Search Ontology:
Human Disease

epidermolysis bullosa simplex 2F with mottled pigmentation

Term ID
DOID:0111346
Synonyms
  • EBSMP
  • epidermolysis bullosa simplex with mottled pigmentation
  • Epidermolysis bullosa simplex-MP
  • speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering
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 the keratin-5 gene (KRT5) on chromosome 12q13.13. (2)
References
Ontology
Human Disease   ( DOID:0111346 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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