OBO ID: DOID:0111582
Term Name: hereditary arterial and articular multiple calcification syndrome Search Ontology:
Synonyms:
  • arterial calcification and distal joint calcification
  • arterial calcification due to CD73 deficiency
  • arterial calcification due to deficiency of CD73:ACDC
  • 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 NT5E on chromosome 6q14.3. https://www.ncbi.nlm.nih.gov/pubmed/21288095
References:
Ontology: Human Disease   (DOID:0111582)
OTHER hereditary arterial and articular multiple calcification syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NT5E Calcification of joints and arteries 211800
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None