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. [ NCIT:C128805 ]
Term info
- NCIT:C128805 (MONDO:equivalentTo)
- OMIM:208000 (MONDO:equivalentTo)
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.
http://purl.obolibrary.org/obo/NCIT_C128805, https://omim.org/entry/208000
arterial calcification, generalized, of infancy, 1, ENPP1 arterial calcification of infancy, arterial calcification, generalized, of infancy, type 1, arterial calcification of infancy caused by mutation in ENPP1, generalized arterial calcification of infancy 1
Gaci, idiopathic infantile arterial calcification, GACI1, arteriopathy, occlusive infantile, coronary sclerosis, medial, of infancy, arterial calcification, idiopathic infantile
MONDO:0008817