autosomal recessive disease osteopetrosis autosomal recessive osteopetrosis https://www.malacards.org/card/autosomal_recessive_osteopetrosis Orphanet:667 infantile malignant osteopetrosis UMLS:C4272578 osteopetrosis (disease), autosomal recessive OMIMPS:259700 SCTID:367489004 autosomal recessive malignant osteopetrosis autosomal recessive osteopetrosis NCIT:C129733 autosomal recessive osteopetrosis (disease) 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. MEDGEN:1385510 GARD:0015012 MONDO:0019026 OPTB hereditary optic neuropathy Autosomal recessive malignant osteopetrosis