{
    "disease_id": "DOID:0111362",
    "recommended_name": {
        "id": "DOID:0111362",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111362",
        "name": "hawkinsinuria",
        "description": "An amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawksin metabolite in the urine throughout life that has_material_basis_in heterozygous mutation in HPD on chromosome 12q24.31."
    },
    "synonyms": [
        {
            "id": "DOID:0111362",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111362",
            "name": "4-HPPD deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111362",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111362",
            "name": "4-hydroxyphenylpyruvic acid dioxygenase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111362",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111362",
            "name": "4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0007700",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007700",
            "name": "hawkinsinuria",
            "description": "Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine."
        },
        {
            "id": "MONDO:0007700",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007700",
            "name": "4-HPPD deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0007700",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007700",
            "name": "4-alpha-hydroxyphenylpyruvate hydroxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0007700",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007700",
            "name": "4-hydroxyphenylpyruvic acid dioxygenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0007700",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007700",
            "name": "hawkinsinuria",
            "description": ""
        },
        {
            "id": "MIM:140350",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/140350",
            "name": "Hawkinsinuria",
            "description": "Hawkinsinuria"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111362"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111362",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111362",
            "categories": []
        },
        {
            "id": "MONDO:0007700",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007700",
            "categories": []
        },
        {
            "id": "MIM:140350",
            "database": "MIM",
            "url": "https://www.omim.org/entry/140350",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6TGZ5-1",
            "uniprot_ac": "Q6TGZ5",
            "uniprot_id": "HPPD_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "4-hydroxyphenylpyruvate dioxygenase a",
                    "type": "recommended"
                },
                {
                    "name": "1.13.11.27",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.348",
                    "type": "synonym"
                },
                {
                    "name": "4-hydroxyphenylpyruvic acid oxidase",
                    "type": "synonym"
                },
                {
                    "name": "4HPPD",
                    "type": "synonym"
                },
                {
                    "name": "HPD",
                    "type": "synonym"
                },
                {
                    "name": "HPPDase",
                    "type": "synonym"
                },
                {
                    "name": "N(6)-adenosine-methyltransferase HPD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hpda",
                    "type": "recommended"
                },
                {
                    "name": "fb58f02",
                    "type": "synonym"
                },
                {
                    "name": "hpd",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb58f02",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56326",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6TGZ5-1",
            "evidence": [
                {
                    "id": "0111362",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111362"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49429-1",
            "uniprot_ac": "P49429",
            "uniprot_id": "HPPD_MOUSE",
            "refseq_ac": "NP_032303",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "4-hydroxyphenylpyruvate dioxygenase",
                    "type": "recommended"
                },
                {
                    "name": "1.13.11.27",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.348",
                    "type": "synonym"
                },
                {
                    "name": "4-hydroxyphenylpyruvate dioxygenase",
                    "type": "synonym"
                },
                {
                    "name": "4-hydroxyphenylpyruvic acid oxidase",
                    "type": "synonym"
                },
                {
                    "name": "4HPPD",
                    "type": "synonym"
                },
                {
                    "name": "F Alloantigen",
                    "type": "synonym"
                },
                {
                    "name": "F liver antigen",
                    "type": "synonym"
                },
                {
                    "name": "F protein",
                    "type": "synonym"
                },
                {
                    "name": "HPD",
                    "type": "synonym"
                },
                {
                    "name": "HPPDase",
                    "type": "synonym"
                },
                {
                    "name": "N(6)-adenosine-methyltransferase HPD",
                    "type": "synonym"
                },
                {
                    "name": "f Alloantigen",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hpd",
                    "type": "recommended"
                },
                {
                    "name": "4HPPD",
                    "type": "synonym"
                },
                {
                    "name": "Fla",
                    "type": "synonym"
                },
                {
                    "name": "Flp",
                    "type": "synonym"
                },
                {
                    "name": "Hpd",
                    "type": "synonym"
                },
                {
                    "name": "Hppd",
                    "type": "synonym"
                },
                {
