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Metadata
ID DOID:0111346
Name epidermolysis bullosa simplex with mottled pigmentation
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.
https://www.ncbi.nlm.nih.gov/pubmed/421361, https://www.ncbi.nlm.nih.gov/pubmed/8799157
Xrefs

GARD:9737

MESH:C535959

OMIM:131960

ORDO:79397

SNOMEDCT_US_2020_09_01:254180002

UMLS_CUI:C0432316

Synonyms

EBSMP [EXACT]

Epidermolysis bullosa simplex-MP [EXACT]

speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering [EXACT]

Parent Relationships

is_a epidermolysis bullosa simplex

is_a autosomal dominant disease

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