{
    "disease_id": "DOID:0111301",
    "recommended_name": {
        "id": "DOID:0111301",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111301",
        "name": "generalized epilepsy with febrile seizures plus 9",
        "description": "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in STX1B on chromosome 16p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111301",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111301",
            "name": "GEFS+9",
            "description": ""
        },
        {
            "id": "DOID:0111301",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111301",
            "name": "GEFSP9",
            "description": ""
        },
        {
            "id": "DOID:0111301",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111301",
            "name": "generalised epilepsy with febrile seizures plus 9",
            "description": ""
        },
        {
            "id": "DOID:0111301",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111301",
            "name": "generalized epilepsy with febrile seizures plus type 9",
            "description": ""
        },
        {
            "id": "DOID:0111301",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111301",
            "name": "generalised epilepsy with febrile seizures plus type 9",
            "description": ""
        },
        {
            "id": "MONDO:0014517",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014517",
            "name": "generalized epilepsy with febrile seizures plus, type 9",
            "description": "Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene."
        },
        {
            "id": "MONDO:0014517",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014517",
            "name": "STX1B generalised epilepsy with febrile seizures plus",
            "description": ""
        },
        {
            "id": "MONDO:0014517",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014517",
            "name": "STX1B generalized epilepsy with febrile seizures plus",
            "description": ""
        },
        {
            "id": "MONDO:0014517",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014517",
            "name": "STX1b generalised epilepsy with febrile seizures plus",
            "description": ""
        },
        {
            "id": "MONDO:0014517",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014517",
            "name": "STX1b generalized epilepsy with febrile seizures plus",
            "description": ""
        },
        {
            "id": "MONDO:0014517",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014517",
            "name": "generalised epilepsy with febrile seizures plus caused by mutation in STX1B",
            "description": ""
        },
        {
            "id": "MONDO:0014517",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014517",
            "name": "generalised epilepsy with febrile seizures plus caused by mutation in STX1b",
            "description": ""
        },
        {
            "id": "MONDO:0014517",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014517",
            "name": "generalized epilepsy with febrile seizures plus caused by mutation in STX1B",
            "description": ""
        },
        {
            "id": "MONDO:0014517",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014517",
            "name": "generalized epilepsy with febrile seizures plus caused by mutation in STX1b",
            "description": ""
        },
        {
            "id": "MONDO:0014517",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014517",
            "name": "generalized epilepsy with febrile seizures plus, type 9",
            "description": ""
        },
        {
            "id": "MONDO:0014517",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014517",
            "name": "GEFSP9",
            "description": ""
        },
        {
            "id": "MIM:616172",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616172",
            "name": "Generalized epilepsy with febrile seizures plus 9",
            "description": "Generalized epilepsy with febrile seizures plus 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111301"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111301",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111301",
            "categories": []
        },
        {
            "id": "MONDO:0014517",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014517",
            "categories": []
        },
        {
            "id": "MIM:616172",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616172",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P61264-1",
            "uniprot_ac": "P61264",
            "uniprot_id": "STX1B_MOUSE",
            "refseq_ac": "NP_077725",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Syntaxin-1B",
                    "type": "recommended"
                },
                {
                    "name": "syntaxin 1B1",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin 1B2",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin-1B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stx1b",
                    "type": "recommended"
                },
                {
                    "name": "Stx1b1",
                    "type": "synonym"
                },
                {
                    "name": "Stx1b2",
                    "type": "synonym"
                },
                {
                    "name": "Stx1bl",
                    "type": "synonym"
                },
                {
                    "name": "Stx1b",
                    "type": "synonym"
                },
                {
                    "name": "Syn1b",
                    "type": "synonym"
                }
            ],
            "record_id": "P61264-1",
            "evidence": [
                {
                    "id": "0111301",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111301"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61266-1",
            "uniprot_ac": "P61266",
            "uniprot_id": "STX1B_HUMAN",
            "refseq_ac": "NP_443106",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Syntaxin-1B",
                    "type": "recommended"
                },
                {
                    "name": "Syntaxin-1B1",
                    "type": "synonym"
                },
                {
                    "name": "Syntaxin-1B2",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin-1B1",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin-1B2",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin-1B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STX1B",
                    "type": "recommended"
                },
                {
                    "name": "GEFSP9",
                    "type": "synonym"
                },
                {
                    "name": "STX1B1",
                    "type": "synonym"
                },
                {
                    "name": "STX1B2",
                    "type": "synonym"
                },
                {
                    "name": "STX1B",
                    "type": "synonym"
                }
            ],
            "record_id": "P61266-1",
            "evidence": [
                {
                    "id": "616172",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616172"
                },
                {
                    "id": "0111301",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111301"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32867-1",
            "uniprot_ac": "P32867",
            "uniprot_id": "SSO1_YEAST",
            "refseq_ac": "NP_015092",
            "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": "Protein SSO1",
