OBO ID: DOID:1927
Term Name: sphingolipidosis Search Ontology:
Synonyms:
  • sphingolipidoses
Definition: A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates. (2)
References:
  • GARD:7672
  • ICD10CM:E75.3
  • MESH:D013106
  • NCI:C117254
  • SNOMEDCT_US_2023_03_01:58459009
  • UMLS_CUI:C0037899
Ontology: Human Disease   ( DOID:1927 )
Relationships
is a type of:
has subtype:
OTHER sphingolipidosis PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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