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alpha-methylacyl-CoA racemase deficiency

^ http://purl.obolibrary.org/obo/MONDO_0013681

A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy. [ https://github.com/monarch-initiative/mondo/issues/2632 NCIT:C119677 ]

Term info

database cross reference
  • OMIM:614307 (MONDO:equivalentTo)
  • NCIT:C119677 (MONDO:equivalentTo)
  • UMLS:C3280428 (OMIM:614307)
  • DOID:0060602 (MONDO:equivalentTo)
  • EFO:1001980 (MONDO:equivalentTo)
  • SCTID:700463002 (MONDO:equivalentTo)
  • MESH:C565768 (MONDO:equivalentTo)
abbreviation
AMACRD [ OMIM:614307 MONDO:Lexical ]

abbreviation
AMACR [ NCIT:C119677 ]

definition

A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy.

exactMatch

http://purl.obolibrary.org/obo/DOID_0060602, http://identifiers.org/snomedct/700463002, https://omim.org/entry/614307, http://identifiers.org/mesh/C565768, http://purl.obolibrary.org/obo/NCIT_C119677, http://linkedlifedata.com/resource/umls/id/C3280428

has exact synonym

AMACR, AMACR deficiency, alpha-methylacyl-CoA racemase deficiency

id

MONDO:0013681

Term relations