{
    "disease_id": "DOID:0060951",
    "recommended_name": {
        "id": "DOID:0060951",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060951",
        "name": "polycystic kidney disease 6",
        "description": "An autosomal dominant polycystic kidney disease characterized by the development of multiple small renal cysts and progression to renal insufficiency or end-stage renal disease (ESRD) most often after the sixth decade that has_material_basis_in heterozygous mutation in the DNAJB11 gene on chromosome 3q27."
    },
    "synonyms": [
        {
            "id": "MONDO:0054842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054842",
            "name": "polycystic kidney disease 6 with or without polycystic liver disease",
            "description": "Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene."
        },
        {
            "id": "MONDO:0054842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054842",
            "name": "DNAJB11 polycystic kidney disease",
            "description": ""
        },
        {
            "id": "MONDO:0054842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054842",
            "name": "polycystic kidney disease 6 with or without polycystic liver disease",
            "description": ""
        },
        {
            "id": "MONDO:0054842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054842",
            "name": "polycystic kidney disease caused by mutation in DNAJB11",
            "description": ""
        },
        {
            "id": "MONDO:0054842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054842",
            "name": "PKD6",
            "description": ""
        },
        {
            "id": "MIM:618061",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618061",
            "name": "Polycystic kidney disease 6 with or without polycystic liver disease",
            "description": "Polycystic kidney disease 6 with or without polycystic liver disease"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060951"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060951",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060951",
            "categories": []
        },
        {
            "id": "MONDO:0054842",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054842",
            "categories": []
        },
        {
            "id": "MIM:618061",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618061",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q99KV1-1",
            "uniprot_ac": "Q99KV1",
            "uniprot_id": "DJB11_MOUSE",
            "refseq_ac": "NP_001177733",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DnaJ homolog subfamily B member 11",
                    "type": "recommended"
                },
                {
                    "name": "ABBP-2",
                    "type": "synonym"
                },
                {
                    "name": "APOBEC1-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "DnaJ (Hsp40) homolog, subfamily B, member 11",
                    "type": "synonym"
                },
                {
                    "name": "ER-associated DNAJ",
                    "type": "synonym"
                },
                {
                    "name": "ER-associated Hsp40 co-chaperone",
                    "type": "synonym"
                },
                {
                    "name": "ER-associated dnaJ protein 3",
                    "type": "synonym"
                },
                {
                    "name": "ER-resident protein ERdj3",
                    "type": "synonym"
                },
                {
                    "name": "ERdj3",
                    "type": "synonym"
                },
                {
                    "name": "ERj3p",
                    "type": "synonym"
                },
                {
                    "name": "Endoplasmic reticulum DNA J domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily B member 11 precursor",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily B member 11",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum DNA J domain-containing protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnajb11",
                    "type": "recommended"
                },
                {
                    "name": "1810031F23Rik",
                    "type": "synonym"
                },
                {
                    "name": "ABBP-2",
                    "type": "synonym"
                },
                {
                    "name": "Dj9",
                    "type": "synonym"
                },
                {
                    "name": "Dnajb11",
                    "type": "synonym"
                },
                {
                    "name": "ERdj3",
                    "type": "synonym"
                },
                {
                    "name": "ERj3p",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99KV1-1",
            "evidence": [
                {
                    "id": "0060951",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060951"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UBS4-1",
            "uniprot_ac": "Q9UBS4",
            "uniprot_id": "DJB11_HUMAN",
            "refseq_ac": "NP_057390",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DnaJ homolog subfamily B member 11",
                    "type": "recommended"
                },
                {
                    "name": "ABBP-2",
                    "type": "synonym"
                },
                {
                    "name": "APOBEC1-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "DnaJ (Hsp40) homolog, subfamily B, member 11",
                    "type": "synonym"
                },
                {
                    "name": "DnaJ protein 9",
                    "type": "synonym"
                },
                {
                    "name": "DnaJ protein homolog 9",
                    "type": "synonym"
                },
                {
                    "name": "ER-associated DNAJ protein 3",
                    "type": "synonym"
                },
                {
                    "name": "ER-associated DNAJ",
                    "type": "synonym"
                },
                {
                    "name": "ER-associated Hsp40 co-chaperone",
                    "type": "synonym"
                },
                {
                    "name": "ER-resident protein ERdj3",
                    "type": "synonym"
                },
                {
                    "name": "ERdj3",
                    "type": "synonym"
                },
                {
                    "name": "ERj3p",
                    "type": "synonym"
                },
                {
                    "name": "Endoplasmic reticulum DNA J domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "HEDJ",
                    "type": "synonym"
                },
                {
                    "name": "Human DnaJ protein 9",
