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疾病英文名:Parametritis 疾病分类:非罕见病 感染性疾病 生殖系统疾病 其他别名:Pelvic Cellulitis 疾病简介:盆腔炎,又称为盆腔细胞炎,与输卵管炎和子…
疾病英文名:Epididymo-Orchitis 疾病分类:非罕见病 生殖系统疾病 其他别名: 疾病简介:附睾炎与睾丸炎和睾丸扭转有关。与附睾炎相关的基因是CRP(C反应蛋白),其…
疾病英文名:Maligant Granulosa Cell Tumor of the Ovary 疾病分类:罕见病 肿瘤类疾病 生殖系统疾病 其他别名:Granulosa Cell…
疾病英文名:Male Infertility 疾病分类:罕见病 内分泌类疾病 生殖系统疾病 其他别名:Infertility, Male Absolute Infertility …
疾病英文名:Rete Ovarii Cystadenoma 疾病分类:非罕见病 肿瘤类疾病 生殖系统疾病 其他别名: 疾病简介:卵巢浆液性囊腺瘤 遗传模式:该疾病的遗传方式暂未清晰…
疾病英文名:Transverse Vaginal Septum 疾病分类:罕见病 致命性疾病 生殖系统疾病 其他别名: 疾病简介:横膈膜阴道与子宫积血和阴道闭锁有关。附属组织包括子…
疾病英文名:Salpingitis Isthmica Nodosa 疾病分类:非罕见病 生殖系统疾病 其他别名: 疾病简介:间质性输卵管炎与输卵管炎和异位妊娠有关。与间质性输卵管炎…
疾病英文名:EKVP3 - Erythrokeratodermia Variabilis Et Progressiva 3 疾病分类:罕见病 眼科疾病 生殖系统疾病 其他别名:Ek…
疾病英文名:SPGF11 - Spermatogenic Failure 11 疾病分类:罕见病 生殖系统疾病 其他别名:Spgf11 疾病简介:Spermatogenic Fai…
疾病英文名:SPGF76 - Spermatogenic Failure 76 疾病分类:罕见病 生殖系统疾病 其他别名:Spgf76 疾病简介:Spermatogenic Fai…
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食管管状重复畸形与食管重复畸形有关。 Tubular Duplication of the Esophagus
淋巴水肿和脑动静脉畸形,也称为淋巴水肿-脑动静脉畸形-原发性肺动脉高压综合征。相关表型为淋巴水肿和肺动脉高压 Lymphedema and Cerebral Arteriovenous Anomaly
Hydrolethalus Syndrome 1, also known as hydrolethalus syndrome, is related to hydrolethalus syndrome 2 and acrocallosal syndrome. An important gene associated with Hydrolethalus Syndrome 1 is HYLS1 (HYLS1 Centriolar And Ciliogenesis Associated), and among its related pathways/superpathways are Loss of proteins required for interphase microtubule organization from the centrosome and Organelle biogenesis and maintenance. Affiliated tissues include heart and adrenal gland, and related phenotypes are agenesis of corpus callosum and hydrocephalus. Hydrolethalus Syndrome 1, also known as hydrolethalus syndrome, is related to hydrolethalus syndrome 2 and acrocallosal syndrome. An important gene associated with Hydrolethalus Syndrome 1 is HYLS1 (HYLS1 Centriolar And Ciliogenesis Associated), and among its related pathways/superpathways are Loss of proteins required for interphase microtubule organization from the centrosome and Organelle biogenesis and maintenance. Affiliated tissues include heart and adrenal gland, and related phenotypes are agenesis of corpus callosum and hydrocephalus. Hydrolethalus Syndrome 1, also known as hydrolethalus syndrome, is related to hydrolethalus syndrome 2 and acrocallosal syndrome. An important gene associated with Hydrolethalus Syndrome 1 is HYLS1 (HYLS1 Centriolar And Ciliogenesis Associated), and among its related pathways/superpathways are Loss of proteins required for interphase microtubule organization from the centrosome and Organelle biogenesis and maintenance. Affiliated tissues include heart and adrenal gland, and related phenotypes are agenesis of corpus callosum and hydrocephalus. Hydrolethalus Syndrome 1, also known as hydrolethalus syndrome, is related to hydrolethalus syndrome 2 and acrocallosal syndrome. An important gene associated with Hydrolethalus Syndrome 1 is HYLS1 (HYLS1 Centriolar And Ciliogenesis Associated), and among its related pathways/superpathways are Loss of proteins required for interphase microtubule organization from the centrosome and Organelle biogenesis and maintenance. Affiliated tissues include heart and adrenal gland, and related phenotypes are ag HLS1 – Hydrolethalus Syndrome 1
肝病,也称为肝脏疾病,与非酒精性脂肪肝病和脂肪肝病有关,症状包括恶心、呕吐、便秘和腹痛。与肝病相关的重要基因是MEG3(母体表达3),其相关通路/超级通路包括代谢和核受体元通路。在该疾病的背景下提到了Somatostatin和Orange药物。附属组织包括肝脏和骨髓,相关表型是减少的乳腺囊泡形成和肝脏/胆道系统。 Liver Disease
Spermatogenic Failure 60,也被称为spgf60。与Spermatogenic Failure 60相关的基因是TERB1(Telomere Repeat Binding Bouquet Formation Protein 1)。相关表型包括男性不育和非梗阻性无精子症。 SPGF60 – Spermatogenic Failure 60