{
    "disease_id": "DOID:0080471",
    "recommended_name": {
        "id": "DOID:0080471",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080471",
        "name": "developmental and epileptic encephalopathy 92",
        "description": "A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34."
    },
    "synonyms": [
        {
            "id": "MONDO:0020631",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020631",
            "name": "developmental and epileptic encephalopathy 92",
            "description": ""
        },
        {
            "id": "MONDO:0020631",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020631",
            "name": "DEE92",
            "description": ""
        },
        {
            "id": "MONDO:0020631",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020631",
            "name": "IECEE2",
            "description": ""
        },
        {
            "id": "MONDO:0020631",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020631",
            "name": "developmental and epileptic encephalopathy 92",
            "description": ""
        },
        {
            "id": "MONDO:0020631",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020631",
            "name": "epileptic encephalopathy, infantile or early childhood, 2",
            "description": ""
        },
        {
            "id": "MIM:617829",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617829",
            "name": "Epileptic encephalopathy, infantile or early childhood, 2",
            "description": "Epileptic encephalopathy, infantile or early childhood, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080471"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080471",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080471",
            "categories": []
        },
        {
            "id": "MONDO:0020631",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020631",
            "categories": []
        },
        {
            "id": "MIM:617829",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617829",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BKD0-1",
            "uniprot_ac": "A0A8M2BKD0",
            "uniprot_id": "A0A8M2BKD0_DANRE",
            "refseq_ac": "XP_005173160",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gamma-aminobutyric acid receptor subunit beta-2a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit beta-2a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gabrb2a",
                    "type": "recommended"
                },
                {
                    "name": "fj59e04",
                    "type": "synonym"
                },
                {
                    "name": "gabaabeta2",
                    "type": "synonym"
                },
                {
                    "name": "gabrb2a",
                    "type": "synonym"
                },
                {
                    "name": "gabrb2",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-215g18.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj59e04",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136311",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BKD0-1",
            "evidence": [
                {
                    "id": "0080471",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080471"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63137-1",
            "uniprot_ac": "P63137",
            "uniprot_id": "GBRB2_MOUSE",
            "refseq_ac": "NP_001334243",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gamma-aminobutyric acid receptor subunit beta-2",
                    "type": "recommended"
                },
                {
                    "name": "GABA(A) receptor subunit beta-2",
                    "type": "synonym"
                },
                {
                    "name": "GABAAR subunit beta-2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid (GABA) A receptor, subunit beta 2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid A receptor, subunit beta 2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor beta-2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit beta-2 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit beta-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gabrb2",
                    "type": "recommended"
                },
                {
                    "name": "C030002O17Rik",
                    "type": "synonym"
                },
                {
                    "name": "C030021G16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gabrab2",
                    "type": "synonym"
                },
                {
                    "name": "Gabrb-2",
                    "type": "synonym"
                },
                {
                    "name": "Gabrb2",
                    "type": "synonym"
                }
            ],
            "record_id": "P63137-1",
            "evidence": [
                {
                    "id": "0080471",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080471"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47870-2",
            "uniprot_ac": "P47870",
            "uniprot_id": "GBRB2_HUMAN",
            "refseq_ac": "NP_000804",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gamma-aminobutyric acid receptor subunit beta-2",
                    "type": "recommended"
                },
                {
                    "name": "GABA(A) receptor subunit beta-2",
                    "type": "synonym"
                },
                {
                    "name": "GABAAR subunit beta-2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid A receptor beta 2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit beta-2 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid type A receptor beta2 subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GABRB2",
                    "type": "recommended"
                },
                {
                    "name": "DEE92",
                    "type": "synonym"
                },
                {
                    "name": "GABRB2",
                    "type": "synonym"
                },
                {
                    "name": "ICEE2",
                    "type": "synonym"
                }
            ],
            "record_id": "P47870-2",
            "evidence": [
                {
                    "id": "617829",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617829"
                },
                {
                    "id": "0080471",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080471"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63138-1",
            "uniprot_ac": "P63138",
            "uniprot_id": "GBRB2_RAT",
            "refseq_ac": "NP_037089",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gamma-aminobutyric acid receptor subunit beta-2",
                    "type": "recommended"
                },
                {
                    "name": "GABA(A) receptor subunit beta-2",
                    "type": "synonym"
                },
                {
                    "name": "GABAAR subunit beta-2",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-aminobutyric acid receptor beta 2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid (GABA) A receptor, beta 2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid (GABA-A) receptor, subunit beta 2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit beta-2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit beta-2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid type A receptor beta 2 subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gabrb2",
                    "type": "recommended"
                },
                {
                    "name": "GARB2",
                    "type": "synonym"
                },
                {
                    "name": "Gabrb-2",
                    "type": "synonym"
                },
                {
                    "name": "Gabrb2",
                    "type": "synonym"
                }
            ],
            "record_id": "P63138-1",
            "evidence": [
                {
                    "id": "0080471",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080471"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08832-1",
            "uniprot_ac": "Q08832",
            "uniprot_id": "GBRB3_DROME",
            "refseq_ac": "NP_996469",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gamma-aminobutyric acid receptor subunit beta-like",
                    "type": "recommended"
                },
                {
                    "name": "CG17336-PC",
                    "type": "synonym"
                },
                {
                    "name": "GABA receptor beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "GABA(A) receptor",
                    "type": "synonym"
                },
                {
                    "name": "Lcch3-PC",
                    "type": "synonym"
                },
                {
                    "name": "Ligand-gated chloride channel homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "ligand-gated chloride channel homologue 3",
                    "type": "synonym"
                },
                {
                    "name": "ligand-gated chloride channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lcch3",
                    "type": "recommended"
                },
                {
                    "name": "CG17336",
                    "type": "synonym"
                },
                {
                    "name": "CT38330",
                    "type": "synonym"
                },
                {
                    "name": "DmGABAbeta",
                    "type": "synonym"
                },
                {
                    "name": "DmGA_b",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17336",
                    "type": "synonym"
                },
                {
                    "name": "LCCH3",
                    "type": "synonym"
                },
                {
                    "name": "Lcch3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08832-1",
            "evidence": [
                {
                    "id": "0080471",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080471"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080471"
}