{
    "disease_id": "DOID:0050676",
    "recommended_name": {
        "id": "DOID:0050676",
        "resource": "Disease Ontology",
        "url": "http://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:0007607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007607",
            "name": "Birt-Hogg-Dube syndrome",
            "description": "Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977."
        },
        {
            "id": "MONDO:0007607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007607",
            "name": "Birt-Hogg-Dube syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007607",
            "name": "fibrofolliculomas with trichodiscomas and acrochordons",
            "description": ""
        },
        {
            "id": "MONDO:0007607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007607",
            "name": "BHD",
            "description": ""
        },
        {
            "id": "MONDO:0007607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007607",
            "name": "BHD syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007607",
            "name": "Birt Hogg Dube syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007607",
            "name": "Birt-Hogg-Dub syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007607",
            "name": "Hornstein-Knickenberg syndrome",
            "description": ""
        },
        {
            "id": "MIM:135150",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/135150",
            "name": "Birt-Hogg-Dube syndrome",
            "description": "Birt-Hogg-Dube syndrome"
        }
    ]
}