Autosomal recessive osteopetrosis 3

MONDO:0009818

Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.

Also known as: Autosomal Recessive osteopetrosis, type 3, CA2 osteopetrosis (disease), Guibaud-Vainsel syndrome, OPTB3, autosomal recessive osteopetrosis type 3, carbonic anhydrase 2 deficiency, carbonic anhydrase II deficiency, marble brain disease

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