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疾病英文名:Trimellitic Anhydride Allergic Asthma 疾病分类:非罕见病 免疫系统疾病 呼吸道疾病 其他别名:Allergic Asthma to…
疾病英文名:Drug- or Toxin-Induced Pulmonary Arterial Hypertension 疾病分类:罕见病 呼吸道疾病 其他别名:Drug- or …
疾病英文名:LC - Laryngeal Cleft 疾病分类:罕见病 致命性疾病 呼吸道疾病 其他别名:Laryngo-Tracheo-Esophageal Diastema L…
疾病英文名:Syndromic Respiratory or Mediastinal Malformation 疾病分类:罕见病 致命性疾病 呼吸道疾病 其他别名: 疾病简介:综合…
疾病英文名:Lethal Midline Granuloma 疾病分类:罕见病 肿瘤类疾病 呼吸道疾病 其他别名:Granuloma, Lethal Midline Midfaci…
疾病英文名:Growth Retardation Hydrocephaly Lung Hypoplasia 疾病分类:罕见病 呼吸道疾病 其他别名: 疾病简介:生长迟缓、脑积水、肺…
疾病英文名:Acute Laryngopharyngitis 疾病分类:非罕见病 呼吸道疾病 其他别名:Pharyngolaryngitis Laryngopharyngitis …
疾病英文名:LIPT1D - Lipoyltransferase 1 Deficiency 疾病分类:罕见病 骨骼肌类疾病 呼吸道疾病 其他别名:Lipoyl Transferas…
疾病英文名:Persistent Moderate Asthma 疾病分类:非罕见病 呼吸道疾病 其他别名: 疾病简介:持续性中度哮喘与慢性哮喘和胰腺活性肠肽产生肿瘤有关。与持续性…
疾病英文名:Collagen Vi-Related Dystrophies 疾病分类:非罕见病 骨骼肌类疾病 呼吸道疾病 其他别名:Collagen 6-Related Myopa…
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Nephrolithiasis/osteoporosis, Hypophosphatemic, 1, also known as hypophosphatemic nephrolithiasis/osteoporosis 1, is related to idiopathic infantile hypercalcemia and hypercalciuria, absorptive, 2. An important gene associated with Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 is SLC34A1 (Solute Carrier Family 34 Member 1), and among its related pathways/superpathways are Signaling by FGFR2 and Vitamin D receptor pathway. Affiliated tissues include kidney, and related phenotypes are osteopenia and hypophosphatemia. 翻译结果: Nephrolithiasis/osteoporosis, Hypophosphatemic, 1,也称为hypophosphatemic nephrolithiasis/osteoporosis 1,与idiopathic infantile hypercalcemia和hypercalciuria,absorptive,2有关。与Nephrolithiasis/osteoporosis, Hypophosphatemic, 1有关的重要基因是SLC34A1(Solute Carrier Family 34 Member 1),其相关通路/超级通路包括FGFR2信号通路和维生素D受体通路。附属组织包括肾脏,相关表型为骨质疏松和低磷血症。 NPHLOP1 – Nephrolithiasis/osteoporosis, Hypophosphatemic, 1
永久磨牙,又称牙固定,与牙固定和牙固定有关,症状包括牙痛,附属组织包括骨,相关表型包括牙缺损和异常牙釉形态 Permanent Molars, Secondary Retention of
维生素D依赖性软骨病,类型3,也称为vddr3,与维生素D依赖性软骨病和软骨病有关。与维生素D依赖性软骨病,类型3有关的重要基因是CYP3A4(细胞色素P450家族3亚家族A成员4),在其相关通路/超级通路中包括生物转化途径I和II和细胞色素P450氧化。相关表型为骨骺炎和骨骺杯状改变 VDDR3 – Vitamin D-Dependent Rickets, Type 3
由于基因钾通道缺陷导致的神经肌肉通道病 Neurological Muscular Channelopathy Due to a Genetic Potassium Channel Defect
15q24缺失综合症,也被称为15q24微缺失综合症,与维特文-科克综合症和肌张力减低有关。与15q24缺失综合症有关的一个重要基因是SIN3A(SIN3转录调节家族成员A)。关联的组织包括心脏,相关表型包括全球发育延迟和智力障碍 Chromosome 15q24 Deletion Syndrome