{
    "disease_id": "DOID:0111125",
    "recommended_name": {
        "id": "DOID:0111125",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111125",
        "name": "nephronophthisis 18",
        "description": "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22."
    },
    "synonyms": [
        {
            "id": "DOID:0111125",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111125",
            "name": "NPHP18",
            "description": ""
        },
        {
            "id": "MONDO:0014374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014374",
            "name": "nephronophthisis 18",
            "description": "Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene."
        },
        {
            "id": "MONDO:0014374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014374",
            "name": "CEP83 nephronophthisis (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0014374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014374",
            "name": "NPHP18",
            "description": ""
        },
        {
            "id": "MONDO:0014374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014374",
            "name": "nephronophthisis (disease) caused by mutation in CEP83",
            "description": ""
        },
        {
            "id": "MONDO:0014374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014374",
            "name": "nephronophthisis 18",
            "description": ""
        },
        {
            "id": "MONDO:0014374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014374",
            "name": "nephronophthisis type 18",
            "description": ""
        },
        {
            "id": "MIM:615862",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615862",
            "name": "Nephronophthisis 18",
            "description": "Nephronophthisis 18"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111125"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111125",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111125",
            "categories": []
        },
        {
            "id": "MONDO:0014374",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014374",
            "categories": []
        },
        {
            "id": "MIM:615862",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615862",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IVY9-1",
            "uniprot_ac": "A0A0R4IVY9",
            "uniprot_id": "A0A0R4IVY9_DANRE",
            "refseq_ac": "NP_001340860",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein of 83 kDa",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 83 kDa",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 41",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 41",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cep83",
                    "type": "recommended"
                },
                {
                    "name": "ccdc41",
                    "type": "synonym"
                },
                {
                    "name": "cep83",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IVY9-1",
            "evidence": [
                {
                    "id": "0111125",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111125"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D5R3-1",
            "uniprot_ac": "Q9D5R3",
            "uniprot_id": "CEP83_MOUSE",
            "refseq_ac": "NP_084128",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein of 83 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Cep83",
                    "type": "synonym"
                },
                {
                    "name": "Coiled-coil domain-containing protein 41",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 83 kDa",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 41",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 41",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cep83",
                    "type": "recommended"
                },
                {
                    "name": "2600001G24Rik",
                    "type": "synonym"
                },
                {
                    "name": "4921537D05Rik",
                    "type": "synonym"
                },
                {
                    "name": "5730513H21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ccdc41",
                    "type": "synonym"
                },
                {
                    "name": "Cep83",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D5R3-1",
            "evidence": [
                {
                    "id": "0111125",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111125"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y592-1",
            "uniprot_ac": "Q9Y592",
            "uniprot_id": "CEP83_HUMAN",
            "refseq_ac": "NP_001035858",
            "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 83 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Cep83",
                    "type": "synonym"
                },
                {
                    "name": "Coiled-coil domain-containing protein 41",
                    "type": "synonym"
                },
                {
                    "name": "NY-REN-58 antigen",
                    "type": "synonym"
                },
                {
                    "name": "Renal carcinoma antigen NY-REN-58",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 83 kDa isoform a",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 83 kDa",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 41",
                    "type": "synonym"
                },
                {
                    "name": "renal carcinoma antigen NY-REN-58",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CEP83",
                    "type": "recommended"
                },
                {
                    "name": "CCDC41",
                    "type": "synonym"
                },
                {
                    "name": "CEP83",
                    "type": "synonym"
                },
                {
                    "name": "NPHP18",
                    "type": "synonym"
                },
                {
                    "name": "NY-REN-58",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y592-1",
            "evidence": [
                {
                    "id": "615862",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615862"
                },
                {
                    "id": "0111125",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111125"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q66H89-1",
            "uniprot_ac": "Q66H89",
            "uniprot_id": "CEP83_RAT",
            "refseq_ac": "NP_001014288",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein of 83 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Cep83",
                    "type": "synonym"
                },
                {
                    "name": "Coiled-coil domain-containing protein 41",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 83 kDa",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 41",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 41",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cep83",
                    "type": "recommended"
                },
                {
                    "name": "Ccdc41",
                    "type": "synonym"
                },
                {
                    "name": "Cep83",
                    "type": "synonym"
                },
                {
                    "name": "RGD1359593",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66H89-1",
            "evidence": [
                {
                    "id": "0111125",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111125"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111125"
}