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疾病英文名:NSHA - Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 疾病分类:罕见病 血液系统疾病 其他别名…
疾病英文名:Radial Hemimelia 疾病分类:罕见病 骨骼肌类疾病 致命性疾病 其他别名:Radial Clubhand Congenital Absence of Ra…
疾病英文名:CSO - Craniosynostosis 疾病分类:罕见病 骨骼肌类疾病 眼科疾病 其他别名:Premature Closure of Cranial Suture…
疾病英文名:GBBB - Opitz Gbbb Syndrome 疾病分类:罕见病 眼科疾病 致命性疾病 其他别名:Opitz G/bbb Syndrome Hypertelori…
疾病英文名:LISX1 - Lissencephaly, X-Linked, 1 疾病分类:罕见病 内分泌类疾病 致命性疾病 其他别名:Lissencephaly Type 1 D…
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脑回发育不全伴小脑发育不良型F,关联组织包括大脑和皮层。 Lissencephaly with Cerebellar Hypoplasia Type F
脑膜膨出,也被称为孤立性脊柱裂,与侧脑膜膨出综合症和颈部开放性脊柱裂有关。与脑膜膨出相关的基因是MNX1(运动神经元和胰腺同源盒1),其相关通路/超级通路包括Wnt / Hedgehog / Notch和基因调控网络建模体节形成。在该疾病的背景下,提到的药物有乙酰胆碱和奥昔布宁。附属组织包括脊髓和骨髓,相关表型为神经系统和四肢/手指/尾巴。 Meningocele
短肢畸形伴短指(趾)症与短指(趾)症A7型和短肢畸形伴短指(趾)症伴额外骨表现有关。附属组织包括骨骼。 Dysostosis with Brachydactyly
Oculotrichodysplasia, also known as cecato de lima-pinheiro syndrome, is related to retinitis pigmentosa and hypotrichosis 7. Affiliated tissues include skin and eye, and related phenotypes are carious teeth and dry skin. OTD – Oculotrichodysplasia
Pycnodysostosis, also known as pyknodysostosis, is related to osteomyelitis and cleidocranial dysplasia 1, and has symptoms including grooving of nail. An important gene associated with Pycnodysostosis is CTSK (Cathepsin K), and among its related pathways/superpathways are Clock-controlled autophagy in bone metabolism and IL6-mediated signaling events. Affiliated tissues include bone and skin, and related phenotypes are frontal bossing and brachydactyly. PKND – Pycnodysostosis