JSON

Niemann-Pick disease type C

Go to external page http://purl.obolibrary.org/obo/MONDO_0018982

NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment. [ http://www.ncbi.nlm.nih.gov/pubmed/21502308 ]

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:66751000 (MONDO:equivalentTo)
  • ICD10:E75.2 (Orphanet:646)
  • Orphanet:646 (MONDO:equivalentTo)
  • MESH:D052556 (Orphanet:646)
Subsets

ordo_disease

definition

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

exactMatch

http://linkedlifedata.com/resource/umls/id/C0220756

http://identifiers.org/mesh/D052556

http://identifiers.org/snomedct/66751000

http://www.orpha.net/ORDO/Orphanet_646

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0020257

http://purl.obolibrary.org/obo/MONDO_0002561

http://purl.obolibrary.org/obo/MONDO_0017037

http://purl.obolibrary.org/obo/MONDO_0020244

http://purl.obolibrary.org/obo/MONDO_0020143

http://purl.obolibrary.org/obo/MONDO_0019058

http://purl.obolibrary.org/obo/MONDO_0018299

http://purl.obolibrary.org/obo/MONDO_0019245

id

MONDO:0018982

Term relations

Subclass of: