{
    "disease_id": "DOID:0081130",
    "recommended_name": {
        "id": "DOID:0081130",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081130",
        "name": "BH4-deficient hyperphenylalaninemia C",
        "description": "A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the QDPR gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 4p15."
    },
    "synonyms": [
        {
            "id": "DOID:0081130",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081130",
            "name": "tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia due to dihydropteridine reductase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009862",
            "name": "dihydropteridine reductase deficiency",
            "description": "Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties."
        },
        {
            "id": "MONDO:0009862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009862",
            "name": "6,7-dihydropteridine reductase activity disease",
            "description": ""
        },
        {
            "id": "MONDO:0009862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009862",
            "name": "PKU type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009862",
            "name": "dihydropteridine reductase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009862",
            "name": "disorder of 6,7-dihydropteridine reductase activity",
            "description": ""
        },
        {
            "id": "MONDO:0009862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009862",
            "name": "hyperphenylalaninemia due to dihydropteridine reductase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009862",
            "name": "hyperphenylalaninemia, BH4-deficient C",
            "description": ""
        },
        {
            "id": "MONDO:0009862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009862",
            "name": "hyperphenylalaninemia, Bh4-deficient, type C",
            "description": ""
        },
        {
            "id": "MONDO:0009862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009862",
            "name": "phenylketonuria type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009862",
            "name": "HPABH4C",
            "description": ""
        },
        {
            "id": "MONDO:0009862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009862",
            "name": "hyperphenylalaninemia, BH-4-deficient, C",
            "description": ""
        },
        {
            "id": "MONDO:0009862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009862",
            "name": "hyperphenylalaninemia, BH4-deficient, C",
            "description": ""
        },
        {
            "id": "MIM:261630",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/261630",
            "name": "Hyperphenylalaninemia, BH4-deficient, C",
            "description": "Hyperphenylalaninemia, BH4-deficient, C"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081130"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081130",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081130",
            "categories": []
        },
        {
            "id": "MONDO:0009862",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009862",
            "categories": []
        },
        {
            "id": "MIM:261630",
            "database": "MIM",
            "url": "https://www.omim.org/entry/261630",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1NES4-1",
            "uniprot_ac": "A0A8M1NES4",
            "uniprot_id": "A0A8M1NES4_DANRE",
            "refseq_ac": "NP_001103180",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dihydropteridine reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.5.1.34",
                    "type": "synonym"
                },
                {
                    "name": "HDHPR",
                    "type": "synonym"
                },
                {
                    "name": "Quinoid dihydropteridine reductase",
                    "type": "synonym"
                },
                {
                    "name": "quinoid dihydropteridine reductase b, tandem duplicate 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "quinoid dihydropteridine reductase b2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "qdprb.2",
                    "type": "recommended"
                },
                {
                    "name": "LOC141385605",
                    "type": "synonym"
                },
                {
                    "name": "im:7158768",
                    "type": "synonym"
                },
                {
                    "name": "qdprb.3",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-40h17.4",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NES4-1",
            "evidence": [
                {
                    "id": "0081130",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081130"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BVI4-1",
            "uniprot_ac": "Q8BVI4",
            "uniprot_id": "DHPR_MOUSE",
            "refseq_ac": "NP_077198",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dihydropteridine reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.5.1.34",
                    "type": "synonym"
                },
                {
                    "name": "HDHPR",
                    "type": "synonym"
                },
                {
                    "name": "Quinoid dihydropteridine reductase",
                    "type": "synonym"
                },
                {
                    "name": "dihydropteridine reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Qdpr",
                    "type": "recommended"
                },
                {
                    "name": "2610008L04Rik",
                    "type": "synonym"
                },
                {
                    "name": "D5Ertd371e",
                    "type": "synonym"
                },
                {
                    "name": "Dhpr",
                    "type": "synonym"
                },
                {
                    "name": "PKU2",
                    "type": "synonym"
                },
                {
                    "name": "Qdpr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BVI4-1",
            "evidence": [
                {
                    "id": "0081130",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081130"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09417-1",
            "uniprot_ac": "P09417",
            "uniprot_id": "DHPR_HUMAN",
            "refseq_ac": "NP_000311",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dihydropteridine reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.5.1.34",
                    "type": "synonym"
                },
                {
                    "name": "6,7-dihydropteridine reductase",
                    "type": "synonym"
                },
                {
                    "name": "HDHPR",
                    "type": "synonym"
                },
                {
                    "name": "Quinoid dihydropteridine reductase",
                    "type": "synonym"
                },
                {
                    "name": "Short chain dehydrogenase/reductase family 33C member 1",
                    "type": "synonym"
                },
                {
                    "name": "dihydropteridine reductase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "short chain dehydrogenase/reductase family 33C member 1",
                    "type": "synonym"
                },
                {
                    "name": "testis secretory sperm-binding protein Li 236P",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "QDPR",
                    "type": "recommended"
                },
                {
                    "name": "DHPR",
                    "type": "synonym"
                },
                {
                    "name": "HDHPR",
                    "type": "synonym"
                },
                {
                    "name": "PKU2",
                    "type": "synonym"
                },
                {
                    "name": "QDPR",
                    "type": "synonym"
                },
                {
                    "name": "SDR33C1",
                    "type": "synonym"
                }
            ],
            "record_id": "P09417-1",
            "evidence": [
                {
                    "id": "261630",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/261630"
                },
                {
                    "id": "0081130",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081130"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11348-1",
            "uniprot_ac": "P11348",
            "uniprot_id": "DHPR_RAT",
            "refseq_ac": "NP_071785",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dihydropteridine reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.5.1.34",
                    "type": "synonym"
                },
                {
                    "name": "HDHPR",
                    "type": "synonym"
                },
                {
                    "name": "Quinoid dihydropteridine reductase",
                    "type": "synonym"
                },
                {
                    "name": "dihydropteridine reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Qdpr",
                    "type": "recommended"
                },
                {
                    "name": "Dhpr",
                    "type": "synonym"
                },
                {
                    "name": "Qdpr",
                    "type": "synonym"
                }
            ],
            "record_id": "P11348-1",
            "evidence": [
                {
                    "id": "0081130",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081130"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VSU6-1",
            "uniprot_ac": "Q9VSU6",
            "uniprot_id": "Q9VSU6_DROME",
            "refseq_ac": "NP_001014579",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dihydropteridine reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.5.1.34",
                    "type": "synonym"
                },
                {
                    "name": "CG4665-PB",
                    "type": "synonym"
                },
                {
                    "name": "Dhpr-PB",
                    "type": "synonym"
                },
                {
                    "name": "HDHPR",
                    "type": "synonym"
                },
                {
                    "name": "Quinoid dihydropteridine reductase",
                    "type": "synonym"
                },
                {
                    "name": "dihydropteridine reductase, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dhpr",
                    "type": "recommended"
                },
                {
                    "name": "CG4665",
                    "type": "synonym"
                },
                {
                    "name": "DHPR",
                    "type": "synonym"
                },
                {
                    "name": "Dhpr",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4665",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4665",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VSU6-1",
            "evidence": [
                {
                    "id": "0081130",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081130"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081130"
}