| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 5 (4.0%) |
9561541 |
Perlman syndrome: a case report emphasizing its similarity to and distinction from Beckwith-Wiedemann and prune-belly syndromes. Fahmy J, Kaminsky CK, Parisi MT. Pediatr Radiol. 1998;28(3):179-82. |
| プルーンべりー | ||
| X線コンピュータ断層撮影 ヒト プルーンベリー症候群 ベックウィズ・ウィーデマン症候群 低血圧 巨人症 新生児 男 症候群 経過観察 腎臓 致死的転帰 超音波検査 鑑別診断 顔面 | ||
| 5 (4.0%) |
8577560 |
Perlman syndrome: report of a case with additional radiographic findings. Herman TE, McAlister WH. Pediatr Radiol. 1995;25 Suppl 1:S70-2. |
| 腸回転異常 | ||
| ヒト 劣性遺伝子 新生児 未熟児疾患 男 症候群 胎児性巨大児 腎臓 腸 骨 |
合計: 38
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000098 | 高身長 | Very frequent (99-80%) |
| HP:0000177 | 上口唇の異常 | Very frequent (99-80%) |
| HP:0000194 | 開口 | Very frequent (99-80%) |
| HP:0000256 | 大頭 | Very frequent (99-80%) |
| HP:0000278 | 下顎後退 | Very frequent (99-80%) |
| HP:0000311 | 丸い顔 | Very frequent (99-80%) |
| HP:0000319 | 平坦な人中 | Very frequent (99-80%) |
| HP:0000347 | 小顎 | Very frequent (99-80%) |
| HP:0000348 | 高い額 | Very frequent (99-80%) |
| HP:0000431 | 幅広い鼻梁 | Very frequent (99-80%) |
| HP:0000490 | 落ちくぼんだ眼 | Very frequent (99-80%) |
| HP:0001249 | 知的障害 | Very frequent (99-80%) |
| HP:0001252 | 筋緊張低下 | Very frequent (99-80%) |
| HP:0001263 | 全般性発達遅滞 | Very frequent (99-80%) |
| HP:0001328 | 特異的学習障害 | Very frequent (99-80%) |
| HP:0002240 | 肝腫大 | Very frequent (99-80%) |
| HP:0003196 | 短い鼻 | Very frequent (99-80%) |
| HP:0000028 | 停留精巣 | Frequent (79-30%) |
| HP:0000187 | 幅広い歯槽隆起 | Frequent (79-30%) |
| HP:0000286 | 内眼角贅皮 | Frequent (79-30%) |
| HP:0000358 | 耳介後方回転 | Frequent (79-30%) |
| HP:0000369 | 耳介低位 | Frequent (79-30%) |
| HP:0000391 | 分厚い耳輪 | Frequent (79-30%) |
| HP:0000463 | 上向きの鼻孔 | Frequent (79-30%) |
| HP:0000842 | 高インスリン血症 | Frequent (79-30%) |
| HP:0002667 | 腎芽腫 (Wilms 腫瘍) | Frequent (79-30%) |
| HP:0002705 | 高狭口蓋 | Frequent (79-30%) |
| HP:0008736 | 陰茎低形成 | Frequent (79-30%) |
| HP:0012090 | 膵形態の異常 | Frequent (79-30%) |
| HP:0000023 | 鼠径ヘルニア | Occasional (29-5%) |
| HP:0000268 | 長頭 | Occasional (29-5%) |
| HP:0000508 | 眼瞼下垂 | Occasional (29-5%) |
| HP:0001250 | 発作 | Occasional (29-5%) |
| HP:0002133 | てんかん重積 | Occasional (29-5%) |
| HP:0005306 | 毛細血管血管腫 | Occasional (29-5%) |
| HP:0007598 | 両側性単一手掌横線 | Occasional (29-5%) |
| HP:0010733 | 眼瞼の火炎状母斑 | Occasional (29-5%) |
| HP:0100541 | 大腿ヘルニア | Occasional (29-5%) |
合計: 13
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0001561 | 羊水過多 | 4 |
| HP:0003271 | 内臓肥大 | 4 |
| HP:0008643 | 腎芽腫症 | 4 |
| HP:0001548 | 過成長 | 3 |
| HP:0000028 | 停留精巣 | 2 |
| HP:0000256 | 大頭 | 1 |
| HP:0001028 | 血管腫 | 1 |
| HP:0001396 | 胆汁うっ滞 | 1 |
| HP:0001791 | 胎児腹水 | 1 |
| HP:0002566 | 腸回転異常 | 1 |
| HP:0004392 | プルーンべりー | 1 |
| HP:0100790 | ヘルニア | 1 |
| HP:0100880 | 腎原性遺残 | 1 |