{
    "disease_id": "DOID:0060205",
    "recommended_name": {
        "id": "DOID:0060205",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060205",
        "name": "frontotemporal dementia and/or amyotrophic lateral sclerosis 6",
        "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VCP gene on chromosome 9p13."
    },
    "synonyms": [
        {
            "id": "DOID:0060205",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060205",
            "name": "amyotrophic lateral sclerosis, with or without frontotemporal dementia",
            "description": ""
        },
        {
            "id": "DOID:0060205",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060205",
            "name": "ALS14",
            "description": ""
        },
        {
            "id": "DOID:0060205",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060205",
            "name": "amyotrophic lateral sclerosis 14",
            "description": ""
        },
        {
            "id": "DOID:0060205",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060205",
            "name": "amyotrophic lateral sclerosis type 14",
            "description": ""
        },
        {
            "id": "MONDO:0013501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013501",
            "name": "frontotemporal dementia and/or amyotrophic lateral sclerosis 6",
            "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VCP gene."
        },
        {
            "id": "MONDO:0013501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013501",
            "name": "VCP amyotrophic lateral sclerosis",
            "description": ""
        },
        {
            "id": "MONDO:0013501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013501",
            "name": "amyotrophic lateral sclerosis caused by mutation in VCP",
            "description": ""
        },
        {
            "id": "MIM:613954",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613954",
            "name": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 6",
            "description": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060205"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060205",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060205",
            "categories": []
        },
        {
            "id": "MONDO:0013501",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013501",
            "categories": []
        },
        {
            "id": "MIM:613954",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613954",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZU99-1",
            "uniprot_ac": "Q7ZU99",
            "uniprot_id": "TERA_DANRE",
            "refseq_ac": "NP_958889",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transitional endoplasmic reticulum ATPase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.6",
                    "type": "synonym"
                },
                {
                    "name": "Protein CDC48",
                    "type": "synonym"
                },
                {
                    "name": "TER ATPase",
                    "type": "synonym"
                },
                {
                    "name": "VCP",
                    "type": "synonym"
                },
                {
                    "name": "Valosin-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "protein CDC48",
                    "type": "synonym"
                },
                {
                    "name": "transitional endoplasmic reticulum ATPase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "vcp",
                    "type": "recommended"
                },
                {
                    "name": "CDC48",
                    "type": "synonym"
                },
                {
                    "name": "cdc48",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-113n10.2",
                    "type": "synonym"
                },
                {
                    "name": "vcp",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd16d05",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj63d11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZU99-1",
            "evidence": [
                {
                    "id": "0060205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060205"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01853-1",
            "uniprot_ac": "Q01853",
            "uniprot_id": "TERA_MOUSE",
            "refseq_ac": "NP_033529",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transitional endoplasmic reticulum ATPase",
                    "type": "recommended"
                },
                {
                    "name": "15S Mg(2+)-ATPase p97 subunit",
                    "type": "synonym"
                },
                {
                    "name": "3.6.4.6",
                    "type": "synonym"
                },
                {
                    "name": "AAA ATPase p97",
                    "type": "synonym"
                },
                {
                    "name": "Inv protein",
                    "type": "synonym"
                },
                {
                    "name": "TER ATPase",
                    "type": "synonym"
                },
                {
                    "name": "VCP",
                    "type": "synonym"
                },
                {
                    "name": "Valosin-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "homolog of yeast cdc48",
                    "type": "synonym"
                },
                {
                    "name": "transitional endoplasmic reticulum ATPase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vcp",
                    "type": "recommended"
                },
                {
                    "name": "3110001E05",
                    "type": "synonym"
                },
                {
                    "name": "CDC48",
                    "type": "synonym"
                },
                {
                    "name": "Vcp",
                    "type": "synonym"
                },
                {
                    "name": "p97/VCP",
                    "type": "synonym"
                },
                {
                    "name": "p97",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01853-1",
            "evidence": [
                {
                    "id": "0060205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060205"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P55072-1",
            "uniprot_ac": "P55072",
            "uniprot_id": "TERA_HUMAN",
            "refseq_ac": "NP_009057",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transitional endoplasmic reticulum ATPase",
                    "type": "recommended"
                },
                {
                    "name": "15S Mg(2+)-ATPase p97 subunit",
                    "type": "synonym"
                },
                {
                    "name": "3.6.4.6",
                    "type": "synonym"
                },
                {
                    "name": "TER ATPase",
                    "type": "synonym"
                },
                {
                    "name": "VCP",
                    "type": "synonym"
                },
                {
                    "name": "Valosin-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "transitional endoplasmic reticulum ATPase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "transitional endoplasmic reticulum ATPase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VCP",
                    "type": "recommended"
                },
                {
                    "name": "CDC48",
                    "type": "synonym"
                },
                {
                    "name": "FTDALS6",
                    "type": "synonym"
                },
                {
                    "name": "HEL-220",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-70",
                    "type": "synonym"
                },
                {
                    "name": "TERA",
                    "type": "synonym"
                },
                {
                    "name": "VCP",
                    "type": "synonym"
                },
                {
                    "name": "p97",
                    "type": "synonym"
                }
            ],
            "record_id": "P55072-1",
            "evidence": [
                {
                    "id": "613954",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613954"
                },
                {
                    "id": "0060205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060205"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25694-1",
            "uniprot_ac": "P25694",
            "uniprot_id": "CDC48_YEAST",
            "refseq_ac": "NP_010157",
            "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": "AAA family ATPase involved in ubiquitin-mediated protein degradation CDC48",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.6",
