{
    "disease_id": "DOID:0081112",
    "recommended_name": {
        "id": "DOID:0081112",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081112",
        "name": "Baraitser-Winter syndrome 1",
        "description": "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome."
    },
    "synonyms": [
        {
            "id": "MONDO:0009470",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009470",
            "name": "Baraitser-Winter syndrome 1",
            "description": "Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene."
        },
        {
            "id": "MONDO:0009470",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009470",
            "name": "ACTB Baraitser-Winter cerebrofrontofacial syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009470",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009470",
            "name": "ACTB-related BAFopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009470",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009470",
            "name": "Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTB",
            "description": ""
        },
        {
            "id": "MONDO:0009470",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009470",
            "name": "Baraitser-Winter syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0009470",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009470",
            "name": "Baraitser-Winter syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009470",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009470",
            "name": "Fryns-Aftimos syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009470",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009470",
            "name": "cerebrofrontofacial syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009470",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009470",
            "name": "BRWS1",
            "description": ""
        },
        {
            "id": "MONDO:0009470",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009470",
            "name": "iris coloboma with ptosis, hypertelorism, and mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0009470",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009470",
            "name": "mental retardation with epilepsy and characteristic facies",
            "description": ""
        },
        {
            "id": "MONDO:0009470",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009470",
            "name": "pachygyria, mental retardation, epilepsy, and characteristic facies",
            "description": ""
        },
        {
            "id": "MIM:243310",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/243310",
            "name": "Baraitser-Winter syndrome 1",
            "description": "Baraitser-Winter syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081112"
    ],
    "unlinked_id_list": []
}