{
    "disease_id": "DOID:0060950",
    "recommended_name": {
        "id": "DOID:0060950",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060950",
        "name": "hypervalinemia and hyperleucine-isoleucinemia",
        "description": "An amino acid metabolic characterized by highly elevated plasma valine and leucine concentrations that has_material_basis_in compound heterozygous mutation in the BCAT2 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0060950",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060950",
            "name": "branched-chain aminotransferase 2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0100058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100058",
            "name": "hypervalinemia and hyperleucine-isoleucinemia",
            "description": "Elevated levels of plasma valine and leucine/isoleucine levels, associated with symptoms of headache and mild memory loss and attributed to biallelic variants in the BCAT2 gene. BCAT2 encodes branched-chain aminotransferase 2 which catalyzes the transamination of the branched chain amino acids to their respective -keto acids."
        },
        {
            "id": "MONDO:0100058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100058",
            "name": "HVLI",
            "description": ""
        },
        {
            "id": "MONDO:0100058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100058",
            "name": "branched-chain aminotransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0100058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100058",
            "name": "hypervalinemia and hyperleucine-isoleucinemia",
            "description": ""
        },
        {
            "id": "MONDO:0100058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100058",
            "name": "hypervalinemia or hyperleucine-isoleucinemia",
            "description": ""
        },
        {
            "id": "MIM:618850",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618850",
            "name": "Hypervalinemia and hyperleucine-isoleucinemia",
            "description": "Hypervalinemia and hyperleucine-isoleucinemia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060950"
    ],
    "unlinked_id_list": []
}