| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (11.2%) |
12673638 |
Fetoplacental discrepancy involving structural abnormalities of chromosome 8 detected by prenatal diagnosis. Soler A, Sanchez A, Carrio A, Badenas C, Mila M, Borrell A. Prenat Diagn. 2003;23(4):319-22. |
| 水頭症 浮腫 | ||
| ENDOU PTGES3 | ||
| ハイリスク妊娠 ヒト ヒト8番染色体 マイクロサテライト反復 モザイク現象 優生手術 出産年齢 女 妊娠 成人 染色体検査 染色体欠失 男 絨毛検査 蛍光インサイツハイブリダイゼーション法 遺伝的モデル |
合計: 36
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000028 | 停留精巣 | Very frequent (99-80%) |
| HP:0000044 | 低ゴナドトロピン性性腺機能低下症 | Very frequent (99-80%) |
| HP:0000135 | 性腺機能低下症 | Very frequent (99-80%) |
| HP:0000347 | 小顎 | Very frequent (99-80%) |
| HP:0000864 | 視床下部-下垂体軸異常 | Very frequent (99-80%) |
| HP:0001249 | 知的障害 | Very frequent (99-80%) |
| HP:0001263 | 全般性発達遅滞 | Very frequent (99-80%) |
| HP:0001878 | 溶血性貧血 | Very frequent (99-80%) |
| HP:0004322 | 低身長 | Very frequent (99-80%) |
| HP:0004444 | 球状赤血球症 | Very frequent (99-80%) |
| HP:0008736 | 陰茎低形成 | Very frequent (99-80%) |
| HP:0000027 | 無精子症 | Frequent (79-30%) |
| HP:0000218 | 高口蓋 | Frequent (79-30%) |
| HP:0000252 | 小頭 | Frequent (79-30%) |
| HP:0000639 | 眼振 | Frequent (79-30%) |
| HP:0004467 | 耳介前小孔 | Frequent (79-30%) |
| HP:0008572 | 外耳奇形 | Frequent (79-30%) |
| HP:0000286 | 内眼角贅皮 | Occasional (29-5%) |
| HP:0000316 | 両眼隔離 | Occasional (29-5%) |
| HP:0000458 | 無嗅覚 | Occasional (29-5%) |
| HP:0000482 | 小角膜 | Occasional (29-5%) |
| HP:0000556 | 網膜ジストロフィー | Occasional (29-5%) |
| HP:0000581 | 眼瞼裂狭小 | Occasional (29-5%) |
| HP:0000582 | 眼瞼裂斜上 | Occasional (29-5%) |
| HP:0000612 | コロボーマ | Occasional (29-5%) |
| HP:0000960 | 仙骨部陥凹 | Occasional (29-5%) |
| HP:0001250 | 発作 | Occasional (29-5%) |
| HP:0001510 | 成長遅滞 | Occasional (29-5%) |
| HP:0001631 | 心房中隔欠損 | Occasional (29-5%) |
| HP:0001634 | 僧帽弁逸脱 | Occasional (29-5%) |
| HP:0001643 | 動脈管開存症 | Occasional (29-5%) |
| HP:0001744 | 脾腫 | Occasional (29-5%) |
| HP:0001762 | 内反尖足 | Occasional (29-5%) |
| HP:0005280 | 落ちくぼんだ鼻梁 | Occasional (29-5%) |
| HP:0005815 | 副肋骨 | Occasional (29-5%) |
| HP:0011968 | 食餌摂取障害 | Occasional (29-5%) |
合計: 0
| HPO ID | 徴候・症状 | 症例報告数 |
|---|