{
    "disease_id": "DOID:0070519",
    "recommended_name": {
        "id": "DOID:0070519",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070519",
        "name": "early-onset vitamin B6-dependent epilepsy 4",
        "description": "A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the ALDH7A1 gene on chromosome 5q23.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070519",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070519",
            "name": "AASA dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0070519",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070519",
            "name": "EPEO4",
            "description": ""
        },
        {
            "id": "DOID:0070519",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070519",
            "name": "PDE-ALDH7A1",
            "description": ""
        },
        {
            "id": "DOID:0070519",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070519",
            "name": "antiquitin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0020741",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020741",
            "name": "pyridoxine-dependent epilepsy caused by ALDH7A1 mutant",
            "description": ""
        },
        {
            "id": "MONDO:0020741",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020741",
            "name": "pyridoxine-dependent epilepsy caused by ALDH7A1 mutant",
            "description": ""
        },
        {
            "id": "MONDO:0020741",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020741",
            "name": "EPD",
            "description": ""
        },
        {
            "id": "MONDO:0020741",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020741",
            "name": "epilepsy, pyridoxine-dependent",
            "description": ""
        },
        {
            "id": "MIM:266100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/266100",
            "name": "Epilepsy, early-onset, 4, vitamin B6-dependent",
            "description": "Epilepsy, early-onset, 4, vitamin B6-dependent"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070519"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070519",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070519",
            "categories": []
        },
        {
            "id": "MONDO:0020741",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020741",
            "categories": []
        },
        {
            "id": "MIM:266100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/266100",
            "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": "0070519",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070519"
                }
            ]
        },
        {
            "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": "0070519",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070519"
                }
            ]
        },
        {
            "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": "266100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/266100"
                },
                {
                    "id": "0070519",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070519"
                }
            ]
        },
        {
            "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": "0070519",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070519"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070519"
}