OBO ID: DOID:2738
Term Name: pseudoxanthoma elasticum Search Ontology:
Synonyms:
  • Gronblad-Strandberg syndrome
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. (3)
References:
  • GARD:9643
  • MESH:D011561
  • MIM:177850
  • MIM:264800
  • NCI:C85036
  • ORDO:758
  • SNOMEDCT_US_2023_03_01:7109007
  • UMLS_CUI:C0033847
Ontology: Human Disease   ( DOID:2738 )
Relationships
is a type of:
OTHER pseudoxanthoma elasticum PAGES
GENES INVOLVED No data available
PHENOTYPE No data available

CITATIONS (7)
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