Buphthalmos
Disease ID: disease_node_14334
Connections displayed (default: 10).
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| Dbxref | ICD9CM:743.21, MIM:231300, SNOMEDCT_US_2023_03_01:204116009, UMLS_CUI:C0311251 |
|---|---|
| Subclassof | DOID_11212 |
| Data Source | DOID |
| Synonyms | primary congenital glaucoma 3A, simple buphthalmos |
| Disease Has Feature | DOID_529, DOID_9282 |
| Doid Label | buphthalmos |
| Doid Description | 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]. |
| Has Symptom | SYMP_0000210 |
| Disease Node Id | disease_node_14334 |
| Doid Id | DOID_11211 |
| Label | Buphthalmos |
- Outgoing r'ship
HAS_SYMPTOMto/from Photophobia(ID:disease_node_10726;disease_node_21706) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Hydrophthalmos(ID:disease_node_4066) (Disease)