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congenital glaucoma

^ http://purl.obolibrary.org/obo/MONDO_0020366


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. [ https://orcid.org/0000-0001-5208-3432 Orphanet:98976 ]

Term info

database cross reference
  • NCIT:C50648 (MONDO:equivalentTo)
  • GARD:0002485 (MONDO:equivalentTo)
  • SCTID:204113001 (MONDO:equivalentTo)
Subsets

ordo_disease

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4069

comment

Editor note: check placement of subclasses

definition

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.

exactMatch

http://identifiers.org/snomedct/204113001, http://purl.obolibrary.org/obo/NCIT_C50648

has exact synonym

buphthalmia, Buphthalmus, buphthalmos

has narrow synonym

primary congenital glaucoma

id

MONDO:0020366