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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;   RDO:0001344
 xref: GARD:2139
For additional species annotation, visit the Alliance of Genome Resources.


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
ClinVar Annotator: match by OMIM:131750
OMIM
ClinVar
PMID:1680286, PMID:2653224, PMID:7577595, PMID:7861014, PMID:8170945, PMID:8288900, PMID:8755915, PMID:9347800, PMID:9668111, PMID:9856844, PMID:9892921, PMID:10084325, PMID:10408773, PMID:10469344, PMID:11781296, PMID:11874498, PMID:12485454, PMID:12787275, PMID:15888141, PMID:16557343, PMID:16965329, PMID:16971478, PMID:19681861, PMID:20598510, PMID:22266148, PMID:24033266, PMID:24794830, PMID:25741868, PMID:28492532, PMID:28830826, PMID:30311386, PMID:32860008 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:7520042, PMID:8807337, PMID:25741868, PMID:30311386 NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
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 ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE OMIM
ClinVar
PMID:3771648, PMID:5910871, PMID:8618021, PMID:8755915, PMID:10408773, PMID:11781296, PMID:11843659, PMID:12485454, PMID:12787275, PMID:15888141, PMID:16971478, PMID:19026465, PMID:19681861, PMID:20507384, PMID:20598510, PMID:22266148, PMID:24033266, PMID:25741868, PMID:26064063, PMID:28492532, PMID:30311386 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      musculoskeletal system disease 5737
        connective tissue disease 4096
          collagen disease 307
            epidermolysis bullosa dystrophica 5
              autosomal dominant dystrophic epidermolysis bullosa 2
                epidermolysis bullosa with congenital localized absence of skin and deformity of nails 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            Skin Abnormalities 658
              epidermolysis bullosa 57
                epidermolysis bullosa dystrophica 5
                  autosomal dominant dystrophic epidermolysis bullosa 2
                    epidermolysis bullosa with congenital localized absence of skin and deformity of nails 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.