Cell Culture Ontology

Last uploaded: July 23, 2014
Preferred Name

congenital glaucoma
Synonyms

primary congenital glaucoma

buphthalmos

buphthalmia

hydrophthalmos

Buphthalmus

Definitions

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.

ID

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

database_cross_reference

ICD9:743.20

MEDGEN:42532

UMLS:C0020302

SCTID:204113001

MESH:D006871

NCIT:C50648

DOID:11212

ICD9:743.2

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.

has_exact_synonym

buphthalmos

buphthalmia

hydrophthalmos

Buphthalmus

has_narrow_synonym

primary congenital glaucoma

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/7282

https://github.com/monarch-initiative/mondo/issues/6877

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

https://github.com/monarch-initiative/mondo/issues/6744

id

MONDO:0020366

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#nord_rare

label

congenital glaucoma

notation

MONDO:0020366

preferred label

congenital glaucoma

prefLabel

congenital glaucoma

skos_exactMatch

http://identifiers.org/snomedct/204113001

http://linkedlifedata.com/resource/umls/id/C0020302

http://identifiers.org/mesh/D006871

http://purl.obolibrary.org/obo/DOID_11212

http://purl.obolibrary.org/obo/NCIT_C50648

http://identifiers.org/medgen/42532

subClassOf

http://purl.obolibrary.org/obo/MONDO_0018174

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