Ehlers-Danlos Syndrome Dermatosparaxis Type
Disease ID: disease_node_18764
Connections displayed (default: 10).
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| Dbxref | MIM:225410 |
|---|---|
| Subclassof | DOID_0050737, DOID_13359 |
| Data Source | DOID |
| Doid Label | Ehlers-Danlos syndrome dermatosparaxis type |
| Doid Description | An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18764 |
| Doid Id | DOID_0080733 |
| Label | Ehlers-Danlos Syndrome Dermatosparaxis Type |
- Outgoing r'ship
SUBCLASS_OFto/from Ehlers-Danlos Syndrome(ID:disease_node_2744) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)