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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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Preferred Name | Niemann-Pick disease type C | |
Synonyms |
NPC |
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Definitions |
NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment. |
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ID |
http://purl.obolibrary.org/obo/MONDO_0018982 |
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altLabel |
NPC
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definition |
NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment.
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has_broad_synonym |
NPC
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label |
Niemann-Pick disease type C
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prefixIRI |
MONDO:0018982
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prefLabel |
Niemann-Pick disease type C
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textual definition |
NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment.
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subClassOf |
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