Preferred Name

Synonyms

coloboma of the eye

coloboma of eye

ocular coloboma

coloboma of macula

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

NCIT:C98877

ICD9:743.49

MESH:D003103

Orphanet:194

SCTID:93390002

DOID:12270

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

http://identifiers.org/snomedct/93390002

http://identifiers.org/mesh/D003103

has_exact_synonym

coloboma of the eye

coloboma of eye

ocular coloboma

has_narrow_synonym

coloboma of macula

congenital ocular coloboma

id

MONDO:0001476

in_subset

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

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

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

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

label

coloboma

notation

MONDO:0001476

excluded_subClassOf

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

subClassOf

http://www.ebi.ac.uk/efo/EFO_0003966

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