| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (32.7%) |
11807860 |
Camurati-Engelmann disease type II: progressive diaphyseal dysplasia with striations of the bones. Nishimura G, Nishimura H, Tanaka Y, Makita Y, Ikegawa S, Ghadami M, Kinoshita A, Niikawa N. Am J Med Genet. 2002;107(1):5-11. |
| 屈曲拘縮 骨幹異形成 | ||
| TGFB1 TGFBR1 | ||
| I型アクチビン受容体 Receptor, Transforming Growth Factor-beta Type I カムラチ・エンゲルマン症候群 タンパク質セリンスレオニンキナーゼ トランスフォーミング増殖因子β受容体 ヒト 女 子供 手 脚 骨 骨盤 | ||
| 2 (21.2%) |
10486016 |
Hyperostosis generalisata with striations of the bones: report of a female case and a review of the literature. Fujimoto H, Nishimura G, Tsumurai Y, Nosaka K, Kanisawa S, Ohba S, Tanaka Y. Skeletal Radiol. 1999;28(8):460-4. |
| 骨化過剰 | ||
| ヒト 女 発達性骨疾患 骨 骨増殖症 | ||
| 3 (4.0%) |
16915387 |
Hyperphosphatasia with massive osteoectasia: a 45-year follow-up. McCarthy EF, Sack GH. Skeletal Radiol. 2007;36 Suppl 1:S2-6. |
| 性腺機能低下症 | ||
| X線コンピュータ断層撮影 アルカリホスファターゼ ヒト 変形性骨炎 男 発達性骨疾患 致死的転帰 骨 |
合計: 45
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000944 | 骨幹端の異常 | Very frequent (99-80%) |
| HP:0002684 | 分厚い頭蓋冠 | Very frequent (99-80%) |
| HP:0005465 | 顔面過骨症 | Very frequent (99-80%) |
| HP:0008808 | 高い腸骨翼 | Very frequent (99-80%) |
| HP:0008818 | 大きな腸骨翼 | Very frequent (99-80%) |
| HP:0011001 | 骨ミネラル濃度の増加 | Very frequent (99-80%) |
| HP:0011002 | 大理石骨症 | Very frequent (99-80%) |
| HP:0100670 | 粗い骨梁 | Very frequent (99-80%) |
| HP:0000175 | 口蓋裂 | Frequent (79-30%) |
| HP:0000176 | 粘膜下硬口蓋裂 | Frequent (79-30%) |
| HP:0000193 | 二分した口蓋垂 | Frequent (79-30%) |
| HP:0000239 | 大きな泉門 | Frequent (79-30%) |
| HP:0000256 | 大頭 | Frequent (79-30%) |
| HP:0000270 | 頭蓋骨縫合閉鎖遅延 | Frequent (79-30%) |
| HP:0000405 | 伝音難聴 | Frequent (79-30%) |
| HP:0000431 | 幅広い鼻梁 | Frequent (79-30%) |
| HP:0000684 | 歯萌出遅延 | Frequent (79-30%) |
| HP:0002007 | 前頭突出, 額突出 | Frequent (79-30%) |
| HP:0002650 | 側弯 | Frequent (79-30%) |
| HP:0002705 | 高狭口蓋 | Frequent (79-30%) |
| HP:0005469 | 平坦な後頭 | Frequent (79-30%) |
| HP:0011220 | 目立つ額 | Frequent (79-30%) |
| HP:0000248 | 短頭 | Occasional (29-5%) |
| HP:0000278 | 下顎後退 | Occasional (29-5%) |
| HP:0000286 | 内眼角贅皮 | Occasional (29-5%) |
| HP:0000347 | 小顎 | Occasional (29-5%) |
| HP:0000358 | 耳介後方回転 | Occasional (29-5%) |
| HP:0000369 | 耳介低位 | Occasional (29-5%) |
| HP:0000518 | 白内障 | Occasional (29-5%) |
| HP:0001249 | 知的障害 | Occasional (29-5%) |
| HP:0001263 | 全般性発達遅滞 | Occasional (29-5%) |
| HP:0001328 | 特異的学習障害 | Occasional (29-5%) |
| HP:0001555 | 胸郭非対称 | Occasional (29-5%) |
| HP:0001650 | 大動脈弁狭窄 | Occasional (29-5%) |
| HP:0001680 | 大動脈縮窄 | Occasional (29-5%) |
| HP:0002300 | 無言症 | Occasional (29-5%) |
| HP:0002357 | 発語障害 | Occasional (29-5%) |
| HP:0002381 | 失語症 | Occasional (29-5%) |
| HP:0002514 | 大脳石灰化 | Occasional (29-5%) |
| HP:0003298 | 潜在性二分脊椎 | Occasional (29-5%) |
| HP:0003307 | 前弯 | Occasional (29-5%) |
| HP:0003510 | 重度の低身長 | Occasional (29-5%) |
| HP:0010529 | 反響言語 | Occasional (29-5%) |
| HP:0010628 | 顔面麻痺 | Occasional (29-5%) |
| HP:0012368 | 平坦な顔 | Occasional (29-5%) |
合計: 0
| HPO ID | 徴候・症状 | 症例報告数 |
|---|