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loading...| Preferred Name |
Alpha-Methylacyl-CoA Racemase Deficiency |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C119677 |
| code |
C119677 |
| Concept_In_Subset | |
| Contributing_Source |
CTRP |
| DEFINITION |
A rare disorder caused by mutation in the AMACR gene. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. |
| FULL_SYN |
AMACR |
| label |
Alpha-Methylacyl-CoA Racemase Deficiency |
| Preferred_Name |
Alpha-Methylacyl-CoA Racemase Deficiency |
| prefixIRI |
C119677 |
| prefLabel |
Alpha-Methylacyl-CoA Racemase Deficiency |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C3280428 |
| subClassOf |