{
    "disease_id": "DOID:0111066",
    "recommended_name": {
        "id": "DOID:0111066",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111066",
        "name": "congenital bile acid synthesis defect 5",
        "description": "A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21."
    },
    "synonyms": [
        {
            "id": "DOID:0111066",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111066",
            "name": "CBAS5",
            "description": ""
        },
        {
            "id": "MONDO:0014564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014564",
            "name": "congenital bile acid synthesis defect 5",
            "description": "Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene."
        },
        {
            "id": "MONDO:0014564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014564",
            "name": "ABCD3 congenital bile acid synthesis defect",
            "description": ""
        },
        {
            "id": "MONDO:0014564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014564",
            "name": "CBAS5",
            "description": ""
        },
        {
            "id": "MONDO:0014564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014564",
            "name": "bile acid synthesis defect, congenital, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0014564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014564",
            "name": "congenital bile acid synthesis defect caused by mutation in ABCD3",
            "description": ""
        },
        {
            "id": "MONDO:0014564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014564",
            "name": "congenital bile acid synthesis defect type 5",
            "description": ""
        },
        {
            "id": "MONDO:0014564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014564",
            "name": "bile acid synthesis defect, congenital, 5",
            "description": ""
        },
        {
            "id": "MIM:616278",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616278",
            "name": "Congenital bile acid synthesis defect 5",
            "description": "Congenital bile acid synthesis defect 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111066"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111066",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111066",
            "categories": []
        },
        {
            "id": "MONDO:0014564",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014564",
            "categories": []
        },
        {
            "id": "MIM:616278",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616278",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PXC6-1",
            "uniprot_ac": "A0A8M9PXC6",
            "uniprot_id": "A0A8M9PXC6_DANRE",
            "refseq_ac": "XP_021325800",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-binding cassette sub-family D member 3",
                    "type": "recommended"
                },
                {
                    "name": "70 kDa peroxisomal membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family D member 3a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "abcd3a",
                    "type": "recommended"
                },
                {
                    "name": "abcd3a",
                    "type": "synonym"
                },
                {
                    "name": "fb59g09",
                    "type": "synonym"
                },
                {
                    "name": "fd60b04",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb59g09",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd60b04",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55740",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PXC6-1",
            "evidence": [
                {
                    "id": "0111066",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111066"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P55096-1",
            "uniprot_ac": "P55096",
            "uniprot_id": "ABCD3_MOUSE",
            "refseq_ac": "NP_033017",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-binding cassette sub-family D member 3",
                    "type": "recommended"
                },
                {
                    "name": "3.1.2.-",
                    "type": "synonym"
                },
                {
                    "name": "68 kDa peroxisomal membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "7.6.2.-",
                    "type": "synonym"
                },
                {
                    "name": "70 kDa peroxisomal membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family D member 3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family D (ALD), member 3",
                    "type": "synonym"
                },
                {
                    "name": "PMP68",
                    "type": "synonym"
                },
                {
                    "name": "PMP70",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal membrane protein 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal membrane protein, 70 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Abcd3",
                    "type": "recommended"
                },
                {
                    "name": "Abcd3",
                    "type": "synonym"
                },
                {
                    "name": "PMP68",
                    "type": "synonym"
                },
                {
                    "name": "PMP70",
                    "type": "synonym"
                },
                {
                    "name": "Pmp70",
                    "type": "synonym"
                },
                {
                    "name": "Pxmp1",
                    "type": "synonym"
                }
            ],
            "record_id": "P55096-1",
            "evidence": [
                {
                    "id": "0111066",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111066"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28288-1",
            "uniprot_ac": "P28288",
            "uniprot_id": "ABCD3_HUMAN",
            "refseq_ac": "NP_001116146",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-binding cassette sub-family D member 3",
                    "type": "recommended"
                },
                {
                    "name": "3.1.2.-",
                    "type": "synonym"
                },
                {
                    "name": "7.6.2.-",
                    "type": "synonym"
                },
                {
                    "name": "70 kDa peroxisomal membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family D member 3 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family D member 3",
                    "type": "synonym"
                },
                {
                    "name": "PMP70",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal membrane protein-1 (70kD)",
                    "type": "synonym"
                },
                {
