Ehlers-Danlos Syndrome
Disease ID: disease_node_2744
Connections displayed (default: 10).
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| Dbxref | GARD:6322, ICD10CM:Q79.6, ICD9CM:756.83, MESH:D004535, MIM:PS130000, NCI:C34568, SNOMEDCT_US_2023_03_01:268352002, UMLS_CUI:C0013720 |
|---|---|
| Subclassof | DOID_854 |
| Data Source | DOID, MESH |
| Synonyms | Cutis hyperelastica, elastic skin |
| Mesh Id | D004535 |
| Mesh Label | Ehlers-Danlos Syndrome |
| Mesh Subclassof | D003095, D012873, D012868, D020141 |
| Doid Label | Ehlers-Danlos syndrome |
| Doid Description | 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]. |
| Disease Node Id | disease_node_2744 |
| Doid Id | DOID_13359 |
| Label | Ehlers-Danlos Syndrome |
| Doid Alternate Ids | DOID_14696 |
- Incoming r'ship
SUBCLASS_OFto/from Vascular Type Ehlers-Danlos Syndrome(ID:disease_node_18757) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Ehlers-Danlos Syndrome Cardiac Valvular Type(ID:disease_node_18767) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Ehlers-Danlos Syndrome Periodontal Type 1(ID:disease_node_18773) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Ehlers-Danlos Syndrome Dermatosparaxis Type(ID:disease_node_18764) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Ehlers-Danlos Syndrome Periodontal Type 2(ID:disease_node_18772) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Ehlers-Danlos Syndrome Spondylodysplastic Type 3(ID:disease_node_18758) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Ehlers-Danlos Syndrome Arthrochalasia Type 2(ID:disease_node_18769) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Ehlers-Danlos Syndrome Spondylodysplastic Type 2(ID:disease_node_18774) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Ehlers-Danlos Syndrome Musculocontractural Type 2(ID:disease_node_18760) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Ehlers-Danlos Syndrome Kyphoscoliotic Type 1(ID:disease_node_18763) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Ehlers-Danlos Syndrome Spondylodysplastic Type 1(ID:disease_node_18759) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Ehlers-Danlos Syndrome Musculocontractural Type 1(ID:disease_node_18761) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Collagen Diseases(ID:disease_node_2158) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Ehlers-Danlos Syndrome Classic Type 2(ID:disease_node_18771) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Ehlers-Danlos Syndrome Kyphoscoliotic Type 2(ID:disease_node_18762) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Ehlers-Danlos Syndrome Classic-Like 1(ID:disease_node_18766) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Ehlers-Danlos Syndrome Arthrochalasia Type 1(ID:disease_node_18770) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Ehlers-Danlos Syndrome Classic-Like 2(ID:disease_node_18765) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Autosomal Recessive Type Iv Ehlers-Danlos Syndrome(ID:disease_node_18756) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Brittle Cornea Syndrome 2(ID:disease_node_18768) (Disease)