| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (20.4%) |
23158907 (3545852) |
Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? Melis D, Cappuccio G, Ginocchio VM, Minopoli G, Valli M, Corradi M, Andria G. Ital J Pediatr. 2012;38:65. |
| 関節過動 | ||
| COL1A2 | ||
| エクソン エーラース・ダンロス症候群 ヒト 三尖弁閉鎖不全症 僧帽弁閉鎖不全 変異 大動脈弁閉鎖不全 女 子供 皮膚異常 経過観察 表現型 酵素阻害薬 鑑別診断 関節不安定 |
合計: 27
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000963 | 薄い皮膚 | Very frequent (99-80%) |
| HP:0000974 | 過伸展皮膚 | Very frequent (99-80%) |
| HP:0001001 | 皮下脂肪組織の異常 | Very frequent (99-80%) |
| HP:0001252 | 筋緊張低下 | Very frequent (99-80%) |
| HP:0001373 | 関節脱臼 | Very frequent (99-80%) |
| HP:0001385 | 股関節異形成 | Very frequent (99-80%) |
| HP:0001387 | 関節拘縮 | Very frequent (99-80%) |
| HP:0002300 | 無言症 | Very frequent (99-80%) |
| HP:0002357 | 発語障害 | Very frequent (99-80%) |
| HP:0002381 | 失語症 | Very frequent (99-80%) |
| HP:0002673 | 外反股 | Very frequent (99-80%) |
| HP:0002812 | 内反股 | Very frequent (99-80%) |
| HP:0002827 | 股関節脱臼 | Very frequent (99-80%) |
| HP:0003510 | 重度の低身長 | Very frequent (99-80%) |
| HP:0005692 | 関節過伸展 | Very frequent (99-80%) |
| HP:0005743 | 大腿骨骨頭骨端の無血管性壊死 | Very frequent (99-80%) |
| HP:0010529 | 反響言語 | Very frequent (99-80%) |
| HP:0010547 | 筋弛緩 | Very frequent (99-80%) |
| HP:0100699 | 瘢痕 | Very frequent (99-80%) |
| HP:0000278 | 下顎後退 | Frequent (79-30%) |
| HP:0000286 | 内眼角贅皮 | Frequent (79-30%) |
| HP:0000316 | 両眼隔離 | Frequent (79-30%) |
| HP:0000347 | 小顎 | Frequent (79-30%) |
| HP:0002650 | 側弯 | Frequent (79-30%) |
| HP:0005280 | 落ちくぼんだ鼻梁 | Frequent (79-30%) |
| HP:0000023 | 鼠径ヘルニア | Occasional (29-5%) |
| HP:0100541 | 大腿ヘルニア | Occasional (29-5%) |
合計: 0
| HPO ID | 徴候・症状 | 症例報告数 |
|---|