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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-1747
http://purl.bioontology.org/ontology/CSP/1849-1747
|
|---|---|
| Preferred Name | hereditary carnitine deficiency myopathy |
| Definitions |
rare genetic carnitine metabolic disorder that causes extreme muscle weakness; carnitine functions in the body as a carrier of fatty acids to the energy centers in muscles (mitochondria).
|
| Synonyms |
hereditary carnitine deficiency lipid storage myopathy
lipid storage myopathy associated with carnitine deficiency
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | rare genetic carnitine metabolic disorder that causes extreme muscle weakness; carnitine functions in the body as a carrier of fatty acids to the energy centers in muscles (mitochondria). |
|---|---|
| altLabel |
hereditary carnitine deficiency lipid storage myopathy
lipid storage myopathy associated with carnitine deficiency
|
| prefLabel | hereditary carnitine deficiency myopathy
|
| type | |
| tui | T047
|
| notation | 1849-1747
|
| Semantic type UMLS property | |
| DID | 1849-1747
|
| cui |
C0598584
C0596692
C0598585
|
| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |