{
    "disease_id": "DOID:0060949",
    "recommended_name": {
        "id": "DOID:0060949",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060949",
        "name": "3-hydroxyisobutryl-CoA hydrolase deficiency",
        "description": "An amino acid metabolic disorder characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32."
    },
    "synonyms": [
        {
            "id": "DOID:0060949",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060949",
            "name": "HIBCH deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060949",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060949",
            "name": "Methacrylic aciduria",
            "description": ""
        },
        {
            "id": "DOID:0060949",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060949",
            "name": "Valine metabolic defect",
            "description": ""
        },
        {
            "id": "MONDO:0009603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009603",
            "name": "3-hydroxyisobutyryl-CoA hydrolase deficiency",
            "description": "Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterized by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established."
        },
        {
            "id": "MONDO:0009603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009603",
            "name": "3-hydroxyisobutryl-CoA hydrolase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009603",
            "name": "3-hydroxyisobutyryl-CoA hydrolase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009603",
            "name": "HIBCH deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009603",
            "name": "methacrylic aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0009603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009603",
            "name": "neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009603",
            "name": "Beta-hydroxyisobutyryl-CoA deacylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009603",
            "name": "HIBCHD",
            "description": ""
        },
        {
            "id": "MONDO:0009603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009603",
            "name": "beta-hydroxyisobutyryl Coa deacylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009603",
            "name": "methacrylic acid toxicity",
            "description": ""
        },
        {
            "id": "MONDO:0009603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009603",
            "name": "valine metabolic defect",
            "description": ""
        },
        {
            "id": "MIM:250620",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/250620",
            "name": "3-hydroxyisobutryl-CoA hydrolase deficiency",
            "description": "3-hydroxyisobutryl-CoA hydrolase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060949"
    ],
    "unlinked_id_list": []
}