{
    "disease_id": "DOID:0111362",
    "recommended_name": {
        "id": "DOID:0111362",
        "resource": "Disease Ontology",
        "url": "http://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": "http://disease-ontology.org/term/DOID:0111362",
            "name": "4-HPPD deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111362",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111362",
            "name": "4-hydroxyphenylpyruvic acid dioxygenase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111362",
            "resource": "Disease Ontology",
            "url": "http://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": []
}