{
    "disease_id": "DOID:14723", 
    "synonyms": [
        {
            "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": "alpha-methylacetoaceticaciduria"
        }, 
        {
            "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": "T2 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-oxothiolase 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": "3-ketothiolase 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": "2-Methyl-3-hydroxybutyric acidemia"
        }, 
        {
            "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": "Mat deficiency"
        }, 
        {
            "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": "BKT"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008760", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008760", 
            "name": "ALPHA-methylacetoacetic aciduria"
        }, 
        {
            "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": "3-ketothiolase deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:14723", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:14723", 
            "name": "3-oxothiolase deficiency"
        }, 
        {
            "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": "alpha-methylacetoaceticaciduria"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:14723", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:14723", 
            "name": "peroxisomal thiolase 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"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/14723#disease-associations", 
            "id": "14723", 
            "database": "Alliance of Genome Resources"
        }
    ]
}