{
    "disease_id": "DOID:0060975",
    "recommended_name": {
        "id": "DOID:0060975",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060975",
        "name": "polycystic liver disease 2",
        "description": "A liver disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development that has_material_basis_in heterozygous mutation in the SEC63 gene on chromosome 6q21."
    },
    "synonyms": [
        {
            "id": "DOID:0060975",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060975",
            "name": "POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS",
            "description": ""
        },
        {
            "id": "MONDO:0014860",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014860",
            "name": "polycystic liver disease 2",
            "description": "Any polycystic kidney disease in which the cause of the disease is a mutation in the SEC63 gene."
        },
        {
            "id": "MONDO:0014860",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014860",
            "name": "PCLD2",
            "description": ""
        },
        {
            "id": "MONDO:0014860",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014860",
            "name": "polycystic liver disease 2",
            "description": ""
        },
        {
            "id": "MONDO:0014860",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014860",
            "name": "polycystic liver disease 2; PCLD2",
            "description": ""
        },
        {
            "id": "MONDO:0014860",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014860",
            "name": "polycystic liver disease type 2",
            "description": ""
        },
        {
            "id": "MIM:617004",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617004",
            "name": "Polycystic liver disease 2 with or without kidney cysts",
            "description": "Polycystic liver disease 2 with or without kidney cysts"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060975"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060975",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060975",
            "categories": []
        },
        {
            "id": "MONDO:0014860",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014860",
            "categories": []
        },
        {
            "id": "MIM:617004",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617004",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8VHE0-1",
            "uniprot_ac": "Q8VHE0",
            "uniprot_id": "SEC63_MOUSE",
            "refseq_ac": "NP_694695",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translocation protein SEC63 homolog",
                    "type": "recommended"
                },
                {
                    "name": "DnaJ homolog subfamily C member 23",
                    "type": "synonym"
                },
                {
                    "name": "SEC63-like",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily C member 23",
                    "type": "synonym"
                },
                {
                    "name": "translocation protein SEC63 homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "translocation protein SEC63 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sec63",
                    "type": "recommended"
                },
                {
                    "name": "5730478J10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dnajc23",
                    "type": "synonym"
                },
                {
                    "name": "Sec63l",
                    "type": "synonym"
                },
                {
                    "name": "Sec63",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VHE0-1",
            "evidence": [
                {
                    "id": "0060975",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060975"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UGP8-1",
            "uniprot_ac": "Q9UGP8",
            "uniprot_id": "SEC63_HUMAN",
            "refseq_ac": "NP_009145",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translocation protein SEC63 homolog",
                    "type": "recommended"
                },
                {
                    "name": "DnaJ homolog subfamily C member 23",
                    "type": "synonym"
                },
                {
                    "name": "SEC63 homolog, protein translocation regulator",
                    "type": "synonym"
                },
                {
                    "name": "SEC63-like protein",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily C member 23",
                    "type": "synonym"
                },
                {
                    "name": "translocation protein SEC63 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SEC63",
                    "type": "recommended"
                },
                {
                    "name": "DNAJC23",
                    "type": "synonym"
                },
                {
                    "name": "ERdj2",
                    "type": "synonym"
                },
                {
                    "name": "PCLD2",
                    "type": "synonym"
                },
                {
                    "name": "PRO2507",
                    "type": "synonym"
                },
                {
                    "name": "SEC63L",
                    "type": "synonym"
                },
                {
                    "name": "SEC63",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UGP8-1",
            "evidence": [
                {
                    "id": "0014860",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014860"
                },
                {
                    "id": "617004",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617004"
                },
                {
                    "id": "0060975",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060975"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14906-1",
            "uniprot_ac": "P14906",
            "uniprot_id": "SEC63_YEAST",
            "refseq_ac": "NP_014897",
            "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 translocation protein SEC63",
                    "type": "recommended"
                },
                {
                    "name": "Protein NPL1",
                    "type": "synonym"
                },
                {
                    "name": "Sec62/63 complex 73 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "protein-transporting protein SEC63",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SEC63",
                    "type": "recommended"
                },
                {
                    "name": "NPL1",
                    "type": "synonym"
                },
                {
                    "name": "PTL1",
                    "type": "synonym"
                },
                {
                    "name": "SEC63",
                    "type": "synonym"
                }
            ],
            "record_id": "P14906-1",
            "evidence": [
                {
                    "id": "0060975",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060975"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZYJ9-1",
            "uniprot_ac": "A0A8I5ZYJ9",
            "uniprot_id": "A0A8I5ZYJ9_RAT",
            "refseq_ac": "NP_001421558",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translocation protein SEC63 homolog",
                    "type": "recommended"
                },
                {
                    "name": "DnaJ homolog subfamily C member 23",
                    "type": "synonym"
                },
                {
                    "name": "SEC63 homolog, protein translocation regulator",
                    "type": "synonym"
                },
                {
                    "name": "SEC63-like protein",
                    "type": "synonym"
                },
                {
                    "name": "translocation protein SEC63 homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "translocation protein SEC63 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sec63",
                    "type": "recommended"
                },
                {
                    "name": "Sec63",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZYJ9-1",
            "evidence": [
                {
                    "id": "0060975",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060975"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VS57-1",
            "uniprot_ac": "Q9VS57",
            "uniprot_id": "Q9VS57_DROME",
            "refseq_ac": "NP_648111",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG8583-PA",
                    "type": "synonym"
                },
                {
                    "name": "Sec63 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "Sec63-PA",
                    "type": "synonym"
                },
                {
                    "name": "Secretory 63",
                    "type": "synonym"
                },
                {
                    "name": "sec63",
                    "type": "synonym"
                },
                {
                    "name": "secretory 63",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sec63",
                    "type": "recommended"
                },
                {
                    "name": "CG8583",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8583",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8583",
                    "type": "synonym"
                },
                {
                    "name": "Sec63",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.333",
                    "type": "synonym"
                },
                {
                    "name": "peg",
                    "type": "synonym"
                },
                {
                    "name": "sec63",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VS57-1",
            "evidence": [
                {
                    "id": "0060975",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060975"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060975"
}