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 ]
Term information
- Orphanet:646 (MONDO:equivalentTo)
- MESH:D052556 (Orphanet:646)
- ICD10:E75.2 (Orphanet:646)
- SCTID:66751000 (MONDO:equivalentTo)
ordo_disease
NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment.
http://identifiers.org/mesh/D052556
http://linkedlifedata.com/resource/umls/id/C0220756
http://identifiers.org/snomedct/66751000
http://www.orpha.net/ORDO/Orphanet_646
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