Details of Disease

General Information of Disease (ID: DIS6PMZ6)

Disease Name Palmoplantar keratoderma, Bothnian type
Synonyms PPKB; palmoplantar keratoderma, Bothnian type
Disease Hierarchy
DIS6O9JS: Diffuse palmoplantar keratoderma
DIS6PMZ6: Palmoplantar keratoderma, Bothnian type
Disease Identifiers
MONDO ID
MONDO_0010849
MESH ID
C536173
UMLS CUI
C1838359
OMIM ID
600231
MedGen ID
325011
Orphanet ID
2337

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
AQP5 OT77GBY8 Strong Autosomal dominant [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.