autosomal recessive osteopetrosis 6 (DOID:0110945)
Alliance: disease page
Synonyms: autosomal recessive osteopetrosis intermediate form; OPTB6
Alt IDs: OMIM:611497
Definition: An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31.