arterial calcification, generalized, of infancy, 1
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.
MONDO:0018870
arterial calcification of infancy
is_a
ENPP1 arterial calcification of infancy
exact
GACI1
related
arterial calcification of infancy caused by mutation in ENPP1
exact
arterial calcification, generalized, of infancy, 1
exact
arterial calcification, generalized, of infancy, type 1
exact
generalised arterial calcification of infancy 1
exact
generalized arterial calcification of infancy 1
exact