| Metadata | |
|---|---|
| ID | DOID:14504 |
| Name | Niemann-Pick disease |
| Definition | A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells. https://rarediseases.info.nih.gov/diseases/13334/niemann-pick-disease, https://en.wikipedia.org/wiki/Niemann-Pick_disease |
| Xrefs |
SNOMEDCT_US_2023_03_01:58459009 |
| Alternateids |
DOID:0050442 DOID:0050443 DOID:14770 |
| Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
| Synonyms |
lipoid histiocytosis [EXACT] sphingomyelin lipidosis [EXACT] Sphingomyelinase Deficiency Disease [EXACT] |
| Parent Relationships |
is_a sphingolipidosis |