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Summary Literature (0)
DOID:2738 - pseudoxanthoma elasticum

Disease Ontology 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.

Synonyms: Gronblad-Strandberg syndrome,

Xenbase Genes : xylt1, enpp1, xylt2, abcc6

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009925 - autosomal recessive inherited pseudoxanthoma elasticum


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), connective tissue disease (is_a)