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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 with anterior tibial onset
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Accession:DOID:0111187 term browser browse the term
Definition:A distal myopathy that is characterized by onset at 14-28 years of age starting first in the anterior tibial muscles and involving both upper and lower proximal muscles that has_material_basis_in homozygous mutation in the gene encoding dysferlin (DYSF) on chromosome 2p13. (DO)
Synonyms:exact_synonym: DMAT;   distal muscular dystrophy with anterior tibial onset
 primary_id: MESH:C564664
 alt_id: OMIM:606768
 xref: ORDO:178400


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distal myopathy with anterior tibial onset term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dysf dysferlin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Distal myopathy with anterior tibial onset		 OMIM
CTD
ClinVar		 PMID:2766772 PMID:9536098 PMID:9731526 PMID:11053681 PMID:11198284 More... NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                distal myopathy with anterior tibial onset 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        peripheral nervous system disease 4122
          neuropathy 3906
            neuromuscular disease 3059
              muscular disease 2148
                muscle tissue disease 1294
                  myopathy 1008
                    muscular dystrophy 599
                      distal myopathy 33
                        distal myopathy with anterior tibial onset 1
paths to the root