loading...| Preferred Name | Ehlers-Danlos syndrome | |
| Synonyms |
elastic skin Cutis hyperelastica |
|
| Definitions |
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. OMIM mapping confirmed by DO. [LS]. OMIM mapping by NeuroDevNet. [LS]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_13359 |
|
| comment |
OMIM mapping confirmed by DO. [LS]. OMIM mapping by NeuroDevNet. [LS]. |
|
| alternative label |
elastic skin Cutis hyperelastica |
|
| database_cross_reference |
ICD9CM:756.83 ICD10CM:Q79.6 SNOMEDCT_US_2023_03_01:268352002 MESH:D004535 OMIM:PS130000 UMLS_CUI:C0013720 GARD:6322 NCI:C34568 |
|
| 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. OMIM mapping confirmed by DO. [LS]. OMIM mapping by NeuroDevNet. [LS]. |
|
| has exact synonym |
elastic skin Cutis hyperelastica |
|
| has_alternative_id |
DOID:14696 |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:13359 |
|
| in_subset | ||
| label |
Ehlers-Danlos syndrome |
|
| notation |
DOID:13359 |
|
| note |
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. OMIM mapping confirmed by DO. [LS]. OMIM mapping by NeuroDevNet. [LS]. |
|
| preferred label |
Ehlers-Danlos syndrome |
|
| prefLabel |
Ehlers-Danlos syndrome |
|
| subClassOf |