{
    "disease_id": "DOID:0050657",
    "recommended_name": {
        "id": "DOID:0050657",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050657",
        "name": "Cowden syndrome 1",
        "description": "A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23."
    },
    "synonyms": [
        {
            "id": "DOID:0050657",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050657",
            "name": "PTEN hamartoma tumor syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050657",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050657",
            "name": "PHTS",
            "description": ""
        },
        {
            "id": "DOID:0050657",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050657",
            "name": "PTEN hamartoma tumour syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007924",
            "name": "Bannayan-Riley-Ruvalcaba syndrome",
            "description": "Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis."
        },
        {
            "id": "MONDO:0007924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007924",
            "name": "BRRS",
            "description": ""
        },
        {
            "id": "MONDO:0007924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007924",
            "name": "Bannayan syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007924",
            "name": "Bannayan-Riley-Ruvalcaba syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007924",
            "name": "Bannayan-Zonana syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007924",
            "name": "Myhre-Riley-Smith syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007924",
            "name": "RILEY-SMITH syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007924",
            "name": "Ruvalcaba-MYHRE-SMITH syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007924",
            "name": "macrocephaly with multiple lipomas and hemangiomas",
            "description": ""
        },
        {
            "id": "MONDO:0007924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007924",
            "name": "BZS",
            "description": ""
        },
        {
            "id": "MONDO:0007924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007924",
            "name": "RMSS",
            "description": ""
        },
        {
            "id": "MONDO:0007924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007924",
            "name": "Ruvalcaba -Myhre-Smith syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007924",
            "name": "macrocephaly multiple lipomas and hemangiomata",
            "description": ""
        },
        {
            "id": "MONDO:0007924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007924",
            "name": "macrocephaly pseudopapilledema and multiple hemangiomas",
            "description": ""
        },
        {
            "id": "MONDO:0008021",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008021",
            "name": "Cowden syndrome 1",
            "description": "Any Cowden disease in which the cause of the disease is a mutation in the PTEN gene."
        },
        {
            "id": "MONDO:0008021",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008021",
            "name": "Cowden disease caused by mutation in PTEN",
            "description": ""
        },
        {
            "id": "MONDO:0008021",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008021",
            "name": "Cowden syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0008021",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008021",
            "name": "Cowden syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008021",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008021",
            "name": "Lhermitte-Duclos syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008021",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008021",
            "name": "PTEN Cowden disease",
            "description": ""
        },
        {
            "id": "MONDO:0008021",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008021",
            "name": "CS",
            "description": ""
        },
        {
            "id": "MONDO:0008021",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008021",
            "name": "CWS1",
            "description": ""
        },
        {
            "id": "MIM:158350",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/158350",
            "name": "Cowden syndrome 1",
            "description": "Cowden syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050657"
    ],
    "unlinked_id_list": []
}