                    "type": "recommended"
                },
                {
                    "name": "syntaxin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SSO1",
                    "type": "recommended"
                },
                {
                    "name": "P1405",
                    "type": "synonym"
                },
                {
                    "name": "SSO1",
                    "type": "synonym"
                }
            ],
            "record_id": "P32867-1",
            "evidence": [
                {
                    "id": "0111301",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111301"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61265-1",
            "uniprot_ac": "P61265",
            "uniprot_id": "STX1B_RAT",
            "refseq_ac": "NP_036832",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Syntaxin-1B",
                    "type": "recommended"
                },
                {
                    "name": "P35B",
                    "type": "synonym"
                },
                {
                    "name": "Syntaxin 2",
                    "type": "synonym"
                },
                {
                    "name": "Syntaxin-1B2",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin 1B2",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin-1B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stx1b",
                    "type": "recommended"
                },
                {
                    "name": "Stx1b2",
                    "type": "synonym"
                },
                {
                    "name": "Stx1b",
                    "type": "synonym"
                },
                {
                    "name": "Stx2",
                    "type": "synonym"
                }
            ],
            "record_id": "P61265-1",
            "evidence": [
                {
                    "id": "0111301",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111301"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24547-1",
            "uniprot_ac": "Q24547",
            "uniprot_id": "STX1A_DROME",
            "refseq_ac": "NP_001303545",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Syntaxin-1A",
                    "type": "recommended"
                },
                {
                    "name": "CG31136-PC",
                    "type": "synonym"
                },
                {
                    "name": "STX1A",
                    "type": "synonym"
                },
                {
                    "name": "Syx1A-PC",
                    "type": "synonym"
                },
                {
                    "name": "dSynt1",
                    "type": "synonym"
                },
                {
                    "name": "dsyntaxin-1A",
                    "type": "synonym"
                },
                {
                    "name": "synataxin 1",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin 1A, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin 1A",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin-1A",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin1A",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin1",
                    "type": "synonym"
                },
                {
                    "name": "syntx 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Syx1A",
                    "type": "recommended"
                },
                {
                    "name": "CG10716",
                    "type": "synonym"
                },
                {
                    "name": "CG18615",
                    "type": "synonym"
                },
                {
                    "name": "CG31136",
                    "type": "synonym"
                },
                {
                    "name": "CG5448",
                    "type": "synonym"
                },
                {
                    "name": "CT30033",
                    "type": "synonym"
                },
                {
                    "name": "Dm Syx1",
                    "type": "synonym"
                },
                {
                    "name": "DmSyx1A",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31136",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31136",
                    "type": "synonym"
                },
                {
                    "name": "STX1",
                    "type": "synonym"
                },
                {
                    "name": "SYX 1A",
                    "type": "synonym"
                },
                {
                    "name": "SYX1A",
                    "type": "synonym"
                },
                {
                    "name": "SYX",
                    "type": "synonym"
                },
                {
                    "name": "Stx1a",
                    "type": "synonym"
                },
                {
                    "name": "Sx1A",
                    "type": "synonym"
                },
                {
                    "name": "Synx1A",
                    "type": "synonym"
                },
                {
                    "name": "Syn",
                    "type": "synonym"
                },
                {
                    "name": "Syt1A",
                    "type": "synonym"
                },
                {
                    "name": "Syx-1A",
                    "type": "synonym"
                },
                {
                    "name": "Syx1A",
                    "type": "synonym"
                },
                {
                    "name": "Syx1a",
                    "type": "synonym"
                },
                {
                    "name": "Syx1",
                    "type": "synonym"
                },
                {
                    "name": "SyxA",
                    "type": "synonym"
                },
                {
                    "name": "Syx",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Gibbs4",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO02059370.54",
                    "type": "synonym"
                },
                {
                    "name": "dSyx1",
                    "type": "synonym"
                },
                {
                    "name": "dsyn-1A",
                    "type": "synonym"
                },
                {
                    "name": "l(3)06737",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin1A",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin",
                    "type": "synonym"
                },
                {
                    "name": "synt",
                    "type": "synonym"
                },
                {
                    "name": "syt-1A",
                    "type": "synonym"
                },
                {
                    "name": "sytx",
                    "type": "synonym"
                },
                {
                    "name": "syx-1A",
                    "type": "synonym"
                },
                {
                    "name": "syx-1",
                    "type": "synonym"
                },
                {
                    "name": "syx1A",
                    "type": "synonym"
                },
                {
                    "name": "syx1",
                    "type": "synonym"
                },
                {
                    "name": "syx",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24547-1",
            "evidence": [
                {
                    "id": "0111301",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111301"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111301"
}