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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Osteochondrodysplasias > Pycnodysostosis
Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Developmental > Osteochondrodysplasias > Pycnodysostosis
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Pycnodysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Pycnodysostosis

Preferred term

Pycnodysostosis  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Pyknodysostoses
  • Pyknodysostosis

Scope note

  • Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. It is associated with BONE RESORPTION defect due to mutations in the lysosomal cysteine protease CATHEPSIN K.

History note

  • 2011

In other languages

  • osteopetroosi

    Finnish

  • Albers
  • Albers-Schönberg
  • Albers-Schönbergin oireyhtymä
  • Albers-Schönbergin syndrooma
  • Albers-Schönbergin tauti
  • dysosteosclerosis
  • dysosteoskleroosi
  • luun kovettuminen
  • luun kovettumissairaus
  • luun kovettumistauti
  • marmorisairaus
  • marmoritauti
  • morbus Albers-Schönberg
  • osteopetrosis
  • pycnodysostosis
  • pyknodysostoosi
  • Schönberg
  • syndroma Albers-Schönberg
  • Pycnodysostos

    Swedish

URI

http://www.yso.fi/onto/mesh/D058631

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