{
    "disease_id": "DOID:0070223",
    "recommended_name": {
        "id": "DOID:0070223",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070223",
        "name": "progressive familial intrahepatic cholestasis 3",
        "description": "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12."
    },
    "synonyms": [
        {
            "id": "DOID:0070223",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070223",
            "name": "MDR3 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0070223",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070223",
            "name": "PFIC3",
            "description": ""
        },
        {
            "id": "DOID:0070223",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070223",
            "name": "progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase",
            "description": ""
        },
        {
            "id": "MONDO:0011214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011214",
            "name": "progressive familial intrahepatic cholestasis type 3",
            "description": "Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood."
        },
        {
            "id": "MONDO:0011214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011214",
            "name": "ABCB4 progressive familial intrahepatic cholestasis",
            "description": ""
        },
        {
            "id": "MONDO:0011214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011214",
            "name": "MDR3 Deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011214",
            "name": "PFIC3",
            "description": ""
        },
        {
            "id": "MONDO:0011214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011214",
            "name": "cholestasis, progressive familial intrahepatic 3",
            "description": ""
        },
        {
            "id": "MONDO:0011214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011214",
            "name": "cholestasis, progressive familial intrahepatic, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0011214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011214",
            "name": "progressive familial intrahepatic cholestasis caused by mutation in ABCB4",
            "description": ""
        },
        {
            "id": "MONDO:0011214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011214",
            "name": "cholestasis, progressive familial intrahepatic, 3",
            "description": ""
        },
        {
            "id": "MONDO:0011214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011214",
            "name": "progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase",
            "description": ""
        },
        {
            "id": "MIM:602347",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602347",
            "name": "Cholestasis, progressive familial intrahepatic, 3",
            "description": "Cholestasis, progressive familial intrahepatic, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070223"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070223",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070223",
            "categories": []
        },
        {
            "id": "MONDO:0011214",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011214",
            "categories": []
        },
        {
            "id": "MIM:602347",
            "database": "MIM",
            "url": "https://www.omim.org/entry/602347",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P21440-1",
            "uniprot_ac": "P21440",
            "uniprot_id": "MDR3_MOUSE",
            "refseq_ac": "NP_032856",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylcholine translocator ABCB4",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family B member 4",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family B (MDR/TAP), member 4",
                    "type": "synonym"
                },
                {
                    "name": "Multidrug resistance protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Multidrug resistance protein 3",
                    "type": "synonym"
                },
                {
                    "name": "P glycoprotein 2",
                    "type": "synonym"
                },
                {
                    "name": "P-glycoprotein 2",
                    "type": "synonym"
                },
                {
                    "name": "P-glycoprotein 3",
                    "type": "synonym"
                },
                {
                    "name": "multidrug resistance protein 2",
                    "type": "synonym"
                },
                {
                    "name": "multidrug resistance protein 3",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylcholine translocator ABCB4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Abcb4",
                    "type": "recommended"
                },
                {
                    "name": "Abcb4",
                    "type": "synonym"
                },
                {
                    "name": "Mdr2",
                    "type": "synonym"
                },
                {
                    "name": "Pgy-2",
                    "type": "synonym"
                },
                {
                    "name": "Pgy2",
                    "type": "synonym"
                },
                {
                    "name": "mdr-2",
                    "type": "synonym"
                }
            ],
            "record_id": "P21440-1",
            "evidence": [
                {
                    "id": "0070223",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070223"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21439-1",
            "uniprot_ac": "P21439",
            "uniprot_id": "MDR3_HUMAN",
            "refseq_ac": "NP_000434",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylcholine translocator ABCB4",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family B member 4",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family B (MDR/TAP), member 4",
                    "type": "synonym"
                },
                {
                    "name": "Multidrug resistance protein 3",
                    "type": "synonym"
                },
                {
                    "name": "P-glycoprotein 3",
                    "type": "synonym"
                },
                {
                    "name": "P-glycoprotein-3/multiple drug resistance-3",
                    "type": "synonym"
                },
                {
                    "name": "multidrug resistance protein 3",
                    "type": "synonym"
                },
                {
                    "name": "multiple drug resistance 3",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylcholine translocator ABCB4 isoform A",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylcholine translocator ABCB4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ABCB4",
                    "type": "recommended"
                },
                {
                    "name": "ABC21",
                    "type": "synonym"
                },
                {
                    "name": "ABCB4",
                    "type": "synonym"
                },
                {
                    "name": "GBD1",
                    "type": "synonym"
                },
                {
                    "name": "ICP3",
                    "type": "synonym"
                },
                {
                    "name": "MDR2/3",
                    "type": "synonym"
                },
                {
                    "name": "MDR2",
                    "type": "synonym"
                },
                {
                    "name": "MDR3",
                    "type": "synonym"
                },
                {
                    "name": "PFIC-3",
                    "type": "synonym"
                },
                {
                    "name": "PGY3",
                    "type": "synonym"
                }
            ],
            "record_id": "P21439-1",
            "evidence": [
                {
                    "id": "602347",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/602347"
                },
                {
                    "id": "0070223",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070223"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12866-1",
            "uniprot_ac": "P12866",
            "uniprot_id": "STE6_YEAST",
            "refseq_ac": "NP_012713",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-factor-transporting ATPase",
                    "type": "recommended"
                },
                {
                    "name": "7.4.2.7",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette a-factor transporter STE6",
