Experimental Factor Ontology

Last uploaded: December 16, 2024

Preferred Name	Niemann-Pick disease type C
Synonyms	NPC Niemann Pick Disease Type C
Definitions	NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment.
ID	http://purl.obolibrary.org/obo/MONDO_0018982
database_cross_reference	icd11.foundation:812702125 MESH:D052556 SCTID:66751000 Orphanet:646 NANDO:1200063 MEDGEN:67399 UMLS:C0220756 GARD:7207 NORD:1509
definition	NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment.
exactMatch	http://identifiers.org/mesh/D052556 http://identifiers.org/snomedct/66751000 http://linkedlifedata.com/resource/umls/id/C0220756 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/812702125 http://www.orpha.net/ORDO/Orphanet_646 http://identifiers.org/medgen/67399
has_broad_synonym	NPC
has_exact_synonym	Niemann Pick Disease Type C
id	MONDO:0018982
in_subset	http://purl.obolibrary.org/obo/mondo#ordo_disorder http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare
label	Niemann-Pick disease type C
notation	MONDO:0018982
preferred label	Niemann-Pick disease type C
prefLabel	Niemann-Pick disease type C
excluded_subClassOf	http://purl.obolibrary.org/obo/MONDO_0017037 http://purl.obolibrary.org/obo/MONDO_0002561 http://purl.obolibrary.org/obo/MONDO_0020143 http://purl.obolibrary.org/obo/MONDO_0019058 http://purl.obolibrary.org/obo/MONDO_0020257 http://purl.obolibrary.org/obo/MONDO_0020244 http://purl.obolibrary.org/obo/MONDO_0019245 http://purl.obolibrary.org/obo/MONDO_0018299
subClassOf	http://www.ebi.ac.uk/efo/EFO_1001380 http://www.ebi.ac.uk/efo/EFO_1000017

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0018982	CCONT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018982	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018982	DOVES	SAME_URI
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://www.limics.org/hrdo/rdfns#pat_id_853	HRDO	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://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