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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 TMEM43 on chromosome 3p25.1. (DO)
Synonyms:exact_synonym: EDMD7;   Emery-Dreifuss muscular dystrophy 7, AD
 primary_id: OMIM:614302
 alt_id: RDO:9000286
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:614302
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 7, autosomal dominant
OMIM
ClinVar
PMID:21391237 PMID:21636032 PMID:23812740 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:123,118,468...123,133,610
Ensembl chr 4:123,118,468...123,133,609
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal dominant disease 3034
                autosomal dominant Emery-Dreifuss muscular dystrophy 7 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            neuromuscular disease 1763
              muscular disease 1168
                muscle tissue disease 792
                  myopathy 644
                    muscular dystrophy 314
                      Emery-Dreifuss muscular dystrophy 35
                        autosomal dominant Emery-Dreifuss muscular dystrophy 7 1
paths to the root