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疾病英文名:FANCC - Fanconi Anemia, Complementation Group C 疾病分类:罕见病 血液系统疾病 骨骼肌类疾病 其他别名:Fanconi …
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早发性卵巢功能不全20,也称为pof20,与遗传性非获得性早发性卵巢功能不全有关。与早发性卵巢功能不全20有关的重要基因是MSH4(MutS同源物4)。附属组织包括卵巢,相关表型为女性不育和继发性闭经 POF20 – Premature Ovarian Failure 20
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive, also known as otospondylomegaepiphyseal dysplasia, is related to otospondylomegaepiphyseal dysplasia, autosomal dominant and sensorineural hearing loss, and has symptoms including arthralgia. An important gene associated with Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive is COL11A2 (Collagen Type XI Alpha 2 Chain), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include bone and heart, and related phenotypes are depressed nasal bridge and sensorineural hearing impairment. OSMEDB – Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
骨骺软骨瘤关联组织包括骨和指骨。 Phalanx Chondroma
眶周骨膜炎与骨膜炎和颅内脓肿有关。眶周骨膜炎相关的重要基因是CRP(C反应蛋白)。附属组织包括骨。 Orbital Periostitis
癫痫,进行性肌阵挛7型,也称为进行性肌阵挛癫痫7型,与进行性肌阵挛癫痫7型和乌尔里希特和伦博格的肌阵挛癫痫有关,症状包括震颤和肌阵挛。与癫痫,进行性肌阵挛7型有关的重要基因是KCNC1(钾电压门控通道C亚家族成员1)。附属组织包括大脑和肺,相关表型为共济失调和精神衰退。 EPM7 – Epilepsy, Progressive Myoclonic 7