{
    "disease_id": "DOID:0112215",
    "recommended_name": {
        "id": "DOID:0112215",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112215",
        "name": "developmental and epileptic encephalopathy 79",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in heterozygous mutation in the GABRA5 gene on chromosome 15q12."
    },
    "synonyms": [
        {
            "id": "DOID:0112215",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112215",
            "name": "DEE79",
            "description": ""
        },
        {
            "id": "DOID:0112215",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112215",
            "name": "early infantile epileptic encephalopathy 79",
            "description": ""
        },
        {
            "id": "MONDO:0032813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032813",
            "name": "developmental and epileptic encephalopathy, 79",
            "description": ""
        },
        {
            "id": "MONDO:0032813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032813",
            "name": "DEE79",
            "description": ""
        },
        {
            "id": "MONDO:0032813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032813",
            "name": "EIEE79",
            "description": ""
        },
        {
            "id": "MONDO:0032813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032813",
            "name": "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79",
            "description": ""
        },
        {
            "id": "MONDO:0032813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032813",
            "name": "developmental and epileptic encephalopathy 79",
            "description": ""
        },
        {
            "id": "MONDO:0032813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032813",
            "name": "epileptic encephalopathy, early infantile, 79",
            "description": ""
        },
        {
            "id": "MIM:618559",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618559",
            "name": "Developmental and epileptic encephalopathy 79",
            "description": "Developmental and epileptic encephalopathy 79"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112215"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112215",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112215",
            "categories": []
        },
        {
            "id": "MONDO:0032813",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032813",
            "categories": []
        },
        {
            "id": "MIM:618559",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618559",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E9QE70-1",
            "uniprot_ac": "E9QE70",
            "uniprot_id": "E9QE70_DANRE",
            "refseq_ac": "XP_005166139",
            "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-5",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit alpha-5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gabra5",
                    "type": "recommended"
                },
                {
                    "name": "gabra5",
                    "type": "synonym"
                }
            ],
            "record_id": "E9QE70-1",
            "evidence": [
                {
                    "id": "0112215",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112215"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BHJ7-1",
            "uniprot_ac": "Q8BHJ7",
            "uniprot_id": "GBRA5_MOUSE",
            "refseq_ac": "NP_795916",
            "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-5",
                    "type": "recommended"
                },
                {
                    "name": "GABA(A) receptor subunit alpha-5",
                    "type": "synonym"
                },
                {
                    "name": "GABAAR subunit alpha-5",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid (GABA) A receptor, subunit alpha 5",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit alpha-5 precursor",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit alpha-5",
                    "type": "synonym"
                },
                {
                    "name": "ligand-gated ion channel subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gabra5",
                    "type": "recommended"
                },
                {
                    "name": "A230018I05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gabra5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BHJ7-1",
            "evidence": [
                {
                    "id": "0112215",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112215"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31644-1",
            "uniprot_ac": "P31644",
            "uniprot_id": "GBRA5_HUMAN",
            "refseq_ac": "NP_000801",
            "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-5",
                    "type": "recommended"
                },
                {
                    "name": "GABA(A) receptor subunit alpha-5",
                    "type": "synonym"
                },
                {
                    "name": "GABAAR subunit alpha-5",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid (GABA) A receptor, alpha 5",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit alpha-5 precursor",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid type A receptor alpha5 subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GABRA5",
                    "type": "recommended"
                },
                {
                    "name": "DEE79",
                    "type": "synonym"
                },
                {
                    "name": "EIEE79",
                    "type": "synonym"
                },
                {
                    "name": "GABRA5",
                    "type": "synonym"
                }
            ],
            "record_id": "P31644-1",
            "evidence": [
                {
                    "id": "618559",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618559"
                },
                {
                    "id": "0112215",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112215"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19969-1",
            "uniprot_ac": "P19969",
            "uniprot_id": "GBRA5_RAT",
            "refseq_ac": "NP_058991",
            "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-5",
                    "type": "recommended"
                },
                {
                    "name": "GABA(A) receptor subunit alpha-5",
                    "type": "synonym"
                },
                {
                    "name": "GABA-A receptor alpha-5 subunit",
                    "type": "synonym"
                },
                {
                    "name": "GABAAR subunit alpha-5",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid (GABA) A receptor, alpha 5",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid (GABA-A) receptor, subunit alpha 5",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid A receptor, alpha 5",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit alpha-5 precursor",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit alpha-5",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid type A receptor alpha 5 subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gabra5",
                    "type": "recommended"
                },
                {
                    "name": "Gabra-5",
                    "type": "synonym"
                },
                {
                    "name": "Gabra5",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0112215",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112215"
                }
            ]
        },
        {
            "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",
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                {
                    "id": "0112215",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112215"
                }
            ]
        },
        {
            "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"
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                {
                    "name": "Dmel\\CG8916",
                    "type": "synonym"
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                {
                    "name": "Dmel_CG8916",
                    "type": "synonym"
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                {
                    "name": "Lcch-14A",
                    "type": "synonym"
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            ],
            "record_id": "Q9VXL9-1",
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                {
                    "id": "0112215",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112215"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112215"
}