Search on: OSTEOGENESIS IMPERFECTA 
Descriptors Found: 1
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Descriptor English:   Osteogenesis Imperfecta 
Descriptor Spanish:   Osteogénesis Imperfecta 
Descriptor Portuguese:   Osteogênese Imperfeita 
Synonyms English:   Brittle Bone Disease
Lobstein's Disease
Osteogenesis Imperfecta Tarda
Osteogenesis Imperfecta with Blue Sclerae
Osteogenesis Imperfecta, Type 1
Osteogenesis Imperfecta, Type I
Disease, Lobstein
Disease, Lobstein's
Lobsteins Disease
Ossiums, Fragilitas
Osteogenesis Imperfecta Tardas
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
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:   10192 
Unique Identifier:   D010013 

Occurrence in VHL:
 
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