Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Friedreich ataxia
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_45
ageOfDeath

Adult
ageOfOnset

Childhood
id_MedDRA

10017374
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22friedreich+ataxia%22%5BMeSH+Terms%5D+OR+Friedreich+ataxia%5BText+Word%5D
id_MeSH

D005621
id_MIM

229300

601992
id_OMS

G11.1
id_Orpha

95
id_SNOMEDCT

10394003
id_UMLS

C0016719
inheritance

Autosomal recessive
patType

disease
prefixIRI

hrdo:pat_id_45
prefLabel

Friedreich ataxia
prevalence

1-9 / 100 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_12705 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0100339 MONDO LOOM
urn:agi-folder:friedreich_ataxia BPT LOOM
http://www.orpha.net/ORDO/Orphanet_95 ORDO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038582 PMAPP-PMO LOOM
http://purl.jp/bio/4/id/200906072968387836 IOBC LOOM
http://purl.bioontology.org/ontology/ICD10CM/G11.11 ICD10CM LOOM
http://purl.obolibrary.org/obo/OMIM_229300 CCO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_12705 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.574.500.825.200 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84718 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.854.787.200 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0100339 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0100339 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0100339 DOVES LOOM
http://purl.obolibrary.org/obo/OGMD_0000066 OGMD LOOM
http://www.radlex.org/RID/RID5152 RADLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.660.300 RH-MESH LOOM
rgo:13244 GAMUTS LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#5262 OCHV LOOM
http://purl.obolibrary.org/obo/NCIT_C84718 BERO LOOM
http://purl.bioontology.org/ontology/OMIM/229300 OMIM LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0016719 MEDLINEPLUS LOOM
http://id.nlm.nih.gov/mesh/D005621 MDM LOOM
http://purl.obolibrary.org/obo/OMIT_0006824 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.252.700.150 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Friedreich_Ataxia CSEO LOOM
http://purl.obolibrary.org/obo/DOID_12705 CLO LOOM
http://purl.obolibrary.org/obo/DOID_12705 DTO LOOM
http://purl.obolibrary.org/obo/DOID_12705 DOID LOOM
http://purl.obolibrary.org/obo/DOID_12705 BAO LOOM
http://purl.obolibrary.org/obo/DOID_12705 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_12705 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_12705 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_12705 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D005621 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D005621 MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/10394003 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/RCD/F140. RCD LOOM
http://identifiers.org/omim/229300 REXO LOOM
http://identifiers.org/omim/229300 GEXO LOOM
http://identifiers.org/omim/229300 RETO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.400.780.200 RH-MESH LOOM