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Metadata
DOID DOID:1927
Name sphingolipidosis
Definition A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates.
https://en.wikipedia.org/wiki/Sphingolipidoses, https://www.ncbi.nlm.nih.gov/pubmed/28857617
Xrefs

GARD:7672

ICD10CM:E75.3

MESH:D013106

NCI:C117254

SNOMEDCT_US_2018_03_01:58459009

UMLS_CUI:C0037899

Subsets

NCIthesaurus

Synonyms

sphingolipidoses [EXACT]

Sphingolipidosis [EXACT]

Relationships

is_a lipid storage disease

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