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Results 1 - 7 of 7 for Osteopetrosis autosomal dominant type 2
  1. Osteopetrosis is a bone disease that makes bone tissue abnormally compact and dense and also prone to ...
  2. ... CLCN7 gene have been identified in people with osteopetrosis. Mutations in this gene can cause several different forms of the disorder: autosomal recessive osteopetrosis (ARO), which is the most severe form; autosomal ...
  3. ... TCIRG1 gene have been identified in people with osteopetrosis. These mutations cause the most severe form of the disorder, autosomal recessive osteopetrosis (ARO).Many TCIRG1 gene mutations change how the ...
  4. ... become fully functional. MedlinePlus Genetics provides information about Osteopetrosis More About This Health Condition At least two ... also cause a bone disease called autosomal recessive osteopetrosis (ARO). This disorder appears in infancy and is ...
  5. ... people with EDA-ID have unusually dense bones (osteopetrosis) and swelling (lymphedema). This is sometimes referred to ... how variants in the IKBKG gene contribute to osteopetrosis and lymphedema in EDA-ID. More About This ...
  6. ... This Health Condition MedlinePlus Genetics provides information about Osteopetrosis More About This Health Condition Mutations in the ...
  7. ... in bone mineral density. These include autosomal dominant osteopetrosis type 1 and autosomal dominant osteosclerosis. In some ...