Terminology Service for NFDI4Health

Grn-related frontotemporal lobar degeneration with Tdp43 inclusions

Go to external page http://purl.obolibrary.org/obo/MONDO_0011842


A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31. [ http://www.ncbi.nlm.nih.gov/pubmed/16983677 http://www.ncbi.nlm.nih.gov/pubmed/16862116 ]

Term info

Label

Grn-related frontotemporal lobar degeneration with Tdp43 inclusions

database cross reference
exactMatch

https://omim.org/entry/607485, http://purl.obolibrary.org/obo/DOID_0060672

has related synonym

aphasia, primary progressive, frontotemporal dementia, ubiquitin-positive, frontotemporal lobar degeneration with Tdp43 inclusions, Grn-related, frontotemporal dementia with Tdp43 inclusions, Grn-related, Ftld-TDP, Grn-related, dementia, hereditary dysphasic disinhibition, frontotemporal lobar Degeneration with ubiquitin-positive inclusions

id

MONDO:0011842