{
    "disease_id": "DOID:0080447",
    "recommended_name": {
        "id": "DOID:0080447",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080447",
        "name": "developmental and epileptic encephalopathy 43",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11."
    },
    "synonyms": [
        {
            "id": "DOID:0080447",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080447",
            "name": "DEE43",
            "description": ""
        },
        {
            "id": "DOID:0080447",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080447",
            "name": "early infantile epileptic encephalopathy 43",
            "description": ""
        },
        {
            "id": "MONDO:0014921",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014921",
            "name": "developmental and epileptic encephalopathy, 43",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB3 gene."
        },
        {
            "id": "MONDO:0014921",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014921",
            "name": "DEE43",
            "description": ""
        },
        {
            "id": "MONDO:0014921",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014921",
            "name": "EIEE43",
            "description": ""
        },
        {
            "id": "MONDO:0014921",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014921",
            "name": "GABRB3 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014921",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014921",
            "name": "developmental and epileptic encephalopathy 43",
            "description": ""
        },
        {
            "id": "MONDO:0014921",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014921",
            "name": "early infantile epileptic encephalopathy caused by mutation in GABRB3",
            "description": ""
        },
        {
            "id": "MONDO:0014921",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014921",
            "name": "epileptic encephalopathy, early infantile, 43",
            "description": ""
        },
        {
            "id": "MONDO:0014921",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014921",
            "name": "epileptic encephalopathy, early infantile, 43; EIEE43",
            "description": ""
        },
        {
            "id": "MONDO:0014921",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014921",
            "name": "epileptic encephalopathy, early infantile, type 43",
            "description": ""
        },
        {
            "id": "MIM:617113",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617113",
            "name": "Developmental and epileptic encephalopathy 43",
            "description": "Developmental and epileptic encephalopathy 43"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080447"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080447",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080447",
            "categories": []
        },
        {
            "id": "MONDO:0014921",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014921",
            "categories": []
        },
        {
            "id": "MIM:617113",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617113",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BDH7-1",
            "uniprot_ac": "A0A8M2BDH7",
            "uniprot_id": "A0A8M2BDH7_DANRE",
            "refseq_ac": "XP_021327485",
            "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 beta-3 isoform X2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit beta-3 isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gabrb3",
                    "type": "recommended"
                },
                {
                    "name": "gabrb3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BDH7-1",
            "evidence": [
                {
                    "id": "0080447",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080447"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63080-1",
            "uniprot_ac": "P63080",
            "uniprot_id": "GBRB3_MOUSE",
            "refseq_ac": "NP_032097",
            "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 beta-3",
                    "type": "recommended"
                },
                {
                    "name": "GABA(A) receptor subunit beta-3",
                    "type": "synonym"
                },
                {
                    "name": "GABAAR subunit beta-3",
                    "type": "synonym"
                },
                {
                    "name": "cleft palate 1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid (GABA) A receptor, subunit beta 3",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit beta-3 isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit beta-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gabrb3",
                    "type": "recommended"
                },
                {
                    "name": "A230092K12Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cp1",
                    "type": "synonym"
                },
                {
                    "name": "Gabrb-3",
                    "type": "synonym"
                },
                {
                    "name": "Gabrb3",
                    "type": "synonym"
                },
                {
                    "name": "beta3",
                    "type": "synonym"
                }
            ],
            "record_id": "P63080-1",
            "evidence": [
                {
                    "id": "0080447",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080447"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28472-1",
            "uniprot_ac": "P28472",
            "uniprot_id": "GBRB3_HUMAN",
            "refseq_ac": "NP_000805",
            "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 beta-3",
                    "type": "recommended"
                },
                {
                    "name": "GABA(A) receptor subunit beta-3",
                    "type": "synonym"
                },
                {
                    "name": "GABA-alpha receptor beta-2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "GABAA receptor beta-3 subunit",
                    "type": "synonym"
                },
                {
                    "name": "GABAAR subunit beta-3",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid (GABA) A receptor, beta 3",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid A receptor beta 3",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid type A receptor beta3 subunit",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid type A receptor subunit beta 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GABRB3",
