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- NCIT_C122663 IAO_0000115 "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." @default.
- NCIT_C122663 NCIT_NHC0 "C122663" @default.
- NCIT_C122663 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C122663 NCIT_P108 "Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1" @default.
- NCIT_C122663 NCIT_P207 "C1833662" @default.
- NCIT_C122663 NCIT_P322 "Cellosaurus" @default.
- NCIT_C122663 NCIT_R176 NCIT_C124932 @default.
- NCIT_C122663 NCIT_R176 NCIT_C16612 @default.
- NCIT_C122663 NCIT_R176 NCIT_C21281 @default.
- NCIT_C122663 NCIT_R176 NCIT_C25804 @default.
- NCIT_C122663 NCIT_R176 NCIT_C25952 @default.
- NCIT_C122663 normalizedInformationContent "100" @default.
- NCIT_C122663 referenceCount "1" @default.
- NCIT_C122663 hasExactSynonym "IBMPFD1" @default.
- NCIT_C122663 hasExactSynonym "Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1" @default.
- NCIT_C122663 inSubset NCIT_C165258 @default.
- NCIT_C122663 inSubset NCIT_C192842 @default.
- NCIT_C122663 type Class @default.
- NCIT_C122663 isDefinedBy ncit.owl @default.
- NCIT_C122663 label "Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1" @default.
- NCIT_C122663 subClassOf B4655312458c7b6c484bff577fc356716 @default.
- NCIT_C122663 subClassOf B788cea141b8c11c4ba17150315ebb9e9 @default.
- NCIT_C122663 subClassOf NCIT_C122663 @default.
- NCIT_C122663 subClassOf NCIT_C28193 @default.
- NCIT_C122663 subClassOf NCIT_C2991 @default.
- NCIT_C122663 subClassOf NCIT_C35561 @default.
- NCIT_C122663 subClassOf NCIT_C4873 @default.
- NCIT_C122663 subClassOf NCIT_C54705 @default.
- NCIT_C122663 subClassOf NCIT_C7057 @default.