Terms & Properties

Preferred Name:  Epidermolysis Bullosa Dystrophica, Autosomal Recessive

Definition:  An autosomal recessive allelic variant of epidermolysis bullosa dystrophica caused by mutation(s) in the COL7A1 gene, encoding collagen alpha-1(VII) chain.

Label:  Epidermolysis Bullosa Dystrophica, Autosomal Recessive

NCI Thesaurus Code:  C156446 (Search for linked caDSR metadata)   (search value sets)

NCI Metathesaurus Link:  C0079474  (see NCI Metathesaurus info)

Synonyms & Abbreviations: (see Synonym Details)

Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa

Epidermolysis Bullosa Dystrophica, Autosomal Recessive

RDEB

Recessive Dystrophic Epidermolysis Bullosa

External Source Codes: 

UMLS CUI

C0079474

Other Properties:

Name	Value (qualifiers indented underneath)
code	C156446
Contributing_Source	Cellosaurus
Semantic_Type	Disease or Syndrome

Additional Concept Data: 

Defined Fully by Roles: No

URL:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C156446