{
    "disease_id": "DOID:0050574",
    "recommended_name": {
        "id": "DOID:0050574",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050574",
        "name": "L-2-hydroxyglutaric aciduria",
        "description": "An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia)."
    },
    "synonyms": [
        {
            "id": "DOID:0050574",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050574",
            "name": "L-2-HYDROXYGLUTARIC ACIDEMIA",
            "description": ""
        },
        {
            "id": "MONDO:0009370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009370",
            "name": "L-2-hydroxyglutaric aciduria",
            "description": "L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy."
        },
        {
            "id": "MONDO:0009370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009370",
            "name": "L-2-HGA",
            "description": ""
        },
        {
            "id": "MONDO:0009370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009370",
            "name": "L-2-hydroxyglutaric acidemia",
            "description": ""
        },
        {
            "id": "MONDO:0009370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009370",
            "name": "L-2-hydroxyglutaric aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0009370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009370",
            "name": "L2HGA",
            "description": ""
        },
        {
            "id": "MIM:236792",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/236792",
            "name": "L-2-hydroxyglutaric aciduria",
            "description": "L-2-hydroxyglutaric aciduria"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050574"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050574",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050574",
            "categories": []
        },
        {
            "id": "MONDO:0009370",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009370",
            "categories": []
        },
        {
            "id": "MIM:236792",
            "database": "MIM",
            "url": "https://www.omim.org/entry/236792",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B8A6D3-1",
            "uniprot_ac": "B8A6D3",
            "uniprot_id": "B8A6D3_DANRE",
            "refseq_ac": "NP_001139067",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "L-2-hydroxyglutarate dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.99.2",
                    "type": "synonym"
                },
                {
                    "name": "L-2-hydroxyglutarate dehydrogenase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "l2hgdh",
                    "type": "recommended"
                },
                {
                    "name": "l2hgdh",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-67f24.10",
                    "type": "synonym"
                }
            ],
            "record_id": "B8A6D3-1",
            "evidence": [
                {
                    "id": "0050574",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050574"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91YP0-1",
            "uniprot_ac": "Q91YP0",
            "uniprot_id": "L2HDH_MOUSE",
            "refseq_ac": "NP_663418",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "L-2-hydroxyglutarate dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.99.2",
                    "type": "synonym"
                },
                {
                    "name": "Duranin",
                    "type": "synonym"
                },
                {
                    "name": "L-2-hydroxyglutarate dehydrogenase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "L-2-hydroxyglutarate dehydrogenase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "duranin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "L2hgdh",
                    "type": "recommended"
                },
                {
                    "name": "L2hgdh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91YP0-1",
            "evidence": [
                {
                    "id": "0050574",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050574"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H9P8-1",
            "uniprot_ac": "Q9H9P8",
            "uniprot_id": "L2HDH_HUMAN",
            "refseq_ac": "NP_079160",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "L-2-hydroxyglutarate dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.99.2",
                    "type": "synonym"
                },
                {
                    "name": "2-hydroxyglutarate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Duranin",
                    "type": "synonym"
                },
                {
                    "name": "L-2-hydroxyglutarate dehydrogenase, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "L-2-hydroxyglutarate dehydrogenase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "L-alpha-hydroxyglutarate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-hydroxyglutarate oxidoreductase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-ketoglutarate reductase",
                    "type": "synonym"
                },
                {
                    "name": "duranin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "L2HGDH",
                    "type": "recommended"
                },
                {
                    "name": "C14orf160",
                    "type": "synonym"
                },
                {
                    "name": "L2HGA",
                    "type": "synonym"
                },
                {
                    "name": "L2HGDH",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H9P8-1",
            "evidence": [
                {
                    "id": "236792",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/236792"
                },
                {
                    "id": "0050574",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050574"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZVS2-1",
            "uniprot_ac": "D3ZVS2",
            "uniprot_id": "D3ZVS2_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "L-2-hydroxyglutarate dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.99.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "L2hgdh",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZVS2-1",
            "evidence": [
                {
                    "id": "0050574",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050574"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VJ28-1",
            "uniprot_ac": "Q9VJ28",
            "uniprot_id": "Q9VJ28_DROME",
            "refseq_ac": "NP_001286076",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "L-2-hydroxyglutarate dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.99.2",
                    "type": "synonym"
                },
                {
                    "name": "CG10639-PB",
                    "type": "synonym"
                },
                {
                    "name": "L-2-hydroxyglutarate dehydrogenase, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "L2HGDH-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "L2HGDH",
                    "type": "recommended"
                },
                {
                    "name": "CG10639",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10639",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10639",
                    "type": "synonym"
                },
                {
                    "name": "L-2-HGDH",
                    "type": "synonym"
                },
                {
                    "name": "L2HGDH",
                    "type": "synonym"
                },
                {
                    "name": "dL2HGDH",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VJ28-1",
            "evidence": [
                {
                    "id": "0050574",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050574"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050574"
}