Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Esophageal atresia
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_724
ageOfOnset

Neonatal/infancy
id_MedDRA

10021530

10030146
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=esophageal+atresia%5BTi%5D+OR+oesophageal+atresia%5BTi%5D+OR+%22esophageal+atresia%22%5BMH%5D
id_MeSH

D004933
id_MIM

189960
id_OMS

Q39.0

Q39.1
id_Orpha

1199
id_SNOMEDCT

204656005

26179002
id_UMLS

C0014850
inheritance

Sporadic
patType

morphological anomaly
prefixIRI

hrdo:pat_id_724
prefLabel

Esophageal atresia
prevalence

1-5 / 10 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_1
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http://purl.obolibrary.org/obo/DOID_10485 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0001044 MONDO LOOM
http://purl.obolibrary.org/obo/OMIT_0006164 OMIT LOOM
http://purl.jp/bio/4/id/200906053985395287 IOBC LOOM
http://purl.obolibrary.org/obo/HP_0002032 CCONT LOOM
http://purl.obolibrary.org/obo/HP_0002032 EFO LOOM
http://purl.obolibrary.org/obo/HP_0002032 HP LOOM
http://purl.obolibrary.org/obo/HP_0002032 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0003276 MP LOOM
http://purl.obolibrary.org/obo/MP_0003276 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0003276 CHIRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C06.405.117.260 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C87072 BERO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Esophageal_Atresia CSEO LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:1036 IFAR LOOM
http://purl.obolibrary.org/obo/DOID_10485 DOID LOOM
http://purl.obolibrary.org/obo/DOID_10485 BAO LOOM
http://purl.obolibrary.org/obo/DOID_10485 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_10485 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_10485 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_10485 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_10485 FNS-H LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU011564 OMIM LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Esophageal_Atresia PEDTERM LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036520 PMAPP-PMO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C87072 NCIT LOOM
http://purl.bioontology.org/ontology/MESH/D004933 MESH LOOM
rgo:22477 GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C06.198.330 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_10485 NATPRO LOOM
http://purl.obolibrary.org/obo/MONDO_0001044 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D004933 RH-MESH LOOM
http://id.nlm.nih.gov/mesh/D004933 MDM LOOM
http://www.orpha.net/ORDO/Orphanet_1199 ORDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0014850 OCHV LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Esophageal_atresia RPO LOOM
http://purl.org/obo/owl/HP#HP_0002032 BDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#4648 OCHV LOOM
http://purl.bioontology.org/ontology/MEDDRA/10055460 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.314.330 RH-MESH LOOM