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疾病英文名:AIMAH1 - Acth-Independent Macronodular Adrenal Hyperplasia 疾病分类:罕见病 骨骼肌类疾病 内分泌类疾病 其他…
疾病英文名:OES - Oculoectodermal Syndrome 疾病分类:罕见病 致命性疾病 皮肤外科疾病 其他别名:Aplasia Cutis Congenita wi…
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Hernández-Aguirre Negrete 综合症,也被称为智力障碍-癫痫-鼻头肥大综合症。相关组织包括大脑,相关表型包括癫痫和EEG异常。 Hernández-Aguirre Negrete Syndrome
Vesicoureteral Reflux, also known as vesico-ureteral reflux, is related to papillorenal syndrome and familial vesicoureteral reflux, and has symptoms including dysuria and urgency of micturition. An important gene associated with Vesicoureteral Reflux is EBF3 (EBF Transcription Factor 3), and among its related pathways/superpathways are Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics and Angiotensin II receptor type 1 pathway. The drugs Sulfamethoxazole and Levoleucovorin have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and kidney, and related phenotype is adipose tissue. Vesicoureteral Reflux
综合征性粘连性鳞状毛发性角膜缘炎,也称为综合征性粘连性鳞状毛发性角膜缘炎。附属组织包括眼睛。 Syndromic Ankyloblepharon Filiforme Adnatum
多囊肾病,婴儿型严重,伴有结节性硬化症,也称为pkdts,与多囊肾病1有关,伴有或不伴有多囊肝和多囊肾。与多囊肾病,婴儿型严重,伴有结节性硬化症有关的重要基因是PKDTS(多囊肾病,婴儿型严重,伴有结节性硬化症)。附属组织包括肾脏和乳腺,相关表型为多囊肾发育不良和肾血管平滑肌脂肪瘤。 PKDTS – Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis
部分心室间隔缺损伴心室发育不良,也称为部分心室间隔缺损伴心室发育不良。与部分心室间隔缺损伴心室发育不良有关的重要基因是GATA4(GATA结合蛋白4)。 Partial Atrioventricular Septal Defect with Ventricular Hypoplasia