{
    "disease_id": "DOID:0081113",
    "recommended_name": {
        "id": "DOID:0081113",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081113",
        "name": "Baraitser-Winter syndrome 2",
        "description": "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25."
    },
    "synonyms": [
        {
            "id": "MONDO:0013812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013812",
            "name": "Baraitser-winter syndrome 2",
            "description": "Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTG1 gene."
        },
        {
            "id": "MONDO:0013812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013812",
            "name": "ACTG1 Baraitser-Winter cerebrofrontofacial syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013812",
            "name": "Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTG1",
            "description": ""
        },
        {
            "id": "MONDO:0013812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013812",
            "name": "Baraitser-Winter syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013812",
            "name": "Baraitser-winter syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0013812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013812",
            "name": "BRWS2",
            "description": ""
        },
        {
            "id": "MIM:614583",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614583",
            "name": "Baraitser-Winter syndrome 2",
            "description": "Baraitser-Winter syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081113"
    ],
    "unlinked_id_list": []
}