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Echinobase
Summary Literature (0)
DOID:0060877 - ichthyosis bullosa of Siemens

Disease Ontology Definition:An ichthyosis characterized by autosomal dominant inheritance of congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance that has material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13.

Synonyms: bullous type ichthyosis, superficial epidermolytic ichthyosis,

Echinobase Genes :



Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): ichthyosis (is_a)