{
    "disease_id": "DOID:0111329",
    "recommended_name": {
        "id": "DOID:0111329",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111329",
        "name": "pyridoxamine 5'-phosphate oxidase deficiency",
        "description": "A vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has_material_basis_in homozygous or compound heterozygous mutation in PNPO on 17q21.32."
    },
    "synonyms": [
        {
            "id": "DOID:0111329",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111329",
            "name": "PNPO deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111329",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111329",
            "name": "PNPO-related neonatal epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "DOID:0111329",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111329",
            "name": "pyridoxal 5'-phosphate-dependent epilepsy",
            "description": ""
        },
        {
            "id": "DOID:0111329",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111329",
            "name": "pyridoxal phosphate-dependent seizures",
            "description": ""
        },
        {
            "id": "DOID:0111329",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111329",
            "name": "pyridoxal phosphate-responsive seizures",
            "description": ""
        },
        {
            "id": "DOID:0111329",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111329",
            "name": "pyridoxamine 5'-oxidase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111329",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111329",
            "name": "pyridoxamine 5-prime-phosphate oxidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012407",
            "name": "pyridoxal phosphate-responsive seizures",
            "description": "A very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate."
        },
        {
            "id": "MONDO:0012407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012407",
            "name": "PNPO deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012407",
            "name": "PNPO-related neonatal epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012407",
            "name": "pyridox(am)ine 5-phosphate oxidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012407",
            "name": "pyridoxal phosphate-dependent seizures",
            "description": ""
        },
        {
            "id": "MONDO:0012407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012407",
            "name": "pyridoxamine 5'-phosphate oxidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012407",
            "name": "pyridoxine 5' phosphate oxidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012407",
            "name": "PNPOD",
            "description": ""
        },
        {
            "id": "MONDO:0012407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012407",
            "name": "pyridoxal 5'-phosphate-dependent epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0012407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012407",
            "name": "pyridoxine-5'-phosphate oxidase deficiency",
            "description": ""
        },
        {
            "id": "MIM:610090",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610090",
            "name": "Pyridoxine-5'-phosphate oxidase deficiency",
            "description": "Pyridoxine-5'-phosphate oxidase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111329"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111329",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111329",
            "categories": []
        },
        {
            "id": "MONDO:0012407",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012407",
            "categories": []
        },
        {
            "id": "MIM:610090",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610090",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1P3D4-1",
            "uniprot_ac": "A0A8M1P3D4",
            "uniprot_id": "A0A8M1P3D4_DANRE",
            "refseq_ac": "NP_001243107",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "pyridoxal 5'-phosphate synthase",
                    "type": "recommended"
                },
                {
                    "name": "1.4.3.5",
                    "type": "synonym"
                },
                {
                    "name": "pyridoxine 5'-phosphate oxidase",
                    "type": "synonym"
                },
                {
                    "name": "pyridoxine-5'-phosphate oxidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pnpo",
                    "type": "recommended"
                },
                {
                    "name": "im:7138360",
                    "type": "synonym"
                },
                {
                    "name": "pnpo",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1P3D4-1",
            "evidence": [
                {
                    "id": "0111329",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111329"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91XF0-1",
            "uniprot_ac": "Q91XF0",
            "uniprot_id": "PNPO_MOUSE",
            "refseq_ac": "NP_598782",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pyridoxine-5'-phosphate oxidase",
                    "type": "recommended"
                },
                {
                    "name": "1.4.3.5",
                    "type": "synonym"
                },
                {
                    "name": "Pyridoxamine-phosphate oxidase",
                    "type": "synonym"
                },
                {
                    "name": "pyridoxamine-phosphate oxidase",
                    "type": "synonym"
                },
                {
                    "name": "pyridoxine-5'-phosphate oxidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pnpo",
                    "type": "recommended"
                },
                {
                    "name": "Pnpo",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91XF0-1",
            "evidence": [
                {
                    "id": "0111329",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111329"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NVS9-1",
            "uniprot_ac": "Q9NVS9",
            "uniprot_id": "PNPO_HUMAN",
            "refseq_ac": "NP_060599",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pyridoxine-5'-phosphate oxidase",
                    "type": "recommended"
                },
                {
                    "name": "1.4.3.5",
                    "type": "synonym"
                },
                {
                    "name": "Pyridoxamine-phosphate oxidase",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory protein Li 302",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "pyridoxal 5'-phosphate synthase",
                    "type": "synonym"
                },
                {
                    "name": "pyridoxamine-phosphate oxidase",
                    "type": "synonym"
                },
                {
                    "name": "pyridoxine 5'-phosphate oxidase",
                    "type": "synonym"
                },
                {
                    "name": "pyridoxine-5'-phosphate oxidase isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PNPO",
                    "type": "recommended"
                },
                {
                    "name": "HEL-S-302",
                    "type": "synonym"
                },
                {
                    "name": "PDXPO",
                    "type": "synonym"
                },
                {
                    "name": "PNPO",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NVS9-1",
            "evidence": [
                {
                    "id": "610090",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610090"
                },
                {
                    "id": "0111329",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111329"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38075-1",
            "uniprot_ac": "P38075",
            "uniprot_id": "PDX3_YEAST",
            "refseq_ac": "NP_009591",
            "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": "Pyridoxamine 5'-phosphate oxidase",
                    "type": "recommended"
                },
                {
                    "name": "1.4.3.5",
                    "type": "synonym"
                },
                {
                    "name": "PNP/PMP oxidase",
                    "type": "synonym"
                },
                {
                    "name": "PNPOx",
                    "type": "synonym"
                },
                {
                    "name": "pyridoxamine-phosphate oxidase PDX3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PDX3",
                    "type": "recommended"
                },
                {
                    "name": "PDX3",
                    "type": "synonym"
                },
                {
                    "name": "YBR0321",
                    "type": "synonym"
                }
            ],
            "record_id": "P38075-1",
            "evidence": [
                {
                    "id": "0111329",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111329"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88794-1",
            "uniprot_ac": "O88794",
            "uniprot_id": "PNPO_RAT",
            "refseq_ac": "NP_072123",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pyridoxine-5'-phosphate oxidase",
                    "type": "recommended"
                },
                {
                    "name": "1.4.3.5",
                    "type": "synonym"
                },
                {
                    "name": "Pyridoxamine-phosphate oxidase",
                    "type": "synonym"
                },
                {
                    "name": "pyridoxamine-phosphate oxidase",
                    "type": "synonym"
                },
                {
                    "name": "pyridoxine 5-phosphate oxidase",
                    "type": "synonym"
                },
                {
                    "name": "pyridoxine-5'-phosphate oxidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pnpo",
                    "type": "recommended"
                },
                {
                    "name": "Pnpo",
                    "type": "synonym"
                }
            ],
            "record_id": "O88794-1",
            "evidence": [
                {
                    "id": "0111329",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111329"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VHZ5-1",
            "uniprot_ac": "Q9VHZ5",
            "uniprot_id": "Q9VHZ5_DROME",
            "refseq_ac": "NP_731186",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "pyridoxal 5'-phosphate synthase",
                    "type": "recommended"
                },
                {
                    "name": "1.4.3.5",
                    "type": "synonym"
                },
                {
                    "name": "CG31472-PA",
                    "type": "synonym"
                },
                {
                    "name": "pyridoxine 5'-phosphate oxidase",
                    "type": "synonym"
                },
                {
                    "name": "sgll-PA",
                    "type": "synonym"
                },
                {
                    "name": "sugarlethal, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sgll",
                    "type": "recommended"
                },
                {
                    "name": "CG2649",
                    "type": "synonym"
                },
                {
                    "name": "CG31472",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31472",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31472",
                    "type": "synonym"
                },
                {
                    "name": "Sgll",
                    "type": "synonym"
                },
                {
                    "name": "dPNPO",
                    "type": "synonym"
                },
                {
                    "name": "sgll",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VHZ5-1",
            "evidence": [
                {
                    "id": "0111329",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111329"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111329"
}