loading...| Preferred Name | lysosomal storage disease | |
| Synonyms |
phospholipidosis lysosomal disorder disorder of lysosomal enzyme lysosome disease disorder of lysosomal enzymes lysosomal disease lysosomal storage disorder lysosomal storage metabolism disorder lysosome disorder inborn lysosomal enzyme disorder |
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| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0002561 |
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| altLabel |
phospholipidosis lysosomal disorder disorder of lysosomal enzyme lysosome disease disorder of lysosomal enzymes lysosomal disease lysosomal storage disorder lysosomal storage metabolism disorder lysosome disorder inborn lysosomal enzyme disorder |
|
| 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. |
|
| has_exact_synonym |
lysosomal disorder disorder of lysosomal enzyme lysosome disease disorder of lysosomal enzymes lysosomal disease lysosomal storage disorder lysosomal storage metabolism disorder lysosome disorder inborn lysosomal enzyme disorder |
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| has_related_synonym |
phospholipidosis |
|
| label |
lysosomal storage disease |
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| prefixIRI |
MONDO:0002561 |
|
| prefLabel |
lysosomal storage disease |
|
| textual 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. |
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| subClassOf |