| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (37.2%) |
2596519 |
Ambiguous genitalia associated with skeletal abnormalities, cutis laxa, craniostenosis, psychomotor retardation, and facial abnormalities (SCARF syndrome). Koppe R, Kaplan P, Hunter A, MacMurray B. Am J Med Genet. 1989;34(3):305-12. |
| 翼状頚 はと胸 | ||
| ヒト 劣性遺伝子 新生児 男 男性生殖器 症候群 皮膚弛緩症 知的障害 顔面 骨 |
合計: 32
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000023 | 鼠径ヘルニア | Frequent (79-30%) |
| HP:0000028 | 停留精巣 | Frequent (79-30%) |
| HP:0000048 | 二分陰嚢 | Frequent (79-30%) |
| HP:0000051 | 会陰尿道下裂 | Frequent (79-30%) |
| HP:0000054 | 小陰茎 | Frequent (79-30%) |
| HP:0000280 | 粗な顔貌 | Frequent (79-30%) |
| HP:0000286 | 内眼角贅皮 | Frequent (79-30%) |
| HP:0000343 | 長い人中 | Frequent (79-30%) |
| HP:0000368 | 低位の後方回転した耳介 | Frequent (79-30%) |
| HP:0000465 | 翼状頚 | Frequent (79-30%) |
| HP:0000470 | 短い頸部 | Frequent (79-30%) |
| HP:0000486 | 斜視 | Frequent (79-30%) |
| HP:0000494 | 眼瞼裂斜下 | Frequent (79-30%) |
| HP:0000508 | 眼瞼下垂 | Frequent (79-30%) |
| HP:0000768 | はと胸 | Frequent (79-30%) |
| HP:0000879 | 短い胸骨 | Frequent (79-30%) |
| HP:0000973 | 弛緩性皮膚 | Frequent (79-30%) |
| HP:0001256 | 知的障害, 軽度 | Frequent (79-30%) |
| HP:0001363 | Craniosynostosis | Frequent (79-30%) |
| HP:0001537 | 臍ヘルニア | Frequent (79-30%) |
| HP:0001540 | 腹直筋離開 | Frequent (79-30%) |
| HP:0002162 | 後部毛髪線低位 | Frequent (79-30%) |
| HP:0003312 | 椎体骨形態異常 | Frequent (79-30%) |
| HP:0005692 | 関節過伸展 | Frequent (79-30%) |
| HP:0006297 | 歯エナメル質低形成 | Frequent (79-30%) |
| HP:0006610 | 幅広い乳頭間距離 | Frequent (79-30%) |
| HP:0008070 | 疎な毛髪 | Frequent (79-30%) |
| HP:0011084 | 歯エナメル質低石灰化 | Frequent (79-30%) |
| HP:0012028 | 肝細胞腺腫 | Frequent (79-30%) |
| HP:0012810 | 幅広い鼻基部 | Frequent (79-30%) |
| HP:0002342 | 知的障害, 中等度 | Occasional (29-5%) |
| HP:0002557 | 乳頭低形成 | Occasional (29-5%) |
合計: 2
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0000062 | 性別不明の外性器 | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
合計: 0
| Gene Symbol | 遺伝子名 | Entrez Gene ID |
|---|