"Pycnodysostosis" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D058631
|
| MeSH Number(s) |
C05.116.099.708.779 C16.320.565.595.800 C16.320.812 C18.452.648.595.800
|
| Concept/Terms |
Pycnodysostosis- Pycnodysostosis
- Pycnodysostoses
- Pyknodysostosis
- Pyknodysostoses
|
Below are MeSH descriptors whose meaning is more general than "Pycnodysostosis".
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