Search Ontology:
Human Disease
epidermolysis bullosa dystrophica
- Term ID
- DOID:4959
- Synonyms
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- Dystrophic epidermolysis bullosa
- 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. https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa#genes
- References
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- GARD:2150
- ICD10CM:Q81.2
- MESH:D016108
- NCI:C84691
- SNOMEDCT_US_2023_03_01:254185007
- UMLS_CUI:C0079294
- Ontology
- Human Disease ( DOID:4959 )
- is a type of
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- has subtype
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Genes Involved
Zebrafish Models