Reactome | beta-ketothiolase deficiency

Schema > Disease > Entries

created	[InstanceEdit:9915334] Rothfels, Karen, 2024-07-04
databaseName	DOID
dbId	9915327
definition	OMIM mapping confirmed by DO. [SN].
displayName	beta-ketothiolase deficiency
identifier	14723
name	beta-ketothiolase deficiency
referenceDatabase	[ReferenceDatabase:1247631] DOID
schemaClass	Disease
synonym	3-ketothiolase deficiency 3-oxothiolase deficiency Mitochondrial acetoacetyl-CoA Thiolase deficiency 2-methyl-3-hydroxybutyricacidemia alpha-methylacetoaceticaciduria peroxisomal thiolase deficiency
url	https://www.ebi.ac.uk/ols4/ontologies/doid/terms?obo_id=DOID:14723

(disease)

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