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 ...