autosomal recessive osteopetrosis 7 (DOID:0110946)
Alliance: disease page
Synonyms: autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia; autosomal recessive osteopetrosis type 7; OPTB7; osteoclast-poor osteopetrosis with hypogammaglobulinemia; osteopetrosis-hypogammaglobulinemia syndrome
Alt IDs: OMIM:612301, ICD10CM:Q78.2, ORDO:178389
Definition: An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.