Human Phenotype Ontology / 人类表型本体

Last uploaded: September 7, 2023
Preferred Name

Optic disc coloboma

Synonyms

Coloboma of optic nerve

Optic nerve coloboma

Optic disk 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

MSH:C535970

UMLS:C0155299

SNOMEDCT_US:44295002

definition

A cleft of the optic nerve that extends inferiorly.

has_alternative_id

HP:0007997

has_exact_synonym

Coloboma of optic nerve

Optic nerve coloboma

Optic disk 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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http://purl.obolibrary.org/obo/HP_0000588 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/HP_0000588 Human Disease Ontology / 人类疾病本体 SAME_URI
http://purl.bioontology.org/ontology/OMIM/MTHU041925 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM