{
    "disease_id": "DOID:0110410",
    "recommended_name": {
        "id": "DOID:0110410",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110410",
        "name": "retinitis pigmentosa 69",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the KIZ gene on chromosome 20p11."
    },
    "synonyms": [
        {
            "id": "DOID:0110410",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110410",
            "name": "RP69",
            "description": ""
        },
        {
            "id": "MONDO:0014345",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014345",
            "name": "retinitis pigmentosa 69",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the KIZ gene."
        },
        {
            "id": "MONDO:0014345",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014345",
            "name": "KIZ retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0014345",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014345",
            "name": "RP69",
            "description": ""
        },
        {
            "id": "MONDO:0014345",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014345",
            "name": "retinitis pigmentosa 69",
            "description": ""
        },
        {
            "id": "MONDO:0014345",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014345",
            "name": "retinitis pigmentosa caused by mutation in KIZ",
            "description": ""
        },
        {
            "id": "MONDO:0014345",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014345",
            "name": "retinitis pigmentosa type 69",
            "description": ""
        },
        {
            "id": "MIM:615780",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615780",
            "name": "Retinitis pigmentosa 69",
            "description": "Retinitis pigmentosa 69"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110410"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110410",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110410",
            "categories": []
        },
        {
            "id": "MONDO:0014345",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014345",
            "categories": []
        },
        {
            "id": "MIM:615780",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615780",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A5D8S0-1",
            "uniprot_ac": "A5D8S0",
            "uniprot_id": "KIZ_DANRE",
            "refseq_ac": "NP_001091860",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein kizuna",
                    "type": "recommended"
                },
                {
                    "name": "Polo-like kinase 1 substrate 1",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein kizuna",
                    "type": "synonym"
                },
                {
                    "name": "polo-like kinase 1 substrate 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kiz",
                    "type": "recommended"
                },
                {
                    "name": "kiz",
                    "type": "synonym"
                },
                {
                    "name": "plk1s1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:162576",
                    "type": "synonym"
                }
            ],
            "record_id": "A5D8S0-1",
            "evidence": [
                {
                    "id": "0110410",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110410"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3UXL4-1",
            "uniprot_ac": "Q3UXL4",
            "uniprot_id": "KIZ_MOUSE",
            "refseq_ac": "NP_001028470",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein kizuna",
                    "type": "recommended"
                },
                {
                    "name": "Polo-like kinase 1 substrate 1",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein kizuna",
                    "type": "synonym"
                },
                {
                    "name": "polo-like kinase 1 substrate 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kiz",
                    "type": "recommended"
                },
                {
                    "name": "Gm114",
                    "type": "synonym"
                },
                {
                    "name": "Kiz",
                    "type": "synonym"
                },
                {
                    "name": "Ncrna00153",
                    "type": "synonym"
                },
                {
                    "name": "Plk1s1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UXL4-1",
            "evidence": [
                {
                    "id": "0110410",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110410"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2M2Z5-1",
            "uniprot_ac": "Q2M2Z5",
            "uniprot_id": "KIZ_HUMAN",
            "refseq_ac": "NP_001156494",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein kizuna",
                    "type": "recommended"
                },
                {
                    "name": "Polo-like kinase 1 substrate 1",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein kizuna isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein kizuna",
                    "type": "synonym"
                },
                {
                    "name": "polo-like kinase 1 substrate 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KIZ",
                    "type": "recommended"
                },
                {
                    "name": "C20orf19",
                    "type": "synonym"
                },
                {
                    "name": "HT013",
                    "type": "synonym"
                },
                {
                    "name": "KIZ",
                    "type": "synonym"
                },
                {
                    "name": "Kizuna",
                    "type": "synonym"
                },
                {
                    "name": "NCRNA00153",
                    "type": "synonym"
                },
                {
                    "name": "PLK1S1",
                    "type": "synonym"
                },
                {
                    "name": "RP69",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2M2Z5-1",
            "evidence": [
                {
                    "id": "615780",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615780"
                },
                {
                    "id": "0110410",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110410"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LQZ5-1",
            "uniprot_ac": "A0ABK0LQZ5",
            "uniprot_id": "A0ABK0LQZ5_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": "Centrosomal protein kizuna",
                    "type": "recommended"
                },
                {
                    "name": "Polo-like kinase 1 substrate 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kiz",
                    "type": "recommended"
                },
                {
                    "name": "Plk1s1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LQZ5-1",
            "evidence": [
                {
                    "id": "0110410",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110410"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110410"
}