{
    "disease_id": "DOID:0060571",
    "recommended_name": {
        "id": "DOID:0060571",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060571",
        "name": "Ritscher-Schinzel syndrome 1",
        "description": "A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24."
    },
    "synonyms": [
        {
            "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_list": [
        "DOID:0060571"
    ],
    "unlinked_id_list": []
}