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疾病英文名:RP79 - Retinitis Pigmentosa 79 疾病分类:罕见病 骨骼肌类疾病 其它疾病 其他别名:Rp79 Retinitis Pigmentosa, …
疾病英文名:ACTFS - Accelerated Tumor Formation 疾病分类:非罕见病 其他别名:Accelerated Tumor Formation, Susc…
疾病英文名:CMT2V - Charcot-Marie-Tooth Disease, Axonal, Type 2v 疾病分类:罕见病 其它疾病 骨骼肌类疾病 其他别名:Charc…
疾病英文名:Primary Release Disorder of Platelets 疾病分类:罕见病 血液系统疾病 其他别名:Bleeding Disorder Due to …
疾病英文名:PPKB - Palmoplantar Keratoderma, Bothnian Type 疾病分类:罕见病 皮肤外科疾病 其他别名:Ppkb Diffuse Pal…
疾病英文名:ENCHOM - Enchondromatosis, Multiple, Ollier Type 疾病分类:罕见病 骨骼肌类疾病 肿瘤类疾病 其他别名:Enchondr…
疾病英文名:ASMD - Anterior Segment Dysgenesis 疾病分类:罕见病 心血管疾病 眼科疾病 其他别名:Anterior Segment Develop…
疾病英文名:ETM6 - Tremor, Hereditary Essential, 6 疾病分类:罕见病 骨骼肌类疾病 神经精神疾病 其他别名:Etm6 Tremor, Here…
疾病英文名:PKD7 - Polycystic Kidney Disease 7 疾病分类:罕见病 内分泌类疾病 肝脏类疾病 其他别名:Pkd7 疾病简介:多囊肾病7,也称为pkd…
疾病英文名:HAYOS - Harel-Yoon Syndrome 疾病分类:罕见病 眼科疾病 神经精神疾病 其他别名:Hayos Ocular Anomalies-Axonal …
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中脑顶盖帽状核发育不全,也称为ptcd,与肌张力减低和感觉神经性听力损失有关,症状包括共济失调。在该疾病的背景下,已经提到了头孢曲松和抗生素、抗结核药物。附属组织包括桥脑和大脑,相关表型为智力障碍和癫痫。 PTCD – Pontine Tegmental Cap Dysplasia
Gnao1-Related Developmental Delay-Seizures-Movement Disorder Spectrum,也被称为Gnao1相关谱系。与Gnao1相关发育迟缓-癫痫-运动障碍谱系有关的重要基因是GNAO1(G蛋白亚基αO1)。 Gnao1-Related Developmental Delay-Seizures-Movement Disorder Spectrum
定性或定量缺陷的整合素α-7,也被称为整合素病。 Qualitative or Quantitative Defects of Integrin Alpha-7
Ablepharon-Macrostomia Syndrome, also known as ablepharon macrostomia syndrome, is related to barber-say syndrome and ectropion, and has symptoms including dry skin and eye manifestations. An important gene associated with Ablepharon-Macrostomia Syndrome is TWIST2 (Twist Family BHLH Transcription Factor 2), and among its related pathways/superpathways are O-linked glycosylation of mucins and Neurogenesis regulation in the olfactory epithelium. The drugs Cysteine and Riboflavin have been mentioned in the context of this disorder. Affiliated tissues include eye and skin, and related phenotypes are delayed speech and language development and microtia. AMS – Ablepharon-Macrostomia Syndrome
早老症与 xfe 早老症和小头症有关。与早老症有关的重要基因是 FBN1(纤维蛋白原 1),其相关通路/超通路包括 DNA 损伤和 DNA IR 损伤以及通过 ATR 的细胞反应。附属组织包括髓系和皮肤。 Progeroid Syndrome