autosomal recessive osteopetrosis 4 (DOID:0110944)
Alliance: disease page
Synonyms: infantile malignant osteopetrosis 2; OPTB4
Alt IDs: OMIM:611490
Definition: An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13.