loading...| Preferred Name | Spondyloepiphyseal dysplasia tarda | |
| Synonyms |
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| Definitions |
Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_93284 |
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| definition |
Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest. |
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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=93284 |
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| has_age_of_onset |
Adolescent Adult |
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| has_inheritance |
Autosomal recessive X-linked recessive Autosomal dominant |
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| hasDbXref |
OMIM:313400 OMIM:271600 ICD-10:Q77.7 OMIM:184100 ICD-11:LD24.3 |
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| label |
Spondyloepiphyseal dysplasia tarda |
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| notation |
ORPHA:93284 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_93284 |
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| prefLabel |
Spondyloepiphyseal dysplasia tarda |
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| present_in |
Worldwide AND has_point_prevalence_range : 1-9 / 1 000 000 |
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| treeView | ||
| subClassOf |