| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (52.2%) |
28988429 |
Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome. Taskiran EZ, Karaosmanoglu B, Kosukcu C, Dogan OA, Taylan-ekeroglu H, imsek-Kiper PO, Utine EG, Boduroglu K, Alikasifoglu M. Am J Med Genet A. 2017;173(12):3143-3152. |
| 幅広い額 分厚い眉毛 埋伏歯 皮膚性合指症 | ||
| c|INDEL|1116_1117|GATCATCAG rs1555514463 | ||
| カドヘリン ヒト ホモ接合体 一塩基多型 全エクソーム解析 女 子供 子供（未就学） 挿入欠失変異 機能欠失変異 症候群 知的障害 細胞増殖 頭蓋顔面奇形 骨形成 | ||
| 2 (40.2%) |
20949527 |
Elsahy-Waters syndrome: Evidence for autosomal recessive inheritance. Castori M, Cascone P, Valiante M, Laino L, Iannetti G, Hennekam RC, Grammatico P. Am J Med Genet A. 2010;152A(11):2810-5. |
| 短頭 顔面非対称 | ||
| ヒト 中年 劣性遺伝子 女 妊娠 子供（未就学） 成人 新生児 男 症候群 | ||
| 3 (39.6%) |
29271567 |
Elsahy-Waters syndrome is caused by biallelic mutations in CDH11. Harms FL, Nampoothiri S, Anazi S, Yesodharan D, Alawi M, Kutsche K, Alkuraya FS. Am J Med Genet A. 2018;176(2):477-482. |
| 尿道下裂 顔面非対称 上眼瞼コロボーマ | ||
| CDH11 | ||
| rs1555515331 rs1555515924 | ||
| カドヘリン ノックアウトマウス ヒト マウス 動物 女 子供（未就学） 生殖器 男 発達性骨疾患 知的障害 鰓部 |
合計: 55
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000054 | 小陰茎 | Very frequent (99-80%) |
| HP:0000164 | 歯の異常 | Very frequent (99-80%) |
| HP:0000176 | 粘膜下硬口蓋裂 | Very frequent (99-80%) |
| HP:0000193 | 二分した口蓋垂 | Very frequent (99-80%) |
| HP:0000248 | 短頭 | Very frequent (99-80%) |
| HP:0000252 | 小頭 | Very frequent (99-80%) |
| HP:0000303 | 下顎突出 | Very frequent (99-80%) |
| HP:0000307 | 尖った下顎 | Very frequent (99-80%) |
| HP:0000316 | 両眼隔離 | Very frequent (99-80%) |
| HP:0000327 | 上顎低形成 | Very frequent (99-80%) |
| HP:0000348 | 高い額 | Very frequent (99-80%) |
| HP:0000455 | 幅広い鼻尖 | Very frequent (99-80%) |
| HP:0000470 | 短い頸部 | Very frequent (99-80%) |
| HP:0000486 | 斜視 | Very frequent (99-80%) |
| HP:0000506 | 内眼角外方偏位 | Very frequent (99-80%) |
| HP:0000520 | 眼球突出 | Very frequent (99-80%) |
| HP:0000607 | 眼窩周囲の皺 | Very frequent (99-80%) |
| HP:0000664 | 連続眉毛 | Very frequent (99-80%) |
| HP:0000670 | 齲歯 | Very frequent (99-80%) |
| HP:0000767 | 漏斗胸 | Very frequent (99-80%) |
| HP:0000808 | 陰茎陰嚢尿道下裂 | Very frequent (99-80%) |
| HP:0002342 | 知的障害, 中等度 | Very frequent (99-80%) |
| HP:0002553 | 高位の弓形眉毛 | Very frequent (99-80%) |
| HP:0002679 | トルコ鞍の異常 | Very frequent (99-80%) |
| HP:0002684 | 分厚い頭蓋冠 | Very frequent (99-80%) |
| HP:0002714 | 口角下垂 | Very frequent (99-80%) |
| HP:0005280 | 落ちくぼんだ鼻梁 | Very frequent (99-80%) |
| HP:0008516 | 脊椎棘突起の異常 | Very frequent (99-80%) |
| HP:0009748 | 大きな耳朶 | Very frequent (99-80%) |
| HP:0009907 | 付着した耳朶 | Very frequent (99-80%) |
| HP:0010299 | 象牙質異常 | Very frequent (99-80%) |
| HP:0010724 | 乳様突起含気促進 | Very frequent (99-80%) |
| HP:0010749 | 眼瞼皮膚弛緩症 | Very frequent (99-80%) |
| HP:0011072 | 歯根のない歯 | Very frequent (99-80%) |
| HP:0012368 | 平坦な顔 | Very frequent (99-80%) |
| HP:0100334 | 片側性口蓋裂 | Very frequent (99-80%) |
| HP:0430026 | Abnormality of the shape of the midface | Very frequent (99-80%) |
| HP:0000233 | 薄い唇紅部縁 | Frequent (79-30%) |
| HP:0000322 | 短い人中 | Frequent (79-30%) |
| HP:0000410 | 混合性難聴 | Frequent (79-30%) |
| HP:0000494 | 眼瞼裂斜下 | Frequent (79-30%) |
| HP:0001363 | Craniosynostosis | Frequent (79-30%) |
| HP:0003319 | 頚椎の異常 | Frequent (79-30%) |
| HP:0003423 | 胸腰椎後側弯 | Frequent (79-30%) |
| HP:0006480 | 早発性歯喪失 | Frequent (79-30%) |
| HP:0000071 | 尿管狭窄 | Occasional (29-5%) |
| HP:0000625 | 眼瞼裂 | Occasional (29-5%) |
| HP:0001250 | 発作 | Occasional (29-5%) |
| HP:0000042 | 外性器欠損 | Very rare (4-1%) |
| HP:0001537 | 臍ヘルニア | Very rare (4-1%) |
| HP:0001545 | 前方位肛門 | Very rare (4-1%) |
| HP:0002561 | 乳頭欠損 | Very rare (4-1%) |
| HP:0002836 | 膀胱外反症 | Very rare (4-1%) |
| HP:0009814 | 上肢奇肢症 | Very rare (4-1%) |
| HP:0009818 | 無肢症, 下肢 | Very rare (4-1%) |
合計: 9
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0000047 | 尿道下裂 | 2 |
| HP:0000316 | 両眼隔離 | 2 |
| HP:0000324 | 顔面非対称 | 2 |
| HP:0000248 | 短頭 | 1 |
| HP:0000337 | 幅広い額 | 1 |
| HP:0000520 | 眼球突出 | 1 |
| HP:0000577 | 外斜視 | 1 |
| HP:0001249 | 知的障害 | 1 |
| HP:0011120 | 窪んだ鼻梁 | 1 |