| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (69.7%) |
24715367 |
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. Isidor B, Lefebvre T, Le Vaillant C, Caillaud G, Faivre L, Jossic F, Joubert M, Winer N, Le Caignec C, Borck G, Pelet A, Amiel J, Toutain A, Ronce N, Raynaud M, Verloes A, David A. Am J Med Genet A. 2014;164A(7):1821-5. |
| 眼瞼裂狭小 短い上腕骨 | ||
| KAT6B KIF1BP MED12 | ||
| c|SUB|G|3443|A;RS#:387907360 p|SUB|R|1148|H;RS#:387907360 rs387907360 | ||
| ヒト ヒルシュスプルング病 メディエータ複合体 同胞 変異 新生児 男 症候群 発達障害 瞼裂縮小 表現型 遺伝子関連解析 | ||
| 2 (58.9%) |
16700052 |
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens R, Gillerot Y, Heron D, Heron B, Benzacken B, Lacombe D, Brunner H, Bitoun P. Am J Med Genet A. 2006;140(12):1285-96. |
| 小頭 三角形の顔 眼瞼裂狭小 内転母指 | ||
| rs1292888378 rs1369442321 rs1556334519 rs1556334793 rs1556336534 rs1556337063 rs1556338747 rs1556340124 rs387907360 rs748064846 rs769232520 rs863223696 | ||
| X連鎖遺伝病 ヒト ヒトX染色体 劣性遺伝子 女 子供 子供（未就学） 幼児 時間因子 甲状腺機能低下症 男 症候群 瞼裂縮小 知的障害 経過観察 致死的転帰 | ||
| 3 (44.7%) |
7519949 |
Blepharophimosis, ptosis and mental retardation: further delineation of Ohdo syndrome. Melnyk AR. Clin Dysmorphol. 1994;3(2):121-4. |
| 小頭 眼瞼裂狭小 | ||
| ヒト 女 小頭症 幼児 症候群 発達障害 眼瞼下垂 瞼裂縮小 知的障害 | ||
| 4 (39.0%) |
26338144 |
Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum. Langley KG, Brown J, Gerber RJ, Fox J, Friez MJ, Lyons M, Schrier Vergano SA. Am J Med Genet A. 2015;167A(12):3180-5. |
| 小頭 | ||
| MED12 | ||
| c|SUB|G|4147|A;RS#:863223696 p|SUB|A|1383|T;RS#:863223696 | ||
| X連鎖遺伝子 ヒト ミスセンス変異 メディエータ複合体 先天性心疾患 子供 幼児 成人 男 眼瞼下垂 瞼裂縮小 知的障害 筋萎縮症 筋過緊張 表現型 頭蓋顔面奇形 | ||
| 5 (35.4%) |
10422013 |
Unknown syndrome in two male sibs with hypotonia, ptosis, hand malformations, 2/3 toes syndactyly, and mental retardation. Megarbane A, Farah CB, Nabbout R. Genet Couns. 1999;10(2):183-8. |
| 眼瞼下垂 第2-3 合趾症 Finger clinodactyly | ||
| ヒト 先天性手変形 合指症 女 子供（未就学） 男 症候群 眼瞼下垂 知的障害 精神運動障害 鑑別診断 | ||
| 6 (31.0%) |
30739122 |
Chronic Otitis Media Associated with Cholesteatoma in a Case of the Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome. Galletti B, Gazia F, Freni F, Nicita RA, Bruno R, Galletti F. Am J Case Rep. 2019;20:175-178. |
| 慢性中耳炎 軸後性多指趾症 | ||
| ヒト 中耳炎 先天性心疾患 先天性甲状腺機能低下症 子供 希少疾患 男 真珠腫性中耳炎 瞼裂縮小 知的障害 磁気共鳴画像法 関節不安定 顔貌 | ||
| 7 (30.8%) |
12868473 |
Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition. White SM, Ades LC, Amor D, Liebelt J, Bankier A, Baker E, Wilson M, Savarirayan R. Clin Dysmorphol. 2003;12(2):109-13. |
| 難聴 眼瞼裂狭小 | ||
| ヒト 子供（未就学） 幼児 新生児 男 眼瞼下垂 瞼裂縮小 知的障害 | ||
| 7 (30.8%) |
