Search Ontology:
Human Disease

Niemann-Pick disease

Term ID
DOID:14504
Synonyms
  • lipoid histiocytosis
  • sphingomyelin lipidosis
  • Sphingomyelinase Deficiency Disease
Definition
A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells. (2)
References
  • GARD:13334
  • ICD10CM:E75.24
  • MESH:D009542
  • NCI:C61269
  • SNOMEDCT_US_2023_03_01:58459009
  • UMLS_CUI:C0028064
Ontology
Human Disease   ( DOID:14504 )
Relationships
is a type of
has subtype
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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