"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
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MeSH Number(s) |
C05.116.099.708 C16.320.728
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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 |
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2004 | 1 | 0 | 1 |
2011 | 1 | 1 | 2 |
2012 | 1 | 0 | 1 |
2013 | 2 | 0 | 2 |
2014 | 0 | 1 | 1 |
2015 | 1 | 0 | 1 |
2016 | 1 | 0 | 1 |
2017 | 1 | 0 | 1 |
2019 | 1 | 0 | 1 |
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Below are the most recent publications written about "Osteochondrodysplasias" by people in Profiles.
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Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia. Bone. 2019 10; 127:446-451.
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Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2. Am J Med Genet A. 2017 Apr; 173(4):1102-1108.
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Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. Am J Hum Genet. 2016 08 04; 99(2):392-406.
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A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A. 2015 Mar; 167A(3):461-75.
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CDKN1C mutations: two sides of the same coin. Trends Mol Med. 2014 Nov; 20(11):614-22.
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COL2A1 mutation as a cause of premature osteoarthritis in a 13-year-old child. Joint Bone Spine. 2014 Jan; 81(1):83-5.
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Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9. Am J Med Genet A. 2013 Feb; 161A(2):295-300.
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Mutation-based growth charts for SEDC and other COL2A1 related dysplasias. Am J Med Genet C Semin Med Genet. 2012 Aug 15; 160C(3):205-16.
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Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene. Clin Genet. 2012 Aug; 82(2):140-6.
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Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. Science. 2011 Apr 08; 332(6026):238-40.