{
    "disease_id": "DOID:0090126", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013970", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013970", 
            "name": "autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013970", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013970", 
            "name": "branched-chain KETO acid dehydrogenase KINASE deficiency; BCKDKD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013970", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013970", 
            "name": "BCKDK deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013970", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013970", 
            "name": "BCKDKD"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090126", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090126", 
            "name": "BCKDK deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090126", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090126", 
            "name": "BCKDKD"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090126", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090126", 
            "name": "autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency"
        }, 
        {
            "url": "https://www.omim.org/entry/614923", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:614923", 
            "name": "Branched-chain ketoacid dehydrogenase kinase deficiency"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0090126", 
        "description": "An amino acid metabolic disorder that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0090126", 
        "name": "branched-chain keto acid dehydrogenase kinase deficiency"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/614923", 
            "id": "614923", 
            "database": "MIM"
        }
    ]
}