Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 5
go back to main search page
Accession:DOID:0070250 term browser browse the term
Definition:An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of SYNE2 on chromosome 14q23.2. (DO)
Synonyms:exact_synonym: EDMD5;   Emery-Dreifuss muscular dystrophy 5
 primary_id: MESH:C567830
 alt_id: OMIM:612999
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
autosomal dominant Emery-Dreifuss muscular dystrophy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant
ClinVar Annotator: match by term: Emery-dreifuss muscular dystrophy 5, autosomal dominant
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:17761684 PMID:18414213 PMID:22995991 More... NCBI chr 6:94,537,088...94,848,085 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                autosomal dominant Emery-Dreifuss muscular dystrophy 5 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        peripheral nervous system disease 2533
          neuropathy 2330
            neuromuscular disease 1835
              muscular disease 1236
                muscle tissue disease 827
                  myopathy 661
                    muscular dystrophy 323
                      Emery-Dreifuss muscular dystrophy 35
                        autosomal dominant Emery-Dreifuss muscular dystrophy 5 1
paths to the root