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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:0002795 | Abnormal respiratory system physiology |
| HP:0008955 | Progressive distal muscular atrophy |
| HP:0003394 | Muscle spasm |
| HP:0012473 | Tongue atrophy |
| HP:0004326 | Cachexia |
| HP:0002463 | Language impairment |
| HP:0007373 | Motor neuron atrophy |
| HP:0003324 | Generalized muscle weakness |
| HP:0012378 | Fatigue |
| HP:0003487 | Babinski sign |
