{
    "disease_id": "DOID:0060403",
    "recommended_name": {
        "id": "DOID:0060403",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060403",
        "name": "chromosome 17q11.2 deletion syndrome",
        "description": "A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0060403",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060403",
            "name": "17q11 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060403",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060403",
            "name": "NF1 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060403",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060403",
            "name": "Van Asperen syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060403",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060403",
            "name": "neurofibromatosis type 1 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013357",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013357",
            "name": "chromosome 17q11.2 deletion syndrome, 1.4Mb",
            "description": "17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas."
        },
        {
            "id": "MONDO:0013357",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013357",
            "name": "chromosome 17q11.2 deletion syndrome, 1.4-MB",
            "description": ""
        },
        {
            "id": "MONDO:0013357",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013357",
            "name": "chromosome 17q11.2 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013357",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013357",
            "name": "17q11 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013357",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013357",
            "name": "neurofibromatosis 1 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013357",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013357",
            "name": "Van Asperen syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013357",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013357",
            "name": "Del(17)(q11)",
            "description": ""
        },
        {
            "id": "MONDO:0013357",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013357",
            "name": "NF1 microduplication syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013357",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013357",
            "name": "NF1 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013357",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013357",
            "name": "monosomy 17q11",
            "description": ""
        },
        {
            "id": "MONDO:0013357",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013357",
            "name": "neurofibromatosis type 1 microdeletion syndrome",
            "description": ""
        }
    ]
}