{
    "disease_id": "DOID:0080792",
    "recommended_name": {
        "id": "DOID:0080792",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080792",
        "name": "Treacher Collins syndrome 4",
        "description": "A Treacher Collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has_material_basis_in heterozygous mutation in the POLR1B gene on chromosome 2q14."
    },
    "synonyms": [
        {
            "id": "MONDO:0030067",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030067",
            "name": "Treacher Collins syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0030067",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030067",
            "name": "TCS4",
            "description": ""
        },
        {
            "id": "MONDO:0030067",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030067",
            "name": "TREACHER COLLINS SYNDROME 4",
            "description": ""
        },
        {
            "id": "MONDO:0030067",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030067",
            "name": "Treacher-Collins syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0030067",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030067",
            "name": "treacher collins syndrome 4",
            "description": ""
        },
        {
            "id": "MIM:618939",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618939",
            "name": "Treacher Collins syndrome 4",
            "description": "Treacher Collins syndrome 4"
        }
    ]
}