Visualize Submit Comment
Metadata
ID DOID:2738
Name pseudoxanthoma elasticum
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.
http://en.wikipedia.org/wiki/Pseudoxanthoma_elasticum, http://ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/253/viewAbstract
Xrefs

GARD:9643

MESH:D011561

NCI:C85036

OMIM:177850

OMIM:264800

ORDO:758

SNOMEDCT_US_2023_03_01:7109007

UMLS_CUI:C0033847

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

Gronblad-Strandberg syndrome [EXACT]

Parent Relationships

is_a connective tissue disease

is_a autosomal recessive disease

Add an item to the term tracker