{
    "disease_id": "DOID:0080428",
    "recommended_name": {
        "id": "DOID:0080428",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080428",
        "name": "developmental and epileptic encephalopathy 45",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13."
    },
    "synonyms": [
        {
            "id": "DOID:0080428",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080428",
            "name": "DEE45",
            "description": ""
        },
        {
            "id": "DOID:0080428",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080428",
            "name": "early infantile epileptic encephalopathy 45",
            "description": ""
        },
        {
            "id": "MONDO:0014942",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014942",
            "name": "developmental and epileptic encephalopathy, 45",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB1 gene."
        },
        {
            "id": "MONDO:0014942",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014942",
            "name": "DEE45",
            "description": ""
        },
        {
            "id": "MONDO:0014942",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014942",
            "name": "EIEE45",
            "description": ""
        },
        {
            "id": "MONDO:0014942",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014942",
            "name": "GABRB1 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014942",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014942",
            "name": "developmental and epileptic encephalopathy 45",
            "description": ""
        },
        {
            "id": "MONDO:0014942",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014942",
            "name": "early infantile epileptic encephalopathy caused by mutation in GABRB1",
            "description": ""
        },
        {
            "id": "MONDO:0014942",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014942",
            "name": "epileptic encephalopathy, early infantile, 45",
            "description": ""
        },
        {
            "id": "MONDO:0014942",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014942",
            "name": "epileptic encephalopathy, early infantile, 45; EIEE45",
            "description": ""
        },
        {
            "id": "MONDO:0014942",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014942",
            "name": "epileptic encephalopathy, early infantile, type 45",
            "description": ""
        },
        {
            "id": "MIM:617153",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617153",
            "name": "Developmental and epileptic encephalopathy 45",
            "description": "Developmental and epileptic encephalopathy 45"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080428"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080428",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080428",
            "categories": []
        },
        {
            "id": "MONDO:0014942",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014942",
            "categories": []
        },
        {
            "id": "MIM:617153",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617153",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QPW7-1",
            "uniprot_ac": "F1QPW7",
            "uniprot_id": "F1QPW7_DANRE",
            "refseq_ac": "XP_002664179",
            "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-1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit beta-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gabrb1",
                    "type": "recommended"
                },
                {
                    "name": "gabrb1",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QPW7-1",
            "evidence": [
                {
                    "id": "0080428",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080428"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50571-1",
            "uniprot_ac": "P50571",
            "uniprot_id": "GBRB1_MOUSE",
            "refseq_ac": "NP_032095",
            "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-1",
                    "type": "recommended"
                },
                {
                    "name": "GABA(A) receptor subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "GABAAR subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid (GABA) A receptor, subunit beta 1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit beta-1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit beta-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gabrb1",
                    "type": "recommended"
                },
                {
                    "name": "B230208N19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gabrb-1",
                    "type": "synonym"
                },
                {
                    "name": "Gabrb1",
                    "type": "synonym"
                }
            ],
            "record_id": "P50571-1",
            "evidence": [
                {
                    "id": "0080428",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080428"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18505-1",
            "uniprot_ac": "P18505",
            "uniprot_id": "GBRB1_HUMAN",
            "refseq_ac": "NP_000803",
            "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-1",
                    "type": "recommended"
                },
                {
                    "name": "GABA(A) receptor subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "GABAAR subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid (GABA) A receptor, beta 1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit beta-1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid type A receptor beta1 subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GABRB1",
                    "type": "recommended"
                },
                {
                    "name": "DEE45",
                    "type": "synonym"
                },
                {
                    "name": "EIEE45",
                    "type": "synonym"
                },
                {
                    "name": "GABRB1",
                    "type": "synonym"
                }
            ],
            "record_id": "P18505-1",
            "evidence": [
                {
                    "id": "617153",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617153"
                },
                {
                    "id": "0080428",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080428"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15431-1",
            "uniprot_ac": "P15431",
            "uniprot_id": "GBRB1_RAT",
            "refseq_ac": "NP_037088",
            "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-1",
                    "type": "recommended"
                },
                {
                    "name": "GABA(A) receptor subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "GABAAR subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-aminobutyric acid receptor beta 1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid (GABA) A receptor, beta 1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid (GABA-A) receptor, subunit beta 1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit beta-1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid type A receptor beta 1 subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gabrb1",
                    "type": "recommended"
                },
                {
                    "name": "GARB1",
                    "type": "synonym"
                },
                {
                    "name": "Gabrb-1",
                    "type": "synonym"
                },
                {
                    "name": "Gabrb1",
                    "type": "synonym"
                }
            ],
            "record_id": "P15431-1",
            "evidence": [
                {
                    "id": "0080428",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080428"
                }
            ]
        },
        {
            "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": "0080428",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080428"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q16850-1",
            "uniprot_ac": "Q16850",
            "uniprot_id": "CP51A_HUMAN",
            "refseq_ac": "NP_000777",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lanosterol 14-alpha demethylase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.154",
                    "type": "synonym"
                },
                {
                    "name": "CYP51A1",
                    "type": "synonym"
                },
                {
                    "name": "CYPLI",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450 51A1",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450-14DM",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P45014DM",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450LI",
                    "type": "synonym"
                },
                {
                    "name": "LDM",
                    "type": "synonym"
                },
                {
                    "name": "Sterol 14-alpha demethylase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 51A1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, 51 (lanosterol 14-alpha-demethylase)",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, family 51, subfamily A, polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450-14DM",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P45014DM",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450LI",
                    "type": "synonym"
                },
                {
                    "name": "lanosterol 14-alpha demethylase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "lanosterol 14-alpha demethylase",
                    "type": "synonym"
                },
                {
                    "name": "sterol 14-alpha demethylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYP51A1",
                    "type": "recommended"
                },
                {
                    "name": "CP51",
                    "type": "synonym"
                },
                {
                    "name": "CYP51A1",
                    "type": "synonym"
                },
                {
                    "name": "CYP51",
                    "type": "synonym"
                },
                {
                    "name": "CYPL1",
                    "type": "synonym"
                },
                {
                    "name": "LDM",
                    "type": "synonym"
                },
                {
                    "name": "P450-14DM",
                    "type": "synonym"
                },
                {
                    "name": "P450L1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q16850-1",
            "evidence": [
                {
                    "id": "0080428",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080428"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080428"
}