{
    "disease_id": "DOID:0111070",
    "recommended_name": {
        "id": "DOID:0111070",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111070",
        "name": "congenital bile acid synthesis defect 3",
        "description": "A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12."
    },
    "synonyms": [
        {
            "id": "DOID:0111070",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111070",
            "name": "CBAS3",
            "description": ""
        },
        {
            "id": "DOID:0111070",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111070",
            "name": "oxysterol 7-alpha-hydroxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013439",
            "name": "congenital bile acid synthesis defect 3",
            "description": "Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease."
        },
        {
            "id": "MONDO:0013439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013439",
            "name": "BASD3",
            "description": ""
        },
        {
            "id": "MONDO:0013439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013439",
            "name": "CBAS3",
            "description": ""
        },
        {
            "id": "MONDO:0013439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013439",
            "name": "CYP7B1 congenital bile acid synthesis defect",
            "description": ""
        },
        {
            "id": "MONDO:0013439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013439",
            "name": "bile acid synthesis defect, congenital, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013439",
            "name": "congenital bile acid synthesis defect caused by mutation in CYP7B1",
            "description": ""
        },
        {
            "id": "MONDO:0013439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013439",
            "name": "congenital bile acid synthesis defect type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013439",
            "name": "oxysterol 7-alpha-hydroxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013439",
            "name": "bile acid synthesis defect, congenital, 3",
            "description": ""
        },
        {
            "id": "MIM:613812",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613812",
            "name": "Congenital bile acid synthesis defect 3",
            "description": "Congenital bile acid synthesis defect 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111070"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111070",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111070",
            "categories": []
        },
        {
            "id": "MONDO:0013439",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013439",
            "categories": []
        },
        {
            "id": "MIM:613812",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613812",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B5U4-1",
            "uniprot_ac": "A0ACD6B5U4",
            "uniprot_id": "A0ACD6B5U4_DANRE",
            "refseq_ac": "XP_699028",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 7B1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 7B1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cyp7b1",
                    "type": "recommended"
                },
                {
                    "name": "cyp7b1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B5U4-1",
            "evidence": [
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                    "id": "0111070",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111070"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q60991-1",
            "uniprot_ac": "Q60991",
            "uniprot_id": "CP7B1_MOUSE",
            "refseq_ac": "NP_031851",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 7B1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.26",
                    "type": "synonym"
                },
                {
                    "name": "1.14.14.29",
                    "type": "synonym"
                },
                {
                    "name": "24-hydroxycholesterol 7-alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "25-hydroxycholesterol 7-alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "25/26-hydroxycholesterol 7-alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxysteroid 7-alpha hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "HCT-1",
                    "type": "synonym"
                },
                {
                    "name": "Hippocampal transcript 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Oxysterol 7-alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 7B1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 7B1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, 7b1",
                    "type": "synonym"
                },
                {
                    "name": "hippocampal transcript 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "oxysterol 7-alpha-hydroxylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyp7b1",
                    "type": "recommended"
                },
                {
                    "name": "Cyp7b1",
                    "type": "synonym"
                },
                {
                    "name": "D3Ertd552e",
                    "type": "synonym"
                },
                {
                    "name": "hct-1",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0111070",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111070"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75881-1",
            "uniprot_ac": "O75881",
            "uniprot_id": "CP7B1_HUMAN",
            "refseq_ac": "NP_004811",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 7B1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.26",
                    "type": "synonym"
                },
                {
                    "name": "1.14.14.29",
                    "type": "synonym"
                },
                {
                    "name": "24-hydroxycholesterol 7-alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "25-hydroxycholesterol 7-alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "25/26-hydroxycholesterol 7-alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxysteroid 7-alpha hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "Oxysterol 7-alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 7B1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 7B1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "oxysterol 7-alpha-hydroxylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYP7B1",
                    "type": "recommended"
                },
                {
                    "name": "CBAS3",
                    "type": "synonym"
                },
                {
                    "name": "CP7B",
                    "type": "synonym"
                },
                {
                    "name": "CYP7B1",
                    "type": "synonym"
                },
                {
                    "name": "SPG5A",
                    "type": "synonym"
                }
            ],
            "record_id": "O75881-1",
            "evidence": [
                {
                    "id": "613812",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613812"
                },
                {
                    "id": "0111070",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111070"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63688-1",
            "uniprot_ac": "Q63688",
            "uniprot_id": "CP7B1_RAT",
            "refseq_ac": "NP_062011",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "25-hydroxycholesterol 7-alpha-hydroxylase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.29",
                    "type": "synonym"
                },
                {
                    "name": "25-hydroxycholesterol 7-alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450 7B1",
                    "type": "synonym"
                },
                {
                    "name": "HCT-1",
                    "type": "synonym"
                },
                {
                    "name": "Hippocampal transcript 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Oxysterol 7-alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 7B1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, family 7, subfamily b, polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, subfamily 7B, polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "hippocampal transcript 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "oxysterol 7-alpha-hydroxylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyp7b1",
                    "type": "recommended"
                },
                {
                    "name": "Cyp7b1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63688-1",
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                {
                    "id": "0111070",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111070"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18088-1",
            "uniprot_ac": "P18088",
            "uniprot_id": "DCE1_RAT",
            "refseq_ac": "NP_058703",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamate decarboxylase 1",
                    "type": "recommended"
                },
                {
                    "name": "4.1.1.15",
                    "type": "synonym"
                },
                {
                    "name": "67 kDa glutamic acid decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "GAD-67",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate decarboxylase 1 (brain)",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate decarboxylase 67 kDa isoform",
                    "type": "synonym"
                },
                {
                    "name": "glutamate decarboxylase 1 variant GAD67NT",
                    "type": "synonym"
                },
                {
                    "name": "glutamate decarboxylase 1",
                    "type": "synonym"
                },
                {
                    "name": "glutamic acid decarboxylase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gad1",
                    "type": "recommended"
                },
                {
                    "name": "Gad1",
                    "type": "synonym"
                },
                {
                    "name": "Gad67",
                    "type": "synonym"
                }
            ],
            "record_id": "P18088-1",
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                {
                    "id": "0111070",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111070"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q05048-1",
            "uniprot_ac": "Q05048",
            "uniprot_id": "CSTF1_HUMAN",
            "refseq_ac": "NP_001028693",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cleavage stimulation factor subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "CF-1 50 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "CSTF 50 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Cleavage stimulation factor 50 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "CstF-50",
                    "type": "synonym"
                },
                {
                    "name": "cleavage stimulation factor 50 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "cleavage stimulation factor subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa",
                    "type": "synonym"
                },
                {
                    "name": "cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CSTF1",
                    "type": "recommended"
                },
                {
                    "name": "CSTF1",
                    "type": "synonym"
                },
                {
                    "name": "CstF-50",
                    "type": "synonym"
                },
                {
                    "name": "CstFp50",
                    "type": "synonym"
                }
            ],
            "record_id": "Q05048-1",
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                {
                    "id": "0111070",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111070"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111070"
}