| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (58.0%) |
1642806 |
Familial occurrence of Summitt syndrome or a variant example of Carpenter syndrome? Pierquin G, Seligmann R, Van Regemorter N. Genet Couns. 1992;3(2):101-5. |
| 短指症候群 狭い上顎 落ちくぼんだ鼻梁 | ||
| ヒト 先端異形成症 女 子供 子供（未就学） 幼児 新生児 男 症候群 経過観察 肥満 | ||
| 2 (37.8%) |
474616 |
The Summitt syndrome: observations on a third case. Sells CJ, Hanson JW, Hall JG. Am J Med Genet. 1979;3(1):27-33. |
| 短指症候群 外反膝 | ||
| ATP6V0A2 | ||
| ヒト 先天性手変形 先天性足変形 子供 男 症候群 肥満 頭蓋縫合早期癒合症 | ||
| 3 (31.0%) |
3322002 |
Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes. Cohen DM, Green JG, Miller J, Gorlin RJ, Reed JA. Am J Med Genet. 1987;28(2):311-24. |
| 合指趾症 | ||
| rs121908171 | ||
| Terminology as Topic ヒト 先端異形成症 女 成人 症候群 |
合計: 20
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000098 | 高身長 | Very frequent (99-80%) |
| HP:0000256 | 大頭 | Very frequent (99-80%) |
| HP:0000275 | 狭い顔 | Very frequent (99-80%) |
| HP:0000286 | 内眼角贅皮 | Very frequent (99-80%) |
| HP:0000316 | 両眼隔離 | Very frequent (99-80%) |
| HP:0001156 | 短指症候群 | Very frequent (99-80%) |
| HP:0001357 | 斜頭 | Very frequent (99-80%) |
| HP:0001363 | Craniosynostosis | Very frequent (99-80%) |
| HP:0001513 | 肥満 | Very frequent (99-80%) |
| HP:0002857 | 外反膝 | Very frequent (99-80%) |
| HP:0004209 | 第5指弯指 | Very frequent (99-80%) |
| HP:0004279 | 短い手掌 | Very frequent (99-80%) |
| HP:0005487 | 目立つ前頭縫合隆起 | Very frequent (99-80%) |
| HP:0006101 | 合指症 | Very frequent (99-80%) |
| HP:0000445 | 幅広い鼻 | Frequent (79-30%) |
| HP:0000457 | 落ちくぼんだ鼻梁 | Frequent (79-30%) |
| HP:0000486 | 斜視 | Frequent (79-30%) |
| HP:0001249 | 知的障害 | Occasional (29-5%) |
| HP:0010044 | 短い第4中手骨 | Occasional (29-5%) |
| HP:0100490 | 屈指 | 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 |
|---|