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Results 11 - 20 of 129 for Bone development disease
  1. X-linked myotubular myopathy 
    ... myotubular myopathy, muscle weakness often disrupts normal bone ... liver disease. Some affected individuals develop a serious liver condition ...
    https://medlineplus.gov/.../condition/x-linked-myotubular-myopathy - Genetics
  2. Osteopetrosis 
    Osteopetrosis is a bone disease that makes bone tissue abnormally compact and dense and also prone to breakage (fracture). Researchers have described several major ...
    https://medlineplus.gov/genetics/condition/osteopetrosis - Genetics
  3. Vitamin D-dependent rickets 
    Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the ... bones are too weak to bear weight. Impaired bone development also results in widening of the areas near ...
    https://medlineplus.gov/.../condition/vitamin-d-dependent-rickets - Genetics
  4. Osteogenesis imperfecta 
    ... forming cells. Mutations in these genes impair normal bone development, causing the bones to be brittle and to ... pass X-linked traits to their sons. Brittle bone disease Fragilitas ossium OI Vrolik disease Genetic Testing Registry: ...
    https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta - Genetics
  5. Achondrogenesis 
    ... group of severe disorders that affect cartilage and bone development. These conditions are characterized by skeletal abnormalities that ... collagen is essential for the normal growth and development of bones and other connective tissues. Variants in the COL2A1 ...
    https://medlineplus.gov/genetics/condition/achondrogenesis - Genetics
  6. Melorheostosis 
    Melorheostosis is a rare bone disease. It causes the abnormal growth of new bone tissue on the surface of existing bones. The new bone has a ... migration). RAS/MAPK signaling is critical for normal development, including the formation of bones.The MAP2K1 gene mutations that cause melorheostosis are ...
    https://medlineplus.gov/genetics/condition/melorheostosis - Genetics
  7. RAPADILINO syndrome 
    ... condition that involves many parts of the body. Bone development is especially affected, causing many of the characteristic ... experience diarrhea and vomiting. The combination of impaired bone development and feeding problems leads to slow growth and ...
    https://medlineplus.gov/genetics/condition/rapadilino-syndrome - Genetics
  8. Hereditary hypophosphatemic rickets 
    ... available in the bloodstream to participate in normal bone development and maintenance.The genes associated with hereditary hypophosphatemic ... hypophosphatemic rickets Genetic Testing Registry: Autosomal recessive ... Genetic Testing Registry: Familial X-linked hypophosphatemic vitamin ...
    https://medlineplus.gov/.../hereditary-hypophosphatemic-rickets - Genetics
  9. Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 
    ... dementia Lower motor neuron degeneration with Paget-like bone disease Multisystem proteinopathy Muscular dystrophy, limb-girdle, with Paget disease of bone Pagetoid amyotrophic lateral sclerosis Pagetoid neuroskeletal syndrome Genetic ...
    https://medlineplus.gov/...paget-disease-and-frontotemporal-dementia - Genetics
  10. McCune-Albright syndrome 
    ... generation. Albright syndrome Albright's disease Albright's disease of bone Albright's syndrome Albright's syndrome with precocious ...
    https://medlineplus.gov/genetics/condition/mccune-albright-syndrome - Genetics
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