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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
adult xanthogranuloma 
Erdheim-Chester disease 
Fabry disease +   
Farber lipogranulomatosis  
gangliosidosis +   
Gaucher's disease +   
hemophagocytic lymphohistiocytosis +   
juvenile xanthogranuloma 
Krabbe disease +   
metachromatic leukodystrophy +   
mucosulfatidosis  
multicentric reticulohistiocytosis 
Niemann-Pick disease +   
A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells. (DO)
reticulohistiocytic granuloma 
sea-blue histiocytosis  
Sinus Histiocytosis +   
Sulfatidosis +   

Synonyms
Exact Synonyms: Niemann Pick diseases ;   lipoid histiocytosis ;   sphingomyelin lipidosis ;   sphingomyelinase deficiencies ;   sphingomyelinase deficiency ;   sphingomyelinase deficiency disease
Narrow Synonyms: ACID SPHINGOMYELINASE DEFICIENCY
Primary IDs: MESH:D009542
Xrefs: EFO:1001380 ;   GARD:13334 ;   ICD10CM:E75.24 ;   NCI:C61269
Definition Sources: https://en.wikipedia.org/wiki/Niemann-Pick_disease "DO" "DO", https://rarediseases.info.nih.gov/diseases/13334/niemann-pick-disease "DO" "DO"

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