{
    "disease_id": "DOID:0080215",
    "recommended_name": {
        "id": "DOID:0080215",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080215",
        "name": "developmental and epileptic encephalopathy 8",
        "description": "A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0080215",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080215",
            "name": "early infantile epileptic encephalopathy 8",
            "description": ""
        },
        {
            "id": "DOID:0080215",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080215",
            "name": "DEE8",
            "description": ""
        },
        {
            "id": "DOID:0080215",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080215",
            "name": "EIEE8",
            "description": ""
        },
        {
            "id": "MONDO:0010375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010375",
            "name": "developmental and epileptic encephalopathy, 8",
            "description": ""
        },
        {
            "id": "MONDO:0010375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010375",
            "name": "DEE8",
            "description": ""
        },
        {
            "id": "MONDO:0010375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010375",
            "name": "EIEE8",
            "description": ""
        },
        {
            "id": "MONDO:0010375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010375",
            "name": "developmental and epileptic encephalopathy 8",
            "description": ""
        },
        {
            "id": "MONDO:0010375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010375",
            "name": "epileptic encephalopathy, early infantile, 8",
            "description": ""
        },
        {
            "id": "MONDO:0010375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010375",
            "name": "epileptic encephalopathy, early infantile, type 8",
            "description": ""
        },
        {
            "id": "MONDO:0010375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010375",
            "name": "hyperekplexia-epilepsy syndrome",
            "description": ""
        },
        {
            "id": "MIM:300607",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300607",
            "name": "Developmental and epileptic encephalopathy 8",
            "description": "Developmental and epileptic encephalopathy 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080215"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080215",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080215",
            "categories": []
        },
        {
            "id": "MONDO:0010375",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010375",
            "categories": []
        },
        {
            "id": "MIM:300607",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300607",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9QB25-1",
            "uniprot_ac": "A0A8M9QB25",
            "uniprot_id": "A0A8M9QB25_DANRE",
            "refseq_ac": "XP_021336703",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho guanine nucleotide exchange factor 9",
                    "type": "recommended"
                },
                {
                    "name": "Collybistin",
                    "type": "synonym"
                },
                {
                    "name": "Rac/Cdc42 guanine nucleotide exchange factor 9",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor 9b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "arhgef9b",
                    "type": "recommended"
                },
                {
                    "name": "arhgef9b",
                    "type": "synonym"
                },
                {
                    "name": "arhgef9",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj33b10",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QB25-1",
            "evidence": [
                {
                    "id": "0080215",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080215"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3UTH8-1",
            "uniprot_ac": "Q3UTH8",
            "uniprot_id": "ARHG9_MOUSE",
            "refseq_ac": "NP_001028501",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho guanine nucleotide exchange factor 9",
                    "type": "recommended"
                },
                {
                    "name": "CDC42 guanine nucleotide exchange factor (GEF) 9",
                    "type": "synonym"
                },
                {
                    "name": "Collybistin",
                    "type": "synonym"
                },
                {
                    "name": "Rac/Cdc42 guanine nucleotide exchange factor 9",
                    "type": "synonym"
                },
                {
                    "name": "collybistin",
                    "type": "synonym"
                },
                {
                    "name": "rac/Cdc42 guanine nucleotide exchange factor 9",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor 9 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arhgef9",
                    "type": "recommended"
                },
                {
                    "name": "9630036L12Rik",
                    "type": "synonym"
                },
                {
                    "name": "Arhgef9",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0424",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UTH8-1",
            "evidence": [
                {
                    "id": "0080215",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080215"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43307-1",
            "uniprot_ac": "O43307",
            "uniprot_id": "ARHG9_HUMAN",
            "refseq_ac": "NP_001166950",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho guanine nucleotide exchange factor 9",
                    "type": "recommended"
                },
                {
                    "name": "Cdc42 guanine nucleotide exchange factor (GEF) 9",
                    "type": "synonym"
                },
                {
                    "name": "Collybistin",
                    "type": "synonym"
                },
                {
                    "name": "PEM-2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Rac/Cdc42 guanine nucleotide exchange factor 9",
                    "type": "synonym"
                },
                {
                    "name": "hPEM-2 collybistin",
                    "type": "synonym"
                },
                {
                    "name": "rac/Cdc42 guanine nucleotide exchange factor 9",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor 9 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARHGEF9",
                    "type": "recommended"
                },
                {
                    "name": "ARHDH9",
                    "type": "synonym"
                },
                {
                    "name": "ARHGEF9",
                    "type": "synonym"
                },
                {
                    "name": "COLLYBISTIN",
                    "type": "synonym"
                },
                {
                    "name": "DEE8",
                    "type": "synonym"
                },
                {
                    "name": "EIEE8",
                    "type": "synonym"
                },
                {
                    "name": "HPEM-2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0424",
                    "type": "synonym"
                },
                {
                    "name": "PEM-2",
                    "type": "synonym"
                },
                {
                    "name": "PEM2",
                    "type": "synonym"
                }
            ],
            "record_id": "O43307-1",
            "evidence": [
                {
                    "id": "300607",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300607"
                },
                {
                    "id": "0080215",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080215"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QX73-1",
            "uniprot_ac": "Q9QX73",
            "uniprot_id": "ARHG9_RAT",
            "refseq_ac": "NP_076447",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho guanine nucleotide exchange factor 9",
                    "type": "recommended"
                },
                {
                    "name": "Cdc42 guanine nucleotide exchange factor (GEF) 9",
                    "type": "synonym"
                },
                {
                    "name": "Collybistin",
                    "type": "synonym"
                },
                {
                    "name": "Rac/Cdc42 guanine nucleotide exchange factor 9",
                    "type": "synonym"
                },
                {
                    "name": "collybistin I",
                    "type": "synonym"
                },
                {
                    "name": "rac/Cdc42 guanine nucleotide exchange factor 9",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor 9 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor 9-like",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arhgef9",
                    "type": "recommended"
                },
                {
                    "name": "Arhgef9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QX73-1",
            "evidence": [
                {
                    "id": "0080215",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080215"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W0S2-1",
            "uniprot_ac": "Q9W0S2",
            "uniprot_id": "Q9W0S2_DROME",
            "refseq_ac": "NP_612024",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG43976-PL",
                    "type": "synonym"
                },
                {
                    "name": "Rho guanine nucleotide exchange factor 3, isoform L",
                    "type": "synonym"
                },
                {
                    "name": "RhoGEF3-PL",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RhoGEF3",
                    "type": "recommended"
                },
                {
                    "name": "CG1225",
                    "type": "synonym"
                },
                {
                    "name": "CG13881",
                    "type": "synonym"
                },
                {
                    "name": "CG13882",
                    "type": "synonym"
                },
                {
                    "name": "CG13883",
                    "type": "synonym"
                },
                {
                    "name": "CG42377",
                    "type": "synonym"
                },
                {
                    "name": "CG42378",
                    "type": "synonym"
                },
                {
                    "name": "CG43976",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43976",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG43976",
                    "type": "synonym"
                },
                {
                    "name": "DrhoGEF3",
                    "type": "synonym"
                },
                {
                    "name": "RhoGEF3",
                    "type": "synonym"
                },
                {
                    "name": "RhoGEF",
                    "type": "synonym"
                },
                {
                    "name": "rhoGEF3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W0S2-1",
            "evidence": [
                {
                    "id": "0080215",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080215"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080215"
}