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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-3
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Accession:DOID:0110068 term browser browse the term
Definition:An autosomal dominant neurodegenerative disorder characterized by adult or late adult onset of cognitive impairment, behavioral abnormalities, and speech apraxia and/or upper and lower motor neuron signs.(OMIM)
Synonyms:exact_synonym: FTDALS3
 primary_id: OMIM:616437
For additional species annotation, visit the Alliance of Genome Resources.


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frontotemporal dementia and/or amyotrophic lateral sclerosis-3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by OMIM:616437
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
ClinVar Annotator: match by term: FTDALS3
OMIM
ClinVar
PMID:11992264, PMID:15176995, PMID:15493999, PMID:15647816, PMID:15765181, PMID:16813535, PMID:17229007, PMID:18543015, PMID:18765443, PMID:19257822, PMID:19589897, PMID:20499339, PMID:21195346, PMID:21515589, PMID:21878516, PMID:22084127, PMID:23417734, PMID:23942205, PMID:24033266, PMID:24042580, PMID:24486447, PMID:24899140, PMID:25241215, PMID:25741868, PMID:26627873, PMID:26713335, PMID:27275741, PMID:27594680, PMID:28430856, PMID:28492532, PMID:29457785, PMID:29599744, PMID:30154079 NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          frontotemporal dementia and/or amyotrophic lateral sclerosis-3 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              cognitive disorder 1914
                dementia 670
                  Frontotemporal Lobar Degeneration 61
                    frontotemporal dementia 56
                      Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7
                        frontotemporal dementia and/or amyotrophic lateral sclerosis-3 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.