{
    "disease_id": "DOID:0111071",
    "recommended_name": {
        "id": "DOID:0111071",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111071",
        "name": "congenital bile acid synthesis defect 1",
        "description": "A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p."
    },
    "synonyms": [
        {
            "id": "DOID:0111071",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111071",
            "name": "CBAS1",
            "description": ""
        },
        {
            "id": "MONDO:0011906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011906",
            "name": "congenital bile acid synthesis defect 1",
            "description": "Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption."
        },
        {
            "id": "MONDO:0011906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011906",
            "name": "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011906",
            "name": "BASD1",
            "description": ""
        },
        {
            "id": "MONDO:0011906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011906",
            "name": "CBAS1",
            "description": ""
        },
        {
            "id": "MONDO:0011906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011906",
            "name": "HSD3B7 congenital bile acid synthesis defect",
            "description": ""
        },
        {
            "id": "MONDO:0011906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011906",
            "name": "bile acid synthesis defect, congenital, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011906",
            "name": "congenital bile acid synthesis defect 1",
            "description": ""
        },
        {
            "id": "MONDO:0011906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011906",
            "name": "congenital bile acid synthesis defect caused by mutation in HSD3B7",
            "description": ""
        },
        {
            "id": "MONDO:0011906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011906",
            "name": "congenital bile acid synthesis defect type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011906",
            "name": "3-alpha beta-hydroxy-delta-5-C27-steroid oxidoreductase, deficiency of",
            "description": ""
        },
        {
            "id": "MONDO:0011906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011906",
            "name": "bile acid synthesis defect, congenital, 1",
            "description": ""
        },
        {
            "id": "MONDO:0011906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011906",
            "name": "congenital bile acid synthesis defect, type 1",
            "description": ""
        },
        {
            "id": "MIM:607765",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607765",
            "name": "Congenital bile acid synthesis defect 1",
            "description": "Congenital bile acid synthesis defect 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111071"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111071",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111071",
            "categories": []
        },
        {
            "id": "MONDO:0011906",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011906",
            "categories": []
        },
        {
            "id": "MIM:607765",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607765",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9EQC1-1",
            "uniprot_ac": "Q9EQC1",
            "uniprot_id": "3BHS7_MOUSE",
            "refseq_ac": "NP_598704",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "3 beta-hydroxysteroid dehydrogenase type 7",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.181",
                    "type": "synonym"
                },
                {
                    "name": "3 beta-hydroxysteroid dehydrogenase type 7 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "3 beta-hydroxysteroid dehydrogenase type 7",
                    "type": "synonym"
                },
                {
                    "name": "3 beta-hydroxysteroid dehydrogenase type VII",
                    "type": "synonym"
                },
                {
                    "name": "3-beta-HSD VII",
                    "type": "synonym"
                },
                {
                    "name": "3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase",
                    "type": "synonym"
                },
                {
                    "name": "C(27) 3-beta-HSD",
                    "type": "synonym"
                },
                {
                    "name": "Cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "c(27) 3-beta-HSD",
                    "type": "synonym"
                },
                {
                    "name": "cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hsd3b7",
                    "type": "recommended"
                },
                {
                    "name": "Hsd3b7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EQC1-1",
            "evidence": [
                {
                    "id": "0111071",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111071"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H2F3-1",
            "uniprot_ac": "Q9H2F3",
            "uniprot_id": "3BHS7_HUMAN",
            "refseq_ac": "NP_001136249",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "3 beta-hydroxysteroid dehydrogenase type 7",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.181",
                    "type": "synonym"
                },
                {
                    "name": "3 beta-hydroxy-delta 5-C27-steroid oxidoreductase",
                    "type": "synonym"
                },
                {
                    "name": "3 beta-hydroxysteroid dehydrogenase type 7 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "3 beta-hydroxysteroid dehydrogenase type 7",
                    "type": "synonym"
                },
                {
                    "name": "3 beta-hydroxysteroid dehydrogenase type VII",
                    "type": "synonym"
                },
                {
                    "name": "3-beta-HSD VII",
                    "type": "synonym"
                },
                {
                    "name": "3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase",
                    "type": "synonym"
                },
                {
                    "name": "C(27) 3-beta-HSD",
                    "type": "synonym"
                },
                {
                    "name": "C(27)-3BETA-HSD",
                    "type": "synonym"
                },
                {
                    "name": "Cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "c(27) 3-beta-HSD",
                    "type": "synonym"
                },
                {
                    "name": "cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "short chain dehydrogenase/reductase family 11E, member 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HSD3B7",
                    "type": "recommended"
                },
                {
                    "name": "CBAS1",
                    "type": "synonym"
                },
                {
                    "name": "HSD3B7",
                    "type": "synonym"
                },
                {
                    "name": "PFIC4",
                    "type": "synonym"
                },
                {
                    "name": "SDR11E3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H2F3-1",
            "evidence": [
                {
                    "id": "607765",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607765"
                },
                {
                    "id": "0111071",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111071"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35048-1",
            "uniprot_ac": "O35048",
            "uniprot_id": "3BHS7_RAT",
            "refseq_ac": "NP_647545",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "3 beta-hydroxysteroid dehydrogenase type 7",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.181",
                    "type": "synonym"
                },
                {
                    "name": "3 beta-hydroxysteroid dehydrogenase type 7 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "3 beta-hydroxysteroid dehydrogenase type 7",
                    "type": "synonym"
                },
                {
                    "name": "3 beta-hydroxysteroid dehydrogenase type VII",
                    "type": "synonym"
                },
                {
                    "name": "3-beta-HSD VII",
                    "type": "synonym"
                },
                {
                    "name": "3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase",
                    "type": "synonym"
                },
                {
                    "name": "C(27) 3-beta-HSD",
                    "type": "synonym"
                },
                {
                    "name": "Cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Confluent 3Y1 cell-associated 2",
                    "type": "synonym"
                },
                {
                    "name": "c(27) 3-beta-HSD",
                    "type": "synonym"
                },
                {
                    "name": "cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "confluent 3Y1 cell-associated 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hsd3b7",
                    "type": "recommended"
                },
                {
                    "name": "Cca2",
                    "type": "synonym"
                },
                {
                    "name": "Hsd3b7",
                    "type": "synonym"
                }
            ],
            "record_id": "O35048-1",
            "evidence": [
                {
                    "id": "0111071",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111071"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VVE3-1",
            "uniprot_ac": "Q9VVE3",
            "uniprot_id": "Q9VVE3_DROME",
            "refseq_ac": "NP_648957",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "3-beta hydroxysteroid dehydrogenase/isomerase domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG7724-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG7724",
                    "type": "recommended"
                },
                {
                    "name": "CG7724",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7724",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7724",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VVE3-1",
            "evidence": [
                {
                    "id": "0111071",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111071"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111071"
}