{
    "disease_id": "DOID:0070232",
    "recommended_name": {
        "id": "DOID:0070232",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070232",
        "name": "benign recurrent intrahepatic cholestasis 2",
        "description": "A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31."
    },
    "synonyms": [
        {
            "id": "DOID:0070232",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070232",
            "name": "BRIC type 2",
            "description": ""
        },
        {
            "id": "DOID:0070232",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070232",
            "name": "BRIC2",
            "description": ""
        },
        {
            "id": "MONDO:0011559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011559",
            "name": "benign recurrent intrahepatic cholestasis type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011559",
            "name": "BRIC2",
            "description": ""
        },
        {
            "id": "MONDO:0011559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011559",
            "name": "Bric type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011559",
            "name": "cholestasis, benign recurrent intrahepatic, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011559",
            "name": "benign recurrent intrahepatic cholestasis 2",
            "description": ""
        },
        {
            "id": "MONDO:0011559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011559",
            "name": "cholestasis, benign recurrent intrahepatic 2",
            "description": ""
        },
        {
            "id": "MONDO:0011559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011559",
            "name": "cholestasis, benign recurrent intrahepatic, 2",
            "description": ""
        },
        {
            "id": "MONDO:0011559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011559",
            "name": "mild ABCB11 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011559",
            "name": "recurrent familial intrahepatic cholestasis 2",
            "description": ""
        },
        {
            "id": "MIM:605479",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605479",
            "name": "Cholestasis, benign recurrent intrahepatic, 2",
            "description": "Cholestasis, benign recurrent intrahepatic, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070232"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070232",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070232",
            "categories": []
        },
        {
            "id": "MONDO:0011559",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011559",
            "categories": []
        },
        {
            "id": "MIM:605479",
            "database": "MIM",
            "url": "https://www.omim.org/entry/605479",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1RNN7-1",
            "uniprot_ac": "A0A8M1RNN7",
            "uniprot_id": "A0A8M1RNN7_DANRE",
            "refseq_ac": "XP_003199513",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bile salt export pump",
                    "type": "recommended"
                },
                {
                    "name": "bile salt export pump isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "abcb11b",
                    "type": "recommended"
                },
                {
                    "name": "abcb11b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1RNN7-1",
            "evidence": [
                {
                    "id": "0070232",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070232"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1QSX6-1",
            "uniprot_ac": "F1QSX6",
            "uniprot_id": "F1QSX6_DANRE",
            "refseq_ac": "XP_009303249",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bile salt export pump",
                    "type": "synonym"
                },
                {
                    "name": "bile salt export pump",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "abcb11a",
                    "type": "recommended"
                },
                {
                    "name": "abcb11a",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QSX6-1",
            "evidence": [
                {
                    "id": "0070232",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070232"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QY30-1",
            "uniprot_ac": "Q9QY30",
            "uniprot_id": "ABCBB_MOUSE",
            "refseq_ac": "NP_066302",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bile salt export pump",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family B member 11",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family B (MDR/TAP), member 11",
                    "type": "synonym"
                },
                {
                    "name": "Sister of P-glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "bile salt export pump",
                    "type": "synonym"
                },
                {
                    "name": "sister of P-glycoprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Abcb11",
                    "type": "recommended"
                },
                {
                    "name": "ABC16",
                    "type": "synonym"
                },
                {
                    "name": "Abcb11",
                    "type": "synonym"
                },
                {
                    "name": "Bsep",
                    "type": "synonym"
                },
                {
                    "name": "Lith1",
                    "type": "synonym"
                },
                {
                    "name": "PFIC2",
                    "type": "synonym"
                },
                {
                    "name": "PGY4",
                    "type": "synonym"
                },
                {
                    "name": "SPGP",
                    "type": "synonym"
                },
                {
                    "name": "Spgp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QY30-1",
            "evidence": [
                {
                    "id": "0070232",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070232"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95342-1",
            "uniprot_ac": "O95342",
            "uniprot_id": "ABCBB_HUMAN",
            "refseq_ac": "NP_003733",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bile salt export pump",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.-",
                    "type": "synonym"
                },
                {
                    "name": "ABC member 16, MDR/TAP subfamily",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family B member 11",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family B (MDR/TAP), member 11",
                    "type": "synonym"
                },
                {
                    "name": "bile salt export pump",
                    "type": "synonym"
                },
                {
                    "name": "progressive familial intrahepatic cholestasis 2",
                    "type": "synonym"
                },
                {
                    "name": "sister p-glycoprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ABCB11",
                    "type": "recommended"
                },
                {
                    "name": "ABC16",
                    "type": "synonym"
                },
                {
                    "name": "ABCB11",
                    "type": "synonym"
                },
                {
                    "name": "BRIC2",
                    "type": "synonym"
                },
                {
                    "name": "BSEP",
                    "type": "synonym"
                },
                {
                    "name": "PFIC-2",
                    "type": "synonym"
                },
                {
                    "name": "PFIC2",
                    "type": "synonym"
                },
                {
                    "name": "PGY4",
                    "type": "synonym"
                },
                {
                    "name": "SPGP",
                    "type": "synonym"
                }
            ],
            "record_id": "O95342-1",
            "evidence": [
                {
                    "id": "605479",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/605479"
                },
                {
                    "id": "0070232",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070232"
                }
            ]
        },
        {
            "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": "0070232",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070232"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70127-1",
            "uniprot_ac": "O70127",
            "uniprot_id": "ABCBB_RAT",
            "refseq_ac": "NP_113948",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bile salt export pump",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family B member 11",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family B (MDR/TAP), member 11",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, subfamily B (MDR/TAP), member 11",
                    "type": "synonym"
                },
                {
                    "name": "Sister of P-glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "bile salt export pump",
                    "type": "synonym"
                },
                {
                    "name": "sister of P-glycoprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Abcb11",
                    "type": "recommended"
                },
                {
                    "name": "Abcb11",
                    "type": "synonym"
                },
                {
                    "name": "Bsep",
                    "type": "synonym"
                },
                {
                    "name": "Spgp",
                    "type": "synonym"
                }
            ],
            "record_id": "O70127-1",
            "evidence": [
                {
                    "id": "0070232",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070232"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070232"
}