順位 (類似度) |
PMID (PMCID) |
---|
|
合計: 24
HPO ID | 徴候・症状 | 頻度 |
---|---|---|
HP:0000054 | 小陰茎 | Very frequent (99-80%) |
HP:0000851 | 先天性甲状腺機能低下症 | Very frequent (99-80%) |
HP:0001249 | 知的障害 | Very frequent (99-80%) |
HP:0001250 | 発作 | Very frequent (99-80%) |
HP:0001263 | 全般性発達遅滞 | Very frequent (99-80%) |
HP:0001631 | 心房中隔欠損 | Very frequent (99-80%) |
HP:0006934 | 先天性眼振 | Very frequent (99-80%) |
HP:0008947 | 乳児筋性筋緊張低下 | Very frequent (99-80%) |
HP:0000028 | 停留精巣 | Frequent (79-30%) |
HP:0000252 | 小頭 | Frequent (79-30%) |
HP:0000286 | 内眼角贅皮 | Frequent (79-30%) |
HP:0000565 | 内斜視 | Frequent (79-30%) |
HP:0000766 | 胸骨の異常 | Frequent (79-30%) |
HP:0000772 | 肋骨の異常 | Frequent (79-30%) |
HP:0000773 | 短い肋骨 | Frequent (79-30%) |
HP:0000885 | 幅広い肋骨 | Frequent (79-30%) |
HP:0001162 | 軸後性多指症 | Frequent (79-30%) |
HP:0001629 | 心室中隔欠損 | Frequent (79-30%) |
HP:0001643 | 動脈管開存症 | Frequent (79-30%) |
HP:0002079 | 脳梁低形成 | Frequent (79-30%) |
HP:0002092 | 肺高血圧 | Frequent (79-30%) |
HP:0002098 | 呼吸窮迫 | Frequent (79-30%) |
HP:0002558 | 副甲状腺乳頭 | Frequent (79-30%) |
HP:0005989 | 豊富な頸部皮膚 | 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 |
---|