Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Noonan syndrome
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_206
ageOfDeath

Normal
ageOfOnset

Neonatal/infancy
id_MedDRA

10029748
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Noonan+Syndrome%5BTW%5D+OR+Noonan+Syndrome%5BTIAB%5D+OR+%22noonan+syndrome%22%5BMeSH+Terms%5D
id_MeSH

D009634
id_MIM

163950

605275

609942

610733

611553

613224

613563

613706
id_OMS

Q87.1
id_Orpha

648
id_SNOMEDCT

205684007

205824006
id_UMLS

C0028326
inheritance

Autosomal dominant
patType

malformation syndrome
prefixIRI

hrdo:pat_id_206
prefLabel

Noonan syndrome
prevalence

1-5 / 10 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_8
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0018997 MONDO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039945 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/MESH/D009634 MESH LOOM
rgo:09487 GAMUTS LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00302 SNMI LOOM
http://purl.jp/bio/4/id/200906090244600730 IOBC LOOM
http://purl.obolibrary.org/obo/DERMO_0000078 DERMO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10029748 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.207.690 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3490 NATPRO LOOM
http://purl.obolibrary.org/obo/MONDO_0018997 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0018997 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018997 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0018997 KTAO LOOM
http://purl.obolibrary.org/obo/NCIT_C34854 BERO LOOM
http://nanbyodata.jp/ontology/NANDO_1200680 NANDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.240.400.784 RH-MESH LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14890 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.240.400.787 RH-MESH LOOM
http://www.co-ode.org/ontologies/galen#NoonanSyndrome GALEN LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0028326 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.621.207.690 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_3490 DTO LOOM
http://purl.obolibrary.org/obo/DOID_3490 DOID LOOM
http://purl.obolibrary.org/obo/DOID_3490 BAO LOOM
http://purl.obolibrary.org/obo/DOID_3490 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_3490 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_3490 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_3490 FNS-H LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#8767 OCHV LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34854 NCIT LOOM
http://nanbyodata.jp/ontology/NANDO_2200413 NANDO LOOM
http://www.orpha.net/ORDO/Orphanet_648 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D009634 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.280.400.787 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0010654 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.300.690 RH-MESH LOOM