Beukes Hip Dysplasia (HDB)

Beukes Hip Dysplasia(来自ICD-11)
别称:
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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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Beukes Hip Dysplasia, also known as hip dysplasia, beukes type, is related to birt-hogg-dube syndrome 1 and multiple fibrofolliculoma familial. An important gene associated with Beukes Hip Dysplasia is UFSP2 (UFM1 Specific Peptidase 2). Affiliated tissues include bone, and related phenotypes are hip dysplasia and abnormality of bone mineral density
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基础信息

遗传方式
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参考文献
MALACARDS
AD
Child
--
9
28
7

疾病表征

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基因 & 突变

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靶点药物

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疾病模型

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MGI
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