热门标签:
疾病英文名:PSS4 - Peeling Skin Syndrome 4 疾病分类:罕见病 皮肤外科疾病 其他别名:Exfoliative Ichthyosis, Autosoma…
疾病英文名:DEE107 - Developmental and Epileptic Encephalopathy 107 疾病分类:罕见病 肿瘤类疾病 其它疾病 其他别名:Dev…
疾病英文名:Laminin Subunit Alpha 2-Related Limb-Girdle Muscular Dystrophy R23 疾病分类:罕见病 骨骼肌类疾病 神…
疾病英文名:Generalized Peeling Skin Syndrome 疾病分类:罕见病 皮肤外科疾病 其他别名:Generalized Deciduous Skin Ge…
疾病英文名:Dissociative Seizures 疾病分类:罕见病 其他别名:Dissociative Convulsions Psychogenic Seizure 疾病简…
疾病英文名:SLSN6 - Senior-Loken Syndrome 6 疾病分类:罕见病 眼科疾病 肾脏类疾病 其他别名:Slsn6 Senior-Loken Syndrome…
疾病英文名:Partial Bilateral Aplasia of the Mullerian Ducts 疾病分类:罕见病 致命性疾病 生殖系统疾病 其他别名:Incomple…
疾病英文名:CMTDIG - Charcot-Marie-Tooth Disease, Dominant Intermediate G 疾病分类:罕见病 其它疾病 眼科疾病 其他别…
疾病英文名:PHLS - Pallister-Hall-Like Syndrome 疾病分类:罕见病 骨骼肌类疾病 内分泌类疾病 其他别名:Hamartoma of Hypotha…
疾病英文名:CFEOM2 - Fibrosis of Extraocular Muscles, Congenital, 2 疾病分类:罕见病 眼科疾病 致命性疾病 其他别名:Cfe…
免费咨询基因检测相关问题
二尖瓣狭窄,也称为二尖瓣狭窄,与风湿性心脏病和心源性休克有关。与二尖瓣狭窄相关的基因是 ATP2A2 (ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 2),其相关通路/超级通路包括信号转导和细胞质钙离子浓度升高的反应。在该疾病的背景下,已提到的药物有多巴胺和多巴酚丁胺。相关组织包括心脏和全血,相关表型是稳态/代谢和心血管系统。 Mitral Valve Stenosis
常染色体隐性短肢症,也称为短肢症、霍巴克/托莱多型,与短肢症和挛缩、翼状胬、脊柱、手足融合综合症1a有关。与常染色体隐性短肢症有关的重要基因是PAPSS2(3′-磷酸腺苷5′-磷酸硫酸合成酶2)。附属组织包括骨骼。 Autosomal Recessive Brachyolmia
Lissencephaly 6,也被称为lis6,与Lissencephaly 6伴有小头症和白质营养不良,11型低髓鞘性脑白质营养不良有关。与Lissencephaly 6有关的重要基因是KATNB1(Katanin Regulatory Subunit B1),其相关通路/超级通路是Ciliopathies。相关表型是四肢/手指/尾巴。 LIS6 – Lissencephaly 6
Hypoparathyroidism-Retardation-Dysmorphism Syndrome, also known as sanjad-sakati syndrome, is related to kenny-caffey syndrome, type 1 and hypoparathyroidism, and has symptoms including seizures. An important gene associated with Hypoparathyroidism-Retardation-Dysmorphism Syndrome is TBCE (Tubulin Folding Cofactor E), and among its related pathways/superpathways are Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding and Chaperonin-mediated protein folding. Affiliated tissues include eye and pituitary, and related phenotypes are intellectual disability and seizure. HRDS – Hypoparathyroidism-Retardation-Dysmorphism Syndrome
先天性股骨缺损,又称为近端股骨局灶性缺损,与股骨-腓骨-尺骨综合征和腓骨半肢畸形有关。附属组织包括骨和脑。 CPFD – Congenital Femoral Deficiency