{
    "disease_id": "DOID:0060572",
    "recommended_name": {
        "id": "DOID:0060572",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060572",
        "name": "Ritscher-Schinzel syndrome 2",
        "description": "A Ritscher-Schinzel syndrome that has_material_basis_in mutation in the CCDC22 gene on chromosome Xp11."
    },
    "synonyms": [
        {
            "id": "MONDO:0010499",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010499",
            "name": "Ritscher-Schinzel syndrome 2",
            "description": "Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the CCDC22 gene."
        },
        {
            "id": "MONDO:0010499",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010499",
            "name": "CCDC22 Ritscher-Schinzel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010499",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010499",
            "name": "RTSC2",
            "description": ""
        },
        {
            "id": "MONDO:0010499",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010499",
            "name": "Ritscher-Schinzel syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0010499",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010499",
            "name": "Ritscher-Schinzel syndrome 2, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010499",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010499",
            "name": "Ritscher-Schinzel syndrome caused by mutation in CCDC22",
            "description": ""
        },
        {
            "id": "MONDO:0010499",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010499",
            "name": "Ritscher-Schinzel syndrome type 2",
            "description": ""
        },
        {
            "id": "MIM:300963",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300963",
            "name": "Ritscher-Schinzel syndrome 2",
            "description": "Ritscher-Schinzel syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060572"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060572",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060572",
            "categories": []
        },
        {
            "id": "MONDO:0010499",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010499",
            "categories": []
        },
        {
            "id": "MIM:300963",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300963",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q4V909-1",
            "uniprot_ac": "Q4V909",
            "uniprot_id": "CCD22_DANRE",
            "refseq_ac": "NP_001020656",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil domain-containing protein 22",
                    "type": "recommended"
                },
                {
                    "name": "coiled-coil domain containing 22",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ccdc22",
                    "type": "recommended"
                },
                {
                    "name": "ccdc22",
                    "type": "synonym"
                },
                {
                    "name": "zgc:114058",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4V909-1",
            "evidence": [
                {
                    "id": "0060572",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060572"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JIG7-1",
            "uniprot_ac": "Q9JIG7",
            "uniprot_id": "CCD22_MOUSE",
            "refseq_ac": "NP_613069",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil domain-containing protein 22",
                    "type": "recommended"
                },
                {
                    "name": "coiled-coil domain-containing protein 22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccdc22",
                    "type": "recommended"
                },
                {
                    "name": "Ccdc22",
                    "type": "synonym"
                },
                {
                    "name": "DXImx40e",
                    "type": "synonym"
                },
                {
                    "name": "Ppp1r3f",
                    "type": "synonym"
                },
                {
                    "name": "Sfc22",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JIG7-1",
            "evidence": [
                {
                    "id": "0060572",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060572"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60826-1",
            "uniprot_ac": "O60826",
            "uniprot_id": "CCD22_HUMAN",
            "refseq_ac": "NP_054727",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil domain-containing protein 22",
                    "type": "recommended"
                },
                {
                    "name": "coiled-coil domain containing 22",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CCDC22",
                    "type": "recommended"
                },
                {
                    "name": "CCDC22",
                    "type": "synonym"
                },
                {
                    "name": "CXorf37",
                    "type": "synonym"
                },
                {
                    "name": "JM1",
                    "type": "synonym"
                },
                {
                    "name": "RTSC2",
                    "type": "synonym"
                }
            ],
            "record_id": "O60826-1",
            "evidence": [
                {
                    "id": "300963",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300963"
                },
                {
                    "id": "0060572",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060572"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P86182-1",
            "uniprot_ac": "P86182",
            "uniprot_id": "CCD22_RAT",
            "refseq_ac": "NP_001129309",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil domain-containing protein 22",
                    "type": "recommended"
                },
                {
                    "name": "coiled-coil domain containing 22",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccdc22",
                    "type": "recommended"
                },
                {
                    "name": "Ccdc22",
                    "type": "synonym"
                },
                {
                    "name": "RGD1560910",
                    "type": "synonym"
                }
            ],
            "record_id": "P86182-1",
            "evidence": [
                {
                    "id": "0060572",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060572"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VVB4-1",
            "uniprot_ac": "Q9VVB4",
            "uniprot_id": "CCD22_DROME",
            "refseq_ac": "NP_648929",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil domain-containing protein 22 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG9951-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG9951",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9951",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VVB4-1",
            "evidence": [
                {
                    "id": "0060572",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060572"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060572"
}