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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 | |
| Synonyms |
type A Niemann-Pick disease sphingomyelin lipidosis lipoid histiocytosis (classical phosphatide) sphingomyelinase deficiency disease Niemann-Pick disease, subacute juvenile form lipoid histiocytosis sphingomyelin/cholesterol lipidosis Niemann-Pick disease with cholesterol esterification block |
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| Definitions |
A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0001982 |
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| altLabel |
type A Niemann-Pick disease sphingomyelin lipidosis lipoid histiocytosis (classical phosphatide) sphingomyelinase deficiency disease Niemann-Pick disease, subacute juvenile form lipoid histiocytosis sphingomyelin/cholesterol lipidosis Niemann-Pick disease with cholesterol esterification block
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|
| definition |
A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell.
|
|
| has_exact_synonym |
sphingomyelin lipidosis lipoid histiocytosis (classical phosphatide) sphingomyelinase deficiency disease Niemann-Pick disease, subacute juvenile form lipoid histiocytosis sphingomyelin/cholesterol lipidosis Niemann-Pick disease with cholesterol esterification block
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|
| has_narrow_synonym |
type A Niemann-Pick disease
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|
| label |
Niemann-Pick disease
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| prefixIRI |
MONDO:0001982
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| prefLabel |
Niemann-Pick disease
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| textual definition |
A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell.
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|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015531 |
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