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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Cephalin Lipidosis 
Chanarin-Dorfman syndrome +   
Familial Cardiac Lipidosis 
Farber lipogranulomatosis  
fucosidosis  
glycogen storage disease II +   
glycoproteinosis +   
lysosomal acid lipase deficiency +   
mucolipidosis +   
neuronal ceroid lipofuscinosis +   
Neurovisceral Storage Disease with Curvilinear Bodies 
Phospholipidosis  
sialuria +   
Siddiqi syndrome  
Sjogren-Larsson syndrome +   
sphingolipidosis +   
A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates. (DO)
steatotic liver disease +   
Tremor of Intention, Ataxia, and Lipofuscinosis 
xanthomatosis +   

Synonyms
Exact Synonyms: sphingolipid storage disease ;   sphingolipid storage diseases ;   sphingolipidoses
Primary IDs: MESH:D013106
Xrefs: GARD:7672 ;   ICD10CM:E75.3 ;   NCI:C117254
Definition Sources: https://en.wikipedia.org/wiki/Sphingolipidoses "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/28857617 "DO" "DO"

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