PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Coloboma

Synonyms
Definitions

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://www.phoc.org.cn/pmo/class/PMO_00085377

Database_Cross_Reference

MSH:D003103

OMIM:606522

ICD10CM:Q13.0

MTH:NOCODE

OMIM:MTHU026549

CCPSS:1017416

OMIM:MTHU003777

SNOMEDCT_US:93390002

OMIM:120200

SNM:M-20190

SNOMEDCT_US:92828000

NDFRT:N0000000810

SNMI:D4-A0006

OMIM:MTHU026213

HPO:HP:0000589

MEDCIN:211196

MEDCIN:360537

OMIM:606608

OMIM:MTHU019860

OMIM:MTHU012405

CHV:0000003167

RCD:X77st

OMIM:MTHU042339

MDR:10009934

NCI:C98877

DO:DOID:12270

MEDCIN:11534

SNMI:DA-70340

MDR:10009937

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.

label

Coloboma

MCID

MC00003100

PMOID

PMO:00085377

prefixIRI

pmo:PMO_00085377

prefLabel

Coloboma

Synonym

Coloboma [Disease/Finding]

Congenital ocular coloboma (diagnosis)

COLOBOMA, UVEORETINAL

Coloboma, Ocular

COLOBOMA

colobomata

COLOBOMA, OCULAR

colobomas

Ocular Coloboma

Congenital ocular coloboma

COI

Coloboma of eye (disorder)

Uveoretinal Coloboma

coloboma eye

coloboma (physical finding)

Coloboma of iris, retina, and choroid

Colobomas

coloboma of eye

COI - Coloboma iris/chor/retin

coloboma of macula

ocular coloboma

Coloboma of the Eye

Coloboma NOS

Coloboma, uveoretinal

Congenital ocular coloboma, NOS

Ocular coloboma

Coloboma Of Iris, Choroid, And Retina

Coloboma of iris, choroid and retina

congenital coloboma

Coloboma iris, choroid, retina

Coloboma of eye

Coloboma of eye, NOS

Ocular colobomas

Coloboma, Uveoretinal

COI - Coloboma of iris, choroid and retina

Ocular coloboma, NOS

coloboma

Congenital ocular coloboma (disorder)

congenital coloboma (diagnosis)

COLOBOMA, OCULAR, AUTOSOMAL DOMINANT

congenital anomalies of eye ocular coloboma

COLOBOMA OF IRIS, CHOROID, AND RETINA

Colobomata

congenital ocular coloboma

Tree Number

T9.2.18.9

T9.8.3.13.9

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00036521

http://www.phoc.org.cn/pmo/class/PMO_00006419

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Delete Mapping To Ontology Source
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://purl.obolibrary.org/obo/HP_0000589 NIFSTD 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 NIFSTD 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.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