Mondo Disease Ontology

Last uploaded: May 9, 2024
Preferred Name

coloboma of optic nerve
Synonyms

congenital coloboma of the optic nerve

morning glory Disc anomaly

coloboma of optic disc

optic nerve head pits, bilateral congenital

optic nerve coloboma

coloboma of optic nerve (disease)

coloboma of optic papilla

ID

http://purl.obolibrary.org/obo/MONDO_0007354

database_cross_reference

Orphanet:98947

SCTID:17541006

MESH:C535970

GARD:1438

ICD9:377.23

OMIM:120430

icd11.foundation:592278969

HP:0000588

DOID:11975

exactMatch

http://identifiers.org/mesh/C535970

http://purl.obolibrary.org/obo/Orphanet_98947

https://omim.org/entry/120430

http://purl.obolibrary.org/obo/DOID_11975

http://identifiers.org/snomedct/17541006

has material basis in germline mutation in

http://identifiers.org/hgnc/8620

has_exact_synonym

optic nerve coloboma

coloboma of optic nerve (disease)

coloboma of optic papilla

has_narrow_synonym

congenital coloboma of the optic nerve

has_related_synonym

morning glory Disc anomaly

coloboma of optic disc

optic nerve head pits, bilateral congenital

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4364

IAO_0000589

coloboma of optic nerve (disease)

id

MONDO:0007354

in_subset

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

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

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

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

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

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

label

coloboma of optic nerve

notation

MONDO:0007354

prefLabel

coloboma of optic nerve

treeView

http://purl.obolibrary.org/obo/MONDO_0001834

http://purl.obolibrary.org/obo/MONDO_0100545

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

subClassOf

http://purl.obolibrary.org/obo/MONDO_0001834

http://purl.obolibrary.org/obo/MONDO_0100545

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

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