carbonic anhydrase II deficiency syndrome

(redirected from osteopetrosis with renal tubular acidosis)

car·bon·ic an·hy·drase II de·fi·cien·cy syn·drome

an inherited deficiency of carbonic anhydrase II that results in osteopetrosis and metabolic acidosis.
References in periodicals archive ?
Carbonic anhydrase II deficiency syndrome: Recessive osteopetrosis with renal tubular acidosis and cerebral calcification.
Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.