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Orphanet Rare Disease Ontology
Last uploaded:
July 3, 2024
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| Preferred Name | Classical Ehlers-Danlos syndrome | |
| Synonyms |
Classical EDS cEDS |
|
| Definitions |
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_287 |
|
| alternative_term |
Classical EDS cEDS
|
|
| definition |
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility.
|
|
| definition_citation |
Orphanet
|
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=287 |
|
| has_age_of_onset |
Childhood Infancy Neonatal
|
|
| has_inheritance |
Autosomal dominant
|
|
| hasDbXref |
ICD-10:Q79.6 UMLS:C4225429 OMIM:130000 OMIM:130010 ICD-11:LD28.10
|
|
| label |
Classical Ehlers-Danlos syndrome
|
|
| notation |
ORPHA:287
|
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_180779 http://www.orpha.net/ORDO/Orphanet_98249 |
|
| prefixIRI |
ORDO:Orphanet_287
|
|
| prefLabel |
Classical Ehlers-Danlos syndrome
|
|
| present_in |
Worldwide AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 100 000
|
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_180779 http://www.orpha.net/ORDO/Orphanet_98249 |
|
| subClassOf |
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| Mapping To | Ontology | Source |
|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_287 | CCONT | SAME_URI |
| http://www.orpha.net/ORDO/Orphanet_287 | HSPO | SAME_URI |
| http://www.orpha.net/ORDO/Orphanet_287 | EFO | SAME_URI |
| http://www.orpha.net/ORDO/Orphanet_287 | HOOM | SAME_URI |
| http://purl.bioontology.org/ontology/ICD10CM/Q79.61 | ICD10CM | LOOM |