{
    "disease_id": "DOID:14723",
    "recommended_name": {
        "id": "DOID:14723",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:14723",
        "name": "beta-ketothiolase deficiency",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:14723",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14723",
            "name": "2-methyl-3-hydroxybutyricacidemia",
            "description": ""
        },
        {
            "id": "DOID:14723",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14723",
            "name": "3-ketothiolase deficiency",
            "description": ""
        },
        {
            "id": "DOID:14723",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14723",
            "name": "3-oxothiolase deficiency",
            "description": ""
        },
        {
            "id": "DOID:14723",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14723",
            "name": "Mitochondrial acetoacetyl-CoA Thiolase deficiency",
            "description": ""
        },
        {
            "id": "DOID:14723",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14723",
            "name": "alpha-methylacetoaceticaciduria",
            "description": ""
        },
        {
            "id": "DOID:14723",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14723",
            "name": "peroxisomal thiolase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008760",
            "name": "beta-ketothiolase deficiency",
            "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."
        },
        {
            "id": "MONDO:0008760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008760",
            "name": "2-methyl-3-hydroxybutyricacidemia",
            "description": ""
        },
        {
            "id": "MONDO:0008760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008760",
            "name": "alpha-methylacetoaceticaciduria",
            "description": ""
        },
        {
            "id": "MONDO:0008760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008760",
            "name": "mitochondrial acetoacetyl-CoA thiolase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008760",
            "name": "Alpha methylacetoacetic aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0008760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008760",
            "name": "T2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008760",
            "name": "Beta ketothiolase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008760",
            "name": "3-oxothiolase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008760",
            "name": "mitochondrial acetoacetyl-coenzyme A thiolase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008760",
            "name": "3-ketothiolase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008760",
            "name": "Alpha-methyl-acetoacetyl-CoA thiolase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008760",
            "name": "2-Methyl-3-hydroxybutyric acidemia",
            "description": ""
        },
        {
            "id": "MONDO:0008760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008760",
            "name": "mitochondrial acetoacetyl-Coa thiolase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008760",
            "name": "beta-ketothiolase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008760",
            "name": "peroxisomal thiolase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008760",
            "name": "Mat deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008760",
            "name": "3-Ktd deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008760",
            "name": "BKT",
            "description": ""
        },
        {
            "id": "MONDO:0008760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008760",
            "name": "ALPHA-methylacetoacetic aciduria",
            "description": ""
        },
        {
            "id": "MIM:203750",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/203750",
            "name": "3-ketothiolase deficiency",
            "description": "3-ketothiolase deficiency"
        }
    ]
}