| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (17.5%) |
11515730 |
Transient neonatal diabetes mellitus in a child with paternal uniparental disomy of chromosome 6. Milenkovic T, Zdravkovic D, Gardner RJ, Ignjatovic M, Jankovic B. J Pediatr Endocrinol Metab. 2001;14(7):893-5. |
| 両眼隔離 臍ヘルニア | ||
| インスリン ヒト ヒト6番染色体 新生児 染色体異常 男 糖尿病 血糖 血糖降下薬 | ||
| 2 (4.0%) |
27909691 (5112232) |
6q24 Transient Neonatal Diabetes - How to Manage while Waiting for Genetic Results. Fudvoye J, Farhat K, De Halleux V, Nicolescu CR. Front Pediatr. 2016;4:124. |
| 高血糖 | ||
| INS | ||
| 2 (4.0%) |
20412110 |
Partial paternal uniparental disomy of chromosome 6 in monozygotic twins with transient neonatal diabetes mellitus and macroglossia. Suzuki S, Fujisawa D, Hashimoto K, Asano T, Maimaiti M, Matsuo K, Tanahashi Y, Mukai T, Fujieda K. Clin Genet. 2010;78(6):580-4. |
| 子宮内成長遅滞 | ||
| PLAGL1 | ||
| ヒト ヒト6番染色体 双子疾患 女 巨舌 新生児 片親性ダイソミー 糖尿病 | ||
| 2 (4.0%) |
9880447 |
Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus. Christian SL, Rich BH, Loebl C, Israel J, Vasa R, Kittikamron K, Spiro R, Rosenfield R, Ledbetter DH. J Pediatr. 1999;134(1):42-6. |
| 両眼隔離 | ||
| インスリン ヒト ヒト6番染色体 マイクロサテライト反復 女 新生児 男 異数性 糖尿病 遺伝子多型 |
合計: 30
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000028 | 停留精巣 | Very frequent (99-80%) |
| HP:0000065 | 陰唇肥大 | Very frequent (99-80%) |
| HP:0000158 | 巨舌 | Very frequent (99-80%) |
| HP:0000212 | 歯肉過成長 | Very frequent (99-80%) |
| HP:0000218 | 高口蓋 | Very frequent (99-80%) |
| HP:0000237 | 小さい大泉門 | Very frequent (99-80%) |
| HP:0000269 | 目立つ後頭 | Very frequent (99-80%) |
| HP:0000271 | 顔の異常 | Very frequent (99-80%) |
| HP:0000278 | 下顎後退 | Very frequent (99-80%) |
| HP:0000347 | 小顎 | Very frequent (99-80%) |
| HP:0000363 | 耳朶の異常 | Very frequent (99-80%) |
| HP:0000448 | 目立つ鼻 | Very frequent (99-80%) |
| HP:0000586 | 浅い眼窩 | Very frequent (99-80%) |
| HP:0000826 | 思春期早発 | Very frequent (99-80%) |
| HP:0000857 | 新生児インスリン依存性糖尿病 | Very frequent (99-80%) |
| HP:0001511 | 子宮内成長遅滞 | Very frequent (99-80%) |
| HP:0001537 | 臍ヘルニア | Very frequent (99-80%) |
| HP:0001562 | 羊水過少 | Very frequent (99-80%) |
| HP:0001629 | 心室中隔欠損 | Very frequent (99-80%) |
| HP:0001640 | 心拡大 | Very frequent (99-80%) |
| HP:0001804 | 指爪低形成 | Very frequent (99-80%) |
| HP:0001944 | 脱水 | Very frequent (99-80%) |
| HP:0002123 | 全身性ミオクローヌス発作 | Very frequent (99-80%) |
| HP:0002240 | 肝腫大 | Very frequent (99-80%) |
| HP:0002643 | 新生児呼吸窮迫 | Very frequent (99-80%) |
| HP:0008897 | 生後の成長遅滞 | Very frequent (99-80%) |
| HP:0001380 | 靭帯弛緩 | Occasional (29-5%) |
| HP:0001643 | 動脈管開存症 | Occasional (29-5%) |
| HP:0010866 | 腹壁欠損 | Occasional (29-5%) |
| HP:0100767 | 胎盤の異常 | Occasional (29-5%) |
合計: 0
| HPO ID | 徴候・症状 | 症例報告数 |
|---|