Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023
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Preferred Name

choroideremia
Synonyms

TCD

Tapetochoroidal dystrophy, progressive

progressive tapetochoroidal dystrophy

choroidal sclerosis

Tapetochoroidal dystrophy

choroideremia

progressive choroidal atrophy

CHM
Definitions

Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.
ID

http://purl.obolibrary.org/obo/MONDO_0010557
altLabel

TCD

Tapetochoroidal dystrophy, progressive

progressive tapetochoroidal dystrophy

choroidal sclerosis

Tapetochoroidal dystrophy

choroideremia

progressive choroidal atrophy

CHM
definition

Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.
has_exact_synonym

Tapetochoroidal dystrophy

choroideremia

progressive choroidal atrophy

CHM
has_related_synonym

TCD

Tapetochoroidal dystrophy, progressive

progressive tapetochoroidal dystrophy

choroidal sclerosis
label

choroideremia
prefixIRI

MONDO:0010557
prefLabel

choroideremia
seeAlso

https://rarediseases.info.nih.gov/diseases/6061/choroideremia
textual definition

Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.
subClassOf

http://purl.obolibrary.org/obo/MONDO_0000425

http://purl.obolibrary.org/obo/MONDO_0001898

http://purl.obolibrary.org/obo/MONDO_0019118

http://purl.obolibrary.org/obo/MONDO_0043218
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http://purl.obolibrary.org/obo/MONDO_0010557 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0010557 EFO SAME_URI
rgo:34190 GAMUTS LOOM
http://purl.obolibrary.org/obo/MONDO_0010557 EFO LOOM
http://purl.obolibrary.org/obo/DOID_9821 CLO LOOM
http://purl.obolibrary.org/obo/DOID_9821 DOID LOOM
http://purl.obolibrary.org/obo/DOID_9821 DDSS LOOM
http://purl.obolibrary.org/obo/MONDO_0010557 MONDO LOOM
http://www.orpha.net/ORDO/Orphanet_180 ORDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_921 HRDO LOOM
http://purl.obolibrary.org/obo/HP_0001139 HP LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/IRD_4_1_1 HAMIDEHSGH LOOM
http://purl.bioontology.org/ontology/ICD10CM/H31.21 NLMVS LOOM
http://purl.bioontology.org/ontology/ICD10CM/H31.21 ICD10CM LOOM
http://purl.bioontology.org/ontology/RCD/F4355 RCD LOOM
http://purl.bioontology.org/ontology/MESH/D015794 MESH LOOM
http://purl.obolibrary.org/obo/OMIM_303100 CCO LOOM
http://www.orpha.net/ORDO/Orphanet_180 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.941.160.300 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10008791 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34469 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D015794 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0016434 OMIT LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/75241009 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.270.142 RH-MESH LOOM
http://purl.bioontology.org/ontology/ICD9CM/363.55 ICD9CM LOOM
http://purl.bioontology.org/ontology/ICD9CM/363.55 NLMVS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.322.092 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNMI/DA-71330 SNMI LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_9821 NATPRO LOOM
http://purl.obolibrary.org/obo/HP_0001139 UPHENO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.290.142 RH-MESH LOOM
http://id.nlm.nih.gov/mesh/D015794 MDM LOOM
http://purl.jp/bio/4/id/200906050409236360 IOBC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Choroideremia CSEO LOOM
http://purl.bioontology.org/ontology/OMIM/303100 OMIM LOOM
http://identifiers.org/omim/303100 REXO LOOM
http://identifiers.org/omim/303100 GEXO LOOM
http://identifiers.org/omim/303100 RETO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00085370 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/NCIT_C34469 BERO LOOM
http://purl.obolibrary.org/obo/DOID_9821 BAO LOOM
http://purl.obolibrary.org/obo/DOID_9821 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_9821 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_9821 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_9821 FNS-H LOOM