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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 chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974 		JBrowse link
G Flnc filamin C ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:2781633 PMID:9536098 PMID:15824355 PMID:15929027 PMID:16199547 More... NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844 		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 chr 1:55,079,285...55,090,230 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        muscular disease 2148
          muscle tissue disease 1294
            myopathy 1008
              muscular dystrophy 600
                distal myopathy 33
                  distal myopathy 4 3
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        peripheral nervous system disease 4124
          neuropathy 3907
            neuromuscular disease 3059
              muscular disease 2148
                muscle tissue disease 1294
                  myopathy 1008
                    muscular dystrophy 600
                      distal myopathy 33
                        distal myopathy 4 3
paths to the root