{
    "disease_id": "DOID:0070225",
    "recommended_name": {
        "id": "DOID:0070225",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070225",
        "name": "progressive familial intrahepatic cholestasis 5",
        "description": "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q."
    },
    "synonyms": [
        {
            "id": "DOID:0070225",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070225",
            "name": "NR1H4 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0070225",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070225",
            "name": "PFIC5",
            "description": ""
        },
        {
            "id": "MONDO:0014884",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014884",
            "name": "cholestasis, progressive familial intrahepatic, 5",
            "description": "Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene."
        },
        {
            "id": "MONDO:0014884",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014884",
            "name": "NR1H4 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014884",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014884",
            "name": "NR1H4 progressive familial intrahepatic cholestasis",
            "description": ""
        },
        {
            "id": "MONDO:0014884",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014884",
            "name": "PFIC5",
            "description": ""
        },
        {
            "id": "MONDO:0014884",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014884",
            "name": "cholestasis, progressive familial intrahepatic, 5",
            "description": ""
        },
        {
            "id": "MONDO:0014884",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014884",
            "name": "cholestasis, progressive familial intrahepatic, 5; PFIC5",
            "description": ""
        },
        {
            "id": "MONDO:0014884",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014884",
            "name": "cholestasis, progressive familial intrahepatic, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0014884",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014884",
            "name": "progressive familial intrahepatic cholestasis caused by mutation in NR1H4",
            "description": ""
        },
        {
            "id": "MIM:617049",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617049",
            "name": "Cholestasis, progressive familial intrahepatic, 5",
            "description": "Cholestasis, progressive familial intrahepatic, 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070225"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070225",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070225",
            "categories": []
        },
        {
            "id": "MONDO:0014884",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014884",
            "categories": []
        },
        {
            "id": "MIM:617049",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617049",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q60641-1",
            "uniprot_ac": "Q60641",
            "uniprot_id": "NR1H4_MOUSE",
            "refseq_ac": "NP_001156976",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bile acid receptor",
                    "type": "recommended"
                },
                {
                    "name": "Farnesoid X-activated receptor",
                    "type": "synonym"
                },
                {
                    "name": "Farnesol receptor HRR-1",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group H member 4",
                    "type": "synonym"
                },
                {
                    "name": "RXR-interacting protein 14",
                    "type": "synonym"
                },
                {
                    "name": "Retinoid X receptor-interacting protein 14",
                    "type": "synonym"
                },
                {
                    "name": "bile acid receptor isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "bile acid receptor",
                    "type": "synonym"
                },
                {
                    "name": "farnesoid X activated receptor",
                    "type": "synonym"
                },
                {
                    "name": "farnesol receptor HRR-1",
                    "type": "synonym"
                },
                {
                    "name": "retinoid X receptor-interacting protein 14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nr1h4",
                    "type": "recommended"
                },
                {
                    "name": "Bar",
                    "type": "synonym"
                },
                {
                    "name": "Fxr",
                    "type": "synonym"
                },
                {
                    "name": "HRR1",
                    "type": "synonym"
                },
                {
                    "name": "Nr1h4",
                    "type": "synonym"
                },
                {
                    "name": "RIP14",
                    "type": "synonym"
                },
                {
                    "name": "Rip14",
                    "type": "synonym"
                },
                {
                    "name": "Rxrip14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60641-1",
            "evidence": [
                {
                    "id": "0070225",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070225"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96RI1-3",
            "uniprot_ac": "Q96RI1",
            "uniprot_id": "NR1H4_HUMAN",
            "refseq_ac": "NP_001193906",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bile acid receptor",
                    "type": "recommended"
                },
                {
                    "name": "Farnesoid X-activated receptor",
                    "type": "synonym"
                },
                {
                    "name": "Farnesol receptor HRR-1",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group H member 4",
                    "type": "synonym"
                },
                {
                    "name": "RXR-interacting protein 14",
                    "type": "synonym"
                },
                {
                    "name": "Retinoid X receptor-interacting protein 14",
                    "type": "synonym"
                },
                {
                    "name": "bile acid receptor isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "bile acid receptor",
                    "type": "synonym"
                },
                {
                    "name": "farnesoid X nuclear receptor",
                    "type": "synonym"
                },
                {
                    "name": "farnesoid X-activated receptor",
                    "type": "synonym"
                },
                {
                    "name": "farnesol receptor HRR-1",
                    "type": "synonym"
                },
                {
                    "name": "retinoid X receptor-interacting protein 14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NR1H4",
                    "type": "recommended"
                },
                {
                    "name": "BAR",
                    "type": "synonym"
                },
                {
                    "name": "FXR",
                    "type": "synonym"
                },
                {
                    "name": "HRR-1",
                    "type": "synonym"
                },
                {
                    "name": "HRR1",
                    "type": "synonym"
                },
                {
                    "name": "NR1H4",
                    "type": "synonym"
                },
                {
                    "name": "PFIC5",
                    "type": "synonym"
                },
                {
                    "name": "RIP14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96RI1-3",
            "evidence": [
                {
                    "id": "617049",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617049"
                },
                {
                    "id": "0070225",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070225"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62735-1",
            "uniprot_ac": "Q62735",
            "uniprot_id": "NR1H4_RAT",
            "refseq_ac": "NP_068513",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bile acid receptor",
                    "type": "recommended"
                },
                {
                    "name": "Farnesoid X-activated receptor",
                    "type": "synonym"
                },
                {
                    "name": "Farnesol receptor HRR-1",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group H member 4",
                    "type": "synonym"
                },
                {
                    "name": "RXR-interacting protein 14",
                    "type": "synonym"
                },
                {
                    "name": "Retinoid X receptor-interacting protein 14",
                    "type": "synonym"
                },
                {
                    "name": "bile acid receptor isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "bile acid receptor",
                    "type": "synonym"
                },
                {
                    "name": "farnesoid X-activated receptor",
                    "type": "synonym"
                },
                {
                    "name": "farnesol receptor HRR-1",
                    "type": "synonym"
                },
                {
                    "name": "retinoid X receptor-interacting protein 14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nr1h4",
                    "type": "recommended"
                },
                {
                    "name": "Bar",
                    "type": "synonym"
                },
                {
                    "name": "Fxr",
                    "type": "synonym"
                },
                {
                    "name": "Nr1h4",
                    "type": "synonym"
                },
                {
                    "name": "Rip14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62735-1",
            "evidence": [
                {
                    "id": "0070225",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070225"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070225"
}