{
    "disease_id": "DOID:0061216",
    "recommended_name": {
        "id": "DOID:0061216",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061216",
        "name": "pheochromocytoma/paraganglioma syndrome 1",
        "description": "A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHD gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0008192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008192",
            "name": "pheochromocytoma/paraganglioma syndrome 1",
            "description": "An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHD 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:0008192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008192",
            "name": "SDHD paraganglioma",
            "description": ""
        },
        {
            "id": "MONDO:0008192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008192",
            "name": "SDHD-related tumor predisposition",
            "description": ""
        },
        {
            "id": "MONDO:0008192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008192",
            "name": "paraganglioma caused by mutation in SDHD",
            "description": ""
        },
        {
            "id": "MONDO:0008192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008192",
            "name": "paragangliomas 1",
            "description": ""
        },
        {
            "id": "MONDO:0008192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008192",
            "name": "paragangliomas 1, with or without deafness",
            "description": ""
        },
        {
            "id": "MONDO:0008192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008192",
            "name": "paragangliomas type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008192",
            "name": "pheochromocytoma/paraganglioma syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0008192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008192",
            "name": "PGL1",
            "description": ""
        },
        {
            "id": "MONDO:0008192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008192",
            "name": "carotid body tumours",
            "description": ""
        },
        {
            "id": "MONDO:0008192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008192",
            "name": "glomus jugulare tumours",
            "description": ""
        },
        {
            "id": "MIM:168000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/168000",
            "name": "Pheochromocytoma/paraganglioma syndrome 1",
            "description": "Pheochromocytoma/paraganglioma syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061216"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061216",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061216",
            "categories": []
        },
        {
            "id": "MONDO:0008192",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008192",
            "categories": []
        },
        {
            "id": "MIM:168000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/168000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q68FN7-1",
            "uniprot_ac": "Q68FN7",
            "uniprot_id": "DHSDB_DANRE",
            "refseq_ac": "NP_001004004",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Succinate dehydrogenase [ubiquinone] cytochrome b small subunit B, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CybS-B",
                    "type": "synonym"
                },
                {
                    "name": "Malate dehydrogenase [quinone] cytochrome b small subunit",
                    "type": "synonym"
                },
                {
                    "name": "SDHD1",
                    "type": "synonym"
                },
                {
                    "name": "Succinate dehydrogenase complex subunit D-B",
                    "type": "synonym"
                },
                {
                    "name": "Succinate-ubiquinone oxidoreductase cytochrome b small subunit B",
                    "type": "synonym"
                },
                {
                    "name": "Succinate-ubiquinone reductase membrane anchor subunit B",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase [quinone] cytochrome b small subunit",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase [ubiquinone] cytochrome b small subunit B, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase complex subunit D-B",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase complex, subunit D, integral membrane protein a",
                    "type": "synonym"
                },
                {
                    "name": "succinate-ubiquinone oxidoreductase cytochrome b small subunit B",
                    "type": "synonym"
                },
                {
                    "name": "succinate-ubiquinone reductase membrane anchor subunit B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sdhdb",
                    "type": "recommended"
                },
                {
                    "name": "cybS-B",
                    "type": "synonym"
                },
                {
                    "name": "sdhda",
                    "type": "synonym"
                },
                {
                    "name": "sdhdb",
                    "type": "synonym"
                },
                {
                    "name": "sdhd",
                    "type": "synonym"
                },
                {
                    "name": "zgc:100986",
                    "type": "synonym"
                }
            ],
            "record_id": "Q68FN7-1",
            "evidence": [
                {
                    "id": "0061216",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061216"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6DGM2-1",
            "uniprot_ac": "Q6DGM2",
            "uniprot_id": "DHSDA_DANRE",
            "refseq_ac": "NP_001002489",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Succinate dehydrogenase [ubiquinone] cytochrome b small subunit A, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CybS-A",
                    "type": "synonym"
                },
                {
                    "name": "Malate dehydrogenase [quinone] cytochrome b small subunit",
                    "type": "synonym"
                },
                {
                    "name": "SDHD2",
                    "type": "synonym"
                },
                {
                    "name": "Succinate dehydrogenase complex subunit D-A",
                    "type": "synonym"
                },
                {
                    "name": "Succinate-ubiquinone oxidoreductase cytochrome b small subunit A",
                    "type": "synonym"
                },
                {
                    "name": "Succinate-ubiquinone reductase membrane anchor subunit A",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase [quinone] cytochrome b small subunit",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase [ubiquinone] cytochrome b small subunit A, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase complex subunit D-A",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase complex, subunit D, integral membrane protein b",
