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Disease Ontology Browser
ichthyosis bullosa of Siemens (DOID:0060877)
Alliance: disease page
Synonyms: bullous type ichthyosis; superficial epidermolytic ichthyosis
Alt IDs: OMIM:146800, ICD10CM:Q80.8, MESH:D053560, ORDO:455, UMLS_CUI:C0432306
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.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
12/05/2017
MGI 6.11
The Jackson Laboratory