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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 2
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Accession:DOID:0060214 term browser browse the term
Definition:An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. (DO)
Synonyms:exact_synonym: FTDALS2
 primary_id: OMIM:615911


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frontotemporal dementia and/or amyotrophic lateral sclerosis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C26H22orf15 chromosome 26 C22orf15 homolog ISO ClinVar Annotator: match by term: FTDALS2 ClinVar PMID:28492532 NCBI chr26:28,744,203...28,747,320
Ensembl chr26:28,745,183...28,746,455 		JBrowse link
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 ISO ClinVar Annotator: match by term: FTDALS2 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22535186 PMID:24934289 PMID:25113787 More... NCBI chr26:28,742,466...28,744,370
Ensembl chr26:28,742,526...28,744,369 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15615
    Diseases of the Aged 1252
      dementia 852
        Frontotemporal Lobar Degeneration 168
          frontotemporal dementia 165
            Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 108
              frontotemporal dementia and/or amyotrophic lateral sclerosis 2 2
Path 2
Term Annotations click to browse term
  disease 15615
    disease of anatomical entity 15198
      nervous system disease 13267
        central nervous system disease 11877
          brain disease 11159
            disease of mental health 8084
              cognitive disorder 2162
                dementia 852
                  Frontotemporal Lobar Degeneration 168
                    frontotemporal dementia 165
                      Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 108
                        frontotemporal dementia and/or amyotrophic lateral sclerosis 2 2
paths to the root