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Disease association ontology term - MONDO:0001982 - Niemann-Pick disease

Term summary

ID
MONDO:0001982
Name
Niemann-Pick disease
Ontology or CV name
Disease association
Definition
A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell.

Parents

Annotation

Disease association

MONDO:0001982 - Niemann-Pick disease

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Genes:

MONDO:0009756 - Niemann-Pick disease type A

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MONDO:0011871 - Niemann-Pick disease type B

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MONDO:0011873 - Niemann-Pick disease, type C2

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