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 |