DISEASES

Disease-gene associations mined from literature

Human genes for autosomal recessive osteopetrosis 7

Autosomal recessive osteopetrosis 7 [DOID:0110946]

An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.

Synonyms:  autosomal recessive osteopetrosis 7,  DOID:0110946,  autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia,  autosomal recessive osteopetrosis type 7,  OPTB7 ...