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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 7
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Accession:DOID:0111227 term browser browse the term
Definition:A frontotemporal dementia and/or amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in CHMP2B on 3p11.2. (DO)
Synonyms:exact_synonym: ALS17;   ALS17 (FORMERLY);   AMYOTROPHIC LATERAL SCLEROSIS 17 (FORMERLY);   CHMP2B-RELATED;   CHMP2B-related amyotrophic lateral sclerosis;   CHMP2B-related frontotemporal dementia;   DEM;   DMT1;   DTM1;   FTD-3;   FTD-CHMP2B;   FTD3;   FTDALS7;   amyotrophic lateral sclerosis 17;   amyotrophic lateral sclerosis type 17;   chromosome 3-linked frontotemporal dementia;   familial nonspecific dementia
 broad_synonym: CHMP2B-related condition
 alt_id: DOID:0060208
 xref: MESH:C563708;   MESH:C579991;   MIM:600795;   MIM:614696


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frontotemporal dementia and/or amyotrophic lateral sclerosis 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chmp2b charged multivesicular body protein 2B ISO ClinVar Annotator: match by term: CHMP2B-related condition | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 OMIM
ClinVar		 PMID:9536098 PMID:16041373 PMID:16431024 PMID:16807408 PMID:16941655 More... NCBI chr11:3,337,478...3,364,015
Ensembl chr11:3,337,494...3,385,181 		JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:3,316,818...3,334,804
Ensembl chr11:3,317,058...3,334,801 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    Diseases of the Aged 1475
      dementia 876
        Frontotemporal Lobar Degeneration 172
          frontotemporal dementia 169
            Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 110
              frontotemporal dementia and/or amyotrophic lateral sclerosis 7 2
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        central nervous system disease 12608
          brain disease 11837
            disease of mental health 8428
              cognitive disorder 2317
                dementia 876
                  Frontotemporal Lobar Degeneration 172
                    frontotemporal dementia 169
                      Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 110
                        frontotemporal dementia and/or amyotrophic lateral sclerosis 7 2
paths to the root