{
    "disease_id": "DOID:0080291",
    "recommended_name": {
        "id": "DOID:0080291",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080291",
        "name": "developmental and epileptic encephalopathy 59",
        "description": "A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22."
    },
    "synonyms": [
        {
            "id": "DOID:0080291",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080291",
            "name": "early infantile epileptic encephalopathy 59",
            "description": ""
        },
        {
            "id": "DOID:0080291",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080291",
            "name": "DEE59",
            "description": ""
        },
        {
            "id": "MONDO:0033368",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033368",
            "name": "developmental and epileptic encephalopathy, 59",
            "description": ""
        },
        {
            "id": "MONDO:0033368",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033368",
            "name": "DEE59",
            "description": ""
        },
        {
            "id": "MONDO:0033368",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033368",
            "name": "EIEE59",
            "description": ""
        },
        {
            "id": "MONDO:0033368",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033368",
            "name": "developmental and epileptic encephalopathy 59",
            "description": ""
        },
        {
            "id": "MONDO:0033368",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033368",
            "name": "epileptic encephalopathy, early infantile, 59",
            "description": ""
        },
        {
            "id": "MONDO:0033368",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033368",
            "name": "infantile epileptic encephalopathy 59",
            "description": ""
        },
        {
            "id": "MIM:617904",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617904",
            "name": "Developmental and epileptic encephalopathy 59",
            "description": "Developmental and epileptic encephalopathy 59"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080291"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080291",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080291",
            "categories": []
        },
        {
            "id": "MONDO:0033368",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033368",
            "categories": []
        },
        {
            "id": "MIM:617904",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617904",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1LUN9-1",
            "uniprot_ac": "Q1LUN9",
            "uniprot_id": "Q1LUN9_DANRE",
            "refseq_ac": "NP_001137515",
            "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 type B receptor subunit 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid type B receptor subunit 2 precursor",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "gabbr2",
                    "type": "recommended"
                },
                {
                    "name": "gabbr2",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-190l1.2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1LUN9-1",
            "evidence": [
                {
                    "id": "0080291",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080291"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80T41-1",
            "uniprot_ac": "Q80T41",
            "uniprot_id": "GABR2_MOUSE",
            "refseq_ac": "NP_001074610",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Gamma-aminobutyric acid type B receptor subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "G protein-coupled receptor 51",
                    "type": "synonym"
                },
                {
                    "name": "GABA-B receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "GABA-B-R2",
                    "type": "synonym"
                },
                {
                    "name": "GABA-BR2",
                    "type": "synonym"
                },
                {
                    "name": "GABABR2",
                    "type": "synonym"
                },
                {
                    "name": "Gb2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid (GABA) B receptor, 2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid type B receptor subunit 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "ortholog of human G protein-coupled receptor 51 GPR51",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gabbr2",
                    "type": "recommended"
                },
                {
                    "name": "GABABR2",
                    "type": "synonym"
                },
                {
                    "name": "Gabbr2",
                    "type": "synonym"
                },
                {
                    "name": "Gb2",
                    "type": "synonym"
                },
                {
                    "name": "Gm425",
                    "type": "synonym"
                },
                {
                    "name": "Gpr51",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80T41-1",
            "evidence": [
                {
                    "id": "0080291",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080291"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75899-1",
            "uniprot_ac": "O75899",
            "uniprot_id": "GABR2_HUMAN",
            "refseq_ac": "NP_005449",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Gamma-aminobutyric acid type B receptor subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "G protein-coupled receptor 51",
                    "type": "synonym"
                },
                {
                    "name": "G-protein coupled receptor 51",
                    "type": "synonym"
                },
                {
                    "name": "GABA-B receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "GABA-B receptor, R2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "GABA-B-R2",
                    "type": "synonym"
                },
                {
                    "name": "GABA-BR2",
                    "type": "synonym"
                },
                {
                    "name": "GABABR2",
                    "type": "synonym"
                },
                {
                    "name": "Gb2",
                    "type": "synonym"
                },
                {
                    "name": "HG20",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid (GABA) B receptor, 2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid B receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid type B receptor subunit 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "gb2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GABBR2",
                    "type": "recommended"
                },
                {
                    "name": "DEE59",
                    "type": "synonym"
                },
                {
                    "name": "EIEE59",
                    "type": "synonym"
                },
                {
