Terminology Service for NFDI4Health

Pseudoxanthoma Elasticum

Go to external page http://purl.obolibrary.org/obo/NCIT_C85036


A rare, progressive, autosomal recessive inherited disorder caused by mutations in the ABCC6 gene. It is characterized by calcification and fragmentation of the elastic fibers of the skin, retina, and cardiovascular system. Signs and symptoms include skin plaques and bumps, thickened skin, retinal hemorrhage and obstruction of the blood vessels. [ ]

Term info

Label

Pseudoxanthoma Elasticum

Synonyms
  • Pseudoxanthoma Elasticum
Preferred Name

Pseudoxanthoma Elasticum

Semantic Type

Disease or Syndrome

UMLS CUI

C0033847

code

C85036