| 順位 （類似度） |
PMID (PMCID) |
|---|
|
|
合計: 47
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000506 | 内眼角外方偏位 | Very frequent (99-80%) |
| HP:0000689 | 不正咬合 | Very frequent (99-80%) |
| HP:0000767 | 漏斗胸 | Very frequent (99-80%) |
| HP:0000768 | はと胸 | Very frequent (99-80%) |
| HP:0003312 | 椎体骨形態異常 | Very frequent (99-80%) |
| HP:0006292 | 歯萌出異常 | Very frequent (99-80%) |
| HP:0008551 | 小耳 | Very frequent (99-80%) |
| HP:0009907 | 付着した耳朶 | Very frequent (99-80%) |
| HP:0010807 | 開放咬合 | Very frequent (99-80%) |
| HP:0011800 | 顔面中部後退 | Very frequent (99-80%) |
| HP:0012368 | 平坦な顔 | Very frequent (99-80%) |
| HP:0100490 | 屈指 | Very frequent (99-80%) |
| HP:0000160 | 狭い口 | Frequent (79-30%) |
| HP:0000218 | 高口蓋 | Frequent (79-30%) |
| HP:0000248 | 短頭 | Frequent (79-30%) |
| HP:0000252 | 小頭 | Frequent (79-30%) |
| HP:0000275 | 狭い顔 | Frequent (79-30%) |
| HP:0000286 | 内眼角贅皮 | Frequent (79-30%) |
| HP:0000303 | 下顎突出 | Frequent (79-30%) |
| HP:0000463 | 上向きの鼻孔 | Frequent (79-30%) |
| HP:0000482 | 小角膜 | Frequent (79-30%) |
| HP:0000774 | 狭い胸郭 | Frequent (79-30%) |
| HP:0000995 | メラニン細胞母斑 | Frequent (79-30%) |
| HP:0001156 | 短指症候群 | Frequent (79-30%) |
| HP:0001249 | 知的障害 | Frequent (79-30%) |
| HP:0001250 | 発作 | Frequent (79-30%) |
| HP:0001263 | 全般性発達遅滞 | Frequent (79-30%) |
| HP:0001511 | 子宮内成長遅滞 | Frequent (79-30%) |
| HP:0001770 | 合趾症 | Frequent (79-30%) |
| HP:0001822 | 外反母趾 | Frequent (79-30%) |
| HP:0001831 | 短い趾 | Frequent (79-30%) |
| HP:0002414 | 二分脊椎 | Frequent (79-30%) |
| HP:0002714 | 口角下垂 | Frequent (79-30%) |
| HP:0002750 | 骨格骨化遅延 | Frequent (79-30%) |
| HP:0002967 | 外反肘 | Frequent (79-30%) |
| HP:0003196 | 短い鼻 | Frequent (79-30%) |
| HP:0003691 | 翼状肩甲骨 | Frequent (79-30%) |
| HP:0004322 | 低身長 | Frequent (79-30%) |
| HP:0005280 | 落ちくぼんだ鼻梁 | Frequent (79-30%) |
| HP:0009891 | 眼窩上縁未発達 | Frequent (79-30%) |
| HP:0000276 | 長い顔 | Occasional (29-5%) |
| HP:0000368 | 低位の後方回転した耳介 | Occasional (29-5%) |
| HP:0000581 | 眼瞼裂狭小 | Occasional (29-5%) |
| HP:0000664 | 連続眉毛 | Occasional (29-5%) |
| HP:0000960 | 仙骨部陥凹 | Occasional (29-5%) |
| HP:0002553 | 高位の弓形眉毛 | Occasional (29-5%) |
| HP:0009882 | 短い指末節骨 | 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 |
|---|