Details of Disease

General Information of Disease (ID: DISOOR79)

Disease Name Cardiac, facial, and digital anomalies with developmental delay
Synonyms CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD
Disease Hierarchy
DISYKSRF: Genetic disease
DISOOR79: Cardiac, facial, and digital anomalies with developmental delay
Disease Identifiers
MONDO ID
MONDO_0032572
UMLS CUI
C4748484
OMIM ID
618164
MedGen ID
1648330

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
TRAF7 OTW8Q5TF Definitive Autosomal dominant [1]
------------------------------------------------------------------------------------

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.