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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. [ DOID:0060672 http://www.ncbi.nlm.nih.gov/pubmed/16862116 http://www.ncbi.nlm.nih.gov/pubmed/16983677 ]

This is just here as a test because I lose it

Term information

database cross reference
Subsets

gard_rare, otar, rare

exactMatch

http://linkedlifedata.com/resource/umls/id/C1843792

http://identifiers.org/medgen/375285

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 ubiquitin-positive inclusions

frontotemporal dementia with TDP43 inclusions, GRN-related

FTLD-TDP, GRN-related

frontotemporal lobar degeneration with TDP43 inclusions, GRN-related

dementia, hereditary dysphasic disinhibition

id

MONDO:0011842