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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 chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15993
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15946
        genetic disease 15936
          Laminopathies 51
            Autosomal Emery-Dreifuss Muscular Dystrophy 1
              autosomal recessive Emery-Dreifuss muscular dystrophy 3 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13809
      nervous system disease 12068
        peripheral nervous system disease 3809
          neuropathy 3628
            neuromuscular disease 2837
              muscular disease 1988
                muscle tissue disease 1189
                  myopathy 918
                    muscular dystrophy 543
                      Emery-Dreifuss muscular dystrophy 116
                        Autosomal Emery-Dreifuss Muscular Dystrophy 1
                          autosomal recessive Emery-Dreifuss muscular dystrophy 3 1
paths to the root