{
    "disease_id": "DOID:0080289",
    "recommended_name": {
        "id": "DOID:0080289",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080289",
        "name": "orofaciodigital syndrome XVII",
        "description": "An orofaciodigital syndrome that has_material_basis_in homozygous mutation in the INTU gene on chromosome 4q28."
    },
    "synonyms": [
        {
            "id": "MONDO:0033375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033375",
            "name": "orofaciodigital syndrome 17",
            "description": ""
        },
        {
            "id": "MONDO:0033375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033375",
            "name": "orofaciodigital syndrome XVII; OFD17",
            "description": ""
        },
        {
            "id": "MONDO:0033375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033375",
            "name": "orofaciodigital syndrome XVII",
            "description": ""
        },
        {
            "id": "MONDO:0033375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033375",
            "name": "OFD17",
            "description": ""
        },
        {
            "id": "MONDO:0033375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033375",
            "name": "Ofds 17",
            "description": ""
        },
        {
            "id": "MONDO:0033375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033375",
            "name": "oral-Facial-digital syndrome, type 17",
            "description": ""
        },
        {
            "id": "MIM:617926",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617926",
            "name": "Orofaciodigital syndrome 17",
            "description": "Orofaciodigital syndrome 17"
        }
    ]
}