{
    "disease_id": "DOID:0060229", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009470", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009470", 
            "name": "Baraitser-Winter syndrome 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009470", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009470", 
            "name": "mental retardation with epilepsy and characteristic facies"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009470", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009470", 
            "name": "BRWS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009470", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009470", 
            "name": "pachygyria, mental retardation, epilepsy, and characteristic facies"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009470", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009470", 
            "name": "iris coloboma with ptosis, hypertelorism, and mental retardation"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009470", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009470", 
            "name": "Baraitser-Winter syndrome type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009470", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009470", 
            "name": "Fryns-Aftimos syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009470", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009470", 
            "name": "cerebrofrontofacial syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009470", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009470", 
            "name": "Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTB"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009470", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009470", 
            "name": "Baraitser-WINTER syndrome 1; BRWS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009470", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009470", 
            "name": "cerebrooculofacial lymphatic syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009470", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009470", 
            "name": "chromosome 7P22 deletion syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009470", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009470", 
            "name": "ACTB Baraitser-Winter cerebrofrontofacial syndrome"
        }, 
        {
            "url": "https://www.omim.org/entry/243310", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:243310", 
            "name": "Baraitser-Winter syndrome 1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060229", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060229", 
        "name": "Baraitser-Winter syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/243310", 
            "id": "243310", 
            "database": "MIM"
        }
    ]
}