C128805Level 6
Generalized Arterial Calcification of Infancy 1
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications.
**Synonyms:** - GACI1
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