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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 LMNA on chromosome 1q22. (DO)
Synonyms:exact_synonym: EDMD3;   atypical Emery-Dreifuss muscular dystrophy, autosomal recessive
 primary_id: MESH:C567633
 alt_id: OMIM:616516
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        genetic disease 7958
          monogenic disease 5739
            autosomal genetic disease 4756
              autosomal recessive disease 2617
                autosomal recessive Emery-Dreifuss muscular dystrophy 3 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        peripheral nervous system disease 2425
          neuropathy 2241
            neuromuscular disease 1763
              muscular disease 1168
                muscle tissue disease 791
                  myopathy 643
                    muscular dystrophy 313
                      Emery-Dreifuss muscular dystrophy 35
                        autosomal recessive Emery-Dreifuss muscular dystrophy 3 1
paths to the root