{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0070743",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070743",
            "categories": []
        },
        {
            "id": "MONDO:0060589",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060589",
            "categories": []
        },
        {
            "id": "MIM:617732",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617732",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9BUF5-1",
            "uniprot_ac": "Q9BUF5",
            "uniprot_id": "TBB6_HUMAN",
            "refseq_ac": "NP_001290454",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin beta-6 chain",
                    "type": "recommended"
                },
                {
                    "name": "Tubulin beta class V",
                    "type": "synonym"
                },
                {
                    "name": "class V beta-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "tubulin beta MGC4083",
                    "type": "synonym"
                },
                {
                    "name": "tubulin beta class V",
                    "type": "synonym"
                },
                {
                    "name": "tubulin beta-6 chain isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "tubulin beta-6 chain",
                    "type": "synonym"
                },
                {
                    "name": "tubulin, beta 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TUBB6",
                    "type": "recommended"
                },
                {
                    "name": "FPVEPD",
                    "type": "synonym"
                },
                {
                    "name": "HsT1601",
                    "type": "synonym"
                },
                {
                    "name": "TUBB-5",
                    "type": "synonym"
                },
                {
                    "name": "TUBB6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BUF5-1",
            "evidence": [
                {
                    "id": "617732",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617732"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070743"
}