{
    "disease_id": "DOID:0080715",
    "recommended_name": {
        "id": "DOID:0080715",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080715",
        "name": "developmental and epileptic encephalopathy 82",
        "description": "A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21."
    },
    "synonyms": [
        {
            "id": "DOID:0080715",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080715",
            "name": "early infantile epileptic encephalopathy 82",
            "description": ""
        },
        {
            "id": "DOID:0080715",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080715",
            "name": "DEE82",
            "description": ""
        },
        {
            "id": "MONDO:0032880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032880",
            "name": "developmental and epileptic encephalopathy, 82",
            "description": ""
        },
        {
            "id": "MONDO:0032880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032880",
            "name": "DEE82",
            "description": ""
        },
        {
            "id": "MONDO:0032880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032880",
            "name": "EIEE82",
            "description": ""
        },
        {
            "id": "MONDO:0032880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032880",
            "name": "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82",
            "description": ""
        },
        {
            "id": "MONDO:0032880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032880",
            "name": "developmental and epileptic encephalopathy 82",
            "description": ""
        },
        {
            "id": "MONDO:0032880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032880",
            "name": "epileptic encephalopathy, early infantile, 82",
            "description": ""
        },
        {
            "id": "MIM:618721",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618721",
            "name": "Developmental and epileptic encephalopathy 82",
            "description": "Developmental and epileptic encephalopathy 82"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080715"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080715",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080715",
            "categories": []
        },
        {
            "id": "MONDO:0032880",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032880",
            "categories": []
        },
        {
            "id": "MIM:618721",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618721",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7SYK7-1",
            "uniprot_ac": "Q7SYK7",
            "uniprot_id": "AATM_DANRE",
            "refseq_ac": "NP_998544",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aspartate aminotransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.1",
                    "type": "synonym"
                },
                {
                    "name": "2.6.1.7",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate oxaloacetate transaminase 2a",
                    "type": "synonym"
                },
                {
                    "name": "Glutamic-oxaloacetic transaminase 2a, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Kynurenine aminotransferase 4",
                    "type": "synonym"
                },
                {
                    "name": "Kynurenine aminotransferase IV",
                    "type": "synonym"
                },
                {
                    "name": "Kynurenine--oxoglutarate transaminase 4",
                    "type": "synonym"
                },
                {
                    "name": "Kynurenine--oxoglutarate transaminase IV",
                    "type": "synonym"
                },
                {
                    "name": "Transaminase A",
                    "type": "synonym"
                },
                {
                    "name": "aspartate aminotransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "glutamate oxaloacetate transaminase 2a",
                    "type": "synonym"
                },
                {
                    "name": "glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)",
                    "type": "synonym"
                },
                {
                    "name": "glutamic-oxaloacetic transaminase 2a, mitochondrial (aspartate aminotransferase 2)",
                    "type": "synonym"
                },
                {
                    "name": "kynurenine aminotransferase 4",
                    "type": "synonym"
                },
                {
                    "name": "kynurenine aminotransferase IV",
                    "type": "synonym"
                },
                {
                    "name": "kynurenine--oxoglutarate transaminase 4",
                    "type": "synonym"
                },
                {
                    "name": "kynurenine--oxoglutarate transaminase IV",
                    "type": "synonym"
                },
                {
                    "name": "mAspAT",
                    "type": "synonym"
                },
                {
                    "name": "transaminase A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "got2a",
                    "type": "recommended"
                },
                {
                    "name": "got2a",
                    "type": "synonym"
                },
                {
                    "name": "got2",
                    "type": "synonym"
                },
                {
                    "name": "mAspAT",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66329",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7SYK7-1",
            "evidence": [
                {
                    "id": "0080715",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080715"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05202-1",
            "uniprot_ac": "P05202",
            "uniprot_id": "AATM_MOUSE",
            "refseq_ac": "NP_034455",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aspartate aminotransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.1",
                    "type": "synonym"
                },
                {
                    "name": "2.6.1.7",
                    "type": "synonym"
                },
                {
                    "name": "FABP-1",
                    "type": "synonym"
                },
                {
                    "name": "FABPpm",
                    "type": "synonym"
                },
                {
                    "name": "Fatty acid-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate oxaloacetate transaminase 2",
                    "type": "synonym"
                },
                {
                    "name": "Kynurenine aminotransferase 4",
                    "type": "synonym"
                },
                {
                    "name": "Kynurenine aminotransferase IV",
                    "type": "synonym"
                },
                {
                    "name": "Kynurenine--oxoglutarate transaminase 4",
                    "type": "synonym"
                },
                {
                    "name": "Kynurenine--oxoglutarate transaminase IV",
                    "type": "synonym"
                },
                {
