{
    "disease_id": "DOID:0060411",
    "recommended_name": {
        "id": "DOID:0060411",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060411",
        "name": "chromosome 1q21.1 deletion syndrome",
        "description": "A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems."
    },
    "synonyms": [
        {
            "id": "DOID:0060411",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060411",
            "name": "1q21.1 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012914",
            "name": "chromosome 1q21.1 deletion syndrome",
            "description": "1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome."
        },
        {
            "id": "MONDO:0012914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012914",
            "name": "1q21.1 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012914",
            "name": "1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders)",
            "description": ""
        },
        {
            "id": "MONDO:0012914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012914",
            "name": "Del(1)(q21)",
            "description": ""
        },
        {
            "id": "MONDO:0012914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012914",
            "name": "chromosome 1q21.1 deletion syndrome, isolated cases",
            "description": ""
        },
        {
            "id": "MONDO:0012914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012914",
            "name": "monosomy 1q21.1",
            "description": ""
        },
        {
            "id": "MONDO:0012914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012914",
            "name": "1q21.1 microdeletion",
            "description": ""
        },
        {
            "id": "MONDO:0012914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012914",
            "name": "chromosome 1q21.1 microdeletion syndrome",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060411"
    ],
    "unlinked_id_list": []
}
