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Spondyloepiphyseal dysplasia congenita

Disease Export to PDF
Name:
Spondyloepiphyseal dysplasia congenita
Description:
Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.
ORPHAcode:
94068
Synonyms:
Congenital spondyloepiphyseal dysplasia
SEDC
Spranger-Wiedemann disease
XREF(s):
Orphanet
MedDRA
ICD-10
OMIM
MeSH
Analyte(s):
COL2A1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14