{
    "disease_id": "DOID:0111543", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008278", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008278", 
            "name": "juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008278", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008278", 
            "name": "polyposis, generalized juvenile, with pulmonary arteriovenous malformation"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008278", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008278", 
            "name": "JPHT"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008278", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008278", 
            "name": "juvenile polyposis with hereditary hemorrhagic telangiectasia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008278", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008278", 
            "name": "JP/Hht syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008278", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008278", 
            "name": "juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; JPHT"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008278", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008278", 
            "name": "jPS/Hht"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008278", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008278", 
            "name": "telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111543", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111543", 
            "name": "JP-HHT"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111543", 
        "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 SMAD4 on chromosome 18q21.2.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111543", 
        "name": "juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111543#disease-associations", 
            "id": "0111543", 
            "database": "Alliance of Genome Resources"
        }
    ]
}