Term Name:	autosomal recessive osteopetrosis 3
Synonyms:	autosomal recessive osteopetrosis 3 with renal tubular acidosis, carbonic anhydrase II deficiency, Guibaud-Vainsel syndrome, marble brain disease, OPTB3, osteopetrosis with renal tubular acidosis
Definition:	An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21.
Ontology:	Human Disease [DOID:0110941]   ( DOID:0110941 )