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疾病英文名:FCED - Fuchs' Endothelial Dystrophy 疾病分类:罕见病 眼科疾病 神经精神疾病 其他别名:Fuchs Endothelial Corn…
疾病英文名:MSA1 - Multiple System Atrophy 1 疾病分类:罕见病 神经精神疾病 其他别名:Multiple System Atrophy Shy-Dr…
疾病英文名:FMPP - Precocious Puberty, Male-Limited 疾病分类:罕见病 内分泌类疾病 其他别名:Testotoxicosis Familial…
疾病英文名:WAS - Wiskott-Aldrich Syndrome 疾病分类:罕见病 血液系统疾病 肿瘤类疾病 其他别名:Eczema-Thrombocytopenia-Im…
疾病英文名:Osteopathia Striata with Pigmentary Dermopathy Including White Forelock 疾病分类:罕见病 骨骼肌…
疾病英文名:Cerebral Sarcoma 疾病分类:罕见病 肿瘤类疾病 其他别名: 疾病简介:脑部肉瘤与脑炎有关。附属组织包括松果体和大脑。 遗传模式:Autosomal Do…
疾病英文名:Hereditary Central Diabetes Insipidus 疾病分类:罕见病 内分泌类疾病 肾脏类疾病 其他别名:Hereditary Neurogen…
疾病英文名:Tooth Agenesis 疾病分类:罕见病 其他别名:Oligodontia Hypodontia Selective Tooth Agenesis Tooth A…
疾病英文名:PEOB2 - Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autos…
疾病英文名:Cleft Soft Palate 疾病分类:罕见病 致命性疾病 其他别名:Cleft Velum Palatinum Cleft Velum Soft Palate …
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非综合征性肛门直肠畸形合并直肠闭锁,也称为非综合征性肛门直肠闭锁。 Non-Syndromic Anorectal Malformation with Rectal Atresia
Metatropic Dysplasia, also known as metatropic dwarfism, is related to hereditary motor and sensory neuropathy, type iic and spondyloepiphyseal dysplasia, maroteaux type. An important gene associated with Metatropic Dysplasia is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and CREB Pathway. Affiliated tissues include bone and spinal cord, and related phenotypes are scoliosis and kyphosis. MTD – Metatropic Dysplasia
唇裂合并或不合并腭裂,也称为唇裂合并/不合并腭裂,与口腔颌裂1和膝关节翼状胬综合征有关。与唇裂合并或不合并腭裂有关的重要基因是CTNND1(钙粘蛋白δ1),其相关通路/超级通路包括神经嵴分化和翻译后调节粘附连接的稳定性和解体。附属组织包括全血和心脏,相关表型是非中线唇裂和听力障碍。 Cleft Lip with or Without Cleft Palate
喉气管血管瘤,也称为喉气管血管瘤。相关表型为喘鸣和咳嗽 Laryngotracheal Angioma
阿克罗米克病,也称为阿克米克病,与主动脉瘤、家族性胸4和马凡综合症有关,其症状包括嘶哑和皮肤增厚。与阿克罗米克病有关的重要基因是FBN1(纤维蛋白1),其相关通路/超级通路包括蛋白质代谢和疾病。附属组织包括骨和皮肤,相关表型为短鼻和反向鼻孔 ACMICD – Acromicric Dysplasia