                    "name": "Plasma membrane-associated fatty acid-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Transaminase A",
                    "type": "synonym"
                },
                {
                    "name": "aspartate aminotransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "fatty acid-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "glutamate oxaloacetate transaminase 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "kynurenine aminotransferase 4",
                    "type": "synonym"
                },
                {
                    "name": "kynurenine aminotransferase IV",
                    "type": "synonym"
                },
                {
                    "name": "kynurenine--oxoglutarate transaminase 4",
                    "type": "synonym"
                },
                {
                    "name": "kynurenine--oxoglutarate transaminase IV",
                    "type": "synonym"
                },
                {
                    "name": "mAspAT",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial aspartate aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane fatty acid binding protein",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane-associated fatty acid-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "transaminase A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Got2",
                    "type": "recommended"
                },
                {
                    "name": "FABP-pm",
                    "type": "synonym"
                },
                {
                    "name": "Got-2",
                    "type": "synonym"
                },
                {
                    "name": "Got2",
                    "type": "synonym"
                },
                {
                    "name": "Kyat4",
                    "type": "synonym"
                },
                {
                    "name": "mAspAT",
                    "type": "synonym"
                }
            ],
            "record_id": "P05202-1",
            "evidence": [
                {
                    "id": "0080715",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080715"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00505-1",
            "uniprot_ac": "P00505",
            "uniprot_id": "AATM_HUMAN",
            "refseq_ac": "NP_001273149",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aspartate aminotransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.1",
                    "type": "synonym"
                },
                {
                    "name": "2.6.1.7",
                    "type": "synonym"
                },
                {
                    "name": "FABP-1",
                    "type": "synonym"
                },
                {
                    "name": "FABPpm",
                    "type": "synonym"
                },
                {
                    "name": "Fatty acid-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate oxaloacetate transaminase 2",
                    "type": "synonym"
                },
                {
                    "name": "Kynurenine aminotransferase 4",
                    "type": "synonym"
                },
                {
                    "name": "Kynurenine aminotransferase IV",
                    "type": "synonym"
                },
                {
                    "name": "Kynurenine--oxoglutarate transaminase 4",
                    "type": "synonym"
                },
                {
                    "name": "Kynurenine--oxoglutarate transaminase IV",
                    "type": "synonym"
                },
                {
                    "name": "Plasma membrane-associated fatty acid-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Transaminase A",
                    "type": "synonym"
                },
                {
                    "name": "aspartate aminotransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "aspartate aminotransferase, mitochondrial isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "aspartate aminotransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "aspartate transaminase 2",
                    "type": "synonym"
                },
                {
                    "name": "fatty acid-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "glutamate oxaloacetate transaminase 2",
                    "type": "synonym"
                },
                {
                    "name": "glutamic-oxaloacetic transaminase 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "kynurenine aminotransferase 4",
                    "type": "synonym"
                },
                {
                    "name": "kynurenine aminotransferase IV",
                    "type": "synonym"
                },
                {
                    "name": "kynurenine--oxoglutarate transaminase 4",
                    "type": "synonym"
                },
                {
                    "name": "kynurenine--oxoglutarate transaminase IV",
                    "type": "synonym"
                },
                {
                    "name": "mAspAT",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane-associated fatty acid-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "transaminase A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GOT2",
                    "type": "recommended"
                },
                {
                    "name": "DEE82",
                    "type": "synonym"
                },
                {
                    "name": "GOT2",
                    "type": "synonym"
                },
                {
                    "name": "KAT4",
                    "type": "synonym"
                },
                {
                    "name": "KATIV",
                    "type": "synonym"
                },
                {
                    "name": "KYAT4",
                    "type": "synonym"
                },
                {
                    "name": "mitAAT",
                    "type": "synonym"
                }
            ],
            "record_id": "P00505-1",
            "evidence": [
                {
                    "id": "618721",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618721"
                },
                {
                    "id": "0080715",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080715"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23542-1",
            "uniprot_ac": "P23542",
            "uniprot_id": "AATC_YEAST",
            "refseq_ac": "NP_013127",
            "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": "Aspartate aminotransferase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.1",
                    "type": "synonym"
                },
                {
                    "name": "Transaminase A",
                    "type": "synonym"
                },
                {
                    "name": "aspartate transaminase AAT2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AAT2",
                    "type": "recommended"
                },
                {
                    "name": "AAT2",
                    "type": "synonym"
                },
                {
                    "name": "ASP5",
                    "type": "synonym"
                },
                {
                    "name": "L1746",
                    "type": "synonym"
                },
                {
                    "name": "THR5",
