| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (4.0%) |
27035001 |
[Multiple endocrine neoplasia type 1 syndrome with three classical components and chiasm glioma: specific features of target organ lesions and a clinical observation]. Mokrysheva NG, Mamedova EO, Pigarova EA, Berezkina YA, Vorontsov AV, Azizyan VN, Grigoriev AY, Alekseeva TR, Kutin MA, Kochatkov AV, Rozhinskaya LY. Ter Arkh. 2015;87(12):122-127. |
| 発作 | ||
| MEN1 | ||
| ヒト 多発性内分泌腫瘍症1型 女 成人 神経膠腫 視交叉 視神経腫瘍 |
合計: 60
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000098 | 高身長 | Very frequent (99-80%) |
| HP:0000158 | 巨舌 | Very frequent (99-80%) |
| HP:0000179 | 分厚い下口唇唇紅部 | Very frequent (99-80%) |
| HP:0000276 | 長い顔 | Very frequent (99-80%) |
| HP:0000280 | 粗な顔貌 | Very frequent (99-80%) |
| HP:0000293 | 大きな頬 | Very frequent (99-80%) |
| HP:0000303 | 下顎突出 | Very frequent (99-80%) |
| HP:0000337 | 幅広い額 | Very frequent (99-80%) |
| HP:0000400 | 大耳 | Very frequent (99-80%) |
| HP:0000445 | 幅広い鼻 | Very frequent (99-80%) |
| HP:0000830 | 下垂体前葉機能低下症 | Very frequent (99-80%) |
| HP:0000845 | 成長ホルモン過剰症 | Very frequent (99-80%) |
| HP:0000870 | プロラクチン過剰症 | Very frequent (99-80%) |
| HP:0000975 | 多汗 | Very frequent (99-80%) |
| HP:0001072 | 分厚い皮膚 | Very frequent (99-80%) |
| HP:0001176 | 大きな手 | Very frequent (99-80%) |
| HP:0001182 | 先細りの指 | Very frequent (99-80%) |
| HP:0001386 | 関節腫脹 | Very frequent (99-80%) |
| HP:0001769 | 幅広い足 | Very frequent (99-80%) |
| HP:0001869 | 深い足底屈曲線 | Very frequent (99-80%) |
| HP:0002758 | 骨関節炎 | Very frequent (99-80%) |
| HP:0002829 | 関節痛 | Very frequent (99-80%) |
| HP:0003859 | 上肢の皮質骨端肥厚 | Very frequent (99-80%) |
| HP:0004099 | 巨指趾 | Very frequent (99-80%) |
| HP:0006191 | 深い手掌屈曲線 | Very frequent (99-80%) |
| HP:0012378 | 疲労 | Very frequent (99-80%) |
| HP:0000044 | 低ゴナドトロピン性性腺機能低下症 | Frequent (79-30%) |
| HP:0000141 | 無月経 | Frequent (79-30%) |
| HP:0000164 | 歯の異常 | Frequent (79-30%) |
| HP:0000664 | 連続眉毛 | Frequent (79-30%) |
| HP:0000687 | 歯間隔離 | Frequent (79-30%) |
| HP:0000716 | うつ | Frequent (79-30%) |
| HP:0000739 | 不安 | Frequent (79-30%) |
| HP:0000819 | 糖尿病 | Frequent (79-30%) |
| HP:0000822 | 高血圧 | Frequent (79-30%) |
| HP:0001231 | 指爪の異常 | Frequent (79-30%) |
| HP:0001609 | 嗄声 | Frequent (79-30%) |
| HP:0002007 | 前頭突出, 額突出 | Frequent (79-30%) |
| HP:0002076 | 偏頭痛 | Frequent (79-30%) |
| HP:0002230 | 全身性多毛 | Frequent (79-30%) |
| HP:0002808 | 後弯 | Frequent (79-30%) |
| HP:0002893 | 下垂体腺腫 | Frequent (79-30%) |
| HP:0003401 | 感覚異常 | Frequent (79-30%) |
| HP:0003416 | 脊椎管狭窄 | Frequent (79-30%) |
| HP:0006767 | 下垂体プロラクチン細胞腺腫 | Frequent (79-30%) |
| HP:0008388 | 趾爪の異常 | Frequent (79-30%) |
| HP:0010535 | 睡眠時無呼吸 | Frequent (79-30%) |
| HP:0011760 | 下垂体成長ホルモン細胞腺腫 | Frequent (79-30%) |
| HP:0012802 | 幅広い下顎 | Frequent (79-30%) |
| HP:0100021 | 脳性麻痺 | Frequent (79-30%) |
| HP:0100540 | 眼瞼浮腫 | Frequent (79-30%) |
| HP:0100607 | 月経困難 | Frequent (79-30%) |
| HP:0100829 | 乳汁漏出 | Frequent (79-30%) |
| HP:0000802 | インポテンス | Occasional (29-5%) |
| HP:0000956 | 黒色表皮腫 | Occasional (29-5%) |
| HP:0001639 | 肥大型心筋症 | Occasional (29-5%) |
| HP:0001653 | 僧帽弁逆流 | Occasional (29-5%) |
| HP:0007440 | 全身性高色素 | Occasional (29-5%) |
| HP:0100518 | 排尿障害 | Occasional (29-5%) |
| HP:0100786 | 過剰睡眠 | 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 |
|---|