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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:transient bullous dermolysis of the newborn
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Accession:DOID:0111345 term browser browse the term
Definition:An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31. (DO)
Synonyms:exact_synonym: DEB, bullous dermolysis of the newborn;   DEB-BDN;   TBDN;   dystrophic epidermolysis bullosa, dominant neonatal;   dystrophic epidermolysis bullosa, neonatal;   epidermolysis bullosa dystrophica, dominant neonatal form;   epidermolysis bullosa dystrophica, neonatal form
 primary_id: MESH:C536979
 alt_id: OMIM:131705
 xref: GARD:10010;   ORDO:79411


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transient bullous dermolysis of the newborn 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, NEONATAL FORM | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, dominant neonatal form | ClinVar Annotator: match by term: Transient bullous dermolysis of the newborn		 OMIM
CTD
ClinVar		 PMID:2653224 PMID:7695699 PMID:7833933 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 21128
    disease of anatomical entity 18212
      Skin and Connective Tissue Diseases 7431
        connective tissue disease 5757
          collagen disease 482
            epidermolysis bullosa dystrophica 7
              transient bullous dermolysis of the newborn 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        Neurologic Manifestations 10040
          sensory system disease 6939
            skin disease 3960
              dermatitis 481
                bullous skin disease 165
                  vesiculobullous skin disease 152
                    epidermolysis bullosa 94
                      epidermolysis bullosa dystrophica 7
                        transient bullous dermolysis of the newborn 1
paths to the root