{
    "disease_id": "DOID:0060430",
    "recommended_name": {
        "id": "DOID:0060430",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060430",
        "name": "chromosome 16p11.2 duplication syndrome",
        "description": "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language."
    },
    "synonyms": [
        {
            "id": "DOID:0060430",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060430",
            "name": "proximal 16p11.2 microduplication syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060430",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060430",
            "name": "proximal dup(16)(p11.2)",
            "description": ""
        },
        {
            "id": "DOID:0060430",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060430",
            "name": "proximal trisomy 16p11.2",
            "description": ""
        },
        {
            "id": "MONDO:0013847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013847",
            "name": "chromosome 16p11.2 duplication syndrome",
            "description": "Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life."
        },
        {
            "id": "MONDO:0013847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013847",
            "name": "16p11.2 duplication",
            "description": ""
        },
        {
            "id": "MONDO:0013847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013847",
            "name": "AUTS14B",
            "description": ""
        },
        {
            "id": "MONDO:0013847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013847",
            "name": "16p11.2 microduplication",
            "description": ""
        },
        {
            "id": "MONDO:0013847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013847",
            "name": "proximal trisomy 16p11.2",
            "description": ""
        },
        {
            "id": "MONDO:0013847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013847",
            "name": "susceptibility to autism, 14B",
            "description": ""
        },
        {
            "id": "MONDO:0013847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013847",
            "name": "autism, susceptibility to, 14B",
            "description": ""
        },
        {
            "id": "MONDO:0013847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013847",
            "name": "chromosome 16p11.2 duplication syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013847",
            "name": "proximal 16p11.2 microduplication syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013847",
            "name": "proximal dup(16)(p11.2)",
            "description": ""
        },
        {
            "id": "MONDO:0013847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013847",
            "name": "16p11.2 duplication syndrome",
            "description": ""
        }
    ]
}