順位 (類似度) |
PMID (PMCID) |
---|
|
合計: 16
HPO ID | 徴候・症状 | 頻度 |
---|---|---|
HP:0000465 | 翼状頚 | Obligate (100%) |
HP:0000248 | 短頭 | Frequent (79-30%) |
HP:0000316 | 両眼隔離 | Frequent (79-30%) |
HP:0000368 | 低位の後方回転した耳介 | Frequent (79-30%) |
HP:0000508 | 眼瞼下垂 | Frequent (79-30%) |
HP:0000537 | 逆内眼角贅皮 | Frequent (79-30%) |
HP:0000582 | 眼瞼裂斜上 | Frequent (79-30%) |
HP:0001249 | 知的障害 | Frequent (79-30%) |
HP:0001290 | 全身性筋緊張低下 | Frequent (79-30%) |
HP:0002553 | 高位の弓形眉毛 | Frequent (79-30%) |
HP:0006247 | 指間(IP)関節の拡大 | Frequent (79-30%) |
HP:0009623 | 近位母指 | Frequent (79-30%) |
HP:0009662 | 母指末節骨骨端の異常 | Frequent (79-30%) |
HP:0009836 | 幅広い指末節骨 | Frequent (79-30%) |
HP:0025537 | Plantar edema | Frequent (79-30%) |
HP:0025538 | Palmar edema | Frequent (79-30%) |
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 |
---|