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| Term | epidermolysis bullosa simplex with mottled pigmentation | ID (Ontology) | DOID:0111346 (Human Disease) |
| Definition | An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in KRT5 on chromosome 12q13.13. | ||
| Also Known As | "EBSMP" ; "Epidermolysis bullosa simplex-MP" ; "speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease_____ epidermolysis bullosa | |__epidermolysis bullosa simplex__| epidermolysis bullosa simplex with mottled pigmentation |
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| Is a |
autosomal dominant disease epidermolysis bullosa simplex |
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External Crossreferences & Linkouts
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GARD:9737 MESH:C535959 MIM:131960 ORDO:79397 SNOMEDCT_US_2023_03_01:254180002 UMLS_CUI:C0432316 |
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