10955481 |
A boy with mental retardation, blepharophimosis and hypothyroidism: a diagnostic dilemma between Young-Simpson and Ohdo syndrome. Marques-de-faria AP, Maciel-Guerra AT, Junior GG, Baptista MT. Clin Dysmorphol. 2000;9(3):199-204. |
| 眼瞼裂狭小 | ||
| ヒト 幼児 甲状腺機能低下症 男 症候群 瞼裂縮小 知的障害 鑑別診断 | ||
| 7 (30.8%) |
10706355 |
Growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia: confirmation of the ROCA-Wiedemann syndrome. Zampino G, Balducci F, Mariotti P, Dickmann A, Mastroiacovo P. Am J Med Genet. 2000;90(5):358-60. |
| 内眼角贅皮 | ||
| ヒト 先天性心疾患 女 幼児 成長障害 症候群 眼瞼下垂 知的障害 鎖肛 | ||
| 7 (30.8%) |
10631927 |
Congenital blepharophimosis and ptosis in a mentally retarded girl: a new case of Ohdo syndrome? Stoll C. Genet Couns. 1999;10(4):383-7. |
| 眼瞼下垂 眼瞼裂狭小 | ||
| ヒト 女 子供（未就学） 症候群 瞼裂縮小 知的障害 |
合計: 26
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000028 | 停留精巣 | Very frequent (99-80%) |
| HP:0000046 | 陰嚢低形成 | Very frequent (99-80%) |
| HP:0000093 | 蛋白尿 | Very frequent (99-80%) |
| HP:0000252 | 小頭 | Very frequent (99-80%) |
| HP:0000356 | 外耳の異常 | Very frequent (99-80%) |
| HP:0000365 | 難聴 | Very frequent (99-80%) |
| HP:0000403 | 反復性中耳炎 | Very frequent (99-80%) |
| HP:0000508 | 眼瞼下垂 | Very frequent (99-80%) |
| HP:0000568 | 小眼球 | Very frequent (99-80%) |
| HP:0000581 | 眼瞼裂狭小 | Very frequent (99-80%) |
| HP:0000646 | 弱視 | Very frequent (99-80%) |
| HP:0000685 | 歯低形成 | Very frequent (99-80%) |
| HP:0000687 | 歯間隔離 | Very frequent (99-80%) |
| HP:0000691 | 小歯 | Very frequent (99-80%) |
| HP:0000750 | 発語および言語発達遅延 | Very frequent (99-80%) |
| HP:0001018 | 手掌皮膚紋理異常 | Very frequent (99-80%) |
| HP:0001256 | 知的障害, 軽度 | Very frequent (99-80%) |
| HP:0001270 | 運動発達遅滞 | Very frequent (99-80%) |
| HP:0001511 | 子宮内成長遅滞 | Very frequent (99-80%) |
| HP:0008551 | 小耳 | Very frequent (99-80%) |
| HP:0008897 | 生後の成長遅滞 | Very frequent (99-80%) |
| HP:0030148 | Heart murmur | Very frequent (99-80%) |
| HP:0000175 | 口蓋裂 | Frequent (79-30%) |
| HP:0001631 | 心房中隔欠損 | Frequent (79-30%) |
| HP:0012619 | 多発性膀胱憩室 | Frequent (79-30%) |
| HP:0012768 | 新生児仮死 | Frequent (79-30%) |
合計: 13
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0000581 | 眼瞼裂狭小 | 7 |
| HP:0000508 | 眼瞼下垂 | 4 |
| HP:0000252 | 小頭 | 2 |
| HP:0000821 | 甲状腺機能低下症 | 2 |
| HP:0001249 | 知的障害 | 2 |
| HP:0000364 | 聴覚異常 | 1 |
| HP:0000365 | 難聴 | 1 |
| HP:0000389 | 慢性中耳炎 | 1 |
| HP:0000648 | 視神経萎縮 | 1 |
| HP:0001388 | 関節指間 | 1 |
| HP:0009797 | コレステリン腫 | 1 |
| HP:0011968 | 食餌摂取障害 | 1 |
| HP:0100259 | 軸後性多指趾症 | 1 |
合計: 0
| Gene Symbol | 遺伝子名 | Entrez Gene ID |
|---|