{
    "disease_id": "DOID:0060393",
    "recommended_name": {
        "id": "DOID:0060393",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060393",
        "name": "chromosome 15q11.2 deletion syndrome",
        "description": "A chromosomal deletion syndrome that is characterized by intellectual disability, dysmorphic facies, psychiatric illness and autism spectrum disorder, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15."
    },
    "synonyms": [
        {
            "id": "DOID:0060393",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060393",
            "name": "15q11.2 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014294",
            "name": "chromosome 15q11.2 deletion syndrome",
            "description": "15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia)."
        },
        {
            "id": "MONDO:0014294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014294",
            "name": "15q11.2 BP1-BP2 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014294",
            "name": "15q11.2 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014294",
            "name": "Del(15)(q11.2)",
            "description": ""
        },
        {
            "id": "MONDO:0014294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014294",
            "name": "chromosome 15q11.2 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014294",
            "name": "monosomy 15q11.2",
            "description": ""
        },
        {
            "id": "MONDO:0014294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014294",
            "name": "15q11.2 microdeletion",
            "description": ""
        },
        {
            "id": "MONDO:0014294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014294",
            "name": "chromosome 15q11.2 deletion",
            "description": ""
        },
        {
            "id": "MONDO:0014294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014294",
            "name": "chromosome 15q11.2 microdeletion",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060393"
    ],
    "unlinked_id_list": []
}