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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:2733290 PMID:4684700 PMID:9500556 PMID:10580070 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          Laminopathies 56
            Autosomal Emery-Dreifuss Muscular Dystrophy 2
              autosomal recessive Emery-Dreifuss muscular dystrophy 3 1
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
                      Emery-Dreifuss muscular dystrophy 122
                        Autosomal Emery-Dreifuss Muscular Dystrophy 2
                          autosomal recessive Emery-Dreifuss muscular dystrophy 3 1
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