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疾病英文名:HNT - Hairy Nose Tip 疾病分类:罕见病 其它疾病 其他别名:Hnt 疾病简介:毛鼻尖基因,也称为hnt,与畸胎瘤和肌萎缩侧索硬化症1有关。相关表型为…
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罕见的非手术可纠正的原发性醛固酮增多症 Rare Non Surgically Correctable Form of Primary Aldosteronism
Fucosidosis, also known as alpha-l-fucosidase deficiency, is related to fabry disease and angiokeratoma, and has symptoms including seizures. An important gene associated with Fucosidosis is FUCA1 (Alpha-L-Fucosidase 1), and among its related pathways/superpathways are Diseases of glycosylation and Glycosaminoglycan metabolism. The drugs Methylprednisolone hemisuccinate and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include bone and skin, and related phenotypes are failure to thrive and hyperhidrosis. FUCA1D – Fucosidosis
原发性皮肤浆细胞瘤,又称为原发性皮肤浆细胞瘤,与外周浆细胞瘤和多克隆性高γ球蛋白血症有关。附属组织包括皮肤和骨骼。 Primary Cutaneous Plasmacytosis
线粒体和过氧化物酶体裂解缺陷性脑病与线粒体和过氧化物酶体裂解缺陷性脑病1和线粒体和过氧化物酶体裂解缺陷性脑病2有关。附属组织包括大脑。 Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect
鼻翼裂,孤立,也称为孤立鼻翼裂,与双鼻孔、常染色体隐性遗传和上唇和上颌的中线裂有关。附属组织包括眼睛和皮肤,相关表型为鼻翼裂。 Alar Cleft, Isolated