Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Retinoblastoma
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_122
ageOfDeath

Any age
ageOfOnset

Childhood
id_MedDRA

10038916
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22retinoblastoma%22%5BMeSH+Terms%5D+OR+%28Retinoblastoma%5BTi%5D+NOT+medline%5Bsb%5D%29
id_MeSH

D012175
id_MIM

180200
id_OMS

C69.2
id_Orpha

790
id_SNOMEDCT

19906005

370967009
id_UMLS

C0035335
inheritance

Autosomal dominant

Sporadic
patType

disease
prefixIRI

hrdo:pat_id_122
prefLabel

Retinoblastoma
prevalence

1-9 / 100 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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Delete Mapping To Ontology Source
http://localhost/plosthes.2017-1#10052 PLOSTHES LOOM
http://nanbyodata.jp/ontology/NANDO_2200042 NANDO LOOM
http://purl.bioontology.org/ontology/OMIM/180200 OMIM LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/370967009 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.557.580.625.600.725 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C7541 BERO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10038916 MEDDRA LOOM
http://radlex.org/RID/RID4472 RADLEX LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#10813 OCHV LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0035335 MEDLINEPLUS LOOM
http://purl.obolibrary.org/obo/HP_0009919 HP LOOM
http://purl.obolibrary.org/obo/HP_0009919 UPHENO LOOM
http://purl.bioontology.org/ontology/MESH/D012175 MESH LOOM
http://bioontology.org/projects/ontologies/birnlex#birnlex_12635 BIRNLEX LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000043733 PDQ LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:2420 IFAR LOOM
http://www.co-ode.org/ontologies/galen#Retinoblastoma GALEN LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.557.470.670.725 RH-MESH LOOM
http://purl.bioontology.org/ontology/CSP/2018-3452 CRISP LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/19906005 SNOMEDCT LOOM
https://github.com/sap218/ocimido/blob/master/ontology/ocimido.owl#OCIMIDO_00051 OCIMIDO LOOM
http://purl.obolibrary.org/obo/OMIT_0013095 OMIT LOOM
http://purl.bioontology.org/ontology/RCD/X00eS RCD LOOM
http://purl.obolibrary.org/obo/MONDO_0008380 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0008380 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008380 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008380 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008380 DOVES LOOM
http://purl.obolibrary.org/obo/MPATH_378 MPATH LOOM
http://purl.obolibrary.org/obo/MPATH_378 UPHENO LOOM
http://purl.obolibrary.org/obo/MPATH_378 ZP LOOM
http://purl.bioontology.org/ontology/WHO/1682 WHO-ART LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7541 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D012175 RH-MESH LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Retinoblastoma PEDTERM LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0035335 OCHV LOOM
rgo:08014 GAMUTS LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12635 NIFDYS LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12635 NIFSTD LOOM
http://purl.bioontology.org/ontology/ICPC2P/F74006 ICPC2P LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_768 NATPRO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00085679 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.588.364.818.760 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_790 ORDO LOOM
http://purl.bioontology.org/ontology/LNC/LA16305-7 LOINC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.557.465.625.600.725 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_768 CLO LOOM
http://purl.obolibrary.org/obo/DOID_768 DTO LOOM
http://purl.obolibrary.org/obo/DOID_768 DOID LOOM
http://purl.obolibrary.org/obo/DOID_768 BAO LOOM
http://purl.obolibrary.org/obo/DOID_768 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_768 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_768 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_768 FNS-H LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Retinoblastoma CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.319.475.760 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.768.717.760 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU034783 OMIM LOOM