loading...| Preferred Name | epidermolysis bullosa simplex | |
| Synonyms |
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| Definitions |
An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin. |
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| ID |
http://purl.obolibrary.org/obo/DOID_4644 |
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| database_cross_reference |
OMIM:601001 SNOMEDCT_US_2023_03_01:205585003 UMLS_CUI:C0079298 ICD10CM:Q81.0 OMIM:615425 MESH:D016110 GARD:10752 NCI:C84692 ORDO:304 |
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| definition |
An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin. |
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| has_obo_namespace |
disease_ontology |
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| id |
DOID:4644 |
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| in_subset | ||
| label |
epidermolysis bullosa simplex |
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| notation |
DOID:4644 |
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| note |
An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin. |
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| preferred label |
epidermolysis bullosa simplex |
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| prefLabel |
epidermolysis bullosa simplex |
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| subClassOf |