{
    "disease_id": "DOID:0050726",
    "recommended_name": {
        "id": "DOID:0050726",
        "resource": "Disease Ontology",
        "url": "http://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": "http://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": "type I tyrosinemia",
            "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": "tyrosinemia type I",
            "description": ""
        },
        {
            "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": "hepatorenal tyrosinemia",
            "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": "Fah deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010161",
            "name": "tyrosinemia, type I; 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": "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": "TYRSN1",
            "description": ""
        },
        {
            "id": "MIM:276700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/276700",
            "name": "Tyrosinemia 1",
            "description": "Tyrosinemia 1"
        }
    ]
}