{
    "disease_id": "DOID:0050725",
    "recommended_name": {
        "id": "DOID:0050725",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050725",
        "name": "tyrosinemia type II",
        "description": "A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels."
    },
    "synonyms": [
        {
            "id": "DOID:0050725",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050725",
            "name": "Oculocutaneous tyrosinemia",
            "description": ""
        },
        {
            "id": "DOID:0050725",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050725",
            "name": "Richner-Hanhart syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010160",
            "name": "tyrosinemia type II",
            "description": "Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit."
        },
        {
            "id": "MONDO:0010160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010160",
            "name": "Richner-Hanhart syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010160",
            "name": "keratosis palmoplantaris-corneal dystrophy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010160",
            "name": "oculocutaneous tyrosinemia",
            "description": ""
        },
        {
            "id": "MONDO:0010160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010160",
            "name": "tyrosinemia due to TAT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010160",
            "name": "tyrosinemia due to tyrosine aminotransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010160",
            "name": "tyrosinemia type II",
            "description": ""
        },
        {
            "id": "MONDO:0010160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010160",
            "name": "Richner Hanhart syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010160",
            "name": "TYRSN2",
            "description": ""
        },
        {
            "id": "MONDO:0010160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010160",
            "name": "Tyrosinosis oculocutaneous type",
            "description": ""
        },
        {
            "id": "MONDO:0010160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010160",
            "name": "tyrosinemia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010160",
            "name": "tyrosinemia, type II",
            "description": ""
        },
        {
            "id": "MIM:276600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/276600",
            "name": "Tyrosinemia 2",
            "description": "Tyrosinemia 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050725"
    ],
    "unlinked_id_list": []
}