{
    "disease_id": "DOID:0061280",
    "recommended_name": {
        "id": "DOID:0061280",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061280",
        "name": "Senior-Loken syndrome 6",
        "description": "A Senior-Loken syndrome characterized by the association of nephronophthisis resulting in end-stage renal disease in the second decade of life with retinal degeneration that has_material_basis_in homozygous mutation in the NPHP6 gene on chromosome 12q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0012433",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012433",
            "name": "Senior-Loken syndrome 6",
            "description": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene."
        },
        {
            "id": "MONDO:0012433",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012433",
            "name": "CEP290 Senior-Loken syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012433",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012433",
            "name": "Senior-Loken syndrome 6",
            "description": ""
        },
        {
            "id": "MONDO:0012433",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012433",
            "name": "Senior-Loken syndrome caused by mutation in CEP290",
            "description": ""
        },
        {
            "id": "MONDO:0012433",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012433",
            "name": "Senior-Loken syndrome type 6",
            "description": ""
        },
        {
            "id": "MONDO:0012433",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012433",
            "name": "SLSN6",
            "description": ""
        },
        {
            "id": "MIM:610189",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610189",
            "name": "Senior-Loken syndrome 6",
            "description": "Senior-Loken syndrome 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061280"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061280",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061280",
            "categories": []
        },
        {
            "id": "MONDO:0012433",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012433",
            "categories": []
        },
        {
            "id": "MIM:610189",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610189",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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": "610189",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610189"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061280"
}