{
    "disease_id": "DOID:0060392",
    "recommended_name": {
        "id": "DOID:0060392",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060392",
        "name": "chromosome 14q11-q22 deletion syndrome",
        "description": "A chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, has_material_basis_in isolated cases of partial deletion of the long arm of chromosome 14."
    },
    "synonyms": [
        {
            "id": "DOID:0060392",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060392",
            "name": "14q11.2 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013272",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013272",
            "name": "chromosome 14q11-q22 deletion syndrome",
            "description": "14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism."
        },
        {
            "id": "MONDO:0013272",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013272",
            "name": "14q11.2 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013272",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013272",
            "name": "Del(14)(q11.2)",
            "description": ""
        },
        {
            "id": "MONDO:0013272",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013272",
            "name": "monosomy 14q11.2",
            "description": ""
        },
        {
            "id": "MONDO:0013272",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013272",
            "name": "chromosome 14q11-q22 deletion syndrome",
            "description": ""
        }
    ]
}