{
    "disease_id": "DOID:0110359",
    "recommended_name": {
        "id": "DOID:0110359",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110359",
        "name": "retinitis pigmentosa 67",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the NEK2 gene on chromosome 1q32."
    },
    "synonyms": [
        {
            "id": "DOID:0110359",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110359",
            "name": "RP67",
            "description": ""
        },
        {
            "id": "MONDO:0014256",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014256",
            "name": "retinitis pigmentosa 67",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NEK2 gene."
        },
        {
            "id": "MONDO:0014256",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014256",
            "name": "NEK2 retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0014256",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014256",
            "name": "RP67",
            "description": ""
        },
        {
            "id": "MONDO:0014256",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014256",
            "name": "retinitis pigmentosa 67",
            "description": ""
        },
        {
            "id": "MONDO:0014256",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014256",
            "name": "retinitis pigmentosa caused by mutation in NEK2",
            "description": ""
        },
        {
            "id": "MONDO:0014256",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014256",
            "name": "retinitis pigmentosa type 67",
            "description": ""
        },
        {
            "id": "MIM:615565",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615565",
            "name": "Retinitis pigmentosa 67",
            "description": "Retinitis pigmentosa 67"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110359"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110359",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110359",
            "categories": []
        },
        {
            "id": "MONDO:0014256",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014256",
            "categories": []
        },
        {
            "id": "MIM:615565",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615565",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O35942-1",
            "uniprot_ac": "O35942",
            "uniprot_id": "NEK2_MOUSE",
            "refseq_ac": "NP_035022",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase Nek2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "NIMA - related expressed kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "NIMA-related expressed kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "NIMA-related kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "Nek2 kinase",
                    "type": "synonym"
                },
                {
                    "name": "Never in mitosis A-related kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "NimA-related protein kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "never in mitosis A-related kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "nimA-related protein kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nek2",
                    "type": "recommended"
                },
                {
                    "name": "Nek2",
                    "type": "synonym"
                }
            ],
            "record_id": "O35942-1",
            "evidence": [
                {
                    "id": "0110359",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110359"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51955-1",
            "uniprot_ac": "P51955",
            "uniprot_id": "NEK2_HUMAN",
            "refseq_ac": "NP_001191111",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase Nek2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "HSPK 21",
                    "type": "synonym"
                },
                {
                    "name": "NIMA (never in mitosis gene a)-related kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "Never in mitosis A-related kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "NimA-like protein kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "NimA-related protein kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "nimA-like protein kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "nimA-related protein kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 111",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek2 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NEK2",
                    "type": "recommended"
                },
                {
                    "name": "HsPK21",
                    "type": "synonym"
                },
                {
                    "name": "NEK2A",
                    "type": "synonym"
                },
                {
                    "name": "NEK2",
                    "type": "synonym"
                },
                {
                    "name": "NLK1",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R111",
                    "type": "synonym"
                },
                {
                    "name": "RP67",
                    "type": "synonym"
                }
            ],
            "record_id": "P51955-1",
            "evidence": [
                {
                    "id": "615565",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615565"
                },
                {
                    "id": "0110359",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110359"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22209-1",
            "uniprot_ac": "P22209",
            "uniprot_id": "KIN3_YEAST",
            "refseq_ac": "NP_009410",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase KIN3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine protein kinase KIN3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KIN3",
                    "type": "recommended"
                },
                {
                    "name": "FUN52",
                    "type": "synonym"
                },
                {
                    "name": "KIN3",
                    "type": "synonym"
                },
                {
                    "name": "NPK1",
                    "type": "synonym"
                }
            ],
            "record_id": "P22209-1",
            "evidence": [
                {
                    "id": "0110359",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110359"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AHQ6-1",
            "uniprot_ac": "A0A8I6AHQ6",
            "uniprot_id": "A0A8I6AHQ6_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": "Serine/threonine-protein kinase Nek2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Never in mitosis A-related kinase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nek2l1",
                    "type": "recommended"
                },
                {
                    "name": "Nek2",
                    "type": "recommended"
                },
                {
                    "name": "Nek2l1",
                    "type": "synonym"
                },
                {
                    "name": "Nek2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AHQ6-1",
            "evidence": [
                {
                    "id": "0110359",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110359"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W3N8-1",
            "uniprot_ac": "Q9W3N8",
            "uniprot_id": "Q9W3N8_DROME",
            "refseq_ac": "NP_572415",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "CG17256-PA",
                    "type": "synonym"
                },
                {
                    "name": "Nek2-PA",
                    "type": "synonym"
                },
                {
                    "name": "Nek2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nek2",
                    "type": "recommended"
                },
                {
                    "name": "CG17256",
                    "type": "synonym"
                },
                {
                    "name": "Dm Nek2",
                    "type": "synonym"
                },
                {
                    "name": "DmNek2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17256",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17256",
                    "type": "synonym"
                },
                {
                    "name": "NEK2",
                    "type": "synonym"
                },
                {
                    "name": "Nek2",
                    "type": "synonym"
                },
                {
                    "name": "dNek2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W3N8-1",
            "evidence": [
                {
                    "id": "0110359",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110359"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110359"
}