| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 5 (4.0%) |
21389850 |
Familial 18p deletion syndrome and 18p partial trisomy inherited from a mother with balanced translocation. Koshy B, Mandal K, Srivastava VM, Loius PT, Danda S. Clin Dysmorphol. 2011;20(3):148-51. |
| 注意力欠陥多動性疾患 | ||
| トリソミー ヒト ヒト18番染色体 女 子供 成人 染色体欠失 男 表現型 | ||
| 5 (4.0%) |
10797432 |
Mosaic rearrangement of chromosome 18: characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin. Oner G, Jauch A, Eggermann T, Hardwick R, Kirsch S, Schiebel K, Rappold G, Robson L, Smith A. Am J Med Genet. 2000;92(2):101-6. |
| アトピー性皮膚炎 | ||
| アトピー性皮膚炎 デオキシリボ核酸 トリソミー ヒト ヒト14番染色体 ヒト18番染色体 モザイク現象 モノソミー 女 子供 成人 染色体異常 男 発話障害 聴覚消失 蛍光インサイツハイブリダイゼーション法 | ||
| 5 (4.0%) |
4018793 |
9p Trisomy/18p distal monosomy and multiple cutaneous leiomyomata. Another specific chromosomal site (18pter) in dominantly inherited multiple tumors? Fryns JP, Haspeslagh M, de Muelenaere A, van Den Berghe H. Hum Genet. 1985;70(3):284-6. |
| 多発性皮膚横紋筋腫 | ||
| トリソミー ヒト ヒト染色体16-18番 ヒト染色体6-12番とX染色体 優性遺伝子 多発性原発性腫瘍 女 平滑筋腫 成人 染色体欠失 皮膚癌 知的障害 | ||
| 5 (4.0%) |
3400732 |
Duplication 18p with mild influence on the phenotype. Johansson B, Mertens F, Palm L, Englesson I, Kristoffersson U. Am J Med Genet. 1988;29(4):871-4. |
| 耳介低位 | ||
| ヒト ヒト18番染色体 多重遺伝子族 女 子供 染色体検査 発話障害 表現型 |
合計: 29
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000233 | 薄い唇紅部縁 | Very frequent (99-80%) |
| HP:0000340 | 額傾斜 | Very frequent (99-80%) |
| HP:0000377 | 耳介の異常 | Very frequent (99-80%) |
| HP:0000384 | 耳介前皮膚肉柱 | Very frequent (99-80%) |
| HP:0000430 | 鼻翼未発達 | Very frequent (99-80%) |
| HP:0000431 | 幅広い鼻梁 | Very frequent (99-80%) |
| HP:0000506 | 内眼角外方偏位 | Very frequent (99-80%) |
| HP:0000581 | 眼瞼裂狭小 | Very frequent (99-80%) |
| HP:0000582 | 眼瞼裂斜上 | Very frequent (99-80%) |
| HP:0000601 | 両眼接近 | Very frequent (99-80%) |
| HP:0001256 | 知的障害, 軽度 | Very frequent (99-80%) |
| HP:0002021 | 幽門狭窄 | Very frequent (99-80%) |
| HP:0002553 | 高位の弓形眉毛 | Very frequent (99-80%) |
| HP:0002591 | 過食症 | Very frequent (99-80%) |
| HP:0007018 | 注意力欠陥多動性疾患 | Very frequent (99-80%) |
| HP:0008689 | 両側性停留精巣 | Very frequent (99-80%) |
| HP:0040199 | obsolete Flat midface | Very frequent (99-80%) |
| HP:0000160 | 狭い口 | Frequent (79-30%) |
| HP:0001167 | 指の異常 | Frequent (79-30%) |
| HP:0001760 | 足の異常 | Frequent (79-30%) |
| HP:0000252 | 小頭 | Occasional (29-5%) |
| HP:0000347 | 小顎 | Occasional (29-5%) |
| HP:0001319 | 新生児筋緊張低下 | Occasional (29-5%) |
| HP:0001511 | 子宮内成長遅滞 | Occasional (29-5%) |
| HP:0002564 | 心および大血管奇形 | Occasional (29-5%) |
| HP:0002705 | 高狭口蓋 | Occasional (29-5%) |
| HP:0004322 | 低身長 | Occasional (29-5%) |
| HP:0010628 | 顔面麻痺 | Occasional (29-5%) |
| HP:0030680 | Abnormality of cardiovascular system morphology | Occasional (29-5%) |
合計: 4
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0001249 | 知的障害 | 2 |
| HP:0000027 | 無精子症 | 1 |
| HP:0007437 | 多発性皮膚横紋筋腫 | 1 |
| HP:0011961 | 非閉塞性無精子症 | 1 |
合計: 0
| Gene Symbol | 遺伝子名 | Entrez Gene ID |
|---|