{
    "disease_id": "DOID:0090106", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009863", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009863", 
            "name": "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to PTS deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009863", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009863", 
            "name": "6-pyruvoyl tetrahydropterin synthase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009863", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009863", 
            "name": "6-pyruvoyl-tetrahydropterin synthase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009863", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009863", 
            "name": "Bh4-deficient hyperphenylalaninemia type A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009863", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009863", 
            "name": "hyperphenylalaninemia, BH4-deficient, type A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009863", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009863", 
            "name": "hyperphenylalanemia, BH4-deficient, A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009863", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009863", 
            "name": "hyperphenylalaninemia, BH4-deficient A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009863", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009863", 
            "name": "tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009863", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009863", 
            "name": "PTS deficiency hyperphenylalaninemia, BH4-deficient, due to partial PTS deficiency, included"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009863", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009863", 
            "name": "PTS deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009863", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009863", 
            "name": "hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009863", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009863", 
            "name": "hyperphenylalaninemia, BH4-deficient, A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009863", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009863", 
            "name": "hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009863", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009863", 
            "name": "hyperphenylalaninemia, Bh4-deficient, due to partial PTS deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009863", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009863", 
            "name": "HPABH4A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009863", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009863", 
            "name": "hyperphenylalaninemia, BH4-deficient, A; HPABH4A"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090106", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090106", 
            "name": "hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090106", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090106", 
            "name": "6-pyruvoyl-tetrahydropterin synthase deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090106", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090106", 
            "name": "HPABH4A"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090106", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090106", 
            "name": "PTS deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090106", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090106", 
            "name": "tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0090106", 
        "description": "An amino acid metabolic disorder 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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0090106", 
        "name": "Bh4-deficient hyperphenylalaninemia A"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0090106#disease-associations", 
            "id": "0090106", 
            "database": "Alliance of Genome Resources"
        }
    ]
}