FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term sphingolipidosis ID (Ontology) DOID:1927 (Human Disease)
Definition A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates.
Also Known As "sphingolipidoses"
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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       3
Human Disease Models (FBhh)  DOID       1
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 Alleles Genes Human Disease Models
 sphingolipidosis       3      1      1
 model of | sphingolipidosis       3       --       --
Spanning Tree (Parents/Children)
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  lysosomal storage disease
   |__lipid storage disease
       |__sphingolipidosis  85 rec.
           |__combined saposin deficiency 7 rec.
           |__Fabry disease 5 rec.
           |__gangliosidosis 5 rec.
           |   |__GM1 gangliosidosis(+) 2 rec.
           |   |__GM2 gangliosidosis(+) 3 rec.
           |__Gaucher's disease 25 rec.
           |   |__atypical Gaucher's disease due to saposin c deficiency 1 rec.
           |   |__Gaucher's disease perinatal lethal 2 rec.
           |   |__Gaucher's disease type I 2 rec.
           |   |__Gaucher's disease type II 2 rec.
           |   |__Gaucher's disease type III(+) 2 rec.
           |__Krabbe disease
           |__metachromatic leukodystrophy 6 rec.
           |__mucosulfatidosis 2 rec.
           |__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.
           |__sea-blue histiocytosis
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Is a lipid storage disease
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Synonyms
  • "sphingolipidoses" EXACT
Secondary IDs
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GARD:7672
ICD10CM:E75.3
MESH:D013106
NCI:C117254
SNOMEDCT_US_2023_03_01:58459009
UMLS_CUI:C0037899