                    "type": "synonym"
                },
                {
                    "name": "succinate-ubiquinone oxidoreductase cytochrome b small subunit A",
                    "type": "synonym"
                },
                {
                    "name": "succinate-ubiquinone reductase membrane anchor subunit A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sdhda",
                    "type": "recommended"
                },
                {
                    "name": "cybS-A",
                    "type": "synonym"
                },
                {
                    "name": "sdhda",
                    "type": "synonym"
                },
                {
                    "name": "sdhdb",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92857",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DGM2-1",
            "evidence": [
                {
                    "id": "0061216",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061216"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CXV1-1",
            "uniprot_ac": "Q9CXV1",
            "uniprot_id": "DHSD_MOUSE",
            "refseq_ac": "NP_080124",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CII-4",
                    "type": "synonym"
                },
                {
                    "name": "CybS",
                    "type": "synonym"
                },
                {
                    "name": "Malate dehydrogenase [quinone] cytochrome b small subunit",
                    "type": "synonym"
                },
                {
                    "name": "QPs3",
                    "type": "synonym"
                },
                {
                    "name": "Succinate dehydrogenase complex subunit D",
                    "type": "synonym"
                },
                {
                    "name": "Succinate-ubiquinone oxidoreductase cytochrome b small subunit",
                    "type": "synonym"
                },
                {
                    "name": "Succinate-ubiquinone reductase membrane anchor subunit",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase [quinone] cytochrome b small subunit",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase complex subunit D",
                    "type": "synonym"
                },
                {
                    "name": "succinate-ubiquinone oxidoreductase cytochrome b small subunit",
                    "type": "synonym"
                },
                {
                    "name": "succinate-ubiquinone reductase membrane anchor subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sdhd",
                    "type": "recommended"
                },
                {
                    "name": "3110001M13Rik",
                    "type": "synonym"
                },
                {
                    "name": "AVLL5809",
                    "type": "synonym"
                },
                {
                    "name": "CII-4",
                    "type": "synonym"
                },
                {
                    "name": "PRO19626",
                    "type": "synonym"
                },
                {
                    "name": "QPs3",
                    "type": "synonym"
                },
                {
                    "name": "Sdhd",
                    "type": "synonym"
                },
                {
                    "name": "cybS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CXV1-1",
            "evidence": [
                {
                    "id": "0061216",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061216"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14521-1",
            "uniprot_ac": "O14521",
            "uniprot_id": "DHSD_HUMAN",
            "refseq_ac": "NP_001263432",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CII-4",
                    "type": "synonym"
                },
                {
                    "name": "CybS",
                    "type": "synonym"
                },
                {
                    "name": "Malate dehydrogenase [quinone] cytochrome b small subunit",
                    "type": "synonym"
                },
                {
                    "name": "QPs3",
                    "type": "synonym"
                },
                {
                    "name": "Succinate dehydrogenase complex subunit D",
                    "type": "synonym"
                },
                {
                    "name": "Succinate-ubiquinone oxidoreductase cytochrome b small subunit",
                    "type": "synonym"
                },
                {
                    "name": "Succinate-ubiquinone reductase membrane anchor subunit",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase [quinone] cytochrome b small subunit",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform b precursor",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase complex subunit D integral membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "succinate-ubiquinone oxidoreductase cytochrome b small subunit",
                    "type": "synonym"
                },
                {
                    "name": "succinate-ubiquinone reductase membrane anchor subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SDHD",
                    "type": "recommended"
                },
                {
                    "name": "CBT1",
                    "type": "synonym"
                },
                {
                    "name": "CII-4",
                    "type": "synonym"
                },
                {
                    "name": "CWS3",
                    "type": "synonym"
                },
                {
                    "name": "MC2DN3",
                    "type": "synonym"
                },
                {
                    "name": "PGL1",
                    "type": "synonym"
                },
                {
                    "name": "PGL",
                    "type": "synonym"
                },
                {
                    "name": "PPGL1",
                    "type": "synonym"
                },
                {
                    "name": "QPs3",
                    "type": "synonym"
                },
                {
                    "name": "SDH4",
                    "type": "synonym"
                },
                {
                    "name": "SDHD",
                    "type": "synonym"
                },
                {
                    "name": "cybS",
                    "type": "synonym"
                }
            ],
            "record_id": "O14521-1",
            "evidence": [
                {
                    "id": "168000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/168000"
                },
                {
                    "id": "0061216",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061216"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06236-1",
            "uniprot_ac": "Q06236",
            "uniprot_id": "SHH4_YEAST",
