{
    "disease_id": "DOID:0090106",
    "recommended_name": {
        "id": "DOID:0090106",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0090106",
        "name": "BH4-deficient hyperphenylalaninemia A",
        "description": "A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1."
    },
    "synonyms": [
        {
            "id": "DOID:0090106",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090106",
            "name": "hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090106",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090106",
            "name": "6-pyruvoyl-tetrahydropterin synthase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090106",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090106",
            "name": "HPABH4A",
            "description": ""
        },
        {
            "id": "DOID:0090106",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090106",
            "name": "PTS deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090106",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090106",
            "name": "tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009863",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009863",
            "name": "BH4-deficient hyperphenylalaninemia A",
            "description": "An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits."
        },
        {
            "id": "MONDO:0009863",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009863",
            "name": "6-pyruvoyl tetrahydropterin synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009863",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009863",
            "name": "6-pyruvoyl-tetrahydropterin synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009863",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009863",
            "name": "BH4-deficient hyperphenylalaninemia A",
            "description": ""
        },
        {
            "id": "MONDO:0009863",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009863",
            "name": "Bh4-deficient hyperphenylalaninemia type A",
            "description": ""
        },
        {
            "id": "MONDO:0009863",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009863",
            "name": "HPABH4A",
            "description": ""
        },
        {
            "id": "MONDO:0009863",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009863",
            "name": "PTS deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009863",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009863",
            "name": "hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009863",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009863",
            "name": "hyperphenylalaninemia, BH4-deficient A",
            "description": ""
        },
        {
            "id": "MONDO:0009863",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009863",
            "name": "hyperphenylalaninemia, Bh4-deficient, type a",
            "description": ""
        },
        {
            "id": "MONDO:0009863",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009863",
            "name": "tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009863",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009863",
            "name": "PTS deficiency hyperphenylalaninemia, BH4-deficient, due to partial PTS deficiency, included",
            "description": ""
        },
        {
            "id": "MONDO:0009863",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009863",
            "name": "hyperphenylalanemia, BH4-deficient, A",
            "description": ""
        },
        {
            "id": "MONDO:0009863",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009863",
            "name": "hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009863",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009863",
            "name": "hyperphenylalaninemia, BH4-deficient, A",
            "description": ""
        },
        {
            "id": "MONDO:0009863",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009863",
            "name": "hyperphenylalaninemia, BH4-deficient, type A",
            "description": ""
        },
        {
            "id": "MONDO:0009863",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009863",
            "name": "hyperphenylalaninemia, Bh4-deficient, due to partial PTS deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009863",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009863",
            "name": "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to PTS deficiency",
            "description": ""
        },
        {
            "id": "MIM:261640",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/261640",
            "name": "Hyperphenylalaninemia, BH4-deficient, A",
            "description": "Hyperphenylalaninemia, BH4-deficient, A"
        }
    ]
}