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Dysspondyloenchondromatosis

Disease Export to PDF
Name:
Dysspondyloenchondromatosis
Description:
Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.
ORPHAcode:
85198
XREF(s):
Orphanet
ICD-10
Analyte(s):
COL2A1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14