{
    "disease_id": "DOID:0111619", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014072", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014072", 
            "name": "D,L-2-hydroxyglutaric aciduria"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014072", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014072", 
            "name": "combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014072", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014072", 
            "name": "combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014072", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014072", 
            "name": "D,L-2-hydroxyglutaric acidemia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014072", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014072", 
            "name": "combined D-2- and L-2-hydroxyglutaric aciduria; D2L2AD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014072", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014072", 
            "name": "D,L-2-HGA"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014072", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014072", 
            "name": "D2L2AD"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111619", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111619", 
            "name": "D,L-2-HGA"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111619", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111619", 
            "name": "D,L-2-hydroxyglutaric acidemia"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111619", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111619", 
            "name": "D,L-2-hydroxyglutaric aciduria"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111619", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111619", 
            "name": "combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111619", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111619", 
            "name": "combined D,L-2-hydroxyglutaric aciduria"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111619", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111619", 
            "name": "combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111619", 
        "description": "A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in SLC25A1 on chromosome 22q11.21.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111619", 
        "name": "combined D-2- and L-2-hydroxyglutaric aciduria"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111619#disease-associations", 
            "id": "0111619", 
            "database": "Alliance of Genome Resources"
        }
    ]
}