{
    "disease_id": "DOID:0050676",
    "recommended_name": {
        "id": "DOID:0050676",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050676",
        "name": "Birt-Hogg-Dube syndrome",
        "description": "A skin disease that is characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax, has_material_basis_in heterozygous mutation in the gene encoding folliculin (FLCN) on chromosome 17p11."
    },
    "synonyms": [
        {
            "id": "MONDO:0800445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800445",
            "name": "Birt-Hogg-Dube syndrome 1",
            "description": "Any Birt-Hogg-Dube (BHD) syndrome in which the cause of the disease is a variation in the FLCN gene."
        },
        {
            "id": "MONDO:0800445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800445",
            "name": "Hornstein-Knickenberg syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0800445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800445",
            "name": "fibrofolliculomas with trichodiscomas and acrochordons",
            "description": ""
        },
        {
            "id": "MIM:135150",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/135150",
            "name": "Birt-Hogg-Dube syndrome 1",
            "description": "Birt-Hogg-Dube syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050676"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050676",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050676",
            "categories": []
        },
        {
            "id": "MONDO:0800445",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800445",
            "categories": []
        },
        {
            "id": "MIM:135150",
            "database": "MIM",
            "url": "https://www.omim.org/entry/135150",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R3E5-1",
            "uniprot_ac": "F1R3E5",
            "uniprot_id": "F1R3E5_DANRE",
            "refseq_ac": "XP_005157956",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Folliculin",
                    "type": "recommended"
                },
                {
                    "name": "folliculin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "flcn",
                    "type": "recommended"
                },
                {
                    "name": "flcn",
                    "type": "synonym"
                },
                {
                    "name": "wu:fe38g11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136982",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R3E5-1",
            "evidence": [
                {
                    "id": "0050676",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050676"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2BID7-1",
            "uniprot_ac": "A2BID7",
            "uniprot_id": "PRD10_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "PR domain zinc finger protein 10",
                    "type": "recommended"
                },
                {
                    "name": "PR domain-containing protein 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "prdm10",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-151h10.3",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-11k4.2",
                    "type": "synonym"
                }
            ],
            "record_id": "A2BID7-1",
            "evidence": [
                {
                    "id": "0050676",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050676"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8QZS3-1",
            "uniprot_ac": "Q8QZS3",
            "uniprot_id": "FLCN_MOUSE",
            "refseq_ac": "NP_001258285",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Folliculin",
                    "type": "recommended"
                },
                {
                    "name": "Birt-Hogg-Dube syndrome protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "birt-Hogg-Dube syndrome protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "folliculin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Flcn",
                    "type": "recommended"
                },
                {
                    "name": "B430214A04Rik",
                    "type": "synonym"
                },
                {
                    "name": "Bhd",
                    "type": "synonym"
                },
                {
                    "name": "FLCL",
                    "type": "synonym"
                },
                {
                    "name": "Flcn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8QZS3-1",
            "evidence": [
                {
                    "id": "0050676",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050676"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3UTQ7-1",
            "uniprot_ac": "Q3UTQ7",
            "uniprot_id": "PRD10_MOUSE",
            "refseq_ac": "NP_001398366",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "PR domain zinc finger protein 10",
                    "type": "recommended"
                },
                {
                    "name": "PR domain zinc finger protein 10 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "PR domain zinc finger protein 10",
                    "type": "synonym"
                },
                {
                    "name": "PR domain-containing protein 10",
                    "type": "synonym"
                },
                {
                    "name": "Tristanin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prdm10",
                    "type": "recommended"
                },
                {
                    "name": "Gm1112",
                    "type": "synonym"
                },
                {
                    "name": "Prdm10",
                    "type": "synonym"
                },
                {
                    "name": "Tris",
                    "type": "synonym"
                },
                {
                    "name": "tristanin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UTQ7-1",
            "evidence": [
                {
                    "id": "0050676",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050676"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NFG4-1",
            "uniprot_ac": "Q8NFG4",
            "uniprot_id": "FLCN_HUMAN",
            "refseq_ac": "NP_653207",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Folliculin",
                    "type": "recommended"
                },
                {
                    "name": "BHD skin lesion fibrofolliculoma protein",
                    "type": "synonym"
                },
                {
                    "name": "Birt-Hogg-Dube syndrome protein",
                    "type": "synonym"
                },
                {
                    "name": "birt-Hogg-Dube syndrome protein",
                    "type": "synonym"
                },
                {
                    "name": "folliculin isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FLCN",
                    "type": "recommended"
                },
                {
                    "name": "BHD",
                    "type": "synonym"
                },
                {
                    "name": "DENND8B",
                    "type": "synonym"
                },
                {
                    "name": "FLCL",
                    "type": "synonym"
                },
                {
                    "name": "FLCN",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NFG4-1",
            "evidence": [
                {
                    "id": "135150",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/135150"
                },
                {
                    "id": "0050676",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050676"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53237-1",
            "uniprot_ac": "P53237",
            "uniprot_id": "LST7_YEAST",
            "refseq_ac": "NP_011571",
            "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": "Protein LST7",
                    "type": "recommended"
                },
                {
                    "name": "Lethal with SEC thirteen protein 7",
                    "type": "synonym"
                },
                {
                    "name": "Lst7p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LST7",
                    "type": "recommended"
                },
                {
                    "name": "LST7",
                    "type": "synonym"
