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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:myofibrillar myopathy 5
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Accession:DOID:0080096 term browser browse the term
Definition:A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32. (DO)
Synonyms:exact_synonym: FLNB-Related Disorders;   MFM, filamin C-related;   MFM5;   filamin C-related myofibrillar myopathy;   filaminopathy;   filaminopathy, autosomal dominant
 primary_id: MESH:C537932
 alt_id: OMIM:609524;   RDO:0003849
For additional species annotation, visit the Alliance of Genome Resources.


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myofibrillar myopathy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin B ISO ClinVar Annotator: match by term: FLNB-Related Disorders ClinVar NCBI chr15:18,750,152...18,883,019
Ensembl chr15:18,750,118...18,883,005
JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related
ClinVar Annotator: match by OMIM:609524
OMIM
ClinVar
PMID:15929027 PMID:17412757 PMID:18414213 PMID:19050726 PMID:21520333 PMID:21620354 PMID:22961544 PMID:24033266 PMID:25208129 PMID:25351925 PMID:25617006 PMID:25633252 PMID:25741868 PMID:26436962 PMID:26467025 PMID:26472074 PMID:26555887 PMID:26666891 PMID:26688388 PMID:26969713 PMID:27296017 PMID:27574918 PMID:27601210 PMID:27908349 PMID:28008423 PMID:28256728 PMID:28356264 PMID:28403181 PMID:28416588 PMID:28436997 PMID:28492532 PMID:29030401 PMID:29858533 PMID:29970176 PMID:30067491 PMID:30260051 PMID:30411535 PMID:30539912 PMID:31421687 NCBI chr 4:56,710,934...56,738,779
Ensembl chr 4:56,711,049...56,738,791
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital structural myopathy 150
        myofibrillar myopathy 56
          myofibrillar myopathy 5 2
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            neuromuscular disease 1763
              muscular disease 1168
                muscle tissue disease 792
                  myopathy 644
                    congenital structural myopathy 150
                      myofibrillar myopathy 56
                        myofibrillar myopathy 5 2
paths to the root