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 |
| database_cross_reference |
UMLS_CUI:C0079294 NCI:C84691 GARD:2150 ICD10CM:Q81.2 SNOMEDCT_US_2022_09_01:254185007 MESH:D016108 |
| 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 |
| prefLabel |
epidermolysis bullosa dystrophica |
| subClassOf |