RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:
inclusion body myopathy with Paget disease of bone and frontotemporal dementia
A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein. (DO)
Synonyms:
exact_synonym:
IBMPFD; INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; Inclusion Body Myopathy with Paget Disease of Bone and-or Frontotemporal Dementia; Lower Motor Neuron Degeneration With Paget-Like Bone Disease; Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone; Pagetoid Amyotrophic Lateral Sclerosis; inclusion body myopathy with Paget's disease of bone and frontotemporal dementia; inclusion body myopathy with early-onset Paget disease of bone and-or frontotemporal dementia; pagetoid neuroskeletal syndrome
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 1
ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 2
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