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ONTOLOGY REPORT - ANNOTATIONS


Term:epidermolysis bullosa dystrophica
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Accession:DOID:4959 term browser browse the term
Definition:Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS.
Synonyms:exact_synonym: Dystrophic Epidermolysis Bullosa;   Dystrophic Epidermolysis Bullosa, Autosomal Recessive;   Dystrophic Epidermolysis Bullosas;   EBR1;   Epidermolysis Bullosa Dystrophica, Autosomal Recessive;   Epidermolysis Bullosa Dystrophica, Hallopeau Siemens Type;   Epidermolysis Bullosa Dystrophica, Recessive;   Epidermolysis Bullosa Dystrophicas;   Epidermolysis bullosa dystrophica, AR;   Hallopeau Siemens Disease;   RDEB
 narrow_synonym: EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE;   EPIDERMOLYSIS BULLOSA DYSTROPHICA, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT;   epidermolysis bullosa dystrophica, AR, epidermolysis bullosa dystrophica, AD
 primary_id: MESH:D016108
 alt_id: OMIA:000341;   OMIM:226600;   RDO:0001345
 xref: GARD:2150;   NCI:C84691
For additional species annotation, visit the Alliance of Genome Resources.


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epidermolysis bullosa dystrophica 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:1600946
RGD:8554872
RGD:7240710
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12743601
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:7240710
RGD:8549728
autosomal dominant 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:7240710
RGD:8554872
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant 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
Epidermolysis Bullosa Pruriginosa 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:7240710
RGD:8554872
epidermolysis bullosa with congenital localized absence of skin and deformity of nails 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:7240710
RGD:8554872
Pretibial 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:7240710
RGD:8554872
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
transient bullous demolysis of the newborn 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:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      musculoskeletal system disease 4281
        connective tissue disease 2779
          collagen disease 281
            epidermolysis bullosa dystrophica 4
              Epidermolysis Bullosa Dystrophica Neurotrophica 0
              Epidermolysis Bullosa Dystrophica with Subcorneal Cleavage 0
              Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant 1
              Epidermolysis Bullosa Inversa Dystrophica 0
              Epidermolysis Bullosa Pruriginosa 1
              Pretibial Epidermolysis Bullosa 1
              autosomal dominant dystrophic epidermolysis bullosa + 1
              recessive dystrophic epidermolysis bullosa 3
              transient bullous demolysis of the newborn 1
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        sensory system disease 4685
          skin disease 2467
            Skin Abnormalities 501
              epidermolysis bullosa 49
                epidermolysis bullosa dystrophica 4
                  Epidermolysis Bullosa Dystrophica Neurotrophica 0
                  Epidermolysis Bullosa Dystrophica with Subcorneal Cleavage 0
                  Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant 1
                  Epidermolysis Bullosa Inversa Dystrophica 0
                  Epidermolysis Bullosa Pruriginosa 1
                  Pretibial Epidermolysis Bullosa 1
                  autosomal dominant dystrophic epidermolysis bullosa + 1
                  recessive dystrophic epidermolysis bullosa 3
                  transient bullous demolysis of the newborn 1
paths to the root

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