{
    "disease_id": "DOID:0111000",
    "recommended_name": {
        "id": "DOID:0111000",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111000",
        "name": "Joubert syndrome 5",
        "description": "A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21."
    },
    "synonyms": [
        {
            "id": "DOID:0111000",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111000",
            "name": "JBTS5",
            "description": ""
        },
        {
            "id": "MONDO:0012432",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012432",
            "name": "Joubert syndrome 5",
            "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the CEP290 gene."
        },
        {
            "id": "MONDO:0012432",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012432",
            "name": "CEP290 Joubert syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012432",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012432",
            "name": "JBTS5",
            "description": ""
        },
        {
            "id": "MONDO:0012432",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012432",
            "name": "Joubert syndrome 5",
            "description": ""
        },
        {
            "id": "MONDO:0012432",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012432",
            "name": "Joubert syndrome caused by mutation in CEP290",
            "description": ""
        },
        {
            "id": "MONDO:0012432",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012432",
            "name": "Joubert syndrome type 5",
            "description": ""
        },
        {
            "id": "MIM:610188",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610188",
            "name": "Joubert syndrome 5",
            "description": "Joubert syndrome 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111000"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111000",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111000",
            "categories": []
        },
        {
            "id": "MONDO:0012432",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012432",
            "categories": []
        },
        {
            "id": "MIM:610188",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610188",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AZL6-1",
            "uniprot_ac": "A0A8M3AZL6",
            "uniprot_id": "A0A8M3AZL6_DANRE",
            "refseq_ac": "XP_009296179",
            "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 290 kDa isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 290 kDa isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cep290",
                    "type": "recommended"
                },
                {
                    "name": "cep290",
                    "type": "synonym"
                },
                {
                    "name": "im:7145703",
                    "type": "synonym"
                },
                {
                    "name": "im:7147820",
                    "type": "synonym"
                },
                {
                    "name": "nphp6",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AZL6-1",
            "evidence": [
                {
                    "id": "0111000",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111000"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6A078-1",
            "uniprot_ac": "Q6A078",
            "uniprot_id": "CE290_MOUSE",
            "refseq_ac": "NP_666121",
            "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 290 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Bardet-Biedl syndrome 14 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Cep290",
                    "type": "synonym"
                },
                {
                    "name": "Nephrocystin-6",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 290 kDa isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 290 kDa",
                    "type": "synonym"
                },
                {
                    "name": "nephrocystin-6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cep290",
                    "type": "recommended"
                },
                {
                    "name": "Cep290",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0373",
                    "type": "synonym"
                },
                {
                    "name": "Nphp6",
                    "type": "synonym"
                },
                {
                    "name": "b2b1454Clo",
                    "type": "synonym"
                },
                {
                    "name": "b2b1752Clo",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6A078-1",
            "evidence": [
                {
                    "id": "0111000",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111000"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15078-1",
            "uniprot_ac": "O15078",
            "uniprot_id": "CE290_HUMAN",
            "refseq_ac": "NP_079390",
            "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 290 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Bardet-Biedl syndrome 14 protein",
                    "type": "synonym"
                },
                {
                    "name": "CT87",
                    "type": "synonym"
                },
                {
                    "name": "CTCL tumor antigen se2-2",
                    "type": "synonym"
                },
                {
                    "name": "Cancer/testis antigen 87",
                    "type": "synonym"
                },
                {
                    "name": "Cep290",
                    "type": "synonym"
                },
                {
                    "name": "Meckel syndrome, type 4",
                    "type": "synonym"
                },
                {
                    "name": "Nephrocystin-6",
                    "type": "synonym"
                },
                {
                    "name": "POC3 centriolar protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Tumor antigen se2-2",
                    "type": "synonym"
                },
                {
                    "name": "cancer/testis antigen 87",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein 290kDa",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 290 kDa",
                    "type": "synonym"
                },
                {
                    "name": "monoclonal antibody 3H11 antigen",
                    "type": "synonym"
                },
                {
                    "name": "nephrocytsin-6",
                    "type": "synonym"
                },
                {
                    "name": "prostate cancer antigen T21",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CEP290",
                    "type": "recommended"
                },
                {
                    "name": "3H11Ag",
                    "type": "synonym"
                },
                {
                    "name": "BBS14",
                    "type": "synonym"
                },
                {
                    "name": "CEP290",
                    "type": "synonym"
                },
                {
                    "name": "CT87",
                    "type": "synonym"
                },
                {
                    "name": "JBTS5",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0373",
                    "type": "synonym"
                },
                {
                    "name": "LCA10",
                    "type": "synonym"
                },
                {
                    "name": "MKS4",
                    "type": "synonym"
                },
                {
                    "name": "NPHP6",
                    "type": "synonym"
                },
                {
                    "name": "POC3",
                    "type": "synonym"
                },
                {
                    "name": "SLSN6",
                    "type": "synonym"
                },
                {
                    "name": "rd16",
                    "type": "synonym"
                }
            ],
            "record_id": "O15078-1",
            "evidence": [
                {
                    "id": "610188",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610188"
                },
                {
                    "id": "0111000",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111000"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K715-1",
            "uniprot_ac": "A0A0G2K715",
            "uniprot_id": "A0A0G2K715_RAT",
            "refseq_ac": "NP_001129227",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein 290",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein 290kDa",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 290 kDa isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 290 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cep290",
                    "type": "recommended"
                },
                {
                    "name": "Cep290",
                    "type": "synonym"
                },
                {
                    "name": "RGD1311640",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K715-1",
            "evidence": [
                {
                    "id": "0111000",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111000"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W0M1-1",
            "uniprot_ac": "Q9W0M1",
            "uniprot_id": "CE290_DROME",
            "refseq_ac": "NP_001261227",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein Cep290",
                    "type": "recommended"
                },
                {
                    "name": "CG13889-PB",
                    "type": "synonym"
                },
                {
                    "name": "Cep290-PB",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein 290kDa, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "cep290",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cep290",
                    "type": "recommended"
                },
                {
                    "name": "CEP290",
                    "type": "synonym"
                },
                {
                    "name": "CG13889",
                    "type": "synonym"
                },
                {
                    "name": "Cep290",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13889",
                    "type": "synonym"
                },
                {
                    "name": "Q9W0M1_DROME",
                    "type": "synonym"
                },
                {
                    "name": "cep290",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W0M1-1",
            "evidence": [
                {
                    "id": "0111000",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111000"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111000"
}