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Metadata
ID DOID:0060672
Name Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
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.
https://www.ncbi.nlm.nih.gov/pubmed/16862116, https://www.ncbi.nlm.nih.gov/pubmed/16983677
Xrefs

ICD10CM:G31.0

MIM:607485

Parent Relationships

is_a frontotemporal dementia

is_a autosomal dominant disease

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