{
    "disease_id": "DOID:0060643",
    "recommended_name": {
        "id": "DOID:0060643",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060643",
        "name": "primary sclerosing cholangitis",
        "description": "A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension."
    },
    "synonyms": [
        {
            "id": "MONDO:0013433",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013433",
            "name": "primary sclerosing cholangitis",
            "description": "Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure."
        },
        {
            "id": "MONDO:0013433",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013433",
            "name": "PSC",
            "description": ""
        },
        {
            "id": "MONDO:0013433",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013433",
            "name": "cholangitis, primary sclerosing",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060643"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060643",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060643",
            "categories": []
        },
        {
            "id": "MONDO:0013433",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013433",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "Q1LX78-1",
            "uniprot_ac": "Q1LX78",
            "uniprot_id": "CFTR_DANRE",
            "refseq_ac": "NP_001038348",
            "glycoprotein": "yes",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Cystic fibrosis transmembrane conductance regulator",
                    "type": "recommended"
                },
                {
                    "name": "5.6.1.6",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family C member 7",
                    "type": "synonym"
                },
                {
                    "name": "Channel conductance-controlling ATPase",
                    "type": "synonym"
                },
                {
                    "name": "abcc7",
                    "type": "synonym"
                },
                {
                    "name": "cAMP-dependent chloride channel",
                    "type": "synonym"
                },
                {
                    "name": "channel conductance-controlling ATPase",
                    "type": "synonym"
                },
                {
                    "name": "cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)",
                    "type": "synonym"
                },
                {
                    "name": "cystic fibrosis transmembrane conductance regulator",
                    "type": "synonym"
                }
            ],
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                    "name": "cftr",
                    "type": "recommended"
                },
                {
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                    "type": "synonym"
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                    "name": "si:dkey-270i2.2",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060643",
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                }
            ]
        },
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                {
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
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                }
            ],
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                {
                    "name": "MHC class II",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein LOC368846 precursor",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein LOC368846 precursor",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "mhc2d8.45b1",
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                {
                    "name": "mhc2d8.45b1",
                    "type": "synonym"
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                {
                    "name": "si:busm1-228j01.6",
                    "type": "synonym"
                },
                {
                    "name": "si:dz228j01.6",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060643",
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                }
            ]
        },
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                {
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                    "glygen_name": "Zebrafish",
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                }
            ],
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                {
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                    "type": "synonym"
                },
                {
                    "name": "major histocompatibility complex class II DBB isoform X1",
                    "type": "synonym"
                }
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                {
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                    "type": "recommended"
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                },
                {
                    "name": "mhc2d18b",
                    "type": "synonym"
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                    "type": "synonym"
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                    "name": "si:busm1-241h12.1",
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                },
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                    "type": "synonym"
                },
                {
                    "name": "zgc:153067",
                    "type": "synonym"
                }
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                    "database": "AGR",
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                }
            ]
        },
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            "uniprot_ac": "A0A8N7TEZ1",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein LOC553479",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein LOC553479",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "krt18a.2",
                    "type": "recommended"
                },
                {
                    "name": "krt18a.2",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-133j6.3",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060643",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060643"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7ZTS4-1",
            "uniprot_ac": "Q7ZTS4",
            "uniprot_id": "K1C18_DANRE",
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            "glycoprotein": "yes",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Keratin, type I cytoskeletal 18",
                    "type": "recommended"
                },
                {
                    "name": "CK-18",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-18",
                    "type": "synonym"
                },
                {
                    "name": "Dorsal aorta proneprin kinesin-1",
                    "type": "synonym"
                },
                {
                    "name": "DreK18",
                    "type": "synonym"
                },
                {
                    "name": "K18",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-18",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin-18",
                    "type": "synonym"
                },
                {
                    "name": "dorsal aorta proneprin kinesin-1",
                    "type": "synonym"
                },
                {
                    "name": "keratin 18",
                    "type": "synonym"
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                {
                    "name": "keratin, type I cytoskeletal 18",
                    "type": "synonym"
                }
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                    "type": "recommended"
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                {
                    "name": "DreK18",
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                },
                {
                    "name": "cb83",
                    "type": "synonym"
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                {
                    "name": "dapk1",
                    "type": "synonym"
                },
                {
                    "name": "krt18a.1",
                    "type": "synonym"
                },
                {
                    "name": "krt18",
                    "type": "synonym"
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                {
                    "name": "sb:cb83",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa13f02",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb36b04",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060643",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060643"
