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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:0002442 | Dyscalculia |
| HP:0000474 | Thickened nuchal skin fold |
| HP:0002371 | Loss of speech |
| HP:0000719 | Inappropriate behavior |
| HP:0006892 | Frontotemporal cerebral atrophy |
| HP:0001268 | Mental deterioration |
| HP:0011204 | EEG with continuous slow activity |
| HP:0000737 | Irritability |
| HP:0002446 | Astrocytosis |
| HP:0000709 | Psychosis |
