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bn:01280654n
Noun Concept
Categories: Rare diseases, Citation overkill, Lipid storage disorders, Autosomal recessive disorders
EN
Niemann–Pick disease, type C  Childhood Alzheimer's  Niemann-Pick's disease type C  Niemann-Pick disease, Nova Scotian  Niemann-Pick disease, type C
EN
Niemann–Pick type C is a lysosomal storage disease associated with mutations in NPC1 and NPC2 genes. Wikipedia
Definitions
Relations
Sources
EN
Niemann–Pick type C is a lysosomal storage disease associated with mutations in NPC1 and NPC2 genes. Wikipedia
Autosomal recessive lipid storage disorder that is characterized by accumulation of cholesterol and sphingomyelins in cells of the viscera and the central nervous system Wikidata
IS A
disease
rare disease
Niemann-Pick disease
GENETIC ASSOCIATION
NPC1
NPC2
HEALTH SPECIALTY
neurology
endocrinology
NAMED AFTER
Ludwig Pick
Albert Niemann
Wikipedia
EN
Niemann–Pick disease, type C
Wikidata
EN
Niemann–Pick disease, type C
Wikipedia Redirections
EN
Childhood Alzheimer's, Niemann-Pick's disease type C, Niemann-Pick disease, Nova Scotian, Niemann-Pick disease, type C, Niemann-Pick disease, type D, Niemann-Pick disease type C, Niemann-Pick disease type D, Niemann–Pick C1 disease, Niemann–Pick C2 disease
Wikidata Alias
EN
Niemann-Pick disease, type C, Niemann–Pick C

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