"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
|
| 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 |
|---|
| 2006 | 1 | 0 | 1 |
| 2021 | 1 | 0 | 1 |
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Below are the most recent publications written about "Osteogenesis Imperfecta" by people in Profiles.
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Novel compound heterozygous variants in the NBAS gene in a child with osteogenesis imperfecta and recurrent acute liver failure. BMJ Case Rep. 2021 Feb 04; 14(2).
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Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N Engl J Med. 2006 Dec 28; 355(26):2757-64.
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[Hip algodystrophy with bascule in Lobstein's disease]. Rev Rhum Mal Osteoartic. 1991 Oct; 58(9):640-2.