Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Ataxia-telangiectasia
Synonyms

Louis-Bar syndrome
ID

http://www.limics.org/hrdo/rdfns#pat_id_104
ageOfDeath

Adult
ageOfOnset

Neonatal/infancy
altLabel

Louis-Bar syndrome
id_MedDRA

10003594
id_Medline

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

D001260
id_MIM

208900

208910
id_OMS

G11.3
id_Orpha

100
id_SNOMEDCT

68504005
id_UMLS

C0004135
inheritance

Autosomal recessive
patType

disease
prefixIRI

hrdo:pat_id_104
prefLabel

Ataxia-telangiectasia
prevalence

1-9 / 1 000 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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http://nanbyodata.jp/ontology/NANDO_2200705 NANDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10003594 MEDDRA LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036572 PMAPP-PMO LOOM
http://bioontology.org/projects/ontologies/birnlex#birnlex_12649 BIRNLEX LOOM
http://purl.bioontology.org/ontology/MESH/D001260 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.252.190.530.060 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0002644 OMIT LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_12704 NATPRO LOOM
http://purl.obolibrary.org/obo/DERMO_0000598 DERMO LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000042838 PDQ LOOM
http://purl.bioontology.org/ontology/CSP/0485-2495 CRISP LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.597.350.090.500.530.060 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_100 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_100 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_100 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.562.100 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/208900 OMIM LOOM
http://purl.obolibrary.org/obo/MONDO_0008840 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0008840 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008840 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008840 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.907.823.213 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D001260 RH-MESH LOOM
http://www.semanticweb.org/alan/ontologies/2013/8/untitled-ontology-9#Ataxia_Telangiectasia DLORO LOOM
http://purl.jp/bio/4/id/200906078141537445 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C20.673.290 RH-MESH LOOM
http://identifiers.org/omim/208900 REXO LOOM
http://identifiers.org/omim/208900 GEXO LOOM
http://identifiers.org/omim/208900 RETO LOOM
http://nanbyodata.jp/ontology/NANDO_1200331 NANDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.284.060 RH-MESH LOOM
http://localhost/plosthes.2017-1#2561 PLOSTHES LOOM
http://purl.bioontology.org/ontology/RCD/F14y0 RCD LOOM
http://radlex.org/RID/RID5126 RADLEX LOOM
http://purl.obolibrary.org/obo/OMIM_208900 CCO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.080 RH-MESH LOOM
http://id.nlm.nih.gov/mesh/D001260 MDM LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0004135 MEDLINEPLUS LOOM
http://purl.obolibrary.org/obo/DOID_12704 CLO LOOM
http://purl.obolibrary.org/obo/DOID_12704 DTO LOOM
http://purl.obolibrary.org/obo/DOID_12704 DOID LOOM
http://purl.obolibrary.org/obo/DOID_12704 BAO LOOM
http://purl.obolibrary.org/obo/DOID_12704 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_12704 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_12704 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_12704 FNS-H LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14433 DERMLEX LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12649 NIFDYS LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12649 NIFSTD LOOM
http://purl.bioontology.org/ontology/RCTV2/F14y000 RCTV2 LOOM
rgo:07009 GAMUTS LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#1551 OCHV LOOM