Disease association ontology term - MONDO:0019026 - autosomal recessive osteopetrosis
Term summary
- ID
- MONDO:0019026
- Name
- autosomal recessive osteopetrosis
- Ontology or CV name
- Disease association
- Definition
- 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.
