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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 1 (OFC1)
Alias:
Cleft Lip with or Without Cleft Palate, Nonsyndromic, 1
Nonsyndromic Cleft Lip with or Without Cleft Palate 1
Cleft Lip/palate, Nonsyndromic
Orofacial Cleft, Nonsyndromic
Nonsyndromic Cleft Lip Palate
Otofaciocervical Syndrome 1
Orofacial Cleft-1
Ofc1
Ofc
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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 1(又称唇裂合并或不合并腭裂,非综合征型,1型)与唇裂和唇裂合并或不合并腭裂有关。与Orofacial Cleft 1相关的基因是ACSS2(短链酰基辅酶A合成酶家族成员2)。相关组织包括舌和脑,相关表型为腭裂和上唇裂。
Related ID:
MALACARDS:ORF048
OMIM:119530
MESH:C566121
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
18
136
52
ORF048
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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