{
    "disease_id": "DOID:0070541",
    "recommended_name": {
        "id": "DOID:0070541",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070541",
        "name": "3-hydroxy-3-methylglutaryl-CoA lyase deficiency",
        "description": "An amino acid metabolic disorder characterized by metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCL gene on chromosome 1p36.11."
    },
    "synonyms": [
        {
            "id": "DOID:0070541",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070541",
            "name": "3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0070541",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070541",
            "name": "HMG-CoA lyase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0070541",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070541",
            "name": "HMGCL deficiency",
            "description": ""
        },
        {
            "id": "DOID:0070541",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070541",
            "name": "HMGCLD",
            "description": ""
        },
        {
            "id": "DOID:0070541",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070541",
            "name": "hydroxymethylglutaric aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0009520",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009520",
            "name": "3-hydroxy-3-methylglutaric aciduria",
            "description": "3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae."
        },
        {
            "id": "MONDO:0009520",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009520",
            "name": "3-OH 3-Methyl glutaric aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0009520",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009520",
            "name": "3-hydroxy-3-methylglutaric aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0009520",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009520",
            "name": "3-hydroxy-3-methylglutaryl-CoA lyase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009520",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009520",
            "name": "HMG-CoA lyase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009520",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009520",
            "name": "Hydroxymethylglutaric aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0009520",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009520",
            "name": "deficiency of hydroxymethylglutaryl-CoA lyase",
            "description": ""
        },
        {
            "id": "MONDO:0009520",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009520",
            "name": "hydroxymethylglutaryl-CoA lyase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009520",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009520",
            "name": "HMG CoA lyase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009520",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009520",
            "name": "HMGCLD",
            "description": ""
        },
        {
            "id": "MONDO:0009520",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009520",
            "name": "defect in leucine metabolism",
            "description": ""
        },
        {
            "id": "MIM:246450",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/246450",
            "name": "3-hydroxy-3-methylglutaryl-CoA lyase deficiency",
            "description": "3-hydroxy-3-methylglutaryl-CoA lyase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070541"
    ],
    "unlinked_id_list": []
}