GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
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. [ PMID:16862116 DOID:0060672 PMID:16983677 ]
Term info
- OMIM:607485 (MONDO:equivalentTo)
- DOID:0060672 (MONDO:equivalentTo)
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.
https://omim.org/entry/607485, http://purl.obolibrary.org/obo/DOID_0060672
aphasia, primary progressive, frontotemporal dementia, ubiquitin-positive, frontotemporal lobar degeneration with ubiquitin-positive inclusions, frontotemporal dementia with TDP43 inclusions, GRN-related, frontotemporal lobar degeneration with TDP43 inclusions, GRN-related, FTLD-TDP, GRN-related, dementia, hereditary dysphasic disinhibition
MONDO:0011842