Details of Disease

General Information of Disease (ID: DISHNDD3)

Disease Name Wieacker-Wolff syndrome, female-restricted
Synonyms WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR; Wieacker-Wolff syndrome, female-restricted, X-linked dominant
Disease Hierarchy
DIS9QO65: Wieacker-Wolff syndrome (spectrum)
DISHNDD3: Wieacker-Wolff syndrome, female-restricted
Disease Identifiers
MONDO ID
MONDO_0026762
UMLS CUI
C5393303
OMIM ID
301041
MedGen ID
1715791

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
ZC4H2 OT6Q5UDC Definitive X-linked [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.