{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0060571",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060571",
            "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": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZVM1-1",
            "uniprot_ac": "Q7ZVM1",
            "uniprot_id": "WASC5_DANRE",
            "refseq_ac": "NP_956477",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "WASH complex subunit 5",
                    "type": "recommended"
                },
                {
                    "name": "WASH complex subunit 5",
                    "type": "synonym"
                },
                {
                    "name": "WASH complex subunit strumpellin",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "washc5",
                    "type": "recommended"
                },
                {
                    "name": "strumpellin",
                    "type": "synonym"
                },
                {
                    "name": "washc5",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55908",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZVM1-1",
            "evidence": [
                {
                    "id": "0060571",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060571"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C2E7-1",
            "uniprot_ac": "Q8C2E7",
            "uniprot_id": "WASC5_MOUSE",
            "refseq_ac": "NP_705776",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "WASH complex subunit 5",
                    "type": "recommended"
                },
                {
                    "name": "WASH complex subunit 5",
                    "type": "synonym"
                },
                {
                    "name": "WASH complex subunit strumpellin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Washc5",
                    "type": "recommended"
                },
                {
                    "name": "E430025E21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0196",
                    "type": "synonym"
                },
                {
                    "name": "Washc5",
                    "type": "synonym"
                },
                {
                    "name": "strumpellin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C2E7-1",
            "evidence": [
                {
                    "id": "0060571",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060571"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12768-1",
            "uniprot_ac": "Q12768",
            "uniprot_id": "WASC5_HUMAN",
            "refseq_ac": "NP_055661",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "WASH complex subunit 5",
                    "type": "recommended"
                },
                {
                    "name": "Strumpellin",
                    "type": "synonym"
                },
                {
                    "name": "WASH complex subunit 5 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "WASH complex subunit strumpellin",
                    "type": "synonym"
                },
                {
                    "name": "strumpellin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WASHC5",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0196",
                    "type": "synonym"
                },
                {
                    "name": "RTSC1",
                    "type": "synonym"
                },
                {
                    "name": "RTSC",
                    "type": "synonym"
                },
                {
                    "name": "SPG8",
                    "type": "synonym"
                },
                {
                    "name": "WASHC5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12768-1",
            "evidence": [
                {
                    "id": "220210",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/220210"
                },
                {
                    "id": "0060571",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060571"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AFP0-1",
            "uniprot_ac": "A0A8I6AFP0",
            "uniprot_id": "A0A8I6AFP0_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "WASH complex subunit 5",
                    "type": "recommended"
                },
                {
                    "name": "WASH complex subunit strumpellin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Washc5",
                    "type": "recommended"
                },
                {
                    "name": "RGD1564420",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AFP0-1",
            "evidence": [
                {
                    "id": "0060571",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060571"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VUY8-1",
            "uniprot_ac": "Q9VUY8",
            "uniprot_id": "WASC5_DROME",
            "refseq_ac": "NP_001163454",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "WASH complex subunit homolog 5",
                    "type": "recommended"
                },
                {
                    "name": "CG12272-PB",
                    "type": "synonym"
                },
                {
                    "name": "Strump-PB",
                    "type": "synonym"
                },
                {
                    "name": "WASH complex subunit strumpellin homolog",
                    "type": "synonym"
                },
                {
                    "name": "strumpellin, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Strump",
                    "type": "recommended"
                },
                {
                    "name": "CG12272",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12272",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12272",
                    "type": "synonym"
                },
                {
                    "name": "Strump",
                    "type": "synonym"
                },
                {
                    "name": "p118",
                    "type": "synonym"
                },
                {
                    "name": "strump",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VUY8-1",
            "evidence": [
                {
                    "id": "0060571",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060571"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060571"
}