loading...| Preferred Name | epidermolysis bullosa dystrophica | |
| Synonyms |
Dystrophic epidermolysis bullosa |
|
| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_4959 |
|
| alternative label |
Dystrophic epidermolysis bullosa |
|
| database_cross_reference |
UMLS_CUI:C0079294 ICD10CM:Q81.2 MESH:D016108 SNOMEDCT_US_2023_03_01:254185007 GARD:2150 NCI:C84691 |
|
| definition |
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. |
|
| has exact synonym |
Dystrophic epidermolysis bullosa |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:4959 |
|
| in_subset | ||
| label |
epidermolysis bullosa dystrophica |
|
| notation |
DOID:4959 |
|
| note |
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. |
|
| preferred label |
epidermolysis bullosa dystrophica |
|
| prefLabel |
epidermolysis bullosa dystrophica |
|
| subClassOf |