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疾病英文名:CMTDIG - Charcot-Marie-Tooth Disease, Dominant Intermediate G 疾病分类:罕见病 其它疾病 眼科疾病 其他别…
疾病英文名:PHLS - Pallister-Hall-Like Syndrome 疾病分类:罕见病 骨骼肌类疾病 内分泌类疾病 其他别名:Hamartoma of Hypotha…
疾病英文名:CFEOM2 - Fibrosis of Extraocular Muscles, Congenital, 2 疾病分类:罕见病 眼科疾病 致命性疾病 其他别名:Cfe…
疾病英文名:HMOX1D - Heme Oxygenase 1 Deficiency 疾病分类:罕见病 肝脏类疾病 肾脏类疾病 其他别名:Heme Oxygenase-1 Defi…
疾病英文名:PSS4 - Peeling Skin Syndrome 4 疾病分类:罕见病 皮肤外科疾病 其他别名:Exfoliative Ichthyosis, Autosoma…
疾病英文名:DEE107 - Developmental and Epileptic Encephalopathy 107 疾病分类:罕见病 肿瘤类疾病 其它疾病 其他别名:Dev…
疾病英文名:Laminin Subunit Alpha 2-Related Limb-Girdle Muscular Dystrophy R23 疾病分类:罕见病 骨骼肌类疾病 神…
疾病英文名:Generalized Peeling Skin Syndrome 疾病分类:罕见病 皮肤外科疾病 其他别名:Generalized Deciduous Skin Ge…
疾病英文名:Dissociative Seizures 疾病分类:罕见病 其他别名:Dissociative Convulsions Psychogenic Seizure 疾病简…
疾病英文名:SLSN6 - Senior-Loken Syndrome 6 疾病分类:罕见病 眼科疾病 肾脏类疾病 其他别名:Slsn6 Senior-Loken Syndrome…
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胎儿下尿路梗阻,又称其他尿道或膀胱颈部闭锁,与后尿道瓣膜和尿道闭锁有关。附属组织包括肾脏。 LUTO – Fetal Lower Urinary Tract Obstruction
Nephropathy, Progressive, with Deafness, also known as alport/focal segmental glomerulosclerosis-like syndrome, is a disease associated with the NEDE gene, which is important for the development of this condition. The disease affects tissues such as the kidney and liver. NEDE – Nephropathy, Progressive, with Deafness
先天性肌病伴膈肌缺陷、呼吸功能不全和畸形面容,也称为由于myod1缺乏导致的先天性肌病。与先天性肌病伴膈肌缺陷、呼吸功能不全和畸形面容有关的重要基因是MYOD1(肌分化1)。附属组织包括肺和肾,相关表型为上睑下垂和高腭。 MYODRIF – Myopathy, Congenital, with Diaphragmatic Defects, Respiratory Insufficiency, and Dysmorphic Facies
伴有补体基因异常的非典型溶血性尿毒症,也称为伴有补体基因异常的非典型HUS,与遗传性非典型溶血性尿毒症和紫癜有关。与伴有补体基因异常的非典型溶血性尿毒症相关的基因是C3(补体C3),与其相关通路/超级通路包括先天免疫系统和补体通路。相关表型是肾脏/尿路系统和心血管系统。 Atypical Hemolytic Uremic Syndrome with Complement Gene Abnormality
糖尿病性多尿症,肾源性,伴精神发育迟滞和脑内钙化,也称为Schofer Beetz Bohl综合征。相关组织包括肾脏和骨骼,相关表型为智力障碍和脑内钙化。 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification