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autosomal recessive osteopetrosis

Disease Summary
Associated Targets (9)
Tbio

6

Tclin

2

Tchem

1


Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0019026:  autosomal recessive osteopetrosis
NCIT:C129733: 
OMIMPS:259700: 
Orphanet:667: 
SCTID:367489004: