ONTOLOGY REPORT - ANNOTATIONS


Term:epidermolysis bullosa simplex with muscular dystrophy
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Accession:DOID:0090017 term browser browse the term
Definition:An autosomal recessive disease characterized early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24. (DO)
Synonyms:exact_synonym: EBSMD;   MD-EBS;   MDEBS;   epidermolysis bullosa simplex and limb-girdle muscular dystrophy;   limb-girdle muscular dystrophy with epidermolysis bullosa simplex
 primary_id: MESH:C535955
 alt_id: OMIM:226670;   RDO:0001343
 xref: ORDO:257
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epidermolysis bullosa simplex with muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plec plectin JBrowse link 7 117,230,319 117,291,859 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          muscular dystrophy 242
            limb-girdle muscular dystrophy 115
              epidermolysis bullosa simplex with muscular dystrophy 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        peripheral nervous system disease 2009
          neuropathy 1830
            neuromuscular disease 1411
              muscular disease 908
                muscle tissue disease 636
                  myopathy 523
                    muscular dystrophy 242
                      limb-girdle muscular dystrophy 115
                        epidermolysis bullosa simplex with muscular dystrophy 1
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