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:X-linked Emery-Dreifuss muscular dystrophy 6
go back to main search page
Accession:DOID:0070251 term browser browse the term
Definition:An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of FHL1 on chromosome Xq26.3. (DO)
Synonyms:exact_synonym: EDMD6;   Emery-Dreifuss muscular dystrophy 6;   X-Linked Myopathy with Postural Muscle Atrophy;   XMPMA
 primary_id: OMIM:300696
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
X-linked Emery-Dreifuss muscular dystrophy 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Myopathy with postural muscle atrophy, X-linked
ClinVar Annotator: match by OMIM:300696
ClinVar Annotator: match by synonym: Emery-dreifuss muscular dystrophy 6
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18179888 PMID:18179901 More... NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Myopathy with postural muscle atrophy, X-linked ClinVar PMID:25741868 NCBI chr 3:61,652,432...61,924,912 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
            X-linked monogenic disease 1021
              X-linked recessive disease 381
                X-linked Emery-Dreifuss muscular dystrophy 6 2
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
                        X-linked Emery-Dreifuss muscular dystrophy 6 2
paths to the root