{
    "disease_id": "DOID:0111351",
    "recommended_name": {
        "id": "DOID:0111351",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111351",
        "name": "D-2-hydroxyglutaric aciduria 1",
        "description": "A D-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in D2HGDH on 2q37.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111351",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111351",
            "name": "D2HGA1",
            "description": ""
        },
        {
            "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_list": [
        "DOID:0111351"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111351",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111351",
            "categories": []
        },
        {
            "id": "MONDO:0024554",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024554",
            "categories": []
        },
        {
            "id": "MIM:600721",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600721",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A1L258-1",
            "uniprot_ac": "A1L258",
            "uniprot_id": "D2HDH_DANRE",
            "refseq_ac": "NP_001074066",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "D-2-hydroxyglutarate dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.99.39",
                    "type": "synonym"
                },
                {
                    "name": "D-2-hydroxyglutarate dehydrogenase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "D-2-hydroxyglutarate dehydrogenase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "d2hgdh",
                    "type": "recommended"
                },
                {
                    "name": "d2hgdh",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158661",
                    "type": "synonym"
                }
            ],
            "record_id": "A1L258-1",
            "evidence": [
                {
                    "id": "0111351",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111351"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CIM3-1",
            "uniprot_ac": "Q8CIM3",
            "uniprot_id": "D2HDH_MOUSE",
            "refseq_ac": "NP_849213",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "D-2-hydroxyglutarate dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.99.39",
                    "type": "synonym"
                },
                {
                    "name": "D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "D-2-hydroxyglutarate dehydrogenase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "D2hgdh",
                    "type": "recommended"
                },
                {
                    "name": "D2hgdh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CIM3-1",
            "evidence": [
                {
                    "id": "0111351",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111351"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N465-1",
            "uniprot_ac": "Q8N465",
            "uniprot_id": "D2HDH_HUMAN",
            "refseq_ac": "NP_689996",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "D-2-hydroxyglutarate dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.99.39",
                    "type": "synonym"
                },
                {
                    "name": "D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "D-2-hydroxyglutarate dehydrogenase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "D2HGDH",
                    "type": "recommended"
                },
                {
                    "name": "D2HGDH",
                    "type": "synonym"
                },
                {
                    "name": "D2HGD",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N465-1",
            "evidence": [
                {
                    "id": "600721",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600721"
                },
                {
                    "id": "0111351",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111351"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46681-1",
            "uniprot_ac": "P46681",
            "uniprot_id": "DLD2_YEAST",
            "refseq_ac": "NP_010103",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "D-2-hydroxyglutarate--pyruvate transhydrogenase DLD2",
                    "type": "recommended"
                },
                {
                    "name": "1.1.2.4",
                    "type": "synonym"
                },
                {
                    "name": "1.1.99.40",
                    "type": "synonym"
                },
                {
                    "name": "Actin-interacting protein 2",
                    "type": "synonym"
                },
                {
                    "name": "D-2HG--pyruvate transhydrogenase DLD2",
                    "type": "synonym"
                },
                {
                    "name": "D-LCR",
                    "type": "synonym"
                },
                {
                    "name": "D-lactate dehydrogenase [cytochrome] 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "D-lactate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "D-lactate ferricytochrome C oxidoreductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DLD2",
                    "type": "recommended"
                },
                {
                    "name": "AIP2",
                    "type": "synonym"
                },
                {
                    "name": "DLD2",
                    "type": "synonym"
                }
            ],
            "record_id": "P46681-1",
            "evidence": [
                {
                    "id": "0111351",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111351"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39976-1",
            "uniprot_ac": "P39976",
            "uniprot_id": "DLD3_YEAST",
            "refseq_ac": "NP_010843",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "D-2-hydroxyglutarate--pyruvate transhydrogenase DLD3",
                    "type": "recommended"
                },
                {
                    "name": "(R)-2-hydroxyglutarate--pyruvate transhydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "1.1.2.4",
                    "type": "synonym"
                },
                {
                    "name": "1.1.99.40",
                    "type": "synonym"
                },
                {
                    "name": "D-2HG--pyruvate transhydrogenase DLD3",
                    "type": "synonym"
                },
                {
                    "name": "D-LCR",
                    "type": "synonym"
                },
                {
                    "name": "D-lactate dehydrogenase [cytochrome] 3",
                    "type": "synonym"
                },
                {
                    "name": "D-lactate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "D-lactate ferricytochrome C oxidoreductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DLD3",
                    "type": "recommended"
                },
                {
                    "name": "DLD3",
                    "type": "synonym"
                }
            ],
            "record_id": "P39976-1",
            "evidence": [
                {
                    "id": "0111351",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111351"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P84850-1",
            "uniprot_ac": "P84850",
            "uniprot_id": "D2HDH_RAT",
            "refseq_ac": "NP_001100396",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "D-2-hydroxyglutarate dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.99.39",
                    "type": "synonym"
                },
                {
                    "name": "D-2-hydroxyglutarate dehydrogenase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "D2hgdh",
                    "type": "recommended"
                },
                {
                    "name": "D2hgdh",
                    "type": "synonym"
                },
                {
                    "name": "RGD1307976",
                    "type": "synonym"
                }
            ],
            "record_id": "P84850-1",
            "evidence": [
                {
                    "id": "0111351",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111351"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111351"
}