{
    "disease_id": "DOID:0060398",
    "recommended_name": {
        "id": "DOID:0060398",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060398",
        "name": "chromosome 16p11.2 deletion syndrome, 220-kb",
        "description": "A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 (chr16:28.73-28.95 Mb) encompassing approximately 9 genes, including the SH2B1 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0060398",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060398",
            "name": "distal 16p11.2 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013267",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013267",
            "name": "distal 16p11.2 microdeletion syndrome",
            "description": "Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated."
        },
        {
            "id": "MONDO:0013267",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013267",
            "name": "body mass index QTL16",
            "description": ""
        },
        {
            "id": "MONDO:0013267",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013267",
            "name": "chromosome 16p11.2 deletion syndrome, type 220kb",
            "description": ""
        },
        {
            "id": "MONDO:0013267",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013267",
            "name": "distal 16p11.2 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013267",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013267",
            "name": "distal del(16)(p11.2)",
            "description": ""
        },
        {
            "id": "MONDO:0013267",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013267",
            "name": "distal monosomy 16p11.2",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060398"
    ],
    "unlinked_id_list": []
}