Osteoarthritis with Mild Chondrodysplasia (OSCDP)

Alias:
Namaqualand Hip Dysplasia
Oscdp
Nhd
Mild Spondyloepiphyseal Dysplasia Due to Col2a1 Mutation with Early-Onset Osteoarthritis
Osteoarthritis, with Mild Chondrodysplasia
Degenerative Polyarthritis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Osteoarthritis with Mild Chondrodysplasia, also known as namaqualand hip dysplasia, is related to polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 and arthropathy, and has symptoms including angina pectoris, back pain and muscle cramp. An important gene associated with Osteoarthritis with Mild Chondrodysplasia is COL2A1 (Collagen Type II Alpha 1 Chain). Affiliated tissues include bone, and related phenotypes are joint stiffness and beaking of vertebral bodies
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
<1/1000000
1
19
13

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
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No data available

Related Drugs

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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
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IF
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