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Standards Ontologies Notations
inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Summary
Synonym
  • IBMPFD
  • inclusion body myopathy with Paget's disease of bone and frontotemporal dementia
Definition
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.
Super Class
syndrome
Disease Ontology
DOID:0050881
Mondo Disease Ontology
MeSH
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
1950 EGF epidermal growth factor
3181 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1
5705 PSMC5 proteasome 26S subunit, ATPase 5
7124 TNF tumor necrosis factor
7415 VCP valosin containing protein
Displaying all 3 entries
Gene ID Gene Symbol Description Source
13645 Egf epidermal growth factor
19184 Psmc5 protease (prosome, macropain) 26S subunit, ATPase 5
21926 Tnf tumor necrosis factor
Displaying all 2 entries
Gene ID Gene Symbol Description Source
24835 Tnf tumor necrosis factor
25313 Egf epidermal growth factor
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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024