Human Phenotype Ontology

Last uploaded: July 1, 2024
Preferred Name

Optic disc coloboma

Synonyms

Coloboma of optic nerve

Optic disc coloboma

Optic nerve coloboma

Definitions

A congenital, unilateral or bilateral congenital condition caused by incomplete closure of the embryonic fissure. A cleft of the optic nerve that extends inferiorly.

ID

http://purl.obolibrary.org/obo/HP_0000588

comment

A congenital, unilateral or bilateral congenital condition caused by incomplete closure of the embryonic fissure.

database_cross_reference

SNOMEDCT_US:17541006

SNOMEDCT_US:44295002

UMLS:C0155299

definition

A cleft of the optic nerve that extends inferiorly.

has_alternative_id

HP:0007997

has_exact_synonym

Coloboma of optic nerve

Optic disc coloboma

Optic nerve coloboma

has_obo_namespace

human_phenotype

id

HP:0000588

in_subset

http://purl.obolibrary.org/obo/hp.obo#hposlim_core

label

Optic disc coloboma

notation

HP:0000588

prefLabel

Optic disc coloboma

treeView

http://purl.obolibrary.org/obo/HP_0000589

http://purl.obolibrary.org/obo/HP_0012795

subClassOf

http://purl.obolibrary.org/obo/HP_0000589

http://purl.obolibrary.org/obo/HP_0012795

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