| 順位 （類似度） |
PMID (PMCID) |
|---|
|
|
合計: 41
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000815 | 高ゴナドトロピン性性腺機能低下症 | Obligate (100%) |
| HP:0002293 | 頭髪禿頭 | Obligate (100%) |
| HP:0008193 | 原発性性腺不全 | Obligate (100%) |
| HP:0000028 | 停留精巣 | Very frequent (99-80%) |
| HP:0000219 | 薄い上口唇唇紅部 | Very frequent (99-80%) |
| HP:0000534 | 眉毛の異常 | Very frequent (99-80%) |
| HP:0000786 | 原発性無月経 | Very frequent (99-80%) |
| HP:0000789 | 不妊 | Very frequent (99-80%) |
| HP:0000802 | インポテンス | Very frequent (99-80%) |
| HP:0000823 | 思春期遅発 | Very frequent (99-80%) |
| HP:0000837 | ゴナドトロピン過剰症 | Very frequent (99-80%) |
| HP:0000938 | 骨減少症 | Very frequent (99-80%) |
| HP:0000939 | 骨粗鬆症 | Very frequent (99-80%) |
| HP:0001510 | 成長遅滞 | Very frequent (99-80%) |
| HP:0001596 | 禿頭 | Very frequent (99-80%) |
| HP:0003187 | 乳房低形成 | Very frequent (99-80%) |
| HP:0003799 | 著明な骨年齢遅延 | Very frequent (99-80%) |
| HP:0005469 | 平坦な後頭 | Very frequent (99-80%) |
| HP:0007464 | 疎な顔毛 | Very frequent (99-80%) |
| HP:0008187 | 二次性徴欠損 | Very frequent (99-80%) |
| HP:0008214 | 血清エストラジオール減少 | Very frequent (99-80%) |
| HP:0008230 | 男性でのテストステロン減少 | Very frequent (99-80%) |
| HP:0008633 | 生殖組織欠損 | Very frequent (99-80%) |
| HP:0008684 | 子宮無形成/低形成 | Very frequent (99-80%) |
| HP:0010463 | 卵巣無形成 | Very frequent (99-80%) |
| HP:0010464 | 索状卵巣 | Very frequent (99-80%) |
| HP:0011961 | 非閉塞性無精子症 | Very frequent (99-80%) |
| HP:0000252 | 小頭 | Frequent (79-30%) |
| HP:0000535 | 疎な眉毛 | Frequent (79-30%) |
| HP:0001256 | 知的障害, 軽度 | Frequent (79-30%) |
| HP:0002225 | 疎な恥毛 | Frequent (79-30%) |
| HP:0002652 | 骨格異形成 | Frequent (79-30%) |
| HP:0002808 | 後弯 | Frequent (79-30%) |
| HP:0002938 | 腰椎前弯 hyperlordosis | Frequent (79-30%) |
| HP:0000365 | 難聴 | Occasional (29-5%) |
| HP:0001199 | 三指節母指 | Occasional (29-5%) |
| HP:0003393 | 母指球筋萎縮 | Occasional (29-5%) |
| HP:0006184 | 手掌屈曲線減少 | Occasional (29-5%) |
| HP:0009185 | 第5指近位指間(PIP)関節拘縮 | Occasional (29-5%) |
| HP:0010487 | 小さい小指球隆起 | Occasional (29-5%) |
| HP:0012506 | 小さい下垂体 | Occasional (29-5%) |
合計: 0
| HPO ID | 徴候・症状 | 症例報告数 |
|---|
合計: 0
| Gene Symbol | 遺伝子名 | Entrez Gene ID |
|---|