A developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm. [ Orphanet:98976 https://orcid.org/0000-0001-5208-3432 ]
Synonyms: buphthalmia Buphthalmus buphthalmos
Term information
- SCTID:204113001 (MONDO:equivalentTo)
- NCIT:C50648 (MONDO:equivalentTo)
ordo_disease, rare, nord_rare
https://github.com/monarch-initiative/mondo/issues/6877
https://github.com/monarch-initiative/mondo/issues/6744
https://github.com/monarch-initiative/mondo/issues/4069