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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 dominant Emery-Dreifuss muscular dystrophy 7
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Accession:DOID:0070252 term browser browse the term
Definition:An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the TMEM43 gene on chromosome 3p25.1. (DO)
Synonyms:exact_synonym: EDMD7;   Emery-Dreifuss muscular dystrophy 7, AD
 primary_id: OMIM:614302


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autosomal dominant Emery-Dreifuss muscular dystrophy 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 7, AD | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 7, autosomal dominant OMIM
ClinVar		 PMID:18230648 PMID:18313022 PMID:18414213 PMID:20435227 PMID:21391237 More... NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18447
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18306
        genetic disease 18250
          monogenic disease 10365
            autosomal genetic disease 9518
              autosomal dominant disease 6235
                autosomal dominant Emery-Dreifuss muscular dystrophy 7 1
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      nervous system disease 14061
        peripheral nervous system disease 4113
          neuropathy 3898
            neuromuscular disease 3056
              muscular disease 2146
                muscle tissue disease 1293
                  myopathy 1008
                    muscular dystrophy 599
                      Emery-Dreifuss muscular dystrophy 122
                        autosomal dominant Emery-Dreifuss muscular dystrophy 7 1
paths to the root