{
    "disease_id": "DOID:0080218",
    "recommended_name": {
        "id": "DOID:0080218",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080218",
        "name": "primary spontaneous pneumothorax",
        "description": "A pneumothorax that is characterized by an abnormal accumulation of air in the space between the lungs and the chest cavity that can result in the partial or complete collapse of a lung."
    },
    "synonyms": [
        {
            "id": "MONDO:0008259",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008259",
            "name": "familial spontaneous pneumothorax",
            "description": "Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated."
        },
        {
            "id": "MONDO:0008259",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008259",
            "name": "primary spontaneous pneumothorax",
            "description": ""
        },
        {
            "id": "MONDO:0008259",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008259",
            "name": "spontaneous pneumothorax",
            "description": ""
        },
        {
            "id": "MIM:173600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/173600",
            "name": "Primary spontaneous pneumothorax",
            "description": "Primary spontaneous pneumothorax"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080218"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080218",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080218",
            "categories": []
        },
        {
            "id": "MONDO:0008259",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008259",
            "categories": []
        },
        {
            "id": "MIM:173600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/173600",
            "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": "0080218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080218"
                }
            ]
        },
        {
            "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": "0080218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080218"
                }
            ]
        },
        {
            "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": "173600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/173600"
                },
                {
                    "id": "0080218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080218"
                }
            ]
        },
        {
            "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": "0080218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080218"
                }
            ]
        },
        {
            "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": "0080218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080218"
                }
            ]
        },
        {
            "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": "0080218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080218"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080218"
}