順位 (類似度) |
PMID (PMCID) |
---|
|
合計: 23
HPO ID | 徴候・症状 | 頻度 |
---|---|---|
HP:0000582 | 眼瞼裂斜上 | Very frequent (99-80%) |
HP:0000944 | 骨幹端の異常 | Very frequent (99-80%) |
HP:0001072 | 分厚い皮膚 | Very frequent (99-80%) |
HP:0001156 | 短指症候群 | Very frequent (99-80%) |
HP:0001163 | 中手骨の異常 | Very frequent (99-80%) |
HP:0001167 | 指の異常 | Very frequent (99-80%) |
HP:0001288 | 歩行障害 | Very frequent (99-80%) |
HP:0001387 | 関節拘縮 | Very frequent (99-80%) |
HP:0002816 | 反張膝 | Very frequent (99-80%) |
HP:0003312 | 椎体骨形態異常 | Very frequent (99-80%) |
HP:0003510 | 重度の低身長 | Very frequent (99-80%) |
HP:0005930 | 骨端の異常 | Very frequent (99-80%) |
HP:0011304 | 幅広い母指 | Very frequent (99-80%) |
HP:0100490 | 屈指 | Very frequent (99-80%) |
HP:0100679 | 皮膚弾性欠如 | Very frequent (99-80%) |
HP:0000581 | 眼瞼裂狭小 | Frequent (79-30%) |
HP:0001482 | 皮下結節 | Frequent (79-30%) |
HP:0002650 | 側弯 | Frequent (79-30%) |
HP:0002967 | 外反肘 | Frequent (79-30%) |
HP:0012745 | 短い眼瞼裂 | Frequent (79-30%) |
HP:0100795 | 異常にまっすぐな脊椎 | Frequent (79-30%) |
HP:0000486 | 斜視 | Occasional (29-5%) |
HP:0003042 | 肘脱臼 | 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 |
---|