                }
            ]
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            "uniprot_canonical_ac": "Q4W898-1",
            "uniprot_ac": "Q4W898",
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                    "name": "Danio rerio",
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                    "name": "Lymphotoxin-alpha",
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                    "name": "TNF alpha",
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                },
                {
                    "name": "TNF-alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "TNF-alpha",
                    "type": "synonym"
                },
                {
                    "name": "TNF-beta",
                    "type": "synonym"
                },
                {
                    "name": "TNF2",
                    "type": "synonym"
                },
                {
                    "name": "Tumor necrosis factor ligand superfamily member 1",
                    "type": "synonym"
                },
                {
                    "name": "Tumor necrosis factor",
                    "type": "synonym"
                },
                {
                    "name": "lta",
                    "type": "synonym"
                },
                {
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                {
                    "name": "tumor necrosis factor alpha",
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                },
                {
                    "name": "tumor necrosis factor b (TNF superfamily, member 2)",
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                }
            ],
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                    "id": "0060643",
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                    "name": "nuclear receptor subfamily 1 group I member 1-A",
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                    "name": "etID309976.16",
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                    "name": "vascular endothelial growth factor Ab isoform X1",
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                    "name": "Mus musculus",
                    "taxid": 10090,
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                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "ATP-binding cassette sub-family B member 4",
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                },
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                    "name": "P glycoprotein 2",
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                },
                {
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                },
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                    "name": "multidrug resistance protein 2",
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                {
                    "name": "multidrug resistance protein 3",
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                {
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                    "name": "mdr-2",
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                    "id": "0060643",
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                }
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                {
                    "name": "ATP-binding cassette sub-family C member 7",
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                {
                    "name": "ATP-binding cassette transporter sub-family C member 7",
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                {
                    "name": "ATP-binding cassette, subfamily c, member 7",
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                {
                    "name": "Channel conductance-controlling ATPase",
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                {
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                {
                    "name": "channel conductance-controlling ATPase",
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                {
                    "name": "cystic fibrosis transmembrane conductance regulator homolog",
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                {
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                    "id": "0060643",
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                {
                    "name": "Deoxyribonuclease I",
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                    "name": "deoxyribonuclease-1 precursor",
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                    "id": "0060643",
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                    "name": "Kerd",
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                    "id": "0060643",
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                    "id": "0060643",
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                    "name": "K18",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-18",
                    "type": "synonym"
                },
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                    "name": "cytokeratin-18",
                    "type": "synonym"
                },
                {
                    "name": "keratin 18, type I",
                    "type": "synonym"
                },
                {
                    "name": "keratin complex 1, acidic, gene 18",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type I cytoskeletal 18",
                    "type": "synonym"
                }
            ],
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                    "name": "Krt18",
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                {
                    "name": "Krt1-18",
                    "type": "synonym"
                },
                {
                    "name": "Krt18",
                    "type": "synonym"
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            ],
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                    "id": "0060643",
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                }
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            ],
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                {
                    "name": "GnRH-R",
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                    "name": "gnRH receptor",
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                {
                    "name": "gnRH-R",
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                },
                {
                    "name": "gonadotropin-releasing hormone receptor",
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                {
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            ],
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                    "name": "N-terminal fragment",
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                    "name": "NTF",
                    "type": "synonym"
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                    "name": "TNF-alpha",
                    "type": "synonym"
                },
                {
                    "name": "TNF-a",
                    "type": "synonym"
                },
                {
                    "name": "Tumor necrosis factor ligand superfamily member 2",
                    "type": "synonym"
                },
                {
                    "name": "cachectin",
                    "type": "synonym"
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                {
                    "name": "tumor necrosis factor (TNF superfamily, member 2)",
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                {
                    "name": "tumor necrosis factor ligand superfamily member 2",
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                },
                {
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                }
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                {
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                    "name": "Tnfa",
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                {
                    "name": "Tnfsf2",
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                {
                    "name": "Tnf",
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                    "id": "0060643",
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                },
                {
