{
    "disease_id": "DOID:0080926",
    "recommended_name": {
        "id": "DOID:0080926",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080926",
        "name": "7q11.23 duplication syndrome",
        "description": "A chromosomal duplication syndrome that is characterized by motor, speech and language delay, behavior problems, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), facial dysmorphism, seizures, brain abnormalities, and heart defects such as enlargement of the blood vessel that carries blood from the heart to the rest of the body (aortic dilatation) and that has_material_basis_in an extra copy of a region of the long arm of chromosome 7."
    },
    "synonyms": [
        {
            "id": "DOID:0080926",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080926",
            "name": "7q11.23 microduplication syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080926",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080926",
            "name": "William-Beuren region duplication syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080926",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080926",
            "name": "chromosome 7q11.23 duplication syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012342",
            "name": "7q11.23 microduplication syndrome",
            "description": "7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported."
        },
        {
            "id": "MONDO:0012342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012342",
            "name": "dup(7)(q11.23)",
            "description": ""
        },
        {
            "id": "MONDO:0012342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012342",
            "name": "trisomy 7q11.23",
            "description": ""
        },
        {
            "id": "MONDO:0012342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012342",
            "name": "7q11.23 duplication syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012342",
            "name": "Somerville-Van Der Aa syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012342",
            "name": "Wbs Duplication syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012342",
            "name": "Wbs triplication syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012342",
            "name": "Williams-Beuren region DUPLICATION syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012342",
            "name": "chromosome 7Q11.23 Duplication syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012342",
            "name": "chromosome 7Q11.23 triplication syndrome",
            "description": ""
        }
    ]
}