                    "type": "synonym"
                },
                {
                    "name": "AAA family ATPase CDC48",
                    "type": "synonym"
                },
                {
                    "name": "Cell division control protein 48",
                    "type": "synonym"
                },
                {
                    "name": "Cell division cycle protein 48",
                    "type": "synonym"
                },
                {
                    "name": "Transitional endoplasmic reticulum ATPase homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDC48",
                    "type": "recommended"
                },
                {
                    "name": "CDC48",
                    "type": "synonym"
                }
            ],
            "record_id": "P25694-1",
            "evidence": [
                {
                    "id": "0060205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060205"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46462-1",
            "uniprot_ac": "P46462",
            "uniprot_id": "TERA_RAT",
            "refseq_ac": "NP_446316",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transitional endoplasmic reticulum ATPase",
                    "type": "recommended"
                },
                {
                    "name": "15S Mg(2+)-ATPase p97 subunit",
                    "type": "synonym"
                },
                {
                    "name": "3.6.4.6",
                    "type": "synonym"
                },
                {
                    "name": "TER ATPase",
                    "type": "synonym"
                },
                {
                    "name": "VCP",
                    "type": "synonym"
                },
                {
                    "name": "Valosin-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "transitional endoplasmic reticulum ATPase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vcp",
                    "type": "recommended"
                },
                {
                    "name": "Vcp",
                    "type": "synonym"
                }
            ],
            "record_id": "P46462-1",
            "evidence": [
                {
                    "id": "0060205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060205"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KN62-1",
            "uniprot_ac": "Q7KN62",
            "uniprot_id": "TERA_DROME",
            "refseq_ac": "NP_001097249",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transitional endoplasmic reticulum ATPase TER94",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.6",
                    "type": "synonym"
                },
                {
                    "name": "CG2331-PC",
                    "type": "synonym"
                },
                {
                    "name": "TER94-PC",
                    "type": "synonym"
                },
                {
                    "name": "TRANSITIONAL ENDOPLASMIC RETICULUM ATPASE TER94",
                    "type": "synonym"
                },
                {
                    "name": "Ter94",
                    "type": "synonym"
                },
                {
                    "name": "VCP",
                    "type": "synonym"
                },
                {
                    "name": "Valosin-Containing protein",
                    "type": "synonym"
                },
                {
                    "name": "Valosin-containing protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "complementation group I",
                    "type": "synonym"
                },
                {
                    "name": "group VIII",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) 46Db",
                    "type": "synonym"
                },
                {
                    "name": "p97 ATPase",
                    "type": "synonym"
                },
                {
                    "name": "p97",
                    "type": "synonym"
                },
                {
                    "name": "transitional endoplasmic reticulum 94, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "transitional endoplasmic reticulum 94",
                    "type": "synonym"
                },
                {
                    "name": "transitional endoplasmic reticulum ATPase",
                    "type": "synonym"
                },
                {
                    "name": "valosin containing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TER94",
                    "type": "recommended"
                },
                {
                    "name": "(VCP)/p97",
                    "type": "synonym"
                },
                {
                    "name": "22.26",
                    "type": "synonym"
                },
                {
                    "name": "7.12",
                    "type": "synonym"
                },
                {
                    "name": "Apple",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA.GM02885",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GM02885",
                    "type": "synonym"
                },
                {
                    "name": "CDC48",
                    "type": "synonym"
                },
                {
                    "name": "CG2331",
                    "type": "synonym"
                },
                {
                    "name": "DmTER94",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2331",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2331",
                    "type": "synonym"
                },
                {
                    "name": "I",
                    "type": "synonym"
                },
                {
                    "name": "Q7KN62",
                    "type": "synonym"
                },
                {
                    "name": "TER94",
                    "type": "synonym"
                },
                {
                    "name": "Ter 94",
                    "type": "synonym"
                },
                {
                    "name": "Ter94",
                    "type": "synonym"
                },
                {
                    "name": "Tera",
                    "type": "synonym"
                },
                {
                    "name": "VCP ATPase",
                    "type": "synonym"
                },
                {
                    "name": "VCP/p97",
                    "type": "synonym"
                },
                {
                    "name": "VCP1",
                    "type": "synonym"
                },
                {
                    "name": "VCP",
                    "type": "synonym"
                },
                {
                    "name": "VIII",
                    "type": "synonym"
                },
                {
                    "name": "Vcp",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO2004063362.65",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO2004063362.67",
                    "type": "synonym"
                },
                {
                    "name": "cdc48",
                    "type": "synonym"
                },
                {
                    "name": "dTERA",
                    "type": "synonym"
                },
                {
                    "name": "dVCP",
                    "type": "synonym"
                },
                {
                    "name": "dmTERA",
                    "type": "synonym"
                },
                {
                    "name": "dvcp",
                    "type": "synonym"
                },
                {
                    "name": "l(2)03775",
                    "type": "synonym"
                },
                {
                    "name": "l(2)46CFf",
                    "type": "synonym"
                },
                {
                    "name": "l(2)46CFs",
                    "type": "synonym"
                },
                {
                    "name": "l(2)46Ch",
                    "type": "synonym"
                },
                {
                    "name": "l(2)46Db",
                    "type": "synonym"
                },
                {
                    "name": "p97",
                    "type": "synonym"
                },
                {
                    "name": "pTER94",
                    "type": "synonym"
                },
                {
                    "name": "ter94",
                    "type": "synonym"
                },
                {
                    "name": "vcp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KN62-1",
            "evidence": [
                {
                    "id": "0060205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060205"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060205"
}