骨幹端軟骨異形成症マクージック型
WordNet
- write by means of a keyboard with types; "type the acceptance letter, please" (同)typewrite
- a small metal block bearing a raised character on one end; produces a printed character when inked and pressed on paper; "he dropped a case of type, so they made him pick them up"
- (biology) the taxonomic group whose characteristics are used to define the next higher taxon
- a subdivision of a particular kind of thing; "what type of sculpture do you prefer?"
- all of the tokens of the same symbol; "the word `element contains five different types of character"
- printed characters; "small type is hard to read"
- identify as belonging to a certain type; "Such people can practically be typed" (同)typecast
- writing done with a typewriter (同)typewriting
PrepTutorEJDIC
- 〈C〉(…の)『型』,タイプ,類型,種類(kind)《+of+名》 / 〈C〉(その種類の特質を最もよく表している)『典型』,手本,模範《+of+名》 / 〈U〉《集合的に》活字;〈C〉(1個の)活字 / 〈U〉(印刷された)字体,活字 / 〈C〉(貨幣・メダルなどの)模様,図柄 / 〈C〉血液型(blood group) / …‘を'タイプに打つ / (…として)…‘を'分類する《+名+as+名(doing)》 / …‘の'型を決める / タイプライターを打つ
UpToDate Contents
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English Journal
- Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia.
- Bacchetta J1, Ranchin B, Brunet AS, Bouvier R, Duquesne A, Edery P, Fabien N, Peretti N.
- Pediatric nephrology (Berlin, Germany).Pediatr Nephrol.2009 Dec;24(12):2449-53. doi: 10.1007/s00467-009-1256-0. Epub 2009 Jul 22.
- McKusick type metaphyseal chondrodysplasia, or cartilage hair hypoplasia (CHH), is a rare autosomal recessive osteochondrodysplasia secondary to a mutation in the RMRP gene. In addition to the metaphyseal chondrodysplasia and the short-limb dwarfism, patients may present with a multisystemic disease
- PMID 19626344
- Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T> A and 79G >T in RMRPgene.
- Lam AC1, Chan DH, Tong TM, Tang MH, Lo SY, Lo IF, Lam ST.
- Prenatal diagnosis.Prenat Diagn.2006 Nov;26(11):1018-20.
- We present the first confirmed case by molecular analysis of a metaphyseal chondrodysplasia, McKusick type, in a 22-week fetus. Two novel compound heterozygous mutations, 64T> A and 79G > T, were found in the highly conserved regions of the RMRP gene. Twenty-two heterozygous g.1018 T> C mut
- PMID 16941720
- RMRP mutations in cartilage-hair hypoplasia.
- Hermanns P1, Tran A, Munivez E, Carter S, Zabel B, Lee B, Leroy JG.
- American journal of medical genetics. Part A.Am J Med Genet A.2006 Oct 1;140(19):2121-30.
- Cartilage hair hypoplasia (CHH) or McKusick type metaphyseal chondrodysplasia (MCD) (OMIM # 250250) is due to either the homozygous or compound heterozygous mutations in the nuclear encoded, non-coding RNA gene RMRP. Twenty-seven CHH patients were referred for molecular evaluation of the clinical di
- PMID 16838329
Japanese Journal
- Cartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick : description of seven patients and review of the literature
Related Links
- Metaphyseal chondrodysplasia, McKusick type SNOMED CT Metaphyseal chondrodysplasia, McKusick type, ID: 7720002 Synonyms Cartilage hair hypoplasia like syndrome, Cartilage hair syndrome, Cartilage-Hair Hypoplasia, Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders ...
- McKusick type metaphyseal chondrodysplasia, also known as cartilage-hair hypoplasia, is a rare progressive inherited disorder characterized by unusually fine, sparse hair and short stature with abnormally short arms and legs (short ...
★リンクテーブル★
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- 英
- metaphyseal chondrodysplasia McKusick type
- 同
- 軟骨毛髪低形成症 cartilage-hair hypoplasia, CHH
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- (windows)ファイル内容表示(linux -> cat])
- ex. type report_20111118.jp.htm | php a.php > report_20111118.jp.jp.jp.html
- 関
- form、mode、pattern、type specimen、typed
[★]
- 関
- form、mode、pattern、type
[★]
[★]
- 関
- metaphysis
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- 関
- Skeletal dysplasia