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Metadata
ID DOID:0060877
Name bullous congenital ichthyosiform erythroderma
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.
https://www.ncbi.nlm.nih.gov/pubmed/4247927, https://www.ncbi.nlm.nih.gov/pubmed/7524919
Xrefs

GARD:2966

MESH:D053560

NCI:C84777

OMIM:146800

ORDO:455

SNOMEDCT_US_2023_03_01:254169002

UMLS_CUI:C0432306

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

bullous type ichthyosis [EXACT]

ichthyosis bullosa of Siemens [EXACT]

superficial epidermolytic ichthyosis [EXACT]

Parent Relationships

is_a ichthyosis

is_a autosomal dominant disease

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