{
    "disease_id": "DOID:0111449",
    "recommended_name": {
        "id": "DOID:0111449",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111449",
        "name": "progressive myoclonus epilepsy 6",
        "description": "A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in the GOSR2 gene on chromosome 17q21.32."
    },
    "synonyms": [
        {
            "id": "DOID:0111449",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111449",
            "name": "EPM6",
            "description": ""
        },
        {
            "id": "DOID:0111449",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111449",
            "name": "GOSR2-related progressive myoclonus ataxia",
            "description": ""
        },
        {
            "id": "DOID:0111449",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111449",
            "name": "North Sea progressive myoclonus epilepsy",
            "description": ""
        },
        {
            "id": "DOID:0111449",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111449",
            "name": "PME type 6",
            "description": ""
        },
        {
            "id": "DOID:0111449",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111449",
            "name": "Progressive myoclonus epilepsy type 6",
            "description": ""
        },
        {
            "id": "MONDO:0013526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013526",
            "name": "progressive myoclonic epilepsy type 6",
            "description": "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene."
        },
        {
            "id": "MONDO:0013526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013526",
            "name": "EPM6",
            "description": ""
        },
        {
            "id": "MONDO:0013526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013526",
            "name": "GOSR2 progressive myoclonic epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0013526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013526",
            "name": "GOSR2-related progressive myoclonus ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0013526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013526",
            "name": "North Sea progressive myoclonus epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0013526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013526",
            "name": "PME type 6",
            "description": ""
        },
        {
            "id": "MONDO:0013526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013526",
            "name": "epilepsy, progressive myoclonic 6",
            "description": ""
        },
        {
            "id": "MONDO:0013526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013526",
            "name": "epilepsy, progressive myoclonic, type 6",
            "description": ""
        },
        {
            "id": "MONDO:0013526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013526",
            "name": "progressive myoclonic epilepsy caused by mutation in GOSR2",
            "description": ""
        },
        {
            "id": "MONDO:0013526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013526",
            "name": "progressive myoclonus epilepsy type 6",
            "description": ""
        },
        {
            "id": "MONDO:0013526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013526",
            "name": "epilepsy, progressive myoclonic, 6",
            "description": ""
        },
        {
            "id": "MIM:614018",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614018",
            "name": "Epilepsy, progressive myoclonic 6",
            "description": "Epilepsy, progressive myoclonic 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111449"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111449",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111449",
            "categories": []
        },
        {
            "id": "MONDO:0013526",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013526",
            "categories": []
        },
        {
            "id": "MIM:614018",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614018",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O35166-1",
            "uniprot_ac": "O35166",
            "uniprot_id": "GOSR2_MOUSE",
            "refseq_ac": "NP_062624",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Golgi SNAP receptor complex member 2",
                    "type": "recommended"
                },
                {
                    "name": "27 kDa Golgi SNARE protein",
                    "type": "synonym"
                },
                {
                    "name": "Golgi SNAP receptor complex member 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "Membrin",
                    "type": "synonym"
                },
                {
                    "name": "golgi SNARE",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gosr2",
                    "type": "recommended"
                },
                {
                    "name": "2310032N09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gosr2",
                    "type": "synonym"
                },
                {
                    "name": "Gs27",
                    "type": "synonym"
                },
                {
                    "name": "SNARE",
                    "type": "synonym"
                },
                {
                    "name": "membrin",
                    "type": "synonym"
                }
            ],
            "record_id": "O35166-1",
            "evidence": [
                {
                    "id": "0111449",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111449"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14653-1",
            "uniprot_ac": "O14653",
            "uniprot_id": "GOSR2_HUMAN",
            "refseq_ac": "NP_001012529",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Golgi SNAP receptor complex member 2",
                    "type": "recommended"
                },
                {
                    "name": "27 kDa Golgi SNARE protein",
                    "type": "synonym"
                },
                {
                    "name": "Golgi SNAP receptor complex member 2 isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Membrin",
                    "type": "synonym"
                },
                {
                    "name": "membrin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GOSR2",
                    "type": "recommended"
                },
                {
                    "name": "Bos1",
                    "type": "synonym"
                },
                {
                    "name": "EPM6",
                    "type": "synonym"
                },
                {
                    "name": "GOSR2",
                    "type": "synonym"
                },
                {
                    "name": "GS27",
                    "type": "synonym"
                },
                {
                    "name": "MYOS",
                    "type": "synonym"
                }
            ],
            "record_id": "O14653-1",
            "evidence": [
                {
                    "id": "614018",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614018"
                },
                {
                    "id": "0111449",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111449"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25385-1",
            "uniprot_ac": "P25385",
            "uniprot_id": "BOS1_YEAST",
            "refseq_ac": "NP_013179",
            "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 transport protein BOS1",
                    "type": "recommended"
                },
                {
                    "name": "Bet one suppressor 1",
                    "type": "synonym"
                },
                {
                    "name": "Bos1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BOS1",
                    "type": "recommended"
                },
                {
                    "name": "BOS1",
                    "type": "synonym"
                },
                {
                    "name": "L9449.9",
                    "type": "synonym"
                },
                {
                    "name": "SEC32",
                    "type": "synonym"
                }
            ],
            "record_id": "P25385-1",
            "evidence": [
                {
                    "id": "0111449",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111449"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35165-1",
            "uniprot_ac": "O35165",
            "uniprot_id": "GOSR2_RAT",
            "refseq_ac": "NP_113873",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Golgi SNAP receptor complex member 2",
                    "type": "recommended"
                },
                {
                    "name": "27 kDa Golgi SNARE protein",
                    "type": "synonym"
                },
                {
                    "name": "Golgi SNAP receptor complex member 2",
                    "type": "synonym"
                },
                {
                    "name": "Membrin",
                    "type": "synonym"
                },
                {
                    "name": "membrin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gosr2",
                    "type": "recommended"
                },
                {
                    "name": "Gosr2",
                    "type": "synonym"
                },
                {
                    "name": "Gs27",
                    "type": "synonym"
                }
            ],
            "record_id": "O35165-1",
            "evidence": [
                {
                    "id": "0111449",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111449"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VRL2-1",
            "uniprot_ac": "Q9VRL2",
            "uniprot_id": "GOSR2_DROME",
            "refseq_ac": "NP_647960",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable Golgi SNAP receptor complex member 2",
                    "type": "recommended"
                },
                {
                    "name": "CG4780-PA",
                    "type": "synonym"
                },
                {
                    "name": "Membrin-PA",
                    "type": "synonym"
                },
                {
                    "name": "fmembrin",
                    "type": "synonym"
                },
                {
                    "name": "membrin",
                    "type": "synonym"
                },
                {
                    "name": "moon cheese",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Membrin",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:SD22572",
                    "type": "synonym"
                },
                {
                    "name": "CG4780",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4780",
                    "type": "synonym"
                },
                {
                    "name": "Membrin",
                    "type": "synonym"
                },
                {
                    "name": "Memb",
                    "type": "synonym"
                },
                {
                    "name": "SNARE/membrin",
                    "type": "synonym"
                },
                {
                    "name": "membrin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VRL2-1",
            "evidence": [
                {
                    "id": "0111449",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111449"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111449"
}