"Osteogenesis Imperfecta" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D010013
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| MeSH Number(s) |
C05.116.099.708.685 C16.320.737 C17.300.200.540
|
| Concept/Terms |
Lobstein's Disease- Lobstein's Disease
- Disease, Lobstein's
- Lobsteins Disease
- Osteogenesis Imperfecta, Type I
- Osteogenesis Imperfecta with Blue Sclerae
- Osteogenesis Imperfecta, Type 1
- Lobstein Disease
- Disease, Lobstein
- Osteogenesis Imperfecta Tarda
- Osteogenesis Imperfecta Tardas
|
Below are MeSH descriptors whose meaning is more general than "Osteogenesis Imperfecta".
Below are MeSH descriptors whose meaning is more specific than "Osteogenesis Imperfecta".
This graph shows the total number of publications written about "Osteogenesis Imperfecta" by people in this website by year, and whether "Osteogenesis Imperfecta" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2010 | 1 | 0 | 1 |
| 2016 | 0 | 1 | 1 |
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Below are the most recent publications written about "Osteogenesis Imperfecta" by people in Profiles.
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Andreeva TV, Tyazhelova TV, Rykalina VN, Gusev FE, Goltsov AY, Zolotareva OI, Aliseichik MP, Borodina TA, Grigorenko AP, Reshetov DA, Ginter EK, Amelina SS, Zinchenko RA, Rogaev EI. Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies. Sci Rep. 2016 05 24; 6:26440.
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Goddeau RP, Caplan LR, Alhazzani AA. Intraparenchymal hemorrhage in a patient with osteogenesis imperfecta and plasminogen activator inhibitor-1 deficiency. Arch Neurol. 2010 Feb; 67(2):236-8.
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Nwosu BU, Raygada M, Tsilou ET, Rennert OM, Stratakis CA. Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation. Ophthalmic Genet. 2005 Sep; 26(3):135-8.
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Saban J, Zussman MA, Havey R, Patwardhan AG, Schneider GB, King D. Heterozygous oim mice exhibit a mild form of osteogenesis imperfecta. Bone. 1996 Dec; 19(6):575-9.