| 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#C118168 |
| 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 |
| Has_NICHD_Parent | |
| label |
Sphingolipidosis |
| NICHD_Hierarchy_Term |
Sphingolipidosis |
| Preferred_Name |
Sphingolipidosis |
| prefixIRI |
C117254 |
| prefLabel |
Sphingolipidosis |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0037899 |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_1927 | Human Disease Ontology 123 | LOOM | |
| http://purl.bmicc.cn/ontology/ICD11CN/5C56.0 | International Classification of Diseases, 11th Edition, China | LOOM |