Regulation of Transcription Ontology

Last uploaded: December 4, 2018
Preferred Name

Epidermolytic hyperkeratosis
Synonyms

EHK

Definitions

(EHK) - An autosomal dominant skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop.

ID

http://identifiers.org/omim/113800

altLabel

EHK

definition

(EHK) - An autosomal dominant skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop.

id

OMIM:113800

notation

OMIM:113800

prefLabel

Epidermolytic hyperkeratosis

subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031

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