Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3
Summary
- Synonym
-
- IBMPFD3
- MSP3
- multisystem proteinopathy 3
- Definition
- An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13.13.
- Super Class
- autosomal dominant disease inclusion body myopathy with Paget disease of bone and frontotemporal dementia
External Links
- Disease Ontology
- DOID:0111386
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002381 | Aphasia |
| HP:0002442 | Dyscalculia |
| HP:0002450 | Abnormal motor neuron morphology |
| HP:0002460 | Distal muscle weakness |
| HP:0002463 | Language impairment |
| HP:0002493 | Upper motor neuron dysfunction |
| HP:0002515 | Waddling gait |
| HP:0002659 | Increased susceptibility to fractures |
| HP:0002683 | Abnormal calvaria morphology |
| HP:0002756 | Pathologic fracture |
