_:vb50949731 . "3-oxothiolase deficiency"@en . _:vb50949730 . "UMLS_CUI:C1533628"^^ . _:vb50949731 . _:vb50949731 . _:vb50949731 . _:vb50949733 . _:vb50949730 . "OMIM:203750"^^ . _:vb50949732 . _:vb50949730 . _:vb50949733 . . "DOID:14723"^^ . . _:vb50949734 . "disease_ontology"^^ . _:vb50949732 . _:vb50949733 . _:vb50949734 . . "2-methyl-3-hydroxybutyricacidemia"@en . _:vb50949730 . _:vb50949731 . . _:vb50949730 . "OMIM mapping confirmed by DO. [SN]."^^ . "GARD:872"^^ . "An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomitting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones."^^ . "ORDO:134"^^ . "Mitochondrial acetoacetyl-CoA Thiolase deficiency"@en . "SNOMEDCT_US_2021_09_01:238067002"^^ . _:vb50949732 . _:vb50949733 . _:vb50949734 . _:vb50949732 . _:vb50949733 . _:vb50949734 . "3-ketothiolase deficiency"@en . "alpha-methylacetoaceticaciduria"@en . _:vb50949732 . "beta-ketothiolase deficiency"^^ . "peroxisomal thiolase deficiency"@en . "MESH:C535818"^^ . _:vb50949734 .