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Descriptor English: Osteogenesis Imperfecta
Descriptor Spanish: Osteogénesis Imperfecta
Descriptor Portuguese: Osteogênese Imperfeita
Descriptor French: Ostéogenèse imparfaite
Entry term(s): Brittle Bone Disease
Disease, Lobstein
Disease, Lobstein's
Fragilitas Ossium
Lobstein Disease
Lobstein's Disease
Lobsteins Disease
Ossiums, Fragilitas
Osteogenesis Imperfecta Tarda
Osteogenesis Imperfecta Tardas
Osteogenesis Imperfecta with Blue Sclerae
Osteogenesis Imperfecta, Type 1
Osteogenesis Imperfecta, Type I
Tree number(s): C05.116.099.708.685
C16.320.737
C17.300.200.540
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D010013
Scope note: 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.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Related: Collagen Type I MeSH
Dentinogenesis Imperfecta MeSH
DeCS ID: 10192
Unique ID: D010013
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1966/01/01
Date of Entry: 1999/01/01
Revision Date: 2013/07/08
Osteogenesis Imperfecta - Preferred
Concept UI M0015534
Scope note 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.
Preferred term Osteogenesis Imperfecta
Entry term(s) Brittle Bone Disease
Fragilitas Ossium
Ossiums, Fragilitas
Lobstein's Disease - Narrower
Concept UI M0015533
Preferred term Lobstein's Disease
Entry term(s) Disease, Lobstein
Disease, Lobstein's
Lobstein Disease
Lobsteins Disease
Osteogenesis Imperfecta Tarda
Osteogenesis Imperfecta Tardas
Osteogenesis Imperfecta with Blue Sclerae
Osteogenesis Imperfecta, Type 1
Osteogenesis Imperfecta, Type I



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