Autosomal recessive osteopetrosis 3
Autosomal recessive osteopetrosis 3
Definition
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, Autosomal Recessive osteopetrosis, type 3, CA2 osteopetrosis (disease), carbonic anhydrase 2 deficiency, carbonic anhydrase II deficiency, Guibaud-Vainsel syndrome, marble brain disease, mixed renal tubular acidosis, mixed RTA, OPTB3, osteopetrosis (disease) caused by mutation in CA2, osteopetrosis with renal tubular acidosis, osteopetrosis, autosomal recessive 3, with renal tubular acidosis, osteopetrosis, autosomal recessive type 3, renal tubular acidosis type 3 — per MONDO