                }
            ],
            "record_id": "P53237-1",
            "evidence": [
                {
                    "id": "0050676",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050676"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q76JQ2-1",
            "uniprot_ac": "Q76JQ2",
            "uniprot_id": "FLCN_RAT",
            "refseq_ac": "NP_955422",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Folliculin",
                    "type": "recommended"
                },
                {
                    "name": "Birt-Hogg-Dube syndrome protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "birt-Hogg-Dube syndrome protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "folliculin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Flcn",
                    "type": "recommended"
                },
                {
                    "name": "Bhd",
                    "type": "synonym"
                },
                {
                    "name": "Flcn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q76JQ2-1",
            "evidence": [
                {
                    "id": "0050676",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050676"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZQ79-1",
            "uniprot_ac": "D3ZQ79",
            "uniprot_id": "D3ZQ79_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "PR domain zinc finger protein 10",
                    "type": "recommended"
                },
                {
                    "name": "PR domain-containing protein 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prdm10",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZQ79-1",
            "evidence": [
                {
                    "id": "0050676",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050676"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VS33-1",
            "uniprot_ac": "Q9VS33",
            "uniprot_id": "Q9VS33_DROME",
            "refseq_ac": "NP_648090",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Folliculin",
                    "type": "recommended"
                },
                {
                    "name": "BHD-PA",
                    "type": "synonym"
                },
                {
                    "name": "Birt-Hogg-Dube homolog",
                    "type": "synonym"
                },
                {
                    "name": "Birt-Hogg-Dube syndrome",
                    "type": "synonym"
                },
                {
                    "name": "Birt-Hogg-Dube",
                    "type": "synonym"
                },
                {
                    "name": "CG8616-PA",
                    "type": "synonym"
                },
                {
                    "name": "GABA A receptor beta3-like",
                    "type": "synonym"
                },
                {
                    "name": "folliculin homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BHD",
                    "type": "recommended"
                },
                {
                    "name": "BHD",
                    "type": "synonym"
                },
                {
                    "name": "CG8616",
                    "type": "synonym"
                },
                {
                    "name": "CT25610",
                    "type": "synonym"
                },
                {
                    "name": "DBHD",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8616",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8616",
                    "type": "synonym"
                },
                {
                    "name": "dFLCN",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VS33-1",
            "evidence": [
                {
                    "id": "0050676",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050676"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15619-1",
            "uniprot_ac": "P15619",
            "uniprot_id": "SRYC_DROME",
            "refseq_ac": "NP_476900",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serendipity locus protein H-1",
                    "type": "recommended"
                },
                {
                    "name": "CG1454-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein pourquoi-pas",
                    "type": "synonym"
                },
                {
                    "name": "Protein wings-down",
                    "type": "synonym"
                },
                {
                    "name": "pourquoi-pas",
                    "type": "synonym"
                },
                {
                    "name": "serendipity cognate",
                    "type": "synonym"
                },
                {
                    "name": "serendipity-cognate",
                    "type": "synonym"
                },
                {
                    "name": "wdn-PA",
                    "type": "synonym"
                },
                {
                    "name": "wings down",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wdn",
                    "type": "recommended"
                },
                {
                    "name": "CG1454",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1454",
                    "type": "synonym"
                },
                {
                    "name": "Sry-c",
                    "type": "synonym"
                },
                {
                    "name": "Sryc",
                    "type": "synonym"
                },
                {
                    "name": "pqp",
                    "type": "synonym"
                },
                {
                    "name": "sry h-1",
                    "type": "synonym"
                },
                {
                    "name": "sry h-l",
                    "type": "synonym"
                },
                {
                    "name": "sry-c",
                    "type": "synonym"
                },
                {
                    "name": "sry-h1",
                    "type": "synonym"
                },
                {
                    "name": "wdn",
                    "type": "synonym"
                }
            ],
            "record_id": "P15619-1",
            "evidence": [
                {
                    "id": "0050676",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050676"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NQV6-3",
            "uniprot_ac": "Q9NQV6",
            "uniprot_id": "PRD10_HUMAN",
            "refseq_ac": "NP_064613",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "PR domain zinc finger protein 10",
                    "type": "recommended"
                },
                {
                    "name": "PR domain 10",
                    "type": "synonym"
                },
                {
                    "name": "PR domain containing 10",
                    "type": "synonym"
                },
                {
                    "name": "PR domain zinc finger protein 10 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "PR domain zinc finger protein 10",
                    "type": "synonym"
                },
                {
                    "name": "PR domain-containing protein 10",
                    "type": "synonym"
                },
                {
                    "name": "PR-domain family member 7",
                    "type": "synonym"
                },
                {
                    "name": "PRDM zinc finger transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "Tristanin",
                    "type": "synonym"
                },
                {
                    "name": "tristanin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRDM10",
                    "type": "recommended"
                },
                {
                    "name": "BHD2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1231",
                    "type": "synonym"
                },
                {
                    "name": "PFM7",
                    "type": "synonym"
                },
                {
                    "name": "PRDM10",
                    "type": "synonym"
                },
                {
                    "name": "TRIS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NQV6-3",
            "evidence": [
                {
                    "id": "0050676",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050676"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050676"
}