Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Down syndrome
Synonyms

Trisomia 21

Down, síndrome de

Syndrome de Down

Trisomía 21

Síndrome de Down

Trisomie 21

Trisomy 21
ID

http://www.limics.org/hrdo/rdfns#pat_id_116
ageOfDeath

Cualquier edad

Alle Alter

Qualquer idade

Tout âge

Any age

Qualsiasi età

Any age
ageOfOnset

Neonatal/infancy

Neonatale/prima infanzia

Neonatal/infância

Neonatal/infancy

Neonatal / infancia

Néonatal/petite enfance

Neonatal/Kleinkindalter
altLabel

Trisomia 21

Down, síndrome de

Syndrome de Down

Trisomía 21

Síndrome de Down

Trisomie 21

Trisomy 21
id_MedDRA

10044688
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28%22down+syndrome%22%5BTI%5D+OR+Trisomy+21%5BTi%5D+OR+21+Trisomy%5BTi%5D%29+NOT+Medline%5BSB%5D%29+OR+%22down+syndrome%22%5BMajr%5D
id_MeSH

D004314
id_MIM

190685
id_OMS

Q90
id_Orpha

870
id_SNOMEDCT

41040004
id_UMLS

C0013080
inheritance

Esporádico

Sporadic

Sporadisch

Sporadique

Sporadica

Sporadic

Esporádica
patType

malformation syndrome
prefixIRI

hrdo:pat_id_116
prefLabel

Trisomie 21

Sindrome di Down

Down syndrome

Síndrome de Down

Trissomia 21

Down-Syndrom
prevalence

1-5 / 10 000

1-5 / 10 000

1-5 / 10 000

1-5 / 10 000

1-5 / 10 000

1-5 / 10 000

1-5 / 10 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_8
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Delete Mapping To Ontology Source
http://www.ebi.ac.uk/efo/EFO_0001064 EFO LOOM
http://purl.obolibrary.org/obo/DOID_14250 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0008608 MONDO LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q90 ICD10CM LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14623 DERMLEX LOOM
http://localhost/plosthes.2017-1#5558 PLOSTHES LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0013080 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.597.606.643.220 RH-MESH LOOM
http://www.co-ode.org/ontologies/galen#DownSyndrome GALEN LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.327 RH-MESH LOOM
http://cbmi.med.harvard.edu/asdphenotype#Class_181 ASDPTO LOOM
http://www.shojaee.com/shr/shr.owl#Down_Syndrome SHR LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.260.260 RH-MESH LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Down_Syndrome PEDTERM LOOM
http://purl.obolibrary.org/obo/OGMD_0000065 OGMD LOOM
http://purl.bioontology.org/ontology/ICPC2P/A90001 ICPC2P LOOM
http://doe-generated-ontology.com/OntoAD#C0013080 ONTOAD LOOM
http://purl.bioontology.org/ontology/MESH/D004314 MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0005570 OMIT LOOM
http://www.orpha.net/ORDO/Orphanet_870 ORDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008608 DOVES LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2993 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.180.260 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_14250 DTO LOOM
http://purl.obolibrary.org/obo/DOID_14250 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14250 EPIO LOOM
http://purl.obolibrary.org/obo/DOID_14250 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14250 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14250 FNS-H LOOM
http://purl.obolibrary.org/obo/NCIT_C2993 BERO LOOM
http://www.projecthalo.com/aura#Down-Syndrome AURA LOOM
http://www.phoc.org.cn/pmo/class/PMO_00040029 PMAPP-PMO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#4101 OCHV LOOM
http://neuromorpho.org/ontologies/experimentconditionH.owl#NMOOt_244 NMOBR LOOM
http://purl.bioontology.org/ontology/OMIM/190685 OMIM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D004314 RH-MESH LOOM
http://purl.jp/bio/4/id/200906084461038234 IOBC LOOM
http://purl.obolibrary.org/obo/GSSO_001812 GSSO LOOM
http://www.semanticweb.org/mypc/ontologies/2022/11/USBirthOnto-22#DownSyndrome BIRTHONTO LOOM
http://purl.bioontology.org/ontology/LNC/LA20088-3 LOINC LOOM