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EpilepsyOntology
Last uploaded:
November 8, 2021
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| Preferred Name | Niemann-Pick disease | |
| Synonyms |
Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis |
|
| Definitions |
A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells. OMIM mapping confirmed by DO. [SN]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_14504 |
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| comment |
OMIM mapping confirmed by DO. [SN].
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|
| database_cross_reference |
MESH:D009542 UMLS_CUI:C0028064 ICD10CM:E75.24 ICD10CM:E75.249 SNOMEDCT_US_2018_03_01:58459009 GARD:13334 NCI:C61269
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| fromArticle |
true
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| has exact synonym |
Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis
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|
| has_alternative_id |
DOID:0050443 DOID:0050442 DOID:14770
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|
| has_obo_namespace |
disease_ontology
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|
| id |
DOID:14504
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| imported from | ||
| in subset |
http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim |
|
| label |
Niemann-Pick disease
|
|
| notation |
DOID:14504
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|
| prefLabel |
Niemann-Pick disease
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|
| see also | ||
| 文本定义 |
A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.
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| subClassOf |
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