Vater/vacterl Association (VACTERL)

Alias:
Vater Association
Vacterl Association
Vacterl/vater Association
Vertebral Defects, Anal Atresia, Tracheoesophageal Fistula with Esophageal Atresia, Radial or Renal Dysplasia, Assoc.
Vacterl
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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
Vater/vacterl Association,又称Vater association,与vacterl association, x-linked, with or without hydrocephalus and vacterl association with hydrocephaly, x-linked有关。与Vater/vacterl Association有关的重要基因是FANCL(FA互补组L)。Niacin和Nicotinamide已在该疾病的背景下被提及。附属组织包括肾脏和心脏,相关表型为肛门闭锁和多羊水
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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新生儿
1-9/100000
6
45
16

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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