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Metadata
ID DOID:0061223
Name epidermolytic hyperkeratosis 2A
Definition An epidermolytic hyperkeratosis that is characterized by blistering, keratoderma, and erythroderma that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene on chromosome 17q21.
https://pubmed.ncbi.nlm.nih.gov/7512983/
Xrefs

MIM:620150

Synonyms

autosomal dominant epidermolytic hyperkeratosis 2A [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a epidermolytic hyperkeratosis 2

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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