Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome

Alias:
Fatco Syndrome
Fibular Aplasia-Tibial Campomelia-Oligosyndactyly Syndrome
Hecht-Scott Syndrome
Hecht Scott 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
腓骨缺如、胫骨康普梅利亚和寡指症候群,也称为脂肪症候群,与短指-缺指伴腓骨缺如或发育不良和腓骨缺如或发育不良、股骨弓形弯曲和多、并、寡指有关。附属组织包括骨,相关表型为无手和异常腓骨形态

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
胎儿期
<1/1000000
--
--
5

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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