FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term hereditary arterial and articular multiple calcification syndrome ID (Ontology) DOID:0111582 (Human Disease)
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.
Also Known As "arterial calcification and distal joint calcification" ; "arterial calcification due to CD73 deficiency" ; "arterial calcification due to deficiency of CD73" (for all, see Synonyms field below)
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 Genes
 hereditary arterial and articular multiple calcification syndrome       5
 for disease ribbon | hereditary arterial and articular multiple calcification syndrome       5
 model of | hereditary arterial and articular multiple calcification syndrome       5
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 hereditary arterial and articular multiple calcification syndrome  5 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "arterial calcification and distal joint calcification" EXACT
    "arterial calcification due to CD73 deficiency" EXACT
    "arterial calcification due to deficiency of CD73" EXACT
    "calcification of joints and arteries" EXACT
    "CALJA" EXACT OMO:0003012
Secondary IDs
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GARD:10762
MIM:211800
ORDO:289601