{
    "disease_id": "DOID:0060565",
    "recommended_name": {
        "id": "DOID:0060565",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060565",
        "name": "Ritscher-Schinzel syndrome",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0060565",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060565",
            "name": "CCC dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0060565",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060565",
            "name": "craniocerebellocardiac dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009073",
            "name": "Ritscher-Schinzel syndrome 1",
            "description": "Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the WASHC5 gene."
        },
        {
            "id": "MONDO:0009073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009073",
            "name": "Ritscher-Schinzel syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0009073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009073",
            "name": "Ritscher-Schinzel syndrome caused by mutation in WASHC5",
            "description": ""
        },
        {
            "id": "MONDO:0009073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009073",
            "name": "Ritscher-Schinzel syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009073",
            "name": "WASHC5 Ritscher-Schinzel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009073",
            "name": "RTSC",
            "description": ""
        },
        {
            "id": "MONDO:0009073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009073",
            "name": "RTSC1",
            "description": ""
        },
        {
            "id": "MONDO:0009073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009073",
            "name": "Ritscher-Schinzel syndrome",
            "description": ""
        },
        {
            "id": "MIM:220210",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/220210",
            "name": "Ritscher-Schinzel syndrome 1",
            "description": "Ritscher-Schinzel syndrome 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0060571",
            "label": "Ritscher-Schinzel syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060572",
            "label": "Ritscher-Schinzel syndrome 2",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0060571",
        "DOID:0060565",
        "DOID:0060572"
    ],
    "unlinked_id_list": []
}