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Summary Literature (0)
DOID:0060672 - Grn-related frontotemporal lobar degeneration with Tdp43 inclusions


Disease Ontology Definition: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.

Synonyms:

In OMIM:
OMIM:607485 - FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED

In Mondo Disease Ontology:
MONDO:0011842 - Grn-related frontotemporal lobar degeneration with Tdp43 inclusions

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : grn

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): frontotemporal dementia (is_a)