucoma 3A simple buphthalmos |
|
| database_cross_reference |
OMIM:231300 SNOMEDCT_US_2023_03_01:204116009 UMLS_CUI:C0311251 ICD9CM:743.21 |
|
| definition |
A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss. OMIM mapping confirmed by DO. [LS]. |
|
| disease has feature | ||
| has exact synonym |
primary congenital glaucoma 3A simple buphthalmos |
|
| has symptom | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:11211 |
|
| label |
buphthalmos |
|
| notation |
DOID:11211 |
|
| note |
A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss. OMIM mapping confirmed by DO. [LS]. |
|
| preferred label |
buphthalmos |
|
| prefLabel |
buphthalmos |
|
| subClassOf |