| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (32.2%) |
31169704 |
Five-year follow-up outcomes of comprehensive rehabilitation in Korean siblings with cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome: A case report. Yoo SD, Han YR, Kim DH, Lee SA. Medicine (Baltimore). 2019;98(23):e15908. |
| 白内障 骨端異形成 | ||
| South Korea ヒト 先天性股関節脱臼 同胞 女 子供 成長障害 歯牙異常 男 眼奇形 頭蓋顔面奇形 骨軟骨異形成症 | ||
| 1 (32.2%) |
11471171 |
Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: first report of an affected male and review of literature. Innes AM, Chudley AE, Reed MH, Shuckett EP, Hildes-Ripstein GE, Greenberg CR. Am J Med Genet. 2001;102(1):44-7. |
| 眼瞼下垂 骨端異形成 | ||
| ヒト 幼児 歯牙異常 男 症候群 眼奇形 骨 | ||
| 1 (32.2%) |
7702089 |
CODAS syndrome: a new distinct MCA/MR syndrome with radiological changes of spondyloepiphyseal dysplasia. Another case report. de Almeida JC, Vargas FR, Barbosa-Neto JG, Llerena JC Jr. Am J Med Genet. 1995;55(1):19-20. |
| 白内障 脊椎骨端異形成 骨端異形成 | ||
| ヒト 女 子供（未就学） 骨軟骨異形成症 | ||
| 4 (17.5%) |
28148925 |
A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome. Inui T, Anzai M, Takezawa Y, Endo W, Kakisaka Y, Kikuchi A, Onuma A, Kure S, Nishino I, Ohba C, Saitsu H, Matsumoto N, Haginoya K. J Hum Genet. 2017;62(6):653-655. |
| 白内障 痙性 | ||
| LONP1 SIL1 | ||
| p|FS|S|100|Q|46 p|SUB|R|786|W;RS#:568896016 rs1555714925 | ||
| ATP依存性キナーゼ エクソーム タンパク質ドメイン ヒト ミトコンドリアタンパク質 先天性股関節脱臼 子供 成長障害 歯牙異常 男 疾患の遺伝的素因 眼奇形 知的障害 脊髄小脳変性症 頭蓋顔面奇形 骨軟骨異形成症 | ||
| 5 (4.0%) |
20503327 |
Fourth case of cerebral, ocular, dental, auricular, skeletal syndrome (CODAS), description of new features and molecular analysis. Marlin S, Ducou Le Pointe H, Le Merrer M, Portnoi MF, Chantot S, Jonard L, Mantel-Guiochon A, Siffroi JP, Garabedian EN, Denoyelle F. Am J Med Genet A. 2010;152A(6):1510-4. |
| 白内障 | ||
| rs1555714925 | ||
| ヒト 子供（未就学） 心房 歯牙異常 男 症候群 白内障 知的障害 骨 | ||
| 5 (4.0%) |
1887855 |
Newly recognized syndrome of cerebral, ocular, dental, auricular, skeletal anomalies: CODAS syndrome--a case report. Shebib SM, Reed MH, Shuckett EP, Cross HG, Perry JB, Chudley AE. Am J Med Genet. 1991;40(1):88-93. |
| 眼瞼下垂 | ||
| rs1555714925 rs879255247 | ||
| ヒト 女 幼児 歯牙異常 症候群 眼奇形 超音波検査 骨 |
合計: 33
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000286 | 内眼角贅皮 | Very frequent (99-80%) |
| HP:0000396 | 耳輪の過剰な巻き込み | Very frequent (99-80%) |
| HP:0000463 | 上向きの鼻孔 | Very frequent (99-80%) |
| HP:0000518 | 白内障 | Very frequent (99-80%) |
| HP:0000682 | 歯エナメル質異常 | Very frequent (99-80%) |
| HP:0000684 | 歯萌出遅延 | Very frequent (99-80%) |
| HP:0001156 | 短指症候群 | Very frequent (99-80%) |
| HP:0001263 | 全般性発達遅滞 | Very frequent (99-80%) |
| HP:0002750 | 骨格骨化遅延 | Very frequent (99-80%) |
| HP:0003196 | 短い鼻 | Very frequent (99-80%) |
| HP:0003312 | 椎体骨形態異常 | Very frequent (99-80%) |
| HP:0003417 | 冠状脊椎裂 | Very frequent (99-80%) |
| HP:0004122 | 正中鼻奇形 | Very frequent (99-80%) |
| HP:0004322 | 低身長 | Very frequent (99-80%) |
| HP:0005280 | 落ちくぼんだ鼻梁 | Very frequent (99-80%) |
| HP:0005930 | 骨端の異常 | Very frequent (99-80%) |
| HP:0006482 | 歯形態異常 | Very frequent (99-80%) |
| HP:0009901 | しわくちゃの耳 | Very frequent (99-80%) |
| HP:0010049 | 短い中手骨 | Very frequent (99-80%) |
| HP:0012368 | 平坦な顔 | Very frequent (99-80%) |
| HP:0000407 | 感音難聴 | Frequent (79-30%) |
| HP:0000508 | 眼瞼下垂 | Frequent (79-30%) |
| HP:0001252 | 筋緊張低下 | Frequent (79-30%) |
| HP:0001374 | 先天性股関節脱臼 | Frequent (79-30%) |
| HP:0002644 | 骨盤帯骨の形態異常 | Frequent (79-30%) |
| HP:0002650 | 側弯 | Frequent (79-30%) |
| HP:0005692 | 関節過伸展 | Frequent (79-30%) |
| HP:0000072 | 水尿管症 | Occasional (29-5%) |
| HP:0000486 | 斜視 | Occasional (29-5%) |
| HP:0000639 | 眼振 | Occasional (29-5%) |
| HP:0001600 | 喉頭の異常 | Occasional (29-5%) |
| HP:0001629 | 心室中隔欠損 | Occasional (29-5%) |
| HP:0005242 | 肝外胆管閉鎖 | Occasional (29-5%) |
合計: 1
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0002655 | 脊椎骨端異形成 | 1 |