Visualize Submit Comment
Metadata
ID DOID:0111582
Name hereditary arterial and articular multiple calcification syndrome
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
Xrefs

GARD:10762

OMIM:211800

ORDO:289601

Synonyms

arterial calcification and distal joint calcification [EXACT]

arterial calcification due to CD73 deficiency [EXACT]

arterial calcification due to deficiency of CD73:ACDC [EXACT]

calcification of joints and arteries [EXACT]

CALJA [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

Add an item to the term tracker