{
    "disease_id": "DOID:0112214",
    "recommended_name": {
        "id": "DOID:0112214",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112214",
        "name": "developmental and epileptic encephalopathy 78",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA2 gene on chromosome 4p12."
    },
    "synonyms": [
        {
            "id": "DOID:0112214",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112214",
            "name": "DEE78",
            "description": ""
        },
        {
            "id": "DOID:0112214",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112214",
            "name": "early infantile epileptic encephalopathy 78",
            "description": ""
        },
        {
            "id": "MONDO:0032812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032812",
            "name": "developmental and epileptic encephalopathy, 78",
            "description": ""
        },
        {
            "id": "MONDO:0032812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032812",
            "name": "DEE78",
            "description": ""
        },
        {
            "id": "MONDO:0032812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032812",
            "name": "EIEE78",
            "description": ""
        },
        {
            "id": "MONDO:0032812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032812",
            "name": "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78",
            "description": ""
        },
        {
            "id": "MONDO:0032812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032812",
            "name": "developmental and epileptic encephalopathy 78",
            "description": ""
        },
        {
            "id": "MONDO:0032812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032812",
            "name": "epileptic encephalopathy, early infantile, 78",
            "description": ""
        },
        {
            "id": "MIM:618557",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618557",
            "name": "Developmental and epileptic encephalopathy 78",
            "description": "Developmental and epileptic encephalopathy 78"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112214"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112214",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112214",
            "categories": []
        },
        {
            "id": "MONDO:0032812",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032812",
            "categories": []
        },
        {
            "id": "MIM:618557",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618557",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F635-1",
            "uniprot_ac": "E7F635",
            "uniprot_id": "E7F635_DANRE",
            "refseq_ac": "XP_009305482",
            "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 alpha-2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit alpha-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gabra2a",
                    "type": "recommended"
                },
                {
                    "name": "gabra2a",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F635-1",
            "evidence": [
                {
                    "id": "0112214",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112214"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26048-1",
            "uniprot_ac": "P26048",
            "uniprot_id": "GBRA2_MOUSE",
            "refseq_ac": "NP_032092",
            "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 alpha-2",
                    "type": "recommended"
                },
                {
                    "name": "GABA(A) receptor subunit alpha-2",
                    "type": "synonym"
                },
                {
                    "name": "GABAAR subunit alpha-2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid (GABA) A receptor, subunit alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit alpha-2 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit alpha-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gabra2",
                    "type": "recommended"
                },
                {
                    "name": "C630048P16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gabra-2",
                    "type": "synonym"
                },
                {
                    "name": "Gabra2",
                    "type": "synonym"
                }
            ],
            "record_id": "P26048-1",
            "evidence": [
                {
                    "id": "0112214",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112214"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47869-1",
            "uniprot_ac": "P47869",
            "uniprot_id": "GBRA2_HUMAN",
            "refseq_ac": "NP_000798",
            "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 alpha-2",
                    "type": "recommended"
                },
                {
                    "name": "GABA(A) receptor subunit alpha-2",
                    "type": "synonym"
                },
                {
                    "name": "GABAAR subunit alpha-2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid type A receptor alpha2 subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GABRA2",
                    "type": "recommended"
                },
                {
                    "name": "DEE78",
                    "type": "synonym"
                },
                {
                    "name": "EIEE78",
                    "type": "synonym"
                },
                {
                    "name": "GABRA2",
                    "type": "synonym"
                }
            ],
            "record_id": "P47869-1",
            "evidence": [
                {
                    "id": "618557",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618557"
                },
                {
                    "id": "0112214",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112214"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23576-1",
            "uniprot_ac": "P23576",
            "uniprot_id": "GBRA2_RAT",
            "refseq_ac": "",
            "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 alpha-2",
                    "type": "recommended"
                },
                {
                    "name": "GABA(A) receptor subunit alpha-2",
                    "type": "synonym"
                },
                {
                    "name": "GABAAR subunit alpha-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gabra2",
                    "type": "recommended"
                },
                {
                    "name": "Gabra-2",
                    "type": "synonym"
                }
            ],
            "record_id": "P23576-1",
            "evidence": [
                {
                    "id": "0112214",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112214"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24352-1",
            "uniprot_ac": "Q24352",
            "uniprot_id": "GBRAL_DROME",
            "refseq_ac": "NP_524131",
            "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 alpha-like",
                    "type": "recommended"
                },
                {
                    "name": "CG7446-PA",
                    "type": "synonym"
                },
                {
                    "name": "GABA and glycine-like receptor of drosophila",
                    "type": "synonym"
                },
                {
                    "name": "GABA(A) receptor alpha-like and glycine receptor-like subunit of Drosophila",
                    "type": "synonym"
                },
                {
                    "name": "GABA-and-glycine-receptor-like-subunit-of-Drosophila",
                    "type": "synonym"
                },
                {
                    "name": "GABA/Glycine-gated chloride channel-like",
                    "type": "synonym"
                },
                {
                    "name": "GRD",
                    "type": "synonym"
                },
                {
                    "name": "Grd-PA",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grd",
                    "type": "recommended"
                },
                {
                    "name": "CG7446",
                    "type": "synonym"
                },
                {
                    "name": "CT22917",
                    "type": "synonym"
                },
                {
                    "name": "DmGABA(GRD)",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7446",
                    "type": "synonym"
                },
                {
                    "name": "GRD",
                    "type": "synonym"
                },
                {
                    "name": "Grd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24352-1",
            "evidence": [
                {
                    "id": "0112214",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112214"
                }
            ]
        },
        {
            "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": "0112214",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112214"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112214"
}