Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Choroideremia
Synonyms

Tapetochoroidal dystrophy

CHM
ID

http://www.limics.org/hrdo/rdfns#pat_id_921
ageOfDeath

Normal
ageOfOnset

Adolescence / Young adulthood
altLabel

Tapetochoroidal dystrophy

CHM
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=choroideremia%5Bmh%5D+OR+Choroideremia%5Bti%5D
id_MeSH

D015794
id_MIM

303100
id_OMS

H31.2
id_Orpha

180
id_SNOMEDCT

75241009
id_UMLS

C0008525
inheritance

X-linked recessive
patType

disease
prefixIRI

hrdo:pat_id_921
prefLabel

Choroideremia
prevalence

1-9 / 100 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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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://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://purl.obolibrary.org/obo/MONDO_0010557 DOVES 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