順位 (類似度) |
PMID (PMCID) |
|
---|---|---|
1 (4.0%) |
22229330 |
Conradi-Hunermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects). Arnold AW, Bruckner-Tuderman L, Has C, Happle R. Br J Dermatol. 2012;166(6):1309-13. |
錯乱 | ||
EBP | ||
c|SUB|C|33|A p|SUB|Y|11|X rs878854358 | ||
Abbreviations as Topic X連鎖遺伝病 ステロイド異性化酵素 ナンセンスコドン ヒト 子供 点状軟骨異形成症 男 症候群 相補DNA 表現型 鑑別診断 |
合計: 45
HPO ID | 徴候・症状 | 頻度 |
---|---|---|
HP:0003462 | 8-dehydrocholesterol 上昇 | Very frequent (99-80%) |
HP:0003465 | 8(9)-cholestenol 上昇 | Very frequent (99-80%) |
HP:0000028 | 停留精巣 | Frequent (79-30%) |
HP:0000218 | 高口蓋 | Frequent (79-30%) |
HP:0000238 | 水頭症 | Frequent (79-30%) |
HP:0000260 | 幅広い大泉門 | Frequent (79-30%) |
HP:0000316 | 両眼隔離 | Frequent (79-30%) |
HP:0000347 | 小顎 | Frequent (79-30%) |
HP:0000369 | 耳介低位 | Frequent (79-30%) |
HP:0000422 | 鼻梁の異常 | Frequent (79-30%) |
HP:0000426 | 目立つ鼻梁 | Frequent (79-30%) |
HP:0000472 | 長い頸部 | Frequent (79-30%) |
HP:0000474 | 分厚い後部皮膚ヒダ | Frequent (79-30%) |
HP:0000506 | 内眼角外方偏位 | Frequent (79-30%) |
HP:0000518 | 白内障 | Frequent (79-30%) |
HP:0000568 | 小眼球 | Frequent (79-30%) |
HP:0000582 | 眼瞼裂斜上 | Frequent (79-30%) |
HP:0000960 | 仙骨部陥凹 | Frequent (79-30%) |
HP:0001161 | 多指症 | Frequent (79-30%) |
HP:0001249 | 知的障害 | Frequent (79-30%) |
HP:0001250 | 発作 | Frequent (79-30%) |
HP:0001263 | 全般性発達遅滞 | Frequent (79-30%) |
HP:0001290 | 全身性筋緊張低下 | Frequent (79-30%) |
HP:0001305 | Dandy-Walker 奇形 | Frequent (79-30%) |
HP:0001508 | 成長障害 (成長不全) | Frequent (79-30%) |
HP:0001650 | 大動脈弁狭窄 | Frequent (79-30%) |
HP:0001845 | 趾の重なり | Frequent (79-30%) |
HP:0002079 | 脳梁低形成 | Frequent (79-30%) |
HP:0002509 | 四肢筋緊張亢進 | Frequent (79-30%) |
HP:0002808 | 後弯 | Frequent (79-30%) |
HP:0004322 | 低身長 | Frequent (79-30%) |
HP:0004691 | 第2-3 合趾症 | Frequent (79-30%) |
HP:0005590 | 斑状低色素 | Frequent (79-30%) |
HP:0006958 | 異常な聴性誘発反応 | Frequent (79-30%) |
HP:0008064 | 魚鱗癬 | Frequent (79-30%) |
HP:0009941 | 口非対称 | Frequent (79-30%) |
HP:0010055 | 幅広い母趾 | Frequent (79-30%) |
HP:0010557 | 指の重なり | Frequent (79-30%) |
HP:0011800 | 顔面中部後退 | Frequent (79-30%) |
HP:0012433 | 異常な社会的行動 | Frequent (79-30%) |
HP:0100807 | 長い指 | Frequent (79-30%) |
HP:0000175 | 口蓋裂 | Occasional (29-5%) |
HP:0000718 | 攻撃的行動 | Occasional (29-5%) |
HP:0000752 | 多動 | Occasional (29-5%) |
HP:0001627 | 心形態の異常 | Occasional (29-5%) |
合計: 0
HPO ID | 徴候・症状 | 症例報告数 |
---|