{
    "disease_id": "DOID:0080769",
    "recommended_name": {
        "id": "DOID:0080769",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080769",
        "name": "early-onset vitamin B6-dependent epilepsy 1",
        "description": "A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23."
    },
    "synonyms": [
        {
            "id": "DOID:0080769",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080769",
            "name": "EPEO1",
            "description": ""
        },
        {
            "id": "DOID:0080769",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080769",
            "name": "PDE-PLPBP",
            "description": ""
        },
        {
            "id": "MONDO:0015005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015005",
            "name": "epilepsy, early-onset, vitamin B6-dependent",
            "description": "A pyridoxine-dependent epilepsy that has material basis in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23."
        },
        {
            "id": "MONDO:0015005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015005",
            "name": "EPVB6D",
            "description": ""
        },
        {
            "id": "MONDO:0015005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015005",
            "name": "epilepsy, early-onset, vitamin B6-dependent",
            "description": ""
        },
        {
            "id": "MONDO:0015005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015005",
            "name": "epilepsy, early-onset, vitamin B6-dependent; EPVB6D",
            "description": ""
        },
        {
            "id": "MIM:617290",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617290",
            "name": "Epilepsy, early-onset, 1, vitamin B6-dependent",
            "description": "Epilepsy, early-onset, 1, vitamin B6-dependent"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080769"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080769",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080769",
            "categories": []
        },
        {
            "id": "MONDO:0015005",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015005",
            "categories": []
        },
        {
            "id": "MIM:617290",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617290",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Z2Y8-1",
            "uniprot_ac": "Q9Z2Y8",
            "uniprot_id": "PLPHP_MOUSE",
            "refseq_ac": "NP_473398",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pyridoxal phosphate homeostasis protein",
                    "type": "recommended"
                },
                {
                    "name": "PLP homeostasis protein",
                    "type": "synonym"
                },
                {
                    "name": "Proline synthase co-transcribed bacterial homolog protein",
                    "type": "synonym"
                },
                {
                    "name": "Pyridoxal phosphate-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "proline synthase co-transcribed bacterial homolog protein",
                    "type": "synonym"
                },
                {
                    "name": "proline synthetase co-transcribed bacterial homolog protein",
                    "type": "synonym"
                },
                {
                    "name": "pyridoxal phosphate homeostasis protein isoform a",
                    "type": "synonym"
                },
                {
                    "name": "pyridoxal phosphate homeostasis protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plpbp",
                    "type": "recommended"
                },
                {
                    "name": "1700024N20Rik",
                    "type": "synonym"
                },
                {
                    "name": "2200002F22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Plpbp",
                    "type": "synonym"
                },
                {
                    "name": "Prosc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z2Y8-1",
            "evidence": [
                {
                    "id": "0080769",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080769"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O94903-1",
            "uniprot_ac": "O94903",
            "uniprot_id": "PLPHP_HUMAN",
            "refseq_ac": "NP_009129",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pyridoxal phosphate homeostasis protein",
                    "type": "recommended"
                },
                {
                    "name": "PLP homeostasis protein",
                    "type": "synonym"
                },
                {
                    "name": "Proline synthase co-transcribed bacterial homolog protein",
                    "type": "synonym"
                },
                {
                    "name": "Pyridoxal phosphate-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "proline synthase co-transcribed bacterial homolog protein",
                    "type": "synonym"
                },
                {
                    "name": "proline synthetase co-transcribed bacterial homolog protein",
                    "type": "synonym"
                },
                {
                    "name": "pyridoxal phosphate homeostasis protein isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "pyridoxal phosphate homeostasis protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PLPBP",
                    "type": "recommended"
                },
                {
                    "name": "EPEO1",
                    "type": "synonym"
                },
                {
                    "name": "EPVB6D",
                    "type": "synonym"
                },
                {
                    "name": "PLPBP",
                    "type": "synonym"
                },
                {
                    "name": "PROSC",
                    "type": "synonym"
                }
            ],
            "record_id": "O94903-1",
            "evidence": [
                {
                    "id": "617290",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617290"
                },
                {
                    "id": "0080769",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080769"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38197-1",
            "uniprot_ac": "P38197",
            "uniprot_id": "PLPHP_YEAST",
            "refseq_ac": "NP_009517",
            "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": "Pyridoxal phosphate homeostasis protein",
                    "type": "recommended"
                },
                {
                    "name": "PLP homeostasis protein",
                    "type": "synonym"
                },
                {
                    "name": "pyridoxal phosphate homeostasis protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YBL0413",
                    "type": "synonym"
                }
            ],
            "record_id": "P38197-1",
            "evidence": [
                {
                    "id": "0080769",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080769"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5YBG7-1",
            "uniprot_ac": "A0A8I5YBG7",
            "uniprot_id": "A0A8I5YBG7_RAT",
            "refseq_ac": "NP_001100790",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pyridoxal phosphate homeostasis protein",
                    "type": "recommended"
                },
                {
                    "name": "PLP homeostasis protein",
                    "type": "synonym"
                },
                {
                    "name": "Proline synthase co-transcribed bacterial homolog protein",
                    "type": "synonym"
                },
                {
                    "name": "proline synthase co-transcribed bacterial homolog protein",
                    "type": "synonym"
                },
                {
                    "name": "proline synthetase co-transcribed homolog",
                    "type": "synonym"
                },
                {
                    "name": "pyridoxal phosphate homeostasis protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plpbp",
                    "type": "recommended"
                },
                {
                    "name": "PROSC",
                    "type": "synonym"
                },
                {
                    "name": "Plpbp",
                    "type": "synonym"
                },
                {
                    "name": "Prosc",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5YBG7-1",
            "evidence": [
                {
                    "id": "0080769",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080769"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VA97-1",
            "uniprot_ac": "Q9VA97",
            "uniprot_id": "Q9VA97_DROME",
            "refseq_ac": "NP_001287602",
            "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 phosphate homeostasis protein",
                    "type": "recommended"
                },
                {
                    "name": "CG1983-PB",
                    "type": "synonym"
                },
                {
                    "name": "PLP homeostasis protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG1983",
                    "type": "recommended"
                },
                {
                    "name": "CG1983",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1983",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1983",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VA97-1",
            "evidence": [
                {
                    "id": "0080769",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080769"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080769"
}