{
    "disease_id": "DOID:0111840",
    "recommended_name": {
        "id": "DOID:0111840",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111840",
        "name": "Van Esch-O'Driscoll syndrome",
        "description": "A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in POLA1 on chromosome Xp22.1-p21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111840",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111840",
            "name": "MRXSVEOD",
            "description": ""
        },
        {
            "id": "DOID:0111840",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111840",
            "name": "VEODS",
            "description": ""
        },
        {
            "id": "DOID:0111840",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111840",
            "name": "X-linked intellectual disability, Van Esch type",
            "description": ""
        },
        {
            "id": "DOID:0111840",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111840",
            "name": "X-linked syndromic mental retardation Van Esch-O'Driscoll type",
            "description": ""
        },
        {
            "id": "MIM:301030",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301030",
            "name": "Van Esch-O'Driscoll syndrome",
            "description": "Van Esch-O'Driscoll syndrome"
        }
    ]
}