"Osteochondrodysplasias" 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.
Abnormal development of cartilage and bone.
| Descriptor ID |
D010009
|
| MeSH Number(s) |
C05.116.099.708 C16.320.728
|
| Concept/Terms |
Melnick-Needles Syndrome- Melnick-Needles Syndrome
- Melnick Needles Syndrome
- Osteodysplasty of Melnick and Needles
- Melnick-Needles Osteodysplasty
- Melnick Needles Osteodysplasty
- Osteodysplasty, Melnick-Needles
Myotonic Chondrodystrophy- Myotonic Chondrodystrophy
- Chondrodystrophy, Myotonic
- Schwartz Jampel Aberfeld syndrome
- Schwartz-Jampel Syndrome, Type 1
- Schwartz Jampel Syndrome, Type 1
- Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities
- Spondylo-Epimetaphyseal Dysplasia With Myotonia
- Chondrodystrophic Myotonia
- Myotonia, Chondrodystrophic
- SJA Syndrome
- Schwartz-Jampel Syndrome
- Schwartz Jampel Syndrome
- Schwartz-Jampel-Aberfeld Syndrome
- Syndrome, Schwartz-Jampel-Aberfeld
Spondyloepiphyseal Dysplasia Tarda, X-Linked- Spondyloepiphyseal Dysplasia Tarda, X-Linked
- Spondyloepiphyseal Dysplasia Tarda, X Linked
- X-Linked Spondyloepiphyseal Dysplasia Tarda
- X Linked Spondyloepiphyseal Dysplasia Tarda
- X-Linked SEDT
- SEDT, X-Linked
- X Linked SEDT
- SED Tarda
- X-Linked SED
- SED, X-Linked
- X Linked SED
- Spondyloepiphyseal Dysplasia, Late
- Late Spondyloepiphyseal Dysplasia
- Late-Onset Spondyloepiphyseal Dysplasia
- Late Onset Spondyloepiphyseal Dysplasia
- Spondyloepiphyseal Dysplasia, Late-Onset
Hyperostosis Corticalis Generalisata- Hyperostosis Corticalis Generalisata
- Sost Sclerosing Bone Dysplasia
- Van Buchem Disease
- Sost-Related Sclerosing Bone Dysplasia
- Endosteal Hyperostosis, Autosomal Recessive
- Hyperphosphatasemia Tarda
|
Below are MeSH descriptors whose meaning is more general than "Osteochondrodysplasias".
Below are MeSH descriptors whose meaning is more specific than "Osteochondrodysplasias".
This graph shows the total number of publications written about "Osteochondrodysplasias" by people in this website by year, and whether "Osteochondrodysplasias" 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 |
|---|
| 1996 | 1 | 0 | 1 |
| 2000 | 1 | 1 | 2 |
| 2001 | 1 | 0 | 1 |
| 2002 | 1 | 0 | 1 |
| 2005 | 3 | 1 | 4 |
| 2006 | 1 | 1 | 2 |
| 2008 | 1 | 0 | 1 |
| 2009 | 1 | 0 | 1 |
| 2010 | 1 | 1 | 2 |
| 2012 | 3 | 0 | 3 |
| 2013 | 1 | 0 | 1 |
| 2014 | 1 | 0 | 1 |
| 2015 | 1 | 0 | 1 |
| 2016 | 2 | 0 | 2 |
| 2017 | 2 | 0 | 2 |
| 2018 | 1 | 1 | 2 |
| 2019 | 1 | 0 | 1 |
| 2020 | 1 | 2 | 3 |
| 2021 | 2 | 0 | 2 |
| 2022 | 0 | 1 | 1 |
| 2023 | 3 | 0 | 3 |
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click here.
Below are the most recent publications written about "Osteochondrodysplasias" by people in Profiles.
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Using MRI-derived observed-to-expected total fetal lung volume to predict lethality in fetal skeletal dysplasia. Pediatr Radiol. 2024 01; 54(1):43-48.
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Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome. Eye (Lond). 2023 12; 37(18):3734-3742.
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Blocking COX unlocks response in GHDD. Blood. 2023 03 30; 141(13):1497-1498.
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DDRGK1 is required for the proper development and maintenance of the growth plate cartilage. Hum Mol Genet. 2022 08 23; 31(16):2820-2830.
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Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. Am J Hum Genet. 2021 05 06; 108(5):857-873.
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Magnetic resonance imaging diagnosis of a skeletal dysplasia mimicking erosive arthropathy. Pediatr Radiol. 2021 Aug; 51(9):1758-1761.
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Deciphering the Role of Filamin B Calponin-Homology Domain in Causing the Larsen Syndrome, Boomerang Dysplasia, and Atelosteogenesis Type I Spectrum Disorders via a Computational Approach. Molecules. 2020 Nov 26; 25(23).
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An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs. Hum Mol Genet. 2020 08 03; 29(13):2250-2260.
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Kenny-Caffey Syndrome Type 2: A Unique Presentation and Craniofacial Analysis. J Craniofac Surg. 2020 Jul-Aug; 31(5):e471-e475.
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Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 03 07; 104(3):422-438.