| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (45.7%) |
27567651 |
Metatropic Dysplasia with a Novel Mutation in TRPV4. Narayanan DL, Bhavani GS, Girisha KM, Phadke SR. Indian Pediatr. 2016;53(8):735-7. |
| 骨格異形成 四肢近位短縮 | ||
| TRPV4 | ||
| TRPVチャネル ヒト 仙尾骨部 低身長症 変異 新生児 男 骨軟骨異形成症 | ||
| 2 (40.2%) |
25622169 |
[Metatropic dysplasia in a girl with c.1811_1812delinsAT mutation in exon 11 of the TRPV4 gene not previously reported]. Cammarata-Scalisi F, Matysiak-Scholze U, Heinze J, Barrera A, Lacruz-Rengel MA, Bracho A, Guerrero Y. Arch Argent Pediatr. 2015;113(1):e10-3. |
| 前頭突出, 額突出 | ||
| TRPV4 | ||
| c|INDEL|1811_1812|AT | ||
| TRPVチャネル エクソン ヒト 低身長症 変異 女 幼児 表現型 骨軟骨異形成症 | ||
| 3 (36.1%) |
19144099 (2648951) |
Advanced ossification of the carpal bones, and monkey wrench appearance of the femora, features suggestive of a propable mild form of desbeqious dysplasia: a case report and review of the literature. Al Kaissi A, Radler C, Klaushofer K, Grill F. Cases J. 2009;2(1):45. |
| ヒッチハイカー母指 外反膝 | ||
| 4 (34.8%) |
24121766 |
Prenatal diagnosis of metatropic dysplasia: beware of the pseudo-bowing sign. Garel C, Dhouib A, Sileo C, Cormier-Daire V, Ducou le Pointe H. Pediatr Radiol. 2014;44(3):344-8. |
| ダンベル型骨幹端 重度の扁平脊椎 | ||
| X線コンピュータ断層撮影 ヒト 低身長症 出生前超音波検査 新生児 発達性骨疾患 骨軟骨異形成症 | ||
| 4 (34.8%) |
22764341 |
Metatropic dysplasia in four-year-old boy--physiotherapy and orthopaedic care problems--case report. Kleszczynski J, Bloch M, Hofbauer K, Dominiak P. Ortop Traumatol Rehabil. 2012;14(3):289-302. |
| 扁平脊椎 短い骨幹 | ||
| ヒト 低身長症 外科的減圧術 子供（未就学） 男 頸椎 骨軟骨異形成症 | ||
| 6 (34.4%) |
24223250 |
A case of metatropic dysplasia: operative treatment of severe kyphoscoliosis and limb deformities. Song HR, Sinha S, Song SH, Suh SW. Oman Med J. 2013;28(6):445-7. |
| 扁平脊椎 小さい骨端 | ||
| 7 (32.7%) |
12589493 |
A new syndrome of "spondylo-epi-metaphyseal dysplasia: mixed type". Sharma BG. Skeletal Radiol. 2003;32(2):111-5. |
| 骨端異形成 骨幹端異形成 | ||
| ヒト 女 新生児 致死的転帰 骨軟骨異形成症 | ||
| 7 (32.7%) |
3805078 |
Metatropic dwarfism. Uncoupling of endochondral and perichondral growth. Boden SD, Kaplan FS, Fallon MD, Ruddy R, Belik J, Anday E, Zackai E, Ellis J. J Bone Joint Surg Am. 1987;69(2):174-84. |
| 骨格異形成 骨幹端血管侵入異常 | ||
| ヒト 幼児 男 軟骨無形成症 骨盤骨 | ||
| 9 (32.4%) |
10466420 |
Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia. Megarbane A, Haddad FA, Haddad-Zebouni S, Achram M, Eich G, Le Merrer M, Superti-Furga A. Clin Genet. 1999;56(1):71-6. |
| 腓骨過成長 重度の扁平脊椎 | ||
| SLC26A2 | ||
| p|SUB|Q|454|P;RS#:104893921 rs104893921 | ||
| アニオン輸送体 ヒト ホモ接合体 女 幼児 担体タンパク質 生物輸送 硫酸塩 膜輸送体 骨軟骨異形成症 | ||
| 10 (31.4%) |
8185980 |
[A case of motor and sensory neuropathy associated with metatropic dysplasia]. Yamashita S, Izawa T, Misugi N, Sasaki Y. No To Hattatsu. 1994;26(3):258-62. |
| 感覚ニューロパチー 扁平脊椎 鉾槍型骨盤 | ||
| ヒト 低身長症 末梢神経系疾患 男 運動ニューロン疾患 骨軟骨異形成症 |
合計: 26
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000348 | 高い額 | Very frequent (99-80%) |
| HP:0000772 | 肋骨の異常 | Very frequent (99-80%) |
| HP:0000774 | 狭い胸郭 | Very frequent (99-80%) |
| HP:0000944 | 骨幹端の異常 | Very frequent (99-80%) |
| HP:0001387 | 関節拘縮 | Very frequent (99-80%) |
| HP:0002650 | 側弯 | Very frequent (99-80%) |
| HP:0002652 | 骨格異形成 | Very frequent (99-80%) |
| HP:0002808 | 後弯 | Very frequent (99-80%) |
| HP:0002826 | 鉾槍型骨盤 | Very frequent (99-80%) |
| HP:0002983 | 小肢症 | Very frequent (99-80%) |
| HP:0003103 | 骨皮質形態異常 | Very frequent (99-80%) |
| HP:0003312 | 椎体骨形態異常 | Very frequent (99-80%) |
| HP:0003336 | 軟骨内骨化異常 | Very frequent (99-80%) |
| HP:0003510 | 重度の低身長 | Very frequent (99-80%) |
| HP:0005108 | 椎間板の異常 | Very frequent (99-80%) |
| HP:0005280 | 落ちくぼんだ鼻梁 | Very frequent (99-80%) |
| HP:0008434 | 頚椎低形成 | Very frequent (99-80%) |
| HP:0100670 | 粗い骨梁 | Very frequent (99-80%) |
| HP:0100818 | 長い胸郭 | Very frequent (99-80%) |
| HP:0000175 | 口蓋裂 | Occasional (29-5%) |
| HP:0000238 | 水頭症 | Occasional (29-5%) |
| HP:0000368 | 低位の後方回転した耳介 | Occasional (29-5%) |
| HP:0000518 | 白内障 | Occasional (29-5%) |
| HP:0004209 | 第5指弯指 | Occasional (29-5%) |
| HP:0006703 | 肺無形成/低形成 | Occasional (29-5%) |
| HP:0100490 | 屈指 | Occasional (29-5%) |
合計: 16
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0002652 | 骨格異形成 | 7 |
| HP:0002751 | 後側弯 | 3 |
| HP:0000763 | 感覚ニューロパチー | 2 |
| HP:0000926 | 扁平脊椎 | 2 |
| HP:0002650 | 側弯 | 2 |
| HP:0002651 | 脊椎骨端骨幹端異形成 | 2 |
| HP:0000961 | チアノーゼ | 1 |
| HP:0002007 | 前頭突出, 額突出 | 1 |
| HP:0002304 | 無動症 | 1 |
| HP:0002656 | 骨端異形成 | 1 |
| HP:0003040 | 関節症 | 1 |
| HP:0003099 | 腓骨過成長 | 1 |
| HP:0003467 | 環軸椎不安定 | 1 |
| HP:0003502 | 軽度の低身長 | 1 |
| HP:0004322 | 低身長 | 1 |
| HP:0004565 | 重度の扁平脊椎 | 1 |