{
    "disease_id": "DOID:0060980",
    "recommended_name": {
        "id": "DOID:0060980",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060980",
        "name": "polycystic liver disease 1",
        "description": "A polycystic disease characterized by the presence of multiple liver cysts of biliary epithelial origin that has_material_basis_in heterozygous mutation in the PRKCSH gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0008265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008265",
            "name": "polycystic liver disease 1",
            "description": "A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver."
        },
        {
            "id": "MONDO:0008265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008265",
            "name": "isolated congenital polycystic liver disease",
            "description": ""
        },
        {
            "id": "MONDO:0008265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008265",
            "name": "isolated polycystic liver disease",
            "description": ""
        },
        {
            "id": "MONDO:0008265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008265",
            "name": "PCLD1",
            "description": ""
        },
        {
            "id": "MONDO:0008265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008265",
            "name": "nonsyndromic congenital polycystic liver disease",
            "description": ""
        },
        {
            "id": "MONDO:0008265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008265",
            "name": "nonsyndromic polycystic liver disease (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0008265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008265",
            "name": "polycystic liver disease 1",
            "description": ""
        },
        {
            "id": "MONDO:0008265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008265",
            "name": "polycystic liver disease 1 with or without kidney cysts",
            "description": ""
        },
        {
            "id": "MONDO:0008265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008265",
            "name": "ADPCLD",
            "description": ""
        },
        {
            "id": "MONDO:0008265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008265",
            "name": "PCLD",
            "description": ""
        },
        {
            "id": "MONDO:0008265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008265",
            "name": "isolated autosomal dominant polycystic liver disease",
            "description": ""
        },
        {
            "id": "MONDO:0008265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008265",
            "name": "polycystic liver disease",
            "description": ""
        },
        {
            "id": "MIM:174050",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/174050",
            "name": "Polycystic liver disease 1 with or without kidney cysts",
            "description": "Polycystic liver disease 1 with or without kidney cysts"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060980"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060980",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060980",
            "categories": []
        },
        {
            "id": "MONDO:0008265",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008265",
            "categories": []
        },
        {
            "id": "MIM:174050",
            "database": "MIM",
            "url": "https://www.omim.org/entry/174050",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "F1QTJ4",
            "uniprot_id": "F1QTJ4_DANRE",
            "refseq_ac": "NP_001170929",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Low-density lipoprotein receptor-related protein 5 isoform 1 precursor",
                    "type": "synonym"
                },
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                    "type": "synonym"
                }
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                    "type": "recommended"
                },
                {
                    "name": "LRP6",
                    "type": "synonym"
                },
                {
                    "name": "lrp5",
                    "type": "synonym"
                }
            ],
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            "evidence": [
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060980"
                }
            ]
        },
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            "uniprot_canonical_ac": "A0A8M2BBI5-1",
            "uniprot_ac": "A0A8M2BBI5",
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            "refseq_ac": "XP_005164280",
            "glycoprotein": "no",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucosidase 2 subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "glucosidase 2 subunit beta isoform X1",
                    "type": "synonym"
                }
            ],
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                    "name": "prkcsh",
                    "type": "recommended"
                },
                {
                    "name": "prkcsh",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55653",
                    "type": "synonym"
                }
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                    "id": "0060980",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060980"
                }
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        },
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            "uniprot_ac": "Q91VN0",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
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                }
            ],
            "protein_names": [
                {
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                    "type": "recommended"
                },
                {
                    "name": "LRP-5",
                    "type": "synonym"
                },
                {
                    "name": "LRP-7",
                    "type": "synonym"
                },
                {
                    "name": "Low-density lipoprotein receptor-related protein 7",
                    "type": "synonym"
                },
                {
                    "name": "low-density lipoprotein receptor-related protein 5 precursor",
                    "type": "synonym"
                },
                {
                    "name": "low-density lipoprotein receptor-related protein 7",
                    "type": "synonym"
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            ],
            "gene_names": [
                {
                    "name": "Lrp5",
                    "type": "recommended"
                },
                {
                    "name": "BMND1",
                    "type": "synonym"
                },
                {
                    "name": "HBM",
                    "type": "synonym"
                },
                {
                    "name": "LR3",
                    "type": "synonym"
                },
                {
                    "name": "LRP7",
                    "type": "synonym"
                },
                {
                    "name": "Lr3",
                    "type": "synonym"
                },
                {
                    "name": "Lrp5",
                    "type": "synonym"
                },
                {
                    "name": "Lrp7",
                    "type": "synonym"
                },
                {
                    "name": "OPPG",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA4142",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0060980",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060980"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08795-1",
            "uniprot_ac": "O08795",
            "uniprot_id": "GLU2B_MOUSE",
            "refseq_ac": "NP_001280579",
            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Glucosidase 2 subunit beta",
                    "type": "recommended"
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                {
                    "name": "80K-H protein",
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                },
                {
                    "name": "Glucosidase II subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "PKCSH",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase C substrate 60.1 kDa protein heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "alpha glucosidase II, beta-subunit",
                    "type": "synonym"
                },
                {
                    "name": "carbohydrate processing enzyme of the endoplasmic reticulum",
