| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (45.7%) |
28328141 |
A 590 kb deletion caused by non-allelic homologous recombination between two LINE-1 elements in a patient with mesomelia-synostosis syndrome. Kohmoto T, Naruto T, Watanabe M, Fujita Y, Ujiro S, Okamoto N, Horikawa H, Masuda K, Imoto I. Am J Med Genet A. 2017;173(4):1082-1086. |
| 四肢中部短縮 | ||
| SLCO5A1 SULF1 | ||
| Asians DNAコピー数多型 ハイスループット核酸シーケンシング ヒト ヒト8番染色体 優性遺伝子 先天性脚変形 塩基配列 女 子供 有機アニオン輸送体 相同組換え 配列欠損 | ||
| 2 (31.0%) |
6254701 |
Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13-22). Pfeiffer RA. Clin Genet. 1980;18(2):142-6. |
| 合指趾症 | ||
| ヒト ヒト染色体6-12番とX染色体 合指症 子供 染色体欠失 男 症候群 知的障害 軟骨腫 | ||
| 3 (21.2%) |
19725128 |
Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: follow-up study documents progressive clinical course. Isidor B, Hamel A, Plasschaert F, Claus L, Mercier JM, Mortier GR, Leroy JG, Verloes A, David A. Am J Med Genet A. 2009;149A(10):2220-5. |
| 両眼隔離 骨格異形成 | ||
| FLNB | ||
| ヒト 中年 先端異形成症 女 子供 子供（未就学） 成人 男 病状悪化 症候群 経過観察 |
合計: 41
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000347 | 小顎 | Very frequent (99-80%) |
| HP:0000494 | 眼瞼裂斜下 | Very frequent (99-80%) |
| HP:0000506 | 内眼角外方偏位 | Very frequent (99-80%) |
| HP:0000508 | 眼瞼下垂 | Very frequent (99-80%) |
| HP:0001155 | 手の異常 | Very frequent (99-80%) |
| HP:0001156 | 短指症候群 | Very frequent (99-80%) |
| HP:0001163 | 中手骨の異常 | Very frequent (99-80%) |
| HP:0001387 | 関節拘縮 | Very frequent (99-80%) |
| HP:0001440 | 中足骨癒合症 | Very frequent (99-80%) |
| HP:0001760 | 足の異常 | Very frequent (99-80%) |
| HP:0001773 | 短い足 | Very frequent (99-80%) |
| HP:0002652 | 骨格異形成 | Very frequent (99-80%) |
| HP:0002705 | 高狭口蓋 | Very frequent (99-80%) |
| HP:0002983 | 小肢症 | Very frequent (99-80%) |
| HP:0002992 | 脛骨の異常 | Very frequent (99-80%) |
| HP:0003019 | 手関節の異常 | Very frequent (99-80%) |
| HP:0003027 | 四肢中部短縮 | Very frequent (99-80%) |
| HP:0003063 | 上腕骨の異常 | Very frequent (99-80%) |
| HP:0004209 | 第5指弯指 | Very frequent (99-80%) |
| HP:0004322 | 低身長 | Very frequent (99-80%) |
| HP:0005048 | 手根骨癒合症 | Very frequent (99-80%) |
| HP:0009465 | 指の尺側偏位 | Very frequent (99-80%) |
| HP:0010293 | 口蓋垂の無形成/低形成 | Very frequent (99-80%) |
| HP:0100240 | 関節骨癒合症 | Very frequent (99-80%) |
| HP:0002823 | 大腿骨の異常 | Frequent (79-30%) |
| HP:0000126 | 水腎症 | Occasional (29-5%) |
| HP:0000160 | 狭い口 | Occasional (29-5%) |
| HP:0000190 | 口腔小帯異常 | Occasional (29-5%) |
| HP:0000272 | 平坦な頬 | Occasional (29-5%) |
| HP:0000325 | 三角形の顔 | Occasional (29-5%) |
| HP:0000343 | 長い人中 | Occasional (29-5%) |
| HP:0000365 | 難聴 | Occasional (29-5%) |
| HP:0000414 | 球状の鼻 | Occasional (29-5%) |
| HP:0000444 | 凸の鼻梁 | Occasional (29-5%) |
| HP:0000534 | 眉毛の異常 | Occasional (29-5%) |
| HP:0000545 | 近視 | Occasional (29-5%) |
| HP:0001537 | 臍ヘルニア | Occasional (29-5%) |
| HP:0002815 | 膝の異常 | Occasional (29-5%) |
| HP:0002857 | 外反膝 | Occasional (29-5%) |
| HP:0003028 | 足関節の異常 | Occasional (29-5%) |
| HP:0030680 | Abnormality of cardiovascular system morphology | 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 |
|---|