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Alpha-Methylacyl-CoA Racemase Deficiency

Go to external page http://purl.obolibrary.org/obo/NCIT_C119677

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. [ ]

Term info

Label

Alpha-Methylacyl-CoA Racemase Deficiency

Synonyms
  • AMACR
  • Alpha-Methylacyl-CoA Racemase Deficiency
Subsets

NCIT_C118168, NCIT_C116977

Display Name

Alpha-Methylacyl-CoA Racemase Deficiency

Preferred Name

Alpha-Methylacyl-CoA Racemase Deficiency

Semantic Type

Disease or Syndrome

UMLS CUI

C3280428

code

C119677