{
    "disease_id": "DOID:0111227",
    "recommended_name": {
        "id": "DOID:0111227",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111227",
        "name": "frontotemporal dementia and/or amyotrophic lateral sclerosis 7",
        "description": "A frontotemporal dementia and/or amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in CHMP2B on 3p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111227",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111227",
            "name": "ALS17",
            "description": ""
        },
        {
            "id": "DOID:0111227",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111227",
            "name": "FTD3",
            "description": ""
        },
        {
            "id": "DOID:0111227",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111227",
            "name": "CHMP2B-related frontotemporal dementia",
            "description": ""
        },
        {
            "id": "DOID:0111227",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111227",
            "name": "amyotrophic lateral sclerosis type 17",
            "description": ""
        },
        {
            "id": "DOID:0111227",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111227",
            "name": "AMYOTROPHIC LATERAL SCLEROSIS",
            "description": ""
        },
        {
            "id": "DOID:0111227",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111227",
            "name": "AMYOTROPHIC LATERAL SCLEROSIS 17 (FORMERLY)",
            "description": ""
        },
        {
            "id": "DOID:0111227",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111227",
            "name": "CHMP2B-RELATED",
            "description": ""
        },
        {
            "id": "DOID:0111227",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111227",
            "name": "FRONTOTEMPORAL DEMENTIA",
            "description": ""
        },
        {
            "id": "DOID:0111227",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111227",
            "name": "FTDALS7",
            "description": ""
        },
        {
            "id": "DOID:0111227",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111227",
            "name": "chromosome 3-linked frontotemporal dementia",
            "description": ""
        },
        {
            "id": "MONDO:0010936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010936",
            "name": "frontotemporal dementia and/or amyotrophic lateral sclerosis 7",
            "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the CHMP2B gene."
        },
        {
            "id": "MONDO:0010936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010936",
            "name": "CHMP2B amyotrophic lateral sclerosis",
            "description": ""
        },
        {
            "id": "MONDO:0010936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010936",
            "name": "CHMP2B-related amyotrophic lateral sclerosis",
            "description": ""
        },
        {
            "id": "MONDO:0010936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010936",
            "name": "FTD3",
            "description": ""
        },
        {
            "id": "MONDO:0010936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010936",
            "name": "amyotrophic lateral sclerosis caused by mutation in CHMP2B",
            "description": ""
        },
        {
            "id": "MONDO:0010936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010936",
            "name": "amyotrophic lateral sclerosis, Chmp2B-related",
            "description": ""
        },
        {
            "id": "MONDO:0010936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010936",
            "name": "frontotemporal dementia, chromosome 3-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010936",
            "name": "frontotemporal dementia and/or amyotrophic lateral sclerosis 7",
            "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the CHMP2B gene."
        },
        {
            "id": "MONDO:0010936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010936",
            "name": "CHMP2B amyotrophic lateral sclerosis",
            "description": ""
        },
        {
            "id": "MONDO:0010936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010936",
            "name": "CHMP2B-related amyotrophic lateral sclerosis",
            "description": ""
        },
        {
            "id": "MONDO:0010936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010936",
            "name": "FTD3",
            "description": ""
        },
        {
            "id": "MONDO:0010936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010936",
            "name": "amyotrophic lateral sclerosis caused by mutation in CHMP2B",
            "description": ""
        },
        {
            "id": "MONDO:0010936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010936",
            "name": "amyotrophic lateral sclerosis, Chmp2B-related",
            "description": ""
        },
        {
            "id": "MONDO:0010936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010936",
            "name": "frontotemporal dementia, chromosome 3-linked",
            "description": ""
        },
        {
            "id": "MIM:600795",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600795",
            "name": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 7",
            "description": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111227"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111227",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111227",
            "categories": []
        },
        {
            "id": "MONDO:0010936",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010936",
            "categories": []
        },
        {
            "id": "MIM:600795",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600795",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6NXD2-1",
            "uniprot_ac": "Q6NXD2",
            "uniprot_id": "CHM2B_DANRE",
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            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Charged multivesicular body protein 2b",
                    "type": "recommended"
                },
                {
                    "name": "CHMP2b",
                    "type": "synonym"
                },
                {
                    "name": "Chromatin-modifying protein 2b",
                    "type": "synonym"
                },
                {
                    "name": "charged multivesicular body protein 2b",
                    "type": "synonym"
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                {
                    "name": "chromatin modifying protein 2B, like",
                    "type": "synonym"
                },
                {
                    "name": "chromatin modifying protein 2Bb",
                    "type": "synonym"
                },
                {
                    "name": "chromatin-modifying protein 2b",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "chmp2b",
                    "type": "recommended"
                },
                {
                    "name": "chmp2bb",
                    "type": "synonym"
                },
                {
                    "name": "chmp2bl",
                    "type": "synonym"
                },
                {
                    "name": "chmp2b",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-106g5.3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:77025",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NXD2-1",
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                {
                    "id": "0111227",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111227"
                }
            ]
        },
        {
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            "uniprot_ac": "B0UXH0",
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                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Charged multivesicular body protein 2Ba",
                    "type": "synonym"
                },
                {
                    "name": "charged multivesicular body protein 2Ba",
                    "type": "synonym"
                },
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                    "name": "chmp2b",
                    "type": "synonym"
                },
                {
                    "name": "chromatin modifying protein 2Ba",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "chmp2ba",
                    "type": "recommended"
                },
                {
                    "name": "chmp2ba",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-224m9.5",
                    "type": "synonym"
