{
    "disease_id": "DOID:0061120",
    "recommended_name": {
        "id": "DOID:0061120",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061120",
        "name": "autosomal dominant tubulointerstitial kidney disease 5",
        "description": "An autosomal dominant tubulointerstitial kidney disease characterized by the onset of progressive chronic renal disease in the first decades of life that has_material_basis_in heterozygous mutation in the SEC61A1 gene on chromosome 3q21."
    },
    "synonyms": [
        {
            "id": "DOID:0061120",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061120",
            "name": "familial juvenile hyperuricemic nephropathy 4",
            "description": ""
        },
        {
            "id": "MONDO:0014891",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014891",
            "name": "hyperuricemic nephropathy, familial juvenile type 4",
            "description": "Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene."
        },
        {
            "id": "MONDO:0014891",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014891",
            "name": "ADTKD-SEC61A1",
            "description": ""
        },
        {
            "id": "MONDO:0014891",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014891",
            "name": "HNFJ4",
            "description": ""
        },
        {
            "id": "MONDO:0014891",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014891",
            "name": "SEC61A1 familial juvenile hyperuricemic nephropathy",
            "description": ""
        },
        {
            "id": "MONDO:0014891",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014891",
            "name": "SEC61A1-related autosomal dominant tubulointerstitial kidney disease",
            "description": ""
        },
        {
            "id": "MONDO:0014891",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014891",
            "name": "familial juvenile hyperuricemic nephropathy caused by mutation in SEC61A1",
            "description": ""
        },
        {
            "id": "MONDO:0014891",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014891",
            "name": "hyperuricemic nephropathy, familial juvenile, 4",
            "description": ""
        },
        {
            "id": "MONDO:0014891",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014891",
            "name": "hyperuricemic nephropathy, familial juvenile, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0014891",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014891",
            "name": "tubulointerstitial kidney disease, autosomal dominant, 5",
            "description": ""
        },
        {
            "id": "MIM:617056",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617056",
            "name": "Tubulointerstitial kidney disease, autosomal dominant 5",
            "description": "Tubulointerstitial kidney disease, autosomal dominant 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061120"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061120",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061120",
            "categories": []
        },
        {
            "id": "MONDO:0014891",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014891",
            "categories": []
        },
        {
            "id": "MIM:617056",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617056",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q90YL4-1",
            "uniprot_ac": "Q90YL4",
            "uniprot_id": "S61A2_DANRE",
            "refseq_ac": "NP_963871",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein transport protein Sec61 subunit alpha-like 2",
                    "type": "recommended"
                },
                {
                    "name": "SEC61 translocon alpha 1 subunit, like",
                    "type": "synonym"
                },
                {
                    "name": "SEC61 translocon subunit alpha 1, like",
                    "type": "synonym"
                },
                {
                    "name": "SEC61, beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "Sec61 alpha like 2",
                    "type": "synonym"
                },
                {
                    "name": "protein transport protein Sec61 subunit alpha-like 2",
                    "type": "synonym"
                },
                {
                    "name": "transport protein Sec61 subunit alpha like 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sec61al2",
                    "type": "recommended"
                },
                {
                    "name": "cb413",
                    "type": "synonym"
                },
                {
                    "name": "sec61a1b",
                    "type": "synonym"
                },
                {
                    "name": "sec61a1l",
                    "type": "synonym"
                },
                {
                    "name": "sec61ab",
                    "type": "synonym"
                },
                {
                    "name": "sec61al2",
                    "type": "synonym"
                },
                {
                    "name": "sec61b",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb36f05",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb36f12",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb37d04",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi26f11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q90YL4-1",
            "evidence": [
                {
                    "id": "0061120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061120"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q90ZM2-1",
            "uniprot_ac": "Q90ZM2",
            "uniprot_id": "S61A1_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein transport protein Sec61 subunit alpha-like 1",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "sec61al1",
                    "type": "recommended"
                },
                {
                    "name": "sec61aa",
                    "type": "synonym"
                },
                {
                    "name": "sec61a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q90ZM2-1",
            "evidence": [
                {
                    "id": "0061120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061120"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61620-1",
            "uniprot_ac": "P61620",
            "uniprot_id": "S61A1_MOUSE",
            "refseq_ac": "NP_058602",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein transport protein Sec61 subunit alpha isoform 1",
                    "type": "recommended"
                },
                {
