Details of Disease

General Information of Disease (ID: DISHVL0O)

Disease Name Waardenburg syndrome type 2D
Synonyms Waardenburg syndrome, type 2D; Waardenburg syndrome type IID; SNAI2 Waardenburg syndrome type 2; WS2D; Waardenburg syndrome type 2 caused by mutation in SNAI2
Definition Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SNAI2 gene.
Disease Hierarchy
DISVZBEV: Waardenburg syndrome type 2
DISHVL0O: Waardenburg syndrome type 2D
Disease Identifiers
MONDO ID
MONDO_0012144
MESH ID
C563839
UMLS CUI
C1837203
MedGen ID
323102

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
SNAI2 OT7Y8EJ2 Strong Autosomal recessive [1]
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References

1 SLUG (SNAI2) deletions in patients with Waardenburg disease. Hum Mol Genet. 2002 Dec 1;11(25):3231-6. doi: 10.1093/hmg/11.25.3231.