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疾病英文名:T1D15 - Type 1 Diabetes Mellitus 15 疾病分类:罕见病 血液系统疾病 内分泌类疾病 其他别名:Diabetes Mellitus, I…
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炎症性肠病8,也称为ibd8,与炎症性肠病有关。与炎症性肠病8有关的重要基因是IBD8(炎症性肠病8)。 IBD8 – Inflammatory Bowel Disease 8
血小板环磷酸腺苷环化酶活性与高苯丙氨酸血症、BH4缺乏症、A和创伤后应激障碍有关。与血小板环磷酸腺苷环化酶活性有关的重要基因是ADCY10(环磷酸腺苷环化酶10)。 Platelet Adenylate Cyclase Activity
Prolactinoma,又称为催乳素分泌垂体腺瘤,与催乳素分泌垂体肿瘤和垂体腺瘤1、多种类型有关。与Prolactinoma相关的重要基因是MEN1(Menin 1),其相关通路/超级通路包括GPCR下游信号转导和信号转导。在该疾病的背景下,已提到的药物有多巴胺和卡贝格林。附属组织包括垂体和乳腺,相关表型包括阳痿和乳溢。 PSPA – Prolactinoma
22号免疫缺陷,也被称为由于lck缺乏导致的严重联合免疫缺陷,症状包括腹泻。与22号免疫缺陷有关的重要基因是LCK(LCK原癌基因,Src家族酪氨酸激酶)。相关组织包括T细胞和骨髓,相关表型为生长发育不良和反复呼吸道感染。 IMD22 – Immunodeficiency 22
Juvenile Myelomonocytic Leukemia, also known as leukemia, juvenile myelomonocytic, is related to noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia and noonan syndrome 3, and has symptoms including fatigue, fever and exanthema. An important gene associated with Juvenile Myelomonocytic Leukemia is PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Omacetaxine mepesuccinate and Lenograstim have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and myeloid, and related phenotypes are juvenile myelomonocytic leukemia and Decreased viability. 少年髓系单核细胞白血病,也称为白血病、少年髓系单核细胞,与noonan综合征类似,可能伴有或不伴有少年髓系单核细胞白血病和noonan综合征3,症状包括疲劳、发热和皮疹。与少年髓系单核细胞白血病相关的基因是PTPN11(非受体酪氨酸磷酸酶11),其相关通路/超级通路包括先天免疫系统和ERK信号通路。在该疾病的背景下,已经提到了Omacetaxine mepesuccinate和Lenograstim这两种药物。相关组织包括骨髓和髓系,相关表型包括少年髓系单核细胞白血病和活力降低。 JMML – Juvenile Myelomonocytic Leukemia