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疾病英文名:Testicular Torsion 疾病分类:非罕见病 内分泌类疾病 生殖系统疾病 其他别名:Spermatic Cord Torsion Torsion of Te…
疾病英文名:Lateral Cystocele 疾病分类:非罕见病 生殖系统疾病 其他别名: 疾病简介:耻骨尾骨间隙囊肿 与耻骨尾骨间隙囊肿相关的基因是 SPARC(分泌型酸性富含…
疾病英文名:SPGF15 - Spermatogenic Failure 15 疾病分类:罕见病 生殖系统疾病 其他别名:Spgf15 Spermatogenic Failure,…
疾病英文名:Mammary Paget's Disease 疾病分类:罕见病 肿瘤类疾病 生殖系统疾病 其他别名:Paget's Disease Paget's Disease o…
疾病英文名:ST12 - Suppression of Tumorigenicity 12 疾病分类:非罕见病 肿瘤类疾病 生殖系统疾病 其他别名:Prostate Adenoca…
疾病英文名:Nonsyndromic 46,xx Testicular Disorders/differences of Sex Development 疾病分类:非罕见病 生殖系…
疾病英文名:Leukoplakia 疾病分类:罕见病 肿瘤类疾病 生殖系统疾病 其他别名:Leukoplakia of Oral Epithelium Leukokeratosis…
疾病英文名:Precocious Puberty in Female 疾病分类:罕见病 生殖系统疾病 其他别名: 疾病简介:女性早熟与遗传性女性早熟和早熟有关。附属组织包括皮质和垂…
疾病英文名:Male Infertility Due to Obstructive Azoospermia 疾病分类:罕见病 内分泌类疾病 生殖系统疾病 其他别名:Male Inf…
疾病英文名:Scrotal Carcinoma 疾病分类:非罕见病 肿瘤类疾病 生殖系统疾病 其他别名:Malignant Neoplasm of Scrotum Carcinom…
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胸癌,又称胸腔肿瘤,与乳腺癌和食管癌有关。与胸癌相关的一个重要基因是MIR199A1(微小核糖核酸199a-1),其相关通路/超级通路包括参与DNA损伤反应的miRNAs和参与败血症免疫反应的miRNAs。在该疾病的背景下,已提到过布比卡因和长春瑞滨。附属组织包括气管和肺。 Thoracic Cancer
Ophthalmoplegia, External, with Rib and Vertebral Anomalies, also known as EORVA, is a rare genetic disorder. It is caused by mutations in the MYF5 gene, which is also known as Myogenic Factor 5. This gene is important for the development of muscles, including those in the eye. People with EORVA may have symptoms such as weakness or paralysis of the muscles that control eye movement, as well as abnormalities in the ribs and vertebrae. Other related phenotypes include basilar invagination and scoliosis. EORVA – Ophthalmoplegia, External, with Rib and Vertebral Anomalies
智力发育障碍伴自闭症和巨脑症,也被称为自闭症易感性18。与智力发育障碍伴自闭症和巨脑症有关的重要基因是CHD8(染色质域螺旋酶DNA结合蛋白8)。相关表型为巨脑症和智力障碍 IDDAM – Intellectual Developmental Disorder with Autism and Macrocephaly
家族性克雅氏病与克雅氏病有关。附属组织包括大脑。 Familial Creutzfeld-Jakob Disease
神经发育障碍伴脑萎缩和可变面部畸形,也称为nedcafd。与神经发育障碍伴脑萎缩和可变面部畸形相关的基因是TTC5(四肽重复域5)。相关组织包括大脑和睾丸,相关表型包括智力障碍和癫痫。 NEDCAFD – Neurodevelopmental Disorder with Cerebral Atrophy and Variable Facial Dysmorphism