{
    "disease_id": "DOID:0070226",
    "recommended_name": {
        "id": "DOID:0070226",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070226",
        "name": "progressive familial intrahepatic cholestasis 1",
        "description": "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21."
    },
    "synonyms": [
        {
            "id": "DOID:0070226",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070226",
            "name": "FIC1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0070226",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070226",
            "name": "PFIC1",
            "description": ""
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "progressive familial intrahepatic cholestasis type 1",
            "description": "PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features."
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "Byler disease",
            "description": ""
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "FIC1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "PFIC1",
            "description": ""
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "cholestasis, progressive familial intrahepatic 1",
            "description": ""
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "cholestasis, progressive familial intrahepatic, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "Byler's disease",
            "description": ""
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "cholestasis, fatal intrahepatic",
            "description": ""
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "cholestasis, progressive familial intrahepatic, 1",
            "description": ""
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "progressive familial intrahepatic cholestasis",
            "description": ""
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "severe ATP8B1 deficiency",
            "description": ""
        },
        {
            "id": "MIM:211600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/211600",
            "name": "Cholestasis, progressive familial intrahepatic, 1",
            "description": "Cholestasis, progressive familial intrahepatic, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070226"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070226",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070226",
            "categories": []
        },
        {
            "id": "MONDO:0008892",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "categories": []
        },
        {
            "id": "MIM:211600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/211600",
            "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": "0070226",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070226"
                }
            ]
        },
        {
            "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": "0070226",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070226"
                }
            ]
        },
        {
            "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": "211600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/211600"
                },
                {
                    "id": "0070226",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070226"
                }
            ]
        },
        {
            "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": "0070226",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070226"
                }
            ]
        },
        {
            "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": "0070226",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070226"
                }
            ]
        },
        {
            "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": "0070226",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070226"
                }
            ]
        },
        {
            "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": "0070226",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070226"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070226"
}