Disease

hereditary arterial and articular multiple calcification syndrome

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

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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