{
    "disease_id": "DOID:0050726",
    "recommended_name": {
        "id": "DOID:0050726",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050726",
        "name": "tyrosinemia type I",
        "description": "A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body."
    },
    "synonyms": [
        {
            "id": "DOID:0050726",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050726",
            "name": "hepatorenal tyrosinemia",
            "description": ""
        },
        {
            "id": "MONDO:0010161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010161",
            "name": "tyrosinemia type I",
            "description": "Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone."
        },
        {
            "id": "MONDO:0010161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010161",
            "name": "FAH deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010161",
            "name": "Tyrosinemia Type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010161",
            "name": "fumarylacetoacetase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010161",
            "name": "fumarylacetoacetate hydrolase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010161",
            "name": "hepatorenal tyrosinemia",
            "description": ""
        },
        {
            "id": "MONDO:0010161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010161",
            "name": "type I tyrosinemia",
            "description": ""
        },
        {
            "id": "MONDO:0010161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010161",
            "name": "tyrosinemia type I",
            "description": ""
        },
        {
            "id": "MONDO:0010161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010161",
            "name": "TYRSN1",
            "description": ""
        },
        {
            "id": "MONDO:0010161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010161",
            "name": "tyrosinemia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010161",
            "name": "tyrosinemia, type I",
            "description": ""
        },
        {
            "id": "MIM:276700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/276700",
            "name": "Tyrosinemia 1",
            "description": "Tyrosinemia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050726"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050726",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050726",
            "categories": []
        },
        {
            "id": "MONDO:0010161",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010161",
            "categories": []
        },
        {
            "id": "MIM:276700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/276700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58FY41-1",
            "uniprot_ac": "A0AC58FY41",
            "uniprot_id": "A0AC58FY41_DANRE",
            "refseq_ac": "NP_001428711",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fumarylacetoacetase",
                    "type": "recommended"
                },
                {
                    "name": "3.7.1.2",
                    "type": "synonym"
                },
                {
                    "name": "Fumarylacetoacetate hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "fumarylacetoacetase isoform 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fah",
                    "type": "recommended"
                },
                {
                    "name": "fah",
                    "type": "synonym"
                },
                {
                    "name": "fb59b12",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb59b12",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55316",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58FY41-1",
            "evidence": [
                {
                    "id": "0050726",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050726"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35505-1",
            "uniprot_ac": "P35505",
            "uniprot_id": "FAAA_MOUSE",
            "refseq_ac": "NP_034306",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fumarylacetoacetase",
                    "type": "recommended"
                },
                {
                    "name": "3.7.1.2",
                    "type": "synonym"
                },
                {
                    "name": "Beta-diketonase",
                    "type": "synonym"
                },
                {
                    "name": "FAA",
                    "type": "synonym"
                },
                {
                    "name": "Fumarylacetoacetate hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "beta-diketonase",
                    "type": "synonym"
                },
                {
                    "name": "fumarylacetoacetase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fah",
                    "type": "recommended"
                },
                {
                    "name": "Fah",
                    "type": "synonym"
                },
                {
                    "name": "swst",
                    "type": "synonym"
                }
            ],
            "record_id": "P35505-1",
            "evidence": [
                {
                    "id": "0050726",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050726"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16930-1",
            "uniprot_ac": "P16930",
            "uniprot_id": "FAAA_HUMAN",
            "refseq_ac": "NP_000128",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fumarylacetoacetase",
                    "type": "recommended"
                },
                {
                    "name": "3.7.1.2",
                    "type": "synonym"
                },
                {
                    "name": "Beta-diketonase",
                    "type": "synonym"
                },
                {
                    "name": "FAA",
                    "type": "synonym"
                },
                {
                    "name": "Fumarylacetoacetate hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "beta-diketonase",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "fumarylacetoacetase",
                    "type": "synonym"
                },
                {
                    "name": "fumarylacetoacetate hydrolase (fumarylacetoacetase)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FAH",
                    "type": "recommended"
                },
                {
                    "name": "FAH",
                    "type": "synonym"
                }
            ],
            "record_id": "P16930-1",
            "evidence": [
                {
                    "id": "276700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/276700"
                },
                {
                    "id": "0050726",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050726"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25093-1",
            "uniprot_ac": "P25093",
            "uniprot_id": "FAAA_RAT",
            "refseq_ac": "NP_058877",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fumarylacetoacetase",
                    "type": "recommended"
                },
                {
                    "name": "3.7.1.2",
                    "type": "synonym"
                },
                {
                    "name": "Beta-diketonase",
                    "type": "synonym"
                },
                {
                    "name": "FAA",
                    "type": "synonym"
                },
                {
                    "name": "Fumarylacetoacetate hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "beta-diketonase",
                    "type": "synonym"
                },
                {
                    "name": "fumarylacetoacetase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fah",
                    "type": "recommended"
                },
                {
                    "name": "Fah",
                    "type": "synonym"
                }
            ],
            "record_id": "P25093-1",
            "evidence": [
                {
                    "id": "0050726",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050726"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01347-1",
            "uniprot_ac": "P01347",
            "uniprot_id": "REL1_RAT",
            "refseq_ac": "NP_038199",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prorelaxin 1",
                    "type": "recommended"
                },
                {
                    "name": "Relaxin 1 (H1)",
                    "type": "synonym"
                },
                {
                    "name": "preprorelaxin",
                    "type": "synonym"
                },
                {
                    "name": "prorelaxin 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "prorelaxin 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rln1",
                    "type": "recommended"
                },
                {
                    "name": "RELAX",
                    "type": "synonym"
                },
                {
                    "name": "Rln1",
                    "type": "synonym"
                },
                {
                    "name": "Rln",
                    "type": "synonym"
                }
            ],
            "record_id": "P01347-1",
            "evidence": [
                {
                    "id": "0050726",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050726"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VZI8-1",
            "uniprot_ac": "Q9VZI8",
            "uniprot_id": "Q9VZI8_DROME",
            "refseq_ac": "NP_524830",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fumarylacetoacetase",
                    "type": "recommended"
                },
                {
                    "name": "3.7.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CG14993-PA",
                    "type": "synonym"
                },
                {
                    "name": "Faa-PA",
                    "type": "synonym"
                },
                {
                    "name": "Fumarylacetoacetate hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "fumarylacetoacetase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Faa",
                    "type": "recommended"
                },
                {
                    "name": "CG14993",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14993",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14993",
                    "type": "synonym"
                },
                {
                    "name": "Faa",
                    "type": "synonym"
                },
                {
                    "name": "dfaa",
                    "type": "synonym"
                },
                {
                    "name": "l(3)64Al",
                    "type": "synonym"
                },
                {
                    "name": "l(3)SH11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VZI8-1",
            "evidence": [
                {
                    "id": "0050726",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050726"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050726"
}