{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0060565",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060565",
            "categories": []
        },
        {
            "id": "MONDO:0009073",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009073",
            "categories": []
        },
        {
            "id": "MIM:220210",
            "database": "MIM",
            "url": "https://www.omim.org/entry/220210",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "A4VCH4",
            "uniprot_id": "VP35L_DANRE",
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                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                    "type": "recommended"
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                },
                {
                    "name": "zgc:163107",
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                }
            ],
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                }
            ]
        },
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Dihydropyrimidinase-related protein 5",
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                }
            ],
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                    "type": "recommended"
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                    "name": "9030624J02Rik",
                    "type": "synonym"
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            ],
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                {
                    "id": "0060565",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060565"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12768-1",
            "uniprot_ac": "Q12768",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "WASH complex subunit 5",
                    "type": "recommended"
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                    "type": "synonym"
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                {
                    "name": "WASH complex subunit 5 isoform 1",
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                },
                {
                    "name": "WASH complex subunit strumpellin",
                    "type": "synonym"
                },
                {
                    "name": "strumpellin",
                    "type": "synonym"
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            ],
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                    "name": "WASHC5",
                    "type": "recommended"
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                {
                    "name": "KIAA0196",
                    "type": "synonym"
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                {
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                    "type": "synonym"
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                {
                    "name": "RTSC",
                    "type": "synonym"
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                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                    "name": "Allantoinase",
                    "type": "recommended"
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                },
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                    "name": "allantoinase",
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                    "name": "Rattus norvegicus",
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            ],
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                    "name": "Dihydropyrimidinase-related protein 5",
                    "type": "recommended"
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                {
                    "name": "UNC33-like phosphoprotein 6",
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                    "name": "Dpysl5",
                    "type": "recommended"
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                },
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                    "id": "0060565",
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                {
                    "name": "dihydropyrimidinase-related protein 5",
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            ],
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                {
                    "name": "CRMP-5",
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                    "name": "CV2",
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                {
                    "name": "DPYSL5",
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                {
                    "name": "RTSC4",
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                {
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                {
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                    "id": "0060565",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060565"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060565"
}