| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (32.7%) |
25007883 |
A new acro-osteolysis syndrome caused by duplications including PTHLH. Gray MJ, van Kogelenberg M, Beddow R, Morgan T, Wordsworth P, Shears DJ, Robertson SP, Hurst JA. J Hum Genet. 2014;59(9):484-7. |
| 骨格異形成 骨幹端軟骨異形成 | ||
| PTH PTH1R PTHLH | ||
| DNAコピー数多型 ハジュ・チーニー症候群 ヒト 先端骨溶解症 変異 女 男 症候群 遺伝子重複 | ||
| 2 (21.2%) |
15525660 |
Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. Duchatelet S, Ostergaard E, Cortes D, Lemainque A, Julier C. Hum Mol Genet. 2005;14(1):1-5. |
| 骨格異形成 | ||
| PTH PTH1R PTHLH | ||
| rs121434603 | ||
| I型副甲状腺ホルモン受容体 アミノ酸配列 ヒト 内軟骨腫症 劣性遺伝子 女 男 発達性骨疾患 遺伝性多発性外骨腫 配列欠損 |
合計: 23
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0002656 | 骨端異形成 | Very frequent (99-80%) |
| HP:0002829 | 関節痛 | Very frequent (99-80%) |
| HP:0006376 | 肘屈曲制限 | Very frequent (99-80%) |
| HP:0001169 | 幅広い手掌 | Frequent (79-30%) |
| HP:0001211 | 指尖の異常 | Frequent (79-30%) |
| HP:0001769 | 幅広い足 | Frequent (79-30%) |
| HP:0001773 | 短い足 | Frequent (79-30%) |
| HP:0001831 | 短い趾 | Frequent (79-30%) |
| HP:0002663 | 骨端骨化遅延 | Frequent (79-30%) |
| HP:0002753 | 薄い骨皮質 | Frequent (79-30%) |
| HP:0002967 | 外反肘 | Frequent (79-30%) |
| HP:0003025 | 骨幹端不規則性 | Frequent (79-30%) |
| HP:0003038 | 腓骨低形成 | Frequent (79-30%) |
| HP:0003170 | 寛骨臼の異常 | Frequent (79-30%) |
| HP:0003275 | 狭い骨盤 | Frequent (79-30%) |
| HP:0004279 | 短い手掌 | Frequent (79-30%) |
| HP:0004322 | 低身長 | Frequent (79-30%) |
| HP:0008800 | 股関節運動制限 | Frequent (79-30%) |
| HP:0008808 | 高い腸骨翼 | Frequent (79-30%) |
| HP:0009803 | 短い指骨 | Frequent (79-30%) |
| HP:0010305 | 仙骨欠損 | Frequent (79-30%) |
| HP:0011849 | 骨の骨化異常 | Frequent (79-30%) |
| HP:0100671 | 海綿骨形態異常 | Frequent (79-30%) |
合計: 2
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0002652 | 骨格異形成 | 2 |
| HP:0005871 | 骨幹端軟骨異形成 | 1 |