| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (40.2%) |
9605592 |
Craniometadiaphyseal dysplasia, wormian bone type. Santolaya JM, Hall CM, Garcia-Minaur S, Delgado A. Am J Med Genet. 1998;77(3):241-5. |
| ウォルム氏骨 目立つ額 | ||
| ヒト 劣性遺伝子 子供（未就学） 男 脚骨 頭蓋顔面奇形 骨 | ||
| 2 (39.0%) |
2000503 |
Radiographic features of craniometadiaphyseal dysplasia, wormian bone type. Langer LO Jr, Brill PW, Afshani E, Williams CA, Thomas IT, Frias JL. Skeletal Radiol. 1991;20(1):37-41. |
| ウォルム氏骨 | ||
| ヒト 劣性遺伝子 女 子供 男 発達性骨疾患 |
合計: 26
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000218 | 高口蓋 | Very frequent (99-80%) |
| HP:0000242 | 頭頂突出 | Very frequent (99-80%) |
| HP:0000256 | 大頭 | Very frequent (99-80%) |
| HP:0000260 | 幅広い大泉門 | Very frequent (99-80%) |
| HP:0000272 | 平坦な頬 | Very frequent (99-80%) |
| HP:0000347 | 小顎 | Very frequent (99-80%) |
| HP:0000494 | 眼瞼裂斜下 | Very frequent (99-80%) |
| HP:0000520 | 眼球突出 | Very frequent (99-80%) |
| HP:0000885 | 幅広い肋骨 | Very frequent (99-80%) |
| HP:0000938 | 骨減少症 | Very frequent (99-80%) |
| HP:0000940 | 骨幹形態異常 | Very frequent (99-80%) |
| HP:0001248 | 短い長管骨 (手) | Very frequent (99-80%) |
| HP:0001760 | 足の異常 | Very frequent (99-80%) |
| HP:0002212 | カール毛 | Very frequent (99-80%) |
| HP:0002645 | ウォルム氏骨 | Very frequent (99-80%) |
| HP:0002673 | 外反股 | Very frequent (99-80%) |
| HP:0002703 | 頭蓋骨骨化の異常 | Very frequent (99-80%) |
| HP:0002753 | 薄い骨皮質 | Very frequent (99-80%) |
| HP:0005446 | 下顎鈍角 | Very frequent (99-80%) |
| HP:0006391 | 長管骨の過剰管状化 | Very frequent (99-80%) |
| HP:0006429 | 幅広い大腿骨頸部 | Very frequent (99-80%) |
| HP:0008438 | 椎弓奇形 | Very frequent (99-80%) |
| HP:0009911 | 側頭骨の異常 | Very frequent (99-80%) |
| HP:0010539 | 薄い頭蓋冠 | Very frequent (99-80%) |
| HP:0011001 | 骨ミネラル濃度の増加 | Very frequent (99-80%) |
| HP:0011220 | 目立つ額 | Very frequent (99-80%) |
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 |
|---|