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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
Summary
- Synonym
-
- ALS17 (FORMERLY)
- AMYOTROPHIC LATERAL SCLEROSIS
- AMYOTROPHIC LATERAL SCLEROSIS 17 (FORMERLY)
- CHMP2B-RELATED
- CHMP2B-related frontotemporal dementia
- FRONTOTEMPORAL DEMENTIA
- FTD3
- FTDALS7
- amyotrophic lateral sclerosis type 17
- chromosome 3-linked frontotemporal dementia
- Definition
- A frontotemporal dementia and/or amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in CHMP2B on 3p11.2.
- Super Class
- amyotrophic lateral sclerosis frontotemporal dementia
External Links
- Disease Ontology
- DOID:0111227
- Mondo Disease Ontology
- MeSH
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002071 | Abnormality of extrapyramidal motor function |
| HP:0012671 | Abulia |
| HP:0010526 | Dysgraphia |
| HP:0000733 | Motor stereotypy |
| HP:0002381 | Aphasia |
| HP:0000711 | Restlessness |
| HP:0002300 | Mutism |
| HP:0002493 | Upper motor neuron dysfunction |
| HP:0000751 | Personality changes |
