{
    "disease_id": "DOID:0061180",
    "recommended_name": {
        "id": "DOID:0061180",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061180",
        "name": "familial hypercholanemia 3",
        "description": "A steroid inherited metabolic disorder characterized by onset of symptoms, including jaundice and failure to thrive, in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the BAAT gene on chromosome 9q31."
    },
    "synonyms": [
        {
            "id": "MONDO:0030991",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030991",
            "name": "bile acid conjugation defect 1",
            "description": ""
        },
        {
            "id": "MONDO:0030991",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030991",
            "name": "BACD1",
            "description": ""
        },
        {
            "id": "MIM:619232",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619232",
            "name": "Hypercholanemia, familial 3",
            "description": "Hypercholanemia, familial 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061180"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061180",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061180",
            "categories": []
        },
        {
            "id": "MONDO:0030991",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030991",
            "categories": []
        },
        {
            "id": "MIM:619232",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619232",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q91X34-1",
            "uniprot_ac": "Q91X34",
            "uniprot_id": "BAAT_MOUSE",
            "refseq_ac": "NP_031545",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bile acid-CoA:amino acid N-acyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.65",
                    "type": "synonym"
                },
                {
                    "name": "3.1.2.27",
                    "type": "synonym"
                },
                {
                    "name": "3.1.2.2",
                    "type": "synonym"
                },
                {
                    "name": "BACAT",
                    "type": "synonym"
                },
                {
                    "name": "BAT",
                    "type": "synonym"
                },
                {
                    "name": "Bile acid-CoA thioesterase",
                    "type": "synonym"
                },
                {
                    "name": "Choloyl-CoA hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Glycine N-choloyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Long-chain fatty-acyl-CoA hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "bile acid-CoA thioesterase",
                    "type": "synonym"
                },
                {
                    "name": "bile acid-CoA:amino acid N-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "bile acid-Coenzyme A dehydrogenase: amino acid n-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "choloyl-CoA hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "glycine N-choloyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "long-chain fatty-acyl-CoA hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "taurine N-acyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Baat",
                    "type": "recommended"
                },
                {
                    "name": "BAT",
                    "type": "synonym"
                },
                {
                    "name": "Baat",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91X34-1",
            "evidence": [
                {
                    "id": "0061180",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061180"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14032-1",
            "uniprot_ac": "Q14032",
            "uniprot_id": "BAAT_HUMAN",
            "refseq_ac": "NP_001121082",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bile acid-CoA:amino acid N-acyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.65",
                    "type": "synonym"
                },
                {
                    "name": "3.1.2.27",
                    "type": "synonym"
                },
                {
                    "name": "3.1.2.2",
                    "type": "synonym"
                },
                {
                    "name": "BACAT",
                    "type": "synonym"
                },
                {
                    "name": "BAT",
                    "type": "synonym"
                },
                {
                    "name": "Bile acid-CoA thioesterase",
                    "type": "synonym"
                },
                {
                    "name": "Choloyl-CoA hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Glycine N-choloyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Long-chain fatty-acyl-CoA hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "bile acid Coenzyme A: amino acid N-acyltransferase (glycine N-choloyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "bile acid-CoA thioesterase",
                    "type": "synonym"
                },
                {
                    "name": "bile acid-CoA:amino acid N-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "choloyl-CoA hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "long-chain fatty-acyl-CoA hydrolase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BAAT",
                    "type": "recommended"
                },
                {
                    "name": "BAAT",
                    "type": "synonym"
                },
                {
                    "name": "BACAT",
                    "type": "synonym"
                },
                {
                    "name": "BACD1",
                    "type": "synonym"
                },
                {
                    "name": "BAT",
                    "type": "synonym"
                },
                {
                    "name": "FHCA3",
                    "type": "synonym"
                },
                {
                    "name": "HCHO",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14032-1",
            "evidence": [
                {
                    "id": "619232",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619232"
                },
                {
                    "id": "0061180",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061180"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63276-1",
            "uniprot_ac": "Q63276",
            "uniprot_id": "BAAT_RAT",
            "refseq_ac": "NP_058996",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bile acid-CoA:amino acid N-acyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.65",
                    "type": "synonym"
                },
                {
                    "name": "3.1.2.27",
                    "type": "synonym"
                },
                {
                    "name": "3.1.2.2",
                    "type": "synonym"
                },
                {
                    "name": "BACAT",
                    "type": "synonym"
                },
                {
                    "name": "BAT",
                    "type": "synonym"
                },
                {
                    "name": "Bile acid-CoA thioesterase",
                    "type": "synonym"
                },
                {
                    "name": "Choloyl-CoA hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Glycine N-choloyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Kan-1",
                    "type": "synonym"
                },
                {
                    "name": "Long-chain fatty-acyl-CoA hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "bile acid Coenzyme A: amino acid N-acyltransferase (glycine N-choloyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "bile acid-CoA thioesterase",
                    "type": "synonym"
                },
                {
                    "name": "bile acid-CoA:amino acid N-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "bile acid-Coenzyme A dehydrogenase: amino acid n-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "bile acid-Coenzyme A: amino acid N-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "choloyl-CoA hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "glycine N-choloyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "long-chain fatty-acyl-CoA hydrolase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Baat",
                    "type": "recommended"
                },
                {
                    "name": "Baat",
                    "type": "synonym"
                },
                {
                    "name": "kan-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63276-1",
            "evidence": [
                {
                    "id": "0061180",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061180"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5TAT6-1",
            "uniprot_ac": "Q5TAT6",
            "uniprot_id": "CODA1_HUMAN",
            "refseq_ac": "NP_001123575",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(XIII) chain",
                    "type": "recommended"
                },
                {
                    "name": "COLXIIIA1",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(XIII) chain isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(XIII) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type XIII, alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL13A1",
                    "type": "recommended"
                },
                {
                    "name": "CMS19",
                    "type": "synonym"
                },
                {
                    "name": "COL13A1",
                    "type": "synonym"
                },
                {
                    "name": "COLXIIIA1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5TAT6-1",
            "evidence": [
                {
                    "id": "0061180",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061180"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061180"
}