{
    "disease_id": "DOID:0060565", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009073", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009073", 
            "name": "Ritscher-Schinzel syndrome 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009073", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009073", 
            "name": "RTSC"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009073", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009073", 
            "name": "Ritscher-Schinzel syndrome caused by mutation in WASHC5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009073", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009073", 
            "name": "Craniocerebellocardiac dysplasia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009073", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009073", 
            "name": "Dandy-Walker-like malformation with Atrioventricular septal defect"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009073", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009073", 
            "name": "3C syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009073", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009073", 
            "name": "Ritscher-Schinzel syndrome 1; RTSC1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009073", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009073", 
            "name": "Ritscher-Schinzel syndrome type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009073", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009073", 
            "name": "RTSC1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009073", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009073", 
            "name": "Ritscher-Schinzel syndrome; RTSC"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009073", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009073", 
            "name": "WASHC5 Ritscher-Schinzel syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060565", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060565", 
            "name": "CCC dysplasia"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060565", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060565", 
            "name": "craniocerebellocardiac dysplasia"
        }, 
        {
            "url": "https://www.omim.org/entry/220210", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:220210", 
            "name": "Ritscher-Schinzel syndrome 1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060565", 
        "description": "A syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism,  ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060565", 
        "name": "Ritscher-Schinzel syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/220210", 
            "id": "220210", 
            "database": "MIM"
        }
    ]
}