{
    "disease_id": "DOID:0080790",
    "recommended_name": {
        "id": "DOID:0080790",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080790",
        "name": "Treacher Collins syndrome 2",
        "description": "A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12."
    },
    "synonyms": [
        {
            "id": "MONDO:0013385",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013385",
            "name": "Treacher Collins syndrome 2",
            "description": "Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene."
        },
        {
            "id": "MONDO:0013385",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013385",
            "name": "POLR1D Treacher-Collins syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013385",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013385",
            "name": "Treacher Collins syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0013385",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013385",
            "name": "Treacher Collins syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013385",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013385",
            "name": "Treacher-Collins syndrome caused by mutation in POLR1D",
            "description": ""
        },
        {
            "id": "MONDO:0013385",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013385",
            "name": "TCS2",
            "description": ""
        },
        {
            "id": "MIM:613717",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613717",
            "name": "Treacher Collins syndrome 2",
            "description": "Treacher Collins syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080790"
    ],
    "unlinked_id_list": []
}