                    "name": "Vascular permeability factor",
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                },
                {
                    "name": "vascular endothelial growth factor A isoform 3",
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                {
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                    "name": "VEGF164",
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                    "id": "0060643",
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                    "name": "1,25-dihydroxyvitamin D3 receptor",
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                {
                    "name": "Nuclear receptor subfamily 1 group I member 1",
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                {
                    "name": "nuclear receptor subfamily 1 group I member 1",
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                {
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                    "name": "CG10226-PA",
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                {
                    "name": "uncharacterized protein, isoform A",
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            ],
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                    "name": "Multidrug resistance protein homolog 65",
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                {
                    "name": "CG10181-PA",
                    "type": "synonym"
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                    "name": "MDR65",
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                {
                    "name": "Mdr65-PA",
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                },
                {
                    "name": "P-glycoprotein 65",
                    "type": "synonym"
                },
                {
                    "name": "P-glycoprotein65-Dm",
                    "type": "synonym"
                },
                {
                    "name": "multi drug resistance 65",
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                },
                {
                    "name": "multiple drug resistance 65",
                    "type": "synonym"
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                    "name": "Mdr65",
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                    "name": "CG10181",
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                {
                    "name": "DmMdr65",
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                {
                    "name": "Dmel\\CG10181",
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                {
                    "name": "MDR65",
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                {
                    "name": "Mdr65A",
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                {
                    "name": "Mdr65",
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                },
                {
                    "name": "P-glycoprotein",
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                {
                    "name": "P-gp",
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                {
                    "name": "mdr65",
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                    "id": "0060643",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060643"
                }
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                    "name": "Drosophila melanogaster",
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                {
                    "name": "Mdr49-PB",
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                {
                    "name": "P-glycoprotein 49",
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                {
                    "name": "multi drug resistance 49, isoform B",
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                    "name": "Dm5",
                    "type": "synonym"
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                {
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                    "type": "synonym"
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                {
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                    "type": "synonym"
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                {
                    "name": "Dmel_CG3879",
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                    "type": "synonym"
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                    "name": "MDR5",
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                {
                    "name": "Mdr49",
                    "type": "synonym"
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                {
                    "name": "Mes5",
                    "type": "synonym"
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                {
                    "name": "mdr49",
                    "type": "synonym"
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                {
                    "name": "mrd49",
                    "type": "synonym"
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                    "id": "0060643",
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                    "name": "CT77",
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                {
                    "name": "Cancer/testis antigen 77",
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                    "name": "cancer/testis antigen 77",
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                    "id": "0060643",
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                    "name": "Estrogen receptor",
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                    "name": "E2 receptor alpha",
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                    "name": "ER-alpha",
                    "type": "synonym"
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                {
                    "name": "ER",
                    "type": "synonym"
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                    "name": "Estradiol receptor",
                    "type": "synonym"
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                {
                    "name": "Nuclear receptor subfamily 3 group A member 1",
                    "type": "synonym"
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                    "name": "estradiol receptor",
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                {
                    "name": "estrogen nuclear receptor alpha",
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                {
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                {
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                {
                    "name": "nuclear receptor subfamily 3 group A member 1",
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                    "name": "oestrogen receptor alpha",
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                    "name": "ER",
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                    "name": "ESR1",
                    "type": "synonym"
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                {
                    "name": "ESRA",
                    "type": "synonym"
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                {
                    "name": "ESR",
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                    "name": "ESTRR",
                    "type": "synonym"
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                    "name": "Era",
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                {
                    "name": "NR3A1",
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                    "id": "0060643",
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                    "name": "cancer/testis antigen 114",
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                    "name": "CAPR",
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                    "name": "CDCBM9",
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                    "name": "CT114",
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                    "id": "0060643",
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                    "name": "Homo sapiens",
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            ],
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                    "name": "Deoxyribonuclease-1",
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                    "name": "3.1.21.1",
