 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 |
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
Spondyloepiphyseal Dysplasia- Spondyloepiphyseal Dysplasia
- Dysplasia, Spondyloepiphyseal
- Dysplasias, Spondyloepiphyseal
- Spondyloepiphyseal Dysplasias
Myotonic chondrodystrophy- Myotonic chondrodystrophy
- Spondylo-epimetaphyseal dysplasia with myotonia
- Schwartz Jampel Aberfeld syndrome
Multiple Epiphyseal Dysplasia- Multiple Epiphyseal Dysplasia
- Dysplasia, Multiple Epiphyseal
- Dysplasias, Multiple Epiphyseal
- Epiphyseal Dysplasia, Multiple
- Epiphyseal Dysplasias, Multiple
- Multiple Epiphyseal Dysplasias
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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 Harvard Catalyst Profiles by year, and whether "Osteochondrodysplasias" was a major or minor topic of these publication.
Below are the most recent publications written about "Osteochondrodysplasias" by people in Profiles.
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Boyden ED, Campos-Xavier AB, Kalamajski S, Cameron TL, Suarez P, Tanackovic G, Tanackovich G, Andria G, Ballhausen D, Briggs MD, Hartley C, Cohn DH, Davidson HR, Hall C, Ikegawa S, Jouk PS, König R, Megarbané A, Nishimura G, Lachman RS, Mortier G, Rimoin DL, Rogers RC, Rossi M, Sawada H, Scott R, Unger S, Valadares ER, Bateman JF, Warman ML, Superti-Furga A, Bonafé L. Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. Am J Hum Genet. 2011 Dec 9; 89(6):767-72.
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Seriwatanachai D, Densmore MJ, Sato T, Correa D, Neff L, Baron R, Lanske B. Deletion of Zfp521 rescues the growth plate phenotype in a mouse model of Jansen metaphyseal chondrodysplasia. FASEB J. 2011 Sep; 25(9):3057-67.
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de la Fuente MA, Recher M, Rider NL, Strauss KA, Morton DH, Adair M, Bonilla FA, Ochs HD, Gelfand EW, Pessach IM, Walter JE, King A, Giliani S, Pai SY, Notarangelo LD. Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia. J Allergy Clin Immunol. 2011 Jul; 128(1):139-46.
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Molven A, Njølstad PR. Role of molecular genetics in transforming diagnosis of diabetes mellitus. Expert Rev Mol Diagn. 2011 Apr; 11(3):313-20.
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Lausch E, Janecke A, Bros M, Trojandt S, Alanay Y, De Laet C, Hübner CA, Meinecke P, Nishimura G, Matsuo M, Hirano Y, Tenoutasse S, Kiss A, Rosa RF, Unger SL, Renella R, Bonafé L, Spranger J, Unger S, Zabel B, Superti-Furga A. Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet. 2011 Feb; 43(2):132-7.
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Jones DC, Schweitzer MN, Wein M, Sigrist K, Takagi T, Ishii S, Glimcher LH. Uncoupling of growth plate maturation and bone formation in mice lacking both Schnurri-2 and Schnurri-3. Proc Natl Acad Sci U S A. 2010 May 4; 107(18):8254-8.
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Smith LP, Hughes MR, Thirumoorthi I, Proud VK, Penzias AS. Avoiding transmitting identified mutations to offspring using preimplantation genetic diagnosis. Obstet Gynecol. 2010 Feb; 115(2 Pt 2):460-2.
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Smits P, Bolton AD, Funari V, Hong M, Boyden ED, Lu L, Manning DK, Dwyer ND, Moran JL, Prysak M, Merriman B, Nelson SF, Bonafé L, Superti-Furga A, Ikegawa S, Krakow D, Cohn DH, Kirchhausen T, Warman ML, Beier DR. Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. N Engl J Med. 2010 Jan 21; 362(3):206-16.
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Ciccia A, Bredemeyer AL, Sowa ME, Terret ME, Jallepalli PV, Harper JW, Elledge SJ. The SIOD disorder protein SMARCAL1 is an RPA-interacting protein involved in replication fork restart. Genes Dev. 2009 Oct 15; 23(20):2415-25.
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Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH. Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet. 2009 Mar; 84(3):307-15.
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