Human genes for autosomal recessive osteopetrosis 2
Autosomal recessive osteopetrosis 2 [DOID:0110943]
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14.
Synonyms: autosomal recessive osteopetrosis 2, DOID:0110943, mild autosomal recessive form osteopetrosis, OPTB2, osteoclast-poor osteopetrosis ...