                    "type": "synonym"
                },
                {
                    "name": "glucosidase 2 subunit beta isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "glucosidase 2 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "glucosidase II beta-subunit",
                    "type": "synonym"
                },
                {
                    "name": "hepatocystin",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C substrate 60.1 kDa protein heavy chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prkcsh",
                    "type": "recommended"
                },
                {
                    "name": "80K-H",
                    "type": "synonym"
                },
                {
                    "name": "PKCSH",
                    "type": "synonym"
                },
                {
                    "name": "Prkcsh",
                    "type": "synonym"
                }
            ],
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                    "id": "0060980",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060980"
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            "uniprot_canonical_ac": "Q9Z2V5-1",
            "uniprot_ac": "Q9Z2V5",
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            "refseq_ac": "NP_001123888",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Protein deacetylase HDAC6",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Tubulin-lysine deacetylase HDAC6",
                    "type": "synonym"
                },
                {
                    "name": "histone deacetylase 5",
                    "type": "synonym"
                },
                {
                    "name": "histone deacetylase mHDA2",
                    "type": "synonym"
                },
                {
                    "name": "mHDA2",
                    "type": "synonym"
                },
                {
                    "name": "protein deacetylase HDAC6 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein deacetylase HDAC6",
                    "type": "synonym"
                },
                {
                    "name": "scurfy candidate 6",
                    "type": "synonym"
                },
                {
                    "name": "tubulin-lysine deacetylase HDAC6",
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            ],
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                    "name": "Hdac6",
                    "type": "recommended"
                },
                {
                    "name": "Hd6",
                    "type": "synonym"
                },
                {
                    "name": "Hdac5",
                    "type": "synonym"
                },
                {
                    "name": "Hdac6",
                    "type": "synonym"
                },
                {
                    "name": "Sfc6",
                    "type": "synonym"
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                    "id": "0060980",
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            ]
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            "uniprot_canonical_ac": "P14314-1",
            "uniprot_ac": "P14314",
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            "refseq_ac": "NP_001001329",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "Glucosidase 2 subunit beta",
                    "type": "recommended"
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                    "name": "80K-H protein",
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                {
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                },
                {
                    "name": "Glucosidase II subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "PKCSH",
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                },
                {
                    "name": "Protein kinase C substrate 60.1 kDa protein heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "advanced glycation end-product receptor 2",
                    "type": "synonym"
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                {
                    "name": "glucosidase 2 subunit beta isoform 2 precursor",
                    "type": "synonym"
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                    "name": "glucosidase 2 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "glucosidase II subunit beta",
                    "type": "synonym"
                },
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                    "name": "hepatocystin",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C substrate 60.1 kDa protein heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C substrate 80K-H",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C substrate, 80 Kda protein",
                    "type": "synonym"
                }
            ],
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                    "name": "PRKCSH",
                    "type": "recommended"
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                    "name": "80K-H",
                    "type": "synonym"
                },
                {
                    "name": "AGE-R2",
                    "type": "synonym"
                },
                {
                    "name": "G19P1",
                    "type": "synonym"
                },
                {
                    "name": "GIIB",
                    "type": "synonym"
                },
                {
                    "name": "GIIbeta",
                    "type": "synonym"
                },
                {
                    "name": "GluIIbeta",
                    "type": "synonym"
                },
                {
                    "name": "PCLD1",
                    "type": "synonym"
                },
                {
                    "name": "PCLD",
                    "type": "synonym"
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                {
                    "name": "PKCSH",
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                },
                {
                    "name": "PLD1",
                    "type": "synonym"
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                {
                    "name": "PRKCSH",
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                {
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                    "id": "0060980",
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                    "name": "3.5.1.98",
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            ],
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                    "name": "Or10a3",
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                    "id": "0060980",
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                }
            ],
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                    "name": "Protein deacetylase HDAC6",
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                    "name": "2.3.2.-",
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                    "name": "3.5.1.-",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase HDAC6",
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                },
                {
                    "name": "Tubulin-lysine deacetylase HDAC6",
                    "type": "synonym"
                }
            ],
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                    "type": "recommended"
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                    "name": "LOC103689963",
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                }
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                    "id": "0060980",
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            "uniprot_canonical_ac": "F1MAD0-1",
            "uniprot_ac": "F1MAD0",
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                    "name": "Rattus norvegicus",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Low-density lipoprotein receptor-related protein",
                    "type": "recommended"
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                {
                    "name": "low-density lipoprotein receptor-related protein 5 isoform 1 precursor",
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                {
                    "name": "low-density lipoprotein receptor-related protein 5",
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                    "name": "Lrp5",
                    "type": "recommended"
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}