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loading...| Preferred Name |
Sphingolipidosis |
| 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#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168 |
| Contributing_Source |
NICHD CTRP |
| 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 |
| prefLabel |
Sphingolipidosis |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0037899 |
| subClassOf |
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