Experimental Factor Ontology

Last uploaded: June 18, 2024
Preferred Name

coloboma of optic nerve

Synonyms

optic nerve coloboma

coloboma of optic papilla

coloboma of optic nerve (disease)

coloboma of optic disc

morning glory Disc anomaly

optic nerve head pits, bilateral congenital

congenital coloboma of the optic nerve

ID

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

database_cross_reference

ICD9:377.23

icd11.foundation:592278969

OMIM:120430

MESH:C535970

Orphanet:98947

SCTID:17541006

DOID:11975

GARD:1438

HP:0000588

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_exact_synonym

optic nerve coloboma

coloboma of optic papilla

coloboma of optic nerve (disease)

has_narrow_synonym

congenital coloboma of the optic nerve

has_related_synonym

coloboma of optic disc

morning glory Disc anomaly

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/mondo-base#rare

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

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

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

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

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

label

coloboma of optic nerve

notation

MONDO:0007354

prefLabel

coloboma of optic nerve

subClassOf

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

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

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

Delete Subject Author Type Created
No notes to display