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ONTOLOGY REPORT - ANNOTATIONS


Term:recessive dystrophic epidermolysis bullosa
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Accession:DOID:0060642 term browser browse the term
Definition:An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21. (DO)
Synonyms:exact_synonym: RDEB, Hallopeau-Siemens type;   autosomal recessive dystrophic epidermolysis bullosa generalisata gravis;   autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type;   autosomal recessive epidermolysis bullosa dystrophica inversa
 narrow_synonym: severe generalized RDEB;   severe generalized recessive dystrophic epidermolysis bullosa
 primary_id: MESH:C567122
 alt_id: RDO:0015282
 xref: ORDO:79408
For additional species annotation, visit the Alliance of Genome Resources.


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recessive dystrophic epidermolysis bullosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:8554872
RGD:13592920
G Grip1 glutamate receptor interacting protein 1 JBrowse link 7 64,672,723 64,854,939 RGD:13592920
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    sensory system disease 4674
      skin disease 2461
        vesiculobullous skin disease 109
          epidermolysis bullosa 49
            epidermolysis bullosa dystrophica 4
              recessive dystrophic epidermolysis bullosa 3
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          skin disease 2461
            vesiculobullous skin disease 109
              epidermolysis bullosa 49
                epidermolysis bullosa dystrophica 4
                  recessive dystrophic epidermolysis bullosa 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.