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Glycan Structure Repository
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Glycoconjugate Repository
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Glycomics MS raw data Repository
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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
frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Summary
- Synonym
-
- ALSFTD
- FTDALS1
- FTDMND
- amyotrophic lateral sclerosis and/or frontotemporal dementia
- frontotemporal dementia and/or motor neuron disease
- Definition
- An amyotrophic lateral sclerosis that has_material_basis_in mutation in the C9ORF72 gene on chromosome 9. 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:0060213
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002460 | Distal muscle weakness |
| HP:0001300 | Parkinsonism |
| HP:0007190 | Neuronal loss in the cerebral cortex |
| HP:0002127 | Abnormal upper motor neuron morphology |
| HP:0000741 | Apathy |
| HP:0002366 | Abnormal lower motor neuron morphology |
| HP:0008619 | Bilateral sensorineural hearing impairment |
| HP:0002171 | Gliosis |
| HP:0001265 | Hyporeflexia |
| HP:0002385 | Paraparesis |
