Orofaciodigital Syndrome Xi (OFD11)

Alias:
Ofd11
Oral-Facial-Digital Syndrome, Gabrielli Type
Orofaciodigital Syndrome, Gabrielli Type
Oral-Facial-Digital Syndrome Type 11
Orofaciodigital Syndrome Type 11
Orofaciodigital Syndrome 11
Oral-Facial-Digital Syndrome with Skeletal Anomalies
Oral-Facial-Digital Syndrome, Type Xi
Gabrielli Syndrome
Ofds Xi
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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
Orofaciodigital Syndrome Xi,也被称为ofd11,与口腔面部数字综合症和宽鼻梁有关。附属组织包括骨和心脏,相关表型为癫痫和宽鼻梁。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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新生儿
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3

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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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

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PMID
Journal
Year
IF
No Data Found!
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