Details of Disease

General Information of Disease (ID: DIS5N46O)

Disease Name Keratinopathic ichthyosis
Synonyms KPI
Disease Hierarchy
DISKGT16: Inherited ichthyosis
DIS5N46O: Keratinopathic ichthyosis
Disease Identifiers
MONDO ID
MONDO_0017266
UMLS CUI
C4511307
MedGen ID
1393111
Orphanet ID
281103
SNOMED CT ID
724837004

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 Strong Genetic Variation [1]
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References

1 Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis. Acta Derm Venereol. 2016 May;96(4):473-8. doi: 10.2340/00015555-2299.