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loading...| Preferred Name | lysosomal storage disease | |
| Synonyms |
inborn lysosomal enzyme disorder lysosomal storage metabolism disorder disorder of lysosomal enzyme |
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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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| database_cross_reference |
SNOMEDCT_US_2023_03_01:23585005 UMLS_CUI:C0085078 MESH:D016464 NCI:C61250 |
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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. |
|
| has exact synonym |
inborn lysosomal enzyme disorder lysosomal storage metabolism disorder disorder of lysosomal enzyme |
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| has_obo_namespace |
disease_ontology |
|
| id |
DOID:3211 |
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| in_subset | ||
| label |
lysosomal storage disease |
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| notation |
DOID:3211 |
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| prefLabel |
lysosomal storage disease |
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| subClassOf |
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