{
    "disease_id": "DOID:0051090",
    "recommended_name": {
        "id": "DOID:0051090",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051090",
        "name": "developmental and epileptic encephalopathy 121",
        "description": "A developmental and epileptic encephalopathy that is characterized by neonatal- or infantile-onset epilepsy, global developmental delay or intellectual disability, and death in infancy, childhood, or early adulthood and that has_material_basis_in homozygous mutation in the LGI1 gene on chromosome 10q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0980966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980966",
            "name": "developmental and epileptic encephalopathy 121",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051090"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051090",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051090",
            "categories": []
        },
        {
            "id": "MONDO:0980966",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980966",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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": "621475",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621475"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051090"
}