Klippel-Feil Syndrome 2, Autosomal Recessive (KFS2)

Alias:
Klippel-Feil Syndrome 2
Cervical Vertebral Fusion Autosomal Recessive
Kfs2
Klippel-Feil Syndrome, Type 2, Autosomal Recessive
Cervical Vertebral Fusion, Autosomal Recessive
Klippel Feil Syndrome Recessive Type
Kfs, Autosomal Recessive
Kfs Autosomal Recessive
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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
克利佩尔-菲耳综合症2,常染色体隐性,也被称为克利佩尔-菲耳综合症2,与脊柱骨发育不全6,常染色体隐性和克利佩尔-菲耳综合症有关。与克利佩尔-菲耳综合症2,常染色体隐性相关的基因是MEOX1(间充质同源盒1)。相关组织包括骨骼,相关表型是肌肉。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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4
17
12

Medical Symptom

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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

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CAS Number
Status
Phase
No data available

Disease Model

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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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