{
    "disease_id": "DOID:0061217",
    "recommended_name": {
        "id": "DOID:0061217",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061217",
        "name": "pheochromocytoma/paraganglioma syndrome 2",
        "description": "A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHAF2 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0011121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011121",
            "name": "pheochromocytoma/paraganglioma syndrome 2",
            "description": "An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHAF2 gene, characterized by an increased risk of paraganglioma, particularly head and neck paragangliomas."
        },
        {
            "id": "MONDO:0011121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011121",
            "name": "SDHAF2 paraganglioma",
            "description": ""
        },
        {
            "id": "MONDO:0011121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011121",
            "name": "SDHAF2-related tumor predisposition",
            "description": ""
        },
        {
            "id": "MONDO:0011121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011121",
            "name": "paraganglioma caused by mutation in SDHAF2",
            "description": ""
        },
        {
            "id": "MONDO:0011121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011121",
            "name": "paragangliomas 2",
            "description": ""
        },
        {
            "id": "MONDO:0011121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011121",
            "name": "paragangliomas type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011121",
            "name": "pheochromocytoma/paraganglioma syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0011121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011121",
            "name": "PGL2",
            "description": ""
        },
        {
            "id": "MONDO:0011121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011121",
            "name": "SDHAF2-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 2)",
            "description": ""
        },
        {
            "id": "MIM:601650",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601650",
            "name": "Pheochromocytoma/paraganglioma syndrome 2",
            "description": "Pheochromocytoma/paraganglioma syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061217"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061217",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061217",
            "categories": []
        },
        {
            "id": "MONDO:0011121",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011121",
            "categories": []
        },
        {
            "id": "MIM:601650",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601650",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A3KP74-1",
            "uniprot_ac": "A3KP74",
            "uniprot_id": "SDHF2_DANRE",
            "refseq_ac": "NP_001076333",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Succinate dehydrogenase assembly factor 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "SDH assembly factor 2",
                    "type": "synonym"
                },
                {
                    "name": "SDHAF2",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase assembly factor 2, mitochondrial precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sdhaf2",
                    "type": "recommended"
                },
                {
                    "name": "pgl2",
                    "type": "synonym"
                },
                {
                    "name": "sdh5",
                    "type": "synonym"
                },
                {
                    "name": "sdhaf2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj30e04",
                    "type": "synonym"
                },
                {
                    "name": "zgc:163000",
                    "type": "synonym"
                }
            ],
            "record_id": "A3KP74-1",
            "evidence": [
                {
                    "id": "0061217",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061217"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C6I2-1",
            "uniprot_ac": "Q8C6I2",
            "uniprot_id": "SDHF2_MOUSE",
            "refseq_ac": "NP_079609",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Succinate dehydrogenase assembly factor 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "SDH assembly factor 2",
                    "type": "synonym"
                },
                {
                    "name": "SDHAF2",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase assembly factor 2, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase assembly factor 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase subunit 5, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sdhaf2",
                    "type": "recommended"
                },
                {
                    "name": "0610038F07Rik",
                    "type": "synonym"
                },
                {
                    "name": "PGL2",
                    "type": "synonym"
                },
                {
                    "name": "Pgl2",
                    "type": "synonym"
                },
                {
                    "name": "SDH5",
                    "type": "synonym"
                },
                {
                    "name": "SDHAF2",
                    "type": "synonym"
                },
                {
                    "name": "Sdh5",
                    "type": "synonym"
                },
                {
                    "name": "Sdhaf2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C6I2-1",
            "evidence": [
                {
                    "id": "0061217",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061217"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NX18-1",
            "uniprot_ac": "Q9NX18",
            "uniprot_id": "SDHF2_HUMAN",
            "refseq_ac": "NP_060311",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Succinate dehydrogenase assembly factor 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "SDH assembly factor 2",
                    "type": "synonym"
                },
                {
                    "name": "SDHAF2",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase assembly factor 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase subunit 5, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SDHAF2",
                    "type": "recommended"
                },
                {
                    "name": "C11orf79",
                    "type": "synonym"
                },
                {
                    "name": "PGL2",
                    "type": "synonym"
                },
                {
                    "name": "PPGL2",
                    "type": "synonym"
                },
                {
                    "name": "SDH5",
                    "type": "synonym"
                },
                {
                    "name": "SDHAF2",
                    "type": "synonym"
                },
                {
                    "name": "hSDH5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NX18-1",
            "evidence": [
                {
                    "id": "601650",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601650"
                },
                {
                    "id": "0061217",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061217"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08230-1",
            "uniprot_ac": "Q08230",
            "uniprot_id": "SDHF2_YEAST",
            "refseq_ac": "NP_014570",
            "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 assembly factor 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "SDH assembly factor 2",
                    "type": "synonym"
                },
                {
                    "name": "SDHAF2",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase assembly factor SDH5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SDH5",
                    "type": "recommended"
                },
                {
                    "name": "EMI5",
                    "type": "synonym"
                },
                {
                    "name": "SDH5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08230-1",
            "evidence": [
                {
                    "id": "0061217",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061217"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5RJQ7-1",
            "uniprot_ac": "Q5RJQ7",
            "uniprot_id": "SDHF2_RAT",
            "refseq_ac": "NP_001008372",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Succinate dehydrogenase assembly factor 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "SDH assembly factor 2",
                    "type": "synonym"
                },
                {
                    "name": "SDHAF2",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase assembly factor 2, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase assembly factor 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "succinate dehydrogenase subunit 5, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sdhaf2",
                    "type": "recommended"
                },
                {
                    "name": "PGL2",
                    "type": "synonym"
                },
                {
                    "name": "Pgl2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1309216",
                    "type": "synonym"
                },
                {
                    "name": "SDH5",
                    "type": "synonym"
                },
                {
                    "name": "SDHAF2",
                    "type": "synonym"
                },
                {
                    "name": "Sdh5",
                    "type": "synonym"
                },
                {
                    "name": "Sdhaf2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5RJQ7-1",
            "evidence": [
                {
                    "id": "0061217",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061217"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z897-1",
            "uniprot_ac": "A1Z897",
            "uniprot_id": "SDF2B_DROME",
            "refseq_ac": "NP_001260868",
            "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 assembly factor 2-B, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG12895-PB",
                    "type": "synonym"
                },
                {
                    "name": "SDH assembly factor 2-B",
                    "type": "synonym"
                },
                {
                    "name": "SDHAF2-B",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG12895",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RE29446",
                    "type": "synonym"
                },
                {
                    "name": "CG12895",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12895",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12895",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z897-1",
            "evidence": [
                {
                    "id": "0061217",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061217"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4V5I9-1",
            "uniprot_ac": "Q4V5I9",
            "uniprot_id": "SDF2A_DROME",
            "refseq_ac": "NP_610363",
            "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 assembly factor 2-A, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG14757-PA",
                    "type": "synonym"
                },
                {
                    "name": "SDH assembly factor 2-A",
                    "type": "synonym"
                },
                {
                    "name": "SDHAF2-A",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "146793_at",
                    "type": "synonym"
                },
                {
                    "name": "CG14757",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14757",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4V5I9-1",
            "evidence": [
                {
                    "id": "0061217",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061217"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061217"
}