has modifier Autosomal recessive inheritance autosomal recessive disease osteopetrosis (disease) autosomal recessive osteopetrosis An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration. ICD10:Q78.2 MONDO:0019026 NCIT:C129733 OMIMPS:259700 OPTB Orphanet:667 SCTID:367489004 autosomal recessive malignant osteopetrosis autosomal recessive osteopetrosis autosomal recessive osteopetrosis (disease) infantile malignant osteopetrosis malignant osteopetrosis osteopetrosis (disease), autosomal recessive hereditary optic neuropathy