{
    "disease_id": "DOID:0080450",
    "recommended_name": {
        "id": "DOID:0080450",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080450",
        "name": "developmental and epileptic encephalopathy 17",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13."
    },
    "synonyms": [
        {
            "id": "DOID:0080450",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080450",
            "name": "DEE17",
            "description": ""
        },
        {
            "id": "DOID:0080450",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080450",
            "name": "early infantile epileptic encephalopathy 17",
            "description": ""
        },
        {
            "id": "MONDO:0014199",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014199",
            "name": "developmental and epileptic encephalopathy, 17",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GNAO1 gene."
        },
        {
            "id": "MONDO:0014199",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014199",
            "name": "DEE17",
            "description": ""
        },
        {
            "id": "MONDO:0014199",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014199",
            "name": "EIEE17",
            "description": ""
        },
        {
            "id": "MONDO:0014199",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014199",
            "name": "GNAO1 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014199",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014199",
            "name": "developmental and epileptic encephalopathy 17",
            "description": ""
        },
        {
            "id": "MONDO:0014199",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014199",
            "name": "early infantile epileptic encephalopathy caused by mutation in GNAO1",
            "description": ""
        },
        {
            "id": "MONDO:0014199",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014199",
            "name": "early infantile epileptic encephalopathy-17",
            "description": ""
        },
        {
            "id": "MONDO:0014199",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014199",
            "name": "epileptic encephalopathy, early infantile, 17",
            "description": ""
        },
        {
            "id": "MONDO:0014199",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014199",
            "name": "epileptic encephalopathy, early infantile, type 17",
            "description": ""
        },
        {
            "id": "MONDO:0014199",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014199",
            "name": "GNAO1 encephalopathy",
            "description": ""
        },
        {
            "id": "MIM:615473",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615473",
            "name": "Developmental and epileptic encephalopathy 17",
            "description": "Developmental and epileptic encephalopathy 17"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080450"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080450",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080450",
            "categories": []
        },
        {
            "id": "MONDO:0014199",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014199",
            "categories": []
        },
        {
            "id": "MIM:615473",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615473",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F8W442-1",
            "uniprot_ac": "F8W442",
            "uniprot_id": "F8W442_DANRE",
            "refseq_ac": "XP_005159126",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein G(o) subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O, a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gnao1a",
                    "type": "recommended"
                },
                {
                    "name": "gnao1a",
                    "type": "synonym"
                },
                {
                    "name": "gnao1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fq26h05",
                    "type": "synonym"
                },
                {
                    "name": "zgc:73315",
                    "type": "synonym"
                }
            ],
            "record_id": "F8W442-1",
            "evidence": [
                {
                    "id": "0080450",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080450"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18872-1",
            "uniprot_ac": "P18872",
            "uniprot_id": "GNAO_MOUSE",
            "refseq_ac": "NP_001106855",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein G(o) subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein alpha-o subunit",
                    "type": "synonym"
                },
                {
                    "name": "Go alpha",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein G(o) subunit alpha isoform B",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein G(o) subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "heterotrimeric guanine nucleotide-binding protein 1g",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gnao1",
                    "type": "recommended"
                },
                {
                    "name": "Galphao",
                    "type": "synonym"
                },
                {
                    "name": "Gna0",
                    "type": "synonym"
                },
                {
                    "name": "Gnao1",
                    "type": "synonym"
                },
                {
                    "name": "Gnao",
                    "type": "synonym"
                },
                {
                    "name": "Hg1g",
                    "type": "synonym"
                },
                {
                    "name": "alphaO",
                    "type": "synonym"
                }
            ],
            "record_id": "P18872-1",
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                    "id": "0080450",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080450"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09471-1",
            "uniprot_ac": "P09471",
            "uniprot_id": "GNAO_HUMAN",
            "refseq_ac": "NP_066268",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein G(o) subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "GO2-q chimeric G-protein",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein G(o) subunit alpha isoform a",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein G(o) subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding regulatory protein 2",
                    "type": "synonym"
                },
                {
                    "name": "heterotrimeric guanine nucleotide-binding protein 1G",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GNAO1",
                    "type": "recommended"
                },
                {
                    "name": "DEE17",
                    "type": "synonym"
                },
                {
                    "name": "EIEE17",
                    "type": "synonym"
                },
                {
                    "name": "G-ALPHA-o",
                    "type": "synonym"
                },
                {
                    "name": "GNAO1",
                    "type": "synonym"
                },
                {
                    "name": "GNAO",
                    "type": "synonym"
                },
                {
                    "name": "HG1G",
                    "type": "synonym"
                },
                {
                    "name": "NEDIM",
                    "type": "synonym"
                }
            ],
            "record_id": "P09471-1",
            "evidence": [
                {
                    "id": "615473",
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                    "url": "https://www.omim.org/entry/615473"
                },
                {
                    "id": "0080450",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080450"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08539-1",
            "uniprot_ac": "P08539",
            "uniprot_id": "GPA1_YEAST",
            "refseq_ac": "NP_011868",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein alpha-1 subunit",
                    "type": "recommended"
                },
                {
                    "name": "GP1-alpha",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GPA1",
                    "type": "recommended"
                },
                {
                    "name": "CDC70",
                    "type": "synonym"
                },
                {
                    "name": "DAC1",
                    "type": "synonym"
                },
                {
                    "name": "GPA1",
                    "type": "synonym"
                },
                {
                    "name": "SCG1",
                    "type": "synonym"
                }
            ],
