Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Prader-Willi syndrome
Synonyms

Willi-Prader syndrome

Prader-Labhart-Willi syndrome
ID

http://www.limics.org/hrdo/rdfns#pat_id_139
ageOfDeath

Normal
ageOfOnset

Neonatal/infancy
altLabel

Willi-Prader syndrome

Prader-Labhart-Willi syndrome
id_MedDRA

10036476
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28snrpn%5Bti%5D+OR+%22prader-willi+syndrome%22%5BTi%5D%29+NOT+Medline%5BSB%5D%29+OR+%22prader-willi+syndrome%22%5BMeSH+Terms%5D
id_MeSH

D011218
id_MIM

176270
id_OMS

Q87.1
id_Orpha

739
id_SNOMEDCT

89392001
id_UMLS

C0032897
inheritance

Sporadic
patType

disease
prefixIRI

hrdo:pat_id_139
prefLabel

Prader-Willi syndrome
prevalence

1-5 / 10 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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http://purl.obolibrary.org/obo/MESH_D011218 BERO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/89392001 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.260.700 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00615 SNMI LOOM
http://purl.bioontology.org/ontology/OMIM/176270 OMIM LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#10026 OCHV LOOM
http://purl.jp/bio/4/id/200906011442457180 IOBC LOOM
http://localhost/plosthes.2017-1#7162 PLOSTHES LOOM
http://purl.bioontology.org/ontology/CSP/1849-7731 CRISP LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.730 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_1200678 NANDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.180.700 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0012182 OMIT LOOM
http://www.projecthalo.com/aura#Prader-Willi-Syndrome AURA LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0032897 OCHV LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_11983 NATPRO LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0032897 MEDLINEPLUS LOOM
http://www.phoc.org.cn/pmo/class/PMO_00040030 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/RCD/PKy93 RCD LOOM
http://purl.obolibrary.org/obo/MONDO_0008300 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0008300 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008300 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008300 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008300 DOVES LOOM
http://purl.obolibrary.org/obo/Prader-Willi_Syndrome NND_ND LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Prader_Willi_Syndrome CSEO LOOM
http://cbmi.med.harvard.edu/asdphenotype#Class_500 ASDPTO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D011218 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_739 ORDO LOOM
http://purl.bioontology.org/ontology/MESH/D011218 MESH LOOM
http://nanbyodata.jp/ontology/NANDO_2200411 NANDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.654.726.500.740 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.597.606.643.690 RH-MESH LOOM
http://purl.bioontology.org/ontology/ICD9CM/759.81 ICD9CM LOOM
http://purl.bioontology.org/ontology/ICD9CM/759.81 NLMVS LOOM
rgo:08741 GAMUTS LOOM
http://purl.obolibrary.org/obo/NCIT_C75463 BERO LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Prader_Willi_Syndrome APADISORDERS LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Prader_Willi_Syndrome APAONTO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75463 NCIT LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q87.11 ICD10CM LOOM
http://purl.obolibrary.org/obo/OGMD_0000072 OGMD LOOM
http://purl.obolibrary.org/obo/DOID_11983 CLO LOOM
http://purl.obolibrary.org/obo/DOID_11983 DTO LOOM
http://purl.obolibrary.org/obo/DOID_11983 DOID LOOM
http://purl.obolibrary.org/obo/DOID_11983 BAO LOOM
http://purl.obolibrary.org/obo/DOID_11983 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_11983 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_11983 FNS-H LOOM
http://purl.bioontology.org/ontology/MEDDRA/10036476 MEDDRA LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15350 DERMLEX LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Prader-Willi_Syndrome PEDTERM LOOM
http://purl.bioontology.org/ontology/RCTV2/PKy9300 RCTV2 LOOM