About: nodeID://b50949735

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An Entity of Type : owl:Axiom, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Axiom
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
Type	http://purl.obolibrary.org/obo/ECO_0007637
annotatedProperty	http://purl.obolibrary.org/obo/IAO_0000115
annotatedSource	beta-ketothiolase deficiency
annotatedTarget	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.
database_cross_reference	url:https://ghr.nlm.nih.gov/condition/beta-ketothiolase-deficiency#statistics
is topic of	Human Disease Ontology

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