{
    "disease_id": "DOID:0081326",
    "recommended_name": {
        "id": "DOID:0081326",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081326",
        "name": "oxoglutarate dehydrogenase deficiency",
        "description": "An amino acid metabolic disorder that is characterized by infantile and pediatric onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures and that has_material_basis_in homozygous mutation in the oxoglutarate dehydrogenase gene (OGDH) on chromosome 7p13."
    },
    "synonyms": [
        {
            "id": "DOID:0081326",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081326",
            "name": "Oxoglutaric aciduria",
            "description": ""
        },
        {
            "id": "DOID:0081326",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081326",
            "name": "alpha-ketoglutarate dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008759",
            "name": "oxoglutaricaciduria",
            "description": "A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio. Pyruvate dehydrogenase deficiency can be associated, leading to hypoglycemia and neurologic anomalies, including seizures."
        },
        {
            "id": "MONDO:0008759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008759",
            "name": "Alpha-ketoglutarate dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008759",
            "name": "oxoglutarate dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008759",
            "name": "2 alpha ketoglutarate dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008759",
            "name": "Alpha KGD deficiency",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081326"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081326",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081326",
            "categories": []
        },
        {
            "id": "MONDO:0008759",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008759",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B8JI08-1",
            "uniprot_ac": "B8JI08",
            "uniprot_id": "B8JI08_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "2-oxoglutarate dehydrogenase complex component E1",
                    "type": "recommended"
                },
                {
                    "name": "1.2.4.2",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoglutarate dehydrogenase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-ketoglutarate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Thiamine diphosphate (ThDP)-dependent 2-oxoglutarate dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ogdha",
                    "type": "recommended"
                },
                {
                    "name": "im:7045267",
                    "type": "synonym"
                },
                {
                    "name": "ogdh",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa06d01",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb98a04",
                    "type": "synonym"
                },
                {
                    "name": "zgc:73296",
                    "type": "synonym"
                }
            ],
            "record_id": "B8JI08-1",
            "evidence": [
                {
                    "id": "0081326",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081326"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7EZ05-1",
            "uniprot_ac": "E7EZ05",
            "uniprot_id": "E7EZ05_DANRE",
            "refseq_ac": "XP_073771327",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "2-oxoglutarate dehydrogenase complex component E1",
                    "type": "recommended"
                },
                {
                    "name": "1.2.4.2",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoglutarate dehydrogenase complex component E1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoglutarate dehydrogenase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-ketoglutarate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Thiamine diphosphate (ThDP)-dependent 2-oxoglutarate dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ogdhb",
                    "type": "recommended"
                },
                {
                    "name": "ogdhb",
                    "type": "synonym"
                }
            ],
            "record_id": "E7EZ05-1",
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                {
                    "id": "0081326",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081326"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q60597-1",
            "uniprot_ac": "Q60597",
            "uniprot_id": "ODO1_MOUSE",
            "refseq_ac": "NP_001239211",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "2-oxoglutarate dehydrogenase complex component E1",
                    "type": "recommended"
                },
                {
                    "name": "1.2.4.2",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoglutarate dehydrogenase complex component E1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoglutarate dehydrogenase complex component E1",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoglutarate dehydrogenase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-KGDH-E1",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-ketoglutarate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "E1o",
                    "type": "synonym"
                },
                {
                    "name": "OGDC-E1",
                    "type": "synonym"
                },
                {
                    "name": "OGDH-E1",
                    "type": "synonym"
                },
                {
                    "name": "Thiamine diphosphate (ThDP)-dependent 2-oxoglutarate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-KGDH-E1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-ketoglutarate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "oxoglutarate dehydrogenase (lipoamide)",
                    "type": "synonym"
                },
                {
                    "name": "thiamine diphosphate (ThDP)-dependent 2-oxoglutarate dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ogdh",
                    "type": "recommended"
                },
                {
                    "name": "2210403E04Rik",
                    "type": "synonym"
                },
                {
                    "name": "2210412K19Rik",
                    "type": "synonym"
                },
                {
                    "name": "E1o",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa4192",
                    "type": "synonym"
                },
                {
                    "name": "OGDH-E1",
                    "type": "synonym"
                },
                {
                    "name": "Ogdh",
                    "type": "synonym"
                },
                {
                    "name": "d1401",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA4192",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60597-1",
            "evidence": [
                {
                    "id": "0081326",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081326"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20967-1",
