 Osteochondrodysplasias
"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
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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 |
|---|
| 2005 | 1 | 0 | 1 | | 2012 | 1 | 0 | 1 | | 2016 | 0 | 2 | 2 | | 2017 | 1 | 1 | 2 | | 2018 | 2 | 0 | 2 | | 2019 | 0 | 1 | 1 | | 2020 | 1 | 0 | 1 | | 2021 | 1 | 0 | 1 | | 2023 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Osteochondrodysplasias" by people in Profiles.
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Crenshaw MM, Meyers ML, Brown K, Slegesky V, Duis J, Elias ER, Saenz M, Shi W, Filmus J, Meeks NJL. Five siblings expand the spectrum of GPC6-related skeletal dysplasia. Am J Med Genet A. 2023 10; 191(10):2571-2577.
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Savarirayan R, Tunkel DE, Sterni LM, Bober MB, Cho TJ, Goldberg MJ, Hoover-Fong J, Irving M, Kamps SE, Mackenzie WG, Raggio C, Spencer SA, Bompadre V, White KK. Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia. Orphanet J Rare Dis. 2021 01 14; 16(1):31.
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White KK, Bober MB, Cho TJ, Goldberg MJ, Hoover-Fong J, Irving M, Kamps SE, Mackenzie WG, Raggio C, Spencer SA, Bompadre V, Savarirayan R. Best practice guidelines for management of spinal disorders in skeletal dysplasia. Orphanet J Rare Dis. 2020 06 24; 15(1):161.
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Catheline SE, Hoak D, Chang M, Ketz JP, Hilton MJ, Zuscik MJ, Jonason JH. Chondrocyte-Specific RUNX2 Overexpression Accelerates Post-traumatic Osteoarthritis Progression in Adult Mice. J Bone Miner Res. 2019 09; 34(9):1676-1689.
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Power BD, Walsh KP, Awan A, Waldron M, O'Grady MJ. Klippel-Feil syndrome as a novel feature of Schimke immunoosseous dysplasia. Am J Med Genet A. 2019 05; 179(5):862-863.
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Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaite ?, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J, Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP. DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency. Am J Hum Genet. 2018 12 06; 103(6):1038-1044.
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Tetreault A, Ramalingam W, Black J, Miller NH, Donaldson N. Osteosarcoma in an Adolescent with Kniest Dysplasia: A Case Report. JBJS Case Connect. 2018 Oct-Dec; 8(4):e78.
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Kemp JP, Morris JA, Medina-Gomez C, Forgetta V, Warrington NM, Youlten SE, Zheng J, Gregson CL, Grundberg E, Trajanoska K, Logan JG, Pollard AS, Sparkes PC, Ghirardello EJ, Allen R, Leitch VD, Butterfield NC, Komla-Ebri D, Adoum AT, Curry KF, White JK, Kussy F, Greenlaw KM, Xu C, Harvey NC, Cooper C, Adams DJ, Greenwood CMT, Maurano MT, Kaptoge S, Rivadeneira F, Tobias JH, Croucher PI, Ackert-Bicknell CL, Bassett JHD, Williams GR, Richards JB, Evans DM. Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis. Nat Genet. 2017 Oct; 49(10):1468-1475.
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White KK, Bompadre V, Goldberg MJ, Bober MB, Cho TJ, Hoover-Fong JE, Irving M, Mackenzie WG, Kamps SE, Raggio C, Redding GJ, Spencer SS, Savarirayan R, Theroux MC. Best practices in peri-operative management of patients with skeletal dysplasias. Am J Med Genet A. 2017 Oct; 173(10):2584-2595.
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Xu X, Li Z, Leng Y, Neu CP, Calve S. Knockdown of the pericellular matrix molecule perlecan lowers in situ cell and matrix stiffness in developing cartilage. Dev Biol. 2016 10 15; 418(2):242-7.
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