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疾病英文名:MRMV1 - Mirror Movements 1 疾病分类:罕见病 神经精神疾病 其他别名:Congenital Mirror Movement Disorder …
疾病英文名:Idiopathic/heritable Pulmonary Arterial Hypertension 疾病分类:罕见病 呼吸道疾病 其他别名:Idiopathic …
疾病英文名:Infantile Myofibromatosis 疾病分类:罕见病 骨骼肌类疾病 肿瘤类疾病 其他别名:Lipofibromatosis Myofibromatosi…
疾病英文名:Dextrocardia with Situs Inversus 疾病分类:罕见病 心血管疾病 致命性疾病 其他别名:Situs Inversus Totalis Co…
疾病英文名:GLSP - Gillespie Syndrome 疾病分类:罕见病 眼科疾病 致命性疾病 其他别名:Aniridia, Cerebellar Ataxia and M…
疾病英文名:Reticular Dystrophy of Retinal Pigment Epithelium 疾病分类:罕见病 眼科疾病 其他别名:Reticular Dystr…
疾病英文名:Familial Syringomyelia 疾病分类:罕见病 致命性疾病 神经精神疾病 其他别名: 疾病简介:家族性脊髓空洞症与脊髓空洞症和特发性脊髓空洞症有关。关联…
疾病英文名:SPG72 - Hereditary Spastic Paraplegia 72 疾病分类:罕见病 骨骼肌类疾病 其它疾病 其他别名:Autosomal Spastic…
疾病英文名:Localized Dystrophic Epidermolysis Bullosa 疾病分类:罕见病 肿瘤类疾病 致命性疾病 其他别名:Localized Deb 疾…
疾病英文名:FPS - Fontaine Progeroid Syndrome 疾病分类:罕见病 眼科疾病 致命性疾病 其他别名:Gorlin-Chaudhry-Moss Synd…
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1号巨脑-多小脑-多指-脑积水综合征,也称为巨脑-多小脑-多指-脑积水综合征,与巨脑和巨脑-毛细血管畸形-多小脑综合征有关,症状包括癫痫发作。与1号巨脑-多小脑-多指-脑积水综合征相关的重要基因是PIK3R2(磷脂酰3激酶调节亚基2),其相关通路/超级通路包括G蛋白偶受通路和催乳素信号通路。相关组织包括大脑和舌,相关表型为巨脑和巨脑症。 MPPH1 – Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Tubulinopathy-相关性Dysgyria,也被称为脑干不对称-上脑干和基底节发育不良综合征,与微管、β和外斜视有关。与Tubulinopathy-相关性Dysgyria有关的重要基因是TUBA1A(微管α1a),其相关通路/超通路包括神经系统发育和Rho GTPases信号传导。附属组织包括大脑和小脑,相关表型包括全球发育延迟和小头症。 Tubulinopathy-Associated Dysgyria
威登-劳滕施拉赫综合症,也被称为新生儿伪脑积水性早老症,与马凡型早老症-脂肪代谢障碍综合症和早老症综合症有关,症状包括动作震颤和共济失调,躯干。与威登-劳滕施拉赫综合症有关的重要基因是POLR3A(RNA聚合酶III亚基A)。附属组织包括皮肤和骨骼,相关表型是前额突出和宽头。 WDRTS – Wiedemann-Rautenstrauch Syndrome
面部畸形、晶状体脱位、前段异常和自发性滤泡肿胀,也称为Traboulsi综合征,与孤立性晶状体脱位和Velocardiofacial综合征有关。与面部畸形、晶状体脱位、前段异常和自发性滤泡肿胀有关的重要基因是ASPH(天冬氨酸β羟化酶)。附属组织包括眼睛,相关表型是小眼症和宽鼻。 FDLAB – Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs
Papillorenal Syndrome, also known as renal coloboma syndrome, is related to focal segmental glomerulosclerosis 7 and coloboma of optic nerve. An important gene associated with Papillorenal Syndrome is PAX2 (Paired Box 2), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and Neural Stem Cells and Lineage-specific Markers. The drugs Pembrolizumab and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include kidney and eye, and related phenotypes are renal insufficiency and optic nerve dysplasia. Papillorenal Syndrome, also known as renal coloboma syndrome, is related to focal segmental glomerulosclerosis 7 and coloboma of optic nerve. An important gene associated with Papillorenal Syndrome is PAX2 (Paired Box 2), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and Neural Stem Cells and Lineage-specific Markers. The drugs Pembrolizumab and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include kidney and eye, and related phenotypes are renal insufficiency and optic nerve dysplasia. Papillorenal Syndrome, also known as renal coloboma syndrome, is related to focal segmental glomerulosclerosis 7 and coloboma of optic nerve. An important gene associated with Papillorenal Syndrome is PAX2 (Paired Box 2), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and Neural Stem Cells and Lineage-specific Markers. The drugs Pembrolizumab and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include kidney and eye, and related phenotypes are renal insufficiency and optic nerve dysplasia. Papillorenal Syndrome, also known as renal coloboma syndrome, is related to focal segmental glomerulosclerosis 7 and coloboma of optic nerve. An important gene associated with Papillorenal Syndrome is PAX2 (Paired Box 2), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers PAPRS – Papillorenal Syndrome