/autosomal recessive osteopetrosis 3

autosomal recessive osteopetrosis 3

Rare Disease

MONDO:0009818

Also Known As

Autosomal Recessive osteopetrosis, type 3CA2 osteopetrosis (disease)Guibaud-Vainsel syndromeOPTB3autosomal recessive osteopetrosis 3 with renal tubular acidosisautosomal recessive osteopetrosis type 3carbonic anhydrase 2 deficiencycarbonic anhydrase II deficiencymarble brain diseasemixed RTAmixed renal tubular acidosisosteopetrosis (disease) caused by mutation in CA2osteopetrosis with renal tubular acidosisosteopetrosis, autosomal recessive 3, with renal tubular acidosisosteopetrosis, autosomal recessive type 3renal tubular acidosis type 3Guibaud Vainsel syndromeosteopetrosis autosomal recessive 3osteopetrosis, autosomal recessive 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.