{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0050725",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050725",
            "categories": []
        },
        {
            "id": "MONDO:0010160",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010160",
            "categories": []
        },
        {
            "id": "MIM:276600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/276600",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N1TQ92-1",
            "uniprot_ac": "A0A8N1TQ92",
            "uniprot_id": "A0A8N1TQ92_DANRE",
            "refseq_ac": "NP_001071022",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine aminotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.5",
                    "type": "synonym"
                },
                {
                    "name": "TAT",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine aminotransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tat",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-238a12.1",
                    "type": "synonym"
                },
                {
                    "name": "tat",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb60g09",
                    "type": "synonym"
                },
                {
                    "name": "zgc:154059",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N1TQ92-1",
            "evidence": [
                {
                    "id": "0050725",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050725"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8QZR1-1",
            "uniprot_ac": "Q8QZR1",
            "uniprot_id": "ATTY_MOUSE",
            "refseq_ac": "NP_666326",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine aminotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.5",
                    "type": "synonym"
                },
                {
                    "name": "L-tyrosine:2-oxoglutarate aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "TAT",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine transaminase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tat",
                    "type": "recommended"
                },
                {
                    "name": "Tat",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8QZR1-1",
            "evidence": [
                {
                    "id": "0050725",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050725"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17735-1",
            "uniprot_ac": "P17735",
            "uniprot_id": "ATTY_HUMAN",
            "refseq_ac": "NP_000344",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine aminotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.5",
                    "type": "synonym"
                },
                {
                    "name": "L-tyrosine:2-oxoglutarate aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "TAT",
                    "type": "synonym"
                },
                {
                    "name": "testis tissue sperm-binding protein Li 34a",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine aminotransferase, cytosolic",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine aminotransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TAT",
                    "type": "recommended"
                },
                {
                    "name": "TAT",
                    "type": "synonym"
                }
            ],
            "record_id": "P17735-1",
            "evidence": [
                {
                    "id": "276600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/276600"
                },
                {
                    "id": "0050725",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050725"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04694-1",
            "uniprot_ac": "P04694",
            "uniprot_id": "ATTY_RAT",
            "refseq_ac": "NP_036800",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine aminotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.5",
                    "type": "synonym"
                },
                {
                    "name": "L-tyrosine:2-oxoglutarate aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "TAT",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine aminotransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tat",
                    "type": "recommended"
                },
                {
                    "name": "Tat",
                    "type": "synonym"
                }
            ],
            "record_id": "P04694-1",
            "evidence": [
                {
                    "id": "0050725",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050725"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VY42-1",
            "uniprot_ac": "Q9VY42",
            "uniprot_id": "Q9VY42_DROME",
            "refseq_ac": "NP_001285238",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine aminotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.5",
                    "type": "synonym"
                },
                {
                    "name": "CG1461-PB",
                    "type": "synonym"
                },
                {
                    "name": "TAT",
                    "type": "synonym"
                },
                {
                    "name": "Tat-PB",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine aminotransferase, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine aminotransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tat",
                    "type": "recommended"
                },
                {
                    "name": "CG1461",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1461",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1461",
                    "type": "synonym"
                },
                {
                    "name": "TAT",
                    "type": "synonym"
                },
                {
                    "name": "Tat",
                    "type": "synonym"
                },
                {
                    "name": "cg1461",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VY42-1",
            "evidence": [
                {
                    "id": "0050725",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050725"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050725"
}