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ZIRC
OBO ID: DOID:0060877
Term Name: bullous congenital ichthyosiform erythroderma Search Ontology:
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)
OTHER bullous congenital ichthyosiform erythroderma PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KRT2 Ichthyosis bullosa of Siemens 146800
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None