sphingolipidosis

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Information
Disease name
sphingolipidosis
Disease ID
DOID:1927
Description
"A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates." [url:https\://en.wikipedia.org/wiki/Sphingolipidoses, url:https\://www.ncbi.nlm.nih.gov/pubmed/28857617]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Disase is a (Disease Ontology)
DOID:9455
Cross Reference ID (Disease Ontology)
GARD:7672
Cross Reference ID (Disease Ontology)
ICD10CM:E75.3
Cross Reference ID (Disease Ontology)
MESH:D013106
Cross Reference ID (Disease Ontology)
NCI:C117254
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:58459009
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0037899
Exact Synonym (Disease Ontology)
sphingolipidoses