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Disease association ontology term - MONDO:0019255 - sphingolipidosis

Term summary

ID
MONDO:0019255
Name
sphingolipidosis
Ontology or CV name
Disease association
Definition
An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.

Parents

Annotation

Disease association

MONDO:0010526 - Fabry disease

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Genes:

MONDO:0018868 - metachromatic leukodystrophy

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Genes:

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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