Preferred Name |
Sphingolipidosis |
|
Synonyms |
Sphingolipidosis |
|
Definitions |
An inherited metabolic disorder that affects the metabolism of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. |
|
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C117254 |
|
code |
C117254 |
|
Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 |
|
Contributing_Source |
CTRP NICHD |
|
DEFINITION |
An inherited metabolic disorder that affects the metabolism of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. |
|
Display_Name |
Sphingolipidosis |
|
FULL_SYN |
Sphingolipidosis |
|
label |
Sphingolipidosis |
|
Preferred_Name |
Sphingolipidosis |
|
prefixIRI |
Thesaurus:C117254 |
|
Semantic_Type |
Disease or Syndrome |
|
UMLS_CUI |
C0037899 |
|
subClassOf |
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