{
    "disease_id": "DOID:0050575",
    "recommended_name": {
        "id": "DOID:0050575",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050575",
        "name": "D-2-hydroxyglutaric aciduria",
        "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0024554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024554",
            "name": "D-2-hydroxyglutaric aciduria 1",
            "description": "Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the D2HGDH gene."
        },
        {
            "id": "MONDO:0024554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024554",
            "name": "D-2-hydroxyglutaric aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0024554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024554",
            "name": "D-2-hydroxyglutaric aciduria 1",
            "description": ""
        },
        {
            "id": "MONDO:0024554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024554",
            "name": "D-2-hydroxyglutaric aciduria caused by mutation in D2HGDH",
            "description": ""
        },
        {
            "id": "MONDO:0024554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024554",
            "name": "D2HGDH D-2-hydroxyglutaric aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0024554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024554",
            "name": "D2HGA1",
            "description": ""
        },
        {
            "id": "MIM:600721",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600721",
            "name": "D-2-hydroxyglutaric aciduria 1",
            "description": "D-2-hydroxyglutaric aciduria 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0111351",
            "label": "D-2-hydroxyglutaric aciduria 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111352",
            "label": "D-2-hydroxyglutaric aciduria 2",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0111352",
        "DOID:0050575",
        "DOID:0111351"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050575",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050575",
            "categories": []
        },
        {
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            "url": "https://monarchinitiative.org/disease/MONDO:0024554",
            "categories": []
        },
        {
            "id": "MIM:600721",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600721",
            "categories": []
        }
    ],
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            "uniprot_ac": "O88844",
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                },
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                    "name": "E030024J03Rik",
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                    "name": "Idh1",
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                    "id": "0050575",
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                    "name": "D-2-hydroxyglutarate dehydrogenase, mitochondrial",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                }
            ],
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                    "name": "Isocitrate dehydrogenase [NADP], mitochondrial",
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                    "name": "Oxalosuccinate decarboxylase",
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                    "id": "0050575",
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                    "id": "0050575",
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                    "name": "Drosophila melanogaster",
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                    "id": "0050575",
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            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050575"
}
