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