RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
Bullous Type Ichthyosis; Bullous Type of Ichthyosis; IBS; Siemens ichthyosis bullosa; bullous type ichthyoses; bullous type ichthyosis of Siemens; ichthyosis bullosa of Siemens; superficial epidermolytic ichthyosis