                }
            ],
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                    "id": "0111227",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111227"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BJF9-1",
            "uniprot_ac": "Q8BJF9",
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            "refseq_ac": "NP_081155",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Charged multivesicular body protein 2b",
                    "type": "recommended"
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                {
                    "name": "CHMP2b",
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                {
                    "name": "charged multivesicular body protein 2b",
                    "type": "synonym"
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                {
                    "name": "chromatin modifying protein 2B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chmp2b",
                    "type": "recommended"
                },
                {
                    "name": "1190006E07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Chmp2b",
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                }
            ],
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                    "id": "0111227",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UQN3-1",
            "uniprot_ac": "Q9UQN3",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Charged multivesicular body protein 2b",
                    "type": "recommended"
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                {
                    "name": "CHMP2.5",
                    "type": "synonym"
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                {
                    "name": "CHMP2b",
                    "type": "synonym"
                },
                {
                    "name": "Chromatin-modifying protein 2b",
                    "type": "synonym"
                },
                {
                    "name": "VPS2 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar protein sorting-associated protein 2-2",
                    "type": "synonym"
                },
                {
                    "name": "Vps2-2",
                    "type": "synonym"
                },
                {
                    "name": "charged multivesicular body protein 2b isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "chromatin modifying protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "hVps2-2",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein-sorting-associated protein 2-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CHMP2B",
                    "type": "recommended"
                },
                {
                    "name": "ALS17",
                    "type": "synonym"
                },
                {
                    "name": "CGI-84",
                    "type": "synonym"
                },
                {
                    "name": "CHMP2.5",
                    "type": "synonym"
                },
                {
                    "name": "CHMP2B",
                    "type": "synonym"
                },
                {
                    "name": "DMT1",
                    "type": "synonym"
                },
                {
                    "name": "FTDALS7",
                    "type": "synonym"
                },
                {
                    "name": "VPS2-2",
                    "type": "synonym"
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                {
                    "name": "VPS2B",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "600795",
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                    "url": "https://www.omim.org/entry/600795"
                },
                {
                    "id": "0111227",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111227"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36108-1",
            "uniprot_ac": "P36108",
            "uniprot_id": "DID4_YEAST",
            "refseq_ac": "NP_012924",
            "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": "DOA4-independent degradation protein 4",
                    "type": "recommended"
                },
                {
                    "name": "ESCRT-III complex subunit VPS2",
                    "type": "synonym"
                },
                {
                    "name": "ESCRT-III subunit protein DID4",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar protein-sorting-associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar protein-targeting protein 14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DID4",
                    "type": "recommended"
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                {
                    "name": "CHM2",
                    "type": "synonym"
                },
                {
                    "name": "DID4",
                    "type": "synonym"
                },
                {
                    "name": "GRD7",
                    "type": "synonym"
                },
                {
                    "name": "REN1",
                    "type": "synonym"
                },
                {
                    "name": "VPL2",
                    "type": "synonym"
                },
                {
                    "name": "VPS14",
                    "type": "synonym"
                },
                {
                    "name": "VPS2",
                    "type": "synonym"
                },
                {
                    "name": "VPT14",
                    "type": "synonym"
                }
            ],
            "record_id": "P36108-1",
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                {
                    "id": "0111227",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111227"
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            ]
        },
        {
            "uniprot_canonical_ac": "F1M8B7-1",
            "uniprot_ac": "F1M8B7",
            "uniprot_id": "F1M8B7_RAT",
            "refseq_ac": "NP_001385742",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Charged multivesicular body protein 2B",
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                {
                    "name": "charged multivesicular body protein 2b",
                    "type": "synonym"
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                {
                    "name": "chromatin modifying protein 2B",
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            ],
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                {
                    "name": "Chmp2b",
                    "type": "recommended"
                },
                {
                    "name": "Chmp2b",
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                },
                {
                    "name": "RGD1306781",
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            ],
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                    "id": "0111227",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VRJ5-1",
            "uniprot_ac": "Q9VRJ5",
            "uniprot_id": "Q9VRJ5_DROME",
            "refseq_ac": "NP_647947",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG4618-PA",
                    "type": "synonym"
                },
                {
                    "name": "CHMP2B-PA",
                    "type": "synonym"
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                {
                    "name": "Charged multivesicular body protein 2b",
                    "type": "synonym"
                },
                {
                    "name": "charged multivesicular body protein 2b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CHMP2B",
                    "type": "recommended"
                },
                {
                    "name": "CG4618",
                    "type": "synonym"
                },
                {
                    "name": "CHMP2B",
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                },
                {
                    "name": "Dmel\\CG4618",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4618",
                    "type": "synonym"
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                {
                    "name": "cg4618",
                    "type": "synonym"
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            ],
            "record_id": "Q9VRJ5-1",
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                    "id": "0111227",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111227"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111227"
}