Details of Disease

General Information of Disease (ID: DISN3WH0)

Disease Name Snijders blok-fisher syndrome
Synonyms SNIBFIS; SNIJDERS BLOK-FISHER SYNDROME
Disease Hierarchy
DISYKSRF: Genetic disease
DISN3WH0: Snijders blok-fisher syndrome
Disease Identifiers
MONDO ID
MONDO_0032830
UMLS CUI
C5231424
OMIM ID
618604
MedGen ID
1684801

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
POU3F3 OT6BBXPD Strong 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.