FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Niemann-Pick disease ID (Ontology) DOID:14504 (Human Disease)
Definition A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.
Also Known As "lipoid histiocytosis" ; "sphingomyelin lipidosis" ; "Sphingomyelinase Deficiency Disease"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
Records annotated with this exact term (annotations to child terms are NOT included)
Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       9
Human Disease Models (FBhh)  DOID       1
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Relevant FlyBase reports
 Alleles Genes Human Disease Models
 Niemann-Pick disease       9      7      1
 ameliorates | Niemann-Pick disease       4       --       --
 model of | Niemann-Pick disease       5       --       --
Spanning Tree (Parents/Children)
Only view relationship: 
  lipid storage disease
   |__sphingolipidosis
       |__Niemann-Pick disease  32 rec.
           |__Niemann-Pick disease type A 4 rec.
           |__Niemann-Pick disease type B 3 rec.
           |__Niemann-Pick disease type C1 8 rec.
           |__Niemann-Pick disease type C2 7 rec.
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Is a sphingolipidosis
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Synonyms
  • "lipoid histiocytosis" EXACT
    "sphingomyelin lipidosis" EXACT
    "Sphingomyelinase Deficiency Disease" EXACT
Secondary IDs
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GARD:13334
ICD10CM:E75.24
MESH:D009542
NCI:C61269
SNOMEDCT_US_2023_03_01:58459009
UMLS_CUI:C0028064