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Neuroscience Information Framework (NIF) Standard Ontology
Last uploaded:
February 10, 2018
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| Preferred Name | Niemann-Pick disease | |
| Synonyms |
Sphingomyelinase Deficiency Disease sphingomyelin lipidosis lipoid histiocytosis |
|
| 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 |
|
| comment |
OMIM mapping confirmed by DO. [SN].
|
|
| alternative label |
Sphingomyelinase Deficiency Disease sphingomyelin lipidosis lipoid histiocytosis
|
|
| database_cross_reference |
MESH:D009542 UMLS_CUI:C0028064 ICD10CM:E75.24 SNOMEDCT_US_2023_03_01:58459009 GARD:13334 NCI:C61269
|
|
| definition |
A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells. OMIM mapping confirmed by DO. [SN].
|
|
| equivalentClass | ||
| has exact synonym |
Sphingomyelinase Deficiency Disease sphingomyelin lipidosis lipoid histiocytosis
|
|
| has_alternative_id |
DOID:0050443 DOID:0050442 DOID:14770
|
|
| has_obo_namespace |
disease_ontology
|
|
| id |
DOID:14504
|
|
| in_subset |
http://purl.obolibrary.org/obo/doid#NCIthesaurus |
|
| label |
Niemann-Pick disease
|
|
| notation |
DOID:14504
|
|
| note |
A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells. OMIM mapping confirmed by DO. [SN].
|
|
| preferred label |
Niemann-Pick disease
|
|
| prefLabel |
Niemann-Pick disease
|
|
| subClassOf |
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