順位 (類似度) |
PMID (PMCID) |
|
---|---|---|
1 (39.0%) |
15211658 |
Growth hormone deficiency, anorectal agenesis, and brachycamptodactyly: a phenotype overlapping Stratton-Parker syndrome. Spadoni E, Castelnovi C, Maraschio P, Stacul E, Beluffi G, Bozzola M, Danesino C. Am J Med Genet A. 2004;128A(1):57-9. |
大槽拡大 | ||
GH1 | ||
ヒト 下垂体機能低下症 停留精巣 成長ホルモン 男 症候群 発達障害 直腸 表現型 | ||
1 (39.0%) |
8209896 |
Stratton-Parker syndrome: confirmation of a new entity. Gabrielli O, Carloni I, Catassi C, Natalini G, Coppa GV, Giorgi P. Am J Med Genet. 1994;49(3):333-6. |
ウォルム氏骨 | ||
GH1 | ||
ヒト 子供 心室中隔欠損症 成長ホルモン 成長障害 男 症候群 脳室 顔面 骨 |
合計: 25
HPO ID | 徴候・症状 | 頻度 |
---|---|---|
HP:0000028 | 停留精巣 | Very frequent (99-80%) |
HP:0000187 | 幅広い歯槽隆起 | Very frequent (99-80%) |
HP:0000218 | 高口蓋 | Very frequent (99-80%) |
HP:0000288 | 人中の異常 | Very frequent (99-80%) |
HP:0000347 | 小顎 | Very frequent (99-80%) |
HP:0000369 | 耳介低位 | Very frequent (99-80%) |
HP:0000431 | 幅広い鼻梁 | Very frequent (99-80%) |
HP:0000437 | 落ちくぼんだ鼻尖 | Very frequent (99-80%) |
HP:0000494 | 眼瞼裂斜下 | Very frequent (99-80%) |
HP:0000527 | 長い睫毛 | Very frequent (99-80%) |
HP:0000684 | 歯萌出遅延 | Very frequent (99-80%) |
HP:0000830 | 下垂体前葉機能低下症 | Very frequent (99-80%) |
HP:0001156 | 短指症候群 | Very frequent (99-80%) |
HP:0001257 | 痙性 | Very frequent (99-80%) |
HP:0001643 | 動脈管開存症 | Very frequent (99-80%) |
HP:0001651 | 右胸心 | Very frequent (99-80%) |
HP:0002023 | 鎖肛 | Very frequent (99-80%) |
HP:0002645 | ウォルム氏骨 | Very frequent (99-80%) |
HP:0004322 | 低身長 | Very frequent (99-80%) |
HP:0007477 | 異常な皮膚紋理 | Very frequent (99-80%) |
HP:0008678 | 腎低形成/無形成 | Very frequent (99-80%) |
HP:0009804 | 歯数の減少 number of teeth | Very frequent (99-80%) |
HP:0012854 | 中軸尿道下裂 | Very frequent (99-80%) |
HP:0100490 | 屈指 | Very frequent (99-80%) |
HP:0100543 | 認知障害 | Very frequent (99-80%) |
合計: 1
HPO ID | 徴候・症状 | 症例報告数 |
---|---|---|
HP:0000824 | 成長ホルモン欠乏症 | 1 |
合計: 0
Gene Symbol | 遺伝子名 | Entrez Gene ID |
---|