Blount's Disease

Alias:
Blount Disease
Osteochondrosis Deformans Tibiae
Infantile Tibia Vara
Tibia Vara Blount
Osteochondrosis Deformans Tibiae, Familial Infantile Type
Familial Infantile Type Osteochondrosis Deformans Tibiae
Blount Disease, Infantile
Tibia Vara
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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
布隆氏病,又称布隆病,与普拉德-威利综合症和骨软骨病有关。与布隆氏病有关的重要基因是FRYL(FRY样转录共激活因子),其相关通路/超通路包括G alpha (s)信号转导事件和FGF23信号通路在低磷性佝偻病及相关疾病中。附属组织包括骨和胫骨,相关表型为胫骨弯曲和膝部异常。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
婴儿期
--
11
97
--

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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