{
    "disease_id": "DOID:0080533",
    "recommended_name": {
        "id": "DOID:0080533",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080533",
        "name": "Carney-Stratakis syndrome",
        "description": "A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors."
    },
    "synonyms": [
        {
            "id": "MONDO:0011740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011740",
            "name": "Carney-Stratakis syndrome",
            "description": "Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites."
        },
        {
            "id": "MONDO:0011740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011740",
            "name": "Carney dyad",
            "description": ""
        },
        {
            "id": "MONDO:0011740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011740",
            "name": "Carney-Stratakis dyad",
            "description": ""
        },
        {
            "id": "MONDO:0011740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011740",
            "name": "Carney-Stratakis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011740",
            "name": "gist-paraganglioma dyad",
            "description": ""
        },
        {
            "id": "MONDO:0011740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011740",
            "name": "paraganglioma and gastric stromal sarcoma",
            "description": ""
        },
        {
            "id": "MONDO:0011740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011740",
            "name": "Carney-Stratakis dyad of paraganglioma and gastric stromal sarcoma",
            "description": ""
        },
        {
            "id": "MONDO:0011740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011740",
            "name": "paraganglioma and gastrointestinal stromal tumour",
            "description": ""
        },
        {
            "id": "MONDO:0011740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011740",
            "name": "paraganglioma and gist",
            "description": ""
        },
        {
            "id": "MIM:606864",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606864",
            "name": "Paraganglioma and gastric stromal sarcoma",
            "description": "Paraganglioma and gastric stromal sarcoma"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080533"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080533",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080533",
            "categories": []
        },
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            "url": "https://monarchinitiative.org/disease/MONDO:0011740",
            "categories": []
        },
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            "url": "https://www.omim.org/entry/606864",
            "categories": []
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                    "name": "Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial",
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                },
                {
                    "name": "CII-4",
                    "type": "synonym"
                },
                {
                    "name": "CybS",
                    "type": "synonym"
                },
                {
                    "name": "Malate dehydrogenase [quinone] cytochrome b small subunit",
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                },
                {
                    "name": "QPs3",
                    "type": "synonym"
                },
                {
                    "name": "Succinate dehydrogenase complex subunit D",
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                },
                {
                    "name": "Succinate-ubiquinone oxidoreductase cytochrome b small subunit",
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                },
                {
                    "name": "Succinate-ubiquinone reductase membrane anchor subunit",
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                },
                {
                    "name": "malate dehydrogenase [quinone] cytochrome b small subunit",
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                },
                {
                    "name": "succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform b precursor",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial",
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                },
                {
                    "name": "succinate dehydrogenase complex subunit D integral membrane protein",
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                },
                {
                    "name": "succinate-ubiquinone oxidoreductase cytochrome b small subunit",
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                {
                    "name": "succinate-ubiquinone reductase membrane anchor subunit",
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                    "name": "CWS3",
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                {
                    "name": "MC2DN3",
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                {
                    "name": "PGL",
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                    "name": "PPGL1",
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                    "name": "Homo sapiens",
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                    "name": "succinate dehydrogenase complex subunit C integral membrane protein 15kDa",
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                {
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                    "id": "0080533",
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                    "name": "YD9395.11",
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                    "id": "0080533",
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                {
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                    "name": "Succinate-ubiquinone reductase membrane anchor subunit",
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                    "name": "succinate dehydrogenase, subunit D",
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                {
                    "name": "Sdhd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VCI5-1",
            "evidence": [
                {
                    "id": "0080533",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080533"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VGS3-1",
            "uniprot_ac": "Q9VGS3",
            "uniprot_id": "Q9VGS3_DROME",
            "refseq_ac": "NP_001262472",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "1.3.-.-",
                    "type": "synonym"
                },
                {
                    "name": "CG6666-PB",
                    "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"
                },
                {
                    "name": "sdhC",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080533",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080533"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VGT9-1",
            "uniprot_ac": "Q9VGT9",
            "uniprot_id": "Q9VGT9_DROME",
            "refseq_ac": "NP_650041",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "1.3.-.-",
                    "type": "synonym"
                },
                {
                    "name": "CG6629-PA",
                    "type": "synonym"
                },
                {
                    "name": "SdhCL-PA",
                    "type": "synonym"
                },
                {
                    "name": "Succinate dehydrogenase, subunit C-like",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase, subunit C-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SdhCL",
                    "type": "recommended"
                },
                {
                    "name": "CG6629",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6629",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6629",
                    "type": "synonym"
                },
                {
                    "name": "SdhCL",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VGT9-1",
            "evidence": [
                {
                    "id": "0080533",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080533"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21914-1",
            "uniprot_ac": "P21914",
            "uniprot_id": "SDHB_DROME",
            "refseq_ac": "NP_477101",
            "glycoprotein": "no",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.3.5.1",
                    "type": "synonym"
                },
                {
                    "name": "CG3283-PA",
                    "type": "synonym"
                },
                {
                    "name": "COMPLEX II: iron-sulfur subunit",
                    "type": "synonym"
                },
                {
                    "name": "Ip",
                    "type": "synonym"
                },
                {
                    "name": "Iron-sulfur subunit of complex II",
                    "type": "synonym"
                },
                {
                    "name": "SdhB-PA",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur protein subunit of succinate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase B",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase Iron-sulfur protein",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase [ubiquinone] iron-sulfur protein",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase complex subunit B",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase iron protein",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase subunit b",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase, subunit B (iron-sulfur)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SdhB",
                    "type": "recommended"
                },
                {
                    "name": "CG3283",
                    "type": "synonym"
                },
                {
                    "name": "CII-SDHB",
                    "type": "synonym"
                },
                {
                    "name": "DHSB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3283",
                    "type": "synonym"
                },
                {
                    "name": "Ip",
                    "type": "synonym"
                },
                {
                    "name": "SDH-B",
                    "type": "synonym"
                },
                {
                    "name": "SDH-IP",
                    "type": "synonym"
                },
                {
                    "name": "SDH-Ip",
                    "type": "synonym"
                },
                {
                    "name": "SDHb",
                    "type": "synonym"
                },
                {
                    "name": "SDH",
                    "type": "synonym"
                },
                {
                    "name": "SdhB",
                    "type": "synonym"
                },
                {
                    "name": "Sdhb",
                    "type": "synonym"
                },
                {
                    "name": "sdhB",
                    "type": "synonym"
                }
            ],
            "record_id": "P21914-1",
            "evidence": [
                {
                    "id": "0080533",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080533"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VWN3-1",
            "uniprot_ac": "Q9VWN3",
            "uniprot_id": "Q9VWN3_DROME",
            "refseq_ac": "NP_001285420",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.3.5.1",
                    "type": "synonym"
                },
                {
                    "name": "CG7349-PC",
                    "type": "synonym"
                },
                {
                    "name": "SdhBL-PC",
                    "type": "synonym"
                },
                {
                    "name": "ferredoxin",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase Iron-sulfur protein",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase [ubiquinone] iron-sulfur protein",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase, subunit B (iron-sulfur)-like, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SdhBL",
                    "type": "recommended"
                },
                {
                    "name": "CG7349",
                    "type": "synonym"
                },
                {
                    "name": "DHSB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7349",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7349",
                    "type": "synonym"
                },
                {
                    "name": "SdhBL",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VWN3-1",
            "evidence": [
                {
                    "id": "0080533",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080533"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080533"
}