| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (21.2%) |
894410 |
The Lenz-Majewski hyperostotic dwarfism. A syndrome of multiple congenital anomalies, mental retardation, and progressive skeletal sclerosis. Robinow M, Johanson AJ, Smith TH. J Pediatr. 1977;91(3):417-21. |
| 骨格異形成 | ||
| ヒト 低身長症 子供（未就学） 男 症候群 発達性骨疾患 知的障害 硬化症 |
合計: 58
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000239 | 大きな泉門 | Very frequent (99-80%) |
| HP:0000256 | 大頭 | Very frequent (99-80%) |
| HP:0000270 | 頭蓋骨縫合閉鎖遅延 | Very frequent (99-80%) |
| HP:0000303 | 下顎突出 | Very frequent (99-80%) |
| HP:0000316 | 両眼隔離 | Very frequent (99-80%) |
| HP:0000337 | 幅広い額 | Very frequent (99-80%) |
| HP:0000400 | 大耳 | Very frequent (99-80%) |
| HP:0000453 | 後鼻孔閉鎖 | Very frequent (99-80%) |
| HP:0000682 | 歯エナメル質異常 | Very frequent (99-80%) |
| HP:0000944 | 骨幹端の異常 | Very frequent (99-80%) |
| HP:0001156 | 短指症候群 | Very frequent (99-80%) |
| HP:0001249 | 知的障害 | Very frequent (99-80%) |
| HP:0001263 | 全般性発達遅滞 | Very frequent (99-80%) |
| HP:0001328 | 特異的学習障害 | Very frequent (99-80%) |
| HP:0001582 | 過剰な皮膚 | Very frequent (99-80%) |
| HP:0002684 | 分厚い頭蓋冠 | Very frequent (99-80%) |
| HP:0002750 | 骨格骨化遅延 | Very frequent (99-80%) |
| HP:0003103 | 骨皮質形態異常 | Very frequent (99-80%) |
| HP:0003510 | 重度の低身長 | Very frequent (99-80%) |
| HP:0004279 | 短い手掌 | Very frequent (99-80%) |
| HP:0004437 | 頭蓋骨過骨症 | Very frequent (99-80%) |
| HP:0005465 | 顔面過骨症 | Very frequent (99-80%) |
| HP:0005692 | 関節過伸展 | Very frequent (99-80%) |
| HP:0006101 | 合指症 | Very frequent (99-80%) |
| HP:0006660 | 鎖骨無形成 | Very frequent (99-80%) |
| HP:0007495 | 早老外観 | Very frequent (99-80%) |
| HP:0008065 | 皮膚無形成/低形成 | 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:0011002 | 大理石骨症 | Very frequent (99-80%) |
| HP:0000023 | 鼠径ヘルニア | Frequent (79-30%) |
| HP:0000028 | 停留精巣 | Frequent (79-30%) |
| HP:0000036 | 陰茎異常 | Frequent (79-30%) |
| HP:0000039 | 尿道上裂 | Frequent (79-30%) |
| HP:0000047 | 尿道下裂 | Frequent (79-30%) |
| HP:0000154 | 幅広い口 | Frequent (79-30%) |
| HP:0000614 | 鼻涙管の異常 | Frequent (79-30%) |
| HP:0001163 | 中手骨の異常 | Frequent (79-30%) |
| HP:0001167 | 指の異常 | Frequent (79-30%) |
| HP:0003070 | 肘強直 | Frequent (79-30%) |
| HP:0010628 | 顔面麻痺 | Frequent (79-30%) |
| HP:0012471 | 分厚い唇紅部縁 | Frequent (79-30%) |
| HP:0100541 | 大腿ヘルニア | Frequent (79-30%) |
| HP:0000135 | 性腺機能低下症 | Occasional (29-5%) |
| HP:0000175 | 口蓋裂 | Occasional (29-5%) |
| HP:0000176 | 粘膜下硬口蓋裂 | Occasional (29-5%) |
| HP:0000193 | 二分した口蓋垂 | Occasional (29-5%) |
| HP:0000238 | 水頭症 | Occasional (29-5%) |
| HP:0001252 | 筋緊張低下 | Occasional (29-5%) |
| HP:0001274 | 脳梁無発生 | Occasional (29-5%) |
| HP:0001331 | 透明中隔欠損 | Occasional (29-5%) |
| HP:0001376 | 関節運動制限 | Occasional (29-5%) |
| HP:0001804 | 指爪低形成 | Occasional (29-5%) |
| HP:0001812 | 凸の指爪 | Occasional (29-5%) |
| HP:0002650 | 側弯 | Occasional (29-5%) |
| HP:0002705 | 高狭口蓋 | Occasional (29-5%) |
| HP:0002808 | 後弯 | Occasional (29-5%) |
| HP:0003241 | 外性器低形成 | Occasional (29-5%) |
合計: 0
| HPO ID | 徴候・症状 | 症例報告数 |
|---|