{
    "disease_id": "DOID:0080289", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033375", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033375", 
            "name": "orofaciodigital syndrome 17"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033375", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033375", 
            "name": "orofaciodigital syndrome XVII; OFD17"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033375", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033375", 
            "name": "OFD17"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033375", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033375", 
            "name": "Ofds 17"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033375", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033375", 
            "name": "oral-Facial-digital syndrome, type 17"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080289", 
        "description": "An orofaciodigital syndrome that has_material_basis_in homozygous mutation in the INTU gene on chromosome 4q28.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080289", 
        "name": "orofaciodigital syndrome XVII"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080289#disease-associations", 
            "id": "0080289", 
            "database": "Alliance of Genome Resources"
        }
    ]
}