Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Name: |
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
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Description: |
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.
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ORPHAcode: |
93279
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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