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| Term | bullous congenital ichthyosiform erythroderma | ID (Ontology) | DOID:0060877 (Human Disease) |
| 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. | ||
| Also Known As | "bullous type ichthyosis" ; "ichthyosis bullosa of Siemens" ; "superficial epidermolytic ichthyosis" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease__ skin disease | |__ichthyosis__________________| bullous congenital ichthyosiform erythroderma |
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autosomal dominant disease ichthyosis |
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GARD:2966 MESH:D053560 MIM:146800 NCI:C84777 ORDO:455 SNOMEDCT_US_2023_03_01:254169002 UMLS_CUI:C0432306 |
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