{
    "disease_id": "DOID:0110683",
    "recommended_name": {
        "id": "DOID:0110683",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110683",
        "name": "developmental and epileptic encephalopathy 117",
        "description": "A developmental and epileptic encephalopathy that is characterized by global developmental delay, hypotonia, delayed walking or inability to walk, and variably impaired intellectual development with poor or absent speech and that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11."
    },
    "synonyms": [
        {
            "id": "DOID:0110683",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110683",
            "name": "CMS18",
            "description": ""
        },
        {
            "id": "DOID:0110683",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110683",
            "name": "congenital myasthenic syndrome 18",
            "description": ""
        },
        {
            "id": "DOID:0110683",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110683",
            "name": "DEE117",
            "description": ""
        },
        {
            "id": "MONDO:0014590",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014590",
            "name": "congenital myasthenic syndrome 18",
            "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene."
        },
        {
            "id": "MONDO:0014590",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014590",
            "name": "CMS18",
            "description": ""
        },
        {
            "id": "MONDO:0014590",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014590",
            "name": "SNAP25 congenital myasthenic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014590",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014590",
            "name": "SNAP25-DEE",
            "description": ""
        },
        {
            "id": "MONDO:0014590",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014590",
            "name": "congenital myasthenic syndrome caused by mutation in SNAP25",
            "description": ""
        },
        {
            "id": "MONDO:0014590",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014590",
            "name": "congenital myasthenic syndrome type 18",
            "description": ""
        },
        {
            "id": "MONDO:0014590",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014590",
            "name": "myasthenic syndrome, congenital, 18",
            "description": ""
        },
        {
            "id": "MONDO:0014590",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014590",
            "name": "myasthenic syndrome, congenital, 18, with intellectual disability and ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0014590",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014590",
            "name": "myasthenic syndrome, congenital, type 18",
            "description": ""
        },
        {
            "id": "MIM:616330",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616330",
            "name": "Developmental and epileptic encephalopathy 117",
            "description": "Developmental and epileptic encephalopathy 117"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110683"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110683",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110683",
            "categories": []
        },
        {
            "id": "MONDO:0014590",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014590",
            "categories": []
        },
        {
            "id": "MIM:616330",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616330",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "Q6PC54-1",
            "uniprot_ac": "Q6PC54",
            "uniprot_id": "SN25B_DANRE",
            "refseq_ac": "NP_571509",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Synaptosomal-associated protein 25-B",
                    "type": "recommended"
                },
                {
                    "name": "SNAP-25.2",
                    "type": "synonym"
                },
                {
                    "name": "SNAP-B",
                    "type": "synonym"
                },
                {
                    "name": "Synaptosome-associated protein 25.2",
                    "type": "synonym"
                },
                {
                    "name": "synaptosomal-associated protein 25-B",
                    "type": "synonym"
                },
                {
                    "name": "synaptosomal-associated protein, 25b",
                    "type": "synonym"
                },
                {
                    "name": "synaptosome associated protein 25,2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "snap25b",
                    "type": "recommended"
                },
                {
                    "name": "Snap",
                    "type": "synonym"
                },
                {
                    "name": "snap25.2",
                    "type": "synonym"
                },
                {
                    "name": "snap25b",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj33h05",
                    "type": "synonym"
                }
            ],
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                    "id": "0110683",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110683"
                }
            ]
        },
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                    "common_name": "Zebrafish",
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                }
            ],
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                {
                    "name": "Synaptosomal-associated protein 25-A",
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                {
                    "name": "SNAP-25.1",
                    "type": "synonym"
                },
                {
                    "name": "SNAP-25A",
                    "type": "synonym"
                },
                {
                    "name": "Synaptosome-associated protein 25.1",
                    "type": "synonym"
                },
                {
                    "name": "etID17571.20",
                    "type": "synonym"
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                {
                    "name": "etID69167.20",
                    "type": "synonym"
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                {
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                },
                {
                    "name": "synaptosomal-associated protein, 25a",
                    "type": "synonym"
                }
            ],
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                    "name": "snap25a",
                    "type": "recommended"
                },
                {
                    "name": "Snap",
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                },
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                    "name": "fj42b02",
                    "type": "synonym"
                },
                {
                    "name": "fj45g04",
                    "type": "synonym"
                },
                {
                    "name": "fj48c02",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-8f4.6",
                    "type": "synonym"
                },
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                    "name": "snap25.1",
                    "type": "synonym"
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                {
                    "name": "snap25a",
                    "type": "synonym"
                },
                {
                    "name": "snap25",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj42b02",
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                },
                {
                    "name": "wu:fj45g04",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj48c02",
                    "type": "synonym"
                }
            ],
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                    "id": "0110683",
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                }
            ]
        },
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            "uniprot_ac": "P60879",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Synaptosomal-associated protein 25",
                    "type": "recommended"
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                    "name": "SNAP-25",
                    "type": "synonym"
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                    "name": "SUP",
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                },
                {
                    "name": "Super protein",
                    "type": "synonym"
                },
                {
                    "name": "Synaptosomal-associated 25 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "blind drunk",
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                    "name": "super protein",
                    "type": "synonym"
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                {
                    "name": "synaptosomal-associated 25 kDa protein",
                    "type": "synonym"
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                {
                    "name": "synaptosomal-associated protein 25 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "synaptosomal-associated protein, 25 kDa",
                    "type": "synonym"
                }
            ],
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                    "name": "Snap25",
                    "type": "recommended"
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                },
                {
                    "name": "GENA70",
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                    "name": "SUP",
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                },
                {
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                },
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                {
                    "name": "Super protein",
                    "type": "synonym"
                },
                {
                    "name": "Synaptosomal-associated 25 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "resistance to inhibitors of cholinesterase 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "synaptosomal-associated protein 25 isoform SNAP25A",
                    "type": "synonym"
                },
                {
                    "name": "synaptosomal-associated protein, 25kDa",
                    "type": "synonym"
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                {
                    "name": "synaptosome associated protein 25kDa",
                    "type": "synonym"
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            ],
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                    "name": "SNAP25",
                    "type": "recommended"
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                    "name": "CMS18",
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                },
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                    "name": "DEE117",
                    "type": "synonym"
                },
                {
                    "name": "RIC-4",
                    "type": "synonym"
                },
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                    "name": "RIC4",
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                {
                    "name": "SEC9",
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                    "name": "SUP",
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                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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            ],
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                    "name": "Sporulation-specific protein 20",
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
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                    "reference_species": "Rattus norvegicus [10116]"
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                    "name": "Synaptosomal-associated protein 25",
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                    "name": "Synaptosomal-associated 25 kDa protein",
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                    "name": "Drosophila melanogaster",
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                    "name": "Dmel\\CG40452",
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                    "name": "SNAP25",
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                    "name": "dSnap25",
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                    "name": "snap-25",
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                    "id": "0110683",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110683"
}