                    "type": "recommended"
                },
                {
                    "name": "DEE43",
                    "type": "synonym"
                },
                {
                    "name": "ECA5",
                    "type": "synonym"
                },
                {
                    "name": "EIEE43",
                    "type": "synonym"
                },
                {
                    "name": "GABRB3",
                    "type": "synonym"
                }
            ],
            "record_id": "P28472-1",
            "evidence": [
                {
                    "id": "617113",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617113"
                },
                {
                    "id": "0080447",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080447"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63079-1",
            "uniprot_ac": "P63079",
            "uniprot_id": "GBRB3_RAT",
            "refseq_ac": "NP_058761",
            "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 beta-3",
                    "type": "recommended"
                },
                {
                    "name": "GABA(A) receptor subunit beta-3",
                    "type": "synonym"
                },
                {
                    "name": "GABA-alpha receptor beta-3 subunit",
                    "type": "synonym"
                },
                {
                    "name": "GABAAR subunit beta-3",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-aminobutyric acid receptor beta 3",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid (GABA) A receptor, beta 3",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid (GABA-A) receptor, subunit beta 3",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit beta-3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit beta-3",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid type A receptor beta 3 subunit",
                    "type": "synonym"
                },
                {
                    "name": "testis gamma-aminobutyric acid receptor subunit beta 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gabrb3",
                    "type": "recommended"
                },
                {
                    "name": "Gabrb-3",
                    "type": "synonym"
                },
                {
                    "name": "Gabrb3",
                    "type": "synonym"
                }
            ],
            "record_id": "P63079-1",
            "evidence": [
                {
                    "id": "0080447",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080447"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08832-1",
            "uniprot_ac": "Q08832",
            "uniprot_id": "GBRB3_DROME",
            "refseq_ac": "NP_996469",
            "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 subunit beta-like",
                    "type": "recommended"
                },
                {
                    "name": "CG17336-PC",
                    "type": "synonym"
                },
                {
                    "name": "GABA receptor beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "GABA(A) receptor",
                    "type": "synonym"
                },
                {
                    "name": "Lcch3-PC",
                    "type": "synonym"
                },
                {
                    "name": "Ligand-gated chloride channel homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "ligand-gated chloride channel homologue 3",
                    "type": "synonym"
                },
                {
                    "name": "ligand-gated chloride channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lcch3",
                    "type": "recommended"
                },
                {
                    "name": "CG17336",
                    "type": "synonym"
                },
                {
                    "name": "CT38330",
                    "type": "synonym"
                },
                {
                    "name": "DmGABAbeta",
                    "type": "synonym"
                },
                {
                    "name": "DmGA_b",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17336",
                    "type": "synonym"
                },
                {
                    "name": "LCCH3",
                    "type": "synonym"
                },
                {
                    "name": "Lcch3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08832-1",
            "evidence": [
                {
                    "id": "0080447",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080447"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22680-1",
            "uniprot_ac": "P22680",
            "uniprot_id": "CP7A1_HUMAN",
            "refseq_ac": "NP_000771",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 7A1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.23",
                    "type": "synonym"
                },
                {
                    "name": "1.14.14.26",
                    "type": "synonym"
                },
                {
                    "name": "24-hydroxycholesterol 7-alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "CYPVII",
                    "type": "synonym"
                },
                {
                    "name": "Cholesterol 7-alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "Cholesterol 7-alpha-monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "cholesterol 7-alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "cholesterol 7-alpha-monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "cholesterol 7alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 7A1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, family 7, subfamily A, polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, subfamily VIIA polypeptide 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYP7A1",
                    "type": "recommended"
                },
                {
                    "name": "CP7A",
                    "type": "synonym"
                },
                {
                    "name": "CYP7A1",
                    "type": "synonym"
                },
                {
                    "name": "CYP7",
                    "type": "synonym"
                },
                {
                    "name": "CYPVII",
                    "type": "synonym"
                }
            ],
            "record_id": "P22680-1",
            "evidence": [
                {
                    "id": "0080447",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080447"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080447"
}