Human Disease Ontology 123

Last uploaded: September 28, 2023
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].

database_cross_reference

ICD9CM:743.21

OMIM:231300

UMLS_CUI:C0311251

SNOMEDCT_US_2022_09_01:204116009

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.

disease has feature

http://purl.obolibrary.org/obo/DOID_9282

http://purl.obolibrary.org/obo/DOID_529

has exact synonym

primary congenital glaucoma 3A

simple buphthalmos

has symptom

http://purl.obolibrary.org/obo/SYMP_0000210

has_obo_namespace

disease_ontology

id

DOID:11211

label

buphthalmos

notation

DOID:11211

prefLabel

buphthalmos

subClassOf

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

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/HP_0000557 Human Phenotype Ontology LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU012746 Online Mendelian Inheritance in Man LOOM
http://purl.bmicc.cn/ontology/ICD11CN/LA10.2 International Classification of Diseases, 11th Edition, China LOOM