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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Orofacial Cleft 8 (OFC8)
Alias:
Cleft Lip with or Without Cleft Palate, Nonsyndromic, 8
Ofc8
Non-Syndromic Cleft Lip with or Without Cleft Palate 8
Non-Syndromic Cleft Lip/palate 8
Orofacial Cleft, Type 8
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
Orofacial Cleft 8,也被称为唇裂合并或不合并腭裂,非综合征型,8号染色体,与拉普-霍奇金综合征和塞雷斯-桑塔马利亚阿里曼尼穆尼兹综合征有关。与Orofacial Cleft 8相关的基因是TP63(肿瘤蛋白P63)。相关表型是四肢/手指/尾巴和生长/大小/身体区域
Related ID:
MALACARDS:ORF016
OMIM:618149
MESH:D002971
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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7
56
2
ORF016
Medical Symptom
#
Categorization
Description
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Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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Mutations
No data available
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Name
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No data available
Disease Model
Category
Name
MGI
Related Gene
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Publications
No data available
References Literature
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No Data Found!
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