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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
Foveal Hypoplasia 2 (FVH2)
Alias:
Foveal Hypoplasia - Optic Nerve Decussation Defect - Anterior Segment Dysgenesis Syndrome
Foveal Hypoplasia and Anterior Segment Dysgenesis
Fhonda
Fvh2
Foveal Hypoplasia 2 with Optic Nerve Decussation Defects and Anterior Segment Dysgenesis Without Albinism
Hypoplasia, Foveal, Type 2, with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis
Foveal Hypoplasia, Optic Nerve Decussation Defects, and Anterior Segment Dysgenesis Without Albinism
Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis
Foveal Hypoplasia 2 with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis
Foveal Hypoplasia with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis
Foveal Hypoplasia 2 and Optic Nerve Misrouting with or Without Anterior Segment Dysgenesis
Foveal Hypoplasia-Optic Nerve Decussation Defect-Anterior Segment Dysgenesis Syndrome
Fhonda Syndrome
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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
视网膜发育不全2,也称为视网膜发育不全-视神经交叉缺陷-前节发育不良综合征,与白化病和前节发育不良有关。与视网膜发育不全2有关的重要基因是SLC38A8(转运蛋白家族38成员8)。相关组织包括眼睛和大脑皮层,相关表型包括小眼症和后胚胎性瞳孔。
Related ID:
MALACARDS:FVL008
OMIM:609218
MESH:D015785
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
1
6
6
FVL008
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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