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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
Orofaciodigital Syndrome Xiv (OFD14)
Alias:
Orofaciodigital Syndrome Type 14
Ofd14
Microcephaly-Cerebral Malformation-Orofaciodigital Syndrome
Oral-Facial-Digital Syndrome Type 14
Orofaciodigital Syndrome, Type Xiv
Orofaciodigital Syndrome 14
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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
第十四种口腔面部手足综合症,也被称为口腔面部手足综合症类型14。与第十四种口腔面部手足综合症相关的基因是C2CD3(C2域包含3中心粒延长调节器)。相关组织包括舌头和骨骼,相关表型包括智力障碍和睡眠呼吸暂停。
Related ID:
MALACARDS:ORF036
OMIM:615948
MESH:D009958
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
胎儿期
<1/1000000
1
8
4
ORF036
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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