                    "name": "GABABR2",
                    "type": "synonym"
                },
                {
                    "name": "GABBR2",
                    "type": "synonym"
                },
                {
                    "name": "GPR51",
                    "type": "synonym"
                },
                {
                    "name": "GPRC3B",
                    "type": "synonym"
                },
                {
                    "name": "HG20",
                    "type": "synonym"
                },
                {
                    "name": "HRIHFB2099",
                    "type": "synonym"
                },
                {
                    "name": "NDPLHS",
                    "type": "synonym"
                }
            ],
            "record_id": "O75899-1",
            "evidence": [
                {
                    "id": "617904",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617904"
                },
                {
                    "id": "0080291",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080291"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88871-1",
            "uniprot_ac": "O88871",
            "uniprot_id": "GABR2_RAT",
            "refseq_ac": "NP_113990",
            "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 type B receptor subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "G protein-coupled receptor 51",
                    "type": "synonym"
                },
                {
                    "name": "G-protein coupled receptor 51",
                    "type": "synonym"
                },
                {
                    "name": "GABA-B R2 receptor",
                    "type": "synonym"
                },
                {
                    "name": "GABA-B receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "GABA-B-R2",
                    "type": "synonym"
                },
                {
                    "name": "GABA-BR2",
                    "type": "synonym"
                },
                {
                    "name": "GABABR2",
                    "type": "synonym"
                },
                {
                    "name": "Gb2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid (GABA) B receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid type B receptor subunit 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "gb2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gabbr2",
                    "type": "recommended"
                },
                {
                    "name": "Gabbr2",
                    "type": "synonym"
                },
                {
                    "name": "Gpr51",
                    "type": "synonym"
                }
            ],
            "record_id": "O88871-1",
            "evidence": [
                {
                    "id": "0080291",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080291"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4LHR4-1",
            "uniprot_ac": "A0A0B4LHR4",
            "uniprot_id": "A0A0B4LHR4_DROME",
            "refseq_ac": "NP_001287456",
            "glycoprotein": "no",
            "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 type B receptor subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "CG6706-PC",
                    "type": "synonym"
                },
                {
                    "name": "G-protein coupled receptor 51",
                    "type": "synonym"
                },
                {
                    "name": "GABA-B-R2-PC",
                    "type": "synonym"
                },
                {
                    "name": "GABA[[B]]- 2 receptor",
                    "type": "synonym"
                },
                {
                    "name": "GABA[[B]]receptor2",
                    "type": "synonym"
                },
                {
                    "name": "metabotropic GABA-B receptor subtype 2, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "metabotropic GABA-B receptor subtype 2",
                    "type": "synonym"
                },
                {
                    "name": "metabotropic GABA[[B]] receptor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GABA-B-R2",
                    "type": "recommended"
                },
                {
                    "name": ":GABA-B-R2",
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                },
                {
                    "name": "BcDNA:GH07312",
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                },
                {
                    "name": "CG6706",
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                },
                {
                    "name": "D-GABA-B-R2",
                    "type": "synonym"
                },
                {
                    "name": "D-GABA[[B]]R2",
                    "type": "synonym"
                },
                {
                    "name": "D-Gaba2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6706",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6706",
                    "type": "synonym"
                },
                {
                    "name": "GABA B R2",
                    "type": "synonym"
                },
                {
                    "name": "GABA-B-R2",
                    "type": "synonym"
                },
                {
                    "name": "GABA-BR2",
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                },
                {
                    "name": "GABA-[[B]]R2",
                    "type": "synonym"
                },
                {
                    "name": "GABA2",
                    "type": "synonym"
                },
                {
                    "name": "GABAB(R2)",
                    "type": "synonym"
                },
                {
                    "name": "GABAB-R2",
                    "type": "synonym"
                },
                {
                    "name": "GABABR-R2",
                    "type": "synonym"
                },
                {
                    "name": "GABABR2",
                    "type": "synonym"
                },
                {
                    "name": "GABA[[B]]-R2",
                    "type": "synonym"
                },
                {
                    "name": "GABA[[B]]R2",
                    "type": "synonym"
                },
                {
                    "name": "GB2",
                    "type": "synonym"
                },
                {
                    "name": "GBR",
                    "type": "synonym"
                },
                {
                    "name": "GH07312",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0170980.58",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0170980.59",
                    "type": "synonym"
                },
                {
                    "name": "dGB2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4LHR4-1",
            "evidence": [
                {
                    "id": "0080291",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080291"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080291"
}