                    "name": "SEC61, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "Sec61 alpha 1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "Sec61 alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "protein transport protein Sec61 subunit alpha isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein transport protein Sec61 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sec61 alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "transport protein sec61 alpha subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sec61a1",
                    "type": "recommended"
                },
                {
                    "name": "Sec61a1",
                    "type": "synonym"
                },
                {
                    "name": "Sec61a",
                    "type": "synonym"
                }
            ],
            "record_id": "P61620-1",
            "evidence": [
                {
                    "id": "0061120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061120"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61619-1",
            "uniprot_ac": "P61619",
            "uniprot_id": "S61A1_HUMAN",
            "refseq_ac": "NP_037468",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein transport protein Sec61 subunit alpha isoform 1",
                    "type": "recommended"
                },
                {
                    "name": "SEC61 translocon alpha 1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "Sec61 alpha 1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "Sec61 alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "protein transport protein SEC61 alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "protein transport protein Sec61 subunit alpha isoform 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein transport protein Sec61 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sec61 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SEC61A1",
                    "type": "recommended"
                },
                {
                    "name": "ADTKD5",
                    "type": "synonym"
                },
                {
                    "name": "CVID15",
                    "type": "synonym"
                },
                {
                    "name": "HNFJ4",
                    "type": "synonym"
                },
                {
                    "name": "HSEC61",
                    "type": "synonym"
                },
                {
                    "name": "SEC61A1",
                    "type": "synonym"
                },
                {
                    "name": "SEC61A",
                    "type": "synonym"
                },
                {
                    "name": "SEC61",
                    "type": "synonym"
                }
            ],
            "record_id": "P61619-1",
            "evidence": [
                {
                    "id": "617056",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617056"
                },
                {
                    "id": "0061120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061120"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32915-1",
            "uniprot_ac": "P32915",
            "uniprot_id": "SC61A_YEAST",
            "refseq_ac": "NP_013482",
            "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": "Protein transport protein SEC61",
                    "type": "recommended"
                },
                {
                    "name": "Sec61 complex subunit SEC61",
                    "type": "synonym"
                },
                {
                    "name": "Sec61 complex subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "translocon subunit SEC61",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SEC61",
                    "type": "recommended"
                },
                {
                    "name": "L3502.5",
                    "type": "synonym"
                },
                {
                    "name": "SEC61",
                    "type": "synonym"
                }
            ],
            "record_id": "P32915-1",
            "evidence": [
                {
                    "id": "0061120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061120"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38353-1",
            "uniprot_ac": "P38353",
            "uniprot_id": "SSH1_YEAST",
            "refseq_ac": "NP_009842",
            "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": "Sec sixty-one protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "Ssh1 complex subunit SSH1",
                    "type": "synonym"
                },
                {
                    "name": "Ssh1 complex subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Ssh1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SSH1",
                    "type": "recommended"
                },
                {
                    "name": "SSH1",
                    "type": "synonym"
                },
                {
                    "name": "YBR2020",
                    "type": "synonym"
                }
            ],
            "record_id": "P38353-1",
            "evidence": [
                {
                    "id": "0061120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061120"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61621-1",
            "uniprot_ac": "P61621",
            "uniprot_id": "S61A1_RAT",
            "refseq_ac": "NP_954865",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein transport protein Sec61 subunit alpha isoform 1",
                    "type": "recommended"
                },
                {
                    "name": "SEC61, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "Sec61 alpha 1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "Sec61 alpha subunit homolog",
                    "type": "synonym"
                },
                {
                    "name": "Sec61 alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "Sec61 translocon alpha 1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "protein transport protein Sec61 subunit alpha isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein transport protein Sec61 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sec61 alpha-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sec61a1",
                    "type": "recommended"
                },
                {
                    "name": "Sec61a2",
                    "type": "recommended"
                },
                {
                    "name": "Sec61a1",
                    "type": "synonym"
                },
                {
                    "name": "Sec61a",
                    "type": "synonym"
                }
            ],
            "record_id": "P61621-1",
            "evidence": [
                {
                    "id": "0061120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061120"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061120"
}