                    "name": "dJ824O18.1 (ATP-binding cassette, sub-family D (ALD), member 3 (PMP70, PXMP1))",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal membrane protein 1 (70kD, Zellweger syndrome)",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal membrane protein 70 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ABCD3",
                    "type": "recommended"
                },
                {
                    "name": "ABC43",
                    "type": "synonym"
                },
                {
                    "name": "ABCD3",
                    "type": "synonym"
                },
                {
                    "name": "CBAS5",
                    "type": "synonym"
                },
                {
                    "name": "OPDM5",
                    "type": "synonym"
                },
                {
                    "name": "PMP70",
                    "type": "synonym"
                },
                {
                    "name": "PXMP1",
                    "type": "synonym"
                },
                {
                    "name": "ZWS2",
                    "type": "synonym"
                }
            ],
            "record_id": "P28288-1",
            "evidence": [
                {
                    "id": "616278",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616278"
                },
                {
                    "id": "0111066",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111066"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41909-1",
            "uniprot_ac": "P41909",
            "uniprot_id": "PXA1_YEAST",
            "refseq_ac": "NP_015178",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal long-chain fatty acid import protein 2",
                    "type": "recommended"
                },
                {
                    "name": "ATP-binding cassette long-chain fatty acid transporter PXA1",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal ABC transporter 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PXA1",
                    "type": "recommended"
                },
                {
                    "name": "LPI1W",
                    "type": "synonym"
                },
                {
                    "name": "LPI1",
                    "type": "synonym"
                },
                {
                    "name": "P2607",
                    "type": "synonym"
                },
                {
                    "name": "PAL1",
                    "type": "synonym"
                },
                {
                    "name": "PAT2",
                    "type": "synonym"
                },
                {
                    "name": "PXA1",
                    "type": "synonym"
                },
                {
                    "name": "SSH2",
                    "type": "synonym"
                }
            ],
            "record_id": "P41909-1",
            "evidence": [
                {
                    "id": "0111066",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111066"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16970-1",
            "uniprot_ac": "P16970",
            "uniprot_id": "ABCD3_RAT",
            "refseq_ac": "NP_036936",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-binding cassette sub-family D member 3",
                    "type": "recommended"
                },
                {
                    "name": "3.1.2.-",
                    "type": "synonym"
                },
                {
                    "name": "7.6.2.-",
                    "type": "synonym"
                },
                {
                    "name": "70 kDa peroxisomal membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "70-kDa peroxisomal membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family D member 3",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family D (ALD), member 3",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, subfamily D (ALD), member 3",
                    "type": "synonym"
                },
                {
                    "name": "PMP70",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal membrane protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Abcd3",
                    "type": "recommended"
                },
                {
                    "name": "Abcd3",
                    "type": "synonym"
                },
                {
                    "name": "PMP70",
                    "type": "synonym"
                },
                {
                    "name": "Pmp70",
                    "type": "synonym"
                },
                {
                    "name": "Pxmp1",
                    "type": "synonym"
                }
            ],
            "record_id": "P16970-1",
            "evidence": [
                {
                    "id": "0111066",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111066"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VWC8-1",
            "uniprot_ac": "Q9VWC8",
            "uniprot_id": "Q9VWC8_DROME",
            "refseq_ac": "NP_001259732",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-binding cassette sub-family D member 3",
                    "type": "recommended"
                },
                {
                    "name": "70 kDa peroxisomal membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "ATP binding cassette subfamily D member 3, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Abcd3-PB",
                    "type": "synonym"
                },
                {
                    "name": "CG12703-PB",
                    "type": "synonym"
                },
                {
                    "name": "Pmp70",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal membrane protein 70 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Abcd3",
                    "type": "recommended"
                },
                {
                    "name": "ABCD3",
                    "type": "synonym"
                },
                {
                    "name": "ABCD",
                    "type": "synonym"
                },
                {
                    "name": "Abcd3",
                    "type": "synonym"
                },
                {
                    "name": "CG12703",
                    "type": "synonym"
                },
                {
                    "name": "DmCG12703",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12703",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12703",
                    "type": "synonym"
                },
                {
                    "name": "PMP70",
                    "type": "synonym"
                },
                {
                    "name": "Pmp70",
                    "type": "synonym"
                },
                {
                    "name": "i17",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VWC8-1",
            "evidence": [
                {
                    "id": "0111066",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111066"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111066"
}