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疾病英文名:RP3 - Retinitis Pigmentosa 3 疾病分类:罕见病 骨骼肌类疾病 其它疾病 其他别名:Rp3 Choroidoretinal Degenerat…
疾病英文名:Colonic Atresia 疾病分类:罕见病 致命性疾病 其他别名: 疾病简介:结肠闭锁与希恩氏病1和胃壁缺陷有关。相关组织包括结肠和脊髓,相关表型为胃溃疡和结肠闭…
疾病英文名:BMND18 - Bone Mineral Density Quantitative Trait Locus 18 疾病分类:罕见病 骨骼肌类疾病 致命性疾病 其他别名…
疾病英文名:XLID14 - Intellectual Developmental Disorder, X-Linked 14 疾病分类:罕见病 神经精神疾病 其他别名:Xlid1…
疾病英文名:Syndromic X-Linked Intellectual Disability 12 疾病分类:罕见病 眼科疾病 致命性疾病 其他别名:X-Linked Inte…
疾病英文名:Mental Retardation and Psoriasis 疾病分类:非罕见病 神经精神疾病 其他别名:Tranebjaerg Svejgaard Syndrom…
疾病英文名:Reticuloendotheliosis, X-Linked 疾病分类:罕见病 其他别名:Reticuloendotheliosis 疾病简介:X-连锁网状内皮细胞增…
疾病英文名:RP2 - Retinitis Pigmentosa 2 疾病分类:罕见病 骨骼肌类疾病 其它疾病 其他别名:Rp2 X-Linked Retinitis Pigmen…
疾病英文名:DUP - Chromosome Xq25 Duplication Syndrome 疾病分类:罕见病 致命性疾病 神经精神疾病 其他别名:Xq25 Microdupl…
疾病英文名:IMD98 - Immunodeficiency 98 with Autoinflammation, X-Linked 疾病分类:非罕见病 骨骼肌类疾病 免疫系统疾病 …
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Paget’s Disease of Bone, also known as osteitis deformans, is related to inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2 and multisystem proteinopathy, and has symptoms including back pain, sciatica and muscle cramp. An important gene associated with Paget’s Disease of Bone is SQSTM1 (Sequestosome 1), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Neuroscience. The drugs Zoledronic acid and Alendronic acid have been mentioned in the context of this disorder. Affiliated tissues include bone and spinal cord, and related phenotypes are Negative genetic interaction between BLM-/- and BLM+/+ and shRNA abundance <= 50%. PDB - Paget's Disease of Bone
智力发育障碍,X连锁,综合征17,也称为智力发育障碍,X连锁综合征17,与X连锁综合征性智力障碍17有关。与智力发育障碍,X连锁,综合征17有关的重要基因是MRXS17(X连锁精神发育迟滞,综合征17)。相关表型为智力障碍和吞咽困难 MRXS17 – Intellectual Developmental Disorder, X-Linked, Syndromic 17
脊柱-骨骺-骨骺发育不良,Faden-Alkuraya 型,也称为进行性脊柱-骨骺-骨骺发育不良-短身高-短第四跖骨-智力障碍综合征,与股骨内翻和Pyle病有关。与脊柱-骨骺-骨骺发育不良,Faden-Alkuraya 型相关的基因是RSPRY1(环指和SPRY域包含1)。附属组织包括骨和脑,相关表型为前额突出和短颈 SEMDFA – Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
肌萎缩侧索硬化症18,也称为肌萎缩侧索硬化症18,与侧索硬化症和肌萎缩侧索硬化症1有关。与肌萎缩侧索硬化症18有关的重要基因是PFN1(profilin 1),其相关通路/超级通路包括肌萎缩侧索硬化症(ALS)。附属组织包括脊髓和大脑,相关表型包括痉挛和言语障碍。 ALS18 – Amyotrophic Lateral Sclerosis 18
Hamanishi Ueba Tsuji 综合征,又称先天性手指和拇指伸展肌缺如伴全身性多发性神经病,与手指伸展肌缺如、单侧、伴全身性多发性神经病和多发性神经病有关。附属组织包括骨骼肌。 Hamanishi Ueba Tsuji Syndrome