OBO ID: DOID:0111385
Term Name: inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 Search Ontology:
Synonyms:
  • IBMPFD1
  • MSP1
  • multisystem proteinopathy 1
Definition: 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. https://www.ncbi.nlm.nih.gov/pubmed/15034582
References:
Ontology: Human Disease   ( DOID:0111385 )
OTHER inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
VCP Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None