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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:autosomal recessive Emery-Dreifuss muscular dystrophy 3
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Accession:DOID:0070248 term browser browse the term
Definition:An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22. (DO)
Synonyms:exact_synonym: EDMD3;   atypical Emery-Dreifuss muscular dystrophy, autosomal recessive
 primary_id: MESH:C567633
 alt_id: OMIM:616516


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autosomal recessive Emery-Dreifuss muscular dystrophy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 3, autosomal recessive OMIM
ClinVar		 PMID:2007407 PMID:2526018 PMID:2733290 PMID:4684700 PMID:9500556 More... NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    Developmental Disease 17263
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17177
        genetic disease 17158
          Laminopathies 55
            Autosomal Emery-Dreifuss Muscular Dystrophy 2
              autosomal recessive Emery-Dreifuss muscular dystrophy 3 1
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        peripheral nervous system disease 3991
          neuropathy 3800
            neuromuscular disease 2980
              muscular disease 2091
                muscle tissue disease 1265
                  myopathy 980
                    muscular dystrophy 588
                      Emery-Dreifuss muscular dystrophy 127
                        Autosomal Emery-Dreifuss Muscular Dystrophy 2
                          autosomal recessive Emery-Dreifuss muscular dystrophy 3 1
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