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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 dystrophic epidermolysis bullosa
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Accession:DOID:0080988 term browser browse the term
Definition:An epidermolysis bullosa dystrophica that is characterized by recurrent blistering and scarring, mainly in the pretibial area and that has_material_basis_in heterozygous or compound heterozygous mutation in the type VII collagen gene (COL7A1) on chromosome 3p21. The lesions often show lichenoid features. Pretibial epidermolysis bullosa is allelic to autosomal dominant and recessive dystrophic epidermolysis bullosa. (DO)
Synonyms:exact_synonym: Epidermolysis Bullosa Dystrophica, Pretibial;   Pretibial Epidermolysis Bullosa;   pretibial DEB
 narrow_synonym: pretibial epidermolysis bullosa, autosomal recessive
 primary_id: MESH:C535494
 alt_id: DOID:9001453;   OMIM:131850
 xref: GARD:2155;   ORDO:79410


show annotations for term's descendants           Sort by:
pretibial 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epidermolysis bullosa, pretibial, autosomal recessive | ClinVar Annotator: match by term: Pretibial dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: Pretibial epidermolysis bullosa		 OMIM
CTD
ClinVar		 PMID:7695699 PMID:7833933 PMID:7861014 PMID:8088783 PMID:8218237 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 21126
    sensory system disease 6948
      skin disease 3966
        Skin Abnormalities 1296
          epidermolysis bullosa 94
            epidermolysis bullosa dystrophica 7
              pretibial dystrophic epidermolysis bullosa 1
Path 2
Term Annotations click to browse term
  disease 21126
    Pathological Conditions, Signs and Symptoms 13335
      Signs and Symptoms 10811
        Neurologic Manifestations 10043
          sensory system disease 6948
            skin disease 3966
              dermatitis 483
                bullous skin disease 166
                  vesiculobullous skin disease 153
                    epidermolysis bullosa 94
                      epidermolysis bullosa dystrophica 7
                        pretibial dystrophic epidermolysis bullosa 1
paths to the root