General Information of Disease (ID: DISMWXB8)

Disease Name Dyschromatosis universalis hereditaria 1
Synonyms dyschromatosis universalis hereditaria 1; DUH1
Disease Hierarchy
DIS5MQWA: Dyschromatosis universalis hereditaria
DISMWXB8: Dyschromatosis universalis hereditaria 1
Disease Identifiers
MONDO ID
MONDO_0024524
MESH ID
C567273
UMLS CUI
C2675711
OMIM ID
127500
MedGen ID
390864

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
SASH1 OTQA8BD4 Limited Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.