FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term pseudoxanthoma elasticum ID (Ontology) DOID:2738 (Human Disease)
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.
Also Known As "Gronblad-Strandberg syndrome"
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 Genes
 pseudoxanthoma elasticum       2
 for disease ribbon | pseudoxanthoma elasticum       2
 model of | pseudoxanthoma elasticum       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
musculoskeletal system disease   |
 |__connective tissue disease____|
                                 pseudoxanthoma elasticum  2 rec.
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Is a autosomal recessive disease
connective tissue disease
Part of
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Synonyms
  • "Gronblad-Strandberg syndrome" EXACT
Secondary IDs
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GARD:9643
MESH:D011561
MIM:177850
MIM:264800
NCI:C85036
ORDO:758
SNOMEDCT_US_2023_03_01:7109007
UMLS_CUI:C0033847