{
    "disease_id": "DOID:0111385",
    "recommended_name": {
        "id": "DOID:0111385",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111385",
        "name": "inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1",
        "description": "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in VCP on chromosome 9p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111385",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111385",
            "name": "IBMPFD1",
            "description": ""
        },
        {
            "id": "DOID:0111385",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111385",
            "name": "MSP1",
            "description": ""
        },
        {
            "id": "DOID:0111385",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111385",
            "name": "multisystem proteinopathy 1",
            "description": ""
        },
        {
            "id": "MONDO:0008178",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008178",
            "name": "inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1",
            "description": "A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia."
        },
        {
            "id": "MONDO:0008178",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008178",
            "name": "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008178",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008178",
            "name": "inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1",
            "description": ""
        },
        {
            "id": "MONDO:0008178",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008178",
            "name": "IBMPFD1",
            "description": ""
        },
        {
            "id": "MONDO:0008178",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008178",
            "name": "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1",
            "description": ""
        },
        {
            "id": "MIM:167320",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/167320",
            "name": "Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1",
            "description": "Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111385"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111385",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111385",
            "categories": []
        },
        {
            "id": "MONDO:0008178",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008178",
            "categories": []
        },
        {
            "id": "MIM:167320",
            "database": "MIM",
            "url": "https://www.omim.org/entry/167320",
            "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": "0111385",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111385"
                }
            ]
        },
        {
            "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": "0111385",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111385"
                }
            ]
        },
        {
            "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": "167320",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/167320"
                },
                {
                    "id": "0111385",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111385"
                }
            ]
        },
        {
            "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": "0111385",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111385"
                }
            ]
        },
        {
            "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": "0111385",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111385"
                }
            ]
        },
        {
            "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": "0111385",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111385"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111385"
}