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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 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: FTDALS4
 primary_id: OMIM:616439
For additional species annotation, visit the Alliance of Genome Resources.


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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 NCBI chr 7:70,515,832...70,552,897
Ensembl chr 7:70,513,343...70,556,827
JBrowse link
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ClinVar
OMIM
PMID:25700176, PMID:25741868, PMID:25803835, PMID:25943890, PMID:26476236, PMID:26581300, PMID:28008748, PMID:28365590, PMID:28492532, PMID:28822984, PMID:30033073, PMID:30311386 NCBI chr 7:63,655,247...63,687,978
Ensembl chr 7:63,655,247...63,687,978
JBrowse link

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-4 2
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-4 2
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.