順位 (類似度) |
PMID (PMCID) |
---|
|
合計: 27
HPO ID | 徴候・症状 | 頻度 |
---|---|---|
HP:0000405 | 伝音難聴 | Very frequent (99-80%) |
HP:0001256 | 知的障害, 軽度 | Very frequent (99-80%) |
HP:0005899 | 骨幹端異骨症 | Very frequent (99-80%) |
HP:0000403 | 反復性中耳炎 | Frequent (79-30%) |
HP:0001169 | 幅広い手掌 | Frequent (79-30%) |
HP:0001388 | 関節指間 | Frequent (79-30%) |
HP:0001769 | 幅広い足 | Frequent (79-30%) |
HP:0001773 | 短い足 | Frequent (79-30%) |
HP:0001964 | 中足骨無形成/低形成 | Frequent (79-30%) |
HP:0002868 | 狭い腸骨翼 | Frequent (79-30%) |
HP:0002970 | 内反膝 | Frequent (79-30%) |
HP:0002979 | 下肢湾曲 | Frequent (79-30%) |
HP:0003015 | 骨幹端フレア | Frequent (79-30%) |
HP:0003016 | 骨幹端拡大 | Frequent (79-30%) |
HP:0003026 | 短い長管骨 | Frequent (79-30%) |
HP:0003085 | 長い腓骨 | Frequent (79-30%) |
HP:0004279 | 短い手掌 | Frequent (79-30%) |
HP:0006009 | 幅広い指骨 | Frequent (79-30%) |
HP:0006413 | 幅広い脛骨骨幹端 | Frequent (79-30%) |
HP:0006417 | 幅広い大腿骨骨幹端 | Frequent (79-30%) |
HP:0008110 | 内反尖足変形 | Frequent (79-30%) |
HP:0008873 | 不均衡型短肢低身長 | Frequent (79-30%) |
HP:0009760 | 肘前翼状片 | Frequent (79-30%) |
HP:0100255 | 骨幹端異形成 | Frequent (79-30%) |
HP:0100864 | 短い大腿骨頸部 | Frequent (79-30%) |
HP:0000486 | 斜視 | Occasional (29-5%) |
HP:0000540 | 遠視 | 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 |
---|