Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Piebaldism
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_2612
ageOfDeath

Normal
ageOfOnset

Neonatal/infancy
id_Medline

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

D016116
id_MIM

172800
id_OMS

E70.3
id_Orpha

2884
id_SNOMEDCT

6479008
id_UMLS

C0080024
inheritance

Autosomal dominant
patType

disease
prefixIRI

hrdo:pat_id_2612
prefLabel

Piebaldism
prevalence

Unknown
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_3263 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0008244 MONDO LOOM
rgo:29239 GAMUTS LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85009 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.827.080.600 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#15277 OCHV LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15348 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.100.102.600 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.621.440.102.600 RH-MESH LOOM
http://purl.obolibrary.org/obo/DERMO_0000204 DERMO LOOM
http://purl.obolibrary.org/obo/NCIT_C85009 BERO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10084262 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Piebaldism CSEO LOOM
http://purl.jp/bio/4/id/200906054599919499 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.850.080.600 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_2884 ORDO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00085498 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/DOID_3263 CLO LOOM
http://purl.obolibrary.org/obo/DOID_3263 DTO LOOM
http://purl.obolibrary.org/obo/DOID_3263 DOID LOOM
http://purl.obolibrary.org/obo/DOID_3263 BAO LOOM
http://purl.obolibrary.org/obo/DOID_3263 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_3263 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_3263 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_3263 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.100.102.600 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D016116 MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0008244 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0008244 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008244 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.290.040.600 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3263 NATPRO LOOM
http://id.nlm.nih.gov/mesh/D016116 MDM LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Piebaldism RPO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0080024 OCHV LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/718122005 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D016116 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0016680 OMIT LOOM