Epidermolysis Bullosa Dystrophica
Disease ID: disease_node_8564
Connections displayed (default: 10).
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| Dbxref | GARD:2150, ICD10CM:Q81.2, MESH:D016108, NCI:C84691, SNOMEDCT_US_2023_03_01:254185007, UMLS_CUI:C0079294 |
|---|---|
| Subclassof | DOID_2730 |
| Data Source | DOID, MESH |
| Synonyms | Dystrophic epidermolysis bullosa |
| Mesh Id | D016108 |
| Mesh Label | Epidermolysis Bullosa Dystrophica |
| Mesh Subclassof | D003095, D004820 |
| Doid Label | epidermolysis bullosa dystrophica |
| Doid Description | An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. |
| Disease Node Id | disease_node_8564 |
| Doid Id | DOID_4959 |
| Label | Epidermolysis Bullosa Dystrophica |
- Incoming r'ship
SUBCLASS_OFto/from Recessive Dystrophic Epidermolysis Bullosa(ID:disease_node_14232) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Pretibial Dystrophic Epidermolysis Bullosa(ID:disease_node_14230) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Epidermolysis Bullosa(ID:disease_node_2967) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Autosomal Domit Dystrophic Epidermolysis Bullosa(ID:disease_node_14231) (Disease)