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arterial calcification, generalized, of infancy, 2
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any arterial calcification of infancy in which the cause of the disease is a mutation in the ABCC6 gene.
Uniprot Description A severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. The disorder is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure.
Mondo Term and Equivalent IDs
MONDO:0013768: arterial calcification, generalized, of infancy, 2