順位 (類似度) |
PMID (PMCID) |
---|
|
合計: 13
HPO ID | 徴候・症状 | 頻度 |
---|---|---|
HP:0000703 | 象牙質形成不全 | Very frequent (99-80%) |
HP:0011120 | 窪んだ鼻梁 | Very frequent (99-80%) |
HP:0000268 | 長頭 | Frequent (79-30%) |
HP:0000316 | 両眼隔離 | Frequent (79-30%) |
HP:0000629 | 大きな眼窩周囲 | Frequent (79-30%) |
HP:0002645 | ウォルム氏骨 | Frequent (79-30%) |
HP:0002756 | 病的骨折 | Frequent (79-30%) |
HP:0003103 | 骨皮質形態異常 | Frequent (79-30%) |
HP:0004322 | 低身長 | Frequent (79-30%) |
HP:0009824 | 上肢成長不全 | Frequent (79-30%) |
HP:0001376 | 関節運動制限 | Occasional (29-5%) |
HP:0001773 | 短い足 | Occasional (29-5%) |
HP:0001863 | 弯趾 | 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 |
---|