Term Name: autosomal recessive osteopetrosis 6
Synonyms: autosomal recessive osteopetrosis intermediate form, OPTB6
Definition: An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31.
Ontology: Human Disease [DOID:0110945]   ( DOID:0110945 )

Relationships
is a type of: autosomal recessive disease osteopetrosis