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 |
|
has material basis in germline mutation in | ||
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 | ||
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 |
|
label |
coloboma of optic nerve |
|
notation |
MONDO:0007354 |
|
prefLabel |
coloboma of optic nerve |
|
treeView |
http://purl.obolibrary.org/obo/MONDO_0001834 |
|
subClassOf |
http://purl.obolibrary.org/obo/MONDO_0001834 |