Beukes Hip Dysplasia (HDB)

Alias:
Hip Dysplasia, Beukes Type
Beukes Familial Hip Dysplasia
Bfhd
Premature Degenerative Osteoarthropathy of the Hip
Cilliers-Beighton Syndrome
Osteoarthropathy, Premature Degenerative, of Hip
Premature Degenerative Osteoarthropathy
Dysplasia, Hip, Beukes Type
Beukes Type Hip Dysplasia
Hip Dysplasia Beukes Type
Bhd
Hdb
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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
布克氏髋关节发育不良,又称髋关节发育不良、布克氏型,与1型布-霍-杜综合征和家族性多发性纤维瘤病有关。与布克氏髋关节发育不良有关的重要基因是UFSP2(尿嘧啶结合蛋白1特异性肽酶2)。相关组织包括骨,相关表型为髋关节发育不良和骨矿物质密度异常。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
孩童期
--
9
28
7

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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