loading...| Preferred Name |
Ehlers-Danlos syndrome |
|
| Synonyms |
Ehlers-Danlos Disease Danlos Disease, Ehlers Meekeren-Ehlers-Danlos syndrome Fibrodysplasia elastica generalisata skin elastic Ehlers Danlos syndrome Ehlers-Danlos syndromes Hereditary collagen dysplasia Ehler Danlos Syndrome Syndrome, Ehlers-Danlos Danlos disease danlos ehlers syndrome Disease, Ehlers Danlos Ehlers Danlos Disease Disease, Ehlers-Danlos Ehlers Danlos Syndrome elastic skin Dystrophia mesodermalis congenita EDS ED syndrome |
|
| Definitions |
The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0020066 |
|
| closeMatch | ||
| database_cross_reference |
icd11.foundation:1122707206 SCTID:398114001 OMIMPS:130000 ICD9:756.83 ICD10CM:Q79.6 Orphanet:98249 UMLS:C0013720 MESH:D004535 NANDO:2200607 MedDRA:10014316 NCIT:C34568 NANDO:1200645 DOID:13359 GARD:6322 NORD:1080 |
|
| definition |
The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. |
|
| exactMatch |
http://linkedlifedata.com/resource/umls/id/C0013720 http://identifiers.org/snomedct/398114001 http://purl.obolibrary.org/obo/DOID_13359 http://identifiers.org/mesh/D004535 https://omim.org/phenotypicSeries/PS130000 http://purl.obolibrary.org/obo/NCIT_C34568 |
|
| excluded_synonym |
India rubber skin Cutis hyperelastica |
|
| has_exact_synonym |
Ehlers-Danlos Disease Danlos Disease, Ehlers Meekeren-Ehlers-Danlos syndrome Fibrodysplasia elastica generalisata skin elastic Ehlers Danlos syndrome Ehlers-Danlos syndromes Hereditary collagen dysplasia Ehler Danlos Syndrome Syndrome, Ehlers-Danlos Danlos disease danlos ehlers syndrome Disease, Ehlers Danlos Ehlers Danlos Disease Disease, Ehlers-Danlos Ehlers Danlos Syndrome elastic skin Dystrophia mesodermalis congenita EDS |
|
| has_related_synonym |
ED syndrome |
|
| IAO_0000233 | ||
| id |
MONDO:0020066 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
Ehlers-Danlos syndrome |
|
| notation |
MONDO:0020066 |
|
| prefLabel |
Ehlers-Danlos syndrome |
|
| subClassOf |
http://www.ebi.ac.uk/efo/EFO_0000508 |
|
| excluded_subClassOf |