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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, dominant neonatal form | ClinVar Annotator: match by term: Transient bullous dermolysis of the newborn OMIM
ClinVar
PMID:2653224 PMID:7695699 PMID:8037207 PMID:8218237 PMID:8755915 More... NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    sensory system disease 6409
      skin disease 3783
        Skin Abnormalities 1077
          epidermolysis bullosa 81
            epidermolysis bullosa dystrophica 5
              transient bullous dermolysis of the newborn 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        sensory system disease 6409
          skin disease 3783
            dermatitis 464
              bullous skin disease 151
                vesiculobullous skin disease 138
                  epidermolysis bullosa 81
                    epidermolysis bullosa dystrophica 5
                      transient bullous dermolysis of the newborn 1
paths to the root