順位 (類似度) |
PMID (PMCID) |
---|
|
合計: 19
HPO ID | 徴候・症状 | 頻度 |
---|---|---|
HP:0000175 | 口蓋裂 | Very frequent (99-80%) |
HP:0000252 | 小頭 | Very frequent (99-80%) |
HP:0000400 | 大耳 | Very frequent (99-80%) |
HP:0002750 | 骨格骨化遅延 | Very frequent (99-80%) |
HP:0004322 | 低身長 | Very frequent (99-80%) |
HP:0000047 | 尿道下裂 | Frequent (79-30%) |
HP:0000212 | 歯肉過成長 | Frequent (79-30%) |
HP:0000347 | 小顎 | Frequent (79-30%) |
HP:0000411 | 耳介聳立 | Frequent (79-30%) |
HP:0000508 | 眼瞼下垂 | Frequent (79-30%) |
HP:0000767 | 漏斗胸 | Frequent (79-30%) |
HP:0001252 | 筋緊張低下 | Frequent (79-30%) |
HP:0001263 | 全般性発達遅滞 | Frequent (79-30%) |
HP:0001800 | 趾爪低形成 | Frequent (79-30%) |
HP:0003202 | 筋萎縮 | Frequent (79-30%) |
HP:0004428 | 妖精顔貌 | Frequent (79-30%) |
HP:0006709 | 乳頭無形成/低形成 | Frequent (79-30%) |
HP:0009465 | 指の尺側偏位 | Frequent (79-30%) |
HP:0009882 | 短い指末節骨 | 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 |
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