{
    "disease_id": "DOID:0061218",
    "recommended_name": {
        "id": "DOID:0061218",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061218",
        "name": "pheochromocytoma/paraganglioma syndrome 3",
        "description": "A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHC gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0011544",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011544",
            "name": "pheochromocytoma/paraganglioma syndrome 3",
            "description": "An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHC gene, characterized by an increased risk of paraganglioma and pheochromocytoma, as well as an increased risk of renal cell carcinoma and gastrointestinal stromal tumors (GIST)."
        },
        {
            "id": "MONDO:0011544",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011544",
            "name": "SDHC paraganglioma",
            "description": ""
        },
        {
            "id": "MONDO:0011544",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011544",
            "name": "SDHC-related tumor predisposition",
            "description": ""
        },
        {
            "id": "MONDO:0011544",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011544",
            "name": "paraganglioma caused by mutation in SDHC",
            "description": ""
        },
        {
            "id": "MONDO:0011544",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011544",
            "name": "paragangliomas 3",
            "description": ""
        },
        {
            "id": "MONDO:0011544",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011544",
            "name": "paragangliomas type 3",
            "description": ""
        },
        {
            "id": "MONDO:0011544",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011544",
            "name": "pheochromocytoma/paraganglioma syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0011544",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011544",
            "name": "PGL3",
            "description": ""
        },
        {
            "id": "MONDO:0011544",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011544",
            "name": "SDHC-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 3)",
            "description": ""
        },
        {
            "id": "MIM:605373",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605373",
            "name": "Pheochromocytoma/paraganglioma syndrome 3",
            "description": "Pheochromocytoma/paraganglioma syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061218"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061218",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061218",
            "categories": []
        },
        {
            "id": "MONDO:0011544",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011544",
            "categories": []
        },
        {
            "id": "MIM:605373",
            "database": "MIM",
            "url": "https://www.omim.org/entry/605373",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0S5Q2-1",
            "uniprot_ac": "B0S5Q2",
            "uniprot_id": "B0S5Q2_DANRE",
            "refseq_ac": "NP_001003523",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Succinate dehydrogenase cytochrome b560 subunit, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Malate dehydrogenase [quinone] cytochrome b560 subunit",
                    "type": "synonym"
                },
                {
                    "name": "SDHCa",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase cytochrome b560 subunit, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sdhc",
                    "type": "recommended"
                },
                {
                    "name": "fa91d04",
                    "type": "synonym"
                },
                {
                    "name": "sdhc",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa91d04",
                    "type": "synonym"
                },
                {
                    "name": "zgc:100898",
                    "type": "synonym"
                }
            ],
            "record_id": "B0S5Q2-1",
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                {
                    "id": "0061218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061218"
                }
            ]
        },
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            "uniprot_ac": "Q9CZB0",
            "uniprot_id": "C560_MOUSE",
            "refseq_ac": "NP_079597",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Succinate dehydrogenase cytochrome b560 subunit, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Integral membrane protein CII-3",
                    "type": "synonym"
                },
                {
                    "name": "Malate dehydrogenase [quinone] cytochrome b560 subunit",
                    "type": "synonym"
                },
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                    "name": "QPs-1",
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                },
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                    "name": "QPs1",
                    "type": "synonym"
                },
                {
                    "name": "integral membrane protein CII-3",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase [quinone] cytochrome b560 subunit",
                    "type": "synonym"
                },
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                    "name": "succinate dehydrogenase cytochrome b560 subunit, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase cytochrome b560 subunit, mitochondrial",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Sdhc",
                    "type": "recommended"
                },
                {
                    "name": "0610010E03Rik",
                    "type": "synonym"
                },
                {
                    "name": "Sdhc",
                    "type": "synonym"
                }
            ],
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                    "id": "0061218",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0061218"
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            ]
        },
        {
            "uniprot_canonical_ac": "Q99643-1",
            "uniprot_ac": "Q99643",
            "uniprot_id": "C560_HUMAN",
            "refseq_ac": "NP_001030588",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Succinate dehydrogenase cytochrome b560 subunit, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CYBL",
                    "type": "synonym"
                },
                {
                    "name": "Integral membrane protein CII-3",
                    "type": "synonym"
                },
                {
                    "name": "Malate dehydrogenase [quinone] cytochrome b560 subunit",
                    "type": "synonym"
                },
                {
                    "name": "QPs-1",
                    "type": "synonym"
                },
                {
                    "name": "QPs1",
                    "type": "synonym"
                },
                {
                    "name": "Succinate dehydrogenase complex subunit C",
                    "type": "synonym"
                },
                {
                    "name": "Succinate-ubiquinone oxidoreductase cytochrome B large subunit",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome B large subunit of complex II",
                    "type": "synonym"
                },
                {
                    "name": "integral membrane protein CII-3b",
                    "type": "synonym"
                },
                {
                    "name": "large subunit of cytochrome b",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase [quinone] cytochrome b560 subunit",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrgenase cytochrome b",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase 3, integral membrane subunit",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase complex subunit C integral membrane protein 15kDa",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase cytochrome b560 subunit, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "succinate-ubiquinone oxidoreductase cytochrome B large subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SDHC",
