| 順位 （類似度） |
PMID (PMCID) |
|---|
|
|
合計: 49
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000347 | 小顎 | Very frequent (99-80%) |
| HP:0000418 | 狭い鼻梁 | Very frequent (99-80%) |
| HP:0000819 | 糖尿病 | Very frequent (99-80%) |
| HP:0000855 | インスリン抵抗性 | Very frequent (99-80%) |
| HP:0000991 | 黄色腫症 | Very frequent (99-80%) |
| HP:0002155 | 高トリグリセリド血症 | Very frequent (99-80%) |
| HP:0002216 | 早発性毛髪白髪 | Very frequent (99-80%) |
| HP:0002240 | 肝腫大 | Very frequent (99-80%) |
| HP:0003712 | 筋肥大 | Very frequent (99-80%) |
| HP:0003717 | 最少の皮下脂肪 | Very frequent (99-80%) |
| HP:0003758 | 皮下脂肪組織減少 | Very frequent (99-80%) |
| HP:0005328 | プロゲリア様顔貌 | Very frequent (99-80%) |
| HP:0008065 | 皮膚無形成/低形成 | Very frequent (99-80%) |
| HP:0009125 | リポジストロフィー | Very frequent (99-80%) |
| HP:0100578 | 脂肪萎縮 | Very frequent (99-80%) |
| HP:0000147 | 多嚢胞性卵巣 | Frequent (79-30%) |
| HP:0000287 | 顔面脂肪組織増加 | Frequent (79-30%) |
| HP:0000311 | 丸い顔 | Frequent (79-30%) |
| HP:0000468 | 頸部周囲の脂肪組織増加 | Frequent (79-30%) |
| HP:0000869 | 二次性無月経 | Frequent (79-30%) |
| HP:0000956 | 黒色表皮腫 | Frequent (79-30%) |
| HP:0000963 | 薄い皮膚 | Frequent (79-30%) |
| HP:0001397 | 脂肪肝 | Frequent (79-30%) |
| HP:0001597 | 爪の異常 | Frequent (79-30%) |
| HP:0001870 | 末節骨融解 (足) | Frequent (79-30%) |
| HP:0002621 | 動脈硬化症 | Frequent (79-30%) |
| HP:0003233 | 高αリポ蛋白血症 | Frequent (79-30%) |
| HP:0003292 | 血清レプチン減少 | Frequent (79-30%) |
| HP:0003635 | 四肢の皮下脂肪組織喪失 | Frequent (79-30%) |
| HP:0004416 | 早発性動脈硬化症 | Frequent (79-30%) |
| HP:0004943 | 動脈硬化症促進 | Frequent (79-30%) |
| HP:0006288 | 歯萌出促進 | Frequent (79-30%) |
| HP:0008968 | 下肢筋肥大 | Frequent (79-30%) |
| HP:0008993 | 腹内脂肪の増加 | Frequent (79-30%) |
| HP:0009771 | 指骨の骨融解病変 | Frequent (79-30%) |
| HP:0030685 | Decreased adiponectin level | Frequent (79-30%) |
| HP:0040266 | Proximal upper limb muscle hypertrophy | Frequent (79-30%) |
| HP:0001635 | うっ血性心不全 | Occasional (29-5%) |
| HP:0001639 | 肥大型心筋症 | Occasional (29-5%) |
| HP:0001677 | 冠動脈疾患 | Occasional (29-5%) |
| HP:0001733 | 膵炎 | Occasional (29-5%) |
| HP:0001744 | 脾腫 | Occasional (29-5%) |
| HP:0002230 | 全身性多毛 | Occasional (29-5%) |
| HP:0003198 | ミオパチー | Occasional (29-5%) |
| HP:0003326 | 筋痛 | Occasional (29-5%) |
| HP:0005115 | 上室性不整脈 | Occasional (29-5%) |
| HP:0005150 | 異常な房室電動 | Occasional (29-5%) |
| HP:0100607 | 月経困難 | Occasional (29-5%) |
| HP:0004308 | 心室性不整脈 | Very rare (4-1%) |
合計: 0
| HPO ID | 徴候・症状 | 症例報告数 |
|---|