Jump to:
loading...
Preferred Name

coloboma
Synonyms

coloboma of macula
Definitions

Xref MGI. OMIM mapping confirmed by DO. [SN]. An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.
ID

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

Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference

OMIM:216820

SNOMEDCT_US_2023_03_01:93390002

OMIM:120200

MESH:D003103

ICD10CM:Q13.0

UMLS_CUI:C0009363

OMIM:120300

GARD:1433

NCI:C98877

ORDO:194

ORDO:98945
definition

An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.
has exact synonym

coloboma of macula

coloboma of eye

congenital ocular coloboma
has_obo_namespace

disease_ontology
id

DOID:12270
in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim
label

coloboma
notation

DOID:12270
prefLabel

coloboma
subClassOf

http://uri.neuinfo.org/nif/nifstd/birnlex_12797

http://purl.obolibrary.org/obo/DOID_5614
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_12270 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_12270 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_12270 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_12270 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_12270 MIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_12270 FNS-H SAME_URI
http://purl.obolibrary.org/obo/HP_0000589 DOID LOOM
http://purl.obolibrary.org/obo/HP_0000589 HP LOOM
http://purl.obolibrary.org/obo/HP_0000589 HHEAR LOOM
http://purl.obolibrary.org/obo/HP_0000589 UPHENO LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:0308 IFAR LOOM
http://purl.bioontology.org/ontology/LNC/LA24662-1 LOINC LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:0336 IFAR LOOM
http://purl.obolibrary.org/obo/DOID_12270 DTO LOOM
http://purl.obolibrary.org/obo/DOID_12270 DOID LOOM
http://purl.obolibrary.org/obo/DOID_12270 BAO LOOM
http://purl.obolibrary.org/obo/DOID_12270 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_12270 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_12270 FNS-H LOOM
http://purl.bioontology.org/ontology/MEDDRA/10009934 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D003103 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.250.110 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D003103 MESH LOOM
http://purl.jp/bio/4/id/200906041984704695 IOBC LOOM
http://purl.obolibrary.org/obo/OMIT_0004412 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.384.282 RH-MESH LOOM
http://purl.org/obo/owl/HP#HP_0000589 BDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0009363 OCHV LOOM
http://purl.obolibrary.org/obo/MP_0005262 MP LOOM
http://purl.obolibrary.org/obo/MP_0005262 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0005262 CHIRO LOOM
http://purl.obolibrary.org/obo/MONDO_0001476 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0001476 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0001476 KTAO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_12270 NATPRO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00085377 PMAPP-PMO LOOM
http://www.gamuts.net/entity#coloboma GAMUTS LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU012405 OMIM LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#3167 OCHV LOOM
http://purl.obolibrary.org/obo/HP_0000589 MAXO LOOM
http://purl.obolibrary.org/obo/HP_0000589 OBA LOOM
http://purl.obolibrary.org/obo/MONDO_0001476 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0001476 EFO LOOM