{
    "disease_id": "DOID:0061219",
    "recommended_name": {
        "id": "DOID:0061219",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061219",
        "name": "pheochromocytoma/paraganglioma syndrome 4",
        "description": "A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHB gene, which encodes the iron sulfur subunit of succinate dehydrogenase, on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "MONDO:0007273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007273",
            "name": "pheochromocytoma/paraganglioma syndrome 4",
            "description": "An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHB 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:0007273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007273",
            "name": "SDHB paraganglioma",
            "description": ""
        },
        {
            "id": "MONDO:0007273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007273",
            "name": "SDHB-related tumor predisposition",
            "description": ""
        },
        {
            "id": "MONDO:0007273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007273",
            "name": "paraganglioma caused by mutation in SDHB",
            "description": ""
        },
        {
            "id": "MONDO:0007273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007273",
            "name": "paragangliomas 4",
            "description": ""
        },
        {
            "id": "MONDO:0007273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007273",
            "name": "paragangliomas type 4",
            "description": ""
        },
        {
            "id": "MONDO:0007273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007273",
            "name": "pheochromocytoma/paraganglioma syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0007273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007273",
            "name": "PGL4",
            "description": ""
        },
        {
            "id": "MONDO:0007273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007273",
            "name": "SDHB-related hereditary paraganglioma-pheochromocytoma syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007273",
            "name": "carotid body tumours and multiple extraadrenal Pheochromocytomas",
            "description": ""
        },
        {
            "id": "MONDO:0007273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007273",
            "name": "pheochromocytoma, extraadrenal and cervical paraganglioma",
            "description": ""
        },
        {
            "id": "MIM:115310",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/115310",
            "name": "Pheochromocytoma/paraganglioma syndrome 4",
            "description": "Pheochromocytoma/paraganglioma syndrome 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061219"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061219",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061219",
            "categories": []
        },
        {
            "id": "MONDO:0007273",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007273",
            "categories": []
        },
        {
            "id": "MIM:115310",
            "database": "MIM",
            "url": "https://www.omim.org/entry/115310",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A5PL98-1",
            "uniprot_ac": "A5PL98",
            "uniprot_id": "SDHB_DANRE",
            "refseq_ac": "NP_001092210",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.5.-",
                    "type": "synonym"
                },
                {
                    "name": "1.3.5.1",
                    "type": "synonym"
                },
                {
                    "name": "Ip",
                    "type": "synonym"
                },
                {
                    "name": "Iron-sulfur subunit of complex II",
                    "type": "synonym"
                },
                {
                    "name": "Malate dehydrogenase [quinone] iron-sulfur subunit",
                    "type": "synonym"
                },
                {
                    "name": "Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase [quinone] iron-sulfur subunit",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sdhb",
                    "type": "recommended"
                },
                {
                    "name": "Ip",
                    "type": "synonym"
                },
                {
                    "name": "fj46d06",
                    "type": "synonym"
                },
                {
                    "name": "sdhb",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj46d06",
                    "type": "synonym"
                }
            ],
            "record_id": "A5PL98-1",
            "evidence": [
                {
                    "id": "0061219",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061219"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CQA3-1",
            "uniprot_ac": "Q9CQA3",
            "uniprot_id": "SDHB_MOUSE",
            "refseq_ac": "NP_075863",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.5.-",
                    "type": "synonym"
                },
                {
                    "name": "1.3.5.1",
                    "type": "synonym"
                },
                {
                    "name": "Ip",
                    "type": "synonym"
                },
                {
                    "name": "Iron-sulfur subunit of complex II",
                    "type": "synonym"
                },
                {
                    "name": "Malate dehydrogenase [quinone] iron-sulfur subunit",
                    "type": "synonym"
                },
                {
                    "name": "ip",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur subunit of complex II",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase [quinone] iron-sulfur subunit",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase complex subunit B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sdhb",
                    "type": "recommended"
                },
                {
                    "name": "0710008N11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Sdhb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CQA3-1",
            "evidence": [
                {
