loading...| Preferred Name |
Ehlers-Danlos syndrome |
| Synonyms |
Cutis hyperelastica |
| Definitions |
OMIM mapping confirmed by DO. [LS]. OMIM mapping by NeuroDevNet. [LS]. A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. |
| ID |
http://purl.obolibrary.org/obo/DOID_13359 |
| comment |
OMIM mapping confirmed by DO. [LS]. OMIM mapping by NeuroDevNet. [LS]. |
| database_cross_reference |
ICD9CM:756.83 OMIM:PS130000 GARD:6322 NCI:C34568 UMLS_CUI:C0013720 SNOMEDCT_US_2020_03_01:268352002 ICD10CM:Q79.6 MESH:D004535 |
| has exact synonym |
Cutis hyperelastica elastic skin |
| has_alternative_id |
DOID:14696 |
| id |
DOID:13359 |
| in_subset | |
| label |
Ehlers-Danlos syndrome |
| notation |
DOID:13359 |
| prefLabel |
Ehlers-Danlos syndrome |
| textual definition |
A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. |
| 引自 | |
| 有_obo_命名空间 |
disease_ontology |
| subClassOf |