Osteopetrosis with Renal Tubular Acidosis

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118438

C118438

A rare, autosomal recessive inherited disorder caused by mutation in the CA2 gene. It is characterized by osteopetrosis, renal tubular acidosis, and cerebral calcifications. It results in growth failure, mental retardation, and fractures.

Autosomal Recessive Osteopetrosis, Type 3

Guibaud-Vainsel Syndrome

Marble Brain Disease

Carbonic Anhydrase II Deficiency

OPTB3

Autosomal Recessive Osteopetrosis 3

Osteopetrosis with Renal Tubular Acidosis

Osteopetrosis with Renal Tubular Acidosis

C118438

Osteopetrosis with Renal Tubular Acidosis

Disease or Syndrome

C0345407

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543