{
    "disease_id": "DOID:0080791",
    "recommended_name": {
        "id": "DOID:0080791",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080791",
        "name": "Treacher Collins syndrome 3",
        "description": "A Treacher Collins syndrome that has_material_basis_in compound heterozygous mutation in the POLR1C gene on chromosome 6p21."
    },
    "synonyms": [
        {
            "id": "MONDO:0009558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009558",
            "name": "Treacher Collins syndrome 3",
            "description": "Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene."
        },
        {
            "id": "MONDO:0009558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009558",
            "name": "Treacher-Collins syndrome caused by mutation in POLR1C",
            "description": ""
        },
        {
            "id": "MONDO:0009558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009558",
            "name": "TREACHER COLLINS syndrome 3; TCS3",
            "description": ""
        },
        {
            "id": "MONDO:0009558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009558",
            "name": "TCS3",
            "description": ""
        },
        {
            "id": "MONDO:0009558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009558",
            "name": "Treacher Collins syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0009558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009558",
            "name": "mandibulofacial dysostosis, Treacher Collins type, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009558",
            "name": "POLR1C Treacher-Collins syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009558",
            "name": "Treacher Collins syndrome type 3",
            "description": ""
        },
        {
            "id": "MIM:248390",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/248390",
            "name": "Treacher Collins syndrome 3",
            "description": "Treacher Collins syndrome 3"
        }
    ]
}