Preferred Name | lysosomal storage disease | |
Synonyms |
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Definitions |
An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. |
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ID |
http://purl.obolibrary.org/obo/DOID_3211 |
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definition |
An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. |
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hasDbXref |
NCI:C61250 SNOMEDCT_US_2016_03_01:23585005 MESH:D016464 UMLS_CUI:C0085078 |
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hasExactSynonym |
disorder of lysosomal enzyme (disorder) lysosomal storage metabolism disorder inborn lysosomal enzyme disorder |
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hasOBONamespace |
disease_ontology |
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id |
DOID:3211 |
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imported from | ||
inSubset | ||
label |
lysosomal storage disease |
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prefixIRI |
DOID:3211 |
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prefLabel |
lysosomal storage disease |
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subClassOf |
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