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                    "id": "0080450",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080450"
                }
            ]
        },
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            "uniprot_canonical_ac": "P10823-1",
            "uniprot_ac": "P10823",
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            "glycoprotein": "yes",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein alpha-2 subunit",
                    "type": "recommended"
                },
                {
                    "name": "GP2-alpha",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein subunit alpha",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "GPA2",
                    "type": "recommended"
                },
                {
                    "name": "GPA2",
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                },
                {
                    "name": "SSP101",
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            ],
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                {
                    "id": "0080450",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080450"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P59215-1",
            "uniprot_ac": "P59215",
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            "refseq_ac": "NP_059023",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein G(o) subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
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                },
                {
                    "name": "GTP-binding protein alpha o",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein, alpha O polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein G(o) subunit alpha isoform B",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein G(o) subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "heterotrimeric guanine nucleotide-binding protein 1g",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gnao1",
                    "type": "recommended"
                },
                {
                    "name": "Gna0",
                    "type": "synonym"
                },
                {
                    "name": "Gnao1",
                    "type": "synonym"
                },
                {
                    "name": "Gnao",
                    "type": "synonym"
                },
                {
                    "name": "Hg1g",
                    "type": "synonym"
                },
                {
                    "name": "RATBPGTPC",
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            ],
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                {
                    "id": "0080450",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080450"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16378-1",
            "uniprot_ac": "P16378",
            "uniprot_id": "GNAO_DROME",
            "refseq_ac": "NP_523684",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "G protein alpha o subunit",
                    "type": "recommended"
                },
                {
                    "name": "CG2204-PA",
                    "type": "synonym"
                },
                {
                    "name": "G protein alpha o subunit",
                    "type": "synonym"
                },
                {
                    "name": "G protein alpha subunit o, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "G protein o alpha 47A",
                    "type": "synonym"
                },
                {
                    "name": "G protein oalpha 47A",
                    "type": "synonym"
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                {
                    "name": "Galphao-PA",
                    "type": "synonym"
                },
                {
                    "name": "Guanine nucleotide-binding protein G(o) subunit alpha 47A",
                    "type": "synonym"
                },
                {
                    "name": "brokenhearted",
                    "type": "synonym"
                },
                {
                    "name": "brokenheart",
                    "type": "synonym"
                },
                {
                    "name": "drogpad",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Galphao",
                    "type": "recommended"
                },
                {
                    "name": "Bkh",
                    "type": "synonym"
                },
                {
                    "name": "CG2204",
                    "type": "synonym"
                },
                {
                    "name": "DG[[o]]",
                    "type": "synonym"
                },
                {
                    "name": "DGalpha0",
                    "type": "synonym"
                },
                {
                    "name": "DGalpha[[o]]",
                    "type": "synonym"
                },
                {
                    "name": "DROGPAD",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2204",
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                },
                {
                    "name": "G(o)alpha47A",
                    "type": "synonym"
                },
                {
                    "name": "G-alpha-47A",
                    "type": "synonym"
                },
                {
                    "name": "G-oa47A",
                    "type": "synonym"
                },
                {
                    "name": "G-oalpha47A",
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                {
                    "name": "G-oalpha47a",
                    "type": "synonym"
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                {
                    "name": "G-oalpha",
                    "type": "synonym"
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                {
                    "name": "G[[o]]alpha",
                    "type": "synonym"
                },
                {
                    "name": "G[[o]]",
                    "type": "synonym"
                },
                {
                    "name": "G[[oalpha]]",
                    "type": "synonym"
                },
                {
                    "name": "Galpha47A",
                    "type": "synonym"
                },
                {
                    "name": "Galpha[[047A]]",
                    "type": "synonym"
                },
                {
                    "name": "Galpha[[0]]",
                    "type": "synonym"
                },
                {
                    "name": "Galpha[[o]]47A",
                    "type": "synonym"
                },
                {
                    "name": "Galpha[[o]]",
                    "type": "synonym"
                },
                {
                    "name": "Galphai/o",
                    "type": "synonym"
                },
                {
                    "name": "Galphao47A",
                    "type": "synonym"
                },
                {
                    "name": "Galphao",
                    "type": "synonym"
                },
                {
                    "name": "Go-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Goalpha-47A",
                    "type": "synonym"
                },
                {
                    "name": "Goalpha47a",
                    "type": "synonym"
                },
                {
                    "name": "Goalpha",
                    "type": "synonym"
                },
                {
                    "name": "Goa",
                    "type": "synonym"
                },
                {
                    "name": "Go",
                    "type": "synonym"
                },
                {
                    "name": "alpha(o)",
                    "type": "synonym"
                },
                {
                    "name": "bkh",
                    "type": "synonym"
                },
                {
                    "name": "dGalphao",
                    "type": "synonym"
                },
                {
                    "name": "dgoalpha",
                    "type": "synonym"
                },
                {
                    "name": "dgo",
                    "type": "synonym"
                },
                {
                    "name": "drogpad",
                    "type": "synonym"
                },
                {
                    "name": "goalpha",
                    "type": "synonym"
                },
                {
                    "name": "like GNAO",
                    "type": "synonym"
                }
            ],
            "record_id": "P16378-1",
            "evidence": [
                {
                    "id": "0080450",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080450"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080450"
}