{
    "disease_id": "DOID:0050575", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0024554", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0024554", 
            "name": "D-2-hydroxyglutaric aciduria 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0024554", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0024554", 
            "name": "D2HGDH D-2-hydroxyglutaric aciduria"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0024554", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0024554", 
            "name": "D-2-hydroxyglutaric aciduria 1; D2HGA1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0024554", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0024554", 
            "name": "D2HGA1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0024554", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0024554", 
            "name": "D-2-hydroxyglutaric aciduria caused by mutation in D2HGDH"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0050575", 
        "description": "An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0050575", 
        "name": "D-2-hydroxyglutaric aciduria"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0050575#disease-associations", 
            "id": "0050575", 
            "database": "Alliance of Genome Resources"
        }
    ]
}