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

ONTOLOGY REPORT - ANNOTATIONS


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: MESH:C567591
 alt_id: MESH:C567480;   OMIM:300696;   RDO:0015543;   RDO:0015636
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
X-linked Emery-Dreifuss muscular dystrophy 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fhl1 four and a half LIM domains 1 JBrowse link X 159,112,516 159,172,528 RGD:7240710
RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    Developmental Diseases 8986
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7802
        genetic disease 7293
          monogenic disease 4988
            X-linked monogenic disease 854
              X-linked recessive disease 212
                X-linked Emery-Dreifuss muscular dystrophy 6 2
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        peripheral nervous system disease 2182
          neuropathy 2006
            neuromuscular disease 1578
              muscular disease 1019
                muscle tissue disease 703
                  myopathy 564
                    muscular dystrophy 281
                      Emery-Dreifuss muscular dystrophy 35
                        X-linked Emery-Dreifuss muscular dystrophy 6 2
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.