loading...| Preferred Name |
Lysosomal Storage Diseases |
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| Synonyms |
SECTION 6-7 DISORDERS OF LYSOSOMAL ENZYMES inborn lysosomal enzyme disorder Lysosomal Enzyme Disorders LYSOSOMAL ENZYME DIS lysosomal enzyme; defect Disorder of lysosomal enzyme LYSOSOMAL STORAGE DIS Lysosomal storage disorders |
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| Definitions |
Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates. (source : MSH) |
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| ID |
http://doe-generated-ontology.com/OntoAD#C0085078 |
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| altLabel |
SECTION 6-7 DISORDERS OF LYSOSOMAL ENZYMES inborn lysosomal enzyme disorder Lysosomal Enzyme Disorders LYSOSOMAL ENZYME DIS lysosomal enzyme; defect Disorder of lysosomal enzyme LYSOSOMAL STORAGE DIS Lysosomal storage disorders |
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| definition |
Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates. (source : MSH) |
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| has_severity | ||
| hiddenLabel |
LysosomalStorageDiseases |
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| prefixIRI |
OntoAD:C0085078 |
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| prefLabel |
Lysosomal Storage Diseases |
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| subClassOf |
http://doe-generated-ontology.com/OntoAD#C0267971 |