{
    "disease_id": "DOID:0111068",
    "recommended_name": {
        "id": "DOID:0111068",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111068",
        "name": "congenital bile acid synthesis defect 4",
        "description": "A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13."
    },
    "synonyms": [
        {
            "id": "DOID:0111068",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111068",
            "name": "CBAS4",
            "description": ""
        },
        {
            "id": "DOID:0111068",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111068",
            "name": "trihydroxycoprostanic acid in bile",
            "description": ""
        },
        {
            "id": "DOID:0111068",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111068",
            "name": "intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid",
            "description": ""
        },
        {
            "id": "MONDO:0008967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008967",
            "name": "congenital bile acid synthesis defect 4",
            "description": "An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease."
        },
        {
            "id": "MONDO:0008967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008967",
            "name": "AMACR deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008967",
            "name": "2-methylacyl-CoA racemase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008967",
            "name": "Alpha-methyl-acyl-CoA racemase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008967",
            "name": "BAS defect type 4",
            "description": ""
        },
        {
            "id": "MONDO:0008967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008967",
            "name": "BASD4",
            "description": ""
        },
        {
            "id": "MONDO:0008967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008967",
            "name": "CBAS4",
            "description": ""
        },
        {
            "id": "MONDO:0008967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008967",
            "name": "bile acid synthesis defect, congenital, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0008967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008967",
            "name": "congenital bile acid synthesis defect 4",
            "description": ""
        },
        {
            "id": "MONDO:0008967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008967",
            "name": "congenital bile acid synthesis defect type 4",
            "description": ""
        },
        {
            "id": "MONDO:0008967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008967",
            "name": "liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008967",
            "name": "Trihydroxycoprostanic acid to cholic acid",
            "description": ""
        },
        {
            "id": "MONDO:0008967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008967",
            "name": "bile acid synthesis defect, congenital, 4",
            "description": ""
        },
        {
            "id": "MONDO:0008967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008967",
            "name": "cholestasis, intrahepatic, with defective conversion of",
            "description": ""
        },
        {
            "id": "MIM:214950",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/214950",
            "name": "Congenital bile acid synthesis defect 4",
            "description": "Congenital bile acid synthesis defect 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111068"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111068",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111068",
            "categories": []
        },
        {
            "id": "MONDO:0008967",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008967",
            "categories": []
        },
        {
            "id": "MIM:214950",
            "database": "MIM",
            "url": "https://www.omim.org/entry/214950",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O09174-1",
            "uniprot_ac": "O09174",
            "uniprot_id": "AMACR_MOUSE",
            "refseq_ac": "NP_032563",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-methylacyl-CoA racemase",
                    "type": "recommended"
                },
                {
                    "name": "2-arylpropionyl-CoA epimerase",
                    "type": "synonym"
                },
                {
                    "name": "2-methylacyl-CoA racemase",
                    "type": "synonym"
                },
                {
                    "name": "5.1.99.4",
                    "type": "synonym"
                },
                {
                    "name": "alpha-methylacyl-CoA racemase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-methylacyl-Coenzyme A racemase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Amacr",
                    "type": "recommended"
                },
                {
                    "name": "Amacr",
                    "type": "synonym"
                },
                {
                    "name": "Macr1",
                    "type": "synonym"
                }
            ],
            "record_id": "O09174-1",
            "evidence": [
                {
                    "id": "0111068",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111068"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UHK6-1",
            "uniprot_ac": "Q9UHK6",
            "uniprot_id": "AMACR_HUMAN",
            "refseq_ac": "NP_001161067",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-methylacyl-CoA racemase",
                    "type": "recommended"
                },
                {
                    "name": "2-methylacyl-CoA racemase",
                    "type": "synonym"
                },
                {
                    "name": "5.1.99.4",
                    "type": "synonym"
                },
                {
                    "name": "alpha-methylacyl-CoA racemase isoform 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AMACR",
                    "type": "recommended"
                },
                {
                    "name": "AMACRD",
                    "type": "synonym"
                },
                {
                    "name": "AMACR",
                    "type": "synonym"
                },
                {
                    "name": "CBAS4",
                    "type": "synonym"
                },
                {
                    "name": "P504S",
                    "type": "synonym"
                },
                {
                    "name": "RACE",
                    "type": "synonym"
                },
                {
                    "name": "RM",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UHK6-1",
            "evidence": [
                {
                    "id": "214950",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/214950"
                },
                {
                    "id": "0111068",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111068"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70473-1",
            "uniprot_ac": "P70473",
            "uniprot_id": "AMACR_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-methylacyl-CoA racemase",
                    "type": "recommended"
                },
                {
                    "name": "2-arylpropionyl-CoA epimerase",
                    "type": "synonym"
                },
                {
                    "name": "2-methylacyl-CoA racemase",
                    "type": "synonym"
                },
                {
                    "name": "5.1.99.4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Amacr",
                    "type": "recommended"
                }
            ],
            "record_id": "P70473-1",
            "evidence": [
                {
                    "id": "0111068",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111068"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VIK0-1",
            "uniprot_ac": "Q9VIK0",
            "uniprot_id": "Q9VIK0_DROME",
            "refseq_ac": "NP_001260638",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "5.1.99.4",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-methylacyl-CoA racemase, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-methylacyl-CoA racemase, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Amacr-PB",
                    "type": "synonym"
                },
                {
                    "name": "CG9319-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Amacr",
                    "type": "recommended"
                },
                {
                    "name": "38E.13",
                    "type": "synonym"
                },
                {
                    "name": "AMACR",
                    "type": "synonym"
                },
                {
                    "name": "Amacr",
                    "type": "synonym"
                },
                {
                    "name": "CG9319",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9319",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9319",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VIK0-1",
            "evidence": [
                {
                    "id": "0111068",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111068"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02413-1",
            "uniprot_ac": "Q02413",
            "uniprot_id": "DSG1_HUMAN",
            "refseq_ac": "NP_001933",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmoglein-1",
                    "type": "recommended"
                },
                {
                    "name": "Cadherin family member 4",
                    "type": "synonym"
                },
                {
                    "name": "DG1",
                    "type": "synonym"
                },
                {
                    "name": "DGI",
                    "type": "synonym"
                },
                {
                    "name": "Desmosomal glycoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "Pemphigus foliaceus antigen",
                    "type": "synonym"
                },
                {
                    "name": "cadherin family member 4",
                    "type": "synonym"
                },
                {
                    "name": "desmoglein-1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "desmosomal glycoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "pemphigus foliaceus antigen",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DSG1",
                    "type": "recommended"
                },
                {
                    "name": "CDHF4",
                    "type": "synonym"
                },
                {
                    "name": "DG1",
                    "type": "synonym"
                },
                {
                    "name": "DSG1",
                    "type": "synonym"
                },
                {
                    "name": "DSG",
                    "type": "synonym"
                },
                {
                    "name": "EPKHE",
                    "type": "synonym"
                },
                {
                    "name": "EPKHIA",
                    "type": "synonym"
                },
                {
                    "name": "PPKS1",
                    "type": "synonym"
                },
                {
                    "name": "SPPK1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02413-1",
            "evidence": [
                {
                    "id": "0111068",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111068"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111068"
}