| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (45.7%) |
26275437 |
Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5. Martinez-Garcia M, Garcia-Canto E, Fenollar-Cortes M, Aytes AP, Trujillo-Tiebas MJ. J Bone Miner Metab. 2016;34(5):599-603. |
| 小肢症 | ||
| GDF5 | ||
| p|SUB|R|377|W;RS#:770941419 | ||
| アミノ酸モチーフ タンパク質前駆体 ヒト 女 子供（未就学） 男 骨軟骨異形成症 | ||
| 1 (45.7%) |
9288098 |
Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1. Thomas JT, Kilpatrick MW, Lin K, Erlacher L, Lembessis P, Costa T, Tsipouras P, Luyten FP. Nat Genet. 1997;17(1):58-64. |
| 重度の四肢短縮 | ||
| BMP1 | ||
| rs74315387 | ||
| COS細胞 アミノ酸配列 ヒト ヘテロ接合体 低身長症 保存配列 優性遺伝子 先天性手変形 劣性遺伝子 動物 塩基配列 女 形態形成 形質移入 手指 点変異 生長素 男 遺伝子組換えタンパク質 骨形成タンパク質 骨軟骨異形成症 |
合計: 18
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0001156 | 短指症候群 | Very frequent (99-80%) |
| HP:0001387 | 関節拘縮 | Very frequent (99-80%) |
| HP:0001773 | 短い足 | Very frequent (99-80%) |
| HP:0001831 | 短い趾 | Very frequent (99-80%) |
| HP:0002652 | 骨格異形成 | Very frequent (99-80%) |
| HP:0002983 | 小肢症 | Very frequent (99-80%) |
| HP:0005048 | 手根骨癒合症 | Very frequent (99-80%) |
| HP:0005914 | 中手骨無形成/低形成 | Very frequent (99-80%) |
| HP:0006487 | 長管骨湾曲 | Very frequent (99-80%) |
| HP:0008368 | 足根骨癒合症 | Very frequent (99-80%) |
| HP:0008873 | 不均衡型短肢低身長 | Very frequent (99-80%) |
| HP:0100242 | 肉腫 | Very frequent (99-80%) |
| HP:0100387 | 趾の中節骨無形成 | Very frequent (99-80%) |
| HP:0001162 | 軸後性多指症 | Frequent (79-30%) |
| HP:0003038 | 腓骨低形成 | Frequent (79-30%) |
| HP:0005736 | 短い脛骨 | Frequent (79-30%) |
| HP:0009601 | 母指無形成/低形成 | Frequent (79-30%) |
| HP:0001522 | Death in infancy | Occasional (29-5%) |
合計: 2
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0002983 | 小肢症 | 1 |
| HP:0200083 | 重度の四肢短縮 | 1 |