{
    "disease_id": "DOID:14731",
    "recommended_name": {
        "id": "DOID:14731",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:14731",
        "name": "Weaver syndrome",
        "description": "A syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and has_material_basis_in heterozygous mutation in the EZH2 gene on chromosome 7q36."
    },
    "synonyms": [
        {
            "id": "DOID:14731",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14731",
            "name": "WEAVER-LIKE SYNDROME",
            "description": ""
        },
        {
            "id": "DOID:14731",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14731",
            "name": "Weaver-Williams syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010193",
            "name": "Weaver syndrome",
            "description": "Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry."
        },
        {
            "id": "MONDO:0010193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010193",
            "name": "Weaver syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010193",
            "name": "EZH2 related overgrowth",
            "description": ""
        },
        {
            "id": "MONDO:0010193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010193",
            "name": "WEAVER syndrome; WVS",
            "description": ""
        },
        {
            "id": "MONDO:0010193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010193",
            "name": "WVS",
            "description": ""
        },
        {
            "id": "MONDO:0010193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010193",
            "name": "Weaver-like syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010193",
            "name": "Weaver-Williams syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010193",
            "name": "overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly",
            "description": ""
        },
        {
            "id": "MONDO:0010193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010193",
            "name": "Weaver Smith syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010193",
            "name": "Weaver-Smith syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010193",
            "name": "camptodactyly-overgrowth-unusual facies syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010193",
            "name": "Weaver like syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010193",
            "name": "Weaver Williams syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010193",
            "name": "WEAVER-like syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010193",
            "name": "mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate",
            "description": ""
        },
        {
            "id": "MONDO:0010193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010193",
            "name": "camptodactyly - overgrowth - unusual facies",
            "description": ""
        },
        {
            "id": "MIM:277590",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/277590",
            "name": "Weaver syndrome",
            "description": "Weaver syndrome"
        }
    ]
}