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

This is just here as a test because I lose it

Term information

database cross reference
Subsets

matrix_llm__is_cancer_other, gard_rare, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_member, matrix_llm__txgnn_other, mondo_top_grouping_hereditary_disease, matrix_txgnn_grouping_neurodegenerative_disease, harrisons_view_psychiatric_disorder, matrix_llm__tag_existing_treatment_other, matrix_included, mondo_top_grouping_psychiatric_disorder, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, matrix_txgnn_grouping_member, rare, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_hereditary_disease, matrix_txgnn_grouping_psychiatric_disorder, harrisons_view_nervous_system_disorder

contributor

https://orcid.org/0000-0002-4142-7153

https://orcid.org/0000-0003-2955-4640

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