順位 (類似度) |
PMID (PMCID) |
---|
|
合計: 32
HPO ID | 徴候・症状 | 頻度 |
---|---|---|
HP:0000248 | 短頭 | Very frequent (99-80%) |
HP:0000252 | 小頭 | 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:0000506 | 内眼角外方偏位 | Very frequent (99-80%) |
HP:0000668 | 減歯症 | Very frequent (99-80%) |
HP:0001276 | 筋緊張亢進 | Very frequent (99-80%) |
HP:0002006 | 顔面裂 | Very frequent (99-80%) |
HP:0002007 | 前頭突出, 額突出 | Very frequent (99-80%) |
HP:0002558 | 副甲状腺乳頭 | Very frequent (99-80%) |
HP:0002650 | 側弯 | Very frequent (99-80%) |
HP:0007477 | 異常な皮膚紋理 | Very frequent (99-80%) |
HP:0007598 | 両側性単一手掌横線 | Very frequent (99-80%) |
HP:0009748 | 大きな耳朶 | Very frequent (99-80%) |
HP:0010751 | 下顎小孔 | Very frequent (99-80%) |
HP:0011304 | 幅広い母指 | Very frequent (99-80%) |
HP:0100022 | 運動の異常 | Very frequent (99-80%) |
HP:0100543 | 認知障害 | Very frequent (99-80%) |
HP:0100720 | 耳軟骨低形成 | Very frequent (99-80%) |
HP:0000174 | 口蓋の異常 | Frequent (79-30%) |
HP:0000303 | 下顎突出 | Frequent (79-30%) |
HP:0000324 | 顔面非対称 | Frequent (79-30%) |
HP:0000384 | 耳介前皮膚肉柱 | Frequent (79-30%) |
HP:0000486 | 斜視 | Frequent (79-30%) |
HP:0000568 | 小眼球 | Frequent (79-30%) |
HP:0000592 | 青色強膜 | Frequent (79-30%) |
HP:0000612 | コロボーマ | Frequent (79-30%) |
HP:0000765 | 胸郭の異常 | Frequent (79-30%) |
HP:0001182 | 先細りの指 | Frequent (79-30%) |
HP:0001250 | 発作 | Frequent (79-30%) |
HP:0100267 | 口唇小孔 | Frequent (79-30%) |
HP:0100490 | 屈指 | Frequent (79-30%) |
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 |
---|