                    "id": "0061219",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061219"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21912-1",
            "uniprot_ac": "P21912",
            "uniprot_id": "SDHB_HUMAN",
            "refseq_ac": "NP_002991",
            "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] iron-sulfur subunit, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.5.-",
                    "type": "synonym"
                },
                {
                    "name": "1.3.5.1",
                    "type": "synonym"
                },
                {
                    "name": "Ip",
                    "type": "synonym"
                },
                {
                    "name": "Iron-sulfur subunit of complex II",
                    "type": "synonym"
                },
                {
                    "name": "Malate dehydrogenase [quinone] iron-sulfur subunit",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur subunit of complex II",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase [quinone] iron-sulfur subunit",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase complex, subunit B, iron sulfur (Ip)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SDHB",
                    "type": "recommended"
                },
                {
                    "name": "CWS2",
                    "type": "synonym"
                },
                {
                    "name": "IP",
                    "type": "synonym"
                },
                {
                    "name": "MC2DN4",
                    "type": "synonym"
                },
                {
                    "name": "PGL4",
                    "type": "synonym"
                },
                {
                    "name": "PPGL4",
                    "type": "synonym"
                },
                {
                    "name": "SDH1",
                    "type": "synonym"
                },
                {
                    "name": "SDH2",
                    "type": "synonym"
                },
                {
                    "name": "SDHB",
                    "type": "synonym"
                },
                {
                    "name": "SDHIP",
                    "type": "synonym"
                },
                {
                    "name": "SDH",
                    "type": "synonym"
                }
            ],
            "record_id": "P21912-1",
            "evidence": [
                {
                    "id": "115310",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/115310"
                },
                {
                    "id": "0061219",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061219"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21801-1",
            "uniprot_ac": "P21801",
            "uniprot_id": "SDHB_YEAST",
            "refseq_ac": "NP_013059",
            "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] iron-sulfur subunit, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.3.5.1",
                    "type": "synonym"
                },
                {
                    "name": "Ip",
                    "type": "synonym"
                },
                {
                    "name": "Iron-sulfur subunit of complex II",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase iron-sulfur protein subunit SDH2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SDH2",
                    "type": "recommended"
                },
                {
                    "name": "ACN17",
                    "type": "synonym"
                },
                {
                    "name": "SDH2",
                    "type": "synonym"
                },
                {
                    "name": "SDHB",
                    "type": "synonym"
                },
                {
                    "name": "SDH",
                    "type": "synonym"
                }
            ],
            "record_id": "P21801-1",
            "evidence": [
                {
                    "id": "0061219",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061219"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21913-1",
            "uniprot_ac": "P21913",
            "uniprot_id": "SDHB_RAT",
            "refseq_ac": "NP_001094009",
            "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] iron-sulfur subunit, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.5.-",
                    "type": "synonym"
                },
                {
                    "name": "1.3.5.1",
                    "type": "synonym"
                },
                {
                    "name": "Ip",
                    "type": "synonym"
                },
                {
                    "name": "Iron-sulfur subunit of complex II",
                    "type": "synonym"
                },
                {
                    "name": "Malate dehydrogenase [quinone] iron-sulfur subunit",
                    "type": "synonym"
                },
                {
                    "name": "ip",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur subunit of complex II",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase [quinone] iron-sulfur subunit",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase complex, subunit B, iron sulfur (Ip)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sdhb",
                    "type": "recommended"
                },
                {
                    "name": "Sdh1",
                    "type": "synonym"
                },
                {
                    "name": "Sdhb",
                    "type": "synonym"
                }
            ],
            "record_id": "P21913-1",
            "evidence": [
                {
                    "id": "0061219",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061219"
                }
            ]
        },
        {
            "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": "0061219",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061219"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21914-1",
            "uniprot_ac": "P21914",
            "uniprot_id": "SDHB_DROME",
            "refseq_ac": "NP_477101",
            "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] 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": "0061219",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061219"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061219"
}