Term Name: | hereditary arterial and articular multiple calcification syndrome |
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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. |
Ontology: | Human Disease [DOID:0111582] ( DOID:0111582 ) |