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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;   DYSTROPHIC EPIDERMOLYSIS BULLOSA, NEONATAL;   TBDN;   dystrophic epidermolysis bullosa, dominant 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 OMIM:131705
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Transient bullous dermolysis of the newborn
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, dominant neonatal form
OMIM
ClinVar
PMID:8345225, PMID:8755915, PMID:9406826, PMID:9856844, PMID:10408773, PMID:10504458, PMID:11781296, PMID:12485454, PMID:12787275, PMID:15888141, PMID:16225626, PMID:16971478, PMID:17434045, PMID:19681861, PMID:20598510, PMID:22266148, PMID:23786535, PMID:24033266, PMID:24317394, PMID:25741868, 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 16058
    sensory system disease 5213
      skin disease 2758
        vesiculobullous skin disease 117
          epidermolysis bullosa 57
            epidermolysis bullosa dystrophica 5
              transient bullous dermolysis of the newborn 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
            vesiculobullous skin disease 117
              epidermolysis bullosa 57
                epidermolysis bullosa dystrophica 5
                  transient bullous dermolysis of the newborn 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.