Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Cystic fibrosis
Synonyms

CF

Mucoviscidosis
ID

http://www.limics.org/hrdo/rdfns#pat_id_49
ageOfDeath

Young adult
ageOfOnset

Neonatal/infancy
altLabel

CF

Mucoviscidosis
id_MedDRA

10011762
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22cystic+fibrosis%22%5BMeSH+Terms%5D+OR+%28%28Cystic+fibrosis%5BText+Word%5D+OR+mucoviscidosis%5BTW%5D%29+NOT+medline%5BSB%5D%29
id_MeSH

D003550
id_MIM

219700
id_OMS

E84
id_Orpha

586
id_SNOMEDCT

190905008
id_UMLS

C0010674
inheritance

Autosomal recessive
patType

disease
prefixIRI

hrdo:pat_id_49
prefLabel

Cystic fibrosis
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://www.projecthalo.com/aura#Cystic-Fibrosis AURA LOOM
http://purl.obolibrary.org/obo/DOID_1485 CLO LOOM
http://purl.obolibrary.org/obo/DOID_1485 DTO LOOM
http://purl.obolibrary.org/obo/DOID_1485 DOID LOOM
http://purl.obolibrary.org/obo/DOID_1485 BAO LOOM
http://purl.obolibrary.org/obo/DOID_1485 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1485 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_1485 ODAE LOOM
http://purl.obolibrary.org/obo/DOID_1485 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1485 FNS-H LOOM
http://purl.bioontology.org/ontology/CSP/1849-2089 CRISP LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0010674 OCHV LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036774 PMAPP-PMO LOOM
http://nanbyodata.jp/ontology/NANDO_1201021 NANDO LOOM
http://www.ebi.ac.uk/efo/EFO_0000390 CLO LOOM
http://purl.bioontology.org/ontology/ICD10/E84 ICD10 LOOM
rgo:00559 GAMUTS LOOM
http://radlex.org/RID/RID34638 RADLEX LOOM
http://pat.nichd.nih.gov/maternalconditions/C0010674 PATMHC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.614.213 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C08.381.187 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/190905008 PNADO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/190905008 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.190 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0010674 MEDLINEPLUS LOOM
http://purl.bioontology.org/ontology/LNC/LA22202-8 LOINC LOOM
http://purl.bioontology.org/ontology/LNC/MTHU021607 LOINC LOOM
http://purl.bioontology.org/ontology/ICPC2P/T99053 ICPC2P LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1485 NATPRO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID17713 DERMLEX LOOM
http://nanbyodata.jp/ontology/NANDO_2200205 NANDO LOOM
http://purl.bioontology.org/ontology/LNC/LP56779-9 LOINC LOOM
http://localhost/plosthes.2017-1#1670 PLOSTHES LOOM
http://www.radlex.org/RID/RID34638 RADLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C06.689.202 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D003550 MESH LOOM
http://www.limics.fr/ontologies/ontolurgences#FibroseKystique ONTOLURGENCES LOOM
http://purl.obolibrary.org/obo/MONDO_0009061 GCBO LOOM
http://purl.obolibrary.org/obo/MONDO_0009061 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0009061 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0009061 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0009061 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0009061 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0009061 GENEPIO LOOM
http://nanbyodata.jp/ontology/NANDO_2100035 NANDO LOOM
http://purl.bioontology.org/ontology/ICD10CM/E84 ICD10CM LOOM
http://www.orpha.net/ORDO/Orphanet_586 ORDO LOOM
http://purl.bioontology.org/ontology/RCTV2/C370.00 RCTV2 LOOM
urn:agi-folder:cystic_fibrosis BPT LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Cystic_Fibrosis PEDTERM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2975 NCIT LOOM
http://purl.bioontology.org/ontology/NLMVS/2.16.840.1.113883.3.464.1003.102.12.1002 NLMVS LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Cystic_Fibrosis APADISORDERS LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Cystic_Fibrosis APAONTO LOOM
http://purl.bioontology.org/ontology/OMIM/219700 OMIM LOOM
http://purl.bioontology.org/ontology/SNMI/D6-94800 SNMI LOOM
http://purl.obolibrary.org/obo/OMIT_0004836 OMIT LOOM
http://www.co-ode.org/ontologies/galen#CysticFibrosis GALEN LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D003550 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_1200922 NANDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10011762 MEDDRA LOOM
http://purl.obolibrary.org/obo/OMIM_219700 CCO LOOM
http://purl.jp/bio/4/id/200906061608250536 IOBC LOOM
http://identifiers.org/omim/219700 REXO LOOM
http://identifiers.org/omim/219700 GEXO LOOM
http://identifiers.org/omim/219700 RETO LOOM
http://purl.bioontology.org/ontology/ICD9CM/277.0 ICD9CM LOOM
http://purl.obolibrary.org/obo/NCIT_C2975 BERO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#3553 OCHV LOOM
http://purl.bioontology.org/ontology/RCD/C370. RCD LOOM
http://www.owl-ontologies.com/assert.owl#Cystic_fibrosis ONTOKBCF LOOM