{
    "disease_id": "DOID:0080768",
    "recommended_name": {
        "id": "DOID:0080768",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080768",
        "name": "pyridoxine-dependent epilepsy",
        "description": "An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine."
    },
    "synonyms": [],
    "children": [
        {
            "id": "DOID:0070519",
            "label": "early-onset vitamin B6-dependent epilepsy 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080769",
            "label": "early-onset vitamin B6-dependent epilepsy 1",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080768",
        "DOID:0070519",
        "DOID:0080769"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080768",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080768",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1PLI9-1",
            "uniprot_ac": "A0A8M1PLI9",
            "uniprot_id": "AL7A1_DANRE",
            "refseq_ac": "NP_997889",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-aminoadipic semialdehyde dehydrogenase",
                    "type": "recommended"
                },
                {
                    "name": "1.2.1.31",
                    "type": "synonym"
                },
                {
                    "name": "1.2.1.3",
                    "type": "synonym"
                },
                {
                    "name": "1.2.1.8",
                    "type": "synonym"
                },
                {
                    "name": "Aldehyde dehydrogenase family 7 member A1",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-AASA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Betaine aldehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde dehydrogenase family 7 member A1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-AASA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-aminoadipic semialdehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "betaine aldehyde dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "aldh7a1",
                    "type": "recommended"
                },
                {
                    "name": "ATQ",
                    "type": "synonym"
                },
                {
                    "name": "aldh7a1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi34d12",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi35e06",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1PLI9-1",
            "evidence": [
                {
                    "id": "0080768",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080768"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DBF1-1",
            "uniprot_ac": "Q9DBF1",
            "uniprot_id": "AL7A1_MOUSE",
            "refseq_ac": "NP_001120810",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-aminoadipic semialdehyde dehydrogenase",
                    "type": "recommended"
                },
                {
                    "name": "1.2.1.31",
                    "type": "synonym"
                },
                {
                    "name": "1.2.1.3",
                    "type": "synonym"
                },
                {
                    "name": "1.2.1.8",
                    "type": "synonym"
                },
                {
                    "name": "Aldehyde dehydrogenase family 7 member A1",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-AASA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Antiquitin-1",
                    "type": "synonym"
                },
                {
                    "name": "Betaine aldehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Delta1-piperideine-6-carboxylate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "P6c dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde dehydrogenase 7 family, member A1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-AASA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-aminoadipic semialdehyde dehydrogenase isoform b",
                    "type": "synonym"
                },
                {
                    "name": "alpha-aminoadipic semialdehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "antiquitin-1",
                    "type": "synonym"
                },
                {
                    "name": "betaine aldehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "delta1-piperideine-6-carboxylate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "delta1-piperideine-6-carboxylate dehydrogenease",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aldh7a1",
                    "type": "recommended"
                },
                {
                    "name": "Ald7a1",
                    "type": "synonym"
                },
                {
                    "name": "Aldh7a1",
                    "type": "synonym"
                },
                {
                    "name": "Atq1",
                    "type": "synonym"
                },
                {
                    "name": "D18Wsu181e",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DBF1-1",
            "evidence": [
                {
                    "id": "0080768",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080768"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64057-1",
            "uniprot_ac": "Q64057",
            "uniprot_id": "AL7A1_RAT",
            "refseq_ac": "NP_001258034",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-aminoadipic semialdehyde dehydrogenase",
                    "type": "recommended"
                },
                {
                    "name": "1.2.1.31",
                    "type": "synonym"
                },
                {
                    "name": "1.2.1.3",
                    "type": "synonym"
                },
                {
                    "name": "1.2.1.8",
                    "type": "synonym"
                },
                {
                    "name": "Aldehyde dehydrogenase family 7 member A1",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-AASA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Antiquitin-1",
                    "type": "synonym"
                },
                {
                    "name": "Betaine aldehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Delta1-piperideine-6-carboxylate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "P6c dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde dehydrogenase family 7 member A1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-AASA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-aminoadipic semialdehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "antiquitin-1",
                    "type": "synonym"
                },
                {
                    "name": "betaine aldehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "delta1-piperideine-6-carboxylate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "delta1-piperideine-6-carboxylate dehydrogenease",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aldh7a1",
                    "type": "recommended"
                },
                {
                    "name": "Ald7a1",
                    "type": "synonym"
                },
                {
                    "name": "Aldh7a1",
                    "type": "synonym"
                },
                {
                    "name": "antiquitin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64057-1",
            "evidence": [
                {
                    "id": "0080768",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080768"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49419-1",
            "uniprot_ac": "P49419",
            "uniprot_id": "AL7A1_HUMAN",
            "refseq_ac": "NP_001173",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-aminoadipic semialdehyde dehydrogenase",
                    "type": "recommended"
                },
                {
                    "name": "1.2.1.31",
                    "type": "synonym"
                },
                {
                    "name": "1.2.1.3",
                    "type": "synonym"
                },
                {
                    "name": "1.2.1.8",
                    "type": "synonym"
                },
                {
                    "name": "26g turgor protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Aldehyde dehydrogenase family 7 member A1",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-AASA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Antiquitin-1",
                    "type": "synonym"
                },
                {
                    "name": "Betaine aldehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Delta1-piperideine-6-carboxylate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "P6c dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-AASA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-aminoadipic semialdehyde dehydrogenase isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "alpha-aminoadipic semialdehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "antiquitin-1",
                    "type": "synonym"
                },
                {
                    "name": "betaine aldehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "delta1-piperideine-6-carboxylate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALDH7A1",
                    "type": "recommended"
                },
                {
                    "name": "ALDH7A1",
                    "type": "synonym"
                },
                {
                    "name": "ATQ1",
                    "type": "synonym"
                },
                {
                    "name": "EPD",
                    "type": "synonym"
                },
                {
                    "name": "EPEO4",
                    "type": "synonym"
                },
                {
                    "name": "PDE",
                    "type": "synonym"
                }
            ],
            "record_id": "P49419-1",
            "evidence": [
                {
                    "id": "0080768",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080768"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080768"
}