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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Id | http://purl.obolibrary.org/obo/NCIT_C117254
http://purl.obolibrary.org/obo/NCIT_C117254
|
|---|---|
| Preferred Name | 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.
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | An inherited metabolic disorder that affects the metabolism of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. |
|---|---|
| label |
Sphingolipidosis
|
| prefLabel |
Sphingolipidosis
|
| in_subset | |
| Preferred_Name |
Sphingolipidosis
|
| Display_Name |
Sphingolipidosis
|
| UMLS_CUI |
C0037899
|
| prefixIRI |
NCIT:C117254
|
| Contributing_Source |
CTRP
NICHD
|
| subClassOf | |
| code |
C117254
|
| type | |
| Semantic_Type |
Disease or Syndrome
|
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