{
    "disease_id": "DOID:0111352",
    "recommended_name": {
        "id": "DOID:0111352",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111352",
        "name": "D-2-hydroxyglutaric aciduria 2",
        "description": "A D-2-hydroxyglutaric aciduria that has_material_basis_in heterozygous mutation in IDH2 on 15q26.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111352",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111352",
            "name": "D2HGA2",
            "description": ""
        },
        {
            "id": "MONDO:0013345",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013345",
            "name": "d-2-hydroxyglutaric aciduria 2",
            "description": "Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene."
        },
        {
            "id": "MONDO:0013345",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013345",
            "name": "D-2-hydroxyglutaric aciduria caused by mutation in IDH2",
            "description": ""
        },
        {
            "id": "MONDO:0013345",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013345",
            "name": "D-2-hydroxyglutaric aciduria type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013345",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013345",
            "name": "IDH2 D-2-hydroxyglutaric aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0013345",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013345",
            "name": "d-2-hydroxyglutaric aciduria 2",
            "description": ""
        },
        {
            "id": "MONDO:0013345",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013345",
            "name": "D2HGA2",
            "description": ""
        },
        {
            "id": "MIM:613657",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613657",
            "name": "D-2-hydroxyglutaric aciduria 2",
            "description": "D-2-hydroxyglutaric aciduria 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111352"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111352",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111352",
            "categories": []
        },
        {
            "id": "MONDO:0013345",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013345",
            "categories": []
        },
        {
            "id": "MIM:613657",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613657",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P54071-1",
            "uniprot_ac": "P54071",
            "uniprot_id": "IDHP_MOUSE",
            "refseq_ac": "NP_766599",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Isocitrate dehydrogenase [NADP], mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.42",
                    "type": "synonym"
                },
                {
                    "name": "ICD-M",
                    "type": "synonym"
                },
                {
                    "name": "IDH",
                    "type": "synonym"
                },
                {
                    "name": "IDP",
                    "type": "synonym"
                },
                {
                    "name": "NADP(+)-specific ICDH",
                    "type": "synonym"
                },
                {
                    "name": "NADP+-specific isocitrate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Oxalosuccinate decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase [NADP], mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase [NADP], mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "oxalosuccinate decarboxylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Idh2",
                    "type": "recommended"
                },
                {
                    "name": "E430004F23",
                    "type": "synonym"
                },
                {
                    "name": "IDPm",
                    "type": "synonym"
                },
                {
                    "name": "Idh-2",
                    "type": "synonym"
                },
                {
                    "name": "Idh2",
                    "type": "synonym"
                }
            ],
            "record_id": "P54071-1",
            "evidence": [
                {
                    "id": "0111352",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111352"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48735-1",
            "uniprot_ac": "P48735",
            "uniprot_id": "IDHP_HUMAN",
            "refseq_ac": "NP_001276839",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Isocitrate dehydrogenase [NADP], mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.42",
                    "type": "synonym"
                },
                {
                    "name": "ICD-M",
                    "type": "synonym"
                },
                {
                    "name": "IDH",
                    "type": "synonym"
                },
                {
                    "name": "IDP",
                    "type": "synonym"
                },
                {
                    "name": "NADP(+)-specific ICDH",
                    "type": "synonym"
                },
                {
                    "name": "Oxalosuccinate decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase (NADP(+)) 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase 2 (NADP+), mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase [NADP], mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "oxalosuccinate decarboxylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IDH2",
                    "type": "recommended"
                },
                {
                    "name": "D2HGA2",
                    "type": "synonym"
                },
                {
                    "name": "ICD-M",
                    "type": "synonym"
                },
                {
                    "name": "IDH-2",
                    "type": "synonym"
                },
                {
                    "name": "IDH2",
                    "type": "synonym"
                },
                {
                    "name": "IDHM",
                    "type": "synonym"
                },
                {
                    "name": "IDH",
                    "type": "synonym"
                },
                {
                    "name": "IDPM",
                    "type": "synonym"
                },
                {
                    "name": "IDP",
                    "type": "synonym"
                },
                {
                    "name": "mNADP-IDH",
                    "type": "synonym"
                }
            ],
            "record_id": "P48735-1",
            "evidence": [
                {
                    "id": "613657",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613657"
                },
                {
                    "id": "0111352",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111352"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41939-1",
            "uniprot_ac": "P41939",
            "uniprot_id": "IDHC_YEAST",
            "refseq_ac": "NP_013275",
            "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": "Isocitrate dehydrogenase [NADP] cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.42",
                    "type": "synonym"
                },
                {
                    "name": "IDH",
                    "type": "synonym"
                },
                {
                    "name": "IDP",
                    "type": "synonym"
                },
                {
                    "name": "NADP(+)-specific ICDH",
                    "type": "synonym"
                },
                {
                    "name": "Oxalosuccinate decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase (NADP(+)) IDP2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IDP2",
                    "type": "recommended"
                },
                {
                    "name": "IDP2",
                    "type": "synonym"
                },
                {
                    "name": "L9470.12",
                    "type": "synonym"
                }
            ],
            "record_id": "P41939-1",
            "evidence": [
                {
                    "id": "0111352",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111352"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53982-1",
            "uniprot_ac": "P53982",
            "uniprot_id": "IDHH_YEAST",
            "refseq_ac": "NP_014389",
            "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": "Isocitrate dehydrogenase [NADP]",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.42",
                    "type": "synonym"
                },
                {
                    "name": "IDH",
                    "type": "synonym"
                },
                {
                    "name": "IDP",
                    "type": "synonym"
                },
                {
                    "name": "NADP(+)-specific ICDH",
                    "type": "synonym"
                },
                {
                    "name": "Oxalosuccinate decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase (NADP(+)) IDP3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IDP3",
                    "type": "recommended"
                },
                {
                    "name": "IDP3",
                    "type": "synonym"
                },
                {
                    "name": "N2870",
                    "type": "synonym"
                }
            ],
            "record_id": "P53982-1",
            "evidence": [
                {
                    "id": "0111352",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111352"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P56574-1",
            "uniprot_ac": "P56574",
            "uniprot_id": "IDHP_RAT",
            "refseq_ac": "NP_001014183",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Isocitrate dehydrogenase [NADP], mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.42",
                    "type": "synonym"
                },
                {
                    "name": "ICD-M",
                    "type": "synonym"
                },
                {
                    "name": "IDH",
                    "type": "synonym"
                },
                {
                    "name": "IDP",
                    "type": "synonym"
                },
                {
                    "name": "NADP(+)-specific ICDH",
                    "type": "synonym"
                },
                {
                    "name": "Oxalosuccinate decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase (NADP(+)) 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase 2 (NADP+), mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase [NADP], mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase [NADP], mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "oxalosuccinate decarboxylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Idh2",
                    "type": "recommended"
                },
                {
                    "name": "Idh2",
                    "type": "synonym"
                }
            ],
            "record_id": "P56574-1",
            "evidence": [
                {
                    "id": "0111352",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111352"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111352"
}