DISEASES

Disease-gene associations mined from literature

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,  OPTB2,  mild autosomal recessive form osteopetrosis,  osteoclast-poor osteopetrosis ...