{
    "disease_id": "DOID:0112210",
    "recommended_name": {
        "id": "DOID:0112210",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112210",
        "name": "developmental and epileptic encephalopathy 74",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34."
    },
    "synonyms": [
        {
            "id": "DOID:0112210",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112210",
            "name": "DEE74",
            "description": ""
        },
        {
            "id": "DOID:0112210",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112210",
            "name": "early infantile epileptic encephalopathy 74",
            "description": ""
        },
        {
            "id": "MONDO:0032725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032725",
            "name": "developmental and epileptic encephalopathy, 74",
            "description": ""
        },
        {
            "id": "MONDO:0032725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032725",
            "name": "DEE74",
            "description": ""
        },
        {
            "id": "MONDO:0032725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032725",
            "name": "EIEE74",
            "description": ""
        },
        {
            "id": "MONDO:0032725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032725",
            "name": "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74",
            "description": ""
        },
        {
            "id": "MONDO:0032725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032725",
            "name": "developmental and epileptic encephalopathy 74",
            "description": ""
        },
        {
            "id": "MONDO:0032725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032725",
            "name": "epileptic encephalopathy, early infantile, 74",
            "description": ""
        },
        {
            "id": "MIM:618396",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618396",
            "name": "Developmental and epileptic encephalopathy 74",
            "description": "Developmental and epileptic encephalopathy 74"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112210"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112210",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112210",
            "categories": []
        },
        {
            "id": "MONDO:0032725",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032725",
            "categories": []
        },
        {
            "id": "MIM:618396",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618396",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58I8X7-1",
            "uniprot_ac": "A0AC58I8X7",
            "uniprot_id": "A0AC58I8X7_DANRE",
            "refseq_ac": "XP_073790685",
            "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 gamma-2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit gamma-2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gabrg2",
                    "type": "recommended"
                },
                {
                    "name": "gabrg2",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-145n14.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58I8X7-1",
            "evidence": [
                {
                    "id": "0112210",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112210"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22723-1",
            "uniprot_ac": "P22723",
            "uniprot_id": "GBRG2_MOUSE",
            "refseq_ac": "NP_032099",
            "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 gamma-2",
                    "type": "recommended"
                },
                {
                    "name": "GABA(A) receptor subunit gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "GABAAR subunit gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid (GABA) A receptor, subunit gamma 2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit gamma-2 isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gabrg2",
                    "type": "recommended"
                },
                {
                    "name": "GABAA-R",
                    "type": "synonym"
                },
                {
                    "name": "Gabrg-2",
                    "type": "synonym"
                },
                {
                    "name": "Gabrg2",
                    "type": "synonym"
                },
                {
                    "name": "gamma2",
                    "type": "synonym"
                }
            ],
            "record_id": "P22723-1",
            "evidence": [
                {
                    "id": "0112210",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112210"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18507-2",
            "uniprot_ac": "P18507",
            "uniprot_id": "GBRG2_HUMAN",
            "refseq_ac": "NP_000807",
            "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 gamma-2",
                    "type": "recommended"
                },
                {
                    "name": "GABA(A) receptor subunit gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "GABA(A) receptor, gamma 2",
                    "type": "synonym"
                },
                {
                    "name": "GABAAR subunit gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid (GABA) A receptor, gamma 2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit gamma-2 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid type A receptor gamma2 subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GABRG2",
                    "type": "recommended"
                },
                {
                    "name": "CAE2",
                    "type": "synonym"
                },
                {
                    "name": "DEE74",
                    "type": "synonym"
                },
                {
                    "name": "ECA2",
                    "type": "synonym"
                },
                {
                    "name": "EIEE74",
                    "type": "synonym"
                },
                {
                    "name": "FEB8",
                    "type": "synonym"
                },
                {
                    "name": "GABRG2",
                    "type": "synonym"
                },
                {
                    "name": "GEFSP3",
                    "type": "synonym"
                }
            ],
            "record_id": "P18507-2",
            "evidence": [
                {
                    "id": "618396",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618396"
                },
                {
                    "id": "0112210",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112210"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18508-1",
            "uniprot_ac": "P18508",
            "uniprot_id": "GBRG2_RAT",
            "refseq_ac": "NP_899156",
            "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 gamma-2",
                    "type": "recommended"
                },
                {
                    "name": "GABA(A) receptor subunit gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "GABAAR subunit gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid (GABA) A receptor, gamma 2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid (GABA-A) receptor, subunit gamma 2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid A receptor, gamma 2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit gamma-2 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid type A receptor gamma 2 subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gabrg2",
                    "type": "recommended"
                },
                {
                    "name": "Gabrg2",
                    "type": "synonym"
                }
            ],
            "record_id": "P18508-1",
            "evidence": [
                {
                    "id": "0112210",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112210"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXL9-1",
            "uniprot_ac": "Q9VXL9",
            "uniprot_id": "Q9VXL9_DROME",
            "refseq_ac": "NP_573090",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG8916-PB",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG8916",
                    "type": "recommended"
                },
                {
                    "name": "Lcch-14A",
                    "type": "recommended"
                },
                {
                    "name": "CG8916",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8916",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8916",
                    "type": "synonym"
                },
                {
                    "name": "Lcch-14A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VXL9-1",
            "evidence": [
                {
                    "id": "0112210",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112210"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112210"
}