| Metadata | |
|---|---|
| ID | DOID:0111227 |
| PURL | http://purl.obolibrary.org/obo/DOID_0111227 Copy |
| Name | frontotemporal dementia and/or amyotrophic lateral sclerosis 7 |
| Definition | A frontotemporal dementia and/or amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in CHMP2B on 3p11.2. https://medlineplus.gov/genetics/condition/chmp2b-related-frontotemporal-dementia/#resources, https://www.ncbi.nlm.nih.gov/books/NBK1199/, https://www.ncbi.nlm.nih.gov/pubmed/16041373 |
| Xrefs | |
| Alternateids |
DOID:0060208 |
| Synonyms |
ALS17 [EXACT] AMYOTROPHIC LATERAL SCLEROSIS 17 (FORMERLY) [EXACT] AMYOTROPHIC LATERAL SCLEROSIS [EXACT] amyotrophic lateral sclerosis type 17 [EXACT] CHMP2B-RELATED [EXACT] CHMP2B-related frontotemporal dementia [EXACT] chromosome 3-linked frontotemporal dementia [EXACT] FRONTOTEMPORAL DEMENTIA [EXACT] FTD3 [EXACT] FTDALS7 [EXACT] |
| Parent Relationships |