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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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Mbd5 haploinsufficiency, also known as 2q23.1 microdeletion syndrome, is related to microcephaly and intellectual developmental disorder, autosomal dominant 1. An important gene associated with Mbd5 Haploinsufficiency is MBD5 (Methyl-CpG Binding Domain Protein 5). Affiliated tissues include heart and eye, and related phenotypes are seizure and global developmental delay. MAND – Mbd5 Haploinsufficiency
母体疾病相关胚胎-胎儿病与热应激诱导的缺陷和母体热应激诱导的出生缺陷有关。 Maternal Disease-Related Embryofetopathy
Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma, also known as balikova-vermeesch syndrome, is a genetic disorder. The MNDEC gene is associated with this condition. Affected tissues include the eye, and related phenotypes include microtia and lacrimal duct atresia. Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma
小脑面牙综合征,也称为小脑面牙综合征,与多核糖体相关性白质营养不良和脱髓性白质营养不良有关。与小脑面牙综合征相关的重要基因是 BRF1(BRF1 RNA 转录酶 III 启动子因子亚基),其相关通路/超级通路包括基因表达(转录)和胞质传感器病原体相关 DNA。附属组织包括脑桥和骨,相关表型包括脊柱侧弯和全球发育延迟 CFDS – Cerebellofaciodental Syndrome
脑积水肥胖性性腺功能减退症,又称脑积水-肥胖-性腺功能减退症,与脑积水和性腺功能减退症有关。附属组织包括下丘脑和垂体,相关表型为脑积水和短颈 Hydrocephalus Obesity Hypogonadism