Search on: OSTEOGENESIS IMPERFECTA 
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Descriptor English:   Osteogenesis Imperfecta 
Descriptor Spanish:   Osteogénesis Imperfecta 
Descriptor Portuguese:   Osteogênese Imperfeita 
Synonyms English:   Fragilitas Ossium
Lobstein Disease  
Tree Number:   C05.116.099.708.685
C16.320.737
C17.300.200.540
Definition English:   COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I. 
See Related English:   Collagen Type I
Dentinogenesis Imperfecta
 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
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
RA radiography RI radionuclide imaging
RT radiotherapy RH rehabilitation
SU surgery TH therapy
US ultrasonography UR urine
VE veterinary VI virology
Record Number:   10192 
Unique Identifier:   D010013 

Occurrence in VHL:
 

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