            "uniprot_ac": "P20967",
            "uniprot_id": "ODO1_YEAST",
            "refseq_ac": "NP_012141",
            "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": "2-oxoglutarate dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.2.4.2",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoglutarate dehydrogenase complex component E1",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-ketoglutarate dehydrogenase complex subunit E1",
                    "type": "synonym"
                },
                {
                    "name": "OGDC-E1",
                    "type": "synonym"
                },
                {
                    "name": "OGDHC subunit E1",
                    "type": "synonym"
                },
                {
                    "name": "OGDH",
                    "type": "synonym"
                },
                {
                    "name": "alpha-KGDHC subunit E1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-ketoglutarate dehydrogenase KGD1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KGD1",
                    "type": "recommended"
                },
                {
                    "name": "KGD1",
                    "type": "synonym"
                },
                {
                    "name": "OGD1",
                    "type": "synonym"
                }
            ],
            "record_id": "P20967-1",
            "evidence": [
                {
                    "id": "0081326",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081326"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XI78-1",
            "uniprot_ac": "Q5XI78",
            "uniprot_id": "ODO1_RAT",
            "refseq_ac": "NP_001017461",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "2-oxoglutarate dehydrogenase complex component E1",
                    "type": "recommended"
                },
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                    "name": "1.2.4.2",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoglutarate dehydrogenase E1 component, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoglutarate dehydrogenase complex component E1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoglutarate dehydrogenase complex component E1",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoglutarate dehydrogenase, mitochondrial-like",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoglutarate dehydrogenase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-KGDH-E1",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-ketoglutarate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "E1o",
                    "type": "synonym"
                },
                {
                    "name": "OGDC-E1",
                    "type": "synonym"
                },
                {
                    "name": "OGDH-E1",
                    "type": "synonym"
                },
                {
                    "name": "Thiamine diphosphate (ThDP)-dependent 2-oxoglutarate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-KGDH-E1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-ketoglutarate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)",
                    "type": "synonym"
                },
                {
                    "name": "oxoglutarate dehydrogenase (lipoamide)",
                    "type": "synonym"
                },
                {
                    "name": "thiamine diphosphate (ThDP)-dependent 2-oxoglutarate dehydrogenase",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Ogdh",
                    "type": "recommended"
                },
                {
                    "name": "E1o",
                    "type": "synonym"
                },
                {
                    "name": "OGDH-E1",
                    "type": "synonym"
                },
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                    "name": "Ogdhl",
                    "type": "synonym"
                },
                {
                    "name": "Ogdh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XI78-1",
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                    "id": "0081326",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081326"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZQD3-1",
            "uniprot_ac": "D3ZQD3",
            "uniprot_id": "OGDHL_RAT",
            "refseq_ac": "NP_001382038",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
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                    "name": "2-oxoglutarate dehydrogenase-like, mitochondrial",
                    "type": "recommended"
                },
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                    "name": "1.2.4.2",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoglutarate dehydrogenase complex component E1-like",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoglutarate dehydrogenase-like, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-ketoglutarate dehydrogenase-like",
                    "type": "synonym"
                },
                {
                    "name": "OGDC-E1-like",
                    "type": "synonym"
                },
                {
                    "name": "alpha-ketoglutarate dehydrogenase-like",
                    "type": "synonym"
                },
                {
                    "name": "oxoglutarate dehydrogenase-like",
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                }
            ],
            "gene_names": [
                {
                    "name": "Ogdhl",
                    "type": "recommended"
                },
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                    "name": "Ogdhl",
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                }
            ],
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                {
                    "id": "0081326",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081326"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8JNU6-1",
            "uniprot_ac": "A8JNU6",
            "uniprot_id": "A8JNU6_DROME",
            "refseq_ac": "NP_001097629",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "2-oxoglutarate dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.2.4.2",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoglutarate dehydrogenase complex component E1",
                    "type": "synonym"
                },
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                    "name": "Alpha-ketoglutarate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "CG11661-PI",
                    "type": "synonym"
                },
                {
                    "name": "Ogdh-PI",
                    "type": "synonym"
                },
                {
                    "name": "alpha-ketoglutarate dehydrogenase E1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "at 73EF",
                    "type": "synonym"
                },
                {
                    "name": "neural conserved at 73EF",
                    "type": "synonym"
