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Orphanet Rare Disease Ontology
| Preferred Name | Ehlers-Danlos syndrome | |
| Synonyms |
EDS |
|
| Definitions |
A heterogeneous group of diseases characterized by fragility of the soft connective tissues resulting in widespread skin, ligament, joint, blood vessel and/or internal organ manifestations. Clinical spectrum is highly variable, ranging from mild skin and joint hyperlaxity to severe physical disability and life-threatening vascular complications. Overlap with osteogenesis imperfecta may be observed resulting in an EDS/osteogenesis imperfecta overlap phenotype. Diseases in this group include classical Ehlers-Danlos syndrome (EDS), musculocontractural EDS, hypermobile EDS, vascular EDS, arthrochalasia EDS, dermatosparaxis EDS, periodontal EDS, X-linked EDS, brittle cornea syndrome, classical-like EDS type 1 and type 2, cardiac-valvular EDS, spondylodysplastic EDS, myopathic EDS, and kyphoscoliotic EDS. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_98249 |
|
| alternative_term |
EDS
|
|
| definition |
A heterogeneous group of diseases characterized by fragility of the soft connective tissues resulting in widespread skin, ligament, joint, blood vessel and/or internal organ manifestations. Clinical spectrum is highly variable, ranging from mild skin and joint hyperlaxity to severe physical disability and life-threatening vascular complications. Overlap with osteogenesis imperfecta may be observed resulting in an EDS/osteogenesis imperfecta overlap phenotype. Diseases in this group include classical Ehlers-Danlos syndrome (EDS), musculocontractural EDS, hypermobile EDS, vascular EDS, arthrochalasia EDS, dermatosparaxis EDS, periodontal EDS, X-linked EDS, brittle cornea syndrome, classical-like EDS type 1 and type 2, cardiac-valvular EDS, spondylodysplastic EDS, myopathic EDS, and kyphoscoliotic EDS.
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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=98249 |
|
| has_age_of_onset |
Infancy Neonatal
|
|
| has_inheritance |
Autosomal recessive X-linked recessive Autosomal dominant
|
|
| hasDbXref |
ICD-10:Q79.6 MeSH:D004535 ICD-11:LD28.1 UMLS:C0013720 MedDRA:10014316
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|
| label |
Ehlers-Danlos syndrome
|
|
| notation |
ORPHA:98249 Clinical group
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|
| prefixIRI |
ORDO:Orphanet_98249
|
|
| prefLabel |
Ehlers-Danlos syndrome
|
|
| present_in |
Europe AND has_birth_prevalence_average_value : 0.9 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown
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| subClassOf |
http://www.orpha.net/ORDO/Orphanet_139030 http://www.orpha.net/ORDO/Orphanet_139027 http://www.orpha.net/ORDO/Orphanet_182222 http://www.orpha.net/ORDO/Orphanet_228215 |
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