| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (32.7%) |
10826618 |
Congenital bowing of the long bones associated with camptodactyly, talipes equinovarus and agenesis of the corpus callosum. Al-Gazali LI, Bakir M, Hamid ZM, Nath R, Haas D. Clin Dysmorphol. 2000;9(2):93-7. |
| 内反尖足 長管骨湾曲 | ||
| ヒト 先天性手変形 女 新生児 脳梁 致死的転帰 超音波検査 骨 | ||
| 1 (32.7%) |
9823491 |
Congenital bowing of the long bones in two fetuses presenting features of Stuve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2. Sigaudy S, Moncla A, Fredouille C, Bourliere B, Lambert JC, Philip N. Clin Dysmorphol. 1998;7(4):257-62. |
| 長管骨湾曲 | ||
| ヒト 中年 出生前超音波検査 劣性遺伝子 女 妊娠 成人 男 症候群 鑑別診断 骨軟骨異形成症 | ||
| 3 (21.2%) |
9674906 |
Schwartz-Jampel syndrome type 2 and Stuve-Wiedemann syndrome: a case for "lumping". Superti-Furga A, Tenconi R, Clementi M, Eich G, Steinmann B, Boltshauser E, Giedion A. Am J Med Genet. 1998;78(2):150-4. |
| ミオトニア 骨格異形成 | ||
| ヒト 先天性筋強直症 呼吸不全 子供 小児の摂食障害 症候群 経過観察 骨軟骨異形成症 | ||
| 4 (17.5%) |
8728692 |
Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates. Al-Gazali LI, Varghese M, Varady E, Al Talabani J, Scorer J, Bakalinova D. J Med Genet. 1996;33(3):203-11. |
| ミオトニア | ||
| United Arab Emirates ヒト 劣性遺伝子 女 妊娠 新生児 男 病状悪化 致死的転帰 骨軟骨異形成症 |
合計: 44
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000478 | 眼の異常 | Very frequent (99-80%) |
| HP:0000504 | 視覚の異常 | Very frequent (99-80%) |
| HP:0000935 | 長管骨皮質肥厚 | Very frequent (99-80%) |
| HP:0000944 | 骨幹端の異常 | Very frequent (99-80%) |
| HP:0000966 | 減汗症 | Very frequent (99-80%) |
| HP:0000975 | 多汗 | Very frequent (99-80%) |
| HP:0001954 | 発熱エピソード | Very frequent (99-80%) |
| HP:0002459 | 自律神経障害 | Very frequent (99-80%) |
| HP:0002652 | 骨格異形成 | Very frequent (99-80%) |
| HP:0002983 | 小肢症 | Very frequent (99-80%) |
| HP:0003016 | 骨幹端拡大 | Very frequent (99-80%) |
| HP:0003103 | 骨皮質形態異常 | Very frequent (99-80%) |
| HP:0003401 | 感覚異常 | Very frequent (99-80%) |
| HP:0004322 | 低身長 | Very frequent (99-80%) |
| HP:0006487 | 長管骨湾曲 | Very frequent (99-80%) |
| HP:0008872 | 食餌摂取障害 in infancy | Very frequent (99-80%) |
| HP:0100490 | 屈指 | Very frequent (99-80%) |
| HP:0000211 | 開口障害 (牙関緊急) | Frequent (79-30%) |
| HP:0000632 | 流涙異常 | Frequent (79-30%) |
| HP:0000938 | 骨減少症 | Frequent (79-30%) |
| HP:0000939 | 骨粗鬆症 | Frequent (79-30%) |
| HP:0001371 | 屈曲拘縮 | Frequent (79-30%) |
| HP:0001376 | 関節運動制限 | Frequent (79-30%) |
| HP:0001511 | 子宮内成長遅滞 | Frequent (79-30%) |
| HP:0001562 | 羊水過少 | Frequent (79-30%) |
| HP:0001762 | 内反尖足 | Frequent (79-30%) |
| HP:0002098 | 呼吸窮迫 | Frequent (79-30%) |
| HP:0002099 | 喘息 | Frequent (79-30%) |
| HP:0002104 | 無呼吸 | Frequent (79-30%) |
| HP:0002650 | 側弯 | Frequent (79-30%) |
| HP:0002757 | 反復性骨折 | Frequent (79-30%) |
| HP:0002857 | 外反膝 | Frequent (79-30%) |
| HP:0002987 | 肘屈曲拘縮 | Frequent (79-30%) |
| HP:0006380 | 膝屈曲拘縮 | Frequent (79-30%) |
| HP:0007328 | 痛覚障害 | Frequent (79-30%) |
| HP:0010298 | 平坦な舌 | Frequent (79-30%) |
| HP:0012785 | 指屈曲拘縮 | Frequent (79-30%) |
| HP:0000164 | 歯の異常 | Occasional (29-5%) |
| HP:0000821 | 甲状腺機能低下症 | Occasional (29-5%) |
| HP:0000960 | 仙骨部陥凹 | Occasional (29-5%) |
| HP:0001252 | 筋緊張低下 | Occasional (29-5%) |
| HP:0006844 | 膝蓋腱反射 | Occasional (29-5%) |
| HP:0008000 | 角膜反射減少 | Occasional (29-5%) |
| HP:0100028 | 異所性甲状腺 | Occasional (29-5%) |
合計: 3
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0006487 | 長管骨湾曲 | 2 |
| HP:0001762 | 内反尖足 | 1 |
| HP:0012385 | 屈指 | 1 |