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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:autosomal dominant dystrophic epidermolysis bullosa
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Accession:DOID:0080224 term browser browse the term
Definition:An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal dominant inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. (DO)
Synonyms:exact_synonym: Cockayne Touraine disease;   DDEB;   EBDCT;   albopapuloid dominant dystrophic EB;   epidermolysis bullosa dystrophica, AD;   epidermolysis bullosa dystrophica, Cockayne Touraine type;   epidermolysis bullosa dystrophica, Pasini type;   epidermolysis bullosa dystrophica, autosomal dominant;   epidermolysis bullosa dystrophica, dominant;   epidermolysis bullosa, Cockayne Touraine type
 narrow_synonym: ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA;   EBDD EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE;   EBDSC
 primary_id: MESH:C535956
 alt_id: OMIM:131750
 xref: GARD:2139


show annotations for term's descendants           Sort by:
autosomal dominant dystrophic epidermolysis bullosa term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1680286 PMID:7577595 PMID:7695699 PMID:7833933 PMID:7861014 More... NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252 		JBrowse link
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:25741868 PMID:28492532 NCBI chr10:85,137,786...85,142,054
Ensembl chr10:85,066,802...85,171,799 		JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:16098032 More... NCBI chr 7:132,846,132...132,851,861
Ensembl chr 7:132,846,136...132,851,850 		JBrowse link
epidermolysis bullosa with congenital localized absence of skin and deformity of nails term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE		 OMIM
CTD
ClinVar		 PMID:2425097 PMID:5910871 PMID:7695699 PMID:7833933 PMID:8088783 More... NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Skin and Connective Tissue Diseases 7431
        connective tissue disease 5757
          collagen disease 482
            epidermolysis bullosa dystrophica 7
              autosomal dominant dystrophic epidermolysis bullosa 3
                epidermolysis bullosa with congenital localized absence of skin and deformity of nails 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              dermatitis 481
                bullous skin disease 165
                  vesiculobullous skin disease 152
                    epidermolysis bullosa 94
                      epidermolysis bullosa dystrophica 7
                        autosomal dominant dystrophic epidermolysis bullosa 3
                          epidermolysis bullosa with congenital localized absence of skin and deformity of nails 1
paths to the root