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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:distal myopathy 4
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Accession:DOID:0111190 term browser browse the term
Definition:A distal myopathy that has_material_basis_in heterozygous mutation in FLNC on 7q32. (DO)
Synonyms:exact_synonym: MPD4;   WILLIAMS DISTAL MYOPATHY;   distal ABD-filaminopathy;   distal muscular dystrophy 4;   distal myopathy with posterior leg and anterior hand involvement
 primary_id: OMIM:614065


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distal myopathy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy5 adenylate cyclase 5 ISO ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement ClinVar PMID:25741868 NCBI chrNW_004936725:1,751,272...1,897,937
Ensembl chrNW_004936725:1,751,266...1,897,946
JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement | ClinVar Annotator: match by term: Myopathy, distal, 4 | ClinVar Annotator: match by term: WILLIAMS DISTAL MYOPATHY OMIM
ClinVar
PMID:2781633 PMID:9536098 PMID:15824355 PMID:16199547 PMID:17576681 More... NCBI chrNW_004936479:15,756,370...15,784,365
Ensembl chrNW_004936479:15,756,370...15,784,359
JBrowse link
G Frmd1 FERM domain containing 1 ISO ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement ClinVar PMID:25741868 NCBI chrNW_004936489:16,799,523...16,830,199
Ensembl chrNW_004936489:16,799,475...16,830,200
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14107
      musculoskeletal system disease 7354
        muscular disease 2030
          muscle tissue disease 1215
            myopathy 938
              muscular dystrophy 563
                distal myopathy 29
                  distal myopathy 4 3
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14107
      nervous system disease 12321
        peripheral nervous system disease 3867
          neuropathy 3685
            neuromuscular disease 2888
              muscular disease 2030
                muscle tissue disease 1215
                  myopathy 938
                    muscular dystrophy 563
                      distal myopathy 29
                        distal myopathy 4 3
paths to the root