| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (72.5%) |
14566439 |
Recessive omodysplasia: five new cases and review of the literature. Elcioglu NH, Gustavson KH, Wilkie AO, Yuksel-Apak M, Spranger JW. Pediatr Radiol. 2004;34(1):75-82. |
| 長い人中 小肢症 短い上腕骨 | ||
| ヒト 女 子供 子供（未就学） 男 骨 骨軟骨異形成症 | ||
| 2 (58.9%) |
3065771 |
Diastrophic dysplasia: a specific prenatal diagnosis by ultrasound. Gembruch U, Niesen M, Kehrberg H, Hansmann M. Prenat Diagn. 1988;8(7):539-45. |
| 小顎 ヒッチハイカー母指 | ||
| ヒト 女 妊娠 妊娠中期 成人 発達性骨疾患 胎児鏡検査 超音波検査 | ||
| 3 (57.8%) |
304707 |
[Distal trisomy 15q]. Turleau C, de Grouchy J, Chavin-Colin F, Roubin M. Ann Genet. 1977;20(3):214-6. |
| 長頭 小顎 | ||
| トリソミー ヒト ヒト染色体13-15番 子供（未就学） 幼児 新生児 男 | ||
| 4 (48.2%) |
20358597 |
A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases. Kim OH, Nishimura G, Song HR, Matsui Y, Sakazume S, Yamada M, Narumi Y, Alanay Y, Unger S, Cho TJ, Park SS, Ikegawa S, Meinecke P, Superti-Furga A. Am J Med Genet A. 2010;152A(4):875-85. |
| 関節炎 短い中手骨 | ||
| SLC26A2 | ||
| rs377546036 | ||
| ヒト 先天性手変形 先天性足変形 同胞 女 子供 子供（未就学） 成人 男 発達性骨疾患 膝 若年成人 骨格による年齢判定 骨盤 | ||
| 5 (46.0%) |
15887278 |
Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location. Tan TY, McGillivray G, Kornman L, Fink AM, Superti-Furga A, Bonafe L, Francis DI, Savarirayan R. Am J Med Genet A. 2005;135(3):324-7. |
| 骨格異形成 小肢症 前外方橈骨頭脱臼 | ||
| SLC26A2 | ||
| アニオン輸送体 ヒト ヒト15番染色体 出生前超音波検査 劣性遺伝子 変異 女 妊娠 担体タンパク質 新生児 染色体検査 発達性骨疾患 膜輸送体 | ||
| 6 (45.7%) |
23657516 |
Diastrophic dysplasia: prenatal diagnosis and review of the literature. Honorio JC, Bruns RF, Grundtner LF, Raskin S, Ferrari LP, Araujo Junior E, Nardozza LM. Sao Paulo Med J. 2013;131(2):127-32. |
| 骨格異形成 四肢中部短縮 | ||
| SLC26A2 | ||
| c|INS|2147_2148|CT c|SUB|C|862|T | ||
| ヒト 低身長症 女 妊娠 成人 新生児 男 胎児疾患 超音波検査 | ||
| 7 (37.5%) |
11857516 |
Prenatal sonographic diagnosis of diastrophic dwarfism. Tongsong T, Wanapirak C, Sirichotiyakul S, Chanprapaph P. J Clin Ultrasound. 2002;30(2):103-5. |
| ばち状化 ヒッチハイカー母指 胸部側弯 | ||
| ヒト 低身長症 女 妊娠 成人 新生児 男 超音波検査 | ||
| 8 (36.8%) |
9602486 |
Case report: prenatal diagnosis of diastrophic dysplasia by ultrasound at 21 weeks of gestation in a mother with massive obesity. Jung C, Sohn C, Sergi C. Prenat Diagn. 1998;18(4):378-83. |
| 肥満 手関節の尺側偏位 胸郭異形成 手の尺側偏位 | ||
| ヒト 低身長症 出生前超音波検査 在胎期間 女 妊娠 妊娠合併症 成人 発達性骨疾患 肥満 鑑別診断 | ||
| 9 (36.1%) |
19144099 (2648951) |
Advanced ossification of the carpal bones, and monkey wrench appearance of the femora, features suggestive of a propable mild form of desbeqious dysplasia: a case report and review of the literature. Al Kaissi A, Radler C, Klaushofer K, Grill F. Cases J. 2009;2(1):45. |
| ヒッチハイカー母指 外反膝 | ||
| 10 (35.4%) |
20693580 |
Diastrophic dysplasia in a seven-year-old girl. Case study. Szczepaniak-Kubat A, Tesiorowski M, Merc-Golebiowska Z, Jakubowska-Pietkiewicz E. Ortop Traumatol Rehabil. 2010;12(3):257-63. |
| ヒッチハイカー母指 | ||
| ヒト 先天性脚変形 女 子供 発達性骨疾患 神経学的検査 頸椎 |
合計: 43
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000256 | 大頭 | Very frequent (99-80%) |
| HP:0000772 | 肋骨の異常 | Very frequent (99-80%) |
| HP:0000889 | 鎖骨の異常 | Very frequent (99-80%) |
| HP:0000944 | 骨幹端の異常 | Very frequent (99-80%) |
| HP:0001163 | 中手骨の異常 | Very frequent (99-80%) |
| HP:0001511 | 子宮内成長遅滞 | Very frequent (99-80%) |
| HP:0002650 | 側弯 | Very frequent (99-80%) |
| HP:0002983 | 小肢症 | Very frequent (99-80%) |
| HP:0003312 | 椎体骨形態異常 | Very frequent (99-80%) |
| HP:0005280 | 落ちくぼんだ鼻梁 | Very frequent (99-80%) |
| HP:0005930 | 骨端の異常 | Very frequent (99-80%) |
| HP:0006487 | 長管骨湾曲 | Very frequent (99-80%) |
| HP:0008434 | 頚椎低形成 | Very frequent (99-80%) |
| HP:0008921 | 新生児短い-四肢低身長 | Very frequent (99-80%) |
| HP:0009381 | 短い指 | Very frequent (99-80%) |
| HP:0009623 | 近位母指 | Very frequent (99-80%) |
| HP:0009748 | 大きな耳朶 | Very frequent (99-80%) |
| HP:0009773 | 指骨の指関節癒合症 | Very frequent (99-80%) |
| HP:0011001 | 骨ミネラル濃度の増加 | Very frequent (99-80%) |
| HP:0011800 | 顔面中部後退 | Very frequent (99-80%) |
| HP:0000175 | 口蓋裂 | Frequent (79-30%) |
| HP:0000293 | 大きな頬 | Frequent (79-30%) |
| HP:0000316 | 両眼隔離 | Frequent (79-30%) |
| HP:0000368 | 低位の後方回転した耳介 | Frequent (79-30%) |
| HP:0000396 | 耳輪の過剰な巻き込み | Frequent (79-30%) |
| HP:0000592 | 青色強膜 | Frequent (79-30%) |
| HP:0001252 | 筋緊張低下 | Frequent (79-30%) |
| HP:0001373 | 関節脱臼 | Frequent (79-30%) |
| HP:0001385 | 股関節異形成 | Frequent (79-30%) |
| HP:0001387 | 関節拘縮 | Frequent (79-30%) |
| HP:0002093 | 呼吸不全 | Frequent (79-30%) |
| HP:0002205 | 反復性呼吸器感染症 | Frequent (79-30%) |
| HP:0002808 | 後弯 | Frequent (79-30%) |
| HP:0009465 | 指の尺側偏位 | Frequent (79-30%) |
| HP:0100490 | 屈指 | Frequent (79-30%) |
| HP:0000028 | 停留精巣 | Occasional (29-5%) |
| HP:0000347 | 小顎 | Occasional (29-5%) |
| HP:0000365 | 難聴 | Occasional (29-5%) |
| HP:0000974 | 過伸展皮膚 | Occasional (29-5%) |
| HP:0002514 | 大脳石灰化 | Occasional (29-5%) |
| HP:0003042 | 肘脱臼 | Occasional (29-5%) |
| HP:0005692 | 関節過伸展 | Occasional (29-5%) |
| HP:0100761 | 内臓血管腫症 | Occasional (29-5%) |
合計: 18
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0002650 | 側弯 | 3 |
| HP:0002652 | 骨格異形成 | 3 |
| HP:0002947 | 頚椎後弯 | 3 |
| HP:0000926 | 扁平脊椎 | 2 |
| HP:0001234 | ヒッチハイカー母指 | 2 |
| HP:0001373 | 関節脱臼 | 2 |
| HP:0000268 | 長頭 | 1 |
| HP:0000347 | 小顎 | 1 |
| HP:0001155 | 手の異常 | 1 |
| HP:0001217 | ばち状化 | 1 |
| HP:0001298 | 脳症 | 1 |
| HP:0001513 | 肥満 | 1 |
| HP:0001883 | 尖足 | 1 |
| HP:0002445 | 四肢麻痺 | 1 |
| HP:0002808 | 後弯 | 1 |
| HP:0003099 | 腓骨過成長 | 1 |
| HP:0004565 | 重度の扁平脊椎 | 1 |
| HP:0009487 | 手の尺側偏位 | 1 |