Mondo Disease Ontology

Last uploaded: December 3, 2024
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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

UMLS:C0220756

NANDO:1200063

Orphanet:646

MEDGEN:67399

icd11.foundation:812702125

SCTID:66751000

MESH:D052556

NORD:1509

GARD:7207
definition

NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment.
has_broad_synonym

NPC
has_exact_synonym

Niemann Pick Disease Type C
id

MONDO:0018982
in_subset

http://purl.obolibrary.org/obo/mondo/mondo-simple#otar

http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder

http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare
label

Niemann-Pick disease type C
notation

MONDO:0018982
prefLabel

Niemann-Pick disease type C
skos_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://identifiers.org/medgen/67399

http://purl.obolibrary.org/obo/Orphanet_646
treeView

http://purl.obolibrary.org/obo/MONDO_0001982

http://purl.obolibrary.org/obo/MONDO_0006025
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://purl.obolibrary.org/obo/MONDO_0001982

http://purl.obolibrary.org/obo/MONDO_0006025
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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 DOVES SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018982 EFO 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 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