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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:frontotemporal dementia and/or amyotrophic lateral sclerosis 4
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Accession:DOID:0110069 term browser browse the term
Definition:An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TBK1 gene on chromosome 12q14. (DO)
Synonyms:exact_synonym: FTDALS4
 primary_id: MIM:616439


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frontotemporal dementia and/or amyotrophic lateral sclerosis 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ClinVar PMID:25741868 PMID:28492532 PMID:32579787 NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858 		JBrowse link
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: FTDALS4 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21447600 PMID:22851595 More... NCBI chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    Developmental Disease 14582
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13621
        genetic disease 13292
          frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2
Path 2
Term Annotations click to browse term
  disease 19065
    disease of anatomical entity 18355
      nervous system disease 14221
        central nervous system disease 12556
          brain disease 11776
            disease of mental health 8368
              cognitive disorder 2306
                dementia 874
                  Frontotemporal Lobar Degeneration 172
                    frontotemporal dementia 169
                      Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 110
                        frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2
paths to the root