Mondo Disease Ontology / Mondo疾病本体

Last uploaded: August 7, 2023
Preferred Name

coloboma

Synonyms

coloboma of eye

coloboma of macula

coloboma of the eye

ocular coloboma

congenital ocular coloboma

Definitions

An abnormality in which a part of a structure in one or both eyes is missing.

ID

http://purl.obolibrary.org/obo/MONDO_0001476

database_cross_reference

DOID:12270

Orphanet:194

ICD9:743.49

NCIT:C98877

SCTID:93390002

MESH:D003103

definition

An abnormality in which a part of a structure in one or both eyes is missing.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C98877

http://identifiers.org/snomedct/93390002

http://identifiers.org/mesh/D003103

http://purl.obolibrary.org/obo/DOID_12270

has_exact_synonym

coloboma of eye

coloboma of the eye

ocular coloboma

has_narrow_synonym

coloboma of macula

congenital ocular coloboma

id

MONDO:0001476

in_subset

http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo#disease_grouping

label

coloboma

notation

MONDO:0001476

prefLabel

coloboma

treeView

http://purl.obolibrary.org/obo/MONDO_0005328

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015217

subClassOf

http://purl.obolibrary.org/obo/MONDO_0005328

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