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. [ NCI ]

Synonyms:

Malignant Osteopetrosis

Autosomal Recessive Osteopetrosis

This is just here as a test because I lose it

Term information

Subsets

NCIT_C90259, NCIT_C165258, NCIT_C118467

ALT 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.
Contributing Source
  • Cellosaurus
  • NICHD
NCI META CUI
  • CL513023
Preferred Name
  • Autosomal Recessive Osteopetrosis
Semantic Type
  • Congenital Abnormality
code
  • C129733

Term relations

Subclass of: