Visualize Submit Comment
Metadata
ID DOID:0061208
Name epidermolytic hyperkeratosis 2B
Definition An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases that has_material_basis_in homozygous mutation in the KRT10 geneon chromosome 17q21.
https://pubmed.ncbi.nlm.nih.gov/19474805/
Xrefs

MIM:620707

Synonyms

autosomal recessive epidermolytic hyperkeratosis 2B [EXACT]

Parent Relationships

is_a epidermolytic hyperkeratosis 2

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

Add an item to the term tracker