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loading...| Preferred Name |
Carnitine-Acylcarnitine Translocase Deficiency |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C133086 |
| code |
C133086 |
| Concept_In_Subset | |
| Contributing_Source |
Cellosaurus |
| DEFINITION |
An autosomal recessive condition caused by mutation(s) in the SLC25A20 gene, encoding mitochondrial carnitine/acylcarnitine carrier protein. It is characterized by cardiomyopathy, skeletal muscle damage, and liver dysfunction that results from derangement of long-chain fatty acid oxidation. |
| FULL_SYN |
Carnitine-Acylcarnitine Translocase Deficiency |
| label |
Carnitine-Acylcarnitine Translocase Deficiency |
| Preferred_Name |
Carnitine-Acylcarnitine Translocase Deficiency |
| prefixIRI |
Thesaurus:C133086 |
| prefLabel |
Carnitine-Acylcarnitine Translocase Deficiency |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0342791 |
| subClassOf |
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