Search Ontology:
Human Disease

hereditary arterial and articular multiple calcification syndrome

Term ID
DOID:0111582
Synonyms
  • arterial calcification and distal joint calcification
  • arterial calcification due to CD73 deficiency
  • arterial calcification due to deficiency of CD73
  • calcification of joints and arteries
  • CALJA
Definition
A syndrome characterized by adult onset of calcification of arteries in the lower extremities and of the hand and foot capsule joints that has_material_basis_in homozygous or compound heterozygous mutation in the NT5E gene on chromosome 6q14.3. https://www.ncbi.nlm.nih.gov/pubmed/21288095
References
Ontology
Human Disease   ( DOID:0111582 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models