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                },
                {
                    "name": "DNase I, lysosomal",
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                {
                    "name": "DNase I",
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                },
                {
                    "name": "Deoxyribonuclease I",
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                },
                {
                    "name": "Dornase alfa",
                    "type": "synonym"
                },
                {
                    "name": "deoxyribonuclease-1 isoform 1 precursor",
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                {
                    "name": "human urine deoxyribonuclease I",
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                }
            ],
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                    "name": "DNASE1",
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                    "name": "DNASE1",
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                {
                    "name": "DNL1",
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                {
                    "name": "DRNI",
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            ],
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                    "id": "0060643",
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                }
            ]
        },
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            "uniprot_canonical_ac": "P21439-1",
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                    "name": "Homo sapiens",
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            ],
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                {
                    "name": "Phosphatidylcholine translocator ABCB4",
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                    "name": "7.6.2.1",
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                {
                    "name": "ATP-binding cassette sub-family B member 4",
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                {
                    "name": "ATP-binding cassette, sub-family B (MDR/TAP), member 4",
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                },
                {
                    "name": "Multidrug resistance protein 3",
                    "type": "synonym"
                },
                {
                    "name": "P-glycoprotein 3",
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                },
                {
                    "name": "P-glycoprotein-3/multiple drug resistance-3",
                    "type": "synonym"
                },
                {
                    "name": "multidrug resistance protein 3",
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                },
                {
                    "name": "multiple drug resistance 3",
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                },
                {
                    "name": "phosphatidylcholine translocator ABCB4 isoform A",
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                },
                {
                    "name": "phosphatidylcholine translocator ABCB4",
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                }
            ],
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                {
                    "name": "ABCB4",
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                {
                    "name": "ABC21",
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                {
                    "name": "ABCB4",
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                {
                    "name": "GBD1",
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                {
                    "name": "ICP3",
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                {
                    "name": "MDR2/3",
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                {
                    "name": "MDR2",
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                {
                    "name": "MDR3",
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                {
                    "name": "PFIC-3",
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                {
                    "name": "PGY3",
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            ],
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                    "id": "0060643",
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                }
            ]
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                }
            ],
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                {
                    "name": "HLA class II histocompatibility antigen, DQ beta 1 chain",
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                {
                    "name": "HLA class II histocompatibility antigen, DQ beta 1 chain isoform 1 precursor",
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                {
                    "name": "HLA class II histocompatibility antigen, DQ beta 1 chain",
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                {
                    "name": "MHC class II DQ beta chain",
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                },
                {
                    "name": "MHC class II HLA-DQ beta glycoprotein",
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                {
                    "name": "MHC class II antigen DQB1",
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                },
                {
                    "name": "MHC class II antigen HLA-DQ-beta-1",
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                    "name": "HLA-DQB1",
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                    "name": "CELIAC1",
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                {
                    "name": "HLA-DQB1",
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                    "name": "HLA-DQB",
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                {
                    "name": "IDDM1",
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                    "id": "0060643",
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                }
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            ],
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                    "name": "5.6.1.6",
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                {
                    "name": "ATP-binding cassette sub-family C member 7",
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                {
                    "name": "Channel conductance-controlling ATPase",
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                {
                    "name": "cAMP-dependent chloride channel",
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                {
                    "name": "channel conductance-controlling ATPase",
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                {
                    "name": "cystic fibrosis transmembrane conductance regulating",
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                {
                    "name": "cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)",
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                {
                    "name": "cystic fibrosis transmembrane conductance regulator",
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                }
            ],
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                    "name": "CFTR",
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                {
                    "name": "ABC35",
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                },
                {
                    "name": "ABCC7",
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                    "name": "CFTR/MRP",
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                    "name": "CFTR",
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                    "name": "CF",
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                {
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                {
                    "name": "TNR-CFTR",
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                {
                    "name": "dJ760C5.1",
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                    "id": "0060643",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060643"
}