| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (51.7%) |
10797420 |
SPONASTRIME dysplasia: report of an 11-year-old boy and review of the literature. Cooper HA, Crowe J, Butler MG. Am J Med Genet. 2000;92(1):33-9. |
| 前頭突出, 額突出 骨幹端不規則性 | ||
| ヒト 女 子供 子供（未就学） 幼児 男 発達性骨疾患 鑑別診断 骨軟骨異形成症 | ||
| 2 (50.5%) |
7551156 |
Heterogeneity of SPONASTRIME dysplasia: delineation of a variant form with severe mental retardation. Verloes A, Misson JP, Dubru JM, Jamblin P, Le Merrer M. Clin Dysmorphol. 1995;4(3):208-15. |
| 小頭 Metaphyseal striations | ||
| ヒト 子供 男 症候群 発達性骨疾患 知的障害 | ||
| 3 (39.3%) |
18203204 |
Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts. Gripp KW, Johnson C, Scott CI Jr, Nicholson L, Bober M, Butler MG, Shaw L, Gorlin RJ. Am J Med Genet A. 2008;146A(4):468-73. |
| 脊椎骨端骨幹端異形成 短い歯根 | ||
| ヒト 女 子供 子供（未就学） 無ガンマグロブリン血症 男 白内障 表現型 骨軟骨異形成症 | ||
| 4 (32.7%) |
8989461 |
SPONASTRIME dysplasia: report on a female patient with severe skeletal changes. Masuno M, Nishimura G, Adachi M, Hotsubo T, Tachibana K, Makita Y, Imaizumi K, Kuroki Y. Am J Med Genet. 1996;66(4):429-32. |
| 線状骨症 | ||
| ヒト 女 幼児 発達性骨疾患 | ||
| 5 (4.0%) |
27149441 (4863758) |
Arnold Chiari Malformation With Sponastrime (Spondylar and Nasal Changes, With Striations of the Metaphyses) Dysplasia: A Case Report. Jeong JH, Lee AL, Cho SY, Jin DK, Im SB. Medicine (Baltimore). 2016;95(18):e3155. |
| Arnold-Chiari 奇形 | ||
| アーノルド・キアリ奇形 ヒト 外科的減圧術 成人 男 磁気共鳴画像法 脊髄 脊髄空洞症 頸椎 骨軟骨異形成症 |
合計: 26
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000272 | 平坦な頬 | Very frequent (99-80%) |
| HP:0000463 | 上向きの鼻孔 | Very frequent (99-80%) |
| HP:0000926 | 扁平脊椎 | Very frequent (99-80%) |
| HP:0000939 | 骨粗鬆症 | Very frequent (99-80%) |
| HP:0000944 | 骨幹端の異常 | Very frequent (99-80%) |
| HP:0001163 | 中手骨の異常 | Very frequent (99-80%) |
| HP:0002007 | 前頭突出, 額突出 | Very frequent (99-80%) |
| HP:0002651 | 脊椎骨端骨幹端異形成 | Very frequent (99-80%) |
| HP:0002750 | 骨格骨化遅延 | Very frequent (99-80%) |
| HP:0002938 | 腰椎前弯 hyperlordosis | Very frequent (99-80%) |
| HP:0003027 | 四肢中部短縮 | Very frequent (99-80%) |
| HP:0003196 | 短い鼻 | Very frequent (99-80%) |
| HP:0004322 | 低身長 | Very frequent (99-80%) |
| HP:0005280 | 落ちくぼんだ鼻梁 | Very frequent (99-80%) |
| HP:0005930 | 骨端の異常 | Very frequent (99-80%) |
| HP:0008905 | 四肢近位短縮 | Very frequent (99-80%) |
| HP:0001252 | 筋緊張低下 | Frequent (79-30%) |
| HP:0001288 | 歩行障害 | Frequent (79-30%) |
| HP:0001385 | 股関節異形成 | Frequent (79-30%) |
| HP:0002650 | 側弯 | Frequent (79-30%) |
| HP:0002808 | 後弯 | Frequent (79-30%) |
| HP:0004493 | 頭蓋顔面過骨症 | Frequent (79-30%) |
| HP:0005692 | 関節過伸展 | Frequent (79-30%) |
| HP:0012471 | 分厚い唇紅部縁 | Frequent (79-30%) |
| HP:0000518 | 白内障 | Occasional (29-5%) |
| HP:0004313 | 低ガンマグロブリン血症 | Occasional (29-5%) |
合計: 5
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0000252 | 小頭 | 1 |
| HP:0000518 | 白内障 | 1 |
| HP:0002651 | 脊椎骨端骨幹端異形成 | 1 |
| HP:0002652 | 骨格異形成 | 1 |
| HP:0006336 | 短い歯根 | 1 |