{
    "disease_id": "DOID:0111543",
    "recommended_name": {
        "id": "DOID:0111543",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111543",
        "name": "juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome",
        "description": "A syndrome characterized by hamartomatous polyps in the gastrointestinal tract, telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations of the lungs, liver, brain, and gastrointestinal tract that has_material_basis_in heterozygous mutation in the SMAD4 gene on chromosome 18q21.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111543",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111543",
            "name": "JP-HHT",
            "description": ""
        },
        {
            "id": "MONDO:0008278",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008278",
            "name": "juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome",
            "description": "An autosomal dominant syndrome caused by pathogenic variants in the SMAD4 gene, characterized by the combined features of juvenile polyposis syndrome (JPS) and hereditary hemorrhagic telangiectasia (HHT). JPS features include multiple juvenile polyps in the gastrointestinal tract and an increased risk of gastrointestinal cancers. HHT features include arteriovenous malformations (AVMs) and telangiectasias."
        },
        {
            "id": "MONDO:0008278",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008278",
            "name": "SMAD4-related juvenile polyposis/hemorrhagic telangiectasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008278",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008278",
            "name": "juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008278",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008278",
            "name": "JPHT",
            "description": ""
        },
        {
            "id": "MONDO:0008278",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008278",
            "name": "polyposis, generalised juvenile, with pulmonary arteriovenous malformation",
            "description": ""
        },
        {
            "id": "MIM:175050",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/175050",
            "name": "Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome",
            "description": "Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111543"
    ],
    "unlinked_id_list": []
}