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bullous congenital ichthyosiform erythroderma (DOID:0060877)
Alliance: disease page
Synonyms: bullous type ichthyosis; ichthyosis bullosa of Siemens; superficial epidermolytic ichthyosis
Alt IDs: OMIM:146800, MESH:D053560, NCI:C84777, ORDO:455, UMLS_CUI:C0432306
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory