{
    "disease_id": "DOID:0081131",
    "recommended_name": {
        "id": "DOID:0081131",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081131",
        "name": "BH4-deficient hyperphenylalaninemia D",
        "description": "A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by mild transient hyperphenylalaninemia often detected by newborn screening and that has_material_basis_in homozygous or compound heterozygous mutation in the PCBD gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 10q22."
    },
    "synonyms": [
        {
            "id": "DOID:0081131",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081131",
            "name": "tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009908",
            "name": "pterin-4 alpha-carbinolamine dehydratase 1 deficiency",
            "description": "Pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1) deficiency is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency, characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological development is normal with dietary control of blood phenyalanine. PCBD1 is inherited in an autosomal recessive manner."
        },
        {
            "id": "MONDO:0009908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009908",
            "name": "CADH deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009908",
            "name": "PCBD deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009908",
            "name": "PCBD1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009908",
            "name": "PCD deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009908",
            "name": "dehydratase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009908",
            "name": "hyperphenylalaninemia due to dehydratase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009908",
            "name": "hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009908",
            "name": "hyperphenylalaninemia with primapterinuria",
            "description": ""
        },
        {
            "id": "MONDO:0009908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009908",
            "name": "hyperphenylalaninemia, Bh4-deficient, type D",
            "description": ""
        },
        {
            "id": "MONDO:0009908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009908",
            "name": "pterin-4 alpha-carbinolamine dehydratase 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009908",
            "name": "HPABH4D",
            "description": ""
        },
        {
            "id": "MONDO:0009908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009908",
            "name": "hyperphenylalaninemia, BH4-deficient, D",
            "description": ""
        },
        {
            "id": "MONDO:0009908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009908",
            "name": "tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency",
            "description": ""
        },
        {
            "id": "MIM:264070",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/264070",
            "name": "Hyperphenylalaninemia, BH4-deficient, D",
            "description": "Hyperphenylalaninemia, BH4-deficient, D"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081131"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081131",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081131",
            "categories": []
        },
        {
            "id": "MONDO:0009908",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009908",
            "categories": []
        },
        {
            "id": "MIM:264070",
            "database": "MIM",
            "url": "https://www.omim.org/entry/264070",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P61458-1",
            "uniprot_ac": "P61458",
            "uniprot_id": "PHS_MOUSE",
            "refseq_ac": "NP_079549",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pterin-4-alpha-carbinolamine dehydratase",
                    "type": "recommended"
                },
                {
                    "name": "4-alpha-hydroxy-tetrahydropterin dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "4.2.1.96",
                    "type": "synonym"
                },
                {
                    "name": "6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)",
                    "type": "synonym"
                },
                {
                    "name": "DCoH",
                    "type": "synonym"
                },
                {
                    "name": "Dimerization cofactor of HNF1",
                    "type": "synonym"
                },
                {
                    "name": "Dimerization cofactor of hepatocyte nuclear factor 1-alpha",
                    "type": "synonym"
                },
                {
                    "name": "PCD",
                    "type": "synonym"
                },
                {
                    "name": "PHS",
                    "type": "synonym"
                },
                {
                    "name": "Phenylalanine hydroxylase-stimulating protein",
                    "type": "synonym"
                },
                {
                    "name": "Pterin carbinolamine dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "dimerization cofactor of HNF1",
                    "type": "synonym"
                },
                {
                    "name": "phenylalanine hydroxylase-stimulating protein",
                    "type": "synonym"
                },
                {
                    "name": "pterin carbinolamine dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "pterin-4-alpha-carbinolamine dehydratase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pcbd1",
                    "type": "recommended"
                },
                {
                    "name": "Dcoh",
                    "type": "synonym"
                },
                {
                    "name": "Pcbd1",
                    "type": "synonym"
                },
                {
                    "name": "Pcbd",
                    "type": "synonym"
                },
                {
                    "name": "Pcd",
                    "type": "synonym"
                },
                {
                    "name": "Phs",
                    "type": "synonym"
                }
            ],
            "record_id": "P61458-1",
            "evidence": [
                {
                    "id": "0081131",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081131"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61457-1",
            "uniprot_ac": "P61457",
            "uniprot_id": "PHS_HUMAN",
            "refseq_ac": "NP_000272",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pterin-4-alpha-carbinolamine dehydratase",
                    "type": "recommended"
                },
                {
                    "name": "4-alpha-hydroxy-tetrahydropterin dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "4.2.1.96",
                    "type": "synonym"
                },
                {
                    "name": "6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)",
                    "type": "synonym"
                },
                {
                    "name": "DCoH",
                    "type": "synonym"
                },
                {
                    "name": "Dimerization cofactor of HNF1",
                    "type": "synonym"
                },
                {
                    "name": "Dimerization cofactor of hepatocyte nuclear factor 1-alpha",
                    "type": "synonym"
                },
                {
                    "name": "PCD",
                    "type": "synonym"
                },
                {
                    "name": "PHS",
                    "type": "synonym"
                },
                {
                    "name": "Phenylalanine hydroxylase-stimulating protein",
                    "type": "synonym"
                },
                {
                    "name": "Pterin carbinolamine dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "dimerizing cofactor for HNF1",
                    "type": "synonym"
                },
                {
                    "name": "phenylalanine hydroxylase-stimulating protein",
                    "type": "synonym"
                },
                {
                    "name": "pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha",
                    "type": "synonym"
                },
                {
                    "name": "pterin-4-alpha-carbinolamine dehydratase isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PCBD1",
                    "type": "recommended"
                },
                {
                    "name": "DCOH",
                    "type": "synonym"
                },
                {
                    "name": "PCBD1",
                    "type": "synonym"
                },
                {
                    "name": "PCBD",
                    "type": "synonym"
                },
                {
                    "name": "PCD",
                    "type": "synonym"
                },
                {
                    "name": "PHS",
                    "type": "synonym"
                }
            ],
            "record_id": "P61457-1",
            "evidence": [
                {
                    "id": "264070",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/264070"
                },
                {
                    "id": "0081131",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081131"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38744-1",
            "uniprot_ac": "P38744",
            "uniprot_id": "PHS_YEAST",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative pterin-4-alpha-carbinolamine dehydratase",
                    "type": "recommended"
                },
                {
                    "name": "4-alpha-hydroxy-tetrahydropterin dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "4.2.1.96",
                    "type": "synonym"
                },
                {
                    "name": "PCD",
                    "type": "synonym"
                },
                {
                    "name": "PHS",
                    "type": "synonym"
                },
                {
                    "name": "Pterin carbinolamine dehydratase",
                    "type": "synonym"
                }
            ],
            "gene_names": [],
            "record_id": "P38744-1",
            "evidence": [
                {
                    "id": "0081131",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081131"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61459-1",
            "uniprot_ac": "P61459",
            "uniprot_id": "PHS_RAT",
            "refseq_ac": "NP_001007602",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pterin-4-alpha-carbinolamine dehydratase",
                    "type": "recommended"
                },
                {
                    "name": "4-alpha-hydroxy-tetrahydropterin dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "4.2.1.96",
                    "type": "synonym"
                },
                {
                    "name": "6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)",
                    "type": "synonym"
                },
                {
                    "name": "DCoH",
                    "type": "synonym"
                },
                {
                    "name": "Dimerization cofactor of HNF1",
                    "type": "synonym"
                },
                {
                    "name": "Dimerization cofactor of hepatocyte nuclear factor 1-alpha",
                    "type": "synonym"
                },
                {
                    "name": "PCD",
                    "type": "synonym"
                },
                {
                    "name": "PHS",
                    "type": "synonym"
                },
                {
                    "name": "Phenylalanine hydroxylase-stimulating protein",
                    "type": "synonym"
                },
                {
                    "name": "Pterin carbinolamine dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "dimerization cofactor of HNF1",
                    "type": "synonym"
                },
                {
                    "name": "phenylalanine hydroxylase-stimulating protein",
                    "type": "synonym"
                },
                {
                    "name": "pterin carbinolamine dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha",
                    "type": "synonym"
                },
                {
                    "name": "pterin-4-alpha-carbinolamine dehydratase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pcbd1",
