{
    "disease_id": "DOID:0090106",
    "recommended_name": {
        "id": "DOID:0090106",
        "resource": "Disease Ontology",
        "url": "https://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": "https://disease-ontology.org/term/DOID:0090106",
            "name": "hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090106",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090106",
            "name": "6-pyruvoyl-tetrahydropterin synthase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090106",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090106",
            "name": "HPABH4A",
            "description": ""
        },
        {
            "id": "DOID:0090106",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090106",
            "name": "PTS deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090106",
            "resource": "Disease Ontology",
            "url": "https://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": "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, 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"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090106"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090106",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090106",
            "categories": []
        },
        {
            "id": "MONDO:0009863",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009863",
            "categories": []
        },
        {
            "id": "MIM:261640",
            "database": "MIM",
            "url": "https://www.omim.org/entry/261640",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9R1Z7-1",
            "uniprot_ac": "Q9R1Z7",
            "uniprot_id": "PTPS_MOUSE",
            "refseq_ac": "NP_035350",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "6-pyruvoyl tetrahydrobiopterin synthase",
                    "type": "recommended"
                },
                {
                    "name": "4.2.3.12",
                    "type": "synonym"
                },
                {
                    "name": "6-pyruvoyl tetrahydrobiopterin synthase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "6-pyruvoyl tetrahydrobiopterin synthase",
                    "type": "synonym"
                },
                {
                    "name": "PTP synthase",
                    "type": "synonym"
                },
                {
                    "name": "PTPS",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pts",
                    "type": "recommended"
                },
                {
                    "name": "PTPS",
                    "type": "synonym"
                },
                {
                    "name": "Pts",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R1Z7-1",
            "evidence": [
                {
                    "id": "0090106",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090106"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03393-1",
            "uniprot_ac": "Q03393",
            "uniprot_id": "PTPS_HUMAN",
            "refseq_ac": "NP_000308",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "6-pyruvoyl tetrahydrobiopterin synthase",
                    "type": "recommended"
                },
                {
                    "name": "4.2.3.12",
                    "type": "synonym"
                },
                {
                    "name": "6-pyruvoyl tetrahydrobiopterin synthase",
                    "type": "synonym"
                },
                {
                    "name": "PTP synthase",
                    "type": "synonym"
                },
                {
                    "name": "PTPS",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PTS",
                    "type": "recommended"
                },
                {
                    "name": "PTPS",
                    "type": "synonym"
                },
                {
                    "name": "PTS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03393-1",
            "evidence": [
                {
                    "id": "261640",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/261640"
                },
                {
                    "id": "0090106",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090106"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P27213-1",
            "uniprot_ac": "P27213",
            "uniprot_id": "PTPS_RAT",
            "refseq_ac": "NP_058916",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "6-pyruvoyl tetrahydrobiopterin synthase",
                    "type": "recommended"
                },
                {
                    "name": "4.2.3.12",
                    "type": "synonym"
                },
                {
                    "name": "6-pyruvoyl tetrahydrobiopterin synthase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "6-pyruvoyl tetrahydrobiopterin synthase",
                    "type": "synonym"
                },
                {
                    "name": "6-pyruvoyltetrahydropterin synthase",
                    "type": "synonym"
                },
                {
                    "name": "PTP synthase",
                    "type": "synonym"
                },
                {
                    "name": "PTPS",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pts",
                    "type": "recommended"
                },
                {
                    "name": "Pts",
                    "type": "synonym"
                }
            ],
            "record_id": "P27213-1",
            "evidence": [
                {
                    "id": "0090106",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090106"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48611-1",
            "uniprot_ac": "P48611",
            "uniprot_id": "PTPS_DROME",
            "refseq_ac": "NP_724244",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "6-pyruvoyl tetrahydrobiopterin synthase",
                    "type": "recommended"
                },
                {
                    "name": "4.2.3.12",
                    "type": "synonym"
                },
                {
                    "name": "CG16784-PC",
                    "type": "synonym"
                },
                {
                    "name": "PTP synthase",
                    "type": "synonym"
                },
                {
                    "name": "PTPS",
                    "type": "synonym"
                },
                {
                    "name": "Protein purple",
                    "type": "synonym"
                },
                {
                    "name": "Sepiapterin synthase A",
                    "type": "synonym"
                },
                {
                    "name": "pr-PC",
                    "type": "synonym"
                },
                {
                    "name": "purple",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pr",
                    "type": "recommended"
                },
                {
                    "name": "38B.9",
                    "type": "synonym"
                },
                {
                    "name": "CG16784",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG16784",
                    "type": "synonym"
                },
                {
                    "name": "PTPS",
                    "type": "synonym"
                },
                {
                    "name": "anon-38Bb",
                    "type": "synonym"
                },
                {
                    "name": "pr",
                    "type": "synonym"
                }
            ],
            "record_id": "P48611-1",
            "evidence": [
                {
                    "id": "0090106",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090106"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090106"
}