 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
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| Concept/Terms |
Schwartz-Jampel Syndrome- Schwartz-Jampel Syndrome
- Schwartz Jampel Syndrome
- Syndrome, Schwartz-Jampel
- SJA Syndrome
- SJA Syndromes
- Syndrome, SJA
- Syndromes, SJA
- Schwartz-Jampel Syndrome, Type 1
- Schwartz Jampel Syndrome, Type 1
- Schwartz-Jampel-Aberfeld Syndrome
- Syndrome, Schwartz-Jampel-Aberfeld
- Chondrodystrophic Myotonia
- Chondrodystrophic Myotonias
- Myotonia, Chondrodystrophic
- Myotonias, Chondrodystrophic
- Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities
Melnick-Needles Syndrome- Melnick-Needles Syndrome
- Melnick Needles Syndrome
- Syndrome, Melnick-Needles
- Osteodysplasty of Melnick and Needles
- Melnick-Needles Osteodysplasty
- Melnick Needles Osteodysplasty
- Osteodysplasty, Melnick-Needles
Multiple Epiphyseal Dysplasia- Multiple Epiphyseal Dysplasia
- Dysplasia, Multiple Epiphyseal
- Dysplasias, Multiple Epiphyseal
- Epiphyseal Dysplasia, Multiple
- Epiphyseal Dysplasias, Multiple
- Multiple Epiphyseal Dysplasias
Myotonic chondrodystrophy- Myotonic chondrodystrophy
- Myotonic chondrodystrophies
- chondrodystrophies, Myotonic
- chondrodystrophy, Myotonic
- Schwartz Jampel Aberfeld syndrome
- Spondylo-epimetaphyseal dysplasia with myotonia
- Spondylo epimetaphyseal dysplasia with myotonia
Spondyloepiphyseal Dysplasia- Spondyloepiphyseal Dysplasia
- Dysplasia, Spondyloepiphyseal
- Dysplasias, Spondyloepiphyseal
- Spondyloepiphyseal Dysplasias
Hyperostosis Corticalis Generalisata- Hyperostosis Corticalis Generalisata
- Hyperphosphatasemia Tarda
- Hyperphosphatasemia Tardas
- Van Buchem Disease
- Buchem Disease, Van
- Buchem Diseases, Van
- Disease, Van Buchem
- Diseases, Van Buchem
- Van Buchem Diseases
- Endosteal Hyperostosis, Autosomal Recessive
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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 UAMS Profiles 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 |
|---|
| 2021 | 1 | 0 | 1 | | 2019 | 1 | 0 | 1 | | 2018 | 1 | 1 | 2 | | 2017 | 1 | 0 | 1 | | 2015 | 1 | 0 | 1 | | 2008 | 1 | 0 | 1 | | 2006 | 0 | 1 | 1 | | 1989 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Osteochondrodysplasias" by people in Profiles over the past ten years.
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Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate YA, Hanc?rov? M, Amor DJ, Bebin EM, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper GM, Courtin T, Dadali E, Delafontaine J, Del Giudice E, Doco M, Douglas G, Eisenk?lbl A, Funari T, Giannuzzi G, Gruber-Sedlmayr U, Guex N, Heron D, Holla ?L, Hurst ACE, Juusola J, Kronn D, Lavrov A, Lee C, Lorrain S, Merckoll E, Mikhaleva A, Norman J, Pradervand S, Prchalov? D, Rhodes L, Sanders VR, Sedl?cek Z, Seebacher HA, Sellars EA, Sirchia F, Takenouchi T, Tanaka AJ, Taska-Tench H, T?nne E, Tveten K, Vitiello G, Vlckov? M, Uehara T, Nava C, Yalcin B, Kosaki K, Donnai D, Mundlos S, Brunetti-Pierri N, Chung WK, Reymond A. 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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Zarate YA, Bosanko KA, Gripp KW. Using facial analysis technology in a typical genetic clinic: experience from 30 individuals from a single institution. J Hum Genet. 2019 12; 64(12):1243-1245.
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Costantini A, Valta H, Baratang NV, Yap P, Bertola DR, Yamamoto GL, Kim CA, Chen J, Wierenga KJ, Fanning EA, Escobar L, McWalter K, McLaughlin H, Willaert R, Begtrup A, Alm JJ, Reinhardt DP, M?kitie O, Campeau PM. Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures". Bone. 2019 04; 121:163-171.
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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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Tan QK, Cope H, Spillmann RC, Stong N, Jiang YH, McDonald MT, Rothman JA, Butler MW, Frush DP, Lachman RS, Lee B, Bacino CA, Bonner MJ, McCall CM, Pendse AA, Walley N, Shashi V, Pena LDM. Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features. Cold Spring Harb Mol Case Stud. 2018 10; 4(5).
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Samanta D, Ramakrishnaiah R. Diffuse Carotid Arteriosclerosis and Stroke in a Patient With Schimke Immuno-osseous Dysplasia. Pediatr Neurol. 2017 Jun; 71:82-83.
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Agarwal A, Klair J, Joiner A, Meena NK. Nodular trachea: tracheobronchopathia osteochondroplastica. BMJ Case Rep. 2015 Jun 25; 2015.
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