{
    "disease_id": "DOID:0111840", 
    "synonyms": [
        {
            "url": "http://disease-ontology.org/term/DOID:0111840", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111840", 
            "name": "MRXSVEOD"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111840", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111840", 
            "name": "VEODS"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111840", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111840", 
            "name": "X-linked intellectual disability, Van Esch type"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111840", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111840", 
            "name": "X-linked syndromic mental retardation Van Esch-O'Driscoll type"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111840", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111840", 
        "name": "Van Esch-O'Driscoll syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111840#disease-associations", 
            "id": "0111840", 
            "database": "Alliance of Genome Resources"
        }
    ]
}