{
    "disease_id": "DOID:0111619",
    "recommended_name": {
        "id": "DOID:0111619",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111619",
        "name": "combined D-2- and L-2-hydroxyglutaric aciduria",
        "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 the SLC25A1 gene on chromosome 22q11.21."
    },
    "synonyms": [
        {
            "id": "DOID:0111619",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111619",
            "name": "D,L-2-HGA",
            "description": ""
        },
        {
            "id": "DOID:0111619",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111619",
            "name": "D,L-2-hydroxyglutaric acidemia",
            "description": ""
        },
        {
            "id": "DOID:0111619",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111619",
            "name": "D,L-2-hydroxyglutaric aciduria",
            "description": ""
        },
        {
            "id": "DOID:0111619",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111619",
            "name": "combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria",
            "description": ""
        },
        {
            "id": "DOID:0111619",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111619",
            "name": "combined D,L-2-hydroxyglutaric aciduria",
            "description": ""
        },
        {
            "id": "DOID:0111619",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111619",
            "name": "combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia",
            "description": ""
        },
        {
            "id": "MONDO:0014072",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014072",
            "name": "D,L-2-hydroxyglutaric aciduria",
            "description": "D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites."
        },
        {
            "id": "MONDO:0014072",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014072",
            "name": "D,L-2-HGA",
            "description": ""
        },
        {
            "id": "MONDO:0014072",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014072",
            "name": "D,L-2-hydroxyglutaric acidemia",
            "description": ""
        },
        {
            "id": "MONDO:0014072",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014072",
            "name": "D,L-2-hydroxyglutaric aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0014072",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014072",
            "name": "combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia",
            "description": ""
        },
        {
            "id": "MONDO:0014072",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014072",
            "name": "combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0014072",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014072",
            "name": "D2L2AD",
            "description": ""
        },
        {
            "id": "MONDO:0014072",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014072",
            "name": "combined D-2- and L-2-hydroxyglutaric aciduria",
            "description": ""
        },
        {
            "id": "MIM:615182",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615182",
            "name": "Combined D-2- and L-2-hydroxyglutaric aciduria",
            "description": "Combined D-2- and L-2-hydroxyglutaric aciduria"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111619"
    ],
    "unlinked_id_list": []
}