autosomal recessive disease autosomal recessive osteopetrosis 4 OPTB4 GARD:5993 disease_ontology An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13. infantile malignant osteopetrosis 2 OMIM:611490 DOID:0110944 osteopetrosis