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alpha-methylacyl-CoA racemase deficiency

Go to external page 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. [ NCIT:C119677 https://github.com/monarch-initiative/mondo/issues/2632 ]

Synonyms: AMACR AMACR deficiency alpha-methylacyl-CoA racemase deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:614307 (MONDO:equivalentTo)
  • NCIT:C119677 (MONDO:equivalentTo)
  • UMLS:C3280428 (OMIM:614307)
  • MESH:C565768 (MONDO:equivalentTo)
  • GARD:15787 (OMIM:614307)
  • DOID:0060602 (MONDO:equivalentTo)
  • EFO:1001980 (MONDO:equivalentTo)
  • SCTID:700463002 (MONDO:equivalentTo)
Subsets

gard_rare, rare, clingen

exactMatch

http://purl.obolibrary.org/obo/DOID_0060602

http://identifiers.org/snomedct/700463002

https://omim.org/entry/614307

http://purl.obolibrary.org/obo/NCIT_C119677

http://identifiers.org/mesh/C565768

http://linkedlifedata.com/resource/umls/id/C3280428

id

MONDO:0013681

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0013681

Term relations