MeSH Browser

MeSH Heading: Pycnodysostosis
Tree Number(s): C05.116.099.708.779; C16.320.565.595.800; C16.320.812; C18.452.648.595.800
Unique ID: D058631
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D058631
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.
Entry Term(s): Pyknodysostosis
Previous Indexing: Dysostoses (1966-2010)
Public MeSH Note: 2011
History Note: 2011
Date Established: 2011/01/01
Date of Entry: 2010/06/25
Revision Date: 2012/07/03

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Pycnodysostosis MeSH Descriptor Data 2024