{
    "disease_id": "DOID:0081063",
    "recommended_name": {
        "id": "DOID:0081063",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081063",
        "name": "DICER1 syndrome",
        "description": "A syndrome that is characterized by an increased risk of developing pleuropulmonary blastoma, multinodular goiter, ovarian Sertoli-Leydig cell tumors, and/or other types of tumors, and that has_material_basis_in heterozygous mutation in the DICER1 gene on chromosome 14q32. Mutations of the gene encoding the endoribonuclease, Dicer, disrupts the biogenesis and processing of miRNAs with subsequent disruption in control of gene expression."
    },
    "synonyms": [
        {
            "id": "DOID:0081063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081063",
            "name": "Pleuropulmonary blastoma familial tumor susceptibility syndrome",
            "description": ""
        },
        {
            "id": "DOID:0081063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081063",
            "name": "Pleuro-pulmonary blastoma familial tumor susceptibility syndrome",
            "description": ""
        },
        {
            "id": "DOID:0081063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081063",
            "name": "Pleuro-pulmonary blastoma familial tumor susceptibility",
            "description": ""
        },
        {
            "id": "DOID:0081063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081063",
            "name": "PPB familial tumor susceptibility syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011014",
            "name": "pleuropulmonary blastoma",
            "description": "A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas."
        },
        {
            "id": "MONDO:0011014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011014",
            "name": "childhood pulmonary blastoma",
            "description": ""
        },
        {
            "id": "MONDO:0011014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011014",
            "name": "paediatric pulmonary blastoma",
            "description": ""
        },
        {
            "id": "MONDO:0011014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011014",
            "name": "pediatric pulmonary blastoma",
            "description": ""
        },
        {
            "id": "MONDO:0011014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011014",
            "name": "pleuropulmonary blastoma",
            "description": ""
        },
        {
            "id": "MONDO:0011014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011014",
            "name": "pleuropulmonary blastoma (morphologic abnormality)",
            "description": ""
        },
        {
            "id": "MONDO:0011014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011014",
            "name": "pulmonary blastoma of childhood",
            "description": ""
        },
        {
            "id": "MONDO:0011014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011014",
            "name": "PPB",
            "description": ""
        },
        {
            "id": "MONDO:0011014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011014",
            "name": "PPB familial tumour and dysplasia syndrome",
            "description": ""
        },
        {
            "id": "MIM:601200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601200",
            "name": "Pleuropulmonary blastoma",
            "description": "Pleuropulmonary blastoma"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081063"
    ],
    "unlinked_id_list": []
}