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- B4fd0532c2c4c98720a792abec0b559de hasDbXref "NCIT:C119677" @default.
- B4fd0532c2c4c98720a792abec0b559de hasDbXref "https://github.com/monarch-initiative/mondo/issues/2632" @default.
- B4fd0532c2c4c98720a792abec0b559de type Axiom @default.
- B4fd0532c2c4c98720a792abec0b559de annotatedProperty IAO_0000115 @default.
- B4fd0532c2c4c98720a792abec0b559de annotatedSource MONDO_0013681 @default.
- B4fd0532c2c4c98720a792abec0b559de annotatedTarget "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." @default.