                    "type": "recommended"
                },
                {
                    "name": "DCoH",
                    "type": "synonym"
                },
                {
                    "name": "Dcoh",
                    "type": "synonym"
                },
                {
                    "name": "Pcbd1",
                    "type": "synonym"
                },
                {
                    "name": "Pcbd",
                    "type": "synonym"
                },
                {
                    "name": "Pcd",
                    "type": "synonym"
                },
                {
                    "name": "Phs",
                    "type": "synonym"
                },
                {
                    "name": "TCF1",
                    "type": "synonym"
                }
            ],
            "record_id": "P61459-1",
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                {
                    "id": "0081131",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081131"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O76454-1",
            "uniprot_ac": "O76454",
            "uniprot_id": "PHS_DROME",
            "refseq_ac": "NP_477360",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pterin-4-alpha-carbinolamine dehydratase",
                    "type": "recommended"
                },
                {
                    "name": "4-alpha-hydroxy-tetrahydropterin dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "4.2.1.96",
                    "type": "synonym"
                },
                {
                    "name": "CG1963-PA",
                    "type": "synonym"
                },
                {
                    "name": "PCD",
                    "type": "synonym"
                },
                {
                    "name": "PHS",
                    "type": "synonym"
                },
                {
                    "name": "Pcd-PA",
                    "type": "synonym"
                },
                {
                    "name": "Pterin carbinolamine dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "pterin-4a-carbinolamine dehydratase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pcd",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LP07248",
                    "type": "synonym"
                },
                {
                    "name": "CG1963",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1963",
                    "type": "synonym"
                },
                {
                    "name": "PCD",
                    "type": "synonym"
                },
                {
                    "name": "Pcd",
                    "type": "synonym"
                },
                {
                    "name": "pCD",
                    "type": "synonym"
                }
            ],
            "record_id": "O76454-1",
            "evidence": [
                {
                    "id": "0081131",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081131"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UKV8-1",
            "uniprot_ac": "Q9UKV8",
            "uniprot_id": "AGO2_HUMAN",
            "refseq_ac": "NP_001158095",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein argonaute-2",
                    "type": "recommended"
                },
                {
                    "name": "3.1.26.n2",
                    "type": "synonym"
                },
                {
                    "name": "Argonaute RISC catalytic component 2",
                    "type": "synonym"
                },
                {
                    "name": "Argonaute2",
                    "type": "synonym"
                },
                {
                    "name": "Eukaryotic translation initiation factor 2C 2",
                    "type": "synonym"
                },
                {
                    "name": "PAZ Piwi domain protein",
                    "type": "synonym"
                },
                {
                    "name": "PPD",
                    "type": "synonym"
                },
                {
                    "name": "Protein slicer",
                    "type": "synonym"
                },
                {
                    "name": "argonaute 2, RISC catalytic component",
                    "type": "synonym"
                },
                {
                    "name": "cancer susceptibility candidate 7 (non-protein coding)",
                    "type": "synonym"
                },
                {
                    "name": "eIF-2C 2",
                    "type": "synonym"
                },
                {
                    "name": "eIF2C 2",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2C, 2",
                    "type": "synonym"
                },
                {
                    "name": "hAgo2",
                    "type": "synonym"
                },
                {
                    "name": "long intergenic non-protein coding RNA 980",
                    "type": "synonym"
                },
                {
                    "name": "protein argonaute-2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein argonaute-2",
                    "type": "synonym"
                },
                {
                    "name": "protein slicer",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AGO2",
                    "type": "recommended"
                },
                {
                    "name": "AGO2",
                    "type": "synonym"
                },
                {
                    "name": "CASC7",
                    "type": "synonym"
                },
                {
                    "name": "EIF2C2",
                    "type": "synonym"
                },
                {
                    "name": "LESKRES",
                    "type": "synonym"
                },
                {
                    "name": "LINC00980",
                    "type": "synonym"
                },
                {
                    "name": "PPD",
                    "type": "synonym"
                },
                {
                    "name": "Q10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UKV8-1",
            "evidence": [
                {
                    "id": "0081131",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081131"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081131"
}