Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Alpha-thalassemia
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_50
ageOfDeath

Normal
ageOfOnset

Variable
id_MedDRA

10043390
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=alpha-thalassemia%5Bmajr%5D
id_MeSH

D017085
id_MIM

604131
id_OMS

D56.0
id_Orpha

846
id_SNOMEDCT

36467003

68913001
id_UMLS

C0002312

C1456873
inheritance

Autosomal recessive
patType

group of phenomes
prefixIRI

hrdo:pat_id_50
prefLabel

Alpha-thalassemia
prevalence

1-5 / 10 000
subClassOf

http://www.limics.org/hrdo/rdfns#pat_id_20323

http://www.limics.org/hrdo/rdfns#pat_id_12447
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/NCIT_C34368 BERO LOOM
http://purl.bioontology.org/ontology/MESH/D017085 MESH LOOM
http://purl.jp/bio/4/id/200906038771389752 IOBC LOOM
http://purl.obolibrary.org/obo/OMIM_604131 CCO LOOM
http://purl.obolibrary.org/obo/DOID_1099 CLO LOOM
http://purl.obolibrary.org/obo/DOID_1099 DOID LOOM
http://purl.obolibrary.org/obo/DOID_1099 BAO LOOM
http://purl.obolibrary.org/obo/DOID_1099 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1099 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_1099 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1099 FNS-H LOOM
http://purl.bioontology.org/ontology/OMIM/604131 OMIM LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/68913001 SNOMEDCT LOOM
http://www.orpha.net/ORDO/Orphanet_846 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_846 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_846 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_846 ORDO LOOM
http://identifiers.org/omim/604131 REXO LOOM
http://identifiers.org/omim/604131 GEXO LOOM
http://identifiers.org/omim/604131 RETO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1099 NATPRO LOOM
http://localhost/plosthes.2017-1#6395 PLOSTHES LOOM
http://id.nlm.nih.gov/mesh/D017085 MDM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34368 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Alpha_Thalassemia CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D017085 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#944 OCHV LOOM
http://purl.obolibrary.org/obo/OMIT_0017493 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.420.826.100 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0011399 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0011399 KTAO LOOM
http://purl.obolibrary.org/obo/SCDO_0000042 SCDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.365.826.100 RH-MESH LOOM
http://purl.bioontology.org/ontology/ICD10CM/D56.0 ICD10CM LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU017933 OMIM LOOM
rgo:29640 GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.070.875.100 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0002312 OCHV LOOM
http://purl.bioontology.org/ontology/ICD9CM/282.43 ICD9CM LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036633 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.071.141.150.875.100 RH-MESH LOOM