                    "type": "synonym"
                },
                {
                    "name": "PWP1-interacting protein 4",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily B member 11 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily B member 11",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum DNA J domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "hDj-9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAJB11",
                    "type": "recommended"
                },
                {
                    "name": "ABBP-2",
                    "type": "synonym"
                },
                {
                    "name": "ABBP2",
                    "type": "synonym"
                },
                {
                    "name": "DJ9",
                    "type": "synonym"
                },
                {
                    "name": "DNAJB11",
                    "type": "synonym"
                },
                {
                    "name": "Dj-9",
                    "type": "synonym"
                },
                {
                    "name": "EDJ",
                    "type": "synonym"
                },
                {
                    "name": "ERJ3",
                    "type": "synonym"
                },
                {
                    "name": "ERdj3",
                    "type": "synonym"
                },
                {
                    "name": "ERj3p",
                    "type": "synonym"
                },
                {
                    "name": "ERj3",
                    "type": "synonym"
                },
                {
                    "name": "HDJ9",
                    "type": "synonym"
                },
                {
                    "name": "PKD6",
                    "type": "synonym"
                },
                {
                    "name": "PRO1080",
                    "type": "synonym"
                },
                {
                    "name": "PSEC0121",
                    "type": "synonym"
                },
                {
                    "name": "UNQ537",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UBS4-1",
            "evidence": [
                {
                    "id": "618061",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618061"
                },
                {
                    "id": "0060951",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060951"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25303-1",
            "uniprot_ac": "P25303",
            "uniprot_id": "SCJ1_YEAST",
            "refseq_ac": "NP_013941",
            "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": "DnaJ-related protein SCJ1",
                    "type": "recommended"
                },
                {
                    "name": "J protein SCJ1",
                    "type": "synonym"
                },
                {
                    "name": "Scj1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCJ1",
                    "type": "recommended"
                },
                {
                    "name": "SCJ1",
                    "type": "synonym"
                },
                {
                    "name": "YM8261.08",
                    "type": "synonym"
                }
            ],
            "record_id": "P25303-1",
            "evidence": [
                {
                    "id": "0060951",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060951"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6TUG0-1",
            "uniprot_ac": "Q6TUG0",
            "uniprot_id": "DJB11_RAT",
            "refseq_ac": "NP_001015021",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DnaJ homolog subfamily B member 11",
                    "type": "recommended"
                },
                {
                    "name": "DnaJ (Hsp40) homolog, subfamily B, member 11",
                    "type": "synonym"
                },
                {
                    "name": "ER-associated DNAJ",
                    "type": "synonym"
                },
                {
                    "name": "ER-associated Hsp40 co-chaperone",
                    "type": "synonym"
                },
                {
                    "name": "ER-associated dnaJ protein 3",
                    "type": "synonym"
                },
                {
                    "name": "ER-resident protein ERdj3",
                    "type": "synonym"
                },
                {
                    "name": "ERdj3",
                    "type": "synonym"
                },
                {
                    "name": "ERj3p",
                    "type": "synonym"
                },
                {
                    "name": "Endoplasmic reticulum DNA J domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Liver regeneration-related protein LRRGT00084",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily B member 11 precursor",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily B member 11",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum DNA J domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "liver regeneration-related protein LRRGT00084",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnajb11",
                    "type": "recommended"
                },
                {
                    "name": "Dnajb11",
                    "type": "synonym"
                },
                {
                    "name": "LRRGT00084",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6TUG0-1",
            "evidence": [
                {
                    "id": "0060951",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060951"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VPQ2-1",
            "uniprot_ac": "Q9VPQ2",
            "uniprot_id": "DJSHV_DROME",
            "refseq_ac": "NP_608525",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "DnaJ homolog shv",
                    "type": "recommended"
                },
                {
                    "name": "CG4164-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein shriveled",
                    "type": "synonym"
                },
                {
                    "name": "shriveled",
                    "type": "synonym"
                },
                {
                    "name": "shv-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "shv",
                    "type": "recommended"
                },
                {
                    "name": "CG4164",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4164",
                    "type": "synonym"
                },
                {
                    "name": "shv",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VPQ2-1",
            "evidence": [
                {
                    "id": "0060951",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060951"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060951"
}