Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications. The disease is MONDO_0009818 (autosomal recessive osteopetrosis 3). Also known as: Autosomal Recessive osteopetrosis, type 3, CA2 osteopetrosis (disease), Guibaud-Vainsel syndrome, OPTB3, autosomal recessive osteopetrosis 3 with renal tubular acidosis, autosomal recessive osteopetrosis type 3, carbonic anhydrase 2 deficiency, carbonic anhydrase II deficiency.