hereditary arterial and articular multiple calcification syndrome

Summary

DOID:0111582 - hereditary arterial and articular multiple calcification syndrome

Disease Ontology 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.

Synonyms: arterial calcification and distal joint calcification, arterial calcification due to CD73 deficiency, arterial calcification due to deficiency of CD73, arterial calcification due to deficiency of CD73:ACDC, calcification of joints and arteries, CALJA

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: nt5e

MIM:

MIM:211800 - CALCIFICATION OF JOINTS AND ARTERIES; CALJA

MIM:211800 - CALCIFICATION OF JOINTS AND ARTERIES; CALJA

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), syndrome (is_a)