| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (60.1%) |
10482874 |
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): presentation in two unrelated patients in the United States. Smith W, Ji HP, Mouradian W, Pagon RA. Am J Med Genet. 1999;86(3):245-52. |
| 卵形の顔 長い人中 先細りの指 後側弯 | ||
| United States ヒト 劣性遺伝子 女 子供 幼児 男 表現型 関節不安定 骨軟骨異形成症 | ||
| 2 (52.7%) |
8588592 |
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): clinical and radiological findings in a Guatemalan patient. Bradburn JM, Hall BD. Am J Med Genet. 1995;59(2):234-7. |
| 卵形の顔 はと胸 短指症候群 | ||
| Guatemala ヒト 中手 女 子供（未就学） 関節不安定 顔面 骨軟骨異形成症 | ||
| 3 (39.2%) |
27245527 |
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type): A unique South African disorder. Honey EM. S Afr Med J. 2016;106(6 Suppl 1):S54-6. |
| Pierre-Robin シークェンス 骨格異形成 | ||
| B3GALT6 | ||
| South Africa ガラクトース転移酵素 ヒト 先天性異常 変異 女 子供（未就学） 幼児 腎疾患 腎臓 関節不安定 骨軟骨異形成症 | ||
| 4 (21.2%) |
18841068 |
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review. Sulko J, Kozlowski K. J Pediatr Orthop B. 2008;17(6):323-7. |
| 脊椎骨端骨幹端異形成 | ||
| エーラース・ダンロス症候群 ヒト 低身長症 女 子供 鑑別診断 関節不安定 骨 骨軟骨異形成症 | ||
| 4 (21.2%) |
12784311 |
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). Tsirikos AI, Mason DE, Scott CI Jr, Chang WN. Am J Med Genet A. 2003;119A(3):386-90. |
| 骨格異形成 | ||
| ヒト 低身長症 女 幼児 成人 経過観察 関節不安定 骨軟骨異形成症 | ||
| 4 (21.2%) |
8669438 |
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): a Brazilian case. Pina-Neto JM, Defino HL, Guedes ML, Jorge SM. Am J Med Genet. 1996;61(2):131-3. |
| 関節脱臼 | ||
| Brazil ヒト 低身長症 劣性遺伝子 女 子供（未就学） 関節不安定 骨軟骨異形成症 | ||
| 7 (4.0%) |
29230159 |
Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations. Trejo P, Rauch F, Glorieux FH, Ouellet J, Benaroch T, Campeau PM. Mol Syndromol. 2017;8(6):303-307. |
| 低身長 | ||
| B3GALT6 | ||
| c|DUP|901_921|| c|SUB|C|511|T;RS#:765337103 | ||
| 7 (4.0%) |
25149931 |
A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea. Sellars EA, Bosanko KA, Lepard T, Garnica A, Schaefer GB. Semin Pediatr Neurol. 2014;21(2):84-7. |
| 角膜硬化 | ||
| ガラクトース転移酵素 ヒト 新生児 男 致死的転帰 角膜 角膜疾患 関節疾患 骨 |
合計: 32
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000343 | 長い人中 | Very frequent (99-80%) |
| HP:0000520 | 眼球突出 | Very frequent (99-80%) |
| HP:0000592 | 青色強膜 | Very frequent (99-80%) |
| HP:0000926 | 扁平脊椎 | Very frequent (99-80%) |
| HP:0000944 | 骨幹端の異常 | Very frequent (99-80%) |
| HP:0000974 | 過伸展皮膚 | Very frequent (99-80%) |
| HP:0001373 | 関節脱臼 | Very frequent (99-80%) |
| HP:0001762 | 内反尖足 | Very frequent (99-80%) |
| HP:0001773 | 短い足 | Very frequent (99-80%) |
| HP:0002650 | 側弯 | Very frequent (99-80%) |
| HP:0002651 | 脊椎骨端骨幹端異形成 | Very frequent (99-80%) |
| HP:0002652 | 骨格異形成 | Very frequent (99-80%) |
| HP:0002808 | 後弯 | Very frequent (99-80%) |
| HP:0002827 | 股関節脱臼 | Very frequent (99-80%) |
| HP:0002983 | 小肢症 | Very frequent (99-80%) |
| HP:0003042 | 肘脱臼 | Very frequent (99-80%) |
| HP:0004279 | 短い手掌 | Very frequent (99-80%) |
| HP:0004322 | 低身長 | Very frequent (99-80%) |
| HP:0005692 | 関節過伸展 | Very frequent (99-80%) |
| HP:0005930 | 骨端の異常 | Very frequent (99-80%) |
| HP:0011849 | 骨の骨化異常 | Very frequent (99-80%) |
| HP:0100866 | 短い腸骨 | Very frequent (99-80%) |
| HP:0000175 | 口蓋裂 | Frequent (79-30%) |
| HP:0000218 | 高口蓋 | Frequent (79-30%) |
| HP:0003307 | 前弯 | Frequent (79-30%) |
| HP:0000545 | 近視 | Occasional (29-5%) |
| HP:0001083 | 異所性水晶体 | Occasional (29-5%) |
| HP:0001249 | 知的障害 | Occasional (29-5%) |
| HP:0001263 | 全般性発達遅滞 | Occasional (29-5%) |
| HP:0001671 | 心中隔 | Occasional (29-5%) |
| HP:0002251 | 無神経節性巨大結腸 | Occasional (29-5%) |
| HP:0100777 | 外骨症 | Occasional (29-5%) |
合計: 3
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0002652 | 骨格異形成 | 2 |
| HP:0001373 | 関節脱臼 | 1 |
| HP:0002651 | 脊椎骨端骨幹端異形成 | 1 |