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疾病英文名:Trimellitic Anhydride Allergic Asthma 疾病分类:非罕见病 免疫系统疾病 呼吸道疾病 其他别名:Allergic Asthma to…
疾病英文名:Drug- or Toxin-Induced Pulmonary Arterial Hypertension 疾病分类:罕见病 呼吸道疾病 其他别名:Drug- or …
疾病英文名:LC - Laryngeal Cleft 疾病分类:罕见病 致命性疾病 呼吸道疾病 其他别名:Laryngo-Tracheo-Esophageal Diastema L…
疾病英文名:Syndromic Respiratory or Mediastinal Malformation 疾病分类:罕见病 致命性疾病 呼吸道疾病 其他别名: 疾病简介:综合…
疾病英文名:Lethal Midline Granuloma 疾病分类:罕见病 肿瘤类疾病 呼吸道疾病 其他别名:Granuloma, Lethal Midline Midfaci…
疾病英文名:Growth Retardation Hydrocephaly Lung Hypoplasia 疾病分类:罕见病 呼吸道疾病 其他别名: 疾病简介:生长迟缓、脑积水、肺…
疾病英文名:Acute Laryngopharyngitis 疾病分类:非罕见病 呼吸道疾病 其他别名:Pharyngolaryngitis Laryngopharyngitis …
疾病英文名:LIPT1D - Lipoyltransferase 1 Deficiency 疾病分类:罕见病 骨骼肌类疾病 呼吸道疾病 其他别名:Lipoyl Transferas…
疾病英文名:Persistent Moderate Asthma 疾病分类:非罕见病 呼吸道疾病 其他别名: 疾病简介:持续性中度哮喘与慢性哮喘和胰腺活性肠肽产生肿瘤有关。与持续性…
疾病英文名:Collagen Vi-Related Dystrophies 疾病分类:非罕见病 骨骼肌类疾病 呼吸道疾病 其他别名:Collagen 6-Related Myopa…
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Udd 骨骼肌远端型肌病 – 胫肌营养不良,也称为 Udd 肌病,与胫肌营养不良、迟发性、神经元性、5 号相关联。附属组织包括骨骼肌。 Udd Distal Myopathy – Tibial Muscular Dystrophy
先天性良性脊髓性肌萎缩显性 Congenital Benign Spinal Muscular Atrophy Dominant
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant, also known as weissenbacher-zweymuller syndrome, is related to otospondylomegaepiphyseal dysplasia, autosomal recessive and cleft palate, isolated, and has symptoms including arthralgia. An important gene associated with Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant is COL11A2 (Collagen Type XI Alpha 2 Chain), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drugs Temazepam and D-Threonine have been mentioned in the context of this disorder. Affiliated tissues include bone and eye, and related phenotypes are sensorineural hearing impairment and cleft palate. OSMEDA – Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
硫嘌呤类药物不良代谢2型,也称为nudt15缺陷,与中性粒细胞减少症和脱发有关。与硫嘌呤类药物不良代谢2型有关的重要基因是NUDT15(Nudix水解酶15)。 THPM2 – Thiopurines, Poor Metabolism of, 2
痉挛性截瘫5b,也称为常染色体隐性遗传性痉挛性截瘫5b。与痉挛性截瘫5b有关的重要基因是SPG5B(常染色体隐性遗传性痉挛性截瘫5b)。 Spastic Paraplegia 5b