{
    "disease_id": "DOID:0060421",
    "recommended_name": {
        "id": "DOID:0060421",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060421",
        "name": "chromosome 5q12 deletion syndrome",
        "description": "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 5q12 region."
    },
    "synonyms": [
        {
            "id": "MONDO:0014298",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014298",
            "name": "chromosome 5q12 deletion syndrome",
            "description": "PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin."
        },
        {
            "id": "MONDO:0014298",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014298",
            "name": "chromosome 5q12 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014298",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014298",
            "name": "PDE4D haploinsufficiency syndrome",
            "description": ""
        }
    ]
}