{
    "disease_id": "DOID:0060572", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010499", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010499", 
            "name": "Ritscher-Schinzel syndrome type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010499", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010499", 
            "name": "RTSC2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010499", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010499", 
            "name": "CCDC22 Ritscher-Schinzel syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010499", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010499", 
            "name": "Ritscher-Schinzel syndrome 2; RTSC2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010499", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010499", 
            "name": "Ritscher-Schinzel syndrome caused by mutation in CCDC22"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060572", 
        "description": "A Ritscher-Schinzel syndrome that has_material_basis_in mutation in the CCDC22 gene on chromosome Xp11.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060572", 
        "name": "Ritscher-Schinzel syndrome 2"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060572#disease-associations", 
            "id": "0060572", 
            "database": "Alliance of Genome Resources"
        }
    ]
}