{
    "disease_id": "DOID:0090126",
    "recommended_name": {
        "id": "DOID:0090126",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0090126",
        "name": "branched-chain keto acid dehydrogenase kinase deficiency",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0090126",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090126",
            "name": "BCKDK deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090126",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090126",
            "name": "BCKDKD",
            "description": ""
        },
        {
            "id": "DOID:0090126",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090126",
            "name": "autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013970",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013970",
            "name": "branched-chain keto acid dehydrogenase kinase deficiency",
            "description": "Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency is a rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids."
        },
        {
            "id": "MONDO:0013970",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013970",
            "name": "branched-chain keto acid dehydrogenase kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013970",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013970",
            "name": "autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013970",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013970",
            "name": "branched-chain KETO acid dehydrogenase KINASE deficiency; BCKDKD",
            "description": ""
        },
        {
            "id": "MONDO:0013970",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013970",
            "name": "BCKDK deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013970",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013970",
            "name": "Bckdk deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013970",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013970",
            "name": "BCKDKD",
            "description": ""
        },
        {
            "id": "MIM:614923",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614923",
            "name": "Branched-chain ketoacid dehydrogenase kinase deficiency",
            "description": "Branched-chain ketoacid dehydrogenase kinase deficiency"
        }
    ]
}