Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Niemann-Pick disease type C
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_853
ageOfOnset

Variable
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=npc1*[ti]+OR+npc2*[ti]+OR+niemann+pick+C*[tw]+OR+niemann+pick+d[tw]+OR+%28niemann+pick[ti]+%28type+d*[tw]+OR+type+c*[tw]%29%29
id_MeSH

D052556
id_OMS

E75.2
id_Orpha

646
id_SNOMEDCT

66751000
id_UMLS

C0220756
inheritance

Autosomal recessive
patType

disease
prefixIRI

hrdo:pat_id_853
prefLabel

Niemann-Pick disease type C
prevalence

1-9 / 100 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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Mapping To Ontology Source
http://purl.obolibrary.org/obo/OMIT_0025145 OMIT LOOM
http://purl.bioontology.org/ontology/RCD/X40VR RCD LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0220756 OCHV LOOM
http://purl.obolibrary.org/obo/DOID_14770 CLO LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12541 NIFDYS LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12541 NIFSTD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.398.641.803.730.875 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038568 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/SNMI/D6-74030 SNMI LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/untitled-ontology-14#IRD_6_73 HAMIDEHSGH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.435.825.700.875 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C85214 BERO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14770 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.595.554.825.700.875 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_1200063 NANDO LOOM
rgo:29686 GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.398.641.803.730.875 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.584.687.803.730.875 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.435.825.700.875 RH-MESH LOOM
http://purl.bioontology.org/ontology/HOIP/HOIP_0001535 HOIP LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D052556 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_646 ORDO LOOM
http://bioontology.org/projects/ontologies/birnlex#birnlex_12541 BIRNLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.604.250.410.625.875 RH-MESH LOOM
http://purl.obolibrary.org/obo/TXPO_0001535 TXPO LOOM
http://purl.bioontology.org/ontology/ICD10CM/E75.242 ICD10CM LOOM
http://purl.jp/bio/4/id/200906056108707323 IOBC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85214 NCIT LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/66751000 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/MONDO_0018982 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0018982 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018982 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0018982 EFO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.435.825.700.875 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D052556 MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Niemann-Pick_Disease_Type_C CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.595.554.825.700.875 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.435.825.700.875 RH-MESH LOOM