Combined Phenotype Ontology

Last uploaded: November 18, 2021
Preferred Name

Optic disc coloboma

Synonyms

Optic disk coloboma

Optic nerve coloboma

Coloboma of optic nerve

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

UMLS:C0155299

MSH:C535970

SNOMEDCT_US:44295002

definition

A cleft of the optic nerve that extends inferiorly.

equivalentClass

http://purl.obolibrary.org/obo/MP_0010717

has exact synonym

Optic disk coloboma

Optic nerve coloboma

Coloboma of optic nerve

has_alternative_id

HP:0007997

id

HP:0000588

in_subset

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

label

Optic disc coloboma

notation

HP:0000588

prefLabel

Optic disc coloboma

subClassOf

http://purl.obolibrary.org/obo/HP_0001093

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

http://purl.obolibrary.org/obo/MP_0008259

http://purl.obolibrary.org/obo/MP_0005262

http://purl.obolibrary.org/obo/MP_0001330

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

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