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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:Pretibial Epidermolysis Bullosa
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Accession:DOID:9001453 term browser browse the term
Synonyms:exact_synonym: Dystrophic Epidermolysis Bullosa, Pretibial;   Epidermolysis Bullosa Dystrophica, Pretibial;   pretibial DEB
 narrow_synonym: pretibial epidermolysis bullosa, autosomal recessive
 primary_id: MESH:C535494
 alt_id: OMIM:131850
For additional species annotation, visit the Alliance of Genome Resources.


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Pretibial 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 OMIM:131850
ClinVar Annotator: match by term: Epidermolysis bullosa, pretibial, autosomal recessive
ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA, PRETIBIAL
ClinVar Annotator: match by term: Pretibial epidermolysis bullosa
OMIM
ClinVar
PMID:7861014, PMID:8541842, PMID:8755915, PMID:9215684, PMID:9892921, PMID:10408773, PMID:10583163, PMID:11781296, PMID:12485454, PMID:12787275, PMID:15888141, PMID:16971478, PMID:19681861, PMID:20598510, PMID:22266148, PMID:24033266, PMID:24794830, PMID:25741868, PMID:28492532, PMID:28830826, 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 16058
    disease of anatomical entity 15305
      musculoskeletal system disease 5739
        connective tissue disease 4099
          collagen disease 307
            epidermolysis bullosa dystrophica 5
              Pretibial Epidermolysis Bullosa 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            Skin Abnormalities 658
              epidermolysis bullosa 57
                epidermolysis bullosa dystrophica 5
                  Pretibial Epidermolysis Bullosa 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.