                    "type": "recommended"
                },
                {
                    "name": "CYB560",
                    "type": "synonym"
                },
                {
                    "name": "CYBL",
                    "type": "synonym"
                },
                {
                    "name": "PGL3",
                    "type": "synonym"
                },
                {
                    "name": "PPGL3",
                    "type": "synonym"
                },
                {
                    "name": "QPS1",
                    "type": "synonym"
                },
                {
                    "name": "SDH3",
                    "type": "synonym"
                },
                {
                    "name": "SDHC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99643-1",
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                {
                    "id": "605373",
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                    "url": "https://www.omim.org/entry/605373"
                },
                {
                    "id": "0061218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04487-1",
            "uniprot_ac": "Q04487",
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            "refseq_ac": "NP_013836",
            "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": "Mitochondrial inner membrane protein SHH3",
                    "type": "recommended"
                },
                {
                    "name": "SDH3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein SHH3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SHH3",
                    "type": "recommended"
                },
                {
                    "name": "SHH3",
                    "type": "synonym"
                },
                {
                    "name": "YM9718.17C",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0061218",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0061218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P33421-1",
            "uniprot_ac": "P33421",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
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                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Succinate dehydrogenase [ubiquinone] cytochrome b subunit, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "succinate dehydrogenase cytochrome b subunit SDH3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SDH3",
                    "type": "recommended"
                },
                {
                    "name": "CYB3",
                    "type": "synonym"
                },
                {
                    "name": "SDH3",
                    "type": "synonym"
                },
                {
                    "name": "YKL4",
                    "type": "synonym"
                }
            ],
            "record_id": "P33421-1",
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                {
                    "id": "0061218",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0061218"
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        {
            "uniprot_canonical_ac": "Q641Z9-1",
            "uniprot_ac": "Q641Z9",
            "uniprot_id": "Q641Z9_RAT",
            "refseq_ac": "NP_001005534",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Succinate dehydrogenase cytochrome b560 subunit, mitochondrial",
                    "type": "recommended"
                },
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                    "name": "Integral membrane protein CII-3",
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                },
                {
                    "name": "Malate dehydrogenase [quinone] cytochrome b560 subunit",
                    "type": "synonym"
                },
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                },
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                    "type": "synonym"
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                    "type": "synonym"
                }
            ],
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                {
                    "name": "Sdhc",
                    "type": "recommended"
                },
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                    "name": "Sdhc",
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                    "id": "0061218",
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            ]
        },
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            "uniprot_ac": "Q9VGT9",
            "uniprot_id": "Q9VGT9_DROME",
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            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "1.3.-.-",
                    "type": "synonym"
                },
                {
                    "name": "CG6629-PA",
                    "type": "synonym"
                },
                {
                    "name": "SdhCL-PA",
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                },
                {
                    "name": "Succinate dehydrogenase, subunit C-like",
                    "type": "synonym"
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                {
                    "name": "succinate dehydrogenase, subunit C-like",
                    "type": "synonym"
                }
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                    "name": "SdhCL",
                    "type": "recommended"
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                {
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                },
                {
                    "name": "Dmel\\CG6629",
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                },
                {
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                },
                {
                    "name": "SdhCL",
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                }
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                    "id": "0061218",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0061218"
                }
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "type": "synonym"
                },
                {
                    "name": "SdhC-PB",
                    "type": "synonym"
                },
                {
                    "name": "Succinate dehydrogenase, subunit C, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Succinate dehydrogenase, subunit C, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase C",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase cytochrome B560 subunit",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase, subunit C, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SdhC",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RH04289",
                    "type": "synonym"
                },
                {
                    "name": "C560",
                    "type": "synonym"
                },
                {
                    "name": "CG6666",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6666",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6666",
                    "type": "synonym"
                },
                {
                    "name": "RH04289p",
                    "type": "synonym"
                },
                {
                    "name": "SDH-C",
                    "type": "synonym"
                },
                {
                    "name": "SDHC",
                    "type": "synonym"
                },
                {
                    "name": "SDH",
                    "type": "synonym"
                },
                {
                    "name": "SdhC",
                    "type": "synonym"
                },
                {
                    "name": "Sdhc",
                    "type": "synonym"
                },
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                    "name": "sdhC",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0061218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061218"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061218"
}