Niemann-Pick disease type C
NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment.
MONDO:0017037
obsolete secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease (obsolete MONDO:0017037)
excluded_subClassOf
MONDO:0018299
obsolete sphingolipidosis with epilepsy (obsolete MONDO:0018299)
excluded_subClassOf
MONDO:0019058
obsolete neurometabolic disease (obsolete MONDO:0019058)
excluded_subClassOf
MONDO:0020143
cerebral lipidosis with dementia
excluded_subClassOf
MONDO:0020244
obsolete unclassified primitive or secondary maculopathy (obsolete MONDO:0020244)
excluded_subClassOf
MONDO:0020257
supranuclear oculomotor palsy
excluded_subClassOf
MONDO:0001982
Niemann-Pick disease
is_a
MONDO:0006025
autosomal recessive disease
is_a
NPC
broad
Niemann Pick Disease Type C
exact
SPAPB8E5.04c