{
    "disease_id": "DOID:0061221",
    "recommended_name": {
        "id": "DOID:0061221",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061221",
        "name": "pheochromocytoma/paraganglioma syndrome 6",
        "description": "A paraganglioma characterized by the development of neuroendocrine neoplasms, known as paragangliomas that has material_basis_in heterozygous mutation in the SLC25A11 gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0032767",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032767",
            "name": "pheochromocytoma/paraganglioma syndrome 6",
            "description": ""
        },
        {
            "id": "MONDO:0032767",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032767",
            "name": "paragangliomas 6",
            "description": ""
        },
        {
            "id": "MONDO:0032767",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032767",
            "name": "pheochromocytoma/paraganglioma syndrome 6",
            "description": ""
        },
        {
            "id": "MONDO:0032767",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032767",
            "name": "PGL6",
            "description": ""
        },
        {
            "id": "MIM:618464",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618464",
            "name": "Pheochromocytoma/paraganglioma syndrome 6",
            "description": "Pheochromocytoma/paraganglioma syndrome 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061221"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061221",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061221",
            "categories": []
        },
        {
            "id": "MONDO:0032767",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032767",
            "categories": []
        },
        {
            "id": "MIM:618464",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618464",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9CR62-1",
            "uniprot_ac": "Q9CR62",
            "uniprot_id": "M2OM_MOUSE",
            "refseq_ac": "NP_077173",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial 2-oxoglutarate/malate carrier protein",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-oxoglutarate carrier",
                    "type": "synonym"
                },
                {
                    "name": "OGCP",
                    "type": "synonym"
                },
                {
                    "name": "SLC25A11",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 11",
                    "type": "synonym"
                },
                {
                    "name": "alpha-oxoglutarate carrier",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial 2-oxoglutarate/malate carrier protein",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 member 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc25a11",
                    "type": "recommended"
                },
                {
                    "name": "2310022P18Rik",
                    "type": "synonym"
                },
                {
                    "name": "2oxoc",
                    "type": "synonym"
                },
                {
                    "name": "Ogc",
                    "type": "synonym"
                },
                {
                    "name": "Slc25a11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CR62-1",
            "evidence": [
                {
                    "id": "0061221",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061221"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02978-1",
            "uniprot_ac": "Q02978",
            "uniprot_id": "M2OM_HUMAN",
            "refseq_ac": "NP_003553",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial 2-oxoglutarate/malate carrier protein",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-oxoglutarate carrier",
                    "type": "synonym"
                },
                {
                    "name": "OGCP",
                    "type": "synonym"
                },
                {
                    "name": "SLC25A11",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 11",
                    "type": "synonym"
                },
                {
                    "name": "alpha-oxoglutarate carrier",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial 2-oxoglutarate/malate carrier protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial 2-oxoglutarate/malate carrier protein",
                    "type": "synonym"
                },
                {
                    "name": "oxoglutarate carrier), member 11",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 20 (oxoglutarate carrier), member 4",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (mitochondrial carrier",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC25A11",
                    "type": "recommended"
                },
                {
                    "name": "OGC",
                    "type": "synonym"
                },
                {
                    "name": "PGL6",
                    "type": "synonym"
                },
                {
                    "name": "PPGL6",
                    "type": "synonym"
                },
                {
                    "name": "SLC20A4",
                    "type": "synonym"
                },
                {
                    "name": "SLC25A11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02978-1",
            "evidence": [
                {
                    "id": "618464",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618464"
                },
                {
                    "id": "0061221",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061221"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97700-1",
            "uniprot_ac": "P97700",
            "uniprot_id": "M2OM_RAT",
            "refseq_ac": "NP_071793",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial 2-oxoglutarate/malate carrier protein",
                    "type": "recommended"
                },
                {
                    "name": "2-oxoglutarate carrier",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-oxoglutarate carrier",
                    "type": "synonym"
                },
                {
                    "name": "OGCP",
                    "type": "synonym"
                },
                {
                    "name": "SLC25A11",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 11",
                    "type": "synonym"
                },
                {
                    "name": "alpha-oxoglutarate carrier",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial 2-oxoglutarate/malate carrier protein",
                    "type": "synonym"
                },
                {
                    "name": "oxoglutarate carrier), member 11",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (mitochondrial carrier",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc25a11",
                    "type": "recommended"
                },
                {
                    "name": "Slc20a4",
                    "type": "synonym"
                },
                {
                    "name": "Slc25a11",
                    "type": "synonym"
                }
            ],
            "record_id": "P97700-1",
            "evidence": [
                {
                    "id": "0061221",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061221"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VZ93-1",
            "uniprot_ac": "Q9VZ93",
            "uniprot_id": "Q9VZ93_DROME",
            "refseq_ac": "NP_647924",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial 2-oxoglutarate/malate carrier protein",
                    "type": "recommended"
                },
                {
                    "name": "CG18418-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "anon-WO0140519.190",
                    "type": "recommended"
                },
                {
                    "name": "CG18418",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18418",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG18418",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0140519.190",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VZ93-1",
            "evidence": [
                {
                    "id": "0061221",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061221"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VZ94-1",
            "uniprot_ac": "Q9VZ94",
            "uniprot_id": "Q9VZ94_DROME",
            "refseq_ac": "NP_647923",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial 2-oxoglutarate/malate carrier protein",
                    "type": "recommended"
                },
                {
                    "name": "CG7514-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG7514",
                    "type": "recommended"
                },
                {
                    "name": "CG7514",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7514",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7514",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VZ94-1",
            "evidence": [
                {
                    "id": "0061221",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061221"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAJ9-1",
            "uniprot_ac": "Q9VAJ9",
            "uniprot_id": "Q9VAJ9_DROME",
            "refseq_ac": "NP_651703",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial 2-oxoglutarate/malate carrier protein",
                    "type": "recommended"
                },
                {
                    "name": "CG1907-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG1907",
                    "type": "recommended"
                },
                {
                    "name": "CG 1907",
                    "type": "synonym"
                },
                {
                    "name": "CG1907",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1907",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1907",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VAJ9-1",
            "evidence": [
                {
                    "id": "0061221",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061221"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061221"
}