Search Ontology:
Human Disease

bullous congenital ichthyosiform erythroderma

Term ID
DOID:0060877
Synonyms
  • bullous type ichthyosis
  • ichthyosis bullosa of Siemens
  • superficial epidermolytic ichthyosis
Definition
An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13. (2)
References
Ontology
Human Disease   ( DOID:0060877 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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