順位 (類似度) |
PMID (PMCID) |
|
---|---|---|
1 (43.2%) |
18049085 |
Progressive noninfectious anterior vertebral fusion in a girl with axial mesodermal dysplasia spectrum. Al Kaissi A, Grill F, Alexander K, Varga F, Klaushofer K. Clin Dysmorphol. 2008;17(1):65-8. |
脊椎骨癒合 仙骨低形成 | ||
ヒト 中胚葉 女 磁気共鳴画像法 骨軟骨異形成症 | ||
2 (39.0%) |
22439114 (3307243) |
Duplication of the pituitary gland associated with multiple blastogenesis defects: Duplication of the pituitary gland (DPG)-plus syndrome. Case report and review of literature. Manjila S, Miller EA, Vadera S, Goel RK, Khan FR, Crowe C, Geertman RT. Surg Neurol Int. 2012;3:23. |
脳瘤 | ||
3 (30.6%) |
8465843 |
Axial mesodermal dysplasia spectrum. Stewart FJ, Nevin NC, Brown S. Am J Med Genet. 1993;45(4):426-9. |
両側性内反尖足 腰椎半脊椎 | ||
ヒト 中胚葉 先天性股関節脱臼 女 成人 新生児 男 胸部X線 腎臓 鎖肛 | ||
4 (22.8%) |
8775416 |
Severe axial mesodermal dysplasia spectrum in an infant of a diabetic mother. Depraetere M, Dehauwere R, Marien P, Fryns JP. Genet Couns. 1995;6(4):303-7. |
神経因性膀胱 両側性内反尖足 | ||
ヒト 中胚葉 大腿骨 女 妊娠 幼児 成人 新生児 発達性骨疾患 糖尿病患者の妊娠 骨盤骨 | ||
5 (4.0%) |
17676608 |
Severe fatal course of axial mesodermal dysplasia spectrum associated with complex cardiac defect in an infant of a mother with insulin dependent diabetes. Dinleyici EC, Tekin N, Dinleyici M, Kilic Z, Adapinar B, Aksit MA. Am J Med Genet A. 2007;143A(18):2156-9. |
糖尿病 | ||
1型糖尿病 ヒト 先天性心疾患 女 妊娠 新生児 糖尿病患者の妊娠 致死的転帰 | ||
5 (4.0%) |
15127759 |
Axial mesodermal dysplasia sequence: autopsy findings. Merchant SN, Naimi TS, Khan A, Nadol JB Jr, Holmes LB. Clin Dysmorphol. 2004;13(1):21-4. |
外耳道閉鎖 | ||
ヒト 中胚葉 剖検 女 妊娠 成人 発達性骨疾患 表現型 骨 | ||
5 (4.0%) |
14981721 |
Human disorganization complex, as a polytopic blastogenesis defect: a new case. Delgado Luengo WN, Luisa Hernandez Rodriguez M, Valbuena Pirela I, Gonzalez Ferrer S, Estrada Corona P, Chacon Fonseca I, Delgado Luengo J, Morales-Machin A, Borjas Fuentes L, Caridad Martinez Basalo M, Chacin J. Am J Med Genet A. 2004;125A(2):181-5. |
直腸膣瘻 | ||
ヒト リンパ球活性化 女 形態形成 新生児 症候群 | ||
5 (4.0%) |
9132501 |
Cebocephaly, alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth. Chen CP, Shih SL, Liu FF, Jan SW. J Med Genet. 1997;34(3):252-5. |
糖尿病 | ||
ヒト 全前脳症 口蓋裂 奇肢症 女 胎児死亡 脊椎癒合不全 頭蓋顔面奇形 | ||
5 (4.0%) |
1621765 |
Craniorachischisis totalis and sirenomelia. Rodriguez JI, Palacios J. Am J Med Genet. 1992;43(4):732-6. |
無脳症 | ||
ヒト 奇肢症 女 妊娠 成人 新生児 無脳症 男 |
合計: 42
HPO ID | 徴候・症状 | 頻度 |
---|---|---|
HP:0000008 | 女性内性器異常 | Very frequent (99-80%) |
HP:0000069 | 尿管異常 | Very frequent (99-80%) |
HP:0000078 | 性器異常 | Very frequent (99-80%) |
HP:0000079 | 尿路異常 | Very frequent (99-80%) |
HP:0000107 | 腎嚢胞 | Very frequent (99-80%) |
HP:0000212 | 歯肉過成長 | Very frequent (99-80%) |
HP:0000238 | 水頭症 | Very frequent (99-80%) |
HP:0000316 | 両眼隔離 | Very frequent (99-80%) |
HP:0000324 | 顔面非対称 | Very frequent (99-80%) |
HP:0000347 | 小顎 | Very frequent (99-80%) |
HP:0000384 | 耳介前皮膚肉柱 | Very frequent (99-80%) |
HP:0000470 | 短い頸部 | Very frequent (99-80%) |
HP:0000772 | 肋骨の異常 | Very frequent (99-80%) |
HP:0000776 | 先天性横隔膜ヘルニア | Very frequent (99-80%) |
HP:0000921 | 肋骨欠損 | Very frequent (99-80%) |
HP:0000924 | 骨格の異常 | Very frequent (99-80%) |
HP:0001140 | 眼球上デルモイド | Very frequent (99-80%) |
HP:0001392 | 肝の異常 | Very frequent (99-80%) |
HP:0001539 | 臍帯ヘルニア | Very frequent (99-80%) |
HP:0001562 | 羊水過少 | Very frequent (99-80%) |
HP:0001622 | 早産 | Very frequent (99-80%) |
HP:0001743 | 脾の異常 | Very frequent (99-80%) |
HP:0002020 | 胃食道逆流 | Very frequent (99-80%) |
HP:0002023 | 鎖肛 | Very frequent (99-80%) |
HP:0002120 | 大脳皮質萎縮 | Very frequent (99-80%) |
HP:0002242 | 腸の異常 | Very frequent (99-80%) |
HP:0002644 | 骨盤帯骨の形態異常 | Very frequent (99-80%) |
HP:0002650 | 側弯 | Very frequent (99-80%) |
HP:0002815 | 膝の異常 | Very frequent (99-80%) |
HP:0003312 | 椎体骨形態異常 | Very frequent (99-80%) |
HP:0003422 | 脊椎分節異常 | Very frequent (99-80%) |
HP:0004322 | 低身長 | Very frequent (99-80%) |
HP:0006703 | 肺無形成/低形成 | Very frequent (99-80%) |
HP:0008551 | 小耳 | Very frequent (99-80%) |
HP:0008678 | 腎低形成/無形成 | Very frequent (99-80%) |
HP:0012718 | 胃腸管の形態異常 | Very frequent (99-80%) |
HP:0012732 | 肛門直腸奇形 | Very frequent (99-80%) |
HP:0000126 | 水腎症 | Frequent (79-30%) |
HP:0000707 | 神経系の異常 | Frequent (79-30%) |
HP:0002019 | 便秘 | Frequent (79-30%) |
HP:0002575 | 気管食道瘻 | Frequent (79-30%) |
HP:0100542 | 腎位置異常 | Frequent (79-30%) |
合計: 1
HPO ID | 徴候・症状 | 症例報告数 |
---|---|---|
HP:0004557 | 遠方脊椎癒合 | 1 |
合計: 0
Gene Symbol | 遺伝子名 | Entrez Gene ID |
---|