{
    "disease_id": "DOID:0080254",
    "recommended_name": {
        "id": "DOID:0080254",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080254",
        "name": "orofaciodigital syndrome XVI",
        "description": "An orofaciodigital syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0033045",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033045",
            "name": "orofaciodigital syndrome 16",
            "description": ""
        },
        {
            "id": "MONDO:0033045",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033045",
            "name": "orofaciodigital syndrome XVI; OFD16",
            "description": ""
        },
        {
            "id": "MONDO:0033045",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033045",
            "name": "OFD16",
            "description": ""
        },
        {
            "id": "MONDO:0033045",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033045",
            "name": "orofaciodigital syndrome XVI",
            "description": ""
        },
        {
            "id": "MONDO:0033045",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033045",
            "name": "Ofds 16",
            "description": ""
        },
        {
            "id": "MONDO:0033045",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033045",
            "name": "oral-Facial-digital syndrome, type 16",
            "description": ""
        },
        {
            "id": "MIM:617563",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617563",
            "name": "Orofaciodigital syndrome 16",
            "description": "Orofaciodigital syndrome 16"
        }
    ]
}