{
    "disease_id": "DOID:0070743",
    "recommended_name": {
        "id": "DOID:0070743",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070743",
        "name": "congenital facial palsy with ptosis and velopharyngeal dysfunction",
        "description": "A syndrome characterized by variable congenital nonprogressive bilateral facial palsy, velopharyngeal dysfunction, and ptosis, without limitation of ocular abduction, limb abnormalities, or impaired cognition that has_material_basis_in heterozygous mutation in the TUBB6 gene on chromosome 18p11."
    },
    "synonyms": [
        {
            "id": "DOID:0070743",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070743",
            "name": "FPVEPD",
            "description": ""
        },
        {
            "id": "MONDO:0060589",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060589",
            "name": "facial palsy, congenital, with ptosis and velopharyngeal dysfunction",
            "description": ""
        },
        {
            "id": "MONDO:0060589",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060589",
            "name": "facial palsy, congenital, with ptosis and velopharyngeal dysfunction",
            "description": ""
        },
        {
            "id": "MONDO:0060589",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060589",
            "name": "facial palsy, congenitla, with ptosis and velopharyngeal dysfunction",
            "description": ""
        },
        {
            "id": "MONDO:0060589",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060589",
            "name": "FPVEPD",
            "description": ""
        },
        {
            "id": "MIM:617732",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617732",
            "name": "Facial palsy, congenital, with ptosis and velopharyngeal dysfunction",
            "description": "Facial palsy, congenital, with ptosis and velopharyngeal dysfunction"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070743"
    ],
    "unlinked_id_list": []
}