OBO ID: DOID:2738
Term Name: pseudoxanthoma elasticum Search Ontology:
Synonyms:
  • Gronblad-Strandberg syndrome
Definition: A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system. (3)
References:
Ontology: Human Disease   (DOID:2738)
OTHER pseudoxanthoma elasticum PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ABCC6 Pseudoxanthoma elasticum, forme fruste 177850
Pseudoxanthoma elasticum 264800
XYLT1 {Pseudoxanthoma elasticum, modifier of severity of} 264800
XYLT2 {Pseudoxanthoma elasticum, modifier of severity of} 264800
PHENOTYPE No data available

CITATIONS (5)