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Sphingolipidoses

Disease ID: disease_node_7022

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DbxrefGARD:7672, ICD10CM:E75.3, MESH:D013106, NCI:C117254, SNOMEDCT_US_2023_03_01:58459009, UMLS_CUI:C0037899
SubclassofDOID_9455
Data SourceDOID, MESH
Synonymssphingolipidoses
Mesh IdD013106
Mesh LabelSphingolipidoses
Mesh SubclassofD020140, D008064
Doid Labelsphingolipidosis
Doid DescriptionA lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates.
Disease Node Iddisease_node_7022
Doid IdDOID_1927
LabelSphingolipidoses