{
    "disease_id": "DOID:0111123",
    "recommended_name": {
        "id": "DOID:0111123",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111123",
        "name": "nephronophthisis 15",
        "description": "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP164 gene on chromosome 11q."
    },
    "synonyms": [
        {
            "id": "DOID:0111123",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111123",
            "name": "NPHP15",
            "description": ""
        },
        {
            "id": "MONDO:0013917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013917",
            "name": "nephronophthisis 15",
            "description": "Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene."
        },
        {
            "id": "MONDO:0013917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013917",
            "name": "CEP164 nephronophthisis (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0013917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013917",
            "name": "NPHP15",
            "description": ""
        },
        {
            "id": "MONDO:0013917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013917",
            "name": "nephronophthisis (disease) caused by mutation in CEP164",
            "description": ""
        },
        {
            "id": "MONDO:0013917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013917",
            "name": "nephronophthisis 15",
            "description": ""
        },
        {
            "id": "MONDO:0013917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013917",
            "name": "nephronophthisis type 15",
            "description": ""
        },
        {
            "id": "MIM:614845",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614845",
            "name": "Nephronophthisis 15",
            "description": "Nephronophthisis 15"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111123"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111123",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111123",
            "categories": []
        },
        {
            "id": "MONDO:0013917",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013917",
            "categories": []
        },
        {
            "id": "MIM:614845",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614845",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5DU05-1",
            "uniprot_ac": "Q5DU05",
            "uniprot_id": "CE164_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein of 164 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Cep164",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cep164",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa1052",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5DU05-1",
            "evidence": [
                {
                    "id": "0111123",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111123"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UPV0-1",
            "uniprot_ac": "Q9UPV0",
            "uniprot_id": "CE164_HUMAN",
            "refseq_ac": "NP_001258862",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein of 164 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Cep164",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein 164kDa",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 164 kDa isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CEP164",
                    "type": "recommended"
                },
                {
                    "name": "CEP164",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1052",
                    "type": "synonym"
                },
                {
                    "name": "NPHP15",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UPV0-1",
            "evidence": [
                {
                    "id": "614845",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614845"
                },
                {
                    "id": "0111123",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111123"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0R9A9-1",
            "uniprot_ac": "M0R9A9",
            "uniprot_id": "M0R9A9_RAT",
            "refseq_ac": "XP_038938279",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein of 164 kDa",
                    "type": "recommended"
                },
                {
                    "name": "centrosomal protein of 164 kDa isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cep164",
                    "type": "recommended"
                },
                {
                    "name": "Cep164",
                    "type": "synonym"
                },
                {
                    "name": "RGD1560988",
                    "type": "synonym"
                },
                {
                    "name": "RGD1561243",
                    "type": "synonym"
                }
            ],
            "record_id": "M0R9A9-1",
            "evidence": [
                {
                    "id": "0111123",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111123"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXK9-1",
            "uniprot_ac": "Q9VXK9",
            "uniprot_id": "Q9VXK9_DROME",
            "refseq_ac": "NP_001285312",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG9170-PC",
                    "type": "synonym"
                },
                {
                    "name": "Centrosomal protein 164, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Centrosomal protein 164, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Centrosomal protein 164, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Cep164-PC",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein 164, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cep164",
                    "type": "recommended"
                },
                {
                    "name": "CEP164",
                    "type": "synonym"
                },
                {
                    "name": "CG9170",
                    "type": "synonym"
                },
                {
                    "name": "Cep164",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9170",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9170",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0140519.214",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VXK9-1",
            "evidence": [
                {
                    "id": "0111123",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111123"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111123"
}