Search on: PYCNODYSOSTOSIS 
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Descriptor English:   Pycnodysostosis 
Descriptor Spanish:   Picnodisostosis 
Descriptor Portuguese:   Picnodisostose 
Synonyms English:   Pycnodysostoses
Pyknodysostoses
Pyknodysostosis  
Tree Number:   C05.116.099.708.779
C16.320.565.595.800
C16.320.812
C18.452.648.595.800
Definition English:   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 English:   2011 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   53947 
Unique Identifier:   D058631 

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