{
    "disease_id": "DOID:0060229",
    "recommended_name": {
        "id": "DOID:0060229",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060229",
        "name": "Baraitser-Winter syndrome",
        "description": "A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present."
    },
    "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": "DOID:0081112",
            "label": "Baraitser-Winter syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081113",
            "label": "Baraitser-Winter syndrome 2",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0081112",
        "DOID:0081113",
        "DOID:0060229"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060229",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060229",
            "categories": []
        },
        {
            "id": "MONDO:0009470",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009470",
            "categories": []
        },
        {
            "id": "MIM:243310",
            "database": "MIM",
            "url": "https://www.omim.org/entry/243310",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P60709-1",
            "uniprot_ac": "P60709",
            "uniprot_id": "ACTB_HUMAN",
            "refseq_ac": "NP_001092",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin, cytoplasmic 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "Beta-actin",
                    "type": "synonym"
                },
                {
                    "name": "I(2)-actin",
                    "type": "synonym"
                },
                {
                    "name": "PS1TP5-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "actin, cytoplasmic 1",
                    "type": "synonym"
                },
                {
                    "name": "beta cytoskeletal actin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ACTB",
                    "type": "recommended"
                },
                {
                    "name": "ACTB",
                    "type": "synonym"
                },
                {
                    "name": "BKRNS",
                    "type": "synonym"
                },
                {
                    "name": "BNS",
                    "type": "synonym"
                },
                {
                    "name": "BRWS1",
                    "type": "synonym"
                },
                {
                    "name": "CSMH",
                    "type": "synonym"
                },
                {
                    "name": "DDS1",
                    "type": "synonym"
                },
                {
                    "name": "PS1TP5BP1",
                    "type": "synonym"
                },
                {
                    "name": "THC8",
                    "type": "synonym"
                }
            ],
            "record_id": "P60709-1",
            "evidence": [
                {
                    "id": "243310",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/243310"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060229"
}