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Disease Ontology Browser
hereditary arterial and articular multiple calcification syndrome (DOID:0111582)
Alliance: disease page
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
Alt IDs: OMIM:211800, ORDO:289601
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory