autosomal recessive disease pseudoxanthoma elasticum 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. ORDO:758 GARD:9643 Xref MGI. OMIM mapping confirmed by DO. [SN]. NCI:C85036 OMIM:177850 disease_ontology OMIM:264800 SNOMEDCT_US_2020_03_01:7109007 DOID:2738 UMLS_CUI:C0033847 Gronblad-Strandberg syndrome MESH:D011561 connective tissue disease