{
    "disease_id": "DOID:0060426",
    "recommended_name": {
        "id": "DOID:0060426",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060426",
        "name": "chromosome 19p13.13 deletion syndrome",
        "description": "A chromosomal deletion syndrome that has_material_basis_in a chromosome 19p13.13 deletion and that is characterized by an unusually large head size, tall stature, and intellectual disability that is usually moderate in severity."
    },
    "synonyms": [
        {
            "id": "MONDO:0013336",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013336",
            "name": "chromosome 19p13.13 deletion syndrome",
            "description": "19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation)."
        },
        {
            "id": "MONDO:0013336",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013336",
            "name": "monosomy 19p13.13",
            "description": ""
        },
        {
            "id": "MONDO:0013336",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013336",
            "name": "Del(19)(p13.13)",
            "description": ""
        },
        {
            "id": "MONDO:0013336",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013336",
            "name": "chromosome 19p13.13 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013336",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013336",
            "name": "chromosome 19P13.13 Duplication syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013336",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013336",
            "name": "19p13.13 microdeletion syndrome",
            "description": ""
        }
    ]
}