An autosomal recessive disease 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. (Human Disease Ontology, DOID_2738)
Similar Terms
Downloads & Tools
Genes
1 genes involed in the disease pseudoxanthoma elasticum from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.