{
    "disease_id": "DOID:0061222",
    "recommended_name": {
        "id": "DOID:0061222",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061222",
        "name": "pheochromocytoma/paraganglioma syndrome 7",
        "description": "A paraganglioma characterized by the development of neuroendocrine neoplasms, known as paragangliomas that has material_basis_in heterozygous mutation in the DLST gene on chromosome 14q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0032771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032771",
            "name": "pheochromocytoma/paraganglioma syndrome 7",
            "description": ""
        },
        {
            "id": "MONDO:0032771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032771",
            "name": "paragangliomas 7",
            "description": ""
        },
        {
            "id": "MONDO:0032771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032771",
            "name": "pheochromocytoma/paraganglioma syndrome 7",
            "description": ""
        },
        {
            "id": "MONDO:0032771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032771",
            "name": "PGL7",
            "description": ""
        },
        {
            "id": "MIM:618475",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618475",
            "name": "Pheochromocytoma/paraganglioma syndrome 7",
            "description": "Pheochromocytoma/paraganglioma syndrome 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061222"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061222",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061222",
            "categories": []
        },
        {
            "id": "MONDO:0032771",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032771",
            "categories": []
        },
        {
            "id": "MIM:618475",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618475",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D2G2-1",
            "uniprot_ac": "Q9D2G2",
            "uniprot_id": "ODO2_MOUSE",
            "refseq_ac": "NP_084501",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2-oxoglutarate dehydrogenase complex component E2",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.61",
                    "type": "synonym"
                },
                {
                    "name": "Dihydrolipoamide succinyltransferase component of 2-oxoglutarate dehydrogenase complex",
                    "type": "synonym"
                },
                {
                    "name": "E2K",
                    "type": "synonym"
                },
                {
                    "name": "OGDC-E2",
                    "type": "synonym"
                },
                {
                    "name": "dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)",
                    "type": "synonym"
                },
                {
                    "name": "dihydrolipoamide succinyltransferase component of 2-oxoglutarate dehydrogenase complex",
                    "type": "synonym"
                },
                {
                    "name": "dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dlst",
                    "type": "recommended"
                },
                {
                    "name": "1600017E01Rik",
                    "type": "synonym"
                },
                {
                    "name": "4632413C10Rik",
                    "type": "synonym"
                },
                {
                    "name": "4930529O08Rik",
                    "type": "synonym"
                },
                {
                    "name": "DLTS",
                    "type": "synonym"
                },
                {
                    "name": "Dlst",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D2G2-1",
            "evidence": [
                {
                    "id": "0061222",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061222"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36957-1",
            "uniprot_ac": "P36957",
            "uniprot_id": "ODO2_HUMAN",
            "refseq_ac": "NP_001924",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2-oxoglutarate dehydrogenase complex component E2",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.61",
                    "type": "synonym"
                },
                {
                    "name": "Dihydrolipoamide succinyltransferase component of 2-oxoglutarate dehydrogenase complex",
                    "type": "synonym"
                },
                {
                    "name": "E2K",
                    "type": "synonym"
                },
                {
                    "name": "OGDC-E2",
                    "type": "synonym"
                },
                {
                    "name": "dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)",
                    "type": "synonym"
                },
                {
                    "name": "dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DLST",
                    "type": "recommended"
                },
                {
                    "name": "DLST",
                    "type": "synonym"
                },
                {
                    "name": "DLTS",
                    "type": "synonym"
                },
                {
                    "name": "KGD2",
                    "type": "synonym"
                },
                {
                    "name": "PGL7",
                    "type": "synonym"
                },
                {
                    "name": "PPGL7",
                    "type": "synonym"
                }
            ],
            "record_id": "P36957-1",
            "evidence": [
                {
                    "id": "618475",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618475"
                },
                {
                    "id": "0061222",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061222"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19262-1",
            "uniprot_ac": "P19262",
            "uniprot_id": "ODO2_YEAST",
            "refseq_ac": "NP_010432",
            "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": "Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2-oxoglutarate dehydrogenase complex component E2",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.61",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-ketoglutarate dehydrogenase subunit E2",
                    "type": "synonym"
                },
                {
                    "name": "DLST",
                    "type": "synonym"
                },
                {
                    "name": "Dihydrolipoamide succinyltransferase component of 2-oxoglutarate dehydrogenase complex",
                    "type": "synonym"
                },
                {
                    "name": "OGDC-E2",
                    "type": "synonym"
                },
                {
                    "name": "OGDHC subunit E2",
                    "type": "synonym"
                },
                {
                    "name": "alpha-KGDHC subunit E2",
                    "type": "synonym"
                },
                {
                    "name": "dihydrolipoyl transsuccinylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KGD2",
                    "type": "recommended"
                },
                {
                    "name": "KGD2",
                    "type": "synonym"
                },
                {
                    "name": "YD8358.05C",
                    "type": "synonym"
                }
            ],
            "record_id": "P19262-1",
            "evidence": [
                {
                    "id": "0061222",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061222"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01205-1",
            "uniprot_ac": "Q01205",
            "uniprot_id": "ODO2_RAT",
            "refseq_ac": "NP_001006982",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2-oxoglutarate dehydrogenase complex component E2",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.61",
                    "type": "synonym"
                },
                {
                    "name": "Dihydrolipoamide succinyltransferase component of 2-oxoglutarate dehydrogenase complex",
                    "type": "synonym"
                },
                {
                    "name": "E2K",
                    "type": "synonym"
                },
                {
                    "name": "E2",
                    "type": "synonym"
                },
                {
                    "name": "OGDC-E2",
                    "type": "synonym"
                },
                {
                    "name": "dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)",
                    "type": "synonym"
                },
                {
                    "name": "dihydrolipoamide succinyltransferase component of 2-oxoglutarate dehydrogenase complex",
                    "type": "synonym"
                },
                {
                    "name": "dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dlst",
                    "type": "recommended"
                },
                {
                    "name": "Dlst",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01205-1",
            "evidence": [
                {
                    "id": "0061222",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061222"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23565-1",
            "uniprot_ac": "P23565",
            "uniprot_id": "AINX_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-internexin",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-Inx",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ina",
                    "type": "recommended"
                },
                {
                    "name": "Inexa",
                    "type": "synonym"
                }
            ],
            "record_id": "P23565-1",
            "evidence": [
                {
                    "id": "0061222",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061222"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VGQ1-1",
            "uniprot_ac": "Q9VGQ1",
            "uniprot_id": "Q9VGQ1_DROME",
            "refseq_ac": "NP_650064",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2-oxoglutarate dehydrogenase complex component E2",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.61",
                    "type": "synonym"
                },
                {
                    "name": "CG5214-PA",
                    "type": "synonym"
                },
                {
                    "name": "E2K",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dlst",
                    "type": "recommended"
                },
                {
                    "name": "CG5214",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5214",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5214",
                    "type": "synonym"
                },
                {
                    "name": "GM01350p",
                    "type": "synonym"
                },
                {
                    "name": "Q9VGQ1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-KGDHC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VGQ1-1",
            "evidence": [
                {
                    "id": "0061222",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061222"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061222"
}