{
    "disease_id": "DOID:0080431",
    "recommended_name": {
        "id": "DOID:0080431",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080431",
        "name": "developmental and epileptic encephalopathy 19",
        "description": "A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life and mild to moderate impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA1 gene on chromosome 5q34."
    },
    "synonyms": [
        {
            "id": "DOID:0080431",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080431",
            "name": "DEE19",
            "description": ""
        },
        {
            "id": "DOID:0080431",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080431",
            "name": "early infantile epileptic encephalopathy 19",
            "description": ""
        },
        {
            "id": "MONDO:0014328",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014328",
            "name": "developmental and epileptic encephalopathy, 19",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRA1 gene."
        },
        {
            "id": "MONDO:0014328",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014328",
            "name": "DEE19",
            "description": ""
        },
        {
            "id": "MONDO:0014328",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014328",
            "name": "EIEE19",
            "description": ""
        },
        {
            "id": "MONDO:0014328",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014328",
            "name": "Early Infantile epileptic encephalopathy 19",
            "description": ""
        },
        {
            "id": "MONDO:0014328",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014328",
            "name": "GABRA1 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014328",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014328",
            "name": "developmental and epileptic encephalopathy 19",
            "description": ""
        },
        {
            "id": "MONDO:0014328",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014328",
            "name": "early infantile epileptic encephalopathy caused by mutation in GABRA1",
            "description": ""
        },
        {
            "id": "MONDO:0014328",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014328",
            "name": "epileptic encephalopathy, early infantile, 19",
            "description": ""
        },
        {
            "id": "MONDO:0014328",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014328",
            "name": "epileptic encephalopathy, early infantile, type 19",
            "description": ""
        },
        {
            "id": "MIM:615744",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615744",
            "name": "Developmental and epileptic encephalopathy 19",
            "description": "Developmental and epileptic encephalopathy 19"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080431"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080431",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080431",
            "categories": []
        },
        {
            "id": "MONDO:0014328",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014328",
            "categories": []
        },
        {
            "id": "MIM:615744",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615744",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3ALU6-1",
            "uniprot_ac": "A0A8M3ALU6",
            "uniprot_id": "A0A8M3ALU6_DANRE",
            "refseq_ac": "XP_009293960",
            "glycoprotein": "yes",
            "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-1",
                    "type": "recommended"
                },
                {
                    "name": "GABA(A) receptor subunit alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit alpha-1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gabra1",
                    "type": "recommended"
                },
                {
                    "name": "gabra1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153566",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3ALU6-1",
            "evidence": [
                {
                    "id": "0080431",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080431"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62812-1",
            "uniprot_ac": "P62812",
            "uniprot_id": "GBRA1_MOUSE",
            "refseq_ac": "NP_034380",
            "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-1",
                    "type": "recommended"
                },
                {
                    "name": "GABA(A) receptor subunit alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "GABAA alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "GABAAR alpha1",
                    "type": "synonym"
                },
                {
                    "name": "GABAAR subunit alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid (GABA) A receptor, subunit alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit alpha-1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit alpha-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gabra1",
                    "type": "recommended"
                },
                {
                    "name": "GABAA-alpha1",
                    "type": "synonym"
                },
                {
                    "name": "GABAAR-alpha1",
                    "type": "synonym"
                },
                {
                    "name": "Gabra-1",
                    "type": "synonym"
                },
                {
                    "name": "Gabra1",
                    "type": "synonym"
                }
            ],
            "record_id": "P62812-1",
            "evidence": [
                {
                    "id": "0080431",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080431"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14867-1",
            "uniprot_ac": "P14867",
            "uniprot_id": "GBRA1_HUMAN",
            "refseq_ac": "NP_000797",
            "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-1",
                    "type": "recommended"
                },
                {
                    "name": "GABA(A) receptor subunit alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "GABA(A) receptor, alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "GABAAR subunit alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid (GABA) A receptor, alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit alpha-1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid type A receptor alpha1 subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GABRA1",
                    "type": "recommended"
                },
                {
                    "name": "DEE19",
                    "type": "synonym"
                },
                {
                    "name": "ECA4",
                    "type": "synonym"
                },
                {
                    "name": "EIEE19",
                    "type": "synonym"
                },
                {
                    "name": "EJM5",
                    "type": "synonym"
                },
                {
                    "name": "EJM",
                    "type": "synonym"
                },
                {
                    "name": "GABRA1",
                    "type": "synonym"
                }
            ],
            "record_id": "P14867-1",
            "evidence": [
                {
                    "id": "615744",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615744"
                },
                {
                    "id": "0080431",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080431"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62813-1",
            "uniprot_ac": "P62813",
            "uniprot_id": "GBRA1_RAT",
            "refseq_ac": "NP_899155",
            "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-1",
                    "type": "recommended"
                },
                {
                    "name": "GABA(A) receptor subunit alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "GABAAR subunit alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid (GABA) A receptor, alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid (GABA-A) receptor, subunit alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid A receptor, alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit alpha-1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid type A receptor alpha1 subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gabra1",
                    "type": "recommended"
                },
                {
                    "name": "Gabra-1",
                    "type": "synonym"
                },
                {
                    "name": "Gabra1",
                    "type": "synonym"
                }
            ],
            "record_id": "P62813-1",
            "evidence": [
                {
                    "id": "0080431",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080431"
                }
            ]
        },
        {
            "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": "0080431",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080431"
                }
            ]
        },
        {
            "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": "0080431",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080431"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080431"
}