autosomal recessive osteopetrosis 2 (DOID:0110943)
Alliance: disease page
Synonyms: mild autosomal recessive form osteopetrosis; OPTB2; osteoclast-poor osteopetrosis
Alt IDs: OMIM:259710
Definition: An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14.