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DO Term : hereditary arterial and articular multiple calcification syndrome [DOID:0111582] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • OMIM:211800,
  • 211800,
  • CALJA,
  • calcification of joints and arteries,
  • GARD:10762,
  • arterial calcification due to deficiency of CD73,
  • arterial calcification due to CD73 deficiency,
  • arterial calcification and distal joint calcification,
  • ORDO:289601
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Disease

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents