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DOID:0060877 - bullous congenital ichthyosiform erythroderma
Disease Ontology 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.
Synonyms: bullous type ichthyosis, superficial epidermolytic ichthyosis, ichthyosis bullosa of Siemens
Echinobase Genes
:
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
ichthyosis (is_a)