Link to this page
BioAssay Ontology
Last uploaded:
January 17, 2025
Jump to:
| Preferred Name | Niemann-Pick disease | |
| Synonyms |
sphingomyelin lipidosis lipoid histiocytosis Sphingomyelinase Deficiency Disease |
|
| 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].
|
|
| has cross-reference |
UMLS_CUI:C0028064 SNOMEDCT_US_2020_03_01:58459009 NCI:C61269 MESH:D009542 ICD10CM:E75.24 GARD:13334
|
|
| has_alternative_id |
DOID:14770 DOID:0050443 DOID:0050442
|
|
| has_exact_synonym |
sphingomyelin lipidosis lipoid histiocytosis Sphingomyelinase Deficiency Disease
|
|
| has_obo_namespace |
disease_ontology
|
|
| id |
DOID:14504
|
|
| 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
|
|
| prefLabel |
Niemann-Pick disease
|
|
| textual definition |
A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.
|
|
| subClassOf |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping