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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_4959 |
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| database_cross_reference |
ICD10CM:Q81.2 UMLS_CUI:C0079294 GARD:2150 SNOMEDCT_US_2021_09_01:254185007 MESH:D016108 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 |
|
| IAO_0000115 |
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 |
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. |
|
| prefLabel |
epidermolysis bullosa dystrophica |
|
| subClassOf |