                    "type": "synonym"
                },
                {
                    "name": "Mating factor A secretion protein STE6",
                    "type": "synonym"
                },
                {
                    "name": "Multiple drug resistance protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "P-glycoprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STE6",
                    "type": "recommended"
                },
                {
                    "name": "STE6",
                    "type": "synonym"
                }
            ],
            "record_id": "P12866-1",
            "evidence": [
                {
                    "id": "0070223",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070223"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43245-1",
            "uniprot_ac": "P43245",
            "uniprot_id": "MDR1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent translocase ABCB1",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "7.6.2.2",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family B member 1",
                    "type": "synonym"
                },
                {
                    "name": "Multidrug resistance protein 1",
                    "type": "synonym"
                },
                {
                    "name": "P-glycoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipid transporter ABCB1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Abcb1a",
                    "type": "recommended"
                },
                {
                    "name": "Abcb1b",
                    "type": "recommended"
                },
                {
                    "name": "Abcb1",
                    "type": "recommended"
                },
                {
                    "name": "Abcb4",
                    "type": "recommended"
                },
                {
                    "name": "Abcb1a",
                    "type": "synonym"
                },
                {
                    "name": "Abcb1b",
                    "type": "synonym"
                },
                {
                    "name": "Abcb1",
                    "type": "synonym"
                },
                {
                    "name": "Abcb4",
                    "type": "synonym"
                },
                {
                    "name": "Mdr1b",
                    "type": "synonym"
                },
                {
                    "name": "Mdr1",
                    "type": "synonym"
                },
                {
                    "name": "Pgy1",
                    "type": "synonym"
                }
            ],
            "record_id": "P43245-1",
            "evidence": [
                {
                    "id": "0070223",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070223"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00748-1",
            "uniprot_ac": "Q00748",
            "uniprot_id": "MDR65_DROME",
            "refseq_ac": "NP_476831",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Multidrug resistance protein homolog 65",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.2",
                    "type": "synonym"
                },
                {
                    "name": "CG10181-PA",
                    "type": "synonym"
                },
                {
                    "name": "MDR65",
                    "type": "synonym"
                },
                {
                    "name": "Mdr65-PA",
                    "type": "synonym"
                },
                {
                    "name": "P-glycoprotein 65",
                    "type": "synonym"
                },
                {
                    "name": "P-glycoprotein65-Dm",
                    "type": "synonym"
                },
                {
                    "name": "multi drug resistance 65",
                    "type": "synonym"
                },
                {
                    "name": "multiple drug resistance 65",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mdr65",
                    "type": "recommended"
                },
                {
                    "name": "CG10181",
                    "type": "synonym"
                },
                {
                    "name": "DmMdr65",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10181",
                    "type": "synonym"
                },
                {
                    "name": "MDR65",
                    "type": "synonym"
                },
                {
                    "name": "Mdr65A",
                    "type": "synonym"
                },
                {
                    "name": "Mdr65",
                    "type": "synonym"
                },
                {
                    "name": "P-glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "P-gp",
                    "type": "synonym"
                },
                {
                    "name": "mdr65",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00748-1",
            "evidence": [
                {
                    "id": "0070223",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070223"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00449-1",
            "uniprot_ac": "Q00449",
            "uniprot_id": "MDR49_DROME",
            "refseq_ac": "NP_001163132",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Multidrug resistance protein homolog 49",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.2",
                    "type": "synonym"
                },
                {
                    "name": "CG3879-PB",
                    "type": "synonym"
                },
                {
                    "name": "Mdr49-PB",
                    "type": "synonym"
                },
                {
                    "name": "P-glycoprotein 49",
                    "type": "synonym"
                },
                {
                    "name": "multi drug resistance 49, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mdr49",
                    "type": "recommended"
                },
                {
                    "name": "CG3879",
                    "type": "synonym"
                },
                {
                    "name": "Dm5",
                    "type": "synonym"
                },
                {
                    "name": "DmMdr49",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3879",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3879",
                    "type": "synonym"
                },
                {
                    "name": "MDR49",
                    "type": "synonym"
                },
                {
                    "name": "MDR5",
                    "type": "synonym"
                },
                {
                    "name": "Mdr49",
                    "type": "synonym"
                },
                {
                    "name": "Mes5",
                    "type": "synonym"
                },
                {
                    "name": "mdr49",
                    "type": "synonym"
                },
                {
                    "name": "mrd49",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00449-1",
            "evidence": [
                {
                    "id": "0070223",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070223"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VRW2-1",
            "uniprot_ac": "Q9VRW2",
            "uniprot_id": "Q9VRW2_DROME",
            "refseq_ac": "NP_648040",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Multidrug resistance protein homolog 65",
                    "type": "recommended"
                },
                {
                    "name": "ABC multidrug transporter",
                    "type": "synonym"
                },
                {
                    "name": "CG10226-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AMT",
                    "type": "recommended"
                },
                {
                    "name": "Dmel\\CG10226",
                    "type": "recommended"
                },
                {
                    "name": "AMT",
                    "type": "synonym"
                },
                {
                    "name": "CG10226",
                    "type": "synonym"
                },
                {
                    "name": "DmCG10226",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10226",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10226",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VRW2-1",
            "evidence": [
                {
                    "id": "0070223",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070223"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070223"
}