順位 (類似度) |
PMID (PMCID) |
---|
|
合計: 27
HPO ID | 徴候・症状 | 頻度 |
---|---|---|
HP:0000057 | 巨大陰核 | Very frequent (99-80%) |
HP:0000212 | 歯肉過成長 | Very frequent (99-80%) |
HP:0000316 | 両眼隔離 | Very frequent (99-80%) |
HP:0000347 | 小顎 | Very frequent (99-80%) |
HP:0000356 | 外耳の異常 | Very frequent (99-80%) |
HP:0000369 | 耳介低位 | Very frequent (99-80%) |
HP:0000485 | 巨大角膜 | Very frequent (99-80%) |
HP:0000695 | 出産歯 | Very frequent (99-80%) |
HP:0000894 | 短い鎖骨 | Very frequent (99-80%) |
HP:0000938 | 骨減少症 | Very frequent (99-80%) |
HP:0001007 | 多毛 | Very frequent (99-80%) |
HP:0001156 | 短指症候群 | Very frequent (99-80%) |
HP:0001591 | ベル型胸 | Very frequent (99-80%) |
HP:0001978 | 髄外造血 | Very frequent (99-80%) |
HP:0003175 | 坐骨低形成 | Very frequent (99-80%) |
HP:0004440 | 冠状縫合早期癒合 | Very frequent (99-80%) |
HP:0004453 | 耳輪上部の過剰な巻き込み | Very frequent (99-80%) |
HP:0005474 | 頭蓋冠骨化減少 | Very frequent (99-80%) |
HP:0007642 | 先天性停止性夜盲症 | Very frequent (99-80%) |
HP:0010455 | 深い寛骨臼蓋 | Very frequent (99-80%) |
HP:0011223 | 人字縫合陥没 | Very frequent (99-80%) |
HP:0011800 | 顔面中部後退 | Very frequent (99-80%) |
HP:0030042 | Incomplete ossification of pubis | Very frequent (99-80%) |
HP:0040166 | Abnormality of the periosteum | Very frequent (99-80%) |
HP:0001433 | 肝脾腫 | Occasional (29-5%) |
HP:0002814 | 下肢の異常 | Occasional (29-5%) |
HP:0002979 | 下肢湾曲 | Occasional (29-5%) |
合計: 0
HPO ID | 徴候・症状 | 症例報告数 |
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