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bullous congenital ichthyosiform erythroderma
Summary
- Synonym
-
- bullous type ichthyosis
- ichthyosis bullosa of Siemens
- superficial epidermolytic ichthyosis
- 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.
- Super Class
- autosomal dominant disease ichthyosis
External Links
- Disease Ontology
- DOID:0060877
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P09848 | Lactase/phlorizin hydrolase | |
| P21964 | Catechol O-methyltransferase |
