loading...| Preferred Name |
Ehlers-Danlos syndrome |
|
| Synonyms |
Danlos disease skin elastic Ehlers Danlos syndrome Ehler Danlos Syndrome Ehlers Danlos Disease Hereditary collagen dysplasia EDS Disease, Ehlers-Danlos Ehlers-Danlos Disease Fibrodysplasia elastica generalisata elastic skin Meekeren-Ehlers-Danlos syndrome Disease, Ehlers Danlos danlos ehlers syndrome Danlos Disease, Ehlers Dystrophia mesodermalis congenita Syndrome, Ehlers-Danlos Ehlers-Danlos syndromes 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 |
http://identifiers.org/snomedct/157008000 http://identifiers.org/snomedct/238848002 |
|
| database_cross_reference |
ICD9:756.83 SCTID:398114001 GARD:0006322 COHD:79145 MESH:D004535 OMIMPS:130000 DOID:13359 ICD10:Q79.6 UMLS:C0013720 MedDRA:10014316 NCIT:C34568 Orphanet:98249 |
|
| exactMatch |
http://linkedlifedata.com/resource/umls/id/C0013720 http://identifiers.org/meddra/10014316 http://identifiers.org/snomedct/398114001 http://purl.obolibrary.org/obo/DOID_13359 http://identifiers.org/mesh/D004535 |
|
| excluded_synonym |
India rubber skin Cutis hyperelastica |
|
| has exact synonym |
Danlos disease skin elastic Ehlers Danlos syndrome Ehler Danlos Syndrome Ehlers Danlos Disease Hereditary collagen dysplasia EDS Disease, Ehlers-Danlos Ehlers-Danlos Disease Fibrodysplasia elastica generalisata elastic skin Meekeren-Ehlers-Danlos syndrome Disease, Ehlers Danlos danlos ehlers syndrome Danlos Disease, Ehlers Dystrophia mesodermalis congenita Syndrome, Ehlers-Danlos Ehlers-Danlos syndromes |
|
| has related synonym |
ED syndrome |
|
| id |
MONDO:0020066 |
|
| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#gard_rare http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders |
|
| label |
Ehlers-Danlos syndrome |
|
| notation |
MONDO:0020066 |
|
| prefLabel |
Ehlers-Danlos syndrome |
|
| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
|
| textual 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. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0024255 http://purl.obolibrary.org/obo/MONDO_0015938 http://purl.obolibrary.org/obo/MONDO_0015332 http://purl.obolibrary.org/obo/MONDO_0015331 http://purl.obolibrary.org/obo/MONDO_0017133 |