{
    "disease_id": "DOID:14723", 
    "synonyms": [
        {
            "url": "http://disease-ontology.org/term/DOID:14723", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:14723", 
            "name": "Mitochondrial acetoacetyl-CoA Thiolase deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:14723", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:14723", 
            "name": "2-methyl-3-hydroxybutyricacidemia"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:14723", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:14723", 
            "name": "peroxisomal thiolase deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:14723", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:14723", 
            "name": "3-ketothiolase deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:14723", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:14723", 
            "name": "alpha-methylacetoaceticaciduria"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:14723", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:14723", 
            "name": "3-oxothiolase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008760", 
            "description": "Beta-ketothiolase (T2) deficiency is a rare organic aciduria (see this term) affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence.", 
            "resource": "MONDO", 
            "id": "MONDO:0008760", 
            "name": "beta-ketothiolase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008760", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008760", 
            "name": "BKT"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008760", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008760", 
            "name": "mitochondrial acetoacetyl-CoA thiolase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008760", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008760", 
            "name": "mitochondrial acetoacetyl-coenzyme A thiolase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008760", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008760", 
            "name": "2-methyl-3-hydroxybutyricacidemia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008760", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008760", 
            "name": "3-Ktd deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008760", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008760", 
            "name": "ALPHA-methylacetoacetic aciduria"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008760", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008760", 
            "name": "peroxisomal thiolase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008760", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008760", 
            "name": "Beta ketothiolase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008760", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008760", 
            "name": "3-ketothiolase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008760", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008760", 
            "name": "mitochondrial acetoacetyl-Coa thiolase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008760", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008760", 
            "name": "Alpha methylacetoacetic aciduria"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008760", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008760", 
            "name": "3-oxothiolase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008760", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008760", 
            "name": "Alpha-methyl-acetoacetyl-CoA thiolase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008760", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008760", 
            "name": "Mat deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008760", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008760", 
            "name": "alpha-methylacetoaceticaciduria"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008760", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008760", 
            "name": "2-Methyl-3-hydroxybutyric acidemia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008760", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008760", 
            "name": "T2 deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008760", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008760", 
            "name": "beta-ketothiolase deficiency"
        }, 
        {
            "url": "https://www.omim.org/entry/203750", 
            "description": "3-ketothiolase deficiency", 
            "resource": "MIM", 
            "id": "MIM:203750", 
            "name": "3-ketothiolase deficiency"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:14723", 
        "description": "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:14723", 
        "name": "beta-ketothiolase deficiency"
    }
}