| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 9 (4.0%) |
9235398 |
[Lens coloboma and lens dislocation in Stickler (Marshall) syndrome]. Schlote T, Volker M, Knorr M, Thiel HJ. Klin Monbl Augenheilkd. 1997;210(4):227-8. |
| 緑内障 | ||
| ヒト 偏位水晶体 優性遺伝子 女 子供 成人 水晶体 男 症候群 | ||
| 9 (4.0%) |
7214117 |
Marshall syndrome: a condition resembling congenital syphilis. Onile BA, Rotowa A, Osoba AO, Alausa OK. Br J Vener Dis. 1981;57(2):100-2. |
| 白内障 | ||
| ヒト 先天性梅毒 外胚葉異形成症 男 鑑別診断 |
合計: 42
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000164 | 歯の異常 | Very frequent (99-80%) |
| HP:0000179 | 分厚い下口唇唇紅部 | Very frequent (99-80%) |
| HP:0000215 | 分厚い上口唇唇紅部 | Very frequent (99-80%) |
| HP:0000248 | 短頭 | Very frequent (99-80%) |
| HP:0000272 | 平坦な頬 | Very frequent (99-80%) |
| HP:0000316 | 両眼隔離 | Very frequent (99-80%) |
| HP:0000343 | 長い人中 | Very frequent (99-80%) |
| HP:0000347 | 小顎 | Very frequent (99-80%) |
| HP:0000407 | 感音難聴 | Very frequent (99-80%) |
| HP:0000431 | 幅広い鼻梁 | Very frequent (99-80%) |
| HP:0000463 | 上向きの鼻孔 | Very frequent (99-80%) |
| HP:0000518 | 白内障 | Very frequent (99-80%) |
| HP:0000545 | 近視 | Very frequent (99-80%) |
| HP:0002829 | 関節痛 | Very frequent (99-80%) |
| HP:0003196 | 短い鼻 | Very frequent (99-80%) |
| HP:0004322 | 低身長 | Very frequent (99-80%) |
| HP:0005280 | 落ちくぼんだ鼻梁 | Very frequent (99-80%) |
| HP:0010669 | 頬骨未発達 | Very frequent (99-80%) |
| HP:0012368 | 平坦な顔 | Very frequent (99-80%) |
| HP:0000175 | 口蓋裂 | Frequent (79-30%) |
| HP:0000327 | 上顎低形成 | Frequent (79-30%) |
| HP:0000501 | 緑内障 | Frequent (79-30%) |
| HP:0000505 | 視力障害 | Frequent (79-30%) |
| HP:0000520 | 眼球突出 | Frequent (79-30%) |
| HP:0000541 | 網膜剥離 | Frequent (79-30%) |
| HP:0000646 | 弱視 | Frequent (79-30%) |
| HP:0000655 | 硝子体網膜変性 | Frequent (79-30%) |
| HP:0000966 | 減汗症 | Frequent (79-30%) |
| HP:0001006 | 寡毛症 | Frequent (79-30%) |
| HP:0001083 | 異所性水晶体 | Frequent (79-30%) |
| HP:0002514 | 大脳石灰化 | Frequent (79-30%) |
| HP:0002684 | 分厚い頭蓋冠 | Frequent (79-30%) |
| HP:0002738 | 前頭洞低形成 | Frequent (79-30%) |
| HP:0002758 | 骨関節炎 | Frequent (79-30%) |
| HP:0002857 | 外反膝 | Frequent (79-30%) |
| HP:0004327 | 硝子体液の異常 | Frequent (79-30%) |
| HP:0000218 | 高口蓋 | Occasional (29-5%) |
| HP:0000486 | 斜視 | Occasional (29-5%) |
| HP:0000535 | 疎な眉毛 | Occasional (29-5%) |
| HP:0000639 | 眼振 | Occasional (29-5%) |
| HP:0000653 | 疎な睫毛 | Occasional (29-5%) |
| HP:0002007 | 前頭突出, 額突出 | Occasional (29-5%) |
合計: 12
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0000518 | 白内障 | 3 |
| HP:0000501 | 緑内障 | 2 |
| HP:0000545 | 近視 | 2 |
| HP:0002652 | 骨格異形成 | 2 |
| HP:0000316 | 両眼隔離 | 1 |
| HP:0000589 | コロボーマ | 1 |
| HP:0001945 | 発熱 | 1 |
| HP:0003040 | 関節症 | 1 |
| HP:0010280 | 口内炎 | 1 |
| HP:0011003 | 重度近視 | 1 |
| HP:0025439 | Pharyngitis | 1 |
| HP:0100719 | 水晶体コロボーマ | 1 |