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arterial calcification, generalized, of infancy, 1

^ http://purl.obolibrary.org/obo/MONDO_0008817


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

database cross reference
  • NCIT:C128805 (MONDO:equivalentTo)
  • OMIM:208000 (MONDO:equivalentTo)
abbreviation
GACI1 [ MONDO:Lexical OMIM:208000 ]

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.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C128805, https://omim.org/entry/208000

has exact synonym

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

has related synonym

Gaci, idiopathic infantile arterial calcification, GACI1, arteriopathy, occlusive infantile, coronary sclerosis, medial, of infancy, arterial calcification, idiopathic infantile

id

MONDO:0008817

Term relations