{
    "disease_id": "DOID:0112225",
    "recommended_name": {
        "id": "DOID:0112225",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112225",
        "name": "BH4-deficient hyperphenylalaninemia B",
        "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 homozygous or compound heterozygous mutation in the GCH1 gene on chromosome 14q22.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112225",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112225",
            "name": "GTP cyclohydrolase 1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112225",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112225",
            "name": "HPABH4B",
            "description": ""
        },
        {
            "id": "DOID:0112225",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112225",
            "name": "tetrahydrobiopterin-deficient hyperphenylalaninemia B",
            "description": ""
        },
        {
            "id": "MONDO:0100186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100186",
            "name": "GTP cyclohydrolase I deficiency with hyperphenylalaninemia",
            "description": ""
        },
        {
            "id": "MONDO:0100186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100186",
            "name": "GTPCH deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0100186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100186",
            "name": "hyperphenylalaninemia due to GTP cyclohydrolase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0100186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100186",
            "name": "hyperphenylalaninemia, Bh4-deficient, type B",
            "description": ""
        },
        {
            "id": "MONDO:0100186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100186",
            "name": "GTP cyclohydrolase 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0100186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100186",
            "name": "GTP cyclohydrolase I deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0100186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100186",
            "name": "HPABH4B",
            "description": ""
        },
        {
            "id": "MONDO:0100186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100186",
            "name": "hyperphenylalaninemia, BH4-deficient, B",
            "description": ""
        },
        {
            "id": "MONDO:0100186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100186",
            "name": "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to GTP cyclohydrolase 1 deficiency",
            "description": ""
        },
        {
            "id": "MIM:233910",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/233910",
            "name": "Hyperphenylalaninemia, BH4-deficient, B",
            "description": "Hyperphenylalaninemia, BH4-deficient, B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112225"
    ],
    "unlinked_id_list": []
}