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loading...| Preferred Name |
Spondyloepiphyseal dysplasia congenita |
| ID |
http://www.orpha.net/ORDO/Orphanet_94068 |
| alternative_term |
Spranger-Wiedemann disease Congenital spondyloepiphyseal dysplasia SEDC |
| definition |
Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94068 |
| has_age_of_onset |
Neonatal |
| has_inheritance |
Autosomal dominant |
| hasDbXref |
ICD-10:Q77.7 MedDRA:10062920 MeSH:C535788 OMIM:183900 UMLS:C2745959 ICD-11:LD24.3 |
| label |
Spondyloepiphyseal dysplasia congenita |
| notation |
ORPHA:94068 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_94068 |
| prefLabel |
Spondyloepiphyseal dysplasia congenita |
| present_in |
Worldwide AND has_point_prevalence_range : Unknown Europe AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 |
| treeView | |
| subClassOf |
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