Human genes for autosomal recessive osteopetrosis 6
Autosomal recessive osteopetrosis 6 [DOID:0110945]
An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31.
Synonyms: autosomal recessive osteopetrosis 6, DOID:0110945, autosomal recessive osteopetrosis intermediate form, OPTB6, autosomal recessive osteopetrosis intermediate forms