                },
                {
                    "name": "neural conserved at 73KF",
                    "type": "synonym"
                },
                {
                    "name": "neural conserved",
                    "type": "synonym"
                },
                {
                    "name": "oxoglutarate dehydrogenase, isoform I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ogdh1",
                    "type": "recommended"
                },
                {
                    "name": "141810_at",
                    "type": "synonym"
                },
                {
                    "name": "CG11661",
                    "type": "synonym"
                },
                {
                    "name": "DOGDH",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11661",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11661",
                    "type": "synonym"
                },
                {
                    "name": "E1",
                    "type": "synonym"
                },
                {
                    "name": "Nc73EF",
                    "type": "synonym"
                },
                {
                    "name": "Nc73eF",
                    "type": "synonym"
                },
                {
                    "name": "OGDH",
                    "type": "synonym"
                },
                {
                    "name": "Ogdh",
                    "type": "synonym"
                },
                {
                    "name": "alpha-KGDH-E1",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.329",
                    "type": "synonym"
                },
                {
                    "name": "dOgdh",
                    "type": "synonym"
                }
            ],
            "record_id": "A8JNU6-1",
            "evidence": [
                {
                    "id": "0081326",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081326"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ULD0-1",
            "uniprot_ac": "Q9ULD0",
            "uniprot_id": "OGDHL_HUMAN",
            "refseq_ac": "NP_001137468",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "2-oxoglutarate dehydrogenase-like, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.2.4.2",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoglutarate dehydrogenase complex component E1-like",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoglutarate dehydrogenase-like, mitochondrial isoform b",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoglutarate dehydrogenase-like, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-ketoglutarate dehydrogenase-like",
                    "type": "synonym"
                },
                {
                    "name": "OGDC-E1-like",
                    "type": "synonym"
                },
                {
                    "name": "alpha-ketoglutarate dehydrogenase-like",
                    "type": "synonym"
                },
                {
                    "name": "oxoglutarate dehydrogenase like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OGDHL",
                    "type": "recommended"
                },
                {
                    "name": "KIAA1290",
                    "type": "synonym"
                },
                {
                    "name": "OGDHL",
                    "type": "synonym"
                },
                {
                    "name": "YOBELN",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ULD0-1",
            "evidence": [
                {
                    "id": "0081326",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081326"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02218-1",
            "uniprot_ac": "Q02218",
            "uniprot_id": "ODO1_HUMAN",
            "refseq_ac": "NP_001003941",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "2-oxoglutarate dehydrogenase complex component E1",
                    "type": "recommended"
                },
                {
                    "name": "1.2.4.2",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoglutarate dehydrogenase complex component E1 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoglutarate dehydrogenase complex component E1",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoglutarate dehydrogenase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-KGDH-E1",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-ketoglutarate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "E1o",
                    "type": "synonym"
                },
                {
                    "name": "HsOGDH",
                    "type": "synonym"
                },
                {
                    "name": "OGDC-E1",
                    "type": "synonym"
                },
                {
                    "name": "OGDH-E1",
                    "type": "synonym"
                },
                {
                    "name": "Thiamine diphosphate (ThDP)-dependent 2-oxoglutarate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-KGDH-E1",
                    "type": "synonym"
                },
                {
                    "name": "oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)",
                    "type": "synonym"
                },
                {
                    "name": "oxoglutarate decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "oxoglutarate dehydrogenase (succinyl-transferring)",
                    "type": "synonym"
                },
                {
                    "name": "testicular tissue protein Li 131",
                    "type": "synonym"
                },
                {
                    "name": "thiamine diphosphate (ThDP)-dependent 2-oxoglutarate dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OGDH",
                    "type": "recommended"
                },
                {
                    "name": "AKGDH",
                    "type": "synonym"
                },
                {
                    "name": "E1k",
                    "type": "synonym"
                },
                {
                    "name": "E1o",
                    "type": "synonym"
                },
                {
                    "name": "HsOGDH",
                    "type": "synonym"
                },
                {
                    "name": "KGD1",
                    "type": "synonym"
                },
                {
                    "name": "OGDC",
                    "type": "synonym"
                },
                {
                    "name": "OGDH-E1",
                    "type": "synonym"
                },
                {
                    "name": "OGDH2",
                    "type": "synonym"
                },
                {
                    "name": "OGDHD",
                    "type": "synonym"
                },
                {
                    "name": "OGDH",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02218-1",
            "evidence": [
                {
                    "id": "0081326",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081326"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081326"
}