順位 (類似度) |
PMID (PMCID) |
---|
|
合計: 21
HPO ID | 徴候・症状 | 頻度 |
---|---|---|
HP:0000944 | 骨幹端の異常 | Very frequent (99-80%) |
HP:0001156 | 短指症候群 | Very frequent (99-80%) |
HP:0001163 | 中手骨の異常 | Very frequent (99-80%) |
HP:0001385 | 股関節異形成 | Very frequent (99-80%) |
HP:0002644 | 骨盤帯骨の形態異常 | Very frequent (99-80%) |
HP:0002650 | 側弯 | Very frequent (99-80%) |
HP:0002652 | 骨格異形成 | Very frequent (99-80%) |
HP:0003312 | 椎体骨形態異常 | Very frequent (99-80%) |
HP:0004209 | 第5指弯指 | Very frequent (99-80%) |
HP:0004322 | 低身長 | Very frequent (99-80%) |
HP:0004349 | 骨ミネラル濃度減少 | Very frequent (99-80%) |
HP:0000520 | 眼球突出 | Frequent (79-30%) |
HP:0001511 | 子宮内成長遅滞 | Frequent (79-30%) |
HP:0000160 | 狭い口 | Occasional (29-5%) |
HP:0000233 | 薄い唇紅部縁 | Occasional (29-5%) |
HP:0000368 | 低位の後方回転した耳介 | Occasional (29-5%) |
HP:0000486 | 斜視 | Occasional (29-5%) |
HP:0001263 | 全般性発達遅滞 | Occasional (29-5%) |
HP:0001671 | 心中隔 | Occasional (29-5%) |
HP:0003196 | 短い鼻 | Occasional (29-5%) |
HP:0007957 | 角膜混濁 | 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 |
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