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疾病英文名:Muscular Dystrophy, Mabry Type 疾病分类:非罕见病 骨骼肌类疾病 其他别名: 疾病简介:肌营养不良症(马布里型相关表型)是迟发性肌营养不良…
疾病英文名:XLID98 - Intellectual Developmental Disorder, X-Linked 98 疾病分类:罕见病 神经精神疾病 其他别名:X-Lin…
疾病英文名:THAS - Thoracoabdominal Syndrome 疾病分类:罕见病 致命性疾病 其他别名:Pentalogy of Cantrell Thoraco-A…
疾病英文名:XLI - Ichthyosis, X-Linked 疾病分类:罕见病 眼科疾病 皮肤外科疾病 其他别名:X-Linked Ichthyosis Placental S…
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脊髓小脑性共济失调27型,又称SCAR27,与遗传性共济失调和常染色体显性小脑性共济失调有关。与脊髓小脑性共济失调27型有关的重要基因是GDAP2(神经节苷脂诱导分化相关蛋白2)。附属组织包括脊髓和小脑,相关表型为痉挛和高反射。 SCAR27 – Spinocerebellar Ataxia, Autosomal Recessive 27
进行性非感染性前椎融合,也称为哥本综合症,与腺样肥大和脑血管疾病有关。这种疾病的药物包括钙化二醇和胆骨化醇。相关的组织包括骨和心脏,相关的表型包括脊柱侧弯和脊柱后凸。 Progressive Non-Infectious Anterior Vertebral Fusion
腹裂,也称为头腹裂,是与胃裂和脐疝相关的头腹褶缺陷。附属组织包括肝脏。 Paraomphalocele
Osteopetrosis, Autosomal Recessive 1, also known as autosomal recessive osteopetrosis 1, is related to autosomal recessive malignant osteopetrosis and osteopetrosis, autosomal recessive 5, and has symptoms including ophthalmoplegia. An important gene associated with Osteopetrosis, Autosomal Recessive 1 is TCIRG1 (T Cell Immune Regulator 1, ATPase H+ Transporting V0 Subunit A3), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Signaling by Receptor Tyrosine Kinases. The drug Levoleucovorin has been mentioned in the context of this disorder. Affiliated tissues include bone and bone marrow, and related phenotypes are macrocephaly and hydrocephalus. OPTB1 – Osteopetrosis, Autosomal Recessive 1
ehrlichiosis(人埃立克体病),又称human ehrlichiosis(人埃立克体病),与human monocytic ehrlichiosis(人单核细胞埃立克体病)和tick infestation(蜱虫感染)有关,症状包括fatigue(疲劳)、headache(头痛)和rash(皮疹)。与ehrlichiosis(人埃立克体病)相关的基因是NSUN5(NOP2/Sun RNA Methyltransferase 5),其相关通路/超级通路包括T-cell activation(T细胞激活)、SARS-CoV-2(严重急性呼吸系统综合征冠状病毒2)和Hematopoietic Stem Cells and Lineage-specific Markers(造血干细胞和谱系特异性标记)。相关组织包括skin(皮肤)和monocytes(单核细胞)。 HE – Ehrlichiosis