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Preferred Name

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C119677
code

C119677
Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168
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.
Display_Name

Alpha-Methylacyl-CoA Racemase Deficiency
FULL_SYN

Alpha-Methylacyl-CoA Racemase Deficiency

AMACR
label

Alpha-Methylacyl-CoA Racemase Deficiency
Preferred_Name

Alpha-Methylacyl-CoA Racemase Deficiency
prefixIRI

Thesaurus:C119677
Semantic_Type

Disease or Syndrome
UMLS_CUI

C3280428
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543
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