順位 (類似度) |
PMID (PMCID) |
|
---|---|---|
1 (60.5%) |
12969232 |
Unusual oral findings in dermatosparaxis (Ehlers-Danlos syndrome type VIIC). De Coster PJ, Malfait F, Martens LC, De Paepe A. J Oral Pathol Med. 2003;32(9):568-70. |
小顎 減歯症 | ||
ADAMTS2 | ||
エーラース・ダンロス症候群 ヒト 口腔先天異常 女 歯牙異常 顎関節異常 顎関節症 | ||
2 (57.8%) |
1403389 |
Initial observations of human dermatosparaxis: Ehlers-Danlos syndrome type VIIC. Wertelecki W, Smith LT, Byers P. J Pediatr. 1992;121(4):558-64. |
小顎 | ||
エーラース・ダンロス症候群 ヒト プロコラーゲン 女 新生児 皮膚 電子顕微鏡 |
合計: 36
HPO ID | 徴候・症状 | 頻度 |
---|---|---|
HP:0000938 | 骨減少症 | Very frequent (99-80%) |
HP:0000939 | 骨粗鬆症 | Very frequent (99-80%) |
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:0001367 | 関節形態異常 | 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:0002020 | 胃食道逆流 | Very frequent (99-80%) |
HP:0002036 | 裂孔ヘルニア | 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:0002748 | くる病 | Very frequent (99-80%) |
HP:0002749 | 骨軟化症 | 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:0003010 | 遷出血時間遷延 | 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:0007392 | 過剰な皺の多い皮膚 | Very frequent (99-80%) |
HP:0010529 | 反響言語 | Very frequent (99-80%) |
HP:0100633 | 食道炎 | Very frequent (99-80%) |
HP:0100699 | 瘢痕 | Very frequent (99-80%) |
HP:0100790 | ヘルニア | Very frequent (99-80%) |
HP:0000023 | 鼠径ヘルニア | Frequent (79-30%) |
HP:0000278 | 下顎後退 | Frequent (79-30%) |
HP:0000286 | 内眼角贅皮 | 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:0100541 | 大腿ヘルニア | Frequent (79-30%) |
合計: 0
HPO ID | 徴候・症状 | 症例報告数 |
---|