            "refseq_ac": "NP_013265",
            "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 SHH4",
                    "type": "recommended"
                },
                {
                    "name": "SDH4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein SHH4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SHH4",
                    "type": "recommended"
                },
                {
                    "name": "SHH4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06236-1",
            "evidence": [
                {
                    "id": "0061216",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061216"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P37298-1",
            "uniprot_ac": "P37298",
            "uniprot_id": "DHSD_YEAST",
            "refseq_ac": "NP_010463",
            "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": "Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CybS",
                    "type": "synonym"
                },
                {
                    "name": "Succinate-ubiquinone reductase membrane anchor subunit",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase membrane anchor subunit SDH4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SDH4",
                    "type": "recommended"
                },
                {
                    "name": "ACN18",
                    "type": "synonym"
                },
                {
                    "name": "SDH4",
                    "type": "synonym"
                },
                {
                    "name": "YD9395.11",
                    "type": "synonym"
                }
            ],
            "record_id": "P37298-1",
            "evidence": [
                {
                    "id": "0061216",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061216"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08749-1",
            "uniprot_ac": "Q08749",
            "uniprot_id": "TIM18_YEAST",
            "refseq_ac": "NP_014940",
            "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 import inner membrane translocase subunit TIM18",
                    "type": "recommended"
                },
                {
                    "name": "Tim18p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TIM18",
                    "type": "recommended"
                },
                {
                    "name": "TIM18",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08749-1",
            "evidence": [
                {
                    "id": "0061216",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061216"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PCT8-1",
            "uniprot_ac": "Q6PCT8",
            "uniprot_id": "DHSD_RAT",
            "refseq_ac": "NP_942083",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CII-4",
                    "type": "synonym"
                },
                {
                    "name": "CybS",
                    "type": "synonym"
                },
                {
                    "name": "Malate dehydrogenase [quinone] cytochrome b small subunit",
                    "type": "synonym"
                },
                {
                    "name": "QPs3",
                    "type": "synonym"
                },
                {
                    "name": "Succinate dehydrogenase complex subunit D",
                    "type": "synonym"
                },
                {
                    "name": "Succinate-ubiquinone oxidoreductase cytochrome b small subunit",
                    "type": "synonym"
                },
                {
                    "name": "Succinate-ubiquinone reductase membrane anchor subunit",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase [quinone] cytochrome b small subunit",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase complex, subunit D, integral membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "succinate-ubiquinone oxidoreductase cytochrome b small subunit",
                    "type": "synonym"
                },
                {
                    "name": "succinate-ubiquinone reductase membrane anchor subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sdhd",
                    "type": "recommended"
                },
                {
                    "name": "CII-4",
                    "type": "synonym"
                },
                {
                    "name": "QPs3",
                    "type": "synonym"
                },
                {
                    "name": "Sdhd",
                    "type": "synonym"
                },
                {
                    "name": "cybS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PCT8-1",
            "evidence": [
                {
                    "id": "0061216",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061216"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VCI5-1",
            "uniprot_ac": "Q9VCI5",
            "uniprot_id": "DHSD_DROME",
            "refseq_ac": "NP_651181",
            "glycoprotein": "no",
            "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] cytochrome b small subunit, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG10219-PA",
                    "type": "synonym"
                },
                {
                    "name": "CybS",
                    "type": "synonym"
                },
                {
                    "name": "SUCCINATE DEHYDROGENASE (UBIQUINONE) CYTOCHROME B SMALL SUBUNIT",
                    "type": "synonym"
                },
                {
                    "name": "SdhD-PA",
                    "type": "synonym"
                },
                {
                    "name": "Succinate dehydrogenase complex subunit D",
                    "type": "synonym"
                },
                {
                    "name": "Succinate-ubiquinone reductase membrane anchor subunit",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase [ubiquinone] cytochrome B small subunit",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase cytochrome b small subunit",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase, subunit D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SdhD",
                    "type": "recommended"
                },
                {
                    "name": "BEST:GH27735",
                    "type": "synonym"
                },
                {
                    "name": "CG10219",
                    "type": "synonym"
                },
                {
                    "name": "DHSD",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10219",
                    "type": "synonym"
                },
                {
                    "name": "SdhD",
                    "type": "synonym"
                },
                {
                    "name": "Sdhd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VCI5-1",
            "evidence": [
                {
                    "id": "0061216",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061216"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061216"
}