Details of Disease | DrugMAP

General Information of Disease (ID: DISEPMLG)

Disease Name	Autosomal recessive epidermolytic ichthyosis
Synonyms	AREI
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISJPEP3: Epidermolytic ichthyosis DISEPMLG: Autosomal recessive epidermolytic ichthyosis
Disease Identifiers	MONDO ID MONDO_0044742 UMLS CUI C5437635 MedGen ID 1725198 Orphanet ID 512103 SNOMED CT ID 890235002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KRT10	OTSVRD3Q	Supportive	Autosomal recessive	[1]
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References

1	Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis. Br J Dermatol. 2011 Feb;164(2):442-7. doi: 10.1111/j.1365-2133.2010.10096.x.