{
    "disease_id": "DOID:0060425",
    "recommended_name": {
        "id": "DOID:0060425",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060425",
        "name": "chromosome 8q21.11 deletion syndrome",
        "description": "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 8q21.11 region and that is characterized by intellectual disability and common facial dysmorphic features."
    },
    "synonyms": [
        {
            "id": "DOID:0060425",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060425",
            "name": "8q21.11 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013646",
            "name": "chromosome 8q21.11 deletion syndrome",
            "description": "8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies."
        },
        {
            "id": "MONDO:0013646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013646",
            "name": "8q21.11 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013646",
            "name": "deletion 8q21.11",
            "description": ""
        },
        {
            "id": "MONDO:0013646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013646",
            "name": "chromosome 8q21.11 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013646",
            "name": "monosomy 8q21.11",
            "description": ""
        },
        {
            "id": "MONDO:0013646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013646",
            "name": "Del(8)(q21.11)",
            "description": ""
        }
    ]
}