{
    "disease_id": "DOID:0060748",
    "recommended_name": {
        "id": "DOID:0060748",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060748",
        "name": "familial temporal lobe epilepsy 1",
        "description": "A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24."
    },
    "synonyms": [
        {
            "id": "DOID:0060748",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060748",
            "name": "ETL1",
            "description": ""
        },
        {
            "id": "DOID:0060748",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060748",
            "name": "partial epilepsy with auditory features",
            "description": ""
        },
        {
            "id": "MONDO:0700090",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700090",
            "name": "epilepsy, familial temporal lobe, 1",
            "description": "An autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1. It is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations."
        },
        {
            "id": "MONDO:0700090",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700090",
            "name": "ADLTE",
            "description": ""
        },
        {
            "id": "MONDO:0700090",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700090",
            "name": "ADPEAF",
            "description": ""
        },
        {
            "id": "MONDO:0700090",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700090",
            "name": "ETL1",
            "description": ""
        },
        {
            "id": "MONDO:0700090",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700090",
            "name": "epilepsy, familial temporal lobe, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0700090",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700090",
            "name": "epilepsy, lateral temporal lobe, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0700090",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700090",
            "name": "epilepsy, partial, with auditory features",
            "description": ""
        },
        {
            "id": "MIM:600512",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600512",
            "name": "Epilepsy, familial temporal lobe, 1",
            "description": "Epilepsy, familial temporal lobe, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060748"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060748",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060748",
            "categories": []
        },
        {
            "id": "MONDO:0700090",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700090",
            "categories": []
        },
        {
            "id": "MIM:600512",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600512",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9JIA1-1",
            "uniprot_ac": "Q9JIA1",
            "uniprot_id": "LGI1_MOUSE",
            "refseq_ac": "NP_064674",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich glioma-inactivated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "leucine-rich glioma-inactivated protein 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich glioma-inactivated protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lgi1",
                    "type": "recommended"
                },
                {
                    "name": "Lgi1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JIA1-1",
            "evidence": [
                {
                    "id": "0060748",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060748"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95970-1",
            "uniprot_ac": "O95970",
            "uniprot_id": "LGI1_HUMAN",
            "refseq_ac": "NP_001295204",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich glioma-inactivated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Epitempin-1",
                    "type": "synonym"
                },
                {
                    "name": "epitempin-1",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich glioma-inactivated protein 1 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich glioma-inactivated protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LGI1",
                    "type": "recommended"
                },
                {
                    "name": "ADLTE",
                    "type": "synonym"
                },
                {
                    "name": "ADPAEF",
                    "type": "synonym"
                },
                {
                    "name": "ADPEAF",
                    "type": "synonym"
                },
                {
                    "name": "DEE121",
                    "type": "synonym"
                },
                {
                    "name": "EPITEMPIN",
                    "type": "synonym"
                },
                {
                    "name": "EPT",
                    "type": "synonym"
                },
                {
                    "name": "ETL1",
                    "type": "synonym"
                },
                {
                    "name": "IB1099",
                    "type": "synonym"
                },
                {
                    "name": "LGI1",
                    "type": "synonym"
                },
                {
                    "name": "PRO1569",
                    "type": "synonym"
                }
            ],
            "record_id": "O95970-1",
            "evidence": [
                {
                    "id": "600512",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600512"
                },
                {
                    "id": "0060748",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060748"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K4Y5-1",
            "uniprot_ac": "Q8K4Y5",
            "uniprot_id": "LGI1_RAT",
            "refseq_ac": "NP_665712",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich glioma-inactivated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "leucine-rich glioma-inactivated protein 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich glioma-inactivated protein 1-like",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich glioma-inactivated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat LGI family, member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lgi1",
                    "type": "recommended"
                },
                {
                    "name": "Lgi1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K4Y5-1",
            "evidence": [
                {
                    "id": "0060748",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060748"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060748"
}