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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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
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
--
9
28
7

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

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
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