順位 (類似度) |
PMID (PMCID) |
---|
|
合計: 24
HPO ID | 徴候・症状 | 頻度 |
---|---|---|
HP:0000232 | 下口唇唇紅部外反 | Very frequent (99-80%) |
HP:0000252 | 小頭 | Very frequent (99-80%) |
HP:0000316 | 両眼隔離 | Very frequent (99-80%) |
HP:0000347 | 小顎 | Very frequent (99-80%) |
HP:0000348 | 高い額 | Very frequent (99-80%) |
HP:0000368 | 低位の後方回転した耳介 | Very frequent (99-80%) |
HP:0000494 | 眼瞼裂斜下 | Very frequent (99-80%) |
HP:0000581 | 眼瞼裂狭小 | Very frequent (99-80%) |
HP:0002007 | 前頭突出, 額突出 | Very frequent (99-80%) |
HP:0002916 | 染色体分離の異常 | Very frequent (99-80%) |
HP:0003196 | 短い鼻 | Very frequent (99-80%) |
HP:0004322 | 低身長 | Very frequent (99-80%) |
HP:0005280 | 落ちくぼんだ鼻梁 | Very frequent (99-80%) |
HP:0005692 | 関節過伸展 | Very frequent (99-80%) |
HP:0100543 | 認知障害 | Very frequent (99-80%) |
HP:0000028 | 停留精巣 | Frequent (79-30%) |
HP:0000218 | 高口蓋 | Frequent (79-30%) |
HP:0000248 | 短頭 | Frequent (79-30%) |
HP:0000444 | 凸の鼻梁 | Frequent (79-30%) |
HP:0000767 | 漏斗胸 | Frequent (79-30%) |
HP:0002650 | 側弯 | Frequent (79-30%) |
HP:0008056 | 眼無形成/低形成 | Frequent (79-30%) |
HP:0000079 | 尿路異常 | Occasional (29-5%) |
HP:0002564 | 心および大血管奇形 | 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 |
---|