                    "type": "synonym"
                }
            ],
            "record_id": "P23542-1",
            "evidence": [
                {
                    "id": "0080715",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080715"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01802-1",
            "uniprot_ac": "Q01802",
            "uniprot_id": "AATM_YEAST",
            "refseq_ac": "NP_012816",
            "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": "Aspartate aminotransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.1",
                    "type": "synonym"
                },
                {
                    "name": "Transaminase A",
                    "type": "synonym"
                },
                {
                    "name": "aspartate transaminase AAT1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AAT1",
                    "type": "recommended"
                },
                {
                    "name": "AAT1",
                    "type": "synonym"
                },
                {
                    "name": "YKL461",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01802-1",
            "evidence": [
                {
                    "id": "0080715",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080715"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00507-1",
            "uniprot_ac": "P00507",
            "uniprot_id": "AATM_RAT",
            "refseq_ac": "NP_037309",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aspartate aminotransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.1",
                    "type": "synonym"
                },
                {
                    "name": "2.6.1.7",
                    "type": "synonym"
                },
                {
                    "name": "FABP-1",
                    "type": "synonym"
                },
                {
                    "name": "FABPpm",
                    "type": "synonym"
                },
                {
                    "name": "Fatty acid-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate oxaloacetate transaminase 2, mitochondrial (aspartate aminotransferase 2)",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate oxaloacetate transaminase 2",
                    "type": "synonym"
                },
                {
                    "name": "Kynurenine aminotransferase 4",
                    "type": "synonym"
                },
                {
                    "name": "Kynurenine aminotransferase IV",
                    "type": "synonym"
                },
                {
                    "name": "Kynurenine--oxoglutarate transaminase 4",
                    "type": "synonym"
                },
                {
                    "name": "Kynurenine--oxoglutarate transaminase IV",
                    "type": "synonym"
                },
                {
                    "name": "Plasma membrane-associated fatty acid-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Transaminase A",
                    "type": "synonym"
                },
                {
                    "name": "aspartate aminotransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "fatty acid-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)",
                    "type": "synonym"
                },
                {
                    "name": "kynurenine aminotransferase 4",
                    "type": "synonym"
                },
                {
                    "name": "kynurenine aminotransferase IV",
                    "type": "synonym"
                },
                {
                    "name": "kynurenine--oxoglutarate transaminase 4",
                    "type": "synonym"
                },
                {
                    "name": "kynurenine--oxoglutarate transaminase IV",
                    "type": "synonym"
                },
                {
                    "name": "mAspAT",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane-associated fatty acid-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "transaminase A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Got2",
                    "type": "recommended"
                },
                {
                    "name": "ASPATA",
                    "type": "synonym"
                },
                {
                    "name": "Got2",
                    "type": "synonym"
                },
                {
                    "name": "Maat",
                    "type": "synonym"
                },
                {
                    "name": "mAAT",
                    "type": "synonym"
                }
            ],
            "record_id": "P00507-1",
            "evidence": [
                {
                    "id": "0080715",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080715"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GJR0-1",
            "uniprot_ac": "A0A8I6GJR0",
            "uniprot_id": "A0A8I6GJR0_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aspartate aminotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Got2-ps6",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6GJR0-1",
            "evidence": [
                {
                    "id": "0080715",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080715"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IPY3-1",
            "uniprot_ac": "Q8IPY3",
            "uniprot_id": "Q8IPY3_DROME",
            "refseq_ac": "NP_722745",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aspartate aminotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.1",
                    "type": "synonym"
                },
                {
                    "name": "CG4233-PB",
                    "type": "synonym"
                },
                {
                    "name": "GLUTAMATE OXALOACETATE TRANSAMINASE 2",
                    "type": "synonym"
                },
                {
                    "name": "Got2-PB",
                    "type": "synonym"
                },
                {
                    "name": "glutamate oxaloacetate transaminase 2, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial aspartate aminotransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Got2",
                    "type": "recommended"
                },
                {
                    "name": "152801_at",
                    "type": "synonym"
                },
                {
                    "name": "CG4233",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4233",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4233",
                    "type": "synonym"
                },
                {
                    "name": "Got 2",
                    "type": "synonym"
                },
                {
                    "name": "Got-2",
                    "type": "synonym"
                },
                {
                    "name": "Got2",
                    "type": "synonym"
                },
                {
                    "name": "Got",
                    "type": "synonym"
                },
                {
                    "name": "got2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IPY3-1",
            "evidence": [
                {
                    "id": "0080715",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080715"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080715"
}