A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells. [ http://purl.obolibrary.org/obo/ECO_0007638 url:https://rarediseases.info.nih.gov/diseases/13334/niemann-pick-disease url:https://en.wikipedia.org/wiki/Niemann-Pick_disease http://purl.obolibrary.org/obo/ECO_0007637 ]
Synonyms: lipoid histiocytosis Sphingomyelinase Deficiency Disease sphingomyelin lipidosis
Term information
- UMLS_CUI:C0028064
- GARD:13334
- MESH:D009542
- NCI:C61269
- ICD10CM:E75.24
- SNOMEDCT_US_2023_03_01:58459009
DO_FlyBase_slim, DO_rare_slim, NCIthesaurus