"Osteopetrosis" 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.
Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and extramedullary hemopoiesis (HEMATOPOIESIS, EXTRAMEDULLARY).
| Descriptor ID |
D010022
|
| MeSH Number(s) |
C05.116.099.708.702.678
|
| Concept/Terms |
Osteopetrosis- Osteopetrosis
- Osteopetroses
- Albers-Schonberg Disease
- Albers Schonberg Disease
- Disease, Albers-Schonberg
- Osteosclerosis Fragilis Generalisata
- Osteosclerosis Fragilis Generalisatas
- Marble Bone Disease
- Disease, Marble Bone
- Osteosclerosis Fragilis
- Albers-Schoenberg Disease
- Albers Schoenberg Disease
- Disease, Albers-Schoenberg
- Albers-Schönberg Disease
- Albers Schönberg Disease
- Disease, Albers-Schönberg
Osteopetrosis Autosomal Dominant Type 2- Osteopetrosis Autosomal Dominant Type 2
- Osteopetrosis, Autosomal Dominant, Type II
- Marble Bones, Autosomal Dominant
- Osteopetrosis, Autosomal Dominant 2
- Albers-Schonberg Disease, Autosomal Dominant
- Albers Schonberg Disease, Autosomal Dominant
- Autosomal Dominant Osteopetrosis Type 2
|
Below are MeSH descriptors whose meaning is more general than "Osteopetrosis".
Below are MeSH descriptors whose meaning is more specific than "Osteopetrosis".
This graph shows the total number of publications written about "Osteopetrosis" by people in this website by year, and whether "Osteopetrosis" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1998 | 1 | 0 | 1 |
| 2001 | 1 | 0 | 1 |
| 2012 | 1 | 0 | 1 |
| 2013 | 0 | 1 | 1 |
| 2015 | 2 | 0 | 2 |
| 2017 | 1 | 0 | 1 |
To return to the timeline,
click here.
Below are the most recent publications written about "Osteopetrosis" by people in Profiles.
-
Homozygous deletion of RAG1, RAG2 and 5' region TRAF6 causes severe immune suppression and atypical osteopetrosis. Clin Genet. 2017 Jun; 91(6):902-907.
-
IMAGES IN CLINICAL MEDICINE. Osteopetrosis and Erlenmeyer-Flask Deformity. N Engl J Med. 2015 Sep 03; 373(10):e12.
-
Osteopetrorickets due to Snx10 deficiency in mice results from both failed osteoclast activity and loss of gastric acid-dependent calcium absorption. PLoS Genet. 2015 Mar; 11(3):e1005057.
-
Next-generation sequencing for disorders of low and high bone mineral density. Osteoporos Int. 2013 Aug; 24(8):2253-9.
-
Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. Hum Mol Genet. 2012 Nov 15; 21(22):4904-9.
-
Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation. J Clin Endocrinol Metab. 2007 Mar; 92(3):771-8.
-
Radiography of successful bone marrow transplantation for osteopetrosis. Skeletal Radiol. 2007 Jun; 36 Suppl 1:S34-7.
-
Analysis of variation in expression of autosomal dominant osteopetrosis type 2: searching for modifier genes. Bone. 2005 Nov; 37(5):655-61.
-
Osteoclast-derived serum tartrate-resistant acid phosphatase 5b in Albers-Schonberg disease (type II autosomal dominant osteopetrosis). Clin Chem. 2004 May; 50(5):883-90.
-
Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II. J Bone Miner Res. 2003 Aug; 18(8):1513-8.