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疾病英文名:IMD83 - Immunodeficiency 83 Viral Infections 疾病分类:非罕见病 免疫系统疾病 感染性疾病 其他别名:Immunodefic…
疾病英文名:ADC - Aids Dementia Complex 疾病分类:罕见病 免疫系统疾病 感染性疾病 其他别名:Aids Related Cognitive Impair…
疾病英文名:Congenital Enterovirus Infection 疾病分类:罕见病 致命性疾病 感染性疾病 其他别名:Mother-to-Child Transmiss…
疾病英文名:Asymptomatic Neurosyphilis 疾病分类:非罕见病 感染性疾病 神经精神疾病 其他别名:Neurosyphilis Neurosyphilis, …
疾病英文名:GWD - Dracunculiasis 疾病分类:罕见病 感染性疾病 皮肤外科疾病 其他别名:Guinea Worm Disease Dracunculosis Dr…
疾病英文名:Klebsiella Pneumonia 疾病分类:非罕见病 感染性疾病 呼吸道疾病 其他别名:Pneumonia Due to Klebsiella Pneumoni…
疾病英文名:Viral Laryngitis 疾病分类:非罕见病 感染性疾病 呼吸道疾病 其他别名: 疾病简介:病毒性喉炎与喉炎和水痘有关。与病毒性喉炎有关的重要基因是DOCK11…
疾病英文名:Tinea Imbricata 疾病分类:罕见病 免疫系统疾病 感染性疾病 其他别名:Kerion Celsi Trichophyton Infection Tinea…
疾病英文名:AE - Autoimmune Encephalitis 疾病分类:罕见病 免疫系统疾病 感染性疾病 其他别名:Hashimoto's Encephalitis Aie…
疾病英文名:Phagocyte Bactericidal Dysfunction 疾病分类:非罕见病 免疫系统疾病 感染性疾病 其他别名:Phagocytic Dysfunctio…
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胸腺小细胞癌,又称胸腺小细胞癌,与小细胞癌和杯状细胞癌有关。与胸腺小细胞癌有关的重要基因是CHGA(Chromogranin A)。附属组织包括胸腺。 Thymus Small Cell Carcinoma
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
睾丸间质细胞瘤,又称为睾丸间质细胞瘤,与脂质先天性肾上腺增生和间质细胞瘤有关。与睾丸间质细胞瘤有关的重要基因是PABIR3(PABIR家族成员3)。Ipilimumab和Nivolumab已在这种疾病的背景下被提及。附属组织包括睾丸。 Testicular Leydig Cell Tumor
颈内动脉自发性相关表型是颈内动脉外周性破裂。 Internal Carotid Artery, Spontaneous Dissection of
神经发育障碍伴痉挛、白内障和小脑发育不全,也称为nedscac。与神经发育障碍伴痉挛、白内障和小脑发育不全有关的重要基因是MED27(中介复合物亚基27)。相关组织包括大脑和舌,相关表型包括智力障碍和癫痫。 NEDSCAC – Neurodevelopmental Disorder with Spasticity, Cataracts, and Cerebellar Hypoplasia