順位 (類似度) |
PMID (PMCID) |
---|
|
合計: 24
HPO ID | 徴候・症状 | 頻度 |
---|---|---|
HP:0000160 | 狭い口 | Very frequent (99-80%) |
HP:0000233 | 薄い唇紅部縁 | Very frequent (99-80%) |
HP:0000293 | 大きな頬 | Very frequent (99-80%) |
HP:0000346 | 口笛顔貌 | Very frequent (99-80%) |
HP:0000368 | 低位の後方回転した耳介 | Very frequent (99-80%) |
HP:0000581 | 眼瞼裂狭小 | Very frequent (99-80%) |
HP:0001181 | 内転母指 | Very frequent (99-80%) |
HP:0001250 | 発作 | Very frequent (99-80%) |
HP:0001252 | 筋緊張低下 | Very frequent (99-80%) |
HP:0001387 | 関節拘縮 | Very frequent (99-80%) |
HP:0001561 | 羊水過多 | Very frequent (99-80%) |
HP:0003043 | 肩の異常 | Very frequent (99-80%) |
HP:0004322 | 低身長 | Very frequent (99-80%) |
HP:0011344 | 重度の全般性発達遅滞 | Very frequent (99-80%) |
HP:0000201 | Pierre-Robin シークェンス | Frequent (79-30%) |
HP:0000347 | 小顎 | Frequent (79-30%) |
HP:0001511 | 子宮内成長遅滞 | Frequent (79-30%) |
HP:0002353 | 脳波異常 | Frequent (79-30%) |
HP:0000174 | 口蓋の異常 | Occasional (29-5%) |
HP:0000364 | 聴覚異常 | Occasional (29-5%) |
HP:0000366 | 鼻の異常 | Occasional (29-5%) |
HP:0001231 | 指爪の異常 | Occasional (29-5%) |
HP:0002714 | 口角下垂 | Occasional (29-5%) |
HP:0010751 | 下顎小孔 | Occasional (29-5%) |
合計: 0
HPO ID | 徴候・症状 | 症例報告数 |
---|
合計: 0
Gene Symbol | 遺伝子名 | Entrez Gene ID |
---|