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Disease association ontology term - MONDO:0002561 - lysosomal storage disease

Term summary

ID
MONDO:0002561
Name
lysosomal storage disease
Ontology or CV name
Disease association
Definition
A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins.

Parents

Annotation

Disease association

MONDO:0002561 - lysosomal storage disease

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MONDO:0017779 - alpha-N-acetylgalactosaminidase deficiency

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MONDO:0012221 - alpha-N-acetylgalactosaminidase deficiency type 1

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MONDO:0012222 - alpha-N-acetylgalactosaminidase deficiency type 2

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MONDO:0008083 - ceroid lipofuscinosis, neuronal, 4 (Kufs type)

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MONDO:0019149 - cholesteryl ester storage disease

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MONDO:0010155 - Dorfman-Chanarin disease

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MONDO:0010526 - Fabry disease

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MONDO:0010027 - free sialic acid storage disease, infantile form

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MONDO:0009737 - galactosialidosis

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MONDO:0017694 - glycogen storage disease due to acid maltase deficiency, infantile onset

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MONDO:0018485 - glycogen storage disease due to acid maltase deficiency, late-onset

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MONDO:0009290 - glycogen storage disease II

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MONDO:0018868 - metachromatic leukodystrophy

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MONDO:0001586 - mucopolysaccharidosis type 1

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MONDO:0018938 - mucopolysaccharidosis type 4

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MONDO:0009661 - mucopolysaccharidosis type 6

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MONDO:0009744 - neuronal ceroid lipofuscinosis 1

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MONDO:0008767 - neuronal ceroid lipofuscinosis 3

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MONDO:0001982 - Niemann-Pick disease

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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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MONDO:0011449 - Salla disease

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MONDO:0010028 - sialuria

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MONDO:0019148 - Wolman disease

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