OBO ID: DOID:0060877 |
Term Name: | bullous congenital ichthyosiform erythroderma | Search Ontology: | |
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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. (2) | ||
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Ontology: | Human Disease ( DOID:0060877 ) |
OTHER bullous congenital ichthyosiform erythroderma PAGES
GENES INVOLVED
Human Gene | Zebrafish Ortholog | OMIM Term | OMIM Phenotype ID |
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KRT2 | Ichthyosis bullosa of Siemens |
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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