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Kidney Tissue Atlas Ontology
Last uploaded:
March 16, 2024
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| Id | http://purl.obolibrary.org/obo/MONDO_0002561
http://purl.obolibrary.org/obo/MONDO_0002561
|
|---|---|
| Preferred Name | lysosomal storage disease |
| 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.
|
| 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
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
lysosomal storage disease
|
|---|---|
| prefLabel |
lysosomal storage disease
|
| exactMatch |
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|
| database_cross_reference |
UMLS:C0085078
UMLS:CN205533
NCIT:C61250
Orphanet:68366
MESH:D016464
DOID:3211
SCTID:23585005
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|
| notation |
MONDO:0002561
|
| in_subset | |
| has related synonym |
phospholipidosis
|
| id |
MONDO:0002561
|
| disease has basis in dysfunction of | |
| 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.
|
| subClassOf | |
| imported from | |
| type | |
| conformsTo | |
| 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
See more
See less
|
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