                    "name": "Laf",
                    "type": "synonym"
                }
            ],
            "record_id": "P49429-1",
            "evidence": [
                {
                    "id": "0111362",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111362"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32754-1",
            "uniprot_ac": "P32754",
            "uniprot_id": "HPPD_HUMAN",
            "refseq_ac": "NP_001165464",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "4-hydroxyphenylpyruvate dioxygenase",
                    "type": "recommended"
                },
                {
                    "name": "1.13.11.27",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.348",
                    "type": "synonym"
                },
                {
                    "name": "4-hydroxyphenylpyruvate dioxygenase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "4-hydroxyphenylpyruvic acid oxidase",
                    "type": "synonym"
                },
                {
                    "name": "4HPPD",
                    "type": "synonym"
                },
                {
                    "name": "HPD",
                    "type": "synonym"
                },
                {
                    "name": "HPPDase",
                    "type": "synonym"
                },
                {
                    "name": "N(6)-adenosine-methyltransferase HPD",
                    "type": "synonym"
                },
                {
                    "name": "glyoxalase domain containing 3",
                    "type": "synonym"
                },
                {
                    "name": "p-hydroxyphenylpyruvate dioxygenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HPD",
                    "type": "recommended"
                },
                {
                    "name": "4-HPPD",
                    "type": "synonym"
                },
                {
                    "name": "4HPPD",
                    "type": "synonym"
                },
                {
                    "name": "GLOD3",
                    "type": "synonym"
                },
                {
                    "name": "HPD",
                    "type": "synonym"
                },
                {
                    "name": "HPPDASE",
                    "type": "synonym"
                },
                {
                    "name": "HPPD",
                    "type": "synonym"
                },
                {
                    "name": "PPD",
                    "type": "synonym"
                }
            ],
            "record_id": "P32754-1",
            "evidence": [
                {
                    "id": "140350",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/140350"
                },
                {
                    "id": "0111362",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111362"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32755-1",
            "uniprot_ac": "P32755",
            "uniprot_id": "HPPD_RAT",
            "refseq_ac": "NP_058929",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "4-hydroxyphenylpyruvate dioxygenase",
                    "type": "recommended"
                },
                {
                    "name": "1.13.11.27",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.348",
                    "type": "synonym"
                },
                {
                    "name": "4-hydroxyphenylpyruvate dioxygenase",
                    "type": "synonym"
                },
                {
                    "name": "4-hydroxyphenylpyruvic acid dioxygenase",
                    "type": "synonym"
                },
                {
                    "name": "4-hydroxyphenylpyruvic acid oxidase",
                    "type": "synonym"
                },
                {
                    "name": "4HPPD",
                    "type": "synonym"
                },
                {
                    "name": "F Alloantigen",
                    "type": "synonym"
                },
                {
                    "name": "F protein",
                    "type": "synonym"
                },
                {
                    "name": "HPD",
                    "type": "synonym"
                },
                {
                    "name": "HPPDase",
                    "type": "synonym"
                },
                {
                    "name": "N(6)-adenosine-methyltransferase HPD",
                    "type": "synonym"
                },
                {
                    "name": "f Alloantigen",
                    "type": "synonym"
                },
                {
                    "name": "f protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hpd",
                    "type": "recommended"
                },
                {
                    "name": "Hpd",
                    "type": "synonym"
                }
            ],
            "record_id": "P32755-1",
            "evidence": [
                {
                    "id": "0111362",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111362"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VPF3-1",
            "uniprot_ac": "Q9VPF3",
            "uniprot_id": "Q9VPF3_DROME",
            "refseq_ac": "NP_730536",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "4-hydroxyphenylpyruvate dioxygenase",
                    "type": "recommended"
                },
                {
                    "name": "4-hydroxyphenylpyruvate dioxygenase, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "CG11796-PA",
                    "type": "synonym"
                },
                {
                    "name": "Hpd-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hpd",
                    "type": "recommended"
                },
                {
                    "name": "CG11796",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11796",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11796",
                    "type": "synonym"
                },
                {
                    "name": "HPD",
                    "type": "synonym"
                },
                {
                    "name": "Hpd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VPF3-1",
            "evidence": [
                {
                    "id": "0111362",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111362"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111362"
}