| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (32.7%) |
10678656 |
Spondylometaphyseal dysplasia: Sedaghatian type. Koutouby A, Habibullah J, Moinuddin FA. Am J Med Genet. 2000;90(3):199-202. |
| 骨幹端軟骨異形成 | ||
| ヒト 新生児 男 脳波記録 臨床化学検査 骨軟骨異形成症 | ||
| 2 (30.2%) |
9556300 |
Spondylometaphyseal dysplasia-Sedaghatian type. Elcioglu N, Hall CM. Am J Med Genet. 1998;76(5):410-4. |
| 長い腓骨 | ||
| ヒト 劣性遺伝子 女 幼児 手指 新生児 男 胎児死亡 腓骨 致死的転帰 骨 骨軟骨異形成症 | ||
| 3 (21.2%) |
19508970 (4144354) |
Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. Furuichi T, Kayserili H, Hiraoka S, Nishimura G, Ohashi H, Alanay Y, Lerena JC, Aslanger AD, Koseki H, Cohn DH, Superti-Furga A, Unger S, Ikegawa S. J Med Genet. 2009;46(8):562-8. |
| 骨格異形成 | ||
| SLC35D1 | ||
| c|SUB|A|193|C;RS#:267607062 c|SUB|A|IVS4+3|G c|SUB|C|319|T;RS#:267607063 p|FS|L|109||18 p|FS|R|178||15 p|SUB|R|107|X;RS#:267607063 p|SUB|T|65|P;RS#:267607062 rs267607062 rs267607063 | ||
| Molecular Sequence Data PCR法 ヌクレオチド ヒト 出芽酵母 分子クローニング 単糖輸送体 塩基配列 変異 女 妊娠 男 発達性骨疾患 胎児疾患 遺伝子欠失 配列アライメント | ||
| 4 (4.0%) |
10955475 |
Spondylometaphyseal dysplasia Sedaghatian type associated with lethal arrhythmia and normal intrauterine growth in three siblings. Kerr B, Smith V, Patel R, Ladusans E, Sillence DO. Clin Dysmorphol. 2000;9(3):167-72. |
| 不整脈 | ||
| ヒト 不整脈 新生児 核家族 男 胚胎児発生 致死的転帰 骨軟骨異形成症 | ||
| 4 (4.0%) |
1481828 |
Spondylometaphyseal dysplasia, Sedaghatian type. Peeden JN Jr, Rimoin DL, Lachman RS, Dyer ML, Gerard D, Gruber HE. Am J Med Genet. 1992;44(5):651-6. |
| 心筋炎 | ||
| ヒト 心ブロック 新生児 男 骨 骨軟骨異形成症 |
合計: 25
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000772 | 肋骨の異常 | Very frequent (99-80%) |
| HP:0000782 | 肩甲骨の異常 | Very frequent (99-80%) |
| HP:0000926 | 扁平脊椎 | Very frequent (99-80%) |
| HP:0001678 | 房室ブロック | Very frequent (99-80%) |
| HP:0002657 | 脊椎骨幹端異形成 | Very frequent (99-80%) |
| HP:0002750 | 骨格骨化遅延 | Very frequent (99-80%) |
| HP:0003085 | 長い腓骨 | Very frequent (99-80%) |
| HP:0003498 | 不均衡型低身長 | Very frequent (99-80%) |
| HP:0004279 | 短い手掌 | Very frequent (99-80%) |
| HP:0004991 | 四肢近位短縮性腕短縮 | Very frequent (99-80%) |
| HP:0005871 | 骨幹端軟骨異形成 | Very frequent (99-80%) |
| HP:0006543 | 心肺停止 | Very frequent (99-80%) |
| HP:0008786 | 鋸状腸骨稜 | Very frequent (99-80%) |
| HP:0010049 | 短い中手骨 | Very frequent (99-80%) |
| HP:0011675 | 不整脈 | Very frequent (99-80%) |
| HP:0000262 | 塔状頭 | Frequent (79-30%) |
| HP:0000774 | 狭い胸郭 | Frequent (79-30%) |
| HP:0001290 | 全身性筋緊張低下 | Frequent (79-30%) |
| HP:0001321 | 小脳低形成 | Frequent (79-30%) |
| HP:0002093 | 呼吸不全 | Frequent (79-30%) |
| HP:0001274 | 脳梁無発生 | Occasional (29-5%) |
| HP:0001302 | 脳回肥厚 | Occasional (29-5%) |
| HP:0005616 | 骨成熟促進 | Occasional (29-5%) |
| HP:0010579 | 円錐骨端 | Occasional (29-5%) |
| HP:0012819 | 心筋炎 | Occasional (29-5%) |
合計: 1
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0011675 | 不整脈 | 1 |