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 / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Summary
- Synonym
-
- FTDALS2
- Definition
- An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.
- Super Class
- amyotrophic lateral sclerosis
External Links
- Disease Ontology
- DOID:0060214
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002300 | Mutism |
| HP:0002314 | Degeneration of the lateral corticospinal tracts |
| HP:0002366 | Abnormal lower motor neuron morphology |
| HP:0002380 | Fasciculations |
| HP:0002385 | Paraparesis |
| HP:0002442 | Dyscalculia |
| HP:0002460 | Distal muscle weakness |
| HP:0003487 | Babinski sign |
| HP:0003700 | Generalized amyotrophy |
| HP:0003701 | Proximal muscle weakness |
