{
    "disease_id": "DOID:0070231",
    "recommended_name": {
        "id": "DOID:0070231",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070231",
        "name": "benign recurrent intrahepatic cholestasis 1",
        "description": "A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q."
    },
    "synonyms": [
        {
            "id": "DOID:0070231",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070231",
            "name": "BRIC type 1",
            "description": ""
        },
        {
            "id": "DOID:0070231",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070231",
            "name": "BRIC1",
            "description": ""
        },
        {
            "id": "DOID:0070231",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070231",
            "name": "Summerskill syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009469",
            "name": "benign recurrent intrahepatic cholestasis type 1",
            "description": "Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity."
        },
        {
            "id": "MONDO:0009469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009469",
            "name": "cholestasis, benign recurrent intrahepatic",
            "description": ""
        },
        {
            "id": "MONDO:0009469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009469",
            "name": "ATP8B1 benign recurrent intrahepatic cholestasis",
            "description": ""
        },
        {
            "id": "MONDO:0009469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009469",
            "name": "BRIC1",
            "description": ""
        },
        {
            "id": "MONDO:0009469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009469",
            "name": "Bric type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009469",
            "name": "benign recurrent intrahepatic cholestasis caused by mutation in ATP8B1",
            "description": ""
        },
        {
            "id": "MONDO:0009469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009469",
            "name": "cholestasis, benign recurrent intrahepatic, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009469",
            "name": "Summerskill syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009469",
            "name": "benign recurrent intrahepatic cholestasis 1",
            "description": ""
        },
        {
            "id": "MONDO:0009469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009469",
            "name": "cholestasis, benign recurrent intrahepatic 1",
            "description": ""
        },
        {
            "id": "MONDO:0009469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009469",
            "name": "cholestasis, benign recurrent intrahepatic, 1",
            "description": ""
        },
        {
            "id": "MONDO:0009469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009469",
            "name": "mild ATP8B1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009469",
            "name": "recurrent familial intrahepatic cholestasis 1",
            "description": ""
        },
        {
            "id": "MIM:243300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/243300",
            "name": "Cholestasis, benign recurrent intrahepatic, 1",
            "description": "Cholestasis, benign recurrent intrahepatic, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070231"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070231",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070231",
            "categories": []
        },
        {
            "id": "MONDO:0009469",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009469",
            "categories": []
        },
        {
            "id": "MIM:243300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/243300",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FFK0-1",
            "uniprot_ac": "E7FFK0",
            "uniprot_id": "E7FFK0_DANRE",
            "refseq_ac": "XP_001920510",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipid-transporting ATPase",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid-transporting ATPase IC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atp8b1",
                    "type": "recommended"
                },
                {
                    "name": "atp8b1",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FFK0-1",
            "evidence": [
                {
                    "id": "0070231",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070231"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q148W0-1",
            "uniprot_ac": "Q148W0",
            "uniprot_id": "AT8B1_MOUSE",
            "refseq_ac": "NP_001001488",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipid-transporting ATPase IC",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "ATPase 8B1, p type",
                    "type": "synonym"
                },
                {
                    "name": "ATPase B1, class I",
                    "type": "synonym"
                },
                {
                    "name": "ATPase class I type 8B member 1",
                    "type": "synonym"
                },
                {
                    "name": "P4-ATPase flippase complex alpha subunit ATP8B1",
                    "type": "synonym"
                },
                {
                    "name": "aminophospholipid translocase",
                    "type": "synonym"
                },
                {
                    "name": "familial intrahepatic cholestasis type I",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid-transporting ATPase IC",
                    "type": "synonym"
                },
                {
                    "name": "probable phospholipid-transporting ATPase IC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp8b1",
                    "type": "recommended"
                },
                {
                    "name": "Atp8b1",
                    "type": "synonym"
                },
                {
                    "name": "FIC1",
                    "type": "synonym"
                },
                {
                    "name": "Ic",
                    "type": "synonym"
                }
            ],
            "record_id": "Q148W0-1",
            "evidence": [
                {
                    "id": "0070231",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070231"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43520-1",
            "uniprot_ac": "O43520",
            "uniprot_id": "AT8B1_HUMAN",
            "refseq_ac": "NP_001361314",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipid-transporting ATPase IC",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "ATPase class I type 8B member 1",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, aminophospholipid transporter, class I, type 8B, member 1",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, class I, type 8B, member 1",
                    "type": "synonym"
                },
                {
                    "name": "E1-E2 ATPase",
                    "type": "synonym"
                },
                {
                    "name": "Familial intrahepatic cholestasis type 1",
                    "type": "synonym"
                },
                {
                    "name": "P4-ATPase flippase complex alpha subunit ATP8B1",
                    "type": "synonym"
                },
                {
                    "name": "familial intrahepatic cholestasis type 1",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid-transporting ATPase IC isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid-transporting ATPase IC",
                    "type": "synonym"
                },
                {
                    "name": "probable phospholipid-transporting ATPase IC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP8B1",
                    "type": "recommended"
                },
                {
                    "name": "ATP8B1",
                    "type": "synonym"
                },
                {
                    "name": "ATPIC",
                    "type": "synonym"
                },
                {
                    "name": "BRIC",
                    "type": "synonym"
                },
                {
                    "name": "FIC1",
                    "type": "synonym"
                },
                {
                    "name": "ICP1",
                    "type": "synonym"
                },
                {
                    "name": "PFIC1",
                    "type": "synonym"
                },
                {
                    "name": "PFIC",
                    "type": "synonym"
                }
            ],
            "record_id": "O43520-1",
            "evidence": [
                {
                    "id": "243300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/243300"
                },
                {
                    "id": "0070231",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070231"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32660-1",
            "uniprot_ac": "P32660",
            "uniprot_id": "ATC5_YEAST",
            "refseq_ac": "NP_011093",
            "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": "Phospholipid-transporting ATPase DNF1",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "Flippase DNF1",
                    "type": "synonym"
                },
                {
                    "name": "aminophospholipid-translocating P4-type ATPase DNF1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNF1",
                    "type": "recommended"
                },
                {
                    "name": "DNF1",
                    "type": "synonym"
                },
                {
                    "name": "SYGP-ORF7",
                    "type": "synonym"
                }
            ],
            "record_id": "P32660-1",
            "evidence": [
                {
                    "id": "0070231",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070231"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4AA47-1",
            "uniprot_ac": "D4AA47",
            "uniprot_id": "AT8B1_RAT",
            "refseq_ac": "NP_001424194",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipid-transporting ATPase IC",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "ATPase class I type 8B member 1",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, Class I, type 8B, member 1",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, aminophospholipid transporter, class I, type 8B, member 1",
                    "type": "synonym"
                },
                {
                    "name": "P4-ATPase flippase complex alpha subunit ATP8B1",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid-transporting ATPase IC",
                    "type": "synonym"
                },
                {
                    "name": "probable phospholipid-transporting ATPase IC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp8b1",
                    "type": "recommended"
                },
                {
                    "name": "Atp8b1",
                    "type": "synonym"
                }
            ],
            "record_id": "D4AA47-1",
            "evidence": [
                {
                    "id": "0070231",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070231"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07647-1",
            "uniprot_ac": "Q07647",
            "uniprot_id": "GTR3_RAT",
            "refseq_ac": "NP_058798",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 2, facilitated glucose transporter member 3",
                    "type": "recommended"
                },
                {
                    "name": "GLUT-3",
                    "type": "synonym"
                },
                {
                    "name": "Glucose transporter type 3, brain",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 2 A3 (neuron glucose transporter)",
                    "type": "synonym"
                },
                {
                    "name": "glucose transporter type 3, brain",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 2 (facilitated glucose transporter), member 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 2, facilitated glucose transporter member 3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 2, facilitated glucose transporter member 3-like",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 2, member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc2a3",
                    "type": "recommended"
                },
                {
                    "name": "GLUT3",
                    "type": "synonym"
                },
                {
                    "name": "Glut3",
                    "type": "synonym"
                },
                {
                    "name": "Slc2a3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07647-1",
            "evidence": [
                {
                    "id": "0070231",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070231"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VGD4-1",
            "uniprot_ac": "Q9VGD4",
            "uniprot_id": "Q9VGD4_DROME",
            "refseq_ac": "NP_731669",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipid-transporting ATPase",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "ATP8B-PB",
                    "type": "synonym"
                },
                {
                    "name": "ATPase 8B, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "CG14741-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP8B",
                    "type": "recommended"
                },
                {
                    "name": "ATP8B",
                    "type": "synonym"
                },
                {
                    "name": "CG14741",
                    "type": "synonym"
                },
                {
                    "name": "DmCG14741",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14741",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14741",
                    "type": "synonym"
                },
                {
                    "name": "atp8b",
                    "type": "synonym"
                },
                {
                    "name": "dATP8B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VGD4-1",
            "evidence": [
                {
                    "id": "0070231",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070231"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070231"
}