Human genes for autosomal recessive osteopetrosis 3
Autosomal recessive osteopetrosis 3 [DOID:0110941]
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21.
Synonyms: autosomal recessive osteopetrosis 3, DOID:0110941, autosomal recessive osteopetrosis 3 with renal tubular acidosis, carbonic anhydrase II deficiency, Guibaud-Vainsel syndrome ...