Frontonasal Dysplasia 2 (FND2)

Alias:
Frontonasal Dysplasia with Alopecia and Genital Anomaly
Fnd2
Craniofrontonasal Dysplasia with Alopecia and Hypogonadism
Frontonasal Dysplasia with Alopecia and Genital Abnomality
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Dysplasia, Frontonasal, Type 2
Frontonasal Dysplasia Type 2
Alx4-Related Fndag
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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
额鼻发育不全2,也称为伴有脱发和生殖器异常的额鼻发育不全,与顶孔和额颞宽有关。额鼻发育不全2的一个重要基因是ALX4(ALX同源盒4),其相关通路/超通路包括SARS潜在治疗和11p11.2拷贝数变异综合征。相关组织包括骨和皮肤,相关表型包括眼震和鼻梁下陷。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
7
30
4

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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