|
DOID:2738 - pseudoxanthoma elasticum
Disease Ontology Definition: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.
Synonyms: Gronblad-Strandberg syndrome,
Echinobase Genes : abcc6
MIM:177850 - pseudoxanthoma elasticum, forme fruste pseudoxanthoma elasticum, heterozygous, included |
MIM